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 Berardinelli-Seip congenital lipodystrophy (BSCL2 type) in three subjects from two unrelated Indian families (family1 and family2). The mutation (c.IVS2 11 A GT G ) found in affected members of family1 is a newly identified mutation. We also report the association of renal anomaly with this new mutation.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Mandal K,Aneja S,Seth A,Khan Asubject
Has Abstractpub_date
2006-05-01 00:00:00pages
440-5issue
5eissn
0019-6061issn
0974-7559journal_volume
43pub_type
杂志文章abstract::This study was conducted to standardize a clinical test to assess cognitive functions in children between 3-14 years and to evaluate its use in patients with encephalopathy. We included 50 children in Group A with non-neurological illness. Another 50 children were included in Group B with encephalopathy due to varied ...
journal_title:Indian pediatrics
pub_type: 临床试验,杂志文章
doi:
更新日期:2005-09-01 00:00:00
abstract::A quadrivalent MMRV (measles-mumps-rubella-varicella) combination vaccine has recently been launched in India. This vaccine is highly immunogenic, with seroconversion rates against all antigens reaching 96.6-100% at 42 to 56 days after the second vaccine dose in unvaccinated children or in those previously vaccinated ...
journal_title:Indian pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s13312-017-1209-9
更新日期:2017-12-15 00:00:00
abstract::The study was undertaken to compare the antibody response of 6-12 weeks old infants after three doses of standard trivalent oral polio vaccine (TOPV) (Groups A; (n = 42) with three doses of double the amount of TOPV (Group B; n = 35). Seroconversions in Group A were 64.2, 80.9% and 57.1% for Types I, II and III poliov...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
abstract::Marfan syndrome rarely presents with peripheral artery and pulmonary artery aneurysms. We are presenting a case of a fifteen-year-old boy who presented to us with progressive lower abdominal pulsatile swelling with bruit in the right inguinal region for one month. He had typical marfanoid habitus, though there was no ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2013-05-08 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::Intravenously administered rehydration therapy was compared with orally administered rehydration therapy for treating children with diarrhea in a clinical study of 3000 children admitted to the Medical College Hospital, Kottayam, India. Oral rehydration was more effective and safer than intravenously administered flu...
journal_title:Indian pediatrics
pub_type: 临床试验,杂志文章
doi:
更新日期:1978-10-01 00:00:00
abstract::A 2-yr-old child with early onset diabetes and hypothyroidism, and diagnosed as Wolcott-Rallison Syndrome, developed two episodes of acute liver failure and recovered, but he remains at high risk of developing another episode of acute liver failure. Autoimmune, metabolic or genetic disorders should be evaluated in chi...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2019-12-15 00:00:00
abstract:OBJECTIVE:To study the effect of oil massage on growth and neurobehavior in preterm babies less than 1500 g. DESIGN:Randomized Controlled Trial. SETTING:Tertiary level neonatal unit of a teaching hospital. SUBJECTS:Neonates with birth weight <1500 grams, gestation >37 weeks, receiving enteral feeds of at least 100 m...
journal_title:Indian pediatrics
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2005-11-01 00:00:00
abstract:OBJECTIVE:To study the clinical profile and outcome of langerhans cell histiocytosis in children upto 2 years of life. DESIGN:Retrospective analysis. METHODS:Medical records of Children upto 2 years of age with a diagnosis of langerhans cell histiocytosis (LCH) were analyzed. Their clinical pattern, treatment modalit...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Transfusion-related acute lung injury is a rare form of acute respiratory distress syndrome of possible immune etiology that develops immediately after a blood product transfusion. Clinicians need to be aware of this condition as prompt recognition and supportive management can prevent unwanted morbidity and mortality...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2012-02-01 00:00:00
abstract:OBJECTIVE:To compare the performance of respiratory rate and other clinical signs against pulse oximetry for predicting hypoxia in children with Severe pneumonia/Very severe disease as per Integrated Management of Neonatal and Childhood Illness (IMNCI) classification. DESIGN:Cross-sectional study. SETTING:Pediatric e...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-017-1163-6
更新日期:2017-09-15 00:00:00
abstract:OBJECTIVE:To examine the benefits of anemia prophylaxis in adolescent school.girls by weekly or daily iron-folate supplementation. DESIGN:Prospective study. SETTING:Government girl schools of northeast Delhi. SUBJECTS:2088 subjects (with hemoglobin greater than 7.9 g/dL), including 702 on daily and 695 on weekly iro...
