StemCell Therapy

"Etiologies" and "etiologic" redirect here. For other uses, see etiology.

Cause, also known as etiology () and aetiology, is the reason or origination of something.[1]

The word is derived from the Greek , aitiologia, "giving a reason for" (, aitia, "cause"; and -, -logia).[2]

In medicine, the term refers to the causes of diseases or pathologies.[3] Where no etiology can be ascertained, the disorder is said to be idiopathic.Traditional accounts of the causes of disease may point to the "evil eye".[4]The Ancient Roman scholar Marcus Terentius Varro put forward early ideas about microorganisms in a 1st-century BC book titled On Agriculture.[5]

Medieval thinking on the etiology of disease showed the influence of Galen and of Hippocrates.[6] Medieval European doctors generally held the view that disease was related to the air and adopted a miasmatic approach to disease etiology.[7]

Etiological discovery in medicine has a history in Robert Koch's demonstration that the tubercle bacillus (Mycobacterium tuberculosis complex) causes the disease tuberculosis, Bacillus anthracis causes anthrax, and Vibrio cholerae causes cholera. This line of thinking and evidence is summarized in Koch's postulates. But proof of causation in infectious diseases is limited to individual cases that provide experimental evidence of etiology.

In epidemiology, several lines of evidence together are required to infer causation. Sir Austin Bradford-Hill demonstrated a causal relationship between smoking and lung cancer, and summarized the line of reasoning in the epidemiological criteria for causation. Dr. Al Evans, a US epidemiologist, synthesized his predecessors' ideas in proposing the Unified Concept of Causation.

Further thinking in epidemiology was required to distinguish causation from association or statistical correlation. Events may occur together simply due to chance, bias or confounding, instead of one event being caused by the other. It is also important to know which event is the cause. Careful sampling and measurement are more important than sophisticated statistical analysis to determine causation. Experimental evidence involving interventions (providing or removing the supposed cause) gives the most compelling evidence of etiology.

Related to this, sometimes several symptoms always appear together, or more often than what could be expected, though it is known that one cannot cause the other. These situations are called syndromes, and normally it is assumed that an underlying condition must exist that explains all the symptoms.

Other times there is not a single cause for a disease, but instead a chain of causation from an initial trigger to the development of the clinical disease. An etiological agent of disease may require an independent co-factor, and be subject to a promoter (increases expression) to cause disease. An example of all the above, which was recognized late, is that peptic ulcer disease may be induced by stress, requires the presence of acid secretion in the stomach, and has primary etiology in Helicobacter pylori infection. Many chronic diseases of unknown cause may be studied in this framework to explain multiple epidemiological associations or risk factors which may or may not be causally related, and to seek the actual etiology.

Some diseases, such as diabetes or hepatitis, are syndromically defined by their signs and symptoms, but include different conditions with different etiologies. These are called heterogeneous conditions.

Conversely, a single etiology, such as Epstein-Barr virus, may in different circumstances produce different diseases such as mononucleosis, nasopharyngeal carcinoma, or Burkitt's lymphoma.

An endotype is a subtype of a condition, which is defined by a distinct functional or pathobiological mechanism. This is distinct from a phenotype, which is any observable characteristic or trait of a disease, such as morphology, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. It is envisaged that patients with a specific endotype present themselves within phenotypic clusters of diseases.

One example is asthma, which is considered to be a syndrome, consisting of a series of endotypes.[8] This is related to the concept of disease entity.

Other example could be AIDS, where an HIV infection can produce several clinical stages. AIDS is defined as the clinical stage IV of the HIV infection.[9]

See original here:
Cause (medicine) - Wikipedia

Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999 Jun;55(6):478-82.

Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes Chromosomes Cancer. 2007 Jul;46(7):617-34. Review.

De Falco G, Giordano A. pRb2/p130: a new candidate for retinoblastoma tumor formation. Oncogene. 2006 Aug 28;25(38):5333-40. Review.

Ewens KG, Bhatti TR, Moran KA, Richards-Yutz J, Shields CL, Eagle RC, Ganguly A. Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma. Cancer Med. 2017 Mar;6(3):619-630. doi: 10.1002/cam4.1010. Epub 2017 Feb 17.

Lohmann DR, Gallie BL. Retinoblastoma. 2000 Jul 18 [updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1452/

Madhavan J, Ganesh A, Kumaramanickavel G. Retinoblastoma: from disease to discovery. Ophthalmic Res. 2008;40(5):221-6. doi: 10.1159/000128578. Epub 2008 Apr 29. Review.

Mallipatna A, Marino M, Singh AD. Genetics of Retinoblastoma. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):260-4. doi: 10.1097/APO.0000000000000219. Review.

Poulaki V, Mukai S. Retinoblastoma: genetics and pathology. Int Ophthalmol Clin. 2009 Winter;49(1):155-64. doi: 10.1097/IIO.0b013e3181924bc2. Review.

Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Thriault BL, Prigoda-Lee NL, Spencer C, Dimaras H, Corson TW, Pang R, Massey C, Godbout R, Jiang Z, Zacksenhaus E, Paton K, Moll AC, Houdayer C, Raizis A, Halliday W, Lam WL, Boutros PC, Lohmann D, Dorsman JC, Gallie BL. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol. 2013 Apr;14(4):327-34. doi: 10.1016/S1470-2045(13)70045-7. Epub 2013 Mar 13.

Schefler AC, Abramson DH. Retinoblastoma: what is new in 2007-2008. Curr Opin Ophthalmol. 2008 Nov;19(6):526-34. doi: 10.1097/ICU.0b013e328312975b. Review.

Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. 1998 Mar;62(3):610-9.

Soliman SE, Dimaras H, Khetan V, Gardiner JA, Chan HS, Hon E, Gallie BL. Prenatal versus Postnatal Screening for Familial Retinoblastoma. Ophthalmology. 2016 Dec;123(12):2610-2617. doi: 10.1016/j.ophtha.2016.08.027. Epub 2016 Oct 3.

Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL. Genetics and Molecular Diagnostics in Retinoblastoma--An Update. Asia Pac J Ophthalmol (Phila). 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711.

See more here:
Retinoblastoma - Genetics Home Reference - NIH

It has often been estimated that it takes, on average, 17years to translate a novel research finding into routine clinical practice. This time lag is due to a combination of factors, including the need to validate research findings, the fact that clinical trials are complex and take time to conduct and then analyze, and because disseminating information and educating healthcare workers about a new advance is not an overnight process.

Once sufficient evidence has been generated to demonstrate a benefit to patients, or "clinical utility," professional societies and clinical standards groups will use that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination will also factor in any potential ethical and legal issues, as well economic factors such as cost-benefit ratios.

The NHGRIGenomic Medicine Working Group(GMWG) has been gathering expert stakeholders in a series of genomic medicine meetingsto discuss issues surrounding the adoption of genomic medicine. Particularly, the GMWG draws expertise from researchers at the cutting edge of this new medical toolset, with the aim of better informing future translational research at NHGRI. Additionally the working group provides guidance to theNational Advisory Council on Human Genome Research (NACHGR)and NHGRI in other areas of genomic medicine implementation, such as outlining infrastructural needs for adoption of genomic medicine, identifying related efforts for future collaborations, and reviewing progress overall in genomic medicine implementation.

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Genomics and Medicine | NHGRI

A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important functions in both males and females, such as regulating hair growth and sex drive.

Hair growth begins under the skin in structures called follicles. Each strand of hair normally grows for 2 to 6 years, goes into a resting phase for several months, and then falls out. The cycle starts over when the follicle begins growing a new hair. Increased levels of androgens in hair follicles can lead to a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Additionally, there is a delay in the growth of new hair to replace strands that are shed.

Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies. The AR gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow the body to respond appropriately to dihydrotestosterone and other androgens. Studies suggest that variations in the AR gene lead to increased activity of androgen receptors in hair follicles. It remains unclear, however, how these genetic changes increase the risk of hair loss in men and women with androgenetic alopecia.

Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. Other hormonal, environmental, and genetic factors that have not been identified also may be involved.

Read more:
Androgenetic alopecia - Genetics Home Reference - NIH

Are Freckles Harmful?

Freckles are harmless. They may sometimes be confused with more serious skin problems. Conversely, more serious problems such as skin cancer may at times be passed over as a mere freckle. Anyone who has one or more pigmented spots of which they are not certain should be seen by a dermatologist. Treatments are available to lighten or eliminate those freckles whose appearance bothers their owners.

What are freckles?

