Genetics of pediatric interstitial lung disease.

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 diseases in children. RECENT FINDINGS:Mutations in the genes encoding surfactant protein C, SFTPC, and a member of the adenosine triphosphate-binding cassette family of proteins, ABCA3, have been shown to result in pediatric interstitial lung diseases inherited in autosomal-dominant and autosomal-recessive patterns, respectively. There is overlap in both the clinical and histopathologic features of these disorders. SUMMARY:Identification of genes responsible for pediatric interstitial lung diseases provides the opportunity for noninvasive testing to establish an etiologic diagnosis, to counsel family members for their recurrence risk, and to classify these rare disorders more accurately. A better understanding of the cause and pathophysiology of these disorders may provide additional insights into the causes of other forms of pediatric interstitial lung diseases, and may suggest novel treatment approaches.

journal_name

Curr Opin Pediatr

authors

Nogee LM

doi

10.1097/01.mop.0000193310.22462.1f

subject

Has Abstract

pub_date

2006-06-01 00:00:00

pages

287-92

issue

3

eissn

1040-8703

issn

1531-698X

pii

00008480-200606000-00012

journal_volume

18

pub_type

杂志文章,评审
  • Timing of umbilical cord clamping after birth for optimizing placental transfusion.

    abstract:PURPOSE OF REVIEW:A brief delay in clamping the umbilical cord after birth offers health benefits to the newborn, with no adverse effects to the mother or her infant. Yet, in most obstetric practice, the cord is clamped soon after birth. A summary of the current evidence on delayed cord clamping and some reasons for th...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32835d2a9e

    authors: Raju TN

    更新日期:2013-04-01 00:00:00

  • Intracranial hypertension: a current review.

    abstract:PURPOSE OF REVIEW:To provide a current review of recent publications with regards to intracranial hypertension. RECENT FINDINGS:Attempts were made to provide pediatric data; however, the recent completion of the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT) has provided a wealth of data with regards to ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000689

    authors: Jordan CO,Aylward SC

    更新日期:2018-12-01 00:00:00

  • Surgical treatment of femoroacetabular impingement after slipped capital femoral epiphysis.

    abstract:PURPOSE OF REVIEW:Femoroacetabular impingement (FAI) post slipped capital femoral epiphysis (SCFE) may lead to degenerative changes on the hip. We have reviewed the current procedures in the literature, aiming to correct the SCFE to prevent FAI and the ones that treat FAI post SCFE. RECENT FINDINGS:The trends of manag...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000565

    authors: Soni JF,Valenza WR,Uliana CS

    更新日期:2018-02-01 00:00:00

  • Role of growth factors in lung repair and diseases.

    abstract::A number of growth factors have been identified that participate in lung growth and repair. The early stages of the repair cascade are important in preventing the later development of fibrosis. Both transforming growth factor-beta and basic fibroblast growth factor can have beneficial effects when given early in some ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199506000-00002

    authors: Perkett EA

    更新日期:1995-06-01 00:00:00

  • Population screening for cystic fibrosis.

    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

    authors: Brock DJ

    更新日期:1996-12-01 00:00:00

  • Biology of the X chromosome.

    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...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200108000-00010

    authors: Gartler SM,Goldman MA

    更新日期:2001-08-01 00:00:00

  • Pediatric guidelines: help or hindrance?

    abstract::Guidelines are an increasingly prominent part of the practice of pediatrics. Aiming from studies of variability in care, they are widely used as a mechanism to assess and improve quality. Rigorous methods of guideline development differentiate current guidelines from past consensus efforts. The American Academy of Ped...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199610000-00002

    authors: Homer CJ,Grossman RG,Rodman J

    更新日期:1996-10-01 00:00:00

  • Role of hypertension in progression of chronic kidney disease in children.

    abstract:PURPOSE OF REVIEW:Hypertension is an independent risk factor for progression of chronic kidney disease (CKD) in children. Children with early CKD develop hypertension secondary to renal disease. This review aims to highlight recent advances that help us better understand the current role of hypertension in progression ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000595

    authors: Vidi SR

    更新日期:2018-04-01 00:00:00

  • Genetic etiologies of severe congenital neutropenia.

    abstract:PURPOSE OF REVIEW:To review recent advances in severe congenital neutropenia (SCN) syndromes. RECENT FINDINGS:The majority of patients with SCN bear monoallelic mutations in the neutrophil elastase (ELANE) gene. Biallelic mutations in the antiapoptotic gene HAX1 were identified in patients with autosomal recessive SCN...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32834262f8

    authors: Boztug K,Klein C

    更新日期:2011-02-01 00:00:00

  • Tarsal coalition.

