Abstract:
:Frank-Ter Haar syndrome is an unusual type of skeletal dysplasia with megalocornea and developmental delay. It is usually transmitted as autosomal recessive disorder. Only a few cases have been reported in the literature and none from India. The authors report a case with other unusual features and a short review of the condition.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Femitha P,Joy R,Gane BD,Adhisivam B,Bhat BVdoi
10.1007/s12098-011-0599-2subject
Has Abstractpub_date
2012-08-01 00:00:00pages
1091-3issue
8eissn
0019-5456issn
0973-7693journal_volume
79pub_type
杂志文章,评审abstract:OBJECTIVE:To evaluate genetic variations of innate immune system such as mannose binding lectin (MBL), Toll like receptor 4 (TLR4), CD14, LY96 (MD2) and Uroplakin 1B (UPK1B) genes in children with recurrent urinary tract infection (UTI). METHODS:The study included 30 children with recurrent UTI and 30 healthy controls...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0399-8
更新日期:2011-10-01 00:00:00
abstract::The advent of AIDS has raised a concern regarding transfusion transmitted diseases. Blood transfusion is safer than ever before through continued improvements in safe donor recruitment, screening of donors, testing of donated blood and appropriate clinical use of blood. The risk of residual infections is further reduc...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02722029
更新日期:2001-02-01 00:00:00
abstract::A 5-year-old boy presented with fever, cough, breathlessness and facial swelling. He was pale with distended veins over neck and chest, cervical and axillary lymphadenopathy and bilateral expiratory wheeze. Chest radiographs showed superior mediastinal widening. A computed tomography scan of the chest revealed mediast...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0147-5
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVES:To understand the problems of school going adolescents in selected schools in the first phase and to provide class based family life education in the second phase. METHODS:Step 1: Identification of the study sample, Step 2: Each adolescent was individually administered TSQ-T by trained project staff , Step ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1132-6
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVES:To test the feasibility of adding a novel delayed intensification chemotherapy to a dose-intensive induction regimen chemotherapy for high-risk neuroblastoma. METHODS:Patients enrolled in this study received chemotherapy in accordance with the design of the NB97 trial. At the end of the therapy, patients re...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2737-6
更新日期:2019-02-01 00:00:00
abstract::HIV infection has profound effects on a patient's nutritional status because it can modulate appetite, nutrient absorption and basal metabolic rate. In addition, HIV infection can lead to the depletion of a variety of vitamins and micronutrients including vitamins A, D, B2, B6, B12, L-carnitine, iron, zinc and seleniu...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02730805
更新日期:1996-09-01 00:00:00
abstract:OBJECTIVES:To retrospectively assess growth of children with congenital adrenal hyperplasia (CAH) with special reference to puberty and to assess longitudinal growth and final height of subset of children with CAH. METHODS:A retrospective analysis of 30 children (14 boys) with classic CAH (11 salt wasters, 19 simple v...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2753-6
更新日期:2019-02-01 00:00:00
abstract::Moebius syndrome is characterized by congenital complete or partial facial nerve palsy with or without paralysis of cranial nerves and often associated with other malformations. Cardiac anomalies though known are very rare and till date only 4 cases have been reported. We present a case of Moebius syndrome with suprac...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02758568
更新日期:2006-05-01 00:00:00
abstract::Intolerance to foods which contain lactose can cause a range of intestinal and systemic symptoms. These symptoms are caused by Lactase deficiency which is encoded by a single gene (LCT) of ≈ 50 kb located on chromosome 2q21. In some food items, lactose has been missed because of "hidden" lactose due to inadequately la...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-014-1346-2
更新日期:2014-09-01 00:00:00
abstract::In India, child malnutrition is prevalent, especially among the poor and vulnerable. It is mostly the result of high levels of exposure to infection and inappropriate infant and young child feeding and caring practices, and it sets in mostly during the first 2 to 3y of life. Therefore, the present study was done to as...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-012-0894-6
更新日期:2013-12-01 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 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::Laboratory investigations are an integral part of evaluation of a child with rheumatic disease. In rheumatic diseases markers of inflammation like CRP and erythrocyte sedimentation are usually raised. In addition, various autoantibodies like anti-nuclear antibody, rheumatoid factor, anti-neutrophil cytoplasmic antibod...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723714
更新日期:2002-10-01 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::Cerebral palsy is a common neurodevelopmental condition encountered by pediatricians. The condition may present itself in many different clinical spectra. The etiological and risk factors are many and an awareness of the interplay of multiple factors in the causation of CP is crucial. In many cases, the cause of Cereb...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02731117
