Abstract:
BACKGROUND:Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria. CASE CHARACTERISTICS:A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia. OUTCOME:Genetic analysis revealed a homozygous mutation, c.158C>T (p.Ser53Leu) in exon 1 of SLC7A7 gene. With appropriate management of hyperammonemia episodes, his neurodevelopmental outcome is normal. MESSAGE:Lysinusic protein intolerance is a potentially treatable disorder and should not to be missed.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Bijarnia-Mahay S,Jain V,Bansal RK,Reddy GM,Haberle Jdoi
10.1007/s13312-016-0920-2subject
Has Abstractpub_date
2016-08-08 00:00:00pages
732-4issue
8eissn
0019-6061issn
0974-7559journal_volume
53pub_type
杂志文章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::Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes. ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2005-04-01 00:00:00
abstract:OBJECTIVE:To determine use of early Tc-99m dimercaptosuccinic acid scintigraphy in screening for vesicoureteral reflux following first febrile urinary tract infection. METHODS:43 children (1 mo-5 yr) with first febrile urinary tract infection underwent micturating cystourethrography, abdominal sonogram and early dimer...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-015-0631-0
更新日期:2015-04-01 00:00:00
abstract::Patent ductus arteriosus (PDA) is a major morbidity in preterm infants, especially in extremely premature infants less than 28 weeks. The clinical signs and symptoms of PDA in preterm infants are non specific and insensitive for making an early diagnosis of significant ductal shunting. Functional echocardiography is e...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s13312-011-0062-5
更新日期:2011-04-01 00:00:00
abstract::This paper explores the relationships between maternal weight, height and poor pregnancy outcome using a data set from a case-control study of low birth weight (LBW) and perinatal mortality in Ahmedabad, India. Maternal height and weights were compared between mothers of 611 perinatal deaths, 644 preterm-LBW, and 1465...
journal_title:Indian pediatrics
pub_type: 杂志文章,多中心研究
doi:
更新日期:1994-10-01 00:00:00
abstract::Thirty-two infants above one month of age admitted to a tertiary care hospital with signs of infection and presumptive diagnosis of sepsis were included. Cytokine levels of tumor necrosis factor alpha (TNFmu) and interleukin-6 (IL 6) were estimated at admission and after 48 to 72 hr, and their relationship examined to...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2005-10-01 00:00:00
abstract::Twenty five to thirty per cent of all patients admitted with head injuries to any large hospital are children. Head injuries in children differ in several ways from those seen in the adult population. A standard management protocol is used in a service hospital and CT and neurosurgical consultation/transfer is based o...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1994-06-01 00:00:00
abstract::Ensuring quality in healthcare today has become extremely essential to ensure adequate utilization of healthcare services and improved outcomes. In addition to essential infrastructure in terms of safe and adequate space, knowledgeable and skilled health workers, and essential equipment and supply, the healthcare team...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:2018-09-15 00:00:00
abstract:BACKGROUND:Antiphospholipid syndrome is a multisystem auto-immune disorder characterized by arterial or venous thrombosis in children. CASE CHARACTERISTICS:11-year-old child with pneumococcal meningitis also had cerebral sinus vein thrombosis and pulmonary artery segmental thrombosis. OBSERVATION:Pro-thrombotic evalu...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2018-05-15 00:00:00
abstract::Thirty six neonates with severe birth asphyxia (Apgar score less than or equal to 3 at 1 min), 32 with moderate birth asphyxia (Apgar score 4 to 6 at 1 min) and 35 controls (Apgar score greater than or equal to 7 at 1 min) matched for weight and gestation were followed up prospectively for neurodevelopmental outcome. ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1989-08-01 00:00:00
abstract::The study population included 110 term healthy small-for-gestational age (SGA) infants having a blood sugar of > 30 mg/dl at the age of < 30 minutes. They were randomized into two groups; (a) Group I (study group) received sugar-fortified milk formula and (b) Group II (control group) received standard milk formula. A ...
journal_title:Indian pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1992-11-01 00:00:00
abstract:JUSTIFICATION:Separate guidelines are needed for determining the optimal timing of intervention in children with congenital heart diseases in India, because of their frequent late presentation, undernutrition and co-existing morbidities. PROCESS:Guidelines emerged following expert deliberations at the National Consens...
