Abstract:
:The biology of the X chromosome is unique, as there are two Xs in females and only a single X in males, whereas the autosomes are present in duplicate in both sexes. The presence of only a single autosome, which can occur as a result of an error in meiotic segregation, is invariably an embryonic lethal event. Monosomy for the X chromosome is viable because of dosage compensation, a system found in all organisms with an X:Y form of sex determination, which brings about equality of expression of most X-linked genes in females and males. In mammals, the dosage compensation system involves silencing of most of the genes on one X chromosome; it is called X chromosome inactivation. In this review, we focus first on recent advances in our understanding of the molecular basis of the X inactivation mechanism. Then we consider an unusual feature of X inactivation, the mosaic nature of the female and subsequent exposure to somatic cell selection.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Gartler SM,Goldman MAdoi
10.1097/00008480-200108000-00010keywords:
subject
Has Abstractpub_date
2001-08-01 00:00:00pages
340-5issue
4eissn
1040-8703issn
1531-698Xjournal_volume
13pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:Screening, brief intervention and referral to treatment (SBIRT) offers a practical, integrated model for addressing substance use in primary care settings. This review provides an update of the research on SBIRT for adolescents in primary care, examines current dissemination challenges and suggests fu...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000371
更新日期:2016-08-01 00:00:00
abstract::In the 7 years since the cystic fibrosis (CF) gene has been cloned, many experimental trials of population screening for CF heterozygotes have been reported. Targeting young adults near reproductive age has shown that the method in which screening is offered is a major determinant of acceptance rates: personal invitat...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199612000-00016
更新日期:1996-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review outlines the current approaches to prenatal imaging, differential diagnosis, antenatal natural history, and the available treatment options for the most commonly prenatally diagnosed malignant tumors. RECENT FINDINGS:In-utero diagnosis of fetal tumors, although still a rare event, has bec...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835c1d71
更新日期:2013-02-01 00:00:00
abstract:PURPOSE OF REVIEW:To emphasize an exploration of mechanisms of kidney stone disease based on a molecular understanding of excess urinary excretions of calcium, oxalate, cystine, and uric acid. RECENT FINDINGS:Hypercalciuria is discussed relative to mutations in the renal chloride genes CLCN5 and CLCNKB, WNK kinases, A...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200404000-00013
更新日期:2004-04-01 00:00:00
abstract::Lemierre's disease, also known as 'postanginal sepsis', 'necrobacillosis', or 'internal jugular vein thrombosis', is a rare but serious emerging infection. Although Lemierre's disease remains rare, the number of reported cases has risen in recent years as more judicious antimicrobial prescribing practices for viral up...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章
doi:10.1097/MOP.0b013e3283294c5e
更新日期:2009-06-01 00:00:00
abstract:PURPOSE OF REVIEW:This update explores the current management options for adolescent obesity with a specific focus on bariatric surgery. RECENT FINDINGS:Research has highlighted the serious health complications associated with adolescent obesity and thus emphasized the need for effective interventions. With the increa...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000243
更新日期:2015-08-01 00:00:00
abstract::Two toddlers presented to their primary medical providers with anasarca and severe anemia. Laboratory evaluation revealed iron deficiency along with hypoproteinemia and hypoalbuminemia. Both children were diagnosed with iron deficiency anemia and were suspected to have an associated protein-losing enteropathy. A brief...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32834dfc92
更新日期:2012-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinicall...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000541
更新日期:2017-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Selective mutism is a disorder in which an individual fails to speak in certain social situations though speaks normally in other settings. Most commonly, this disorder initially manifests when children fail to speak in school. Selective mutism results in significant social and academic impairment in ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000300
更新日期:2016-02-01 00:00:00
abstract:PURPOSE OF REVIEW:We present data from recently conducted research on the diagnosis and management of skin and soft tissue infections (SSTIs) in children. RECENT FINDINGS:Current research in the area of SSTIs (cellulitis and abscess) has focused on the use of ultrasound, risk factors associated with bacteremia, antibi...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000213
更新日期:2015-06-01 00:00:00
abstract::Food allergy or hypersensitivity is defined as an adverse reaction to food protein which is immune mediated. Without standard definitions and reliable tests for many forms of allergic disease of the bowel, studies are difficult to interpret. The proceedings of a recent workshop on the classification of adverse immunol...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200010000-00006
更新日期:2000-10-01 00:00:00
abstract::In this section we review four broad topics in pediatrics: atopic disease, rhinitis and conjunctivitis, upper respiratory tract infections, and insect stings and snake bites. The first three topics comprise three of the most commonly encountered problems in pediatric practice. Although the fourth topic accounts for a ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199410000-00018
更新日期:1994-10-01 00:00:00
abstract:PURPOSE OF REVIEW:The small bowel has been a technically difficult area to examine. Indirect modalities such as barium follow-through have the disadvantage of attendant radiation exposure. Capsule endoscopy, a novel wireless method of investigation of the small bowel, has acquired an important role in both adult and pa...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282e2aaf8
更新日期:2007-10-01 00:00:00
abstract::Disruptive behavior disorders present grave complications to normal childhood development. Their presence is frequently associated with additional psychiatric disorders. The hallmark features of the disruptive behavior disorders range from noncompliance to aggressive hostility toward authorities or peers. Oppositional...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199708000-00007