更新日期:2005-10-01 00:00:00
abstract::Necrotizing enterocolitis (NEC), an inflammatory bowel necrosis of preterm infants, is the most common gastrointestinal emergency and a major cause of morbidity and mortality in these infants. In this article, the authors review the pathophysiology and clinical presentation of NEC and provide a critical appraisal of t...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-014-1388-5
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVES:To screen patients with frequently relapsing nephrotic syndrome (FRNS) for the presence of ambulatory hypertension and left ventricular hypertrophy. METHODS:Following ethical and parental approvals, consecutive patients with FRNS of ≥2 y duration were enrolled. Those with estimated glomerular filtration rat...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-016-2207-y
更新日期:2017-01-01 00:00:00
abstract::Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, caused due to mutations in the TSC1 and TSC2 genes. Mutations in TSC2 gene are more common than in TSC1 gene and mostly they are in the form of large genomic deletions or duplications. The authors report on a novel deletion in TSC2 gene, prenatal diag...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0408-y
更新日期:2012-10-01 00:00:00
abstract::This case describes a contiguous mediastinal and retroperitoneal mature teratoma in a congenital diaphragmatic defect, a combination that is hitherto unreported in literature. It substantiates embryological chronology of events during the cephalad migration of the primordial germ cells through the developing diaphragm...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0020-6
更新日期:2010-05-01 00:00:00
abstract::Hirschsprung disease is a common cause of neonatal and infantile large gut obstruction. It is characterised by varying extent of contiguous aganglionosis extending from the anorectum proximally. Since its recognition, the diagnosis and management has continuously evolved with advances in histological evaluation and su...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-017-2371-8
更新日期:2017-08-01 00:00:00
abstract::Vaccine Associated Paralytic Poliomyelitis (VAPP), although a known hazard with Oral Polio Vaccine (OPV), has not received adequate attention in India despite increasing use of OPV in repeated rounds of national immunization days. An analysis by National Polio Surveillance Project in 1999 suggested that incidence of V...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723161
更新日期:2003-07-01 00:00:00
abstract::It is a common clinical practice to estimate FSH, LH and testosterone levels in patients with unilateral undescended testis (U/L UDT) as a prognostic pointer to fertility potential. Is this practice correct? To ascertain this aspect, new born rats were operated to create experimental U/L UDT by gubernaculectomy and an...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02761205
更新日期:1999-03-01 00:00:00
abstract::Celiac disease may present as a cryptogenic liver disorder being found in 5-10 % of patients with a persistent and cryptogenetic elevation of serum aminotransferase activity. In fact, a wide spectrum of liver injuries in children and adults may be related to CD and in particular: (1) a mild parenchymal damage characte...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02790391
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVES:To analyse the clinical and molecular spectrum of Lipoprotein Lipase (LPL) deficiency and to highlight the effect of a cost-effective indigenous diet for management of this disorder. METHODS:This is a single-centre retrospective study. Fifteen patients from 14 kindreds with severe hypertriglyceridemia (more...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-020-03305-z
更新日期:2021-02-01 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::This article aims to describe the National Family Health Survey (NFHS) being carried out in India with its first round during 1992-93 (NFHS-I) and second round during 1998-99 (NFHS-II), with special reference to information available in relation to children. The survey was on lines of the existing systems of Demograph...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722355
更新日期:2001-11-01 00:00:00
abstract::We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02898455
更新日期:2006-08-01 00:00:00
abstract::In a prospective study of 1,053 consecutive children who attended the Rheumatic Care Centre, Government General Hospital, Madras from 1991 to 1995, 331 children fulfilled the criteria proposed by the American Rheumatism Association as modified by Cassidy et al for the diagnosis of Juvenile Rheumatoid Arthritis. These ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02905724
更新日期:1996-07-01 00:00:00
abstract::CMV is a ubiquitous virus. In India, there is high seroendemicity with almost 99% adults showing IgG antibodies. Infection or re-activation becomes important in immunocompromised host (Transplant recipients, Cancer therapy patients and patients with HIV/AIDS). Neonates form a distinctive high risk population for conge...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0255-2
更新日期:2010-01-01 00:00:00
abstract::Deficiencies in intake of essential vitamins and minerals (commonly referred to as micronutrients) that are essential for efficient energy metabolism and other functions of the human body (commonly termed as micronutrients) are severe and widespread in many parts of the world. They cause an immeasurable burden on indi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02828115
更新日期:2004-11-01 00:00:00