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Medicine by the numbers

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Noonan Syndrome - American Family Physician

Jan 1, 2014 - Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high...

American Family Physician : Article

https://www.aafp.org/afp/2014/0101/p37.html

Expanded Newborn Screening: Information and Resources for the Family Physician - ...

Jun 1, 2017 - Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own ...

American Family Physician : Article

https://www.aafp.org/afp/2017/0601/p703.html

Pharmacogenetics: Using Genetic Information to Guide Drug Therapy - American Family ...

Oct 1, 2015 - Clinical pharmacogenetics, the use of genetic data to guide drug therapy decisions, is beginning to be used for medications commonly prescribed by family physicians. However, clinicians are largely unfamiliar with principles supporting clinical use of this type of data. For example, ...

American Family Physician : Article

https://www.aafp.org/afp/2015/1001/p588.html

Inborn Errors of Metabolism: From Preconception to Adulthood - American Family Physician

Jan 1, 2019 - Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500 births. The first opportunity to detect IEM occurs during preconception counseling, when pregnant women and couples considering future pregnancies can undergo carrier screening. For individuals ...

American Family Physician : Article

https://www.aafp.org/afp/2019/0101/p25.html

Diagnosis and Management of G6PD Deficiency - American Family Physician

Oct 1, 2005 - Glucose-6-phosphate dehydrogenase deficiency, the most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia, acute hemolysis, and chronic hemolysis. Persons with this condition also may be asymptomatic. This X-linked inherited disorder ...

American Family Physician : Article

https://www.aafp.org/afp/2005/1001/p1277.html

Fetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis - American Family ...

Jan 15, 2009 - Pregnant women of all ages should be offered screening and invasive diagnostic testing for chromosomal abnormalities before 20 weeks' gestation. New developments in screening methods have increased the number of options for patients. Diagnostic options include chorionic villus sampling ...

American Family Physician : Article

https://www.aafp.org/afp/2009/0115/p117.html

Inborn Errors of Metabolism in Infancy and Early Childhood: An Update - American Family...

Jun 1, 2006 - Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0601/p1981.html

Pharmacogenentics: Using DNA to Optimize Drug Therapy - American Family Physician

Oct 15, 2007 - Pharmacogenetics is a growing field of research that focuses on the interaction between genetics and drug therapy. Relationships between genetic variation and drug effect have been observed for a growing number of commonly used drugs. Validation studies may soon define the use of these ...

American Family Physician : Article

https://www.aafp.org/afp/2007/1015/p1179.html

Cerebral Palsy: An Overview - American Family Physician

Jan 1, 2006 - The presentation of cerebral palsy can be global mental and physical dysfunction or isolated disturbances in gait, cognition, growth, or sensation. It is the most common childhood physical disability and affects 2 to 2.5 children per 1,000 born in the United States. The differential ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0101/p91.html

Opportunities to Improve Outcomes in Sickle Cell Disease - American Family Physician

Jul 15, 2006 - Sickle cell disease represents a spectrum of inherited hemoglobin disorders. The pathophysiology involves abnormalities not just in red blood cells but also vascular endothelium, white blood cell function, coagulation, and inflammatory response. Known sequelae of sickle cell disease ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0715/p303.html

Cerebrospinal Fluid Biomarkers for Detection of Alzheimer Disease in Patients with Mild...

Jun 1, 2018 - There is insufficient evidence to support the routine use of cerebrospinal fluid (CSF) biomarkers for the detection of progressive dementias in patients with mild cognitive impairment (MCI). These tests carry the risk of overdiagnosis of dementia and, therefore, overtreatment.

American Family Physician : Cochrane for Clinicians

https://www.aafp.org/afp/2018/0601/p714.html

Klinefelter Syndrome - American Family Physician

Dec 1, 2005 - To complement the 2005 Annual Clinical Focus on medical genomics, AFP is publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and ...

American Family Physician : Article

https://www.aafp.org/afp/2005/1201/p2259.html

Recognition and Management of Hereditary Hemochromatosis - American Family Physician

Mar 1, 2002 - Hereditary hemochromatosis is the most common inherited single-gene disorder in people of northern European descent. It is characterized by increased intestinal absorption of iron, with deposition of the iron in multiple organs. Previously, the classic description was combined diabetes ...

American Family Physician : Article

https://www.aafp.org/afp/2002/0301/p853.html

Primary Care of Infants and Young Children with Down Syndrome - American Family Physician

Jan 15, 1999 - Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. Routine health maintenance is...

American Family Physician : Article

https://www.aafp.org/afp/1999/0115/p381.html

Screening for Genetic Risk of Breast Cancer - American Family Physician

Jan 1, 1999 - Approximately 10 to 15 percent of all breast cancers are thought to be familial and about one third of these cases are due to an inherited mutation in a BRCA1 or BRCA2 breast cancer-susceptibility gene. The lifetime incidence of breast cancer in mutation carriers is above 50 percent, ...

American Family Physician : Article

https://www.aafp.org/afp/1999/0101/p99.html

Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer ...

Mar 1, 2006 - This statement summarizes the U.S. Preventive Services Task Force (USPSTF) recommendations on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility and the supporting scientific evidence.

American Family Physician : U.S. Preventive Services Task Force

https://www.aafp.org/afp/2006/0301/p869.html

Genomics and the Family Physician: Realizing the Potential - Editorials - American ...

Nov 1, 2004 - ...implications for the design of future health care delivery systems. Many consider the imminent introduction of genomics into clinical medicine to be the most significant advance in health care since antibiotics were introduced. Being able to build on the strengths of the...

American Family Physician : Editorials

https://www.aafp.org/afp/2004/1101/p1637.html

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