Abstract:
:Duchenne muscular dystrophy is the second most common lethal genetic disorder in humans. With the advent of molecular genetic technology, the definition of this disease has been modified to include an abnormality of dystrophin in muscle--a dystrophinopathy. Accurate genetic counseling is possible using methods of deletion detection and linkage analysis. Treatment of this type of muscular dystrophy may soon mean the routine use of steroids and later include direct injection of an artificial gene for dystrophin.
journal_name
Pediatr Clin North Amjournal_title
Pediatric clinics of North Americaauthors
Iannaccone STdoi
10.1016/s0031-3955(16)38379-1subject
Has Abstractpub_date
1992-08-01 00:00:00pages
879-94issue
4eissn
0031-3955issn
1557-8240pii
S0031-3955(16)38379-1journal_volume
39pub_type
杂志文章,评审abstract::Eating behavior must be viewed as a complex phenomenon involving the coordination of motor, cognitive, social and emotional development, all under the regulation of both central and peripheral factors. Eating provides not only the necessary biologic substrate for human growth and normal physiologic function but is str...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)38334-1
更新日期:1992-06-01 00:00:00
abstract::This article reviews some of the challenges and pitfalls in communicating with families when abuse is part of the differential diagnosis and offers some suggestions for improving communication with parents and children in these challenging clinical settings. ...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2014.06.008
更新日期:2014-10-01 00:00:00
abstract::This review discusses disorders of altered neutrophil number and function and provide a basic framework for patient evaluation and management. The sections begin with neutropenia, neutrophilia and neutrophil dysfunction with a general screening approach to differentiate common, more benign syndromes from rare, often m...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(02)00030-5
更新日期:2002-10-01 00:00:00
abstract::Cerebral palsy describes a wide spectrum of motor problems caused by a nonprogressive lesion of the developing brain. It is variably associated with a variety of other developmental and medical problems that present challenges to parents and care providers alike. This article provides an overview of etiology and diagn...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2008.07.003
更新日期:2008-10-01 00:00:00
abstract::Sleep problems are common in many pediatric medical disorders and complicate management and patient outcomes. A wide range of conditions, including asthma, cystic fibrosis, sickle cell disease, gastroesophageal reflux, neuromuscular diseases, scoliosis, craniofacial abnormalities, obesity, and chromosomal disorders, h...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(03)00185-8
更新日期:2004-02-01 00:00:00
abstract::Outpatient encounters form the mainstay of managing type I diabetes mellitus in children and adolescents. Management philosophy rests on the premise that normal physical and emotional growth is attainable and long-term complications minimized by maintenance of metabolic (glycemic) control. Management principles involv...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)36295-2
更新日期:1987-08-01 00:00:00
abstract::Healthy children may present acute mountain sickness (AMS) within a few hours after arrival at high altitudes. In few cases, serious complications may occur, including high-altitude pulmonary edema and rarely high-altitude cerebral edema. Those with preexisting conditions especially involving hypoxia and pulmonary hyp...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2020.09.015
更新日期:2021-02-01 00:00:00
abstract::This article covers several aspects of the clinical management of neonatal hypoglycemia that have recently evolved, reviewing the evidence informing these recommended changes in practice. Topics covered include use of buccal dextrose gel, rationale for avoiding the traditional "mini dextrose bolus," and benefits of di...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2018.12.004
更新日期:2019-04-01 00:00:00
abstract::The adoptive process can produce unusual stresses on the child, and biologic and adoptive parents, from prenatal to postnatal life, and through the various phases of physical and pscyhological development. Because of the possibility of these children and their families falling into the "at risk" category with greater ...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:
更新日期:1975-08-01 00:00:00
abstract::Pediatricians, as well as other health care professionals, must always consider psychoactive drug use by adolescents as possible causes of general health or emotional problems, such as poor appetite, insomnia, problem behavior, academic underachievement, and loss of energy and motivation. Early diagnosis and intervent...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)36227-7
更新日期:1987-04-01 00:00:00
abstract::Neurodevelopmental disorders with identified genetic etiologies present a unique opportunity to study gene-brain-behavior connections in child psychiatry. Parsing complex human behavior into dissociable components is facilitated by examining a relatively homogenous genetic population. As children with developmental de...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/j.pcl.2011.06.010
更新日期:2011-08-01 00:00:00
abstract::Injury prevention can be achieved, but it will require a fundamental reexamination of our approach to injury causation. We must learn to examine the manufacturing and marketing practices of companies that produce the products associated with children's injuries, for these are the real culprits in our national childhoo...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/s0031-3955(16)34768-x
更新日期:1985-02-01 00:00:00
abstract::The safety of the blood supply has increased tremendously in the past decade. Donor screening and improved infectious disease testing of units for transfusion have contributed to the decreased risk of transfusion-transmitted diseases. Reduction of the number of passenger leukocytes from RBC and platelet transfusions d...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(05)70433-8
更新日期:1996-06-01 00:00:00
abstract::Adenotonsillectomy (AT) is one of the most common pediatric surgical procedures performed in the United States; more than 530,000 are performed annually in children younger than 15 years of age. AT was traditionally performed for recurrent tonsillitis and its sequelae but in recent times, sleep-disordered breathing/ob...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2013.04.015
更新日期:2013-08-01 00:00:00
