Clinical applications of genetic testing: implications for the family physician.

Abstract:

:Genetic testing may be applied in a variety of clinical situations, including preconception counseling, prenatal diagnosis and postnatal determination of genetic predisposition to disease. The family physician needs to become familiar with the full range of genetic testing possibilities in all phases of the human life cycle. Cystic fibrosis, Huntington's disease and cancer are three diseases for which genetic testing has become a reality, and they serve to illustrate the clinical and ethical dilemmas that arise with this type of testing.

journal_name

Am Fam Physician

authors

Whittaker L

subject

Has Abstract

pub_date

1996-05-01 00:00:00

pages

2077-84

issue

6

eissn

0002-838X

issn

1532-0650

journal_volume

53

pub_type

杂志文章,评审
  • Prevention, recognition, and management of serotonin syndrome.

    abstract::Serotonin syndrome is a potentially life-threatening condition caused by excessive serotonergic activity in the nervous system. It is characterized by mental status changes, autonomic instability, and neuromuscular hyperactivity. Most reported cases of serotonin syndrome are in patients using multiple serotonergic dru...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Ables AZ,Nagubilli R

    更新日期:2010-05-01 00:00:00

  • Identification and treatment of benzodiazepine abuse.

    abstract::Although often used in the medical management of anxiety, insomnia, seizures and muscle spasm, benzodiazepines lead to significant complications after continuous use. These complications include tolerance, addiction, dependence and abuse. Knowledge of the diagnostic criteria and treatment of side effects improves the ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Miller NS,Gold MS

    更新日期:1989-10-01 00:00:00

  • Kawasaki disease: summary of the American Heart Association guidelines.

    abstract::Kawasaki disease is an acute vasculitis of childhood that predominantly affects the coronary arteries. The etiology of Kawasaki disease remains unknown, although an infectious agent is strongly suspected based on clinical and epidemiologic features. A genetic predisposition is also likely, based on varying incidences ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Freeman AF,Shulman ST

    更新日期:2006-10-01 00:00:00

  • Pharmacologic prevention of osteoporotic fractures.

    abstract::Osteoporosis is characterized by low bone mineral density and a deterioration in the microarchitecture of bone that increases its susceptibility to fracture. The World Health Organization defines osteoporosis as a bone mineral density that is 2.5 standard deviations or more below the reference mean for healthy, young ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Zizic TM

    更新日期:2004-10-01 00:00:00

  • Aspirated foreign bodies in children.

    abstract::Children six months to four years of age are at greatest risk for aspiration of foreign bodies. A history of coughing after contact with small objects is the most important clue. The clinical presentation varies from paroxysms of choking and coughing to chronic cough or wheezing. Chest radiographs are normal in up to ...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Sanford CC

    更新日期:1979-09-01 00:00:00

  • Amenorrhea: an approach to diagnosis and management.

    abstract::Although amenorrhea may result from a number of different conditions, a systematic evaluation including a detailed history, physical examination, and laboratory assessment of selected serum hormone levels can usually identify the underlying cause. Primary amenorrhea, which by definition is failure to reach menarche, i...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Klein DA,Poth MA

    更新日期:2013-06-01 00:00:00

  • Preventing cervical cancer: the role of the Bethesda system.

    abstract::The Papanicolaou smear is a well-established component of preventive health protocols for women. The purpose of this screening tool is to detect precursor lesions of invasive cervical carcinoma; however, the natural progression of these lesions is unclear, and it currently is not possible to determine which of the man...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Shepherd JC,Fried RA

    更新日期:1995-02-01 00:00:00

  • Surgical options in the management of groin hernias.

    abstract::Inguinal and femoral hernias are the most common conditions for which primary care physicians refer patients for surgical management. Hernias usually present as swelling accompanied by pain or a dragging sensation in the groin. Most hernias can be diagnosed based on the history and clinical examination, but ultrasonog...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Bax T,Sheppard BC,Crass RA

    更新日期:1999-01-01 00:00:00

  • Metabolic acidosis with an elevated anion gap.

    abstract::Determining the cause of metabolic acidosis with a high anion gap may present a diagnostic challenge. Possible causes include ketoacidosis, certain toxic ingestions, renal failure and lactic acidosis. Many of these entities present with nausea, vomiting and changes in mental status; however, there are specific hallmar...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Hertford JA,McKenna JP,Chamovitz BN

