Abstract:
OBJECTIVE:To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. DESIGN:Descriptive study. SETTING:Tertiary-care medical genetics center. PATIENTS:Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical Rett syndrome were classified into two groups. Group I consisted of girls with Classical and atypical Rett syndrome on basis on the Revised Rett Syndrome diagnostic criteria, 2010. Group II included girls with neuroregression and postnatal microcephaly and other Rett like features but not fulfilling the above criteria. PROCEDURE:Sanger sequencing of coding regions and large deletional analysis of MECP2 gene. OUTCOME MEASURES:Identification of mutation in MECP2 gene. RESULTS:Mutation in MECP2 gene was identified in 74% (14/19) in group I and none (0/17) in group II. The mutation detection rate was 93% (13/14) in group I classical Rett syndrome girls (2 with large deletions identified with Multiplex ligation dependent probe amplification) and 20% (1/5) in group I atypical Rett syndrome girls. One novel MECP2 sequence variation was identified in group I classical Rett syndrome. CONCLUSIONS:The yield of the mutation detection in MECP2 is higher in classical Rett syndrome. In girls with some Rett like features, but not fulfilling revised Rett syndrome diagnostic criteria, mutation testing for MECP2 gene has a low yield.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Lallar M,Rai A,Srivastava P,Mandal K,Gupta N,Kabra M,Phadke SRsubject
Has Abstractpub_date
2018-06-15 00:00:00pages
474-477issue
6eissn
0019-6061issn
0974-7559pii
S097475591600115journal_volume
55pub_type
杂志文章abstract:OBJECTIVES:To evaluate whether zinc supplements prevent mortality and morbidity in breastfed low birth weight infants. METHODS:All randomized or qausi-randomized trials with individual or cluster allocation and using concurrent controls were included. Study population included LBW infants irrespective of gestational s...
journal_title:Indian pediatrics
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s13312-011-0043-8
更新日期:2011-02-01 00:00:00
abstract::We conducted this study to determine the fatty acid composition of breastmilk of Israeli women and compare it with baby milk substitutes. Samples of mature breast milk, from 29 lactating Israeli Jewish mothers were collected during feedings. Total milk lipids extracts were transmethylated and analyzed by using an impr...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-013-0277-8
更新日期:2013-11-08 00:00:00
abstract::In the newborn period, unconjugated hyperbilirubinemia (UHB) is common, multifactoral, and associated with a variety of physiologic and pathologic conditions. The most commonly identified pathologic cause leading to hyperbilirubinemia is hemolytic disease of the newborn. We report a five-days-old female infant with ne...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:To describe the clinical spectrum and factors associated with poor short-term outcomes in children with interstitial lung disease (ILD). DESIGN:Retrospective chart review SETTING:Pediatric Chest Clinic of a tertiary care hospital METHODOLOGY:We retrieved information regarding clinical course and laborato...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-013-0034-z
更新日期:2013-01-08 00:00:00
abstract::Hypocalcemia is a curable cause of myocardial dysfunction and clinical congestive cardiac failure, with only stray reports available in literature. We describe 15 infants presenting with severe left ventricular dysfunction, who were found to have hypocalcemia with or without hypomagnesemia. Vitamin D deficiency was id...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-010-0117-z
更新日期:2010-09-01 00:00:00
abstract::Pediatric statistics in a 50-year-old large hospital were analysed to find out any change in pediatric admission rate, morbidity and mortality and outcome of common disorders during the last four decades. Information was collected from four block years from each of the last four decades and compared. An increase of al...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1991-03-01 00:00:00
abstract::Neural tube defects (NTD) comprise of a group of congenital malformations that include spina bifida, anencephaly and encephalocele. Reports have implicated zinc deficiency as one of the causative factors of NTDs. We compared the serum zinc level of 23 newborns having neural tube defects with 35 healthy controls by spe...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2006-09-01 00:00:00
abstract::We report a rare instance of nine foreign bodies in a neonate that included a coin, safety pin, screw, cotton piece, polythene piece, and four glass pieces. Of these, six foreign bodies were removed by esophagoscopy and endoscopy, two glass pieces were passed in feces and one could not be removed. The child died 5 day...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2008-11-01 00:00:00
abstract:OBJECTIVE:To compare lipid parameters between diabetics and controls and to study association between metabolic control and lipid profile. METHODS:Lipid profile and HbA1c were measured (n=80, 39 boys) in diabetic children [age 10.7(3.4) y] and 54 controls, tests repeated after 1 year (in 45 diabetics). RESULTS:Diabet...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-016-0787-2
更新日期:2016-01-01 00:00:00
abstract::Informed consent is a communication process of providing the patient/parents/guardians with relevant information regarding the treatment and the diagnosis, so that they can make informed decisions. The process of informed consent in pediatric patients is not well understood. The amount of information to be disclosed i...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s13312-010-0173-4
更新日期:2010-12-01 00:00:00
abstract::Primary immunodeficiency disorders (PIDs) are a heterogeneous group of inherited disorders that affect different components of the immune system. There are more than 150 different disorders which have been described till date. Despite major advances in the molecular characterization of PIDs over the last 20 years, man...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s13312-013-0171-4
更新日期:2013-06-08 00:00:00
abstract::A random urine calcium/creatinine ratio (UCa/Cr) is of practical use in screening for hypercalciuria. However, due to worldwide variations, reference values for the pediatric population are not yet well established. Furthermore, no study has been conducted to establish normal UCa/Cr values in Turkish children. The obj...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2003-09-01 00:00:00
abstract::Sixty children with acute bacterial meningitis (ABM) were prospectively studied for their serum sodium values and cerebrospinal fluid (CSF), serum and urinary osmolality. The results have been compared with 20 age and nutritionally matched controls. Even though mean serum osmolality (283.2 +/- 13.84 mOsm/kg) and serum...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1993-10-01 00:00:00
abstract::Bartter syndrome is an inherited renal tubular disorder with hypokalemia, hypochloremic metabolic alkalosis, normal blood pressure with hyper-reninemia and increased urinary loss of sodium, potassium and chloride. We report an infant with neonatal Bartter syndrome, who improved with potassium supplements. ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2006-08-01 00:00:00
abstract::Many children report chronic abdominal pain that is severe and disruptive to normal lifestyle and schooling. Assessment and management depends on indentifying those with underlying organic disease, such as chronic infection, celiac disease or inflammatory bowel disease, but avoiding unnecessary invasive investigations...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:To assess efficacy and safety of High flow nasal cannula therapy (HFNC) as primary mode of treatment for children with respiratory distress. METHODS:Consecutive patients (1 mo-16 years) with respiratory distress were assessed for respiratory clinical score, COMFORT score and saturation to FiO2 (SF) ratio. R...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2021-01-15 00:00:00
abstract:: ...