更新日期:1997-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Owing to its aggressive clinical course and associated immunologic abnormalities, pediatric inflammatory bowel disease (IBD) is increasingly managed with immunomodulators and biologic agents. Clinical experience with therapy targeted against tumor necrosis factor-alpha has raised important questions a...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32832ff22c
更新日期:2009-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Inherited disorders of calcium and phosphate homeostasis have variable presentation and can cause significant morbidity. An understanding of the mode of inheritance and pathophysiology of these conditions will help in the diagnosis and early institution of therapy. RECENT FINDINGS:Identification of g...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章
doi:10.1097/MOP.0000000000000064
更新日期:2014-04-01 00:00:00
abstract::Preimplantation genetic diagnosis now represents an alternative reproductive option for parents at high risk of having offspring affected with certain genetic diseases. Progress in the past year has included increasing reliability in embryo sexing by both polymerase chain reaction and fluorescent in situ hybridization...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199412000-00018
更新日期:1994-12-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide clinicians with an updated overview of key considerations related to the clinical assessment and management of attention-deficit/hyperactivity disorder (ADHD) in adolescents. RECENT FINDINGS:The American Psychiatric Association's recently revised Diagnostic and Statistical Manual of Mental...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000053
更新日期:2014-02-01 00:00:00
abstract::In the recent past, we have seen novel information on the bidirectional interactions between the endocrine and immune systems. Thus, the central nervous system, through the hypothalamic-pituitary-adrenal axis and the peripheral autonomic and sensory systems, influences the quantity and the quality of the immune and in...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199508000-00017
更新日期:1995-08-01 00:00:00
abstract::In the past year, significant progress has been achieved in the research on aquaporins (AQPs), a family of structurally related molecular water channels. Three novel AQPs were identified, giving a total of ten mammalian AQPs. An important step forward in identifying the aqueous pore in AQP molecules was the determinat...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199808000-00018
更新日期:1998-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The interstitial lung diseases are a heterogeneous group of rare disorders of largely unknown etiology. The occurrence of familial cases of pediatric interstitial lung diseases with the onset of symptoms developing early in infancy has suggested a genetic basis for some forms of interstitial lung dise...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000193310.22462.1f
更新日期:2006-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Atypical skull shapes occur in as many as 20% of infants. The purpose of this review is to discuss the clinical approach to the evaluation of a child with an abnormal head shape. Readers will learn how to identify the head shapes caused by environmental deformation and craniosynostosis. We also review...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282f1581a
更新日期:2007-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Atopic dermatitis, one of the most common chronic illnesses of childhood, is encountered routinely by all providers of health care to children. RECENT FINDINGS:In recent years there has been a dramatic rise in the prevalence of atopic dermatitis and therefore a rapid increase in the number of studies...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000133632.33920.dd
更新日期:2004-08-01 00:00:00
abstract::The Back to Sleep Campaigns remain the greatest influence on the reduction of sudden infant death syndrome. Blatt and Meguid review updates on the effectiveness of these campaigns in reducing sudden infant death syndrome. They also review studies on why parents do not follow this proven advice. The contribution of the...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200004000-00017
更新日期:2000-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Childhood malnutrition is a major global health issue. It is often thought of as a developing world problem and therefore, underdiagnosed or misdiagnosed in developed countries. The delay in diagnosis and treatment can lead to increased morbidity and mortality. Cutaneous manifestations are often the i...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000652
更新日期:2018-08-01 00:00:00
abstract::Recent neonatal intensive care outcome studies are asking more focused research questions and incorporating, at least implicitly, pathogenetic models. A few have grappled with the complex issues of health-related quality of life and functional outcomes and the many factors that affect these outcomes. The need to evalu...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200004000-00005
更新日期:2000-04-01 00:00:00
abstract::Endocrine excesses or deficiencies frequently result in alterations of height as compared with age-matched children. Less clinically obvious are significant alterations in bone metabolism leading to osteoporosis, which can affect the child and may affect the patient as an adult. Slipped capital femoral epiphysis appea...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199602000-00015
更新日期:1996-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Infantile spasms, mental retardation, autism, and dystonia represent disabling diseases for which little etiologic information is available. Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200312000-00004
更新日期:2003-12-01 00:00:00
abstract::Gastrointestinal issues are a major chronic problem in 80 to 90% of children with cerebral palsy and in children with neurodevelopmental disabilities who are at special risk of developing malnutrition because of uncoordinated swallowing, gastroesophageal reflux, and constipation. In addition to poor linear growth, the...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200110000-00010
更新日期:2001-10-01 00:00:00
abstract::Traditionally, family members were excluded from viewing invasive procedures and cardiopulmonary resuscitation in the pediatric emergency department. The concept of family-centered care in the emergency department has now become more widespread. Consequently, family member presence during routine invasive procedures s...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200306000-00012
更新日期:2003-06-01 00:00:00