Advances in the genetics and treatment of von Willebrand disease.

Abstract:

:von Willebrand disease (VWD) is a bleeding disorder caused by quantitative (type 1 and 3) or qualitative (type 2) defects of von Willebrand factor (VWF). The mechanisms of most inherited VWD types have been recently elucidated by genetic and molecular diagnosis, but the phenotypic tests based on measurements of plasma and platelet VWF, the ability of VWF to interact with its platelet receptor, and the analysis of the multimeric composition of VWF are always essential to identify patients with different VWD subtypes. The aim of treatment is to correct the dual defects of hemostasis, ie, abnormal coagulation expressed by low levels of factor VIII (FVIII) and abnormal platelet adhesion expressed by prolonged bleeding time (BT). Desmopressin is the treatment of choice in most patients with type 1 and type 2 VWD, who account for 60 to 70% of cases. In type 3 and in some severe forms of type 1 and type 2 VWD, desmopressin is not effective, and it is necessary to resort to plasma concentrates containing FVIII and VWF. Treated with virucidal methods, these concentrates are effective and currently safe, but they do not always correct the BT defect. Platelet concentrates or desmopressin can be used as adjunctive treatments when poor correction of the BT after concentrates is associated with continued bleeding.

journal_name

Curr Opin Pediatr

authors

Federici AB,Mannucci PM

doi

10.1097/00008480-200202000-00005

keywords:

subject

Has Abstract

pub_date

2002-02-01 00:00:00

pages

23-33

issue

1

eissn

1040-8703

issn

1531-698X

journal_volume

14

pub_type

杂志文章,评审
  • Development of an enhanced recovery protocol for children undergoing gastrointestinal surgery.

    abstract:PURPOSE OF REVIEW:Enhanced recovery protocols (ERPs) have been adopted for a variety of adult surgical conditions and resulted in markedly improved outcomes, including decreased length of stays, complications, costs, and narcotic utilization. In this review, we describe the development and implementation of an ERP for ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000622

    authors: Raval MV,Heiss KF

    更新日期:2018-06-01 00:00:00

  • Developmental surveillance of infants and young children in pediatric primary care.

    abstract:PURPOSE OF REVIEW:This article reviews the importance of appropriate developmental surveillance in early childhood, what is known about its effectiveness in current pediatric practice, and ways in which its delivery can be improved to optimize child outcomes. RECENT FINDINGS:Many infants and young children with develo...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200312000-00014

    authors: King TM,Glascoe FP

    更新日期:2003-12-01 00:00:00

  • Atopic dermatitis and alternative management strategies.

    abstract:PURPOSE OF REVIEW:To discuss the significance of studies published over the previous year regarding the pathogenesis and treatment of atopic dermatitis, including prevention, skin care, environmental modifications, nutrition, education, and anti-inflammatory medications. RECENT FINDINGS:Recent evidence shows that 42.5...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32832130a9

    authors: Anderson PC,Dinulos JG

    更新日期:2009-02-01 00:00:00

  • Assessment of attention deficit hyperactivity disorder: a review of recent literature.

    abstract::Attention deficit hyperactivity disorder is one of the most common behavioral disorders of childhood and is frequently assessed and treated by pediatricians and other primary care physicians. The diagnosis of attention deficit hyperactivity disorder is based on the careful synthesis of clinical data derived from multi...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200008000-00006

    authors: McGough JJ,McCracken JT

    更新日期:2000-08-01 00:00:00

  • Atopic diseases and upper respiratory infections.

    abstract::This article reviews information on the topics of asthma, atopic dermatitis, food allergy, and upper respiratory infections. The asthma section provides an in-depth look at sociodemographic factors contributing to asthma morbidity and the barriers to asthma control. New findings on the triggers and therapies of atopic...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200010000-00018

    authors: Lester MR,Schneider LC

    更新日期:2000-10-01 00:00:00

  • Autoimmune lymphoproliferative syndrome, a disorder of apoptosis.

    abstract::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 wi...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199912000-00009

    authors: Jackson CE,Puck JM

    更新日期:1999-12-01 00:00:00

  • Informatics and general pediatrics.

    abstract::Medical informatics is both a science, which seeks to understand the information requirements of medical practice, research, and education, and an engineering discipline, which applies new technologies to help manage the explosion of data and new knowledge that confront contemporary physicians. Computerization of the ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:

    authors: Shiffman RN

    更新日期:1994-10-01 00:00:00

  • Selective mutism.