    abstract::Tarsal coalition is a common abnormality of the hindfoot skeleton that only rarely leads to symptoms. These symptoms occur most commonly in adolescence but rarely can be found also in adults. Although most coalitions are congenital, as the consequence of autosomal dominant inheritance, coalitions also can be acquired ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200102000-00005

    authors: Bohne WH

    更新日期:2001-02-01 00:00:00

  • Quality improvement in pediatric surgery.

    abstract:PURPOSE OF REVIEW:The goal of this review is to provide updates on the evolution of conceptual definitions as they relate to quality in healthcare, existing measurement platforms for performance benchmarking in pediatric surgery, and available tools for quality improvement that are relevant to care of the pediatric sur...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000346

    authors: Cameron DB,Rangel SJ

    更新日期:2016-06-01 00:00:00

  • Targeting the Ras pathway in pediatric hematologic malignancies.

    abstract:PURPOSE OF REVIEW:Ras pathway mutations are one of the most common type of alterations in pediatric hematologic malignancies and are frequently associated with adverse outcomes. Despite ongoing efforts to use targeted treatments, there remain no Food and Drug Administration (FDA)-approved medications specifically for c...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章

    doi:10.1097/MOP.0000000000000981

    authors: Pikman Y,Stieglitz E

    更新日期:2021-02-01 00:00:00

  • Ultrasound for screening developmental dysplasia of the hip: a European perspective.

    abstract:PURPOSE OF REVIEW:For the past 20 years, sonography of the hip has become the imaging procedure of choice to diagnose hip maturation disorders in German-speaking countries. In Austria, hip sonography is a mandatory and essential feature of preventive public health measures; the "Mutter-Kind-Pass" has been the official ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/01.mop.0000151554.10176.34

    authors: Dorn U,Neumann D

    更新日期:2005-02-01 00:00:00

  • Functional assessment of the evolution of congenital heart disease in utero.

    abstract:PURPOSE OF REVIEW:This article reviews recent developments in the assessment of changes in structure and function in the fetal heart with the focus on congenital heart disease malformations. RECENT FINDINGS:Use of the combination of the cardiovascular profile score, the biophysical profile score and additional physiol...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e3282efd2a2

    authors: Acharya G,Archer N,Huhta JC

    更新日期:2007-10-01 00:00:00

  • Pediatric cardiac intensive care: current state of the art and beyond the millennium.

    abstract::Pediatric cardiac intensive care has emerged as a distinct clinical entity to meet the unique needs of pediatric patients with congenital and acquired heart disease. This new subspecialty demands expertise and experience in the pediatric subspecialties of cardiology, intensive care, cardiac surgery, cardiac anesthesia...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200006000-00011

    authors: Chang AC

    更新日期:2000-06-01 00:00:00

  • The role of the pediatrician in smoking prevention.

    abstract::Smoking prevention during childhood and adolescence is critical to the successful reduction of tobacco-related morbidity and mortality in the United States. The research literature is replete with surveys describing youth smoking acquisition and related factors. In addition to its direct harm, tobacco use may be a gat...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199706000-00006

    authors: Sockrider MM

    更新日期:1997-06-01 00:00:00

  • Insular carcinoma of the thyroid in an adolescent: a case report and review of the literature.

    abstract::A 15-year-old girl was referred for a thyroid gland mass, which rapidly enlarged in the brief interval between initial evaluation and surgery. Fine needle aspiration of the mass suggested a diagnosis of papillary thyroid carcinoma. Upon pathological examination of this aggressive tumor, an "insular" pattern of tumor w...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200310000-00010

    authors: Yusuf K,Reyes-Mugica M,Carpenter TO

    更新日期:2003-10-01 00:00:00

  • Advances in the understanding and treatment of atopic dermatitis.

    abstract::Atopic dermatitis is the most common chronic skin disease of young children and is frequently associated with asthma and allergies. Th2-type cytokine secreting T cells expressing the cutaneous lymphocyte-associated antigen play a central role in the induction of local IgE responses and recruitment of eosinophils in th...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199712000-00005

    authors: Boguniewicz M

    更新日期:1997-12-01 00:00:00

  • Choledochal cysts.

    abstract::Choledochal cysts are a relatively rare abnormality in the West but are more common in the East. The etiology of choledochal cysts remains unknown. Recently, the incidence in neonates and young infants has been increasing due to advances in diagnostic imaging, including antenatal diagnosis. Choledochal cysts can prese...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199706000-00018

    authors: Miyano T,Yamataka A

    更新日期:1997-06-01 00:00:00

  • Hirschsprung's disease in children.

    abstract::Several advances in understanding Hirschsprung's disease have developed in the past year. A greater understanding of the etiology of the disease has developed through the association of Hirschsprung's disease with a lack of neural cell adhesion molecule expression and nitric oxide in aganglionic portions of the bowel....

