Abstract：
BACKGROUND:There is limited literature available on the phenotypic and mutation spectrum of Indian patients with Lysosomal storage disorders (LSD). OBJECTIVE:To elucidate the clinical, biochemical and mutation spectrum and to study the management options in Indian patients with lysosomal storage disorders. DESIGN:Descriptive study. SUBJECTS AND METHODS:All patients with lysosomal storage disorders diagnosed in the Medical Genetics department of a tertiary care institute in North India over a three year period from January 2008 to December 2010. RESULTS:Out of the total of 93 patients clinically suspected to have LSDs, 68 (mean age at presentation 4.5 years) were confirmed to have LSDs based on the laboratory/neuroimaging findings and documentation of deficient enzymatic activity in the peripheral blood (leucocytes or plasma) and/or skin fibroblasts. The commonest clinical features at presentation were growth retardation (failure to thrive 47.2% and short stature 17.6%), hepatosplenomegaly (41.2%) and neuroregression (33.8%). A history of consanguinity was present in 32.4% of the families. Prenatal diagnosis was done in a total of 6 affected families; two pregnancies were found to be affected (one each with Gaucher disease and Tay Sachs disease) and in both cases the parents opted for termination of pregnancy. Of the remaining four pregnancies which were found to be unaffected and therefore continued, three were confirmed to be normal on post-natal follow up. Enzyme replacement therapy (ERT) is being given for a total of 8 LSD patients and all of them are showing a gradual amelioration of their symptoms and an improvement in the quality of life. CONCLUSIONS:Lysosomal storage disorders constitute an important group of genetic metabolic disorders for many of which therapeutic options are now available.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Verma PK,Ranganath P,Dalal AB,Phadke SRdoi
10.1007/s13312-012-0192-4subject
Has Abstractpub_date
2012-10-01 00:00:00pages
799-804issue
10eissn
0019-6061issn
0974-7559pii
S097475591100585-1journal_volume
49pub_type
杂志文章abstract：OBJECTIVE:To evaluate the efficacy of pre-exchange transfusion albumin priming in neonates with non-hemolytic hyperbilirubinemia. DESIGN:Single center, randomized controlled trial. SETTING:Level III Neonatal unit. PARTICIPANTS:Fifty healthy term and late preterm neonates with non-hemolytic hyperbilirubinemia requiri...
journal_title：Indian pediatrics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s13312-015-0713-z
更新日期：2015-09-01 00:00:00
abstract：OBJECTIVE:To implement Mini-CEX, a Workplace-based assessment tool, for formative assessment of clinical skills of final year pediatric post-graduate residents. METHODS:All final-year postgraduate residents at the Department of Pediatrics of a public medical college in India underwent mini-CEX assessment by rotation a...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-017-1089-z
更新日期：2017-04-15 00:00:00
abstract：BACKGROUND:Inflammatory pseudo tumor, a rare non-neoplastic lesion, commonly presents as slow growing solid lesion in the lung, but many extra-pulmonary locations have been described. CASE CHARACTERISTICS:A 4-year-old girl who presented with respiratory distress due to massive pleural effusion. Computed tomography rev...
journal_title：Indian pediatrics
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更新日期：2018-04-15 00:00:00
abstract：OBJECTIVE:To determine the incidence, risk factors and outcome of acute kidney injury (AKI) in hospitalized children with nephrotic syndrome. METHODS:All consecutive hospitalized children (aged 1-14 years) with diagnosis of nephrotic syndrome between February 2016 and February 2017 were enrolled for the study. Childre...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2019-02-15 00:00:00
abstract：:Fifty newborns, 25 full term SFDs (small for date) and 25 full term AGAs (appropriate for gestational age) were taken up for comparative study of their behavior using BNBAS (Brazelton's neonatal behavior assessment scale). The study revealed that full term SFDs performed significantly poorly on all items under cluster...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
abstract：:Lead levels were measured by atomic absorption spectrophotometry in umbilical cord blood samples of 205 consecutively born neonates and venous blood in 62 of the mothers. The mean (+/- SD) cord blood lead level was 4.7 +/- 12.1 microg/dL. In the sub sample of 62 mother-baby pairs, the mean (+/- SD) cord blood lead lev...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2009-09-01 00:00:00
abstract：:The study aimed to explore the perception and knowledge-gain of undergraduate medical students during the Medical Council of India-mandated one month foundation course in August, 2019. A total of 129 consenting students who underwent the foundation course were enrolled and their feedback collected using an email-based...