Freckles are flat, beige, brown circular spots that typically are the size of the head of a metal nail. The spots are multiple and may develop on sun-exposed skin after repeated exposure to sunlight. These are particularly common in people with red hair and a fair complexion. They may appear on children as young as 1 or 2 years of age.

Most freckles are generally uniform in color but can vary somewhat in color -- they may be reddish, yellow, tan, light brown, brown, or black -- but they are basically slightly darker than the surrounding skin. They may become darker and more apparent after sun exposure and lighten in the winter months. Freckles are due to an increase in the amount of dark pigment called melanin and an increase in the total number of pigment-producing cells called melanocytes. The word freckle comes from the Middle English freken, which, in turn, came from the Old Norse freknur, meaning "freckled." (Some speakers of Old English and Old Norse must have had a tendency to develop freckles.)

What types of freckles are there? Freckles vs. lentigines

Ephelides (singular: ephelis) is the Greek word and medical term for freckle. This term refers to 1 mm-2 mm flat spots that are tan, slightly reddish, or light brown and typically appear during the sunny months. They are most often found on people with light complexions, and in some families, they are a hereditary (genetic) trait. People with reddish hair and green eyes are more prone to these types of freckles. Sun avoidance and sun protection, including the regular use of sunscreen, help to suppress the appearance of the freckles.

Lentigines (singular: lentigo) comes from the Latin word for lentil and is the medical term for certain types of larger pigmented spots most commonly present at the site of previous sunburn and sun damage. Lentigines are often darker than the common freckle and do not usually fade in the winter. This kind of spot is referred to as lentigo simplex or solar lentigo. The number of melanocytes and melanosomes (cellular structures that contain melanin pigment) are normal in number and appearance. Although occasionally lentigines are part of a certain rare genetic syndromes, for the most part they are just isolated and unimportant spots.

What are "liver spots" or "age spots"?

"Liver spots" or "age spots" are common names for solar lentigines on the back of the hands. The term "liver spot" is actually a misnomer since these spots are not caused by liver problems or liver disease. While lentigines do tend to appear over time, they are not in themselves a sign of old age but a sign of sun exposure.

Freckles vs. moles

Moles are small, almost sightless mammals (a shrew relative) that tunnel beneath the ground and occasionally damage suburban lawns and golf courses. This term when used to describe something on the skin is very nonspecific. Most of the time it refers to a brown to black flat to slightly elevated bump. The type of cells of which the bump is composed distinguish the real nature of mole. For example, a mole composed of benign melanocytes is called a melanocytic nevus.

Frequently, elderly people may have raised, brown, crusty lesions called seborrheic keratoses in or around the same areas where lentigines are plentiful. Seborrheic keratoses are also benign (not malignant) growths of the skin. Some patients call these growths "barnacles" or "Rice Krispies." Although they are most often medium brown, they can differ in color ranging anywhere from light tan to black. They occur in different sizes, too, ranging anywhere from a fraction of an inch (or centimeter) to an inch (2.5 cm) in diameter. Typically, these growths are around the size of a pencil eraser or slightly larger. Some lesions begin as a flat, brown spot, indistinguishable from a lentigo. Then they gradually thicken, forming the waxy stuck-on appearance of seborrheic keratoses. They look like they have either been pasted on the skin or may look like a dab of melted brown candle wax that dropped on the skin. Seborrheic keratoses may occur in the same areas as freckles. Seborrheic keratoses are also more common in areas of sun exposure, but they may also occur in sun-protected areas. When they first appear, the growths usually begin one at a time as small rough bumps. Eventually, they may thicken and develop a rough, warty surface.

Seborrheic keratoses are quite common especially after age 40. Almost everybody may eventually develop at least a few seborrheic keratoses during their lifetime. They are sometimes referred to as the "barnacles of old age."

What causes freckles?

Freckles are thought to develop as a result of a combination of genetic predisposition (inheritance) and sun exposure. The sun and fluorescent tanning lights both emit ultraviolet (UV) rays, which when absorbed by the skin enhances the production of melanin pigment by cutaneous melanocytes. People with blond or red hair, light-colored eyes, and fair skin are especially susceptible to the damaging effect of UV rays and likely to develop freckles. A freckle is essentially nothing more than an unusually heavy deposit of melanin at one spot in the skin.

Is it possible to inherit freckles?

Heredity or more accurately skin color is a very important factor in the susceptibility to form freckles. The tendency to freckles is inherited by individuals with fair skin and/or with blond or red hair. Very darkly pigmented individuals are unlikely to develop freckles.

Research in twin siblings, including pairs of identical twins and pairs of fraternal (nonidentical) twins, have found a striking similarity in the total number of freckles found on each pair of identical twins. Such similarities were considerably less common in fraternal twins. These studies strongly suggest that the occurrence of freckles is influenced by genetic factors. A number of genes have been associated with freckling: MC1R, IRF4. ASIP, TYR, and BNC2.

Why do freckles form on body areas not exposed to the sun?

True freckles almost never occur on covered skin and pose essentially no health risk at all. They are all absolutely harmless. They are not cancerous and generally do not become cancerous. A rare skin finding called axillary freckling (freckles in the armpit) is occasionally seen in a rare inherited disease called neurofibromatosis. These freckles are quite different in appearance from the common variety in both their appearance and distribution.

Anyone who has one or more uncertain pigmented spots should have their dermatologist evaluate them. Even verbal descriptions and photographs cannot convey enough information for satisfactory self-diagnosis. As always, it is better to be safe than sorry.

The American Academy of Dermatology recommends a full-body skin examination for adults as part of a routine annual health exam. It is important to have any new, changing, bleeding mole or growth examined by your physician or dermatologist as soon as possible. Skin cancers are curable if diagnosed and treated at an early stage.

What is the treatment for freckles?

Freckles are rarely treated. Several safe but expensive methods are available to help lighten or reduce the appearance of freckles. Frequently, multiple or a combination of treatments may be required for best results. Not everyone's skin will improve with similar treatments, and freckles can often recur with repeated UV exposures.

Are there home remedies for freckles?

There are no home remedies that adequately treat freckles. A quick Internet search will reveal a whole host of treatments, most of which are composed of a variety of edible goodies. Makeup can be of great benefit in concealing freckles.

What is the value of freckles?

Some people like their freckles, while others may be more bothered by their appearance. The cosmetic improvement of the skin is a frequent request among people with freckles. On the other hand, freckles are desirable by some people who like the special character or uniqueness these give them.

Freckles can have their value. One is in poetry. For example, without freckles, Oliver Wendell Holmes (1809-1894), the American physician, professor, and man of letters, could not have written:

His home! the Western giant smiles,And twirls the spotty globe to find it;This little speck, the British Isles? 'Tis but a freckle, never mind it.

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Is it possible to prevent freckles?

Since we cannot change our own genetic component of freckling, our main prevention measures are aimed at sun avoidance and sun-protection, including

Freckle prevention is more effective than freckle removal. Freckle-reduction treatments are more difficult and often not satisfactory. People with known hereditary tendencies of freckling should start sun protection early in childhood. Much of the sun and UV skin damage occurs often while children are under age 18.

Fair-skinned people who are more prone to freckling and sunburns are also generally more at risk for developing skin cancers. Freckles may be a warning sign of sensitive skin that is highly vulnerable to sunburn and to potential skin cancer.

Medically Reviewed on 12/27/2018

References

Bastiaens, Maarten, et al. "The Melanocortin-1-Receptor Gene Is the Major Freckle Gene." Human Molecular Genetics 10.16 (2001): 1701-1708.

Freckles.org. <http://www.freckles.org/>.

Green, Adle C., Sarah C. Wallingford, and Penelope McBride. "Childhood exposure to ultraviolet radiation and harmful skin effects: Epidemiological evidence." Progress in Biophysics and Molecular Biology 107 (2011): 349-355.

Praetorius, Christian, Richard A. Sturm, and Eirikur Steingrimsson. "Sun-Induced Freckling: Ephelides and Solar Lentigines." Pigment Cell & Melanoma Research 27 (2014): 339-350.

See the article here:
Freckles Treatment, Causes & Types - MedicineNet

Our 2018 conference featured keynote address by JeffreyR. Balser, M.D., Ph.D.,President and CEO, Vanderbilt University Medical Centerand Dean of the Vanderbilt University School of Medicine,one of the most progressive and innovative health systems in the country.

CEOs and administrators at the nations leading health networks and hospitals recognize this truth: precision medicine is poised to transform clinical care in ways that experts say will be highly disruptive to health networks, particularly those that are slow to respond to thisimportant trend.