    更新日期:1989-04-01 00:00:00

  • Thyroiditis: a clinical review.

    abstract::Thyroiditis is a spectrum of diseases that includes acute, subacute and chronic thyroiditis, all of which demonstrate the histologic findings of inflammation, fibrosis or lymphocytic infiltration. Acute thyroiditis is an infectious disease characterized by the abrupt onset of anterior neck pain and swelling. Subacute ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Sakiyama R

    更新日期:1993-09-15 00:00:00

  • Evaluating and understanding articles about treatment.

    abstract::Each year physicians must decide which of the thousands of newly published articles they will take time to read. To determine which articles are the most clinically useful, physicians should assess their relevance, validity, and clinical importance. Using these criteria can drastically decrease the number of articles ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Shaughnessy AF

    更新日期:2009-04-15 00:00:00

  • Suggestion therapy and clinical hypnosis.

    abstract::The family physician is in a unique position to care for the total needs of the patient. Suggestion therapy and clinical hypnosis are helpful in managing the psychologic aspects of disease in all age groups beyond five years, and are well within the purview of family physicians. Learning these techniques can enhance t...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Phelps LA

    更新日期:1981-06-01 00:00:00

  • Carotid endarterectomy for stroke prevention.

    abstract::Minor neurologic signs or transient ischemic attacks (TIAs) precede stroke in 50 percent of patients. In men, antiplatelet therapy decreases the risk of recurrent TIA and stroke. Carotid endarterectomy for TIA is now one of the most commonly performed vascular operations. Preoperatively, the arterial anatomy of the pa...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Quest DO

    更新日期:1987-05-01 00:00:00

  • Upper extremity bursitis.

    abstract::Upper extremity bursae are injured through a number of processes, including overuse, hemorrhage, crystal deposition, autoimmune diseases and infection. These injuries may be disabling and can pose significant diagnostic and therapeutic challenges for the clinician. Treatment of the most common forms is directed at pai...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Salzman KL,Lillegard WA,Butcher JD

    更新日期:1997-11-01 00:00:00

  • Treatment of Alzheimer disease.

    abstract::Alzheimer disease is the most common form of dementia, affecting nearly one-half [corrected] of Americans older than 85 years. It is characterized by progressive memory loss and cognitive decline. Amyloid plaque accumulation, neurofibrillary tau tangles, and depletion of acetylcholine are among the pathologic manifest...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Winslow BT,Onysko MK,Stob CM,Hazlewood KA

    更新日期:2011-06-15 00:00:00

  • Multiple chemical sensitivity syndrome.

    abstract::Multiple chemical sensitivity (MCS) is a syndrome in which multiple symptoms reportedly occur with low-level chemical exposure. Several theories have been advanced to explain the cause of MCS, including allergy, toxic effects and neurobiologic sensitization. There is insufficient scientific evidence to confirm a relat...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Magill MK,Suruda A

    更新日期:1998-09-01 00:00:00

  • Diagnosis and management of multiple sclerosis.

    abstract::Multiple sclerosis, an idiopathic inflammatory disease of the central nervous system, is characterized pathologically by demyelination and subsequent axonal degeneration. The disease commonly presents in young adults and affects twice as many women as men. Common presenting symptoms include numbness, weakness, visual ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Calabresi PA

    更新日期:2004-11-15 00:00:00

  • Using progestins in clinical practice.

    abstract::Progestational agents have many important functions, including regulation of the menstrual cycle, treatment of dysfunctional uterine bleeding, prevention of endometrial cancer and hyperplastic precursor lesions, and contraception. Because of the reported side effects of synthetic analogs called "progestins," there has...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Apgar BS,Greenberg G

    更新日期:2000-10-15 00:00:00

  • Developmental Delay: When and How to Screen.

    abstract::An estimated 15% of children in the United States have at least one developmental delay, yet less than one-fifth of those children receive early intervention services before three years of age. Many barriers exist to implementing initial screening and referral, but screening tools can be easily incorporated into the w...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Vitrikas K,Savard D,Bucaj M

    更新日期:2017-07-01 00:00:00

  • Menière's disease: differential diagnosis and treatment.

    abstract::Menière's disease may be the underlying cause of dizziness, which is a common presenting complaint. This disease is differentiated from other causes of dizziness by its classic constellation of four symptoms; dizziness characterized as episodic spinning or whirling vertigo; fluctuating, low-frequency sensorineural hea...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Knox GW,McPherson A

