Tuberous sclerosis complex: disease modifiers and treatments.

Abstract:

PURPOSE OF REVIEW:Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder involving benign growths in multiple organ systems of affected patients. Variable phenotypes from mild to severe have been reported for related as well as unrelated patients affected by TSC. The two causative genes, TSC1 and TSC2, which code for hamartin and tuberin respectively, play central roles in regulating cell survival and proliferation signaling pathways. The severity of disease phenotypes of TSC patients is influenced by the activities of genes both up and down-stream in the associated pathways. RECENT FINDINGS:The high-expressing12CA repeat variant of the IFNG gene was suggested to contribute lower risk for kidney angiomyolipomas in patients with TSC2 gene mutations. Genetic modifiers for TSC have been localized on chromosomes 3 and 5 of the rat genome. We performed association studies linking the c.68C allele of the 5-hydroxytryptamine receptor 2C gene to lower seizure risk in TSC-affected individuals. SUMMARY:Genetic and epigenetic factors affecting the activity of each and every interacting partner of the tuberin-hamartin complex could potentially alter the disease presentation. Identifying functional polymorphic variants of interacting partners affecting TSC gene functions will delineate the mechanisms leading to TSC disease severity, ultimately resulting in treatment strategies.

journal_name

Curr Opin Pediatr

authors

Au KS,Ward CH,Northrup H

doi

10.1097/MOP.0b013e328318c529

subject

Has Abstract

pub_date

2008-12-01 00:00:00

pages

628-33

issue

6

eissn

1040-8703

issn

1531-698X

pii

00008480-200812000-00003

journal_volume

20

pub_type

杂志文章,评审
  • 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

  • An update of N-acetylcysteine treatment for acute acetaminophen toxicity in children.

    abstract:PURPOSE OF REVIEW:Acetaminophen poisoning accounts for a disproportionate percentage of all toxic ingestions, and can be life-threatening. This article reviews the mechanism and presentation of acetaminophen toxicity, as well as its treatment, including current thinking and treatment recommendations. RECENT FINDINGS:N...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/01.mop.0000152622.05168.9e

    authors: Marzullo L

    更新日期:2005-04-01 00:00:00

  • Recent advances regarding attention deficit-hyperactivity disorder in adolescence.

    abstract::This paper reviews recent studies of attention deficit-hyperactivity disorder, focusing on research with implications for adolescents. Only 10 of the 31 recent investigations discussed employed an exclusively adolescent sample, necessitating considerable extrapolation from studies of children or adults or mixed sample...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199608000-00003

    authors: Phillips S,Soffer SL

    更新日期:1996-08-01 00:00:00

  • Disruptive behavior disorders.

    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

    authors: Harden PW,Zoccolillo M

    更新日期:1997-08-01 00:00:00

  • Re-evaluation of antibiotic treatment of streptococcal pharyngitis.

    abstract:PURPOSE OF REVIEW:Recently, recommendations from the American Heart Association regarding treatment of streptococcal tonsillo-pharyngitis were revised. This review provides the background for changes that were made in comparison with the group's 1995 recommendations. Recent papers on other issues relating to group A St...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32833502e7

    authors: Baltimore RS

    更新日期:2010-02-01 00:00:00

  • Current challenges in the diagnosis and management of fever.

    abstract:PURPOSE OF REVIEW:We review recommendations from recent publications on the management of fever with antipyretics, the classification and diagnosis of fevers of unknown origin (FUO), and the evaluation of fever in infants under 90 days of age. RECENT FINDINGS:Anxiety about fever persists in the population, while the t...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32835333e3

    authors: Sherman JM,Sood SK

    更新日期:2012-06-01 00:00:00

  • Pediatric osteogenic sarcoma.

    abstract:PURPOSE OF REVIEW:Osteogenic sarcoma, also known as osteosarcoma, is a primary malignancy of the bone in which spindle cells produce osteoid. Although rare in the general population, these tumors are the most common primary malignancies of bone and the fifth most common primary malignancy of adolescence. This paper aim...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e328334581f

    authors: Kim HJ,Chalmers PN,Morris CD

    更新日期:2010-02-01 00:00:00

  • Stachybotrys.

