Prenatal genetic diagnosis.

Abstract:

:More than 100,000 children are born in the U.S. each year with major congenital defects or genetic disorders, with or without mental retardation. Advances in prenatal diagnosis have now made it possible to detect an increasing number of these disorders in utero. Carrier detection is advised prior to pregnancy, rather than after the birth of a defective child, or during pregnancy itself. Patients have a right to know about their genetic risks and should have the freedom to exercise their options.

journal_name

Am Fam Physician

authors

Sandstrom MM,Milunsky A

subject

Has Abstract

pub_date

1977-01-01 00:00:00

pages

121-8

issue

1

eissn

0002-838X

issn

1532-0650

journal_volume

15

pub_type

杂志文章
  • Peripheral edema.

    abstract::Distribution of accumulated fluid is the important element in the differentiation of peripheral edema resulting from different etiologies. Isolated upper extremity edema is rare and is usually caused by obstruction of the superior vena cava by a malignancy. The cause of unilateral edema of a lower limb can usually be ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Powell AA,Armstrong MA

    更新日期:1997-04-01 00:00:00

  • Factitious injury of an extremity: a Munchausen variant.

    abstract::Self-induced injury of one or more of the extremities may represent a distinct variety of Munchausen syndrome. The nature of the injury may be infectious, dermatologic or orthopedic. The mechanism may be secondary gain or another unconscious motivation that causes a craving for attention. In many cases, the underlying...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Yinnon AM,Zandman-Goddard G,Moreb J,Fisch RZ,Abraham AS

    更新日期:1988-06-01 00:00:00

  • Radionuclide imaging in the evaluation of heart disease.

    abstract::Myocardial perfusion imaging with stress testing by exercise or pharmacologic methods and functional evaluation of the left ventricle are useful in many patients. Uses include determination of diagnosis and prognosis of patients with coronary artery disease, preoperative evaluation, management and risk stratification ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Butler RR Jr,Wilf LH

    更新日期:1997-01-01 00:00:00

  • Management of irritable bowel syndrome.

    abstract::Irritable bowel syndrome is the most common functional disorder of the gastrointestinal tract and is frequently treated by family physicians. Despite patients' worries about the symptoms of irritable bowel syndrome, it is a benign condition. The diagnosis should be made using standard criteria after red flags that may...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Viera AJ,Hoag S,Shaughnessy J

    更新日期:2002-11-15 00:00:00

  • Anaerobic infections in childhood.

    abstract::Bacteroides melaninogenicus and Bacteroides oralis are predominant anaerobes in orofacial infections and aspiration pneumonia. Fusobacterium species are common pathogens in aspiration pneumonia, brain abscesses and orofacial infections. Clostridium perfringens can cause bacteremia and wound infections. Clostridium bot...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Brook I

    更新日期:1986-10-01 00:00:00

  • Eating Disorders in Primary Care: Diagnosis and Management.

    abstract::Eating disorders are potentially life-threatening conditions characterized by disordered eating and weight-control behaviors that impair physical health and psychosocial functioning. Early intervention may decrease the risk of long-term pathology and disability. Clinicians should interpret disordered eating and body i...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Klein DA,Sylvester JE,Schvey NA

    更新日期:2021-01-01 00:00:00

  • 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...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Whittaker L

    更新日期:1996-05-01 00:00:00

  • Perimenopausal bleeding.

    abstract::The principal means of evaluating perimenopausal bleeding is endometrial biopsy performed in the office. With the rising incidence of endometrial cancer, an accurate diagnosis is imperative. Outpatient endometrial biopsy is well accepted by patients, provides ample tissue for histologic examination and has good diagno...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Masterson BJ

    更新日期:1986-02-01 00:00:00

  • Treatment strategies for Helicobacter pylori infection.

    abstract::Peptic ulcer disease is strongly associated with infection by Helicobacter pylori, a spiral-shaped, flagellated organism found predominantly in the gastric antrum. More than 90 percent of duodenal ulcers and adenocarcinomas of the distal stomach are associated with H. pylori infection. Eradication of the organism effe...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Damianos AJ,McGarrity TJ

    更新日期:1997-06-01 00:00:00

  • Palmoplantar hyperhidrosis: a therapeutic challenge.