journal_title:Indian pediatrics
pub_type: 评论,信件
doi:
更新日期:2018-11-15 00:00:00
abstract:OBJECTIVE:To study the clinical profile and outcome of langerhans cell histiocytosis in children upto 2 years of life. DESIGN:Retrospective analysis. METHODS:Medical records of Children upto 2 years of age with a diagnosis of langerhans cell histiocytosis (LCH) were analyzed. Their clinical pattern, treatment modalit...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Avian flu is affecting the poultry animals world over since first outbreak in 1997 in Hong Kong and has resulted in 92 human deaths and culling of more than 150 million poultry animals in Asia and Europe. The loss to the economy has also been enormous. 13 new countries, including India, reported occurrence of the dise...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:2006-04-01 00:00:00
abstract:BACKGROUND:Data on blood pressure recorded by oscillometric method is limited. OBJECTIVE:To develop simplified tables and charts of blood pressure recorded by oscillometric method in children. DESIGN:Cross-sectional. SETTING:Ballabhgarh, Haryana. PARTICIPANTS:Healthy school-children. MAIN OUTCOME MEASURES:Blood pr...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-015-0749-0
更新日期:2015-11-01 00:00:00
abstract::Five hundred ninety two children (6.0%) were diagnosed as persistent diarrhea (PD) out of a total attendance of 9795 cases in the Diarrhea Training and Treatment Unit (DTU) over a period of 1 year. Most of the cases were initially managed as outpatients on dietary advice and treatment of associated infections. Eighty ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1995-03-01 00:00:00
abstract::The prevalence of Attention deficit hyperactivity disorder was estimated in 500 adolescents using Conners' parents and teachers rating scales. Thirty six (7.2%) adolescents had positive scores on both the scales. The parents and teachers also completed a Diagnostic and Statistical Manual-IV based questionnaire which s...
journal_title:Indian pediatrics
pub_type: 信件
doi:10.1007/s13312-014-0350-y
更新日期:2014-02-01 00:00:00
abstract::In the present study, brainstorm auditory evoked responses (BAER) were recorded in 68 at risk neonates discharged from the neonatal ICU of Safdarjung Hospital. The high risk group of 35 neonates included 13 neonates with multiple (3-4) risk factors and 22 neonates with single risk factors, viz., prematurity (less than...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
abstract::This prospective study was conducted in a teaching hospital to identify and analyze medical errors in pediatric practice. All admitted children underwent surveillance for medical errors. Of 457 errors identified in 1286 children, medication errors were 313 (68.5%), those related to treatment procedures were 62 (13.6%)...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2008-07-01 00:00:00
abstract:BACKGROUND:High bilirubin level is toxic to developing brain and auditory system but the current debate surrounds the toxicity of bilirubin in healthy term infants. METHODS:Longitudinal observational study to find BERA abnormalities in term newborns with isolated hyperbilirubinemia of 20 mg/dL and more and to follow u...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-014-0346-7
更新日期:2014-02-01 00:00:00
abstract::Delayed diagnosis of undescended testes is a major problem. A retrospective review of 298 testes units was performed to assess the age at referral, age at operation, complications and final outcome. The mean age at referral was 57 months. Only 24% of cases were operated below 2 years. A similar pattern of delayed orch...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2008-06-01 00:00:00
abstract::The present study was undertaken to find out the best simple anthropometric parameter for identifying low birth weight babies (LBW). A total of 1000 newborn babies were subjected to anthropometry within 48 hours of life. Birth weight was significantly correlated (p less than 0.001) with thigh circumference (TC), mid-a...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1989-01-01 00:00:00
abstract:OBJECTIVE:To evaluate endothelial function and arterial mechanics in apparently healthy overweight adolescents. DESIGN:Analytical observational study. SETTING:Tertiary hospital. METHODS:40 asymptomatic, normotensive and non-smoking adolescents (11 to 18 years old) were evaluated. Of these 20 were overweight or obese...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2004-11-01 00:00:00
abstract::A prospective study was performed on 44 patients (newborn to one year old) with acute bacterial meningitis. Sonograms were obtained within 72 hours of diagnosis, and repeated on 7th, 14th or at an early date, if required. The spectrum of sonographic features of meningitis included normal scan (35.4%), echogenic sulci ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1994-11-01 00:00:00
abstract::A 5 year old boy and a 10 year old girl presented with acute onset of psychotic disorder, which occurred one week after an upper respiratory infection. MRI images of brain were consistent with the diagnosis of acute disseminated encephalomyelitis (ADEM) in both cases. ADEM is one of the differential diagnoses to be co...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2008-12-01 00:00:00