journal_title:Indian pediatrics
pub_type: 杂志文章,实务指引
doi:
更新日期:2008-02-01 00:00:00
abstract::Three hundred and fifty stool samples from patients with acute diarrhea and 30 samples from normal healthy controls were examined for the presence of various parasitic and bacterial enteropathogens by conventional techniques. Cryptosporidium oocysts were detected in 15 out of 350 (4.3%) fecal samples. In 10 cases (2.9...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1991-08-01 00:00:00
abstract:OBJECTIVES:To identify important factors (linked to lifestyle, eating and sedentary behaviors) relating to waist circumference among urban South Indian children aged 3 to 16 years. DESIGN:Cross sectional. SETTING:Urban schools of Bangalore, from August 2008 to January 2010. PARTICIPANTS:8444 children; 4707 children ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-012-0027-3
更新日期:2012-02-01 00:00:00
abstract::A 3 year old child was brought with fever, left parotid swelling and altered sensorium. Cultures from blood, pus and throat swab grew Burkholderia pseudomallei. A diagnosis of septicemic melioidosis with encephalopathy was made. She recovered following treatment with parenteral ceftazidime for 14 days, and 6 months of...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-010-0106-2
更新日期:2010-09-01 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 retrospective analysis was carried out to identify factors associated with delay in diagnosis of Kawasaki disease in a tertiary care pediatric hospital setting in Chennai, India. Over a period of 2 years, a total of 37 cases were studied. The cases were divided into Early Diagnosis Group (EDG) and Delayed Diagnosis ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-012-0130-5
更新日期:2012-08-01 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::Salmonella senftenberg was isolated from the stools of 35 newborns between June, 1987 and September, 1988. Twenty nine (82.8%) babies were preterms and twenty six (74%) babies were less than 2,000 grams in weight. All of them were symptomatic within 6 days of life, 74.3% (26) within 4 days. All of them had loose stool...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVE:To study the effect of zinc supplementation in children under 5 years of age rom low- and middle-income countries (LMICs) on anthropometry and prevalence of malnutrition. Design:Systematic review of randomized controlled trials and cluster randomized trials. SETTING:Low- and middle-income countries. PARTIC...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2019-05-15 00:00:00
abstract::In a randomized controlled design, 100 healthy, term neonates in the first week of life, undergoing heel prick for routine screening were randomized to receive a heel prick in either the drowsy/sleeping state or the awake (but not fussy or crying) state. 48 babies in sleeping or drowsy states and 47 in the awake state...
journal_title:Indian pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s13312-011-0082-1
更新日期:2011-05-01 00:00:00
abstract::The incidence and the factors that influence twinning were studied in six villages of Dholka Taluka, a rural field training centre. The twinning rate was 10.10 per 1000 maternities. The monozygotic and dizygotic twinning rates were 4.53 and 5.56, respectively by applying Weinberg's differential formula. In three fourt...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1990-03-01 00:00:00
abstract:CONTEXT:Cryptosporidium spp. is a zoonotic infection, now being recognized as a significant cause of diarrhea in both immunocompetent and immunocompromised hosts. However, there still exist significant knowledge gaps in its estimated global burden, epidemiology, diagnosis and management. EVIDENCE ACQUISITION:A semi-sy...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s13312-017-1093-3
更新日期:2017-04-15 00:00:00
abstract:OBJECTIVE:To compare the rate of optimal position of UVC between modified Shukla's formula and JSS formula. METHODS:Babies requiring umbilical vein catheterization were randomized to either Shukla or JSS formula group. Post-procedure X-ray was taken to check the tip position. Tip of the UVC just above the diaphragm (T...
journal_title:Indian pediatrics
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2019-03-15 00:00:00
abstract::Audit in medicine is a well tried means of assessing the quality of practice by using acceptable measures of outcome. Audit in maternal and child health has been limited to fatal outcomes such as maternal and perinatal deaths. The outcome of audit is of interest to the providers, the health authorities and the consume...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1994-11-01 00:00:00
abstract::We conducted a case control study to compare the quality of life (QOL) in 40 cases of HIV infected children and 40 demographically matched controls with other chronic ailments at a referral hospital in Northern India. Quality of life among HIV infected children was significantly better in psychosocial (P=0.008), emoti...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-013-0300-0
更新日期:2013-12-01 00:00:00
abstract:OBJECTIVE:To determine the role of intravenous administration of human albumin prior to blood exchange in term neonates for reduction of total serum bilirubin (TSB). DESIGN:Randomized controlled trial. SETTING:Neonatal Unit of Nemazee Hospital, affiliated with Shiraz University of Medical Sciences, southern Iran. PA...
journal_title:Indian pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s13312-010-0046-x
更新日期:2010-03-01 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:OBJECTIVE:To evaluate the effect of canakinumab on growth parameters of patients with autoinflammatory diseases. METHODS:This retrospective study included Colchicine resistant familial Mediterranean fever (FMF), Mevalonate kinase deficiency (MKD), Tumor necrosis factor receptor-associated periodic fever syndrome (TRAP...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2020-07-15 00:00:00
abstract::Clinical and hematological data of 9 cases with factor XIII deficiency is highlighted. The age at first bleed ranged from 3 days of life to 1 year. Seven of these 9 cases had bleeding from the umbilicus, 3 had recurrent subcutaneous and muscle hematomas, while 4 cases had CNS bleeds of which 3 expired. Routine coagulo...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:1992-07-01 00:00:00