journal_title：Indian pediatrics
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doi：
更新日期：2020-03-15 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：:This retrospective analysis documents the usefulness of fiberoptic bronchoscopy in finding the etiology of 56 cases of unresolved atelectasis in infancy, over a two year period (June 2005 to May 2007). Fiberoptic bronchoscopy identified the etiology leading to a revised diagnosis and change in management strategy in 3...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-010-0134-y
更新日期：2010-07-01 00:00:00
abstract：OBJECTIVES:To develop age and gender specific waist circumference references for urban Indian children aged 3 -16 years. DESIGN:Cross-sectional study. SETTING:Urban preschools and schools of Bangalore. PARTICIPANTS:9060 children (5172 boys and 3888 girls) in the age group of 3-16 years. METHODS:Weight, height, and ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-011-0126-6
更新日期：2011-10-01 00:00:00
abstract：:In an earlier study usefulness and validity of calf circumference in the identification of low birth weight (LBW) infants was reported. To evolve a simple indicator in identifying LBW in community, comparative evaluation of three simple measurements, i.e., circumferences of calf (CC), thigh (TC) and arm (AC) was done ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1992-04-01 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：:This study is a retrospective analysis of 670 cases of poisoning (including phenothiazine toxicity) admitted to this hospital in the past six years, accounting for 0.9% of all pediatric admissions. Nearly half (45%) of the cases were in the age group of 1-4 years. Medicines and chemicals were the commonest agents (53%...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：:In this cohort study, neurodevelopmental outcome of 20 of 24 surviving very low birth weight infants with sepsis followed up between 2008 and 2009 was compared with 20 control (uninfected infants). We found that plasma interleukin 6 and C reactive protein values were negatively correlated with mental developmental ind...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-013-0091-3
更新日期：2013-03-01 00:00:00
abstract：:We report a 12-year-old child with pseudohypoparathyroidism (PHP) whose mother had pseudopseudohypoparathyroidism. The child had low serum calcium, high phosphorous and high parathormone (PTH) levels. PHP occurs due to a defect in the guanine nucleotide binding protein (G protein). She also had hypothyroidism which is...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-012-0225-z
更新日期：2012-12-01 00:00:00
abstract：:Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX. We report Berardi...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2006-05-01 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：: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：:In Kumbakonam, Tamil Nadu State in India, 384 final-year female students attending the Government College for Women completed a questionnaire so the researcher could assess their knowledge of prenatal and childhood immunizations, breast feeding, weaning, oral rehydration solution (ORS), and feeding during diarrhea. 5...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:The distribution of supplementary nutrition (SN) to beneficiaries is an issue of debate in the Integrated Child Development Services (ICDS) program, discussed in almost all fora in which the scheme is on the agenda. ICDS program managers rightly decided in 1975 to make SN a program component, and it should remain so....
journal_title：Indian pediatrics
pub_type： 杂志文章,评审
doi：
更新日期：1998-03-01 00:00:00
abstract：OBJECTIVE:To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged between 2-5 years. Design: Setting:. STUDY DESIGN:Study of diagnostic accuracy. PARTICIPANTS:A consecutive sample of 500 children with suspected Autism (delay or regression of developmental milestones, dela...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2019-10-15 00:00:00
abstract：OBJECTIVE:To provide tribe- specific child mortality rates and health indicators from selected states in India. METHODS:We used Census 2011 data and Coale Demney methodology to estimate the infant mortality rate (IMR), under-five mortality rate (U5MR) and expectation of life at birth (LEB) for 123 tribes of selected s...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2021-01-15 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-017-1164-5
更新日期：2017-09-15 00:00:00
abstract：OBJECTIVE:To describe the utility of flexible fiberoptic bronchoscopy for the diagnosis and management in the neonatal ICU. METHODS:A retrospective, medical chart review was conducted in neonates who underwent flexible fiberoptic bronchoscopy over a period of 7 years. Besides demographic data and diagnostic findings, ...
journal_title：Indian pediatrics
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doi：
更新日期：2019-07-15 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s13312-017-1011-8
更新日期：2017-02-15 00:00:00
abstract：OBJECTIVE:(i) To assess the severity of Iodine Deficiency Disorders (DD) in Baroda and Dang Districts of Gujarat, using biochemical prevalence indicators of IDD; and (ii) To establish a biochemical baseline, in a sub-sample of the large population of Gujarat, that could be used to monitor the effectiveness of iodine re...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2001-03-01 00:00:00
abstract：:Seven hundred and fifty nine children in different sectors were covered in this study, which was undertaken by observational techniques, questionnaires and physical examination. All children belonged to the age group of 6-14 years. Nearly 30% children had migrated from neighbouring districts and states. Almost 88% wer...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1991-09-01 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
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2019-11-15 00:00:00
abstract：:Guillain-Barre syndrome is a post infectious polyradiculoneuropathy. It is equally prevalent in both the adult and the pediatric populations. Guillain-Barre syndrome following dengue fever is not a classically described entity and has not been reported in children. ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2004-09-01 00:00:00