That makes it imperative for CEOs and senior administrators at health networks everywhere to get answers to these two questions:1) How is precision medicine now changing clinical care today, including specific programs already used by networks and physicians to improve patient outcomes, reduce costs, and open the door to new sourcesof revenue?2) What precision medicine strategy is best for my health network and its hospitals?

Attendees will find answers to both questions at our Precision Medicine Institute Symposium 2019, taking place Thursday and Friday, May 2-3 at the Sheraton Hotel in New Orleans, LA.

During this intensive 1 1/2 day conference, the nations first movers and early adopters will discuss their first programs to infuse precision medicine into specific areas of clinical care. On topics ranging from spectacular success in oncology and cancer care, offering patients access to pharmacogenetic testing in primary care settings, and more, youll hear sessions and speakers with up-to-the minute insights so needed to develop the right precision medicine strategy for todays health networks.

Precision medicine is becoming real. It's no longer something for an egghead institution to dabble in. It can be used as a strategic advantage in terms of delivering efficient care, competing with other health systems, ways of making sure that patients are having as much risk mitigated as possible. It's an ideal opportunity to really fine-tune a health system. a really engaged audience and the type you don't normally get to speak with. Having leadership at health systems, at health companies, at other types of health enterprises, you have a different type of thinking. The networking is strong.

Howard McCloud, MDMedical Director, Personalized MedicineMoffitt Cancer Center, Tampa, FL

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Precision Medicine Executive Summit: Cutting-edge Insights

The International Committee of Medical Journal Editors (ICMJE) offers guidance to authors in its publication Recommendations for the Conduct, Reporting, Editing and Publication of Scholarly Work in Medical Journals (ICMJE Recommendations), which was formerly the Uniform Requirements for Manuscripts. The recommended style for references is based on the National Information Standards Organization NISO Z39.29-2005 (R2010) Bibliographic References as adapted by the National Library of Medicine for its databases.

Details, including fuller citations and explanations, are in Citing Medicine. (Note Appendix F which covers how citations in MEDLINE/PubMed differ from the advice in Citing Medicine.) For datasets (Item 43 below) and software on the Internet (Item 44 below), simplified formats are also shown.

See also #36. Journal article on the Internet and #43. Dataset description article.

1. Standard journal article

Halpern SD, Ubel PA, Caplan AL. Solid-organ transplantation in HIV-infected patients. N Engl J Med. 2002 Jul 25;347(4):284-7.

List the first six authors, followed by et al. If there are more than six authors, list the first six authors, followed by et al. (Note: NLM now lists all authors.):

Rose ME, Huerbin MB, Melick J, Marion DW, Palmer AM, Schiding JK, et al. Regulation of interstitial excitatory amino acid concentrations after cortical contusion injury. Brain Res. 2002;935(1-2):40-6.

Optional: If a journal carries continuous pagination throughout a volume (as many medical journals do), omit the month and issue number.

Halpern SD, Ubel PA, Caplan AL. Solid-organ transplantation in HIV-infected patients. N Engl J Med. 2002;347:284-7.

Optional: Addition of a database's unique identifiers, such as the PubMed PMID, for the citation:

Forooghian F, Yeh S, Faia LJ, Nussenblatt RB. Uveitic foveal atrophy: clinical features and associations. Arch Ophthalmol. 2009 Feb;127(2):179-86. PubMed PMID: 19204236; PubMed Central PMCID: PMC2653214.

Optional: Addition of a clinical trial registration number:

Trachtenberg F, Maserejian NN, Soncini JA, Hayes C, Tavares M. Does fluoride in compomers prevent future caries in children? J Dent Res. 2009 Mar;88(3):276-9. PubMed PMID: 19329464. ClinicalTrials.gov registration number: NCT00065988.

2. Organization as author

Diabetes Prevention Program Research Group. Hypertension, insulin, and proinsulin in participants with impaired glucose tolerance. Hypertension. 2002;40(5):679-86.

3. Both personal authors and organization as author (List all as they appear in the byline.)

Vallancien G, Emberton M, Harving N, van Moorselaar RJ; Alf-One Study Group. Sexual dysfunction in 1,274 European men suffering from lower urinary tract symptoms. J Urol. 2003;169(6):2257-61.

4. No author given

21st century heart solution may have a sting in the tail. BMJ. 2002;325(7357):184.

5. Article not in English

Ellingsen AE, Wilhelmsen I. Sykdomsangst blant medisin- og jusstudenter. Tidsskr Nor Laegeforen. 2002;122(8):785-7. Norwegian.

Optional: Translation of article title (MEDLINE/PubMed practice):

Ellingsen AE, Wilhelmsen I. [Disease anxiety among medical students and law students]. Tidsskr Nor Laegeforen. 2002 Mar 20;122(8):785-7. Norwegian.

6. Volume with supplement

Geraud G, Spierings EL, Keywood C. Tolerability and safety of frovatriptan with short- and long-term use for treatment of migraine and in comparison with sumatriptan. Headache. 2002;42 Suppl 2:S93-9.

7. Issue with supplement

Glauser TA. Integrating clinical trial data into clinical practice. Neurology. 2002;58(12 Suppl 7):S6-12.

8. Volume with part

Abend SM, Kulish N. The psychoanalytic method from an epistemological viewpoint. Int J Psychoanal. 2002;83(Pt 2):491-5.

9. Issue with part

Ahrar K, Madoff DC, Gupta S, Wallace MJ, Price RE, Wright KC. Development of a large animal model for lung tumors. J Vasc Interv Radiol. 2002;13(9 Pt 1):923-8.

10. Issue with no volume

Banit DM, Kaufer H, Hartford JM. Intraoperative frozen section analysis in revision total joint arthroplasty. Clin Orthop. 2002;(401):230-8.

11. No volume or issue

Outreach: bringing HIV-positive individuals into care. HRSA Careaction. 2002 Jun:1-6.

12. Pagination in roman numerals

Chadwick R, Schuklenk U. The politics of ethical consensus finding. Bioethics. 2002;16(2):iii-v.

13. Type of article indicated as needed

Tor M, Turker H. International approaches to the prescription of long-term oxygen therapy [letter]. Eur Respir J. 2002;20(1):242.

Lofwall MR, Strain EC, Brooner RK, Kindbom KA, Bigelow GE. Characteristics of older methadone maintenance (MM) patients [abstract]. Drug Alcohol Depend. 2002;66 Suppl 1:S105.

14. Article containing retraction

Feifel D, Moutier CY, Perry W. Safety and tolerability of a rapidly escalating dose-loading regimen for risperidone. J Clin Psychiatry. 2002;63(2):169. Retraction of: Feifel D, Moutier CY, Perry W. J Clin Psychiatry. 2000;61(12):909-11.

Article containing a partial retraction:

Starkman JS, Wolder CE, Gomelsky A, Scarpero HM, Dmochowski RR. Voiding dysfunction after removal of eroded slings. J Urol. 2006 Dec;176(6 Pt 1):2749. Partial retraction of: Starkman JS, Wolter C, Gomelsky A, Scarpero HM, Dmochowski RR. J Urol. 2006 Sep;176(3):1040-4.

15. Article retracted

Feifel D, Moutier CY, Perry W. Safety and tolerability of a rapidly escalating dose-loading regimen for risperidone. J Clin Psychiatry. 2000;61(12):909-11. Retraction in: Feifel D, Moutier CY, Perry W. J Clin Psychiatry. 2002;63(2):169.

Article partially retracted:

Starkman JS, Wolter C, Gomelsky A, Scarpero HM, Dmochowski RR. Voiding dysfunction following removal of eroded synthetic mid urethral slings. J Urol. 2006 Sep;176(3):1040-4. Partial retraction in: Starkman JS, Wolder CE, Gomelsky A, Scarpero HM, Dmochowski RR. J Urol. 2006 Dec;176(6 Pt 1):2749.

16. Article republished with corrections

Mansharamani M, Chilton BS. The reproductive importance of P-type ATPases. Mol Cell Endocrinol. 2002;188(1-2):22-5. Corrected and republished from: Mol Cell Endocrinol. 2001;183(1-2):123-6.

17. Article with published erratum

Malinowski JM, Bolesta S. Rosiglitazone in the treatment of type 2 diabetes mellitus: a critical review. Clin Ther. 2000;22(10):1151-68; discussion 1149-50. Erratum in: Clin Ther. 2001;23(2):309.

18. Article published electronically ahead of the print version

Yu WM, Hawley TS, Hawley RG, Qu CK. Immortalization of yolk sac-derived precursor cells. Blood. 2002 Nov 15;100(10):3828-31. Epub 2002 Jul 5.

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19. Personal author(s)

Murray PR, Rosenthal KS, Kobayashi GS, Pfaller MA. Medical microbiology. 4th ed. St. Louis: Mosby; 2002.

20. Editor(s), compiler(s) as author

Gilstrap LC 3rd, Cunningham FG, VanDorsten JP, editors. Operative obstetrics. 2nd ed. New York: McGraw-Hill; 2002.

21. Author(s) and editor(s)

Breedlove GK, Schorfheide AM. Adolescent pregnancy. 2nd ed. Wieczorek RR, editor. White Plains (NY): March of Dimes Education Services; 2001.

22. Organization(s) as author

American Occupational Therapy Association, Ad Hoc Committee on Occupational Therapy Manpower. Occupational therapy manpower: a plan for progress. Rockville (MD): The Association; 1985 Apr. 84 p.

National Lawyer's Guild AIDs Network (US); National Gay Rights Advocates (US). AIDS practice manual: a legal and educational guide. 2nd ed. San Francisco: The Network; 1988.

23. Chapter in a book

Meltzer PS, Kallioniemi A, Trent JM. Chromosome alterations in human solid tumors. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGraw-Hill; 2002. p. 93-113.

24. Conference proceedings

Harnden P, Joffe JK, Jones WG, editors. Germ cell tumours V. Proceedings of the 5th Germ Cell Tumour Conference; 2001 Sep 13-15; Leeds, UK. New York: Springer; 2002.

25. Conference paper

Christensen S, Oppacher F. An analysis of Koza's computational effort statistic for genetic programming. In: Foster JA, Lutton E, Miller J, Ryan C, Tettamanzi AG, editors. Genetic programming. EuroGP 2002: Proceedings of the 5th European Conference on Genetic Programming; 2002 Apr 3-5; Kinsdale, Ireland. Berlin: Springer; 2002. p. 182-91.

26. Scientific or technical report

Issued by funding/sponsoring agency:

Yen GG (Oklahoma State University, School of Electrical and Computer Engineering, Stillwater, OK). Health monitoring on vibration signatures. Final report. Arlington (VA): Air Force Office of Scientific Research (US), Air Force Research Laboratory; 2002 Feb. Report No.: AFRLSRBLTR020123. Contract No.: F496209810049.

Issued by performing agency:

Russell ML, Goth-Goldstein R, Apte MG, Fisk WJ. Method for measuring the size distribution of airborne Rhinovirus. Berkeley (CA): Lawrence Berkeley National Laboratory, Environmental Energy Technologies Division; 2002 Jan. Report No.: LBNL49574. Contract No.: DEAC0376SF00098. Sponsored by the Department of Energy.

27. Dissertation

Borkowski MM. Infant sleep and feeding: a telephone survey of Hispanic Americans [dissertation]. Mount Pleasant (MI): Central Michigan University; 2002.

28. Patent

Pagedas AC, inventor; Ancel Surgical R&D Inc., assignee. Flexible endoscopic grasping and cutting device and positioning tool assembly. United States patent US 20020103498. 2002 Aug 1.

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29. Newspaper article

Tynan T. Medical improvements lower homicide rate: study sees drop in assault rate. The Washington Post. 2002 Aug 12;Sect. A:2 (col. 4).

30. Audiovisual material

Chason KW, Sallustio S. Hospital preparedness for bioterrorism [videocassette]. Secaucus (NJ): Network for Continuing Medical Education; 2002.

31. Legal Material

Public law:Veterans Hearing Loss Compensation Act of 2002, Pub. L. No. 107-9, 115 Stat. 11 (May 24, 2001).

Unenacted bill:Healthy Children Learn Act, S. 1012, 107th Cong., 1st Sess. (2001).

Code of Federal Regulations:Cardiopulmonary Bypass Intracardiac Suction Control, 21 C.F.R. Sect. 870.4430 (2002).

Hearing:Arsenic in Drinking Water: An Update on the Science, Benefits and Cost: Hearing Before the Subcomm. on Environment, Technology and Standards of the House Comm. on Science, 107th Cong., 1st Sess. (Oct. 4, 2001).

32. Map

Pratt B, Flick P, Vynne C, cartographers. Biodiversity hotspots [map]. Washington: Conservation International; 2000.

33. Dictionary and similar references

Dorland's illustrated medical dictionary. 29th ed. Philadelphia: W.B. Saunders; 2000. Filamin; p. 675.

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34. Forthcoming and Preprints

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Samples of Formatted References for Authors of Journal ...

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Even though cancers may be found in the same part of the body and look similar under the microscope, we now understand that they can be quite different. That difference often appears in how that tumor type responds to therapy. Increasingly, that variation in response to treatment can reflect the changes that are found in the DNA of the tumor. Thats why Moffitt Cancer Center looks at every patients cancer as unique. We start with a precise diagnosis that tries to identify the specific DNA alternations in the tumor and then create an individualized treatment plan that has the best chance of beating your cancer. Our team approach ensures a full range of specialists are collaborating to look at your cancer from every perspective.

The ultimate goal of personalized medicine at Moffitt is to create and share new, targeted treatments that will improve outcomes, cure disease, extend survivorship and improve quality of life for patients regardless of where they live. This is accomplished through existing clinical programs as well as ongoing research into how best to develop the right diagnosis and treatment plan for each individual.

Our efforts include:

DeBartolo Family Personalized Medicine InstituteThe DeBartolo Family Personalized Medicine Institute provides the hub for personalized care and research at Moffitt. Created by a generous donation from the DeBartolo Family Foundation, the DFPMI was created in 2012 to revolutionize the discovery, delivery and effectiveness of cancer care on an international scale.

Department of Individualized Cancer ManagementThe Department of Individualized Cancer Management includes five high impact and clinically oriented departments under the leadership of Dr. Howard McLeod: Adolescent & Young Adult, Gene Home, Genetic Risk Assessment Service, Personalized Cancer Medicine and the Senior Adult Oncology Program. The Personalized Cancer Medicine department is comprised of the Personalized Medicine Clinical Service (PMCS) and Clinical Genomics Action Committee (CGAC). PMCS and CGAC were developed as pathways for direct clinical translation of results from genomic testing. PMCS provides consultation and interpretation of the tumor genetic sequencing results for Moffitt patients and serves as a resource to Moffitt Physicians for input and advice regarding personalized medicine. CGAC serves as Moffitts unique molecular tumor board and includes a diverse team with expertise from various disciplines. Dr. McLeod, a renowned expert on the role of genetics on the individuals response to cancer therapies, is the Medical Director for the DeBartolo Family Personalized Medicine Institute.

Total Cancer CareMoffitt Cancer Center's Total Cancer Care initiative is an ambitious research partnership between patients, doctors and researchers to improve all aspects of cancer prevention and care. Patients participate by donating information and tissue. Researchers use the information to learn about all issues related to cancer and how care can be improved. Physicians use the information to better educate and care for patients.

Clinical PathwaysMoffitts clinical pathways are a model for providing evidence-based, consensus-driven, cost-effective cancer care. Each of the 51 disease-specific pathways that Moffitt has developed offers a detailed road map for physicians to provide state-of-the-art cancer care. The pathways demonstrate how to integrate evidence-based medicine with available technology to standardize, benchmark, measure and improve cancer care.

Molecular Diagnostics LaboratoryThe Morsani Molecular Diagnostics Laboratory is revolutionizing cancer diagnostics by using the most advanced genetic testing tools available to improve the precision in the patient care we provide. Studies show as many as 30 percent of initial cancer diagnoses are revised to indicate a different type of cancer. This lab seeks to reduce that number by developing clinical biomarkers that can help identify the right drug for a particular patient or determine if a specific clinical trial is a good match for a patient with a certain tumor gene mutation.

ORIENThe Oncology Research Information Exchange Network (ORIEN) is a unique research partnership among North Americas top cancer centers that recognizes collaboration and access to data as the key to cancer discovery. Through ORIEN, founders Moffitt and The Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital and Richard J. Solove Research Institute in Columbus leverage multiple data sources and match patients to targeted treatments. Partners have access to one of the worlds largest clinically annotated cancer tissue repositories and data from more than 100,000 patients who have consented to the donation for research.

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Personalized Medicine | Moffitt

At Montefiore, our approach to genetic testing and research demonstrates a unique recognition of the increasing importance of this field. We are one of the only institutions worldwide to have placed our Division of Reproductive Genetics within our Obstetrics & Gynecology Department, rather than within pediatrics, which allows our patients to receive highly specialized care before and during all stages of their pregnancies.

With our ever-growing knowledge of genetics, our approach to prenatal care and overall healthcare for women incorporates a new range of interventions and treatments. We are expanding the field further with ongoing research and patient care, and by training the next generation of experts through Montefiore's affiliation with the Albert Einstein College of Medicine.

Our doctors are among only a few nationally who have a specialty in medical genetics coupled with a foundation in gynecology. Women can expect comprehensive care that addresses all aspects of their own health and prenatal needs.

When a pregnant woman receives an ultrasound at Montefiore, we apply our expertise in genetics to look for Down Syndrome and other syndromes and birth defects, whether related to chromosomes or single genes. We continually expand our expertise by performing more than 1,500 amniocenteses annually. Our doctors have published many papers on topics related to unusual ultrasounds.

Montefiore's range of experts and well-coordinated services offer patients complete care without the stress of traveling between multiple sites. Such centralized treatment is especially important because of the emotional and physical stress of dealing with a serious problem. After managing women's care for more than 30 years, we have ample experience synchronizing treatments between departments such as Gynecology, Obstetrics, Pathology and Psychiatry.

We are also expanding our work on the link between genetics and infertility, including male infertility. Those seeking infertility treatments, such as in vitro fertilization, can talk to our expert geneticists about the latest advancements in the field in genetic counseling.

And because we work closely with our colleagues in pediatrics, our patients can be confident that they will receive informed, caring treatment through every stage of pregnancy and childbirth.

We are also committed to expanding our expertise in the field of cancer genetics specific to women, including testing for:

As we gain a greater understanding of the genes that predispose people to specific cancers, we are able to save lives by using a complete family history and genetic testing to identify patients who may be at risk.

Women can now receive therapies to treat and prevent cancer earlier than ever before. Montefiore's leadership in the field is evident in the increasing number of patients who are referred to us by doctors at other medical centers in the region because of our state-of-the-art care.

Please print and fill out the Genetics Questionnaire before your appointment with the geneticist or genetic counselor because it will be helpful for us. If you have medical records or family records, please bring them with you to your appointment.

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Genetic Counseling - Bronx - Westchester - New York ...

Directions to CHDD from Main Information Desk at UWMCThe Patient Information Desk on the main (3rd Floor) of UWMC has detailed directions and a map to CHDD and may be able to provide an escort. From the Information Desk take the Pacific Elevators to the 1st Floor of the hospital. Walk through the Plaza Caf and exit the back glass doors of the hospital. CHDD is the four story brick building directly across the street. Check in at the reception desk on the main (2nd Floor) of CHDD.

Access the lot from 15th Avenue N.E. Stop at gate house 6 to obtain a parking permit.

Look for CHDD- designated or UWMC disability parking stalls. Walk out of S1 at the east end and enter CHDD Clinic building. Patients can be dropped off at the CHDD entrance from which vehicles can return to S1 for parking. A cash payment of $15.00 is required upon entry. Please leave the permit on your dashboard. A partial discount voucher will be given at appointment check-in for patients or family members.

CHDD Parking Brochure (PDF)

Disability ParkingFor All CHDD patients and families with mobility parking needs, the closest parking is in the S1 Garage. Please request a disability placard at the gate house. A cash payment of $15.00 is required upon entry. Please leave the permit on your dashboard. A partial discount voucher will be given at appointment check-in for patients or family members. Valet parking is available at the main entrance of the Medical Center; wheelchairs and escort services are available from the Information Desk.

Valet ParkingValet parking service for patients and their visitors is located in front of the Medical Center, near the main entrance. Allow extra time if you choose to use valet parking.

From valet service, walk east to the main entrance of UWMC. The Information Desk has detailed directions and a map to CHDD and may be able to provide an escort.Triangle Parking GarageThe Triangle Parking Garage is located on N.E. Pacific Place, across the street from UW Medical Center. From Montlake Blvd., turn left onto N.E. Pacific Street and right onto N.E. Pacific Place. The Triangle Garage has a height restriction of 6 8. Allow extra time if you choose to use the Triangle Parking Garage.From the Triangle Garage, take the pedestrian tunnel to the front entrance of the UWMC. The Information Desk has detailed directions and a map to CHDD and may be able to provide an escort.

Surgery Pavilion Parking GarageThe Surgery Pavilion Parking Garage is accessed off of N.E. Pacific Street next to the Emergency Room entrance. The Surgery Pavilion has a height restriction of 9 6 on Level P1. Levels P2 & P3 (2nd & 3rd floor) have a height restriction of 6 7. Allow extra time if you choose to use the Surgery Pavilion Parking Garage.

From the Surgery Pavilion Parking Garage, take the elevator to the third floor. Walk across the pedestrian overpass to the main hospital building lobby. The Information Desk has detailed directions and a map to CHDD and may be able to provide an escort.Payment Rates for parking in S-1, Valet, Triangle, Surgery Pavilion:Patients parking in S-1 will need to pay $15 up front which will be partially reimbursed with validation upon exiting the parking lot (see rates for parking in link above). Credit/Debit cards will be reimbursed on the card, while patients paying cash will be given a cash reimbursement.

Getting to UW Medical Center

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Genetic Medicine Clinic at UW Medical Center | UW Medicine

Maternalfetal medicine (MFM) (also known as perinatology) is a branch of medicine that focuses on managing health concerns of the mother and fetus prior to, during, and shortly after pregnancy.

Maternalfetal medicine specialists are physicians who subspecialize within the field of obstetrics.[1] Their training typically includes a four-year residency in obstetrics and gynecology followed by a three-year fellowship. They may perform prenatal tests, provide treatments, and perform surgeries. They act both as a consultant during lower-risk pregnancies and as the primary obstetrician in especially high-risk pregnancies. After birth, they may work closely with pediatricians or neonatologists. For the mother, perinatologists assist with pre-existing health concerns, as well as complications caused by pregnancy.

Maternalfetal medicine began to emerge as a discipline in the 1960s. Advances in research and technology allowed physicians to diagnose and treat fetal complications in utero, whereas previously, obstetricians could only rely on heart rate monitoring and maternal reports of fetal movement. The development of amniocentesis in 1952, fetal blood sampling during labor in the early 1960s, more precise fetal heart monitoring in 1968, and real-time ultrasound in 1971 resulted in early intervention and lower mortality rates.[2] In 1963, Albert William Liley developed a course of intrauterine transfusions for Rh incompatibility at the National Women's Hospital in Australia, regarded as the first fetal treatment.[3] Other antenatal treatments, such as the administration of glucocorticoids to speed lung maturation in neonates at risk for respiratory distress syndrome, led to improved outcomes for premature infants.

Consequently, organizations were developed to focus on these emerging medical practices, and in 1991, the First International Congress of Perinatal Medicine was held, at which the World Association of Perinatal Medicine was founded.[2]

Today, maternal-fetal medicine specialists can be found in major hospitals internationally. They may work in privately owned clinics, or in larger, government-funded institutions.[4][5]

The field of maternal-fetal medicine is one of the most rapidly evolving fields in medicine, especially with respect to the fetus. Research is being carried on in the field of fetal gene and stem cell therapy in hope to provide early treatment for genetic disorders,[6] open fetal surgery for the correction of birth defects like congenital heart disease,[7] and the prevention of preeclampsia.

Maternalfetal medicine specialists attend to patients who fall within certain levels of maternal care. These levels correspond to health risks for the baby, mother, or both, during pregnancy.[8]

They take care of pregnant women who have chronic conditions (e.g. heart or kidney disease, hypertension, diabetes, and thrombophilia), pregnant women who are at risk for pregnancy-related complications (e.g. preterm labor, pre-eclampsia, and twin or triplet pregnancies), and pregnant women with fetuses at risk. Fetuses may be at risk due to chromosomal or congenital abnormalities, maternal disease, infections, genetic diseases and growth restriction.[9]

Expecting mothers with chronic conditions, such as high blood pressure, drug use during or before pregnancy, or a diagnosed medical condition may require a consult with a maternal-fetal specialist. In addition, women who experience difficulty conceiving may be referred to a maternal-fetal specialist for assistance.

During pregnancy, a variety of complications of pregnancy can arise. Depending on the severity of the complication, a maternal-fetal specialist may meet with the patient intermittently, or become the primary obstetrician for the length of the pregnancy. Post-partum, maternal-fetal specialists may follow up with a patient and monitor any medical complications that may arise.

The rates of maternal and infant mortality due to complications of pregnancy have decreased by over 23% since 1990, from 377,000 deaths to 293,000 deaths. Most deaths can be attributed to infection, maternal bleeding, and obstructed labor, and their incidence of mortality vary widely internationally.[10] The Society for Maternal-fetal Medicine (SMFM) strives to improve maternal and child outcomes by standards of prevention, diagnosis and treatment through research, education and training.[11]

Maternalfetal medicine specialists are obstetrician-gynecologists who undergo an additional 3 years of specialized training in the assessment and management of high-risk pregnancies. In the United States, such obstetrician-gynecologists are certified by the American Board of Obstetrician Gynecologists (ABOG) or the American Osteopathic Board of Obstetrics and Gynecology.

Maternalfetal medicine specialists have training in obstetric ultrasound, invasive prenatal diagnosis using amniocentesis and chorionic villus sampling, and the management of high-risk pregnancies. Some are further trained in the field of fetal diagnosis and prenatal therapy where they become competent in advanced procedures such as targeted fetal assessment using ultrasound and Doppler, fetal blood sampling and transfusion, fetoscopy, and open fetal surgery.[12][13]

For the ABOG, MFM subspecialists are required to do a minimum of 12 months in clinical rotation and 18-months in research activities. They are encouraged to use simulation and case-based learning incorporated in their training, a certification in advanced cardiac life support (ACLS) is required, they are required to develop in-service examination and expand leadership training. Obstetrical care and service has been improved to provide academic advancement for MFM in-patient directorships, improve skills in coding and reimbursement for maternal care, establish national, stratified system for levels of maternal care, develop specific, proscriptive guidelines on complications with highest maternal morbidity and mortality, and finally, increase departmental and divisional support for MFM subspecialists with maternal focus. As Maternalfetal medicine subspecialists improve their work ethics and knowledge of this advancing field, they are capable of reducing the rate of maternal mortality and maternal morbidity.[14]

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Maternalfetal medicine - Wikipedia

This workshop offers guidelines for creating the first draft of a scientific research paper, as well as addressing revision strategies. You'll also learn what distinguishes a strong research paper from a weak one. The workshop presenter is Jeff Wesner, Assistant Professor, Department of Biology. DISTANCE STUDENTS: to attend live online, log into D2L and select the Online Writing Center (if you don't see the link, email wcenter@usd.edu to be added). Under Communications, select Collaborate Ultra. Then, select the link for the current workshop.

Presenter: Angela Campbell, MD, MPH, FAAP, FPIDS, FIDSA, Medical Officer, Influenza Division, Center for Disease Control, Atlanta, GALocation: Sanford USD Medical Center, Schroeder Auditorium, Videoconferenced to registered videoconferencing sites.

Company representatives will be available to discuss their job and internship opportunities and answer your questions. All majors and years welcome.

"Systems Based Practice" - Michael Wilde, M.D., FACP, Vice President Medical Officer, Sanford, Sioux Falls

Stop by to learn about a variety of internship opportunities.

South Dakota middle school and high school students take part in several scientific events throughout the USD campus starting at 9:00 am. The opening ceremony will start at 8:30 am in Aalfs Auditorium, Slagle Hall. The awards ceremony will start at 5:00 pm in Aalfs Auditorium, Slagle Hall.South Dakota Science Olympiad605-658-5973sdscienceolympiad@usd.edu

IdeaFest is an annual campus event celebrating student research, creative scholarship and academic engagement. Undergraduate and graduate students in all disciplines present their work in oral and poster presentations, live performances, readings, exhibits and displays. Keynote speakers are invited to present their involvement in similar endeavors.

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Sanford School of Medicine | USD

Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head () with a . Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged () appearance. People with achondroplasia are generally of normal intelligence.

Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back () and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine () and back pain. A potentially serious complication of achondroplasia is , which is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking. Another uncommon but serious complication of achondroplasia is hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities.

Link:
Achondroplasia - Genetics Home Reference - NIH

Yoav Gilad, PhD

Chief, Section of Genetic Medicine

University of ChicagoDepartment of Medicine

The Section of Genetic Medicine was created over 10 years ago to both build research infrastructure in genetics within the Department of Medicine and to focus translational efforts related to genetics. As a result, the Section of Genetic Medicine is shaping the future of precision medicine with very active and successful research programs focused on the quantitative genetics, systems biology and genomics, and bioinformatics and computational biology. The Section provides extremely valuable collaborations with investigators in the Department of Medicine who are seeking to develop new and more powerful ways to identify genetic risk factors for common, complex disorders with almost immediate clinical application.

The Section of Genetic Medicine continues to shape the future of personalized medicine with successful research programs focused on the quantitative genetic and genomic science. The Section provides extremely valuable collaborations with investigators in the Department of Medicine who are seeking to develop new and more powerful ways to identify genetic risk factors for common, complex disorders with almost immediate clinical application.

The Section of Genetic Medicine conducts impactful investigations focused on quantitative genetics, systems biology and genomics, bioinformatics and computational biology. Some highlights from the past year include:

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Genetic Medicine - University of Chicago - Department of ...

Goutham Narla, MD, PhD, Chief, Division of Genetic Medicine

As use of genomic technologies continue to increase in research and clinical settings, the Division of Genetic Medicine serves a key role in bringing together basic, clinical, and translational expertise in genomic medicine, with multidisciplinary faculty comprised of MDs, PhD scientists, and genetic counselors. Demand for expertise in genetics continues to increase, and the Division of Genetic Medicine is committed to advancing scientific discovery and clinical care of patients.

In addition to our Medical Genetics Clinic, genetics services are available through several other Michigan Medicine clinics and programs, including the Breast and Ovarian Cancer Risk Evaluation Program, Cancer GeneticsClinic,Inherited Cardiomyopathies and Arrhythmias Program,Neurogenetics Clinic, Pediatric Genetics Clinic, and Prenatal Evaluation Clinic.

Our faculty are focused on various research areas including cancer genetics, inherited hematologic disorders, neural stem cells,the mechanisms and regulation of DNA repair processes in mammalian cells, predictive genetic testing,understanding the mechanisms controlled by Hox genes, birth defects, bleeding and thrombotic disorders, and human limb malformations.

Division of Genetic Medicinefaculty are actively engaged in the education, teaching, and mentorship of clinicians, and clinical and basic scientists, including undergraduate and graduate students, medical students, residents, and fellows from various subspecialties.

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Genetic Medicine | Internal Medicine | Michigan Medicine ...

');$.get(url, function(data){$('.rightNav-wp-' + idx).html(data);});}var rightPanel = $('#rightpanel');if (rightPanel.length == 0) rightPanel = $('#rightpanel-placeholder');$.each(webparts, function(i,e){addWp(i,e);});}if (!window.location.origin) {window.location.origin = window.location.protocol + '//' + window.location.host;}var pn = _spPageContextInfo.serverRequestPath.replace(/^//ig,''),pNames = [], curSite,webparts = UHNPageData.siteWebParts ? UHNPageData.siteWebParts.rows : []; // from XSLTDataViewWebpartwhile (pn.indexOf('/') > 0) {pNames.push(pn);pn = pn.substr(0, pn.lastIndexOf('/'));}pNames.push(pn);for (var i = 0; i 0) {continue;}curSite = webparts[j];j = webparts.length;i = pNames.length;}}}if (curSite === undefined) {curSite = webparts.filter(function(e){return e.Title == 'Global';})[0];if (curSite === undefined) return reloadSiteWebParts();}if (!curSite.HideRightNav) {generateHTML(curSite.Webparts);$('#rightpanel').show();} else {HideRightNav = curSite.HideRightNav;$('#rightpanel').hide();}$('#MSO_ContentTable').toggleClass('col-sm-9', !curSite.HideRightNav);}window.HideRightNav = false;window.safetyAttempts = 0;initRightNav();$(function(){var userGroup = [2164];if (_spPageContextInfo.userId) {$().SPServices({operation: 'GetUserCollectionFromGroup',groupName: 'Designers',completefunc: function (xDataUser, Status) {$(xDataUser.responseXML).find("User").each(function() {userGroup.push(parseInt($(this).attr("ID").trim()));});if ($.inArray(_spPageContextInfo.userId, userGroup) > -1) {$('#title-links ul').prepend('

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About the Fred A. Litwin Family Centre in Genetic Medicine

What does it mean to be a genetic counseling student?

At the University of South Carolina it means you become part of the team from day one: an engaged learner in our genetics center.You'll have an experienced faculty who are open door mentors in your preparation for this career.

You'll have access in the classroom and in the clinic to the geneticist and genetic counselor faculty in our clinical rotation network oftwelve genetic centers. The world of genetic counseling will unfold for you in two very busy years, preparing you to take on the dozens of roles open to genetic counselors today.