    abstract::Stachybotrys is a toxin-producing fungus that grows indoors when both water and cellulose are available. Epidemiologic evidence has demonstrated an association between acute pulmonary hemorrhage in infants and exposure to Stachybotrys and other fungi in water-damaged home environments. In recent years, advances in und...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200302000-00017

    authors: Etzel RA

    更新日期:2003-02-01 00:00:00

  • Evaluation of hypertension by the general pediatrician.

    abstract:PURPOSE OF REVIEW:To summarize the recommended work-up in a child who presents with elevated blood pressure as well as innovative evaluation techniques under development. RECENT FINDINGS:'The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents' contains several ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e328013f647

    authors: Nguyen M,Mitsnefes M

    更新日期:2007-04-01 00:00:00

  • Management of acute bacterial rhinosinusitis.

    abstract::Acute bacterial rhinosinusitis is an infection of the nasal epithelium and paranasal sinus mucosa, usually caused in children by Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis, and, less frequently, group A Streptococcus species. The clinical diagnosis is based on daytime cough that may be wor...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200202000-00015

    authors: Conrad DA,Jenson HB

    更新日期:2002-02-01 00:00:00

  • Evaluation of the infant with an abnormal skull shape.

    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

    authors: Cunningham ML,Heike CL

    更新日期:2007-12-01 00:00:00

  • Urinary tract infections in infants and children: a comprehensive overview.

    abstract:PURPOSE OF REVIEW:Urinary tract infections are the most common serious bacterial infections in infants and young children. This review focuses on new additions to the literature for the period August 22, 2002, to August 21, 2003. RECENT FINDINGS:There is still considerable interest in determining which test is best to...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200402000-00016

    authors: Wald E

    更新日期:2004-02-01 00:00:00

  • Encopresis.

    abstract::A careful history and physical examination will help to differentiate between encopresis with or without constipation and fecal incontinence caused by anatomic or organic disease. Most children with encopresis with or without functional constipation require no or minimal laboratory workup. Successful treatment of enco...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200210000-00002

    authors: Loening-Baucke V

    更新日期:2002-10-01 00:00:00

  • Management of anorexia nervosa with exercise and selective serotonergic reuptake inhibitors.

    abstract::Treatment of patients with anorexia nervosa is a topic that continues to spark debate. Two particular areas of controversy include the role of exercise and the use of selective serotonergic reuptake inhibitors (SSRI). Few randomized controlled trials have addressed these two issues. The psychological impact of exercis...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200306000-00022

    authors: Rosenblum J,Forman SF

    更新日期:2003-06-01 00:00:00

  • Rash diagnostics: an update on the diagnosis of allergic rashes.

    abstract:PURPOSE OF REVIEW:The purpose of this review is to summarize recent research regarding the diagnosis of allergic rashes and to suggest future directions for the promotion of accurate diagnosis and endotype specification. RECENT FINDINGS:Multiple cohort studies demonstrate that with appropriate clinical evaluation, dru...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000489

    authors: Happel CS

    更新日期:2017-06-01 00:00:00

  • Pediatric anesthesia and sedation.

    abstract::Advances in pediatric anesthesia can contribute to improved care of children in other environments. As an example, drugs and dosages established in preoperative sedation of children provide a base for their application in sedation and pain relief of children undergoing painful procedures in the emergency unit, oncolog...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199306000-00011

    authors: Broennle AM,Cohen DE

    更新日期:1993-06-01 00:00:00

  • Firm foundations: strength-based approaches to adolescent chronic disease.

    abstract:PURPOSE OF REVIEW:Chronic disease management is an increasingly important aspect of caring for adolescents. Strength-based approaches hold tremendous promise in the face of current challenges. Recent clinical innovations and research findings that provide evidence of the efficacy of strength-based approaches and repres...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32833a468e

    authors: Chung RJ,Burke PJ,Goodman E

    更新日期:2010-08-01 00:00:00

  • Complement deficiency and autoimmunity.

    abstract::Complete deficiency of one of the early components (C1, C4, or C2) of the classical pathway of the complement cascade is one of the strongest genetic risk factors for systemic lupus erythematosus that has been recognized. The lupus that occurs in complement-deficient individuals typically presents in early childhood. ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-199810060-00011

    authors: Sullivan KE

    更新日期:1998-12-01 00:00:00

  • Developmental outcome of neonatal intensive care: what questions are we asking?