    abstract::Excessive sweating from the palms and soles, known as palmoplantar hyperhidrosis, affects both children and adults. Diagnosis of this potentially embarrassing and socially disabling condition is based on the patient's history and visible signs of sweating. The condition usually is idiopathic. Treatment remains a chall...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Thomas I,Brown J,Vafaie J,Schwartz RA

    更新日期:2004-03-01 00:00:00

  • Urinary incontinence in women: evaluation and management.

    abstract::Because the prevalence of urinary incontinence increases with age, a working knowledge of the diagnosis and treatment of the various types of urinary incontinence is fundamental to the care of women. As the population of the United States ages, primary care physicians can expect to see an increasing number of patients...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Culligan PJ,Heit M

    更新日期:2000-12-01 00:00:00

  • Anaphylaxis: Recognition and Management.

    abstract::Anaphylaxis is a life-threatening systemic reaction, normally occurring within one to two hours of exposure to an allergen. The incidence of anaphylaxis in the United States is 2.1 per 1,000 person-years. Most anaphylactic reactions occur outside the hospital setting. Urticaria, difficulty breathing, and mucosal swell...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Pflipsen MC,Vega Colon KM

    更新日期:2020-09-15 00:00:00

  • Complications of vasectomy.

    abstract::Family physicians should be aware of the potential effects and complications of vasectomy so they can appropriately counsel patients seeking sterilization. Vasectomy produces anatomic, hormonal and immunologic changes and, although not substantiated by clinical studies, has been reputed to be associated with atheroscl...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Raspa RF

    更新日期:1993-11-15 00:00:00

  • De Quervain's disease.

    abstract::This is a tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons contained within the osseofibrous tunnel of the distal radius. Multiple tendons for the abductor pollicis longus and a separate, severely narrowed sheath for the extensor pollicis brevis make nonsurgical treatment difficult at...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Field JH

    更新日期:1979-07-01 00:00:00

  • Phenobarbital vs. phenytoin for grand mal epilepsy.

    abstract::The chief side effect of phenobarbital is drowsiness, which is usually associated with overdosage. Phenytoin, on the other hand, causes gingival hyperplasia in many patients, irreversible hypertrichosis in some patients and lethal reactions, such as Stevens-Johnson syndrome, in a few patients. Antiepileptic therapy sh...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Livingston S,Pauli LL,Pruce I,Kramer II

    更新日期:1980-08-01 00:00:00

  • Diagnosis and Management of Adnexal Masses.

    abstract::Adnexal masses can have gynecologic or nongynecologic etiologies, ranging from normal luteal cysts to ovarian cancer to bowel abscesses. Women who report abdominal or pelvic pain, increased abdominal size or bloating, difficulty eating, or rapid satiety that occurs more than 12 times per month in less than a year shou...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Biggs WS,Marks ST

    更新日期:2016-04-15 00:00:00

  • Carvedilol: the new role of beta blockers in congestive heart failure.

    abstract::The prognosis remains poor for patients with congestive heart failure (CHF), despite reduced mortality rates resulting from the addition of angiotensin converting enzyme inhibitors to traditional treatment regimens. Because much of the myocardial damage that occurs in patients with CHF may be related to sympathetic ac...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Vanderhoff BT,Ruppel HM,Amsterdam PB

    更新日期:1998-11-01 00:00:00

  • Slipped capital femoral epiphysis: diagnosis and management.

    abstract::Slipped capital femoral epiphysis is the most common hip disorder in adolescents, and it has a prevalence of 10.8 cases per 100,000 children. It usually occurs in children eight to 15 years of age, and it is one of the most commonly missed diagnoses in children. Slipped capital femoral epiphysis is classified as stabl...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Peck D

    更新日期:2010-08-01 00:00:00

  • Cardiac pacemakers: current concepts.

    abstract::Cardiac pacemakers are generally used in conditions where bradyarrhythmia is a major problem, such as advanced heart block, sick sinus syndrome and bundle branch block. Temporary or permanent pacing may be needed to control certain tachyarrhythmias refractory to medical therapy. Temporary pacing may be of value in the...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Haider R,Meyer JF,Rasul AM

    更新日期:1984-05-01 00:00:00

  • Preconception health care.

