Abstract:
:Assay of hexosaminidase A and B enzymes in four cases with developmental regression and cherry red spot on fundus examination confirmed that three cases had Tay-Sachs disease, and one case had Sandhoff disease. Prenatal diagnosis was carried out by hexosaminidase enzyme assay in amniotic fluid and cells in one family, and chorionic villus sample in the second family. The fetus was diagnosed to be unaffected in one, and affected in the other family. Assay of hexosaminidase A and B is useful for specific diagnosis of GM2 gangliosidosis, and for prenatal diagnosis to reduce the burden of these disorders.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Kaur M,Verma ICdoi
10.1007/BF02755072keywords:
subject
Has Abstractpub_date
1995-07-01 00:00:00pages
485-9issue
4eissn
0019-5456issn
0973-7693journal_volume
62pub_type
杂志文章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::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::Iron overload is a serious and potentially fatal condition that results from multiple blood transfusions required over a long period of time to treat certain types of anemias such as, that caused by beta-thalassemia, sickle cell disease and myelodysplastic syndrome. Deferoxamine, which has been used since four decades...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-010-0030-4
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:To conduct a community survey to understand the prevalence and type of developmental delay/disability among a representative state wide community sample of children below 3 y. METHODS:A state wide community based cross sectional survey was done with the help of the Integrated Child Development Services (ICDS...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1579-0
更新日期:2014-12-01 00:00:00
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 i...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1422-7
更新日期:2014-11-01 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::Distinction between true and pseudo trail in lumbo-sacral region is important since treatment and prognosis are different. Fewer than 40 cases have been reported in literature. The authors report a case of true tail in a neonate, a rare event. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:
更新日期:2005-02-01 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::Lifetime achievement awards are awarded to recognize contributions during the career of an individual, rather than for a single or multiple contributions of a person in his/her field of specialty. I am highly honored being the recipient of the Dr. K. C. Chaudhuri Lifetime Achiement Award Oration. The award for me is s...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-015-1838-8
更新日期:2015-12-01 00:00:00
abstract::In patients with Mycoplasma pneumonia extrapulmonary manifestations such as encephalitis, meningitis, cerebellar and brain stem involvement, cranial nerve lesions, peripheral neuropathy, polymyositis have been observed. We report a 16-year-old girl with M. pneumonia infection, acute behavioral changes and coma. Treatm...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02859473
更新日期:2000-06-01 00:00:00
abstract::Interpersonal communication between pediatricians and mothers is both complex and interdependent. The mother is dependent on the pediatrician for her child's wellbeing and care along expertise-related dimensions for which she cannot provide. The pediatrician is dependent on the mother's ability to provide accurate inf...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-012-0934-2
更新日期:2013-12-01 00:00:00
abstract::Vaccines have been successful in reducing the mortality and morbidity, but most of them are delivered by intramuscular or intravenous route. They are associated with pain to the baby and bring lot of anxiety for the parents. There has been a marked increase in the number of injections required in first two years of li...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-017-2377-2
更新日期:2018-02-01 00:00:00
abstract::A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduri...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02820214
更新日期:2006-02-01 00:00:00
abstract::TAR syndrome is a rare inherited autosomal recessive disorder with a mortality rate of 30-40% mainly as a result of haemorrhage, in the first year of life. Most of the infants recover from the effects of thrombocytopenia and associated haematological complications with the modern medical care. Very rarely, the outcome...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02737770
更新日期:1997-07-01 00:00:00
abstract::A 3-yr-old boy presented with respiratory distress of 2 days duration. There was a history of blunt trauma to the lower chest having occurred 5 days earlier. Although missed initially, serial chest X-rays and a computed tomographic (CT) scan revealed an isolated traumatic right-sided diaphragmatic hernia without any i...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0282-z
更新日期:2009-11-01 00:00:00
abstract::Fibrochondrogenesