StemCell Therapy

The story so far: The Council of Scientific and Industrial Research (CSIR) recently announced the conclusion of a six-month exercise (from April 2019) of conducting a whole-genome sequence of a 1,008 Indians. The project is part of a programme called IndiGen and is also seen as a precursor to a much larger exercise involving other government departments to map a larger swathe of the population in the country. Project proponents say this will widen public understanding in India about genomes and the information that genes hide about ones susceptibility to disease.

A genome is the DNA, or sequence of genes, in a cell. Most of the DNA is in the nucleus and intricately coiled into a structure called the chromosome. The rest is in the mitochondria, the cells powerhouse. Every human cell contains a pair of chromosomes, each of which has three billion base pairs or one of four molecules that pair in precise ways. The order of base pairs and varying lengths of these sequences constitute the genes, which are responsible for making amino acids, proteins and, thereby, everything that is necessary for the body to function. It is when these genes are altered or mutated that proteins sometimes do not function as intended, leading to disease.

Sequencing a genome means deciphering the exact order of base pairs in an individual. This deciphering or reading of the genome is what sequencing is all about. Costs of sequencing differ based on the methods employed to do the reading or the accuracy stressed upon in decoding the genome. Since an initial rough draft of the human genome was made available in 2000, the cost of generating a fairly accurate draft of any individual genome has fallen to a tenth, or to a ball park figure of around $1,000 (70,000 approximately). It has been known that the portion of the genes responsible for making proteins called the exome occupies about 1% of the actual gene. Rather than sequence the whole gene, many geneticists rely on exome maps (that is the order of exomes necessary to make proteins). However, it has been established that the non-exome portions also affect the functioning of the genes and that, ideally, to know which genes of a persons DNA are mutated the genome has to be mapped in its entirety. While India, led by the CSIR, first sequenced an Indian genome in 2009, it is only now that the organisations laboratories have been able to scale up whole-genome sequencing and offer them to the public.

Under IndiGen, the CSIR drafted about 1,000 youth from across India by organising camps in several colleges and educating attendees on genomics and the role of genes in disease. Some students and participants donated blood samples from where their DNA sequences were collected.

Globally, many countries have undertaken genome sequencing of a sample of their citizens to determine unique genetic traits, susceptibility (and resilience) to disease. This is the first time that such a large sample of Indians will be recruited for a detailed study. The project ties in with a much larger programme funded by the Department of Biotechnology to sequence at least 10,000 Indian genomes. The CSIRs IndiGen project, as it is called, selected the 1,000-odd from a pool of about 5,000 and sought to include representatives from every State and diverse ethnicities. Every person whose genomes are sequenced would be given a report. The participants would be informed if they carry gene variants that make them less responsive to certain classes of medicines. For instance, having a certain gene makes some people less responsive to clopidogrel, a key drug that prevents strokes and heart attack. The project involved the Hyderabad-based Centre for Cellular and Molecular Biology (CCMB), the CSIR-Institute of Genomics and Integrative Biology (IGIB), and cost 18 crore.

Anyone looking for a free mapping of their entire genome can sign up for IndiGen. Those who get their genes mapped will get a card and access to an app which will allow them and doctors to access information on whether they harbour gene variants that are reliably known to correlate with genomes with diseases. However, there is no guarantee of a slot, as the scientists involved in the exercise say there is already a backlog. The project is free in so far as the CSIR scientists have a certain amount of money at their disposal. The driving motive of the project is to understand the extent of genetic variation in Indians, and learn why some genes linked to certain diseases based on publications in international literature do not always translate into disease. Once such knowledge is established, the CSIR expects to tie up with several pathology laboratories who can offer commercial gene testing services.

Original post:
What is 'IndiGen' project that is sequencing Indian genes? - The Hindu

SINGAPORE - The Rare Disease Fund (RDF) now covers Singaporeans with Pompe disease - a rare inherited neuromuscular disorder where patients can incur medical expenses in excess of $500,000 each year.

The committee overseeing the fund announced on Sunday (Nov 3) that citizens can now apply for financial aid to help with their medical expenses for the disease which affects about one in every 40,000 live births.

With the addition, the fund now covers four conditions including primary bile acid synthesis disorder; Gaucher disease; and hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiency.

The fund has approved two applications for financial support so far. One of the beneficiaries is Mr Geoffrey Toi, a public servant whose three-year-old son Christopher suffers from primary bile acid synthesis disorder.

The condition interferes with the production of bile acids and if untreated, can lead to liver failure.

The fund covers a larger portion of Christopher's medication costs, which is currently about $6,250 a month, as compared to Medifund Junior, which had previously subsidised part of his medical fees.

"It was a blessing when this fund was announced, because it specifically covered his condition. Every bit of help matters," said Mr Toi, 35.

The fund was launched by the Ministry of Health (MOH) and SingHealth Fund in July this year. It combines community donations and Government-matched contributions to provide aid for Singapore citizens with specific rare diseases.

Senior Minister of State for Health and Law Edwin Tong said on Sunday that the fund recently received significant support from Temasek and the Tsao Family Fund.

"The listing of Pompe is possible because we have so many generous benefactors who have stepped forward selflessly, with a lot of compassion, to donate to the RDF," he added.

The fund has grown from $70 million last July to about $90 million, with the government matching community donations by three to one.

In addition, the Government is funding all operational expenses involved in managing the fund, ensuring that all donations received will be used solely for supporting patients.

"We hope that philanthropists, companies, community groups and individuals will continue to come forward as a society, as a community to help support patients with rare diseases... As more funds are raised, the Rare Disease Fund can be expanded further to cover even more types of treatments and more patients in future," said Mr Tong, who was attending a community carnival organised by Mount Alvernia Hospital in support of the RDF.

The carnival in Punggol raised more than $200,000 for beneficiaries of the fund. The sum includes three-to-one government matching.

Rare diseases are defined by MOH as conditions that affect fewer than one in 2,000 people, and mostly are genetic and often surface during childhood. There are no official numbers on how many people in Singapore have such rare diseases.

In some cases, effective treatments are available and the medicines can substantially increase patients' life expectancies and improve quality of life.

However, MOH noted that these medicines can be very costly, going up to hundreds of thousands of dollars a year, and patients will often need to take them for the rest of their lives.

Pompe disease is caused by a defective gene that results in a deficiency of an enzyme.

It results in the excessive build-up of a substance called glycogen, a form of sugar that is stored in a specialised compartment of muscle cells throughout the body.

Symptoms of the disease include extreme muscle weakness and breathing difficulties. The progressive nature of the disease means that it worsens over time, with the speed of progression varying from patient to patient.

Mr Kenneth Mah, whose 10-year-old daughter Chloe has Pompe disease, cheered the move to cover the disease under the RDF.

While insurance covers much of her treatment cost now - which is in excess of $40,000 a month - it may not be enough in future as she gets older and needs more of medicine.

"It gives us a greater peace of mind," said Mr Mah, 49, who ended his mobile phone business to become the main caregiver for Chloe.

Mr Mah is also the co-founder of the Rare Disorders Society Singapore.

"We hope that the fund will be able to cover all rare disorders in the future, as it gets more support from society."

More information on the RDF is available at http://www.kkh.com.sg/rarediseasefund

Visit link:
Rare Disease Fund now covers Pompe disease, a rare inherited neuromuscular disorder - The Straits Times

The University of Michigan Genetic Counseling Programis one of the most well established programs in the country and exemplifies our long history of innovation in clinical service and education in genetics and genomics. Michigan graduates emerge as extremely well rounded genetic counselors, who are ready to meet the current challenges in clinical genomic medicine and are able to help guide the evolving practice of genetic counseling and genomic medicine.

The vision of the University of Michigan Genetic Counseling Program is to train genetic counselors that are able to meet the current challenges and to help shape the future of genetic counseling and genomic medicine.

Our mission is to provide an individualized, integrated and supportive graduate training environment comprised of:

Most importantly, our graduate training program is responsive to the interests and unique needs of individual students.

For more information about the U-M Genetic Counseling Program see our2020 Program Prospectus.You can also join us at either of our 'Open House' events:

Introduction to the UMGCP-WebinarOctober 2, 2019; 4-5:30 pm

Introduction to the UMGCP-Open House in Ann ArborOctober 18, 2019; 3-5 pm

Click the above links for details about the event and information on how to RSVP!

Contact us at UMGenetics@umich.edu.

The University of Michigan Masters in Genetic Counseling program is accredited by the Accreditation Council for Genetic Counseling (ACGC), located at 4400 College Blvd., Ste. 220, Overland Park, KS 66211, web addresswww.gceducation.org. ACGC can be reached by phone at 913.222.8668.

View original post here:
Genetic Counseling Program - medicine.umich.edu

Services We Offer

Services we offer include:

Learn More About Our Services

A genetics consult starts with a phone call from a genetic counseling assistant. The assistant will gather information about the reason for the visit, obtain a detailed history of any problems in the family (which is called a pedigree) and possibly request medical records from other providers or hospitals. Sometimes, the assistant may need sensitive information. During this first contact, if you do not want to come for a full visit or have concerns about sharing sensitive information, please let us know.

The first appointment will take about two hours.If the person who is referred is a child, they MUST come to the visit. Plan to arrive at least 30 minutes before your appointment time to allow ample time to get registered, complete forms and have measurements taken (height, weight, blood pressure).

You will meet with several healthcare providers at this visit. This will include a genetic counselor, a genetic nurse practitioner or genetics physician, and possibly a metabolic dietician.

A consult with genetics is more than having genetic testing. It includes a full assessment that consists of taking a detailed history, reviewing outside medical records and performing a complete exam. We will discuss possible conditions, provide genetic counseling and review what may be needed to establish a diagnosis. A decision about whether testing is required, and what kind of tests should be performed, will be discussed at the first visit.

In most cases, testing will not be done at that time. If testing is recommended, we will work with your insurance to get prior authorization and let you know when to return for testing.

A return visit with the nurse practitioner, geneticist or genetic counselor is often needed when test results are available. Our team will go over what the results mean and discuss any next steps. Genetic counseling will be provided at every step to ensure you understand what the results mean for the patient and the family. Finally, any needed additional tests will be ordered, and a care plan with specific treatments, if available, will be made.

Clinical services are supported partly by the Ohio Department of Health as a Regional Genetics Center of the State of Ohio, Region IV.

Kim L. McBride, MD, MS, is Division Chief of Genetic and Genomic Medicine at Nationwide Children's Hospital.

Dennis W. Bartholomew, MD, is Section Chief of Genetic and Genomic Medicine and Director of the Biochemical Genetics Laboratory in the Department of Laboratory Medicine at Nationwide Childrens Hospital and a Clinical Professor of Pediatrics at The Ohio State University College of Medicine.

Genetics ClinicTower Building, 4th Floor, Suite D700 Children's DriveColumbus, OH 43205(614) 722-3535FAX (614) 722-3546Metabolic ClinicTower Building, 4th Floor, Suite D700 Childrens DriveColumbus, OH 43205(614) 722-3543FAX (614) 722-3546Dublin Genetics ClinicDublin Medical Office Building5665 Venture DriveDublin, OH 43017(614) 722-3535FAX (614) 722-3546Tuesdays all day

Westerville Genetics ClinicClose To Home Center on N. Cleveland AvenueWesterville, OH 43082(614) 722-3535FAX (614) 722-3546Mondays 12:30 pm 5:00pm

Athens Outreach278 W. Union StreetAthens, OH 45701To schedule, call: (614) 592-4431FAX (614) 594-9929Held bimonthly on a Wednesday

Marietta OutreachMarietta City Health Department304 Putnam StreetMarietta, OH 45750To schedule, call: (740) 373-0611FAX (740) 376-2008Held bimonthly on a Wednesday

Waverly OutreachPike County General Health District14050 US23 NWaverly, Ohio 45690To schedule, call: (614) 722-3535Fax referral to: (614) 722-3546Office Phone: (740) 947-7721Office Fax (740) 947-1109Held bimonthly on a Wednesday

Zanesville OutreachMuskingham Valley Health Care719 Adair AvenueZanesville, Ohio 43701To schedule, call: (614) 722-3535Fax referral to: (614) 722-3546Held bimonthly on a Wednesday

22q CenterNationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 962-6373

Complex Epilepsy Clinic (Epilepsy Center)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000

Cleft Lip and Palate CenterNationwide Childrens Hospital700 Children's DriveSuite T5EColumbus, Ohio 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 962-6366Tues. 12:30 pm 5 pm

Cystic Fibrosis ClinicOutpatient Care Center, 5th Floor555 S. 18th StreetColumbus, OH 43205Phone: (614) 722-4766Fax: (614) 722-4755Tues PM, Wed PM, and Thurs PM

Down Syndrome Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-4050

Muscular Dystrophy Association(MDA)/Spinal Muscular Atrophy (SMA) ClinicOutpatient Care Center, 1st Floor555 S. 18th StreetColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-2203Wednesdays

Myelomeningocele Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-4050Friday AM

Prader-Willi Syndrome Clinic (Endocrinology)Outpatient Care Center, 5th Floor555 S. 18th StreetColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-44252nd Friday of the month

Williams Syndrome Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-40502nd Tuesday of the month

The mission of the Center for Gene Therapy is to investigate and employ the use of gene- and cell-based therapeutics for prevention and treatment of human diseases.

The Center for Cardiovascular Research conducts innovative research leading to improved therapies and outcomes for pediatric cardiovascular diseases and promotes cardiovascular health in adults.

Read more:
Genetic and Genomic Medicine - nationwidechildrens.org

Genetic medicine is the integration and application of genomic technologies allows biomedical researchers and clinicians to collect data from large study population and to understand disease and genetic bases of drug response. It includes genome structure, functional genomics, epigenomics, genome scale population genomics, systems analysis, pharmacogenomics and proteomics. The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease.

Related Journals of Genetic Medicine

Cellular & Molecular Medicine, Translational Biomedicine, Biochemistry & Molecular Biology Journal, Cellular & Molecular Medicine, Electronic Journal of Biology, Molecular Enzymology and Drug Targets, Journal of Applied Genetics, Journal of Medical Genetics, Genetics in Medicine, Journal of Anti-Aging Medicine, Reproductive Medicine and Biology, Romanian journal of internal medicine

Originally posted here:
Genetic Medicine | List of High Impact Articles | PPts ...

The Genetic Counseling Graduate Program at IU School of Medicine is a 21-month Masters level program thats accredited by the Accreditation Council for Genetic Counseling (ACGC). The program offers comprehensive training and hands-on clinical experience to prepare students for a challenging and rewarding career in genetic counseling. The programs faculty and staff are proud to have contributed to the training of accomplished genetic counselors for more than 25 years.

Students learn through a variety of courses on genetics, laboratory and psychosocial topics as well as through extensive clinical experience and individual clinical research. Graduates of this MS program are accomplished in all areas of genetic counseling, including cancer, prenatal and pediatric genetics, public health genomics and industry, and they have a strong record of success on the ABGC board examination.

The Genetic Counseling Graduate Program curriculumbegins with a fall semester of didactic courses and clinical observations that focus on the basics of human genetics and enable students to begin practical application of skills in clinical case research and preparation, medical documentation, and patient counseling in the clinical setting. Clinical rotations begin in the spring semester of the first year and continue throughout the summer semester and entire second academic year. Successful completion of the Genetic Counseling graduate program at IU School of Medicine leads to a Master of Science degree in medical genetics.

Students in this program are supervised by supportive, experienced, licensed certified genetic counselors and board-certified medical geneticists. The curriculum offers deep clinical experience, which requires active participation in all aspects of the case preparation, counseling and follow-up as well as experience across numerous specialty areas, including pediatrics, cancer, prenatal diagnostics, metabolism, cardiovascular genetics, neurogenetics, and more.

More here:
Master of Science in Genetic Counseling | Medical and ...

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a persons chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.

Several methods can be used for genetic testing:

Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

Originally posted here:
What is genetic testing? - Genetics Home Reference - NIH

An applicant must successfully complete requirements of both theUW-Madison Graduate Schooland the Master of Genetic Counselor Studies program (MCGS) to be considered a qualified applicant.

Most applicants have a balanced set of experiences, clear communication skills and strong letters of recommendations as well as high academic achievement. Strong applicantsdemonstrate an insightful process towardtheir career development and a high level of maturity.

Applicants must have a bachelor's degree. Although a specific major is not required, most applicants have a degree in a biological science (e.g. biology, genetics, biochemistry).

The average GPA of admitted students is 3.5. In following the Graduate Schools requirements for admission, a minimum undergraduate grade-point average (GPA) of 3.00 on the equivalent of the last 60 semester hours (approximately two years of work)ora master's degree with a minimum cumulative GPA of 3.00 is required. If a student has an undergraduate GPA less than 3.0, coursework completed after graduation demonstrating a higher GPA will be considered.

An applicant must complete courses in biochemistry, statistics and advanced genetics. An appropriate biochemistry course generally requires prerequisites that include at least one semester of chemistry and organic chemistry. Advanced genetic courses are typically designed for life science majors (e.g. biology, genetics, or molecular and cell biology majors). Generally, only having one introductory genetics course intended for non-science majors is not sufficient. We encourage students to take as many relevant genetics and biology courses as possible to strengthen their application. All required courses should be taken prior to applying as it is difficult to evaluate courses in progress at the time of application.

Completion of the GRE is required. This exam is used as a marker of likelihood of academic success. There is no specific cutoff value; a brochure (pdf)created by the Association of Genetic Counseling Program Directors includes average GRE scores of applicants. The Subject GRE is not required.

As per the requirements of the Graduate School, "Every applicant whose native language is not English, or whose undergraduate instruction was not in English, must provide an English proficiency test score." Given that the profession of genetic counseling is highly dependent on excellent communication skills, applicants must have a high degree of fluency in verbal and written communication. Strong candidates have TOEFL scores approaching 110 (iBT). TOEFL scores less than 100 (iBT) will not be considered for admission.

Observation of a genetic counselor(s) is a good method to learn more about the profession. This process is to help one identify if the field of genetic counseling is a good fit with one's personal and career goals. Recognizing that this clinical experience is not always possible, interviewing genetic counselors is a reasonable option. Simulated genetic counseling sessions are available on theNational Society of Genetic Counselors website as an additional resource to supplement other exposure. Please list such experience in your resume/CV.

Given the nature of this profession, having experience in advocacy or counseling is of significant value. Such experience helps one appreciate and develop interpersonal communication skills, have a better understanding of the patient or person's experience, and to have a better understanding of the healthcare system or other public service system. Applicants typically have experiences from many different settings including: Planned Parenthood, domestic abuse shelters, crisis hotlines, peer counseling, homeless shelters, hospice care, or working with individuals with physical disabilities or intellectual impairment.

Three letters of recommendation are required that demonstrate ones academic, professional and advocacy strengths.

As noted on theNational Society of Genetic Counselors website, applicants often engage in various types of experiences outside of the typical classroom. Experiences should aid intheir decision to pursue a career in genetic counseling. Most applicants have held various types of jobs, completed research or laboratory work, or volunteered with various organizations such as Special Olympics.

Follow this link:
Admission Requirements | Genetic Counseling Program

Most of the time, genetic testing is done through healthcare providers such as physicians, nurse practitioners, and genetic counselors. Healthcare providers determine which test is needed, order the test from a laboratory, collect and send the DNA sample, interpret the test results, and share the results with the patient. Often, a health insurance company covers part or all of the cost of testing.

Direct-to-consumer genetic testing is different: these genetic tests are marketed directly to customers via television, print advertisements, or the Internet, and the tests can be bought online or in stores. Customers send the company a DNA sample and receive their results directly from a secure website or in a written report. Direct-to-consumer genetic testing provides people access to their genetic information without necessarily involving a healthcare provider or health insurance company in the process.

Dozens of companies currently offer direct-to-consumer genetic tests for a variety of purposes. The most popular tests use genetic variations to make predictions about health, provide information about common traits, and offer clues about a persons ancestry. The number of companies providing direct-to-consumer genetic testing is growing, along with the range of health conditions and traits covered by these tests. Because there is currently little regulation of direct-to-consumer genetic testing services, it is important to assess the quality of available services before pursuing any testing.

