Abstract:
:A 9-y-old boy was referred to authors' institute for the management of insulin dependent diabetes mellitus. He was the product of third degree consanguineous marriage and was delivered by full term vaginal delivery with a birth weight of 2.75 kg. At 3 mo of age, he had presented with diabetic ketoacidosis and was on insulin regimen. Patient had delayed milestones and short stature. On follow up, child developed limb deformity and was diagnosed to have skeletal dysplasia. At the age of 9 y, patient was diagnosed to have cirrhosis of liver. Genetic analysis revealed homozygous EIF2AK3 nonsense mutation. It confirmed the diagnosis of Wolcott-Rallison syndrome. Patient's mother was heterozygous for the same mutation.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Khare S,Goroshi MR,Budyal S,Bandgar T,Lila A,Shah Ndoi
10.1007/s12098-014-1422-7subject
Has Abstractpub_date
2014-11-01 00:00:00pages
1225-7issue
11eissn
0019-5456issn
0973-7693journal_volume
81pub_type
杂志文章abstract::Although seasonal trends in incidence and diagnosis of pediatric cancers have been widely investigated, the results have been inconclusive. A consistent seasonal trend may possibly provide etiological insights into pediatric cancers. This study aims to determine if there is a seasonal variation in cancer diagnoses in ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-017-2561-4
更新日期:2018-09-01 00:00:00
abstract::We studied 289 newborn infants from birth till one year of age. Low birth weight babies (less than 2.5 kg) were 52.9%. Boys suffered 9.7 episodes of sickness, and girls 8.6 episodes of sickness. The mean episodes of various sicknesses, and their impact on weight gain, feeding pattern and growth pattern are discussed. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02726615
更新日期:1989-03-01 00:00:00
abstract:OBJECTIVE:To determine the sociodemographic and clinical factors leading to stress among parents whose children are admitted in pediatric intensive care unit (PICU). METHODS:A prospective observational study was conducted in PICU of a tertiary care hospital of north India. Parents of children admitted to PICU for at l...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1415-6
更新日期:2014-11-01 00:00:00
abstract::The Polymerase Chain Reaction (PCR) is a revolutionary new means of amplifying, i.e., replicating, selected DNA sequences in vitro. This procedure is highly sensitive and rapid, requiring few hours for detection of amplified target DNA whereas it often takes several weeks for the identification of many fastidious orga...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02737744
更新日期:1997-07-01 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:OBJECTIVE:To determine the correlation between various obesity indices and pulmonary function parameters in obese Thai children and adolescents. METHODS:Obese children and adolescents aged from 8 to 18 y and diagnosed under the criteria of International Obesity Task Force (IOTF) were enrolled. Anthropometric and body ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-015-1777-4
更新日期:2015-12-01 00:00:00
abstract::Biotin Thiamine responsive Basal Ganglia Disease (BTBGD) is a rare treatable autosomal recessive metabolic disorder caused by mutations in SLC19A3 gene. It usually presents with encephalopathy and dystonia; if not treated, can progress to quadriparesis and death. Two Indian siblings born to a consanguineous marriage p...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-017-2471-5
更新日期:2018-02-01 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:OBJECTIVE:To assess performance of WHO 2006 standards on anthropometric measurements of children referred for growth related disorders to a speciality pediatric clinic in Pune, India, from June 2006 through June 2010. METHODS:Data presented in this study were collected retrospectively from case records of all children...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-012-0687-y
更新日期:2012-07-01 00:00:00
abstract::"Hypertensive" variant of congenital adrenal hyperplasia is rare. The authors describe an interesting case of a 6-y-old boy who presented with an acute respiratory illness and progressive breathlessness since 1 y. Genital hyperpigmentation was noticed since 2 y of age; the onset of pubarche and increasing penile size ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0649-9
更新日期:2012-09-01 00:00:00
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::Paracetamol (acetaminophen) has become an antipyretic drug of choice. Due to its widespread use, toxicity secondary to overdose has increased in recent years. Children are especially vulnerable to accidental exposure due to non availability of child proof containers in India. The main clinical features of acute toxici...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02761132
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVES:To determine the incidence, pattern, causality, preventability, severity and predictors of adverse drug reactions (ADRs) in pediatric population. METHODS:It was a prospective, observational study that included patients of either sex, of any age treated in the pediatric wards of a tertiary care hospital. Stu...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-015-2002-1
更新日期:2016-05-01 00:00:00
abstract::Dietary micronutrients such as vitamins and trace minerals are known modulators of host immune responses against common pathogens. In this respect, vitamin A and zinc have recently received increased attention. Several in vivo and in vitro studies suggest that vitamin A may be a critical player in the mucosal immune r...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02905712
