Abstract:
:The leukodystrophies are familial disorders with onset usually in infancy or childhood. The clinical features consist of motor dysfunction with varying degree of cognitive decline. Magnetic Resonance Imaging (MRI) has helped to identify and characterize these disorders. In some leukodystrophies, biochemical enzymatic and genetic defects have been identified. The commonest leukodystrophy seen in India is Megalencephalic Leukodystrophy with subcortical cysts. The essential features consist of large head, mild pyramidal and cerebellar dysfunction, and occasional seizures. MRI studies show extensive white matter changes with temporal cysts. It is common in the Agarwal community in India. An identical mutation in exon 2 of the MLC 1 gene has been identified in this community suggesting a founder effect.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Singhal BSdoi
10.1007/BF02724013keywords:
subject
Has Abstractpub_date
2005-04-01 00:00:00pages
315-8issue
4eissn
0019-5456issn
0973-7693journal_volume
72pub_type
杂志文章,评审abstract:OBJECTIVE:To find out the incidence and natural history of IgMN in India. METHODS:Renal biopsies of children ≤12 y age of last 6 y were retrospectively evaluated. Their clinical and biochemical presentation were correlated. Patients with systemic diseases/disorders were excluded from the study. RESULTS:Immunoglobulin...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-012-0693-0
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVE:To demonstrate the effectiveness of the hour-specific serum bilirubin nomogram, described by Bhutani et al, in predicting significant hyperbilirubinemia in term Turkish newborns. METHODS:A total of 217 healthy term newborns without signs of hemolysis were enrolled. Serum bilirubin levels were obtained at dis...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-008-0248-6
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVE:To assess Ankle-Foot-Orthosis (AFO) requirement and ambulation in Duchenne Muscular Dystrophy (DMD) patients seen over a period of 4 y at a multi-disciplinary Neuromuscular disorders clinic (NMD). METHODS:A study was conducted in university quaternary research hospital with DMD patients confirmed by MLPA (mu...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-016-2251-7
更新日期:2017-03-01 00:00:00
abstract::Secondary sex characteristics were evaluated in thalassemic children (41, boys and 30 girls), who were on regular transfusion therapy and were above 11 years of age. The results of this study indicate that the development of secondary sex characteristics in thalassemic children is markedly delayed as compared to their...
journal_title:Indian journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF02725511
更新日期:1997-11-01 00:00:00
abstract::Adrenal hemorrhage has many etiologies including bleeding diathesis. A 10-day-old female baby was admitted to our clinic with the complaint of abdominal distention. Hemorrhage was determined on the right adrenal gland with abdominal ultrasonography and computerized tomography. Laboratory investigations showed PT 44 se...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723786
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:To assess the benefits of nutrition supplementation in children living with HIV (CLHIV). METHODS:A prospective observational study was carried out at antiretroviral therapy (ART)/pediatric centre of excellence (PCOE), Niloufer hospital for a period of one year in CLHIV (N = 164) aged 1 to 18 y referred to AR...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-015-1873-5
更新日期:2016-03-01 00:00:00
abstract::The Caudal dysplasia syndrome (CDS) and the femoral hypoplasia-unusual facies syndrome (FHUFS) have been reported to be more frequent among infants of diabetic mothers (IDMs). Infact, uncontrolled maternal diabetes is the most common cause of both the syndromes. Till now, there is no case report to suggest absent radi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0650-3
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVES:To evaluate the efficacy and safety of nitazoxanide in intestinal parasitic infections in children. METHODS:Four databases, PubMed, EMBASE, Web of Science and Cochrane Library, have been systematically searched from the inception of each database up to March 1st, 2019. The enrolled studies were limited to r...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,meta分析
doi:10.1007/s12098-019-03098-w
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:The present study aimed to estimate the prevalence of acute diarrhea and its correlates in remote rural villages of south Pakistan. METHODS:The authors selected 1878 children less than 3 years of age through stratified random sampling from 64 villages having the number of children enrolled proportionate to t...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02725583
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVES:To retrospectively assess growth of children with congenital adrenal hyperplasia (CAH) with special reference to puberty and to assess longitudinal growth and final height of subset of children with CAH. METHODS:A retrospective analysis of 30 children (14 boys) with classic CAH (11 salt wasters, 19 simple v...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2753-6
更新日期:2019-02-01 00:00:00
abstract::Death is a natural process, but the definition of death varies depending on the cultural and religious background, all over the world. The historical development of the concept and the current criteria in the determination of brain death must be well understood. Termination of life support measures in a brain dead chi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02730887
更新日期:1998-07-01 00:00:00
abstract::The Integrated Child Development Services (ICDS) scheme is the largest program for promotion of maternal and child health and nutrition not only in India but in the whole world. The scheme was launched in 1975 in pursuance of the National Policy for Children. The scheme has expanded in the last twenty-seven years form...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722688
更新日期:2002-07-01 00:00:00
