Abstract:
: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 reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients.
journal_name
Am Fam Physicianjournal_title
American family physicianauthors
Raghuveer TS,Garg U,Graf WDsubject
Has Abstractpub_date
2006-06-01 00:00:00pages
1981-90issue
11eissn
0002-838Xissn
1532-0650journal_volume
73pub_type
杂志文章,评审abstract::Middle ear fluid is a common problem in children. Eustachian tube dysfunction has been considered the key to the pathogenesis of this disorder, but new studies show that other factors may be operative. Inflammation appears to play a significant role in high-viscosity effusion, and these effusions may be related to acu...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1978-04-01 00:00:00
abstract::Home monitoring of blood glucose and blood pressure levels can provide patients and physicians with valuable information in the management of diabetes mellitus and hypertension. Home monitoring allows patients to play an active role in their care and may improve treatment adherence and clinical outcomes. Glucose meter...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:2007-07-15 00:00:00
abstract::Adverse effects of hormonal contraceptives usually diminish with continued use of the same method. Often, physi- cians only need to reassure patients that these symptoms will likely resolve within three to five months. Long-acting injectable depot medroxyprogesterone acetate is the only hormonal contraceptive that is ...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:2010-12-15 00:00:00
abstract::Physicians can create their own personal formulary by rigorously selecting and regularly using one or two drugs for each clinical condition they commonly encounter. The primary and secondary medical literature provides the necessary information to create this formulary. Primary literature sources include peer-reviewed...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:1996-06-01 00:00:00
abstract::Systemic causes of leg edema include idiopathic cyclic edema, heart failure, cirrhosis, nephrosis and other hypoproteinemic states. Lymphedema may be primary, or secondary to neoplasm, lymphangitis, retroperitoneal fibrosis and, rarely (in the U.S.), filariasis. Thrombophlebitis and chronic venous insufficiency are no...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::Some skin conditions, such as blistering diseases, guttate and pustular psoriasis, exfoliative erythroderma, reactive erythemas and acute contact dermatitis have an acute onset and require prompt intervention. Acute vesicular or weeping dermatoses are best treated with cool, wet compresses and topical lotions, whereas...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1986-11-01 00:00:00
abstract::Management of a wide variety of musculoskeletal conditions requires the use of a cast or splint. Splints are noncircumferential immobilizers that accommodate swelling. This quality makes splints ideal for the management of a variety of acute musculoskeletal conditions in which swelling is anticipated, such as acute fr...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:2009-09-01 00:00:00
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:
更新日期:2011-06-15 00:00:00
abstract::Adverse publicity about nursing homes increases the anguish of many people as they face the decision of placing a loved one in a nursing home. It is true that there are shortcomings in some nursing homes: poorly trained staff, unesthetic environment, little privacy, few activities and loss of identity. Nevertheless, i...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1987-04-01 00:00:00
abstract::Group B streptococci and Escherichia coli are the most frequently isolated etiologic agents in neonatal septicemia. Neonatal infection that is caused by Pseudomonas aeruginosa is usually late in onset, nosocomial in origin and epidemic in pattern. However, P. aeruginosa must be considered in all neonatal infections, r...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1986-03-01 00:00:00
abstract::The classic modes of heat loss affecting the newborn are conduction, convection, radiation and evaporation. The disproportionate ratio of surface area to body weight (SA/BW) of the premature infant is the basis of inefficient heat conservation, combined with a blunted metabolic response. Hypothermia leads to hypoxemia...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1977-11-01 00:00:00
abstract::Delirium is characterized by a sudden deterioration in cognitive function and an inability to sustain attention. It is a medical emergency that occurs in more than 20 percent of hospitalized elderly patients. Misdiagnosis is common and contributes to high morbidity and mortality. Patients may present in hypoactive, hy...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:1994-11-01 00:00:00
abstract::Use of performance-enhancing supplements occurs at all levels of sports, from professional athletes to junior high school students. Although some supplements do enhance athletic performance, many have no proven benefits and have serious adverse effects. Anabolic steroids and ephedrine have life-threatening adverse eff...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:2008-11-01 00:00:00
abstract::The U.S. Preventive Services Task Force recommends that clinicians screen adults for alcohol misuse and provide persons engaged in risky or hazardous drinking behaviors with brief behavioral counseling to reduce alcohol misuse. However, only a minority of American adults with high-risk alcohol use receive treatment. T...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:2016-03-15 00:00:00
abstract::Gastroesophageal reflux is defined as the passage of stomach contents into the esophagus with or without accompanied regurgitation (spitting up) and vomiting. It is a normal physiologic process that occurs throughout the day in infants and less often in children and adolescents. Gastroesophageal reflux disease (GERD) ...