    更新日期:1997-03-01 00:00:00

  • Caring for Transgender and Gender-Diverse Persons: What Clinicians Should Know.

    abstract::Persons whose experienced or expressed gender differs from their sex assigned at birth may identify as transgender. Transgender and gender-diverse persons may have gender dysphoria (i.e., distress related to this incongruence) and often face substantial health care disparities and barriers to care. Gender identity is ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Klein DA,Paradise SL,Goodwin ET

    更新日期:2018-12-01 00:00:00

  • Clues to cancer risk: biologic markers.

    abstract::Two large kindreds manifesting the "cancer family syndrome" have been studied. Genetic and biologic studies reveal markers which have important implications for cancer detection, control and prevention. Valuable markers may be found in the major histocompatibility system, HL-A. The presence of carcinoembryonic antigen...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Lynch HT,Thomas RJ,Gurgis HA,Lynch J

    更新日期:1975-03-01 00:00:00

  • Atypical moles.

    abstract::Atypical moles can be distinguished visually by clinical features of size greater than 6 mm in diameter, color variegation, indistinct borders, and textured surface. All patients who have atypical moles should be counselled about sun avoidance, screening of family members, and regular skin checks at least once per yea...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Cyr PR

    更新日期:2008-09-15 00:00:00

  • The infertile couple.

    abstract::Infertility is generally defined as the inability to conceive after one year of unprotected, adequately timed intercourse. Causes of infertility include ovulatory dysfunction, tubal factors, peritoneal factors and uterine factors, as well as male factors that are the sole or contributing causes of infertility in up to...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Trantham P

    更新日期:1996-09-01 00:00:00

  • Primary dysmenorrhea: current concepts.

    abstract::Primary dysmenorrhea is menstrual pain that is not associated with pelvis pathology. It usually begins with the onset of ovulatory cycles, characteristically appearing in the year after menarche and increasing with time. The pain is associated with increased myometrial activity. Oral contraceptives and prostaglandin s...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Jay MS,Taylor W

    更新日期:1981-11-01 00:00:00

  • Synovial osteochondromatosis.

    abstract::Synovial osteochondromatosis is a benign disorder in which cartilaginous loose bodies develop about the large joints, usually the knee. It is caused by synovial metaplasia of unknown etiology. Symptoms are due either to mechanical problems caused by the loose bodies or to the degenerative arthritis that usually follow...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Alexander JE,Holder JC,McConnell JR,Fontenot E Jr

    更新日期:1987-02-01 00:00:00

  • Local treatment of rectal cancer.

    abstract::While abdominoperineal resection with permanent colostomy is still required for most distal [corrected] rectal cancers, sphincter-saving local treatment by means of local excision, electrocoagulation or endocavitary contact radiation can be used for some highly selected distal tumors. Local treatment avoids a permanen...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Pidala MJ,Oliver GC

    更新日期:1997-10-15 00:00:00

  • Essentials of the diagnosis of heart failure.

    abstract::Although heart failure is a common clinical syndrome, especially in the elderly, its diagnosis is often missed. A detailed clinical history is crucial and should address not only current signs and symptoms of heart failure but also signs and symptoms that point to a specific cause of the syndrome, such as coronary art...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Shamsham F,Mitchell J

    更新日期:2000-03-01 00:00:00

  • Effects of alcohol on bone, muscle and nerve.

    abstract::The acute and chronic effects of alcohol on bone, muscle and peripheral nerves are not well appreciated. Bone complications include traumatic fractures, osteoporosis and osteonecrosis. In muscle, a sustained bout of heavy drinking may cause rhabdomyolysis, while chronic alcohol abuse may produce proximal myopathy. In ...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Hodges DL,Kumar VN,Redford JB

    更新日期:1986-11-01 00:00:00

  • Acute abdominal pain in children.

    abstract::Acute abdominal pain in children presents a diagnostic dilemma. Although many cases of acute abdominal pain are benign, some require rapid diagnosis and treatment to minimize morbidity. Numerous disorders can cause abdominal pain. The most common medical cause is gastroenteritis, and the most common surgical cause is ...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Leung AK,Sigalet DL

    更新日期:2003-06-01 00:00:00