Rigorous coursework, community service, challenging clinical rotations and a research-based thesis will provide opportunity for tremendous professional growth.

We've been perfecting our curriculum formore than 30 years to connect the knowledge with the skills youll need as a genetic counselor. Our reputation for excellence is known at home and abroad. We carefully review more than 140 applications per year to select thenine students who will graduate from the School of Medicine Genetic Counseling Program. Our alumni are our proudest accomplishment and work in the best genetic centers throughout the country. They build on our foundation to achieve goals in clinical care, education, research and industry beyond what we imagined.

First in the Southeast and tenth in the nation, we are one of 39 accredited programs in the United States. We have graduatedmore than 200 genetic counselors, many of whom are leading the profession today.

Weve received highly acclaimed Commendations for Excellence from the South Carolina Commission of Higher Education. American Board of Genetic Counseling accreditation was achieved in 2000, reaccreditation in 2006 and, most recently, theAccreditation Council for Genetic Counselingreaccreditation was awarded, 2014-2022.

You'll have the chance to form lifelong partnerships with our core and clinical rotation faculty. Build your professional network with geneticists and genetic counselors throughout the Southeast.

One of our program's greatest assets is our alumni. This dedicated group regularly teaches and mentors our students,serves on our advisory board, and raises money for our endowment.You'll enjoy the instant connection when meeting other USC Genetic Counseling graduates. As a student, you'll benefit from the alumni networkand all they have to offer you. Check out our Facebook group.

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Genetic Counseling - School of Medicine | University of ...

Even with the success of the Human Genome Project, there still isn't a genetic test for every disease. A disease may run in a family and clearly be inherited, but the gene responsible may not be identified yet. Our team will see if there is a genetic test available for the condition running in your family.

If a test exists, we will find the best laboratory to use. Some laboratories offer clinical testing and must follow federal quality control standards. Clinical laboratories typically quote a fixed price and a standard return time for results.

Other laboratories offer research testing and are usually linked to academic centers and universities. They do testing at no cost in most cases. Often research laboratories do not provide results. If they do, it may take months or years to deliver results. Research test results should be confirmed in a clinical laboratory if medical management is based on the result.

Testing costs and turnaround times vary. Genetic test results are usually ready in three to four weeks. Though genetic testing costs are often paid for by insurance carriers, patients may be required to pay some or all of the cost when the test is ordered. When indicated we can write a letter of medical necessity explaining the benefits genetic testing might have for you. This can often increase the likelihood that your insurance company will pay for the testing.

Not everyone who has a genetic disease will have a mutation or a biochemical abnormality that shows up in testing. Because of this limitation, in a family it makes sense to first test someone who has had the disease in question.

If a genetic risk factor is found, ways of managing or preventing the disease due to that genetic risk can be discussed. Additionally, at-risk relatives can check their own status by testing for that specific risk factor. If that specific genetic risk factor is not found in an at-risk relative (i.e., they have a normal test result), he or she can be reassured. If the at-risk relative has a positive genetic test result, he or she has a greater chance of getting the condition. Relatives whose risk has been confirmed can start screening and prevention practices targeted for their genetic risk.

Sometimes testing a family member who has the disease isn't possible. (The person may be dead, unavailable or unwilling to be tested.) Then, an unaffected person can take the test. Finding a genetic risk factor will certainly give useful information. But a normal test result doesn't always mean there's no risk. Many genes responsible for an inherited susceptibility are not yet known. In other words, a normal test result can exclude the genetic risk factors that have been tested but not the possibility of an inherited susceptibility. It may be valuable to test other family members.

If you were to have genetic testing it would be important to interpret your test results in light of your personal and family medical history. We will also identify family members who might benefit from genetic consultation and genetic testing. If necessary, we can provide referrals for relatives outside the Denver area.

If you test positive for a genetic condition, you can better understand how this condition arose in you and your relatives. If you do not yet have symptoms, you can start to plan for the future, such as planning for a family, career, and retirement. You might want to start seeing specialists to help manage the condition. Preventive actions may be useful as well. Drugs, diet and lifestyle changes may help prevent the disease improve treatment.

Close relatives might value having this information. They can go through testing themselves to determine their disease risks and the best treatment approach.

If you test negative for a genetic risk factor that is known to run in your family you may be relieved that a major risk factor has been excluded.

Diagnosing a genetic condition does not tell us how or when the disease will develop. Although DNA-based genetic testing is very accurate, there is a chance that an inherited mutation will be missed. If a mutation is not found, the test results cannot exclude the possibility of an inherited risk since there may be a mutation in another gene for which testing was not done. If you still have symptoms of a genetic condition, a normal test result might not get you 'off the hook'. An inherited disease risk can only be excluded if a known mutation in the family has been excluded.

Family relationships may be affected by this information. If you have a genetic condition, other family members might benefit by also knowing. In the process of sharing your genetic risk information, family members may learn things about you that you do not want known. In addition, you may learn things about relatives that you did not want to know. For example, it may be revealed that a family member is adopted.

Some people find it hard to learn that they carry a gene that makes their risk of developing a disease greater. They may feel many emotions, including anger, fear about the future, anxiety about their health or guilt about passing a mutation on to their children. They may be shocked by the news. They may go through denial or a change in their self-esteem.

Knowing that you have a higher risk of getting a particular disease (when you don't currently show symptoms) may affect your ability to be insured (health, life and disability). Several state and federal laws prohibit use of genetic information by health insurance companies. In general, health insurers cannot use this information as a pre-existing condition that could disqualify you when applying for new insurance. Genetic information cannot be used to raise premium payments or to deny coverage. However, these laws are not fully comprehensive and may not entirely prevent discrimination. You may want to contact your insurance company to see what effect, if any, genetic testing may have on your coverage.

Sometimes genetic test results are uninformative or ambiguous, making it difficult or impossible to say if a person has a higher risk. These ambiguous results can be the most difficult as they don't provide a clear-cut answer.

For people with normal test results, where the genetic risk in the family has been excluded, a variety of emotions might occur. Most people feel tremendous relief. Others may feel survivor guilt, wondering why they were spared the risk. This can sometimes lead to changes in relationships between family members.

In some cases, an inherited risk for disease seems likely but the gene responsible has not yet been identified. The Adult Medical Genetics Program can help link families with researchers studying that disease. We can contact researchers for you and help you become part of the gene discovery studies. Although being part of research studies doesn't always give you answers, it does allow you to contribute to science.

Continued here:
Information about Genetic Testing | School of Medicine ...

Posted by Ardent Editor on July 23rd, 2007

One of the most promising uses for genetic modification being eyed in the future is on the field of medicine. There are a number of advances already being done in the field of genetic modification that may be able to allow researchers to someday be able to develop a wide range of medicines that will be able to treat a variety of diseases that current medicines may not be able to.

There are many ways that genetic modification can be used in the development of new medicines in the future. One of them is in the production of some human therapeutic proteins which is used to treat a variety of diseases.

Current methods of producing these valuable human proteins are through human cell cultures but that can be very costly. Human proteins can also be purified from the blood, but the process always has the risk of contamination with diseases such as Hepatitis C and the dreaded AIDS. With genetic modification, these human proteins can be produced in the milk of transgenic animals such as sheep, cattle and goats. This way, human proteins can be produced in higher volumes at less cost.

Genetic modification can also be used in producing so-called nutriceuticals. Through this genetic modification can be used in producing milk from genetically modified animals in order to improve its nutritional qualities that may be needed by some special consumers such as those people who have an immune response to ordinary milk or are lactose intolerant. That is just one of the many uses that genetic modification may be able to help the field of medicine in trying to improve the quality of life.

Other ways of using genetic modification in the field of medicine concern organ transplants. In is a known fact to day that organ transplants are not that readily available since supply for healthy organs such as kidneys and hearts are so very scarce considering the demand for it. With the help of genetic modification, the demand for additional organs for possible transplants may be answered.

Genetic modification may be able to fill up the shortfall of human organs for transplants by using transgenic pigs in order to provide the supply of vital organs ideal for human transplants. The pigs can be genetically modified by adding a specific human protein that will be able to coat pig tissues and prevent the immediate rejection of the transplanted organs into humans.

Although genetic modification may have a bright future ahead, concerns still may overshadow its continuous development. There may still be ethical questions that may be brought up in the future concerning the practice of genetic modification. And such questions already have been brought up in genetically modified foods.

And such questions may still require answers that may help assure the public that the use of genetic modification in uplifting the human quality of life is sound as well as safe enough. Public acceptance will readily follow once such questions have been satisfactorily answered.