journal_title:American family physician
pub_type: 杂志文章,病人教育讲义
doi:
更新日期:2015-10-15 00:00:00
abstract::Colonic angiodysplasia is now recognized as a frequent cause of gastrointestinal bleeding in patients over age 55. These microvascular arteriovenous malformations may be as common a cause of colonic bleeding as diverticular disease. The lesions are not evident on barium studies. Even colonoscopy and selective colonic ...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1985-09-01 00:00:00
abstract::Common superficial oral lesions include candidiasis, recurrent herpes labialis, recurrent aphthous stomatitis, erythema migrans, hairy tongue, and lichen planus. Recognition and diagnosis require taking a thorough history and performing a complete oral examination. Knowledge of clinical characteristics such as size, l...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:2007-02-15 00:00:00
abstract::Most side effects of oral contraceptives can be attributed to an excess or a deficiency of estrogen or progestin. Knowledge of the relative amounts of estrogen and progestin in the available preparations permits a rational adjustment of dosage if side effects occur. With this information, nearly every woman who wants ...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1978-01-01 00:00:00
abstract::Joint and soft tissue injection of the ankle and foot region is a useful diagnostic and therapeutic tool for the family physician. This article reviews the injection procedure for the plantar fascia, ankle joint, tarsal tunnel, interdigital space, and first metatarsophalangeal joint. Indications for plantar fascia inj...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:2003-10-01 00:00:00
abstract::Endometrial biopsy is a safe and efficient method to evaluate the endometrium for a variety of indications, most commonly abnormal uterine bleeding and postmenopausal bleeding. Endometrial biopsy is highly specific for diagnosing atypical hyperplasia and endometrial cancer in postmenopausal women. Pregnancy is the onl...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:2020-05-01 00:00:00
abstract::Gait disorders in the elderly are common and in most cases cannot be treated medically or surgically. Therefore, treatment often relies on ambulatory devices such as canes, crutches, and walkers. Before selecting a device, the patient should be evaluated to define whether one or both upper extremities are required to ...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:2003-04-15 00:00:00
abstract::Benign pulmonary neoplasms are relatively uncommon. The symptoms vary, depending on the location of the tumor. Specific diagnosis can be a time-consuming process and requires an orderly plan. Polytomography or computed tomographic scan, bronchoscopy, percutaneous biopsy or thoracotomy may be required. Tissue diagnosis...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1984-01-01 00:00:00
abstract::Problems resulting from cold exposure can be successfully treated when a coordinated emergency medical transport system and appropriate equipment are available, as well as medical personnel knowledgeable in the management of frostbite and hypothermia. Clinical suspicion of these disorders is essential. Profoundly hypo...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
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:
更新日期:1996-05-01 00:00:00
abstract::Primary carcinoma of the fallopian tube is a rare disease and has traditionally been managed in the same manner as epithelial ovarian cancer. However, unlike ovarian cancer, fallopian tube cancer is not routinely suspected and treatment may be delayed. The clinical presentations of seven cases of fallopian tube cancer...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1988-11-01 00:00:00
abstract::Running is a common form of exercise but predisposes athletes to several running-related injuries. Most running injuries are due to overuse and respond to conservative treatment. Tendinopathies in the patellar, Achilles, and hamstring tendons are common, and are primarily treated with eccentric exercise. Iliotibial ba...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:2018-04-15 00:00:00
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:
更新日期:2021-01-01 00:00:00
abstract::Smell and taste disorders can be challenging to diagnose because of the large number of potential etiologies. Patients are often unable to provide a clear history of symptoms, because they frequently cannot distinguish between difficulties with smell and taste. Standardized questionnaires may be helpful in diagnosis. ...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:2013-12-15 00:00:00
abstract::Particularly in rural settings, Trichophyton verrucosum commonly causes an inflammatory tinea infection, sometimes called 'barn itch." There is usually a history of contact with animals. The demonstration of clusters of large spores in a potassium hydroxide preparation of scrappings obtained from clinically involved s...
journal_title:American family physician
pub_type: 杂志文章
doi:
更新日期:1983-01-01 00:00:00
abstract::The protein-sparing modified fast is a safe and effective method for losing a large amount of weight relatively quickly. This diet should be used in combination with an exercise program, behavior modification and patient education. Caloric intake is in the range of 400 to 800 per day. Candidates for the diet should be...
journal_title:American family physician
pub_type: 杂志文章,评审
doi:
更新日期:1990-11-01 00:00:00