ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

Risk factors for cerebral palsy in term or near-term children include intrauterine exposure to infection or inflammation and disorders of coagulation. Interruption of the oxygen supply during birth contributes approximately 6% of spastic cerebral palsy. Low Apgar score, need for resuscitation, and seizures are nonspecific indicators of neonatal illness that do not identify cause. Although not entirely consistent, current evidence suggests that in utero infection may predispose very preterm and more mature infants to cerebral palsy and that antenatal exposure to steroids may be somewhat protective. Recognition of a broader set of causal possibilities encourages hope for new strategies for the prevention of cerebral palsy.

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

In the past, children with many brain malformations were classfied as having static encephalopathies (cerebral palsy), often attributed to perinatal or prenatal distress. Understanding of the frequency and clinical manifestations Of brain malformations, however, has increased dramatically in the past 10 to 15 years. During this time, it has become apparent that many static encephalopathies in children have a brain malformation as their substrate. Most of the increase in our knowledge can be attributed to advances in neuroimaging and in molecular biology. In general, radiologic analysis of the brain allows similar malformations to be classified together. Subsequent genetic analysis of the affected children often reveals the affected gene, leading to identification of the gene product and, ideally,' an ultimate understanding of the molecular mechanism of malformation. Currently, many genes involved in the complicated process of neuronal proliferation, migration, and organization are being identified. Knowledge of these genes and a better radiologic classification system enable the referring physician to give better care, more sophisticated genetic counseling, and a more precise prognosis for the child. To illustrate this mechanism of classification, three groups of malformations are discussed, in which a combination of neuroimaging analysis and molecular biologic analysis have led to a new understanding of the malformation syndromes. Curr Opin Pediatr 1999, 11492–496 © 1999 Lippincott Williams & Wilkins, Inc.

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected-the motor neuron in the spinal cord, the nerve root or peripheral nerve, the neuromuscular junction or the muscle-and then on the determination of the etiology and specific clinical entity. This review provides an overview of the major neuromuscular disorders of childhood with attention to recent advances and emerging areas of research. Curr Opin Pediatr 1999.11:497–503 © 1999 Lippincott Williams 4 Wiikins, Inc.

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

Cerebral palsy refers to a neurologic disorder of motor skills that is static in nature and is the result of injury to the brain before its development is complete. Many neurodegenerative or metabolic disorders have a slow rate of progression and can be misdiagnosed as cerebral palsy. Diseases that have been misdiagnosed as cerebral palsy are presented here to provide the clinician with framework for the complex evaluation of these patients. Curr Opin Pediatr 1999, 11:504–507 © 1999 Lippincott Williams & Wilkins, Inc.

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

Ethics concerns itself with the search for the good and right option when one faces a choice about a potential action. In persons with significant neurodevelopmental disabilities, clinical ethics has concentrated on such pragmatic issues as justice (the means and measures by which resources are allocated) and informed consent. However, recent papers relevant to this topic have addressed more fundamental issues that underlie our entire approach to the field as a whole. These issues include the moral status of the disabled, the concept of “quality of We,” our attitudes toward the disabled, the elements of competence and its evaluation, and models for decision making. This review highlights recent papers on these topics and assesses their impact on ongoing ethical debates. Curr Opm Fediatr 1999, 11:508–511 © 1999 Lippincott Williams & Wilkins, Inc.

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

Autoimmune Lymphoproliferative Syndrome (ALPS) is a recently recognized disease in which a genetic defect in programmed cell death, or apoptosis, leads to breakdown of lymphocyte homeostasis and normal immunologic tolerance. Some authors have referred to ALPS as Canale-Smith syndrome or lymphoproliferative syndrome with autoimmunity. Patients with ALPS have chronic enlargement of the spleen and lymph nodes, various manifestations of autoimmunity, and elevation of a normally rare population of “double negative T cells” (DNTs), T lymphocytes bearing αβ T cell receptors and expressing neither cluster differentiation (CD)4 nor CD8 surface antigens. When lymphocytes from patients with ALPS are cultured in vitro, they are resistant to apoptosis as compared to cells from healthy controls. Most patients with ALPS have mutations in a gene how named TNFRSF6 (tumor necrosis factor receptor gene superfamily member 6). This gene, previously known as apoptosis antigen 1 (APT1), encodes the cell surface receptor for the major apoptosis pathway in mature lymphocytes; this receptor has also had many names, including Fas (to be used here), CD95, and APO-1. ALPS is subdivided into: 1) Type la, ALPS with mutant Fas; 2) Type Ib, lymphadenopathy and mutation in the ligand for Fas in one patient with systemic lupus erythematosus; 3) Type II, ALPS with mutant caspase 10; and 4) Type III, ALPS as yet without any defined genetic cause. Curr Opin Pediatr 1999, 11:521 −527 © 1999 Lippincott Williams 4 Wilkins, Inc.

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID

摘要:

Mutation detection for X-linked agammaglobulinemia (XLA) has revealed the heterogeneity of the clinical phenotype of patients with defects in Bruton's tyrosine kinase (Btk), the gene that is abnormal in XLA. Over 50% of patients with mutations in Btk have no family history of the disease because their cases are the first manifestation of a new mutation in their family. In 10% to 20% of patients, the serum immunoglobulins are higher than expected or the onset of disease is delayed; however, a marked reduction in B-cell numbers is consistent in all patients. Mutation detection has also shown that not all patients with presumed XLA have mutations in Btk. Mutations in μ heavy chain, and other components of the pre-B cell receptor complex, including Λ5/14.1, cause a disorder that is clinically identical to XLA. Although new strategies for therapy are not yet available, the groundwork is being laid for cell or gene therapy. Curr Opin Pediatr 1999, 11:528–532 © 1999 Lippincott Williams & Wilkins, Inn.

ISSN:1040-8703    

出版商:OVID    

年代:1999

数据来源: OVID