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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

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

Hereditary Hemochromatosis - American Family Physician

Feb 1, 2013 - Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body’s regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene ...

American Family Physician : Article

https://www.aafp.org/afp/2013/0201/p183.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

The Effect of Cytochrome P450 Metabolism on Drug Response, Interactions, and Adverse ...

Aug 1, 2007 - Cytochrome P450 enzymes are essential for the metabolism of many medications. Although this class has more than 50 enzymes, six of them metabolize 90 percent of drugs, with the two most significant enzymes being CYP3A4 and CYP2D6. Genetic variability (polymorphism) in these enzymes may ...

American Family Physician : Article

https://www.aafp.org/afp/2007/0801/p391.html

Role of the Family Physician in the Care of Children with Down Syndrome - American ...

Dec 15, 2014 - Down syndrome is the most common chromosomal abnormality, occurring in one in 691 live births in the United States each year. Prenatally, the sequential contingent test for aneuploidy screening is highly sensitive for Down syndrome and has a low false-positive rate. The diagnosis should...

American Family Physician : Article

https://www.aafp.org/afp/2014/1215/p851.html

When to Suspect a Genetic Syndrome - American Family Physician

Nov 1, 2012 - Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. General themes that can alert family ...

American Family Physician : Article

https://www.aafp.org/afp/2012/1101/p826.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

Turner Syndrome: Diagnosis and Management - American Family Physician

Aug 1, 2007 - Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, ...

American Family Physician : Article

https://www.aafp.org/afp/2007/0801/p405.html

Genetic Factors In Drug Metabolism - American Family Physician

Jun 1, 2008 - Patients vary widely in their response to drugs. Having an understanding of the pharmacokinetic and pharmacodynamic properties of various medications is importantwhen assessing ethnic differences in drug response. Genetic factors can account for 20 to 95 percent of patient variability. ...

American Family Physician : Article

https://www.aafp.org/afp/2008/0601/p1553.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

Diagnosis and Managment of Fragile X Syndrome - American Family Physician

Jul 1, 2005 - To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be 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 ...

American Family Physician : Article

https://www.aafp.org/afp/2005/0701/p111.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

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

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

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

Family History: The Three-Generation Pedigree - American Family Physician

Aug 1, 2005 - The collection of a family history ranges from simply asking patients if family members have the same presenting illness to diagramming complex medical and psychosocial relationships as part of a family genogram. The three-generation pedigree provides a pictorial representation of ...

American Family Physician : Article

https://www.aafp.org/afp/2005/0801/p441.html

Prader-Willi Syndrome - American Family Physician

Sep 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/2005/0901/p827.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

Issues in Newborn Screening for Phenylketonuria - American Family Physician

Oct 1, 1999 - The blood sample for phenylketonuria (PKU) screening should be obtained at least 12 hours after the infant's birth. Newborn screening for PKU has largely eliminated mental retardation caused by this disease. If the first phenylalanine test demonstrates positive results, a repeat test ...

American Family Physician : Article

https://www.aafp.org/afp/1999/1001/p1462.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

Cytochrome P450: New Nomenclature and Clinical Implications - American Family Physician

Jan 1, 1998 - Many drug interactions are a result of inhibition or induction of cytochrome P450 enzymes (CYP450). The CYP3A subfamily is involved in many clinically significant drug interactions, including those involving nonsedating antihistamines and cisapride, that may result in cardiac ...

American Family Physician : Article

https://www.aafp.org/afp/1998/0101/p107.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

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