Abstract:
:Mutations in the gamma-aminobutyric acid type A receptor (GABRG2) gene have been associated with generalized epilepsy, childhood absence epilepsy and febrile seizures. In the present study the authors investigated the association of polymorphism of the GABRG2 with simple febrile seizures (FS) in Egyptian children. Polymorphism at GABRG2 (SNP211037, Asn196Asn), on chromosome 5q33 were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 100 Egyptian children with simple FS, and 120 healthy controls. The frequency of CC genotype of GABRG2 gene was significantly higher in children with simple FS compared to healthy children (p ≤ 0.0001). The C allele of GABRG2 was associated with increased risk for developing simple FS (OR: 2.15. 95% CI, 1.4-3.2. p ≤ 0.0001). The present findings suggested that the GABRG2 (SNP211037)-C allele could be a suitable genetic marker for prediction of susceptibility to simple FS in Egyptian children.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Salam SM,Rahman HM,Karam RAdoi
10.1007/s12098-011-0564-0subject
Has Abstractpub_date
2012-11-01 00:00:00pages
1514-6issue
11eissn
0019-5456issn
0973-7693journal_volume
79pub_type
杂志文章abstract::The terms trend and cerebral palsy are defined emphazing the non-diagnostic nature of the cerebral palsy label. Criteria necessary for valid estimation of trends include constant methods of estimating population based numerators and denominators over a number of years, which render them hard to obtain, particularly in...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723024
更新日期:2001-05-01 00:00:00
abstract:OBJECTIVE:A) To study the frequency of perceived breast milk insufficiency in mothers of hospitalized neonates. b) To assess subsequent duration of exclusive breast feeding and growth (upto three months) in neonates whose mothers perceived breast milk insufficiency. METHODS:Neonates whose mothers were willing to breas...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0204-0
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVES:To examine the prevalence of school bullying and to investigate the behavioral, emotional, socio-economic and demographic correlates of bullying behaviors among Indian school going adolescents. METHODS:Self-reports on bullying involvement were collected from 9th to 10th class students (N = 209; Mean = 14.82...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1378-7
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:To assess the efficacy of arginine vasopressin (AVP) as a rescue therapy in children with catecholamine refractory vasodilatory shock and its effect on various hemodynamic, clinical, and laboratory variables. METHODS:This prospective hospital based study was conducted from January 2008 through July 2008 at a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0557-z
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVES:To evaluate changes in annual blood transfusion requirements and complications after splenectomy in patients with β-thalassemia. METHODS:Forty post-splenectomy β-thalassemic patients aged 8-33 y, receiving regular blood transfusions and chelation therapy were included and non transfusion dependant patients ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-015-1792-5
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVE:The authors attempt to determine whether typical clinical and laboratory manifestations of acute rheumatic fever (ARF) are in accordance to what has been traditionally described and how useful the Jones criteria are for diagnosis. METHODS:Data from 81 cases of ARF were retrospectively collected. INCLUSION C...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-007-0001-6
更新日期:2007-02-01 00:00:00
abstract::We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02898455
更新日期:2006-08-01 00:00:00
abstract::The authors report a case of Kawasaki disease that manifested in a newborn and presented at the age of 6 weeks of age with coronary artery aneurysms. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02724106
更新日期:2004-04-01 00:00:00
abstract:OBJECTIVE:To report our experience before and after implementation of pediatric rapid response team (RRT) in pediatric wards of a tertiary care hospital in Pakistan. METHODS:An audit of RRT activity from December 2007 to August 2008 was conducted and reviewed patient diagnoses at the time of call placement, interventi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0032-2
更新日期:2010-03-01 00:00:00
abstract::Deficiencies in intake of essential vitamins and minerals (commonly referred to as micronutrients) that are essential for efficient energy metabolism and other functions of the human body (commonly termed as micronutrients) are severe and widespread in many parts of the world. They cause an immeasurable burden on indi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02828115
更新日期:2004-11-01 00:00:00
abstract::Ocular manifestations that occur directly or indirectly as result of a pathologic process that involves other parts of the body, in a pediatric population, will be discussed here. While a myriad number of systemic conditions have ocular manifestations, its importance cannot be undermined because it has implications fo...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2623-2
更新日期:2018-03-01 00:00:00
abstract::Primary vesicoureteric reflux (VUR) is the most common inherited structural urinary tract disorder, conforming closely to autosomal dominant transmission. A pair of monozygotic siblings is described exhibiting a remarkably parallel clinical course. VUR grade II was diagnosed in girl A during urinary tract infection at...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-008-0061-2
更新日期:2008-03-01 00:00:00
abstract::Systemic infection in the newborn is the commonest cause of neonatal mortality. Data from National Neonatal Perinatal Database 2000 suggest that Klebsiella pneumoniae and Staphylococcus aureus are the commonest causes of neonatal sepsis in India. Two forms of clinical presentations have been identified. Early onset se...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02722932
更新日期:2001-12-01 00:00:00
abstract:OBJECTIVE:To assess the treatment and outcome of children with acute myeloid leukemia. The Primary objectives were to assess remission rates, treatment related toxicity and disease free survival. Secondary objective was to assess prognostic factors associated with poor outcome. METHODS:A retrospective analysis of all ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0300-1
更新日期:2011-10-01 00:00:00