    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

    authors: Hua A,Major N

    更新日期:2016-02-01 00:00:00

  • Pathogenesis of food allergy in infants.

    abstract::Three main factors are needed for an infant to develop allergy: allergen exposure, a genetic predisposition, and contributory factors. Recent literature suggests that the incidence of in utero sensitization might have been underestimated up to now. A number of papers provide evidence that atopic dermatitis should be r...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199310000-00009

    authors: Vandenplas Y

    更新日期:1993-10-01 00:00:00

  • Pulmonary edema in infants and children.

    abstract:PURPOSE OF REVIEW:To provide an overview of the pathogenesis of pulmonary edema and describe recent discoveries related to the clearance of airspace fluid and potential new therapies for this life-threatening disorder. RECENT FINDINGS:It is clinically important to determine the mechanisms responsible for the clearance...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章

    doi:10.1097/01.mop.0000159780.42572.6c

    authors: O'Brodovich H

    更新日期:2005-06-01 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

  • Cutaneous bacterial infections in the newborn.

    abstract:PURPOSE OF REVIEW:This review examines neonatal bacterial skin infections with respect to host immunity, bacterial pathogens, patterns of infection, and new therapeutic approaches. RECENT FINDINGS:Advances have been made in our understanding of innate host defense and the emerging role of cutaneous antimicrobial pepti...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/01.mop.0000171321.68806.bd

    authors: Larson AA,Dinulos JG

    更新日期:2005-08-01 00:00:00

  • Steroid therapy for asthma in children.

    abstract:PURPOSE OF REVIEW:To highlight studies that have contributed significantly to our current knowledge of inhaled glucocorticoids in childhood asthma. RECENT FINDINGS:In 2006, three important studies were published that investigated whether inhaled glucocorticoid therapy, if started soon after the onset of asthma symptom...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e3280d35893

    authors: Spahn JD,Szefler SJ

    更新日期:2007-06-01 00:00:00

  • Diagnostic testing for SARS-CoV-2/COVID19.

    abstract:PURPOSE OF REVIEW:SARS-CoV-2 is the novel human coronavirus responsible for the COVID19 pandemic. Accurate detection of infection with SARS-CoV-2 is an essential component of efforts to treat individual patients and to contain spread of the virus in the community. The purpose of this review is to describe current diagn...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000972

    authors: Spearman P

    更新日期:2021-02-01 00:00:00

  • Update on child maltreatment.

    abstract:PURPOSE OF REVIEW:Recent literature regarding assessment, management and prevention of child maltreatment will be considered. Unexplained infant and child death will also be reviewed. RECENT FINDINGS:Controversies in the evaluation of unexpected infant death and inflicted traumatic brain injury are ongoing. Evidence c...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32809f9543

    authors: Newton AW,Vandeven AM

    更新日期:2007-04-01 00:00:00

  • Treatment of acute diarrhea in children.

    abstract::In the past decade a number of studies have systematically addressed the questions that existed regarding optimal ways to rehydrate and then refeed infants and children with diarrhea. Two very thorough papers are the highlights of the past year's publications in the topic of acute gastroenteritis in children. One summ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199710000-00010

    authors: Lifschitz CH

    更新日期:1997-10-01 00:00:00

  • The developmental origins of adult disease.

    abstract:PURPOSE OF REVIEW:Intrauterine growth restriction (IUGR) is associated with an increased propensity to develop adult-onset disease and is described by the developmental origins of adult disease hypothesis. Sequelae of fetal growth restriction include metabolic disease as well as nonmetabolic disorders. Although it has ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/mop.0b013e328326773b

    authors: Joss-Moore LA,Lane RH

    更新日期:2009-04-01 00:00:00

  • Laboratory evaluation of inflammatory bowel disease.

    abstract:PURPOSE OF REVIEW:Recognizing inflammatory bowel disease (IBD) is straightforward when alarm symptoms are present, such as bloody diarrhea and weight loss. When the presentation is subtle or atypical, physicians must determine which patients warrant evaluation for IBD. Appropriate use of noninvasive tests can help iden...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32830d3aaf

    authors: Wong A,Bass D

    更新日期:2008-10-01 00:00:00

  • Clinical care outcomes in abdominal wall defects.

    abstract:PURPOSE OF REVIEW:Abdominal wall defects comprising both gastroschisis and omphalocele remain a source of significant morbidity and mortality, despite the advances in neonatal and pediatric surgical care. Survival has improved over the past few decades, especially with parenteral nutrition and surgical repair. Yet, sti...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e3282ffdc1e

    authors: Islam S

    更新日期:2008-06-01 00:00:00

  • An update on lasers in children.

    abstract:PURPOSE OF REVIEW:A variety of new indications for laser treatment have been raised in the dermatology field recently. They offer significant opportunities to manage a large spectrum of conditions in the pediatric population. Therefore, it is necessary to know the current trends and limitations of their use for the tre...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32832e084f

    authors: Cordisco MR

    更新日期:2009-08-01 00:00:00

  • Advances in fetal cardiac intervention.