See the article here:
Genetic Modification in Medicine | gm.org

The field of genetics has long been an object of global fascination, beginning with Mendels pea plant experiments in the 19th century and peaking when the human genome was sequenced (albeit not completely) in 2003. But epigenetics as the next level up from genetics is still mysterious to most. Efforts are already underway to make this next leap in our therapeutic understanding of DNA to unlock the potential of epigenetics.

Genetics has gone mainstream and people get really excited about it, but when I tell people I work on epigenetics, I have to explain what I do, laughed Dr. Jason Mellad, CEO of Cambridge Epigenetix.

While there has been much excitement as epigenetics advances with the development of diagnostics, therapeutic applications are still in their infancy. Historically, epigenetic discovery has been expensive, the right tools havent existed to do it, and interpreting the data has been challenging, he explained.

Mellad and his company are working to change that by establishing themselves in diagnostics to lay the groundwork for more diverse applications. Initially, we sold kits to academic researchers so that they could examine how certain enzymes regulate interpretation of the genetic code, he explained to me in an interview after ON Helix. We started there to prove ourselves and enable discovery; now we are harnessing the power of epigenetics in diagnostics and thereby laying the foundation for new therapeutics.

Cambridge Epigenetix was spun out of its eponymous university to address a challenge a colleague lobbed at Sir Shankar Balasubramanian, Professor of Medicinal Chemistry at the University of Cambridge. Professor Balasubramanian co-invented the sequencing-by-synthesis platform at the heart of Solexa, which was subsequently snapped up by DNA sequencing giant Illumina.

As Mellad recounted, the colleague noticed that a particular epigenetic enzyme, TET2, is highly mutated in acute myeloid leukemia and produces a new DNA modification called 5-hydroxymethylcytosine (5hmC). Balasubramanianwondered, could this modification be detected by sequencing and used as a novel diagnostic epigenetic biomarker?

A DNA methyltransferase, DNMT3, which transfers methyl groups in DNA to regulate gene expression and activity. Such an enzyme could serve as a target for epigenetic medicine.

Balasubramanian and his PhD student, Michael Booth, took on the challenge and developed a selective chemical oxidation methodology that made it possible to accurately and quantitatively sequence 5hmC and other methylated variants of the DNA base cytosine for the first time. On the heels of its 2012 publication in Science, Cambridge Epigenetix was born with this methodology as its foundational platform.

The following year, Mellad was recruited for business development as Employee #3. We were still camped out in the lab at that point, he told me. But it soon built up steam: After its first fundraising round in 2014, the company went on to raise a $21M (18M) Series B led by none other than Google Ventures (GV). GV was excited by the tech and the team, but they also saw the potential and long-term vision, said Mellad.

So what was this promise that Google saw in epigenetics? Big companies seem to be rushing to jump on board: AstraZeneca has already launched its own exploration of the field with MRC Technology, now known as LifeArc. Could epigenetics be the next generation of genetic medicine?

Though the field still feels brand new, there are a handful of epigenetic drugs already on the market. These drugs are largely histone deacetylase (HDAC) inhibitors targeted at T cell lymphomas; the most recent approval went to Belinostat, which was developed by a formerly Copenhagen-based company known as TopoTarget, now part of the French Onxeo.

Epigenetics has taken a particularly strong hold in the cancer niche. As scientists from Harvard Medical School and the Broad Institute discussed in a Science review last July, recent cancer genome projects [have] unexpectedly highlighted the role of epigenetic alterations in cancer development and suggested that these changes are responsible for the so-called hallmarks of cancer.

Unfortunately, HDAC inhibitors seem to have limited use in this arena. A pair of Italian researchers concluded in the British Journal of Cancer that they are effective on a small set of [cancer] patients with selected hematological diseases, but their use as a monotherapy has not been satisfactory. The efficacy of these drugs has been marred by individual sensitivities to them that are difficult to untangle such that patient stratification is not an option.

A German company, 4SC, has taken heed of such findings, combining its lead candidate resminostat with Bayers kinase inhibitor, Nexavar (sorafenib). In January, 4SC was able to show that its HDAC in tandem with this first-line liver cancer treatment reducedthe risk of death and extended patient survival from 5.1 months to 13.7 months.

The hallmarks of cancer (Source)

Carlos Buesa, Founder and CEO of Oryzon Therapeutics, is optimistic about the rise of a new generation of epigenetic treatments that his company is leading. Weve seen very recently that the second generation of epigenetic modulators could be druggable in a selective manner overcoming the problems that the old-fashioned HDAC inhibitors have gone through, he told me at BIO Europe Spring earlier this year.

His Barcelona-based company, founded in 2000, is leading the charge in this direction. Its lead candidate ORY-1001 just cleared Phase I for acute leukemia and is under investigation in small cell lung cancer. It inhibits lysine specific demethylase 1 (LSD1), which in 2004 became the first histone demethylase to be discovered of approximately 30 thus far described.

LSD1 is thought to play a role in epigenetic reprogramming during cell proliferation among other biological processes, making it an attractive target for potential cancer therapies. We know now that its key to hematopoietic differentiation in normal progenitors, and we know that in some cancers its responsible for the differentiation blockade, as in some leukemias, Buesa said.

The role of epigenetics in cancer (Source)

Oryzon presented its Phase I/IIa results at the American Society for Hematology conference last fall: ORY-1001 proved itself to be safe and likely effective, on top of indicating a number of useful biomarkers to monitor patient responses. We were the first company to ever present [clinical] results with such an inhibitor, Buesa told me proudly. More recently, 4SC launched a program to develop an LSD1 inhibitor, 4SC-202, but it has yet to enter the clinic.

For the Oryzon, much has been riding on the success of ORY-1001: Having been shown to provoke the differentiation of cancer cells accompanied by a preliminary clinical response, it now serves as the companys proof of concept.

Even though Roche abandoned the biotech when it reprioritized its portfolio, Oryzon is pressing on, so far alone. Were seeing now that this is opening a door for a personalized approach, and its giving us information about diseases that have an underlying epigenetic component, said Buesa, explaining the companys determination to move ahead.

Though approved epigenetic drugs are limited to oncology, applications to other indications are also receiving attention. A recent mouse study published by the American Society for Microbiology in mBio suggested they might work as antivirals that would be effective against Herpes Simplex Virus, while an investigation into the treatment of HIV/AIDS is still at an early stage. Various neurodegenerative diseases are also topics of interest.

In order to build a foundation for the development of such a wide range of therapeutics, Cambridge Epigenetix plans to continue its technology and diagnostic development programs to illuminate epigenetic signatures that improve our understanding of biology to develop better therapeutics, said Mellad. Whats important is to first understand the biology.

Thats the sticking point for epigenetics at the moment: as reflected in the global scarcity of biotechs in the space, its still such new territory with a largely unknown extent that effective therapeutics may be an overreach.

As an intermediate step, Cambridge Epigenetix hopes that its diagnostic assays will become standard screening practice before treatment decisions, since, as he argues, the epigenetic versions are more effective than their genetic counterparts. Were developing a companion diagnostic strategy to be used from day one to get the best efficacy and patient outcomes, Mellad told me. Genetic sequencing is informative, but epigenetics is better for monitoring and predicting responses [to treatments].

Such an addition is already an important dimension of checkpoint inhibitor regimens as pharmas like Bristol-Meyers Squibb and Merck compete to dominate the niche. BMS was quick to knock the necessary genetic test for its rivals candidate, Keytruda, as cumbersome, while its own comparatively easy drug, Opdivo, maintainednearly a half billion-dollar sales lead in the first half of 2016.

The tide turned in May this year when the FDA approved Keytruda for solid tumors with a specific genetic signature. For the first time in history, cancer was classified not by location but by the genetic mutation believed to be at its root.

Keytrudas biomarker approval changed how people see diagnostics like the ones were working on,Mellad continued, hailing the FDA decision as a milestone for not just cancer genetics but epigenetics as well. And, Mellad said, this grown-up version of genetics could be even more useful, since epigenetics provides a more nuanced view of responses to therapeutics as a mirror of the bodys dynamic response to its environment.

More and more companies are jumping on board, making epigenetics increasingly mainstream versus a niche, remarked Mellad. As personalized medicine takes hold and such drugs become more successful in the treatment of diseases like cancer, epigenetics may soon capture the public imagination following in the footsteps of its predecessor.

Images via petarg, Leigh Prather, ESB Professional / shutterstock.com

Read this article:
The Next Generation of Genetic Medicine: A Review of Epigenetics - Labiotech.eu (blog)