    abstract::Appropriate preconception health care improves pregnancy outcomes. When started at least one month before conception, folic acid supplements can prevent neural tube defects. Targeted genetic screening and counseling should be offered on the basis of age, ethnic background, or family history. Before conception, women s...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Brundage SC

    更新日期:2002-06-15 00:00:00

  • Amenorrhea: A Systematic Approach to Diagnosis and Management.

    abstract::Menstrual patterns can be an indicator of overall health and self-perception of well-being. Primary amenorrhea, defined as the lifelong absence of menses, requires evaluation if menarche has not occurred by 15 years of age or three years post-thelarche. Secondary amenorrhea is characterized by cessation of previously ...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Klein DA,Paradise SL,Reeder RM

    更新日期:2019-07-01 00:00:00

  • Ginger: an overview.

    abstract::Ginger (Zingiber officinale) is one of the more commonly used herbal supplements. Although often consumed for culinary purposes, it is taken by many patients to treat a variety of conditions. Ginger has been shown to be effective for pregnancy-induced and postoperative nausea and vomiting. There is less evidence to su...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: White B

    更新日期:2007-06-01 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

  • Post-traumatic stress disorder in Vietnam veterans.

    abstract::Post-traumatic stress disorder evolved from the concepts of shell shock and traumatic war neurosis. In Vietnam veterans, the disorder is associated with unemployment, marital discord, alcoholism and increased autonomic system response to perceived symbols of war trauma. A combination of psychotherapy and pharmacothera...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Pary R,Lippmann SB,Turns DM,Tobias CR

    更新日期:1988-02-01 00:00:00

  • Perils and pitfalls of open tibial fractures.

    abstract::The status of the fibula is an index of the severity of injury. Open tibial fracture with associated fractured fibula is more likely to develop complications. Antibiotics should be started promptly. Judicious debridement is essential but bone fragments should be left whenever possible. When there is any question about...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Connolly JF

    更新日期:1975-01-01 00:00:00

  • Therapeutic endoscopy for gastrointestinal bleeding.

    abstract::Patients with variceal or other gastrointestinal hemorrhage require aggressive resuscitative measures and early diagnosis for optimal therapy. A number of nonsurgical endoscopic modalities, such as laser therapy, sclerotherapy, heater probe and electrocoagulation (monopolar or bipolar), are available to arrest and som...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Thatcher BS

    更新日期:1986-10-01 00:00:00

  • Rapid heparin anticoagulation: use of a weight-based nomogram.

    abstract::The rapidity with which heparin anticoagulation is achieved is essential to a positive clinical outcome in patients with deep venous thrombosis or pulmonary embolus. However, adequate anticoagulation is frequently not achieved, either as a result of dosing regimens that do not take heparin kinetics into account or bec...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Schaefer DC,Hufnagle J,Williams L

    更新日期:1996-12-01 00:00:00

  • Recognition and management of Tourette's syndrome and tic disorders.

    abstract::Tic disorders and Tourette's syndrome are conditions that primary care physicians are likely to encounter. Up to 20 percent of children have at least a transient tic disorder at some point. Once believed to be rare, Tourette's syndrome is now known to be a more common disorder that represents the most complex and seve...

    journal_title:American family physician

    pub_type: 杂志文章,评审

    doi:

    authors: Bagheri MM,Kerbeshian J,Burd L

    更新日期:1999-04-15 00:00:00

  • Nail and hyperkeratotic problems in the elderly foot.

    abstract::Subungual hemorrhage, onychauxis, onychogryphosis, mycotic infections, onychia and paronychia are common toenail disorders in the elderly. The many contributing factors include impaired vision, changes in gait, past foot conditions and neurovascular disease. Hyperkeratotic disorders are secondary to external or intern...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Helfand AE

    更新日期:1989-02-01 00:00:00

  • FPIN's Clinical Inquiries. Aspirin use in children for fever or viral syndromes.

    abstract::Aspirin should not be used to treat acute febrile viral illness in children. (Strength of Recommendation [SOR]: C, based on case-control studies). Although no causal link has been proven, data from case-control and historic cohort studies demonstrate an association between aspirin use and Reye syndrome. The risk of Re...

    journal_title:American family physician

    pub_type: 杂志文章

    doi:

    authors: Beutler AI,Chesnut GT,Mattingly JC,Jamieson B

    更新日期:2009-12-15 00:00:00