Other names for direct-to-consumer genetic testing include DTC genetic testing, direct-access genetic testing, at-home genetic testing, and home DNA testing. Ancestry testing (also called genealogy testing) is also considered a form of direct-to-consumer genetic testing.

Go here to read the rest:
What is direct-to-consumer genetic testing? - Genetics ...

"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.

Read the original here:
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.

By clicking "Submit," I agree to the MedicineNet Terms and Conditions and Privacy Policy. I also agree to receive emails from MedicineNet and I understand that I may opt out of MedicineNet subscriptions at any time.

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

See All Testimonials

See the original post:
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.

Back to top of page

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.

Back to top of page

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.

Back to top of page

34. Forthcoming and Preprints

Go here to read the rest:
Samples of Formatted References for Authors of Journal ...

" );objDoc.close();// Print the document.objFrame.focus();objFrame.print();// Have the frame remove itself in about a minute so that// we don't build up too many of these frames.setTimeout(function(){jFrame.remove();},(60 * 1000));}/* === Sharing Tools === */ //Get current URL & Page Title//var urlShare = window.location.href;var urlShare = window.location.href; var titleShare = document.title;//Set width and height of pop-upvar widthShare = 560;var heightShare = 540;// Driver functions to create the various social share pop-upsfunction fbShare(url, title, descr, image, winWidth, winHeight) {var winTop = (screen.height / 2) - (winHeight / 2);var winLeft = (screen.width / 2) - (winWidth / 2);window.open('http://www.facebook.com/sharer.php?s=100&p[title]=' + title + '&p[summary]=' + descr + '&p[url]=' + url + '&p[images][0]=' + image, 'sharer', 'top=' + winTop + ',left=' + winLeft + ',toolbar=0,status=0,width=' + winWidth + ',height=' + winHeight);}function twShare(url, title, winWidth, winHeight) {var winTop = (screen.height / 2) - (winHeight / 2);var winLeft = (screen.width / 2) - (winWidth / 2);window.open('https://twitter.com/intent/tweet?url=' + url + '&text=' + encodeURI(title), 'sharer', 'top=' + winTop + ',left=' + winLeft + ',toolbar=0,status=0,width=' + winWidth + ',height=' + winHeight);}function goShare(url, winWidth, winHeight) {var winTop = (screen.height / 2) - (winHeight / 2);var winLeft = (screen.width / 2) - (winWidth / 2);window.open('https://plus.google.com/share?url=' + url, 'sharer', 'top=' + winTop + ',left=' + winLeft + ',toolbar=0,status=0,width=' + winWidth + ',height=' + winHeight);}//Click events to initiate social share pop-upvar myPageTitle = $('h1').text().trim();if (myPageTitle === "") {var myPageTitle = $('.profile-name').text().trim();}var myFormattedTitle = myPageTitle.replace("&", "and");var emailURL = window.location.href;$('#share-btn-email').attr('href', 'mailto:?subject=' + myFormattedTitle + '&body=Article from Moffitt Cancer Center.%0A' + emailURL );$("#share-btn-fb").click(function(){fbShare(urlShare,'Fb Share','Facebook share popup','http://goo.gl/dS52U',widthShare,heightShare)});$("#share-btn-tw").click(function(){twShare(urlShare,titleShare,widthShare,heightShare)});$("#share-btn-go").click(function(){goShare(urlShare,widthShare,heightShare)});//Open/close the share menuvar isSharing = false;$("#share-outer").click(function(){if(isSharing === false) {$("#share-wrapper").css("display","block");$(".share-btn-top").css('background-color','#fcfcfc');isSharing = true;} else {$("#share-wrapper").css("display","none");isSharing = false;$(".share-btn-top").css('background-color','#e1e1e1');}});/* === Print Page === */$(".print-btn").click(function(){$(".printable img").addClass('do-not-print');$(".printable").print();return( false );});});

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.

View post:
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.

Go here to read the rest:
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

Read the original here:
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]

Read the original post:
Maternalfetal medicine - Wikipedia