    abstract::Fetal cardiac intervention is in a rapid state of progress now. Attempts are being made to prevent fetal hydrops due to congenital heart defects, to recruit hypoplastic ventricles, to create a two-ventricle circulation after birth, and to remodel the fetal pulmonary vascular bed whose outlet is obstructed. Open heart ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/01.mop.0000141918.70698.3a

    authors: Huhta J,Quintero RA,Suh E,Bader R

    更新日期:2004-10-01 00:00:00

  • Atopic diseases of childhood.

    abstract::The atopic diseases of childhood consist of the triad of asthma, allergic rhinitis, and atopic dermatitis. All share a common pathogenesis, being mediated by IgE, and are frequently present together in the same individual and family. These disorders and their comorbidities comprise a large component of general pediatr...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200210000-00012

    authors: Stone KD

    更新日期:2002-10-01 00:00:00

  • Developmental care in the newborn intensive care unit.

    abstract::Developmental care is a framework that encompasses all care procedures as well as social and physical aspects in the newborn intensive care unit. Its goal is to support each individual infant to be as stable, well-organized, and competent as possible. The infant's physiologic and behavioral expression of current funct...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199804000-00004

    authors: Als H

    更新日期:1998-04-01 00:00:00

  • Room air or 100% oxygen for resuscitation of infants with perinatal depression.

    abstract:PURPOSE OF REVIEW:The International Liaison Committee on Resuscitation (ILCOR) recommends initiating neonatal resuscitation with concentrations of oxygen between 21 and 100%. This wide range of oxygen concentrations recommended for resuscitation highlights the lack of evidence supporting either 21 or 100% O2. The purpo...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32832925b8

    authors: Ten VS,Matsiukevich D

    更新日期:2009-04-01 00:00:00

  • Brain basis of childhood speech and language disorders: are we closer to clinically meaningful MRI markers?

    abstract:PURPOSE OF REVIEW:Developmental speech and language disorders are common, seen in one in 20 preschool children, in the absence of frank neurological deficits or intellectual impairment. They are a key reason parents seek help from paediatricians. Complex neurogenetic and environmental contributions underpin the disorde...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000420

    authors: Morgan A,Bonthrone A,Liégeois FJ

    更新日期:2016-12-01 00:00:00

  • Optimizing successful breastfeeding in the newborn.

    abstract:PURPOSE OF REVIEW:The purpose of this article is to present an overview of the state of breastfeeding in the United States and to examine recent evidence for strategies aimed at optimizing successful breastfeeding in the neonatal period. RECENT FINDINGS:Although rates of any and exclusive breastfeeding are rising, Ame...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32832b325a

    authors: Cramton R,Zain-Ul-Abideen M,Whalen B

    更新日期:2009-06-01 00:00:00

  • Obesity prevention and the primary care pediatrician's office.

    abstract:PURPOSE OF REVIEW:The obesity epidemic confronts the pediatrician every day in the office. Pediatricians should help curb the epidemic through prevention and the usual pediatric primary care tasks of screening, communication and anticipatory counseling. This review highlights findings from recent literature to guide of...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e328151c3e9

    authors: Perrin EM,Finkle JP,Benjamin JT

    更新日期:2007-06-01 00:00:00

  • Cerebral palsy.

    abstract::Cerebral palsy is caused by a static lesion to the cerebral motor cortex that is acquired before, at, or within 5 years of birth. Multiple causes for the condition exist and include cerebral anoxia, cerebral hemorrhage, infection, and genetic syndromes. Cerebral palsy is commonly classified according to the type of mo...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199702000-00017

    authors: Dabney KW,Lipton GE,Miller F

    更新日期:1997-02-01 00:00:00

  • Beyond dystrophin: current progress in the muscular dystrophies.

    abstract::Major advances in the genetic understanding of the limb-girdle (LGMD) and congenital (CMD) muscular dystrophies have led to a new, genetically based classification of these disorders. The definition of the complex of dystrophin-associated proteins on a biochemical and subsequently genetic level has greatly accelerated...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:

    authors: Bönnemann CG,McNally EM,Kunkel LM

    更新日期:1996-12-01 00:00:00

  • Asthma education in primary healthcare settings.

    abstract:PURPOSE OF REVIEW:Patient education is an essential component of asthma management. The current paradigm of asthma education has moved away from the 'information-transfer' programmes that characterized earlier approaches and that were shown to be largely ineffective, to approaches that promote self-management education...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32831551fa

    authors: Shah S,Roydhouse JK,Sawyer SM

    更新日期:2008-12-01 00:00:00