abstract::Based on the current knowledge of pulmonary mechanics and the results of clinical studies, we have reviewed principles that govern gas exchange during assisted ventilation in infants with RDS. Guidelines for changes in ventilator settings have been presented with respect to their specific effects on CO2 elimination an...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)34977-x
更新日期:1986-02-01 00:00:00
abstract::Herpes simplex encephalitis (HSE) is an uncommon disease, yet 25 to 30 per cent of cases involve children. The initial clinical findings are nonspecific (fever, altered mental status), but most cases evolve to demonstrate focal neurologic signs and symptoms. The CSF is abnormal in over 90 per cent of cases. The EEG, C...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)36466-5
更新日期:1988-06-01 00:00:00
abstract::Endocrine disorders are common in infants in the neonatal ICU. They often are associated with prematurity, low birth weight or very low birth weight, and small size for gestational age. They also frequently occur in infants who are critically ill or stressed. This article describes the most common conditions and curre...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2011.07.003
更新日期:2011-10-01 00:00:00
abstract::Most children with cancer are immunocompromised during therapy and for a variable period after completion of therapy. They are at an increased risk of infections, including vaccine-preventable infections. There is a reduction in immunity to vaccine-preventable diseases after completion of standard-dose chemotherapy an...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2007.10.012
更新日期:2008-02-01 00:00:00
abstract::Persistent microscopic hematuria in children is most often benign or untreatable. The evaluation of microscopic hematuria in an otherwise healthy child need not require invasive and costly laboratory studies. The initial evaluation must look for signs of life-threatening causes of hematuria, i.e., hypertension, edema,...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)38119-6
更新日期:1991-06-01 00:00:00
abstract::Auricular reconstruction of microtia is available and is extremely satisfying for the patient, family, and care givers. The patient can look forward to a realistic pinna. With current research activity, auricular reconstruction could evolve even further. The pediatrician is an extremely important member of this effort...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(05)70516-2
更新日期:1996-12-01 00:00:00
abstract::This article discusses the implications of health care reform on the pediatric emergency department (ED). The author briefly discusses the health care costs and outcomes in the United States in comparison to other developed nations. The article discusses the impact of the Affordable Care Act and insurance expansion on...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2018.07.007
更新日期:2018-12-01 00:00:00
abstract::Selected topics of violence against children and adolescents that occur in countries outside of the United States are discussed. Focus is given to middle-income and low-income countries and emphasis is placed on the epidemiology of this pressing public health problem, particularly on conditions that are peculiar to ch...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(05)70016-x
更新日期:1998-04-01 00:00:00
abstract::Even though chest pain in children is a common complaint, an underlying gastrointestinal cause is rare. The four common gastrointestinal conditions that present with chest pain include eosinophilic esophagitis, gastroesophageal reflux disease, esophageal dysmotility, and foreign body ingestion. Other than ingestion of...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2010.09.008
更新日期:2010-12-01 00:00:00
abstract::Osteosarcoma is the most common neoplasm of bone in children and adolescents. The first effective therapy became available in the early 1970s, and although controversy existed for several years regarding the relative value of aggressive multiagent chemotherapy, presently about 60% of patients with resectable primary t...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)38080-4
更新日期:1991-04-01 00:00:00
abstract::Youth-onset type 2 diabetes is a serious public health problem for Indigenous people throughout the world. This article reviews the epidemiology, disease burden, treatment, and challenges in achieving successful clinical management of this disorder in Indigenous youth. Screening criteria and the complications and como...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2009.09.013
更新日期:2009-12-01 00:00:00
abstract::Children with life-threatening illnesses and their families may face physical, emotional, psychosocial, and spiritual challenges throughout the children's course of illness. Pediatric palliative care is designed to meet such challenges. Given the psychosocial and emotional needs of children and their families it is cl...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/j.pcl.2011.06.003
更新日期:2011-08-01 00:00:00
abstract::Radiologic studies are a vital component in the workup and diagnosis of disease. An appropriate radiographic study will accurately rule in or rule out disease with the least possible harm. Special considerations are necessary for the imaging of children. Current trends in pediatric imaging support the increased use of...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2013.06.004
更新日期:2013-10-01 00:00:00
abstract::Five issues are discussed with respect to the diagnosis, etiology, treatment, prognosis, and pathogenesis of neonatal seizures. The presentation of a newborn with seizures represents a true emergency and frequently indicates significant neurologic dysfunction or damage to the immature nervous system. Despite the urgen...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)36650-0
更新日期:1989-04-01 00:00:00
abstract::The presentation, etiology, diagnostic examination, and management of pediatric cataracts are discussed in this article. If untreated, cataracts result in significant visual deprivation. Evaluation of the pupillary light reflex should become an integral part of every pediatrician's physical examination. Patients shoul...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)38591-1
更新日期:1993-08-01 00:00:00
abstract::Beginning with a brief description of mature anatomic pathways and neurotransmitters in the "pain system," this article details their development in the human fetus, neonate, and child. Special emphasis is given to the basic mechanisms and physiologic effects of opioid analgesia. The clinical implications of these dat...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)36722-0
更新日期:1989-08-01 00:00:00