Abstract:
BACKGROUND:Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis. CASE CHARACTERISTICS:2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III. OBSERVATION:A pathogenic mutation in PYGL gene suggested GSD-VI. MESSAGE:GSD-VI should be a differential diagnosis whenever GSD-III is suspected.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Jagadisan B,Ranganath Pdoi
10.1007/s13312-017-1174-3subject
Has Abstractpub_date
2017-09-15 00:00:00pages
775-776issue
9eissn
0019-6061issn
0974-7559journal_volume
54pub_type
杂志文章abstract::This study was conducted in 2006 to assess the current iodine nutriure of the population in Haryana by assessing the urinary iodine excretion levels amongst the school age children between 6-12 years. Altogether 3,019 urine samples were collected from all the 19 districts in Haryana. The urinary iodine was analyzed by...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To assess the levels of free oxygen radicals in acute renal failure and their predictive value in clinical outcome. DESIGN:Prospective. SETTING:Intensive care unit. METHODS:Study was conducted in 50 children (25 with acute renal failure and 25 age and sex matched controls). Blood urea, serum creatinine, se...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2000-02-01 00:00:00
abstract::Treatment of typhoid fever with furazolidone produces a high cure rate. This is a clinical curiosity, as furazolidone is described to be poorly absorbed. The present study examined whether furazolidone could produce unequivocal clinical response and, if so whether this was due to the drug producing bactericidal levels...
journal_title:Indian pediatrics
pub_type: 临床试验,杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract::A 3.5-month-old infant with undiagnosed underlying combined immunodeficiency presented with S. ceravisiae fungemia following treatment with S. boulardii containing probiotic preparation. This case highlights that the use of probiotics in sick patients may be fraught with danger. ...
journal_title:Indian pediatrics
pub_type: 信件
doi:
更新日期:2019-11-15 00:00:00
abstract::Anthropometric data from our survey of 1,879 children in Madhya Pradesh revealed low sensitivity (17.5%) and positive predictive value (30.4%) of Mid-Upper Arm Circumference (MUAC) at the recommended cut-off of 115 mm for identifying Severe Acute Malnutrition (SAM). This led us to question the reliability of MUAC as a...
journal_title:Indian pediatrics
pub_type: 信件
doi:10.1007/s13312-013-0032-1
更新日期:2013-01-08 00:00:00
abstract:OBJECTIVE:To assess the safety and reactogenecity of indigenously produced measles vaccine derived from EZ strain. DESIGN:A longitudinal clinical follow up after vaccination. SETTING:Hospital based and home follow up, as required. SUBJECTS:12,470 children, 9 to 15 months old, immunized with measles vaccine of EZ str...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1996-10-01 00:00:00
abstract:OBJECTIVE:To document effects of intrapartum risk factors for early onset sepsis (EOS) on CRP levels in neonates and to assess the suitability of this test in diagnosing EOS. DESIGN:Cohort study. SETTING:Labour and post natal wards in a tertiary level teaching hospital in India. SUBJECTS:250 neonates at risk of deve...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2004-09-01 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
pub_type: 杂志文章
doi:
更新日期:2018-04-15 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:OBJECTIVE:To investigate association between dietary habits and asthma severity in children. DESIGN:Cross-sectional study. SETTING:Two teaching hospitals in Brazil. PARTICIPANTS:Cases (n=268) were children (3-12yr) with persistent asthma and age-matched controls (n=126) were those with intermittent asthma. MAIN OUT...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-015-0561-x
更新日期:2015-01-01 00:00:00
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 atypica...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2018-06-15 00:00:00
abstract:OBJECTIVE:To evaluate the effect of vitamin D and calcium supplementation for osteoprotection in thalassemia. METHODS:29 children (age 2-12 y) were supplemented with oral vitamin D (1000 IU/d) and calcium (500 mg/d) for 1 year. The dual energy X-ray absorptiometry (DXA) was done to assess bone mineral content at basel...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2019-04-15 00:00:00
abstract:PURPOSE:Molecular basis of various forms of hyperinsulinemic hypoglycemia, involving defects in key genes regulating insulin secretion, are being increasingly reported. However, the management of medically unresponsive hyperinsulinism still remains a challenge as current facilities for genetic diagnosis and appropriate...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s13312-015-0772-1
更新日期:2015-12-01 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 identify the pattern of congenital heart defects (CHD) in children with Down Syndrome (DS) in an Omani population, and compare it with CHD in children without DS and with historical cohorts from populations with low prevalence of consanguinity. SETTING:Open-access Paediatric Echocardiography Clinic at Sul...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVE:To assess the efficacy of nasal intermittent positive pressure ventilation with heliox in preterm infants with respiratory distress syndrome. METHODS:Premature infants with mild respiratory distress syndrome requiring non-invasive respiratory support were eligible. Infants were randomly assigned to heliox or...