更新日期:1996-07-01 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::Forty children aged 5 months to 3 years and suffering from wheezy baby syndrome (WBS) were evaluated to find out the prevalence of neonatal meconium aspiration syndrome (MAS) from the birth records. Twelve (30%) babies with WBS were detected to have a history of MAS at birth, significant enough to require a neonatal I...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02750935
更新日期:1991-07-01 00:00:00
abstract:OBJECTIVE:To evaluate the effectiveness of an MRI-specific play therapy intervention on the need for sedation in young children. METHODS:All children in the age group of 4-10 y, who were advised an MRI scan over a period of one year were randomized. Exclusion criteria included children with neurodevelopmental disorder...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s12098-015-1917-x
更新日期:2016-03-01 00:00:00
abstract::A cross-sectional study was conducted on the children of 146 randomly selected families in Abha, Saudi Arabia. Counting of teeth and examination for caries teeth of children under 12 years of age were done by family visits. The results showed that no child developed teeth before 5 months. By 12 months there were on an...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722141
更新日期:1990-01-01 00:00:00
abstract::Castleman's disease is an atypical lymphoproliferative disorder having two types of presentation--the localized and the multicentric form. The localized form presents as a slowly growing mass with a relatively benign course. Multicentric Castleman's disease has a more aggressive clinical course with diffuse lymph node...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-007-0210-z
更新日期:2007-12-01 00:00:00
abstract:OBJECTIVE:To find out whether gDNA methylation can be used as a diagnostic/prognostic method for neonatal sepsis. METHODS:The study was conducted in the neonatal division of a tertiary care referral hospital. Fifty one newborns as cases and thirty seven newborns as controls were enrolled in the study. Using 5-mC DNA E...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1574-5
更新日期:2015-04-01 00:00:00
abstract:OBJECTIVE:To explore the independent role of age at menarche on menstrual abnormalities among adolescents. METHODS:The present study was a multicenter cross-sectional study on a large sample (n = 3782) of Italian girls aged 13-21 y attending secondary school who already had menarche. Girls were asked to fill in a ques...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-018-2822-x
更新日期:2019-01-01 00:00:00
abstract::Achalasia is rare in children, more so familial. We report two siblings with familial achalasia who presented in their infancy with vomiting and failure to thrive. Achalasia can be misdiagnosed as upper gastrointestinal obstruction as happened in one of our siblings. Esophageal contrast roentgenography is diagnostic. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02762120
更新日期:2001-09-01 00:00:00
abstract::Neurological findings in HIV are common and include cognitive impairment, microcephaly, nonspecific white matter lesions and seizures. Cerebral vasculopathy and stroke are uncommon and may be due to primary HIV vasculopathy or opportunistic infections such as tuberculosis and cryptococcal meningitis. The authors descr...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-016-2073-7
更新日期:2016-08-01 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::Teratomas form the most common type of congenital brain tumors, frequently presenting as stillbirth. The largest neonatal series of intracranial teratomas reported a 12% survival rate. Although the first teratoma of the lateral ventricle was reported in 1961 by Maier, neonatal intracranial teratoma of the lateral vent...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0039-8
更新日期:2010-04-01 00:00:00
abstract::Fifteen low birth weight premature infants with a diagnosis of PDA were administered 0·2 mg/kg of indomethacin orally, 3 doses at 12 hourly intervals. The results were compared with 18 prematures who were managed by fluid restriction (80-100 ml/kg/day) and decongestive therapy. Nine out of the 15 cases who received in...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02749534
更新日期:1986-07-01 00:00:00
abstract::We evaluated four children with rounded densities on their chest radiographs in whom the final diagnosis was presumed to be lower respiratory tract infection. The differential diagnose between round pneumonia and a neoplastic process is difficult to make. In this report, all of cases of round pneumonia have resolved c...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-008-0085-7
更新日期:2008-05-01 00:00:00
abstract::Growth monitoring and nutritional assessment, as means to detect malnutrition, are 2 different types of programs in terms of conception, purposes, and execution. Growth monitoring starts as detection of malnutrition, then acts through prevention by communication to mothers, and finally utilizes community participatio...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02810383
更新日期:1988-01-01 00:00:00
abstract::Allgrove syndrome consists of triad of Adrenal hypoplasia, Achalasia cardia and Alacrimia. Often the first manifestation of adrenal hypoplasia is Addisonian crisis precipitated by infection or trauma. We present case of a 9-year-old boy who presented in shock due to adrenal failure later confirmed to have Allgove synd...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-007-0179-7
更新日期:2007-10-01 00:00:00
abstract::High dose vitamin A (HDVA) concentrate began to be distributed in India in 1970 as a short-term, stop-gap approach to reduce clinical signs of vitamin A deficiency. As this problem declined globally, the purpose of distributing them changed to the reduction of young child mortality. However, their impact on this has a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-018-02851-x
更新日期:2019-06-01 00:00:00