    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

    authors: Allen MC

    更新日期:2000-04-01 00:00:00

  • Osteogenesis imperfecta: questions and answers.

    abstract:PURPOSE OF REVIEW:Considerable attention has recently been focused on the pathogenesis, diagnosis and treatment of osteogenesis imperfecta. Two new genes have been defined in patients with recessive severe or lethal osteogenesis imperfecta types. Diagnostic concerns involve testing procedures, either skin biopsies or D...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e328332c68f

    authors: Shapiro JR,Sponsellor PD

    更新日期:2009-12-01 00:00:00

  • Refeeding in anorexia nervosa: increased safety and efficiency through understanding the pathophysiology of protein calorie malnutrition.

    abstract:PURPOSE OF REVIEW:This paper reviews recent publications about the physiology associated with adaptation to malnutrition and refeeding (including the refeeding syndrome) and clinical outcomes of refeeding paradigms. RECENT FINDINGS:A number of recent reviews and original publications have highlighted important differe...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e3283487591

    authors: Kohn MR,Madden S,Clarke SD

    更新日期:2011-08-01 00:00:00

  • The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.

    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

    authors: Sherr EH

    更新日期:2003-12-01 00:00:00

  • The airway microbiome in cystic fibrosis and implications for treatment.

    abstract:PURPOSE OF REVIEW:Lung disease in cystic fibrosis (CF) results from chronic airway infection and inflammation leading to progressive bronchiectasis and respiratory failure. Bacterial pathogens, including Pseudomonas aeruginosa, Staphylococcus aureus, and Burkholderia cepacia, are known contributors. Recent studies usin...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0b013e32834604f2

    authors: Zemanick ET,Sagel SD,Harris JK

    更新日期:2011-06-01 00:00:00

  • The management of osteoid osteoma: updates and controversies.

    abstract:PURPOSE OF REVIEW:Osteoid osteoma is a benign painful bone tumor usually found in the lower extremities of children and young adults. It has been traditionally treated by surgical excision. Despite the small size of the lesion, the operative procedure for its removal can be extensive, but still sometimes remains incomp...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/01.mop.0000193277.47119.15

    authors: Ghanem I

    更新日期:2006-02-01 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

  • 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

  • Safety of inhaled corticosteroids in children with asthma.

    abstract::Inhaled corticosteroids (ICS) have become the mainstay of therapy in chronic childhood asthma. Despite the long history and the documented efficacy of these drugs in controlling asthma, concerns still abound regarding the safety of these drugs in children, most specifically related to the potential for adrenal suppres...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/00008480-200112000-00005

    authors: Bazzy-Asaad A

    更新日期:2001-12-01 00:00:00

  • Extracorporeal membrane oxygenation in the pediatric population - who should go on, and who should not.

    abstract:PURPOSE OF REVIEW:The role of extracorporeal membrane oxygenation (ECMO), a method of providing cardiorespiratory support in instances of cardiac or respiratory failure, in neonates and children continues to expand and evolve. This review details the current landscape of ECMO as it applies to neonates and children. RE...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/MOP.0000000000000904

    authors: Etchill EW,Dante SA,Garcia AV

    更新日期:2020-06-01 00:00:00

  • Sport-related concussion in the young athlete.

    abstract:PURPOSE OF REVIEW:The purpose of this review is to present an overview of sport-related concussion in the young athlete and review recent publications of clinical and scientific importance. RECENT FINDINGS:Recent findings show that young athletes are more susceptible to concussions than older athletes and more likely ...

    journal_title:Current opinion in pediatrics

    pub_type: 杂志文章,评审

    doi:10.1097/01.mop.0000236385.26284.ec

    authors: Buzzini SR,Guskiewicz KM

    更新日期:2006-08-01 00:00:00

  • Case report: atypical Lemierre's disease secondary to Porphyromonas asaccharolytica.

    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

    authors: Sharma D,Rouphael N

    更新日期:2009-06-01 00:00:00