摘要:

&NA;Complete deficiency of one of the early components (C1, C4, or C2) of the classical pathway of the complement cascade is one of the strongest genetic risk factors for systemic lupus erythematosus that has been recognized. The lupus that occurs in complement‐deficient individuals typically presents in early childhood. The association of complement deficiency and lupus has been known for over two decades, yet the explanation remains somewhat elusive. Complement component deficiencies may be associated with other rheumatic or autoimmune disorders and both partial and acquired complement component deficiencies are also associated with an increased risk of autoimmune disease. This article reviews the current understanding of the relationship between complement component deficiencies and autoimmunity. Recent data from animal models and new types of genetic analyses are reviewed.

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

&NA;Newborn screening for inborn errors of metabolism has improved the diagnosis and treatment of these disorders since the 1960s. Recently tandem mass spectrometry (MS/MS) was developed as a technique for expanding the scope and efficiency of newborn screening for inborn errors. It may offer more efficient identification of phenylketonuria, branched chain ketoaciduria (maple syrup urine disease) and homocystinuria, which are currently screened for by the use of bacterial inhibition assays. MS/MS also identifies analytes characteristic of disorders of fatty acid metabolism and organic acid metabolism, which are not identified in current programs. Recent studies indicate that MS/MS offers the opportunity to expand and advance newborn screening for inborn errors.

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

&NA;Inborn errors of fatty acid oxidation (FAO) represent a group of metabolic disorders that has brought forward many interesting developments, as highlighted by the rapid pace of discovery of new defects and by the recognition of an ever‐increasing spectrum of clinical phenotypes. This review includes a clinical and biochemical summary of the FAO disorders known to date, a synopsis of four recently discovered defects (short‐chain 3‐hydroxy acyl‐CoA [coenzyme A] dehydrogenase deficiency, medium‐chain 3‐ketoacyl‐CoA thiolase deficiency, 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency, and long‐chain fatty acid transport deficiency) and of two susceptibility variations in the short‐chain acyl‐CoA dehydrogenase gene, and guidelines for the biochemical work‐up of candidate patients.

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

&NA;Chromosome deletion and microdeletion syndromes account for an increasing number of clinically recognizable genetic conditions. New deletion syndromes continue to be characterized, and a number of previously described syndromes are being found to be due to chromosomal deletions or microdeletions. Fluorescentin situhybridization technologies are in wide clinical use to diagnose deletion and microdeletion syndromes, and future uses of these technologies will provide prognostic information for patients and their parents, as the genes responsible for the phenotypic aspects of various deletion syndromes are identified. Future research studies will focus on delineating critical deletion intervals at a molecular level, and identifying candidate genes for the phenotypic features of deletion and microdeletion syndromes, toward the goal of understanding the pathology of the abnormal developmental and physiologic processes involved in each syndrome.

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

&NA;Recent discoveries of genes involved in long‐QT syndrome (LQTS) have led to extensive progress in understanding the molecular basis for this disorder of syncope and sudden cardiac death secondary to ventricular arrhythmias. The emerging unifying theme is that all genes identified to date encode either structural or regulatory subunits for ion channels involved in cardiac repolarization. Defects have been identified in theKCNQ1, HERG, andKCNE1genes, whose proteins form the K+channels for the slowly and rapidly inwardly rectifying K+currents IKsand IKr. Depending on their location and copy number, mutations ofKCNQ1andKCNE1can cause either autosomal dominant Romano‐Ward syndrome or autosomal recessive Jervell and Lange‐Nielsen syndrome. The cardiac sodium channel gene,SCN5A, is also mutated in some Romano‐Ward cases to produce defects in INa, the cardiac inward Na+current. The fact that multiple genes are involved and that most LQTS mutations are “private” or “family‐specific” complicates molecular diagnosis of LQTS which, currently, is limited to a small number of research laboratories. In future, genotypic determination of LQTS patients and their family members will hopefully lead to improved gene‐specific prognostic determinations and therapeutic interventions.

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

&NA;This review provides an update on four areas of office practice: office laboratory procedures, office economics, patient and parent education, and urinary tract infection. Thomas Ball reviews physician office laboratories, with updates on the Clinical Laboratory Improvement Amendments, office proficiency testing, and office testing for streptococcal pharyngitis andHelicobacter pylori.Eve Shapiro reports on office economics, focusing on the influence of managed care on pediatric practice. Burris Duncan provides a review of the new National Institutes of Health asthma guidelines, and challenges us to become more involved in patient education. Richard Wahl reviews urinary tract infections, vesicoureteral reflux, dysfunctional voiding, and appropriate imaging studies. Our approach is to provide pediatricians with useful and practical information for their office practices.

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:1998

数据来源: OVID