abstract:OBJECTIVES:To study the magnitude and determinants of growth faltering among 0-6 y children in adopted villages of medical college. METHODS:A total 305 children of less than 6 y were followed monthly for 1 y to assess the growth faltering. At each visit, the mothers/caretakers of children were interviewed and informat...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0582-y
更新日期:2012-03-01 00:00:00
abstract::The packing and composition of ORS has undergone a change since its introduction. In India, some companies are manufacturing smaller pouches (4.2 g) to be dissolved in 200 ml of water. Therefore, out of confusion some prescribers routinely advise the patients to dissolve the standard formulation ORS pouch (21 g) in a ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0095-0
更新日期:2010-06-01 00:00:00
abstract::Amoebiasis, a common parasitic infection in the tropics is most commonly associated with solitary liver abscess. Multiple hepatic, splenic and renal abscesses are a very rare presentation of extraintestinal amoebiasis in children. The authors report a 6-y-old girl who presented with a febrile illness, hepatosplenomega...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0548-0
更新日期:2012-04-01 00:00:00
abstract::A bleeding child is a cause of great concern and often, panic, for parents and pediatricians alike. Causes of bleeding could be trivial or secondary to an underlying bleeding disorder or a potentially serious systemic illness. Based on etiology, they can be categorized into disorders affecting platelets or the coagula...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-012-0918-2
更新日期:2013-05-01 00:00:00
abstract::Approximately 25,000 children develop multidrug-resistant (MDR) tuberculosis (TB) each year, but few of them are diagnosed and appropriately treated for MDR-TB. New diagnostic tools have improved our ability to diagnose children with bacteriologically confirmed TB earlier. However, the majority of childhood TB cases a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-018-02846-8
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE:To evaluate the presentation, treatment and outcome of testicular tumors in undescended testes (UDT) in boys below 5 y of age. METHODS:Case records of boys below 5 y of age, diagnosed to have germ cell tumors (GCT) in the UDT were reviewed. RESULTS:Seven children in the age range of 05-54 mo (mean 26 mo) we...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1667-1
更新日期:2015-06-01 00:00:00
abstract::Hepatitis B has attracted a lot of attention in recent times. It has been suggested that it is a widely prevalent disease and an important cause of morbidity and mortality in our country. A dispassionate analysis of available data suggests that the prevalence of disease may be much less than believed hitherto, and the...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723142
更新日期:2003-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of low dose vasopressin on the hemodynamics of neonates with persistent pulmonary hypertension and catecholamine refractory shock. METHODS:This retrospective study was conducted in a level III NICU of a tertiary care teaching hospital, south India. Eighteen neonates with hypoxemic resp...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-020-03519-1
更新日期:2020-10-08 00:00:00
abstract::Severely malnourished children (26), weight for age 55.27 +/- 3.17, were identified in a colony of predominantly Muslim urban slum dwellers of low economic status. An equal number of normally nourished children matched for age, sex and per capita income were identified. A strong relation was found between nutritional ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02751136
更新日期:1991-03-01 00:00:00
abstract:OBJECTIVE:To understand the causes of child deaths in order to implement appropriate child survival interventions in the country. We present a systematic review of studies reporting causes of child, infant, and neonatal deaths from India for 1985 to 2008. METHODS:PubMed, EMBASE, Google Scholar, and WHO regional databa...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-010-0246-3
更新日期:2010-11-01 00:00:00
abstract::India currently has an infant mortality rate (IMR) of 73 and aims to reach 60 per 1000 live births by 2000 A.D. The "at risk" approach which has been traditionally used for Maternal and Child Health services could help to reduce costs. The main objective of the study was to identity socio-demographic "risk factors" at...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02859456
更新日期:2000-06-01 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::Glanzmann's thrombasthenia (GT) is an uncommon cause of bleeding in children. We diagnosed two siblings as having GT on the basis of flow cytometric studies. Both had cutaneous bleedings and epistaxis since early childhood. Hematological investigations revealed prolonged bleeding time and a normal platelet count. Both...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02723255
更新日期:2001-06-01 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 compare the insertion characteristics, utilization profile, life span and the complication rates of Central lines (CL) and Peripherally inserted central lines (PICL). METHODS:A prospective study of all CL or PICL insertions during January 2007 to September 2007 in the Neonatal Surgical Intensive Care Unit...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0291-y
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:To evaluate clinical, etiological and EEG profile of neonatal seizures. METHODS:In all the neonates enrolled in the study baseline information recorded was sex, gestational age, weight, ponderal index etc. Clinical profile of seizure episode included age at onset of seizure, type and duration of seizure, ass...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-007-0023-0
更新日期:2007-01-01 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:OBJECTIVE:To develop a height and weight based equation to estimate total body water (TBW) in Sri Lankan children. METHODS:Cross sectional descriptive study done involving 5-15 year old healthy children. Height and weight were measured. TBW was assessed using isotope dilution method (D(2)O) and fat free mass (FFM) cal...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0333-5
更新日期:2010-02-01 00:00:00