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:2003-04-01 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 case of primary hyperparathyroidism associated with prolonged hungry syndrome (HBS) after parathyroid adenomectomy in a 10-year-old girl. Bone mineral density (BMD) revealed severe loss of cancellous BMD. Overt bone disease, high alkaline phosphatase, decreased cancellous BMD and a large adenoma can be use...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2009-02-01 00:00:00
abstract::Six hundred and forty six cases in the age group 8-14 years suffering from paralytic poliomyelitis were analysed to find out the immunization status and its correlation with the incidence of poliomyelitis. In 382 cases where the immunization status was known, it was found that 325 (85.02%) cases were not immunized, 23...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1989-05-01 00:00:00
abstract::Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance....
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-011-0008-y
更新日期:2011-01-01 00:00:00
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 re...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-016-0920-2
更新日期:2016-08-08 00:00:00
abstract::This report is based on observations during the conduct of a study of hypocalcemia in infants and children. In a study of 50 cases, 13 exclusively breast fed infants manifesting with hypocalcemic seizures were confirmed to have vitamin D deficiency. None of the 13 infants had received vitamin D supplementation. All of...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2006-03-01 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
pub_type: 杂志文章
doi:
更新日期:2019-07-15 00:00:00
abstract::In 2017, a 10-year-old girl, who was allegedly raped and impregnated, was denied an abortion on the basis of the Medical Termination of Pregnancy Act 1971. This perspective re-examines this issue while prioritizing the best interest of the child. We recommend that boards should be constituted at district-level hospita...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2018-10-15 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: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::This study was conducted to determine the frequency of antinuclear antibodies (ANA) positivity and uveitis in our newly diagnosed juvenile idiopathic arthritis (JIA) patients classified according to International League Against Rheumatology (ILAR) classification criteria. Ninety-two girls and 106 boys, totally 198 chi...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:2004-10-01 00:00:00
abstract:BACKGROUND:Calcinosis cutis is usually seen in long standing and untreated cases of juvenile dermatomyositis. CASE CHARACTERISTICS:7-year-old girl with severe calcinosis cutis who developed cutaneous ulceration, rash and myopathy. OBSERVATION:Myopathic changes in EMG, muscle edema in MRI, elevated muscle enzymes and ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-014-0531-8
更新日期:2014-11-01 00:00:00
abstract:JUSTIFICATION:Seizures constitute the most common neurological problem in children and the majority of epilepsy has its onset in childhood. Appropriate diagnosis and management of childhood epilepsy is essential to improve quality of life in these children. Evidence-based clinical practice guidelines, modified to the I...
journal_title:Indian pediatrics
pub_type: 杂志文章,实务指引
doi:
更新日期:2009-08-01 00:00:00
abstract:OBJECTIVE:To evaluate adiponectin levels in children and adolescents with type I diabetes, and their relationship to long term complications. DESIGN:Cross sectional. SETTING:Tertiary referral hospital, Cairo, Egypt. PARTICIPANTS:Thirty children and adolescents with type I diabetes mellitus, classified into complicat...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-012-0041-5
更新日期:2012-04-01 00:00:00
abstract::Seventy five mothers with lactation failure were studied, whose less than 4-month-old babies were admitted to the hospital. Partial lactational failure (94.7%) was noted more often than complete lactational failure (5.3%). Initiation of breastfeeding was delayed for 2 to 5 days usually for traditional reasons (77.3%) ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:
更新日期:1992-12-01 00:00:00
abstract:OBJECTIVE:To describe the clinical characteristics and outcome of Indian children infected with 2009 H1N1 influenza virus. STUDY DESIGN:Retrospective chart review. SETTING:Outpatient department and hospitalized patients in a tertiary care hospital. METHODS:Clinical details of 85 children (positive for the 2009 H1N1 ...
journal_title:Indian pediatrics
pub_type: 杂志文章
doi:10.1007/s13312-011-0085-y
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::30 MEDLINE indexed Indian journals publishing clinical trials were identified and their editorial policies on trial registration were assessed. Trial registration number was required in 9 journals (30%).16 journals (53.33%) encouraged adherence to the CONSORT Statement, while 22 (73.33%) mentioned ICMJE Guidelines. ...
journal_title:Indian pediatrics
pub_type: 信件
doi:10.1007/s13312-013-0092-2
更新日期:2013-03-01 00:00:00