journal_title:Indian pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s13312-014-0524-7
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:To find the effects of inhaled corticosteroids and the impact of different doses of inhaled corticosteroids on the isolation of nasopharyngeal flora in asthmatic children aged 1-15 years. METHODS:The study included 75 children with asthma and 25 age-matched controls. Nasopharyngeal swabs were obtained. Bacte...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2019-11-15 00:00:00
abstract:OBJECTIVE:To determine the prevalence, age distribution and common causes of chronic/recurrent cough in rural children. DESIGN:Prospective study. SETTING:Pediatric population in five villages of Dehlon Block of Ludhiana, Punjab. METHODS:2275 children in the age group of 1 to 15 years were screened by house to house ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract::To document the normal values of pulmonary function tests in children and changes occurring in their values with various respiratory disorders, a study was carried over a period of one year in 95 healthy controls (39 females and 56 males) of 8-13 years of age and 51 cases with respiratory disorders (bronchial asthma-3...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1995-06-01 00:00:00
abstract::We report on the etiology and the short term outcome (3 month) of children with acute renal failure (ARF) at a tertiary care centre in north India. Acute tubular necrosis was the commonest cause of ARF (33%) especially in children <5 years of age; while in children >10 years, glomerulonephritis was the commonest cause...
journal_title:Indian pediatrics
pub_type: 信件
doi:
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVE:To calculate and compare costs of neonatal intensive care by micro-costing and gross-costing methods. METHODS:The costs of resources of a tertiary care neonatal intensive care unit were estimated by the two methods to arrive at specific costs per diagnosis related categories for 33 neonates followed-up prosp...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-014-0376-1
更新日期:2014-03-01 00:00:00
abstract::Pediatric coronavirus disease-19 (COVID-19) infection is relatively mild when compared to adults, and children are reported to have a better prognosis. Mortality in children appears rare. Clinical features of COVID-19 in children include fever and cough, but a large proportion of infected children appears to be asympt...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:2020-05-15 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
pub_type: 杂志文章
doi:
更新日期:2020-03-15 00:00:00
abstract::We enrolled 75 consecutive infants presenting with history of first seizure at a tertiary care hospital in New Delhi, India. Clinical and biochemical work-up for etiology, and electroencephalography were performed in all infants. Developmental assessment was done 3-month after discharge. 72% had generalized seizures, ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2016-10-08 00:00:00
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:Des...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-012-0192-4
更新日期:2012-10-01 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::A study of infant feeding practices was carried out as part of a larger longitudinal study of an urban birth cohort in an area of South Delhi, India. 802 mothers of children over 1 year of age were selected randomly for interview. The study group is considered to be a representative sampling of the economic, cultura...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1976-11-01 00:00:00
abstract:OBJECTIVE:Analyze the profile and outcome of children with rhabdomyosarcoma from a pediatric-oncology unit. DESIGN:Retrospective analysis of case records over 23 years (1990-2012). Setting:Government-run, tertiary-care, university hospital in Northern India. PARTICIPANTS:159 children (<12-years) with a diagnosis of ...
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::A pilot study was undertaken to develop a feasible neonatal screening strategy for hemoglobinopathies. Isoelectric focusing using dried blood spots samples as a primary screening technique was standardized for the first time in India. The screened positives were confirmed by high performance liquid chromatography foll...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Neuroschistosomiasis is an uncommonly reported disease. CASE CHARACTERISTICS:An adolescent Indian boy residing in Kenya presented with headache, visual symptoms and seizures, with MRI showing space-occupying lesions in the occipital lobe and cerebellum. OBSERVATION:Brain biopsy was diagnostic of neuro-schi...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2018-11-15 00:00:00