abstract::Caroli's disease is a rare congenital disorder and occasional cases have been reported from Japan and other parts of Asia. It comprises of congenital dilation of the lower (segmental) intrahepatic bile duct. Cholangitis liver, cirrhosis and cholangiocarcinoma are its potential complication. A case of caroli's disease ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02825490
更新日期:2006-03-01 00:00:00
abstract::The advent of AIDS has raised a concern regarding transfusion transmitted diseases. Blood transfusion is safer than ever before through continued improvements in safe donor recruitment, screening of donors, testing of donated blood and appropriate clinical use of blood. The risk of residual infections is further reduc...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02722029
更新日期:2001-02-01 00:00:00
abstract::Vaccines have been successful in reducing the mortality and morbidity, but most of them are delivered by intramuscular or intravenous route. They are associated with pain to the baby and bring lot of anxiety for the parents. There has been a marked increase in the number of injections required in first two years of li...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-017-2377-2
更新日期:2018-02-01 00:00:00
abstract::Staff of the neonatal intensive care unit (NICU) at the L.T.M.G. Hospital in Bombay, India exclusively feeds all infants breast milk. A lactation management nurse oversees its formal milk banking system by encouraging health mothers of NICU infants to donate milk and by assessing daily milk demand. Breast milk dono...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02727917
更新日期:1990-05-01 00:00:00
abstract::Surgical treatment for congenital heart disease has become available over the last five decades. Palliative procedures have been designed to improve physiologic abnormalities, for example systemic artery (or venous) to pulmonary artery shunts of various types to increase the pulmonary blood flow, pulmonary artery cons...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02820180
更新日期:1991-09-01 00:00:00
abstract::Antimicrobial resistance is a key factor leading to emerging/ re-emerging infections. Rational antimicrobial therapy or antimicrobial stewardship is one of the important interventions to prevent emergence of resistance. Choosing correct empiric therapy is crucial not only to prevent antimicrobial resistance but also t...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-019-03144-7
更新日期:2020-11-01 00:00:00
abstract:OBJECTIVE:To assess the prevalence of dyslipidemia and lipodystrophy in Indian children receiving non-nucleoside reverse transcriptase inhibitor (NNRTI) based highly active antiretroviral therapy (HAART) and to determine the associated risk factors for the same. METHODS:The present cross-sectional study was conducted ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-015-1859-3
更新日期:2016-03-01 00:00:00
abstract:OBJECTIVES:To analyze the results after surgery for spinal cord lipomas. METHODS:The authors report their results of management of 63 non consecutive random children with spinal cord lipomas treated over a period from 2001 to 2005, at the All India Institute of Medical Sciences, New Delhi, India, a tertiary care neuro...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-007-0060-8
更新日期:2007-04-01 00:00:00
abstract:OBJECTIVE:To review clinical features and outcome of children with severe forms of dengue hemorrhagic fever (DHF) presenting to a pediatric intensive care unit (PICU) with particular focus on clinical presentation and outcome. METHODS:Retrospective chart review of patients admitted to the Pediatric Intensive Care Unit...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02859281
更新日期:2006-10-01 00:00:00
abstract::The clinical disappearance of the murmur of rheumatic mitral regurgitation after period of time has been documented by many researchers. However no studies have related the disappearance of the murmur with the functional or anatomical state of the mitral valve. This study was done to elucidate the mitral valve status ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02825126
更新日期:1995-11-01 00:00:00
abstract:OBJECTIVES:To screen patients with frequently relapsing nephrotic syndrome (FRNS) for the presence of ambulatory hypertension and left ventricular hypertrophy. METHODS:Following ethical and parental approvals, consecutive patients with FRNS of ≥2 y duration were enrolled. Those with estimated glomerular filtration rat...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-016-2207-y
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the concerns the parents have with the development of their children and related conditions and investigate how often these concerns are addressed at all levels of the healthcare system. Determining parental perceptions of these issues and highlighting missed opportunities is valuable for improvin...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-020-03302-2
更新日期:2021-01-01 00:00:00
abstract::Disorders of sexual development (DSD) are a complex group of disorders to manage, not only because the diagnosis is difficult, but also because it involves many factors related to the psychosexual well being, the social stigma associated with the disorder, confusion and reluctance on the part of medical professionals ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-013-1168-7
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To compare the incidence of hyponatremia during the first 48 h in hospitalized children receiving normal saline vs. N/2 saline as maintenance intravenous fluid. METHODS:This open label, randomized controlled trial to compare the incidence of hyponatremia in hospitalized children receiving normal saline (0.9%...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s12098-019-03011-5
更新日期:2019-11-01 00:00:00
abstract::Respiratory disease in childhood is common but not all children presenting to the paediatrician have an underlying organic cause for their symptoms. This article reviews the spectrum of non-organic somatization disorders that might be encountered and advises about the diagnosis and treatment of habit cough, laryngeal ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02726188
更新日期:2000-02-01 00:00:00
abstract::The authors report a 14-y-old boy with insulin resistance, acanthosis nigricans, acral hypertrophy and muscle cramps. While there was a dramatic response of the muscle cramps to phenytoin therapy, some other features of metabolic syndrome did not respond to phenytoin therapy alone. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1503-7
更新日期:2014-12-01 00:00:00