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199506000-00014

    authors: Teitelbaum DH

    更新日期:1995-06-01 00:00:00

  • Disorders of cerebellar growth and development.

    abstract:PURPOSE OF REVIEW:This review summarizes for the pediatrician the current understanding of normal cerebellar and brainstem development, and then discusses selected malformations to highlight advances in the area. The impact of prematurity on cerebellar growth and development is then examined. The important insights pro...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32801080e8

    authors: Limperopoulos C,du Plessis AJ

    更新日期:2006-12-01 00:00:00

  • New insights into adolescent acne.

    abstract:PURPOSE OF REVIEW:Acne vulgaris remains one of the most common conditions affecting adolescents. The pediatric practitioner is the first to evaluate adolescent acne, making familiarity with the condition and its management essential. This review covers some of the recent literature regarding acne to help practitioners ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e328305e273

    authors: Tom WL,Barrio VR

    更新日期:2008-08-01 00:00:00

  • Neurocutaneous disorders in children.

    abstract::Neurocutaneous syndromes are disorders with cutaneous and neurologic anomalies. Some of these disorders are hereditary. This review summarizes the advances in this field and the recent results obtained in clinical and scientific research on the following syndromes: neurofibromatosis type 1, tuberous sclerosis, Gorlin-...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199308000-00011

    authors: Küster W,Happle R

    更新日期:1993-08-01 00:00:00

  • Tobacco use cessation counseling of parents.

    abstract:PURPOSE OF REVIEW:Tobacco use and secondhand tobacco smoke exposure of children are a significant problem faced by pediatricians. This article reviews the recommendations of the 2008 update of the guideline Treating Tobacco Use and Dependence and their application in the pediatric setting. RECENT FINDINGS:Every tobacc...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/mop.0b013e328317f1d2

    authors: Caponnetto P,Polosa R,Best D

    更新日期:2008-12-01 00:00:00

  • Racial/ethnic disparities in preterm birth: clues from environmental exposures.

    abstract:PURPOSE OF REVIEW:Despite advances in medical care, preterm birth and its associated racial/ethnic disparities remain major public health issues. Environmental exposures may contribute to racial disparities in preterm birth. RECENT FINDINGS:Recent work in Iran demonstrated lead levels less than 10 μg/dl to be associat...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e328344568f

    authors: Burris HH,Collins JW Jr,Wright RO

    更新日期:2011-04-01 00:00:00

  • Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) skin infections.

    abstract:PURPOSE OF REVIEW:Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) has become increasingly important as a cause of skin and soft tissue infections (SSTIs), particularly abscesses, in patients seen in the emergency department setting. The antibiotic sensitivity profile of Staphylococcus aureus ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e328339421b

    authors: Odell CA

    更新日期:2010-06-01 00:00:00

  • Antibiotic drug allergy in children.

    abstract::Cutaneous reactions to penicillin-type antibiotics are usually caused by IgE-mediated reactions directed toward the beta-lactam ring (in penicillin, ampicillin-amoxicillin, and cephalosporins). These allergic reactions may be reliably diagnosed (96% to 99% of the time) with a battery of skin tests derived from penicil...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199412000-00008

    authors: Anderson JA

    更新日期:1994-12-01 00:00:00

  • Nongenomic regulation of gene expression.

    abstract:PURPOSE OF REVIEW:The purpose of this review is to highlight the recent advances in epigenetic regulation and chromatin biology for a better understanding of gene regulation related to human disease. RECENT FINDINGS:Alterations to chromatin influence genomic function, including gene transcription. At its most simple l...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000365

    authors: Iglesias-Platas I,Monk D

    更新日期:2016-08-01 00:00:00

  • Nonalcoholic fatty liver disease in the pediatric population: a review.

    abstract:PURPOSE OF REVIEW:Nonalcoholic fatty liver disease is a common condition that may progress to end stage liver disease. It is closely associated with obesity and insulin resistance, two conditions whose prevalence is increasing dramatically in children. This could potentially make nonalcoholic fatty liver disease the mo...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/01.mop.0000172816.79637.c5

    authors: Wieckowska A,Feldstein AE

    更新日期:2005-10-01 00:00:00

  • Atopic dermatitis update.

    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

    authors: Sturgill S,Bernard LA

    更新日期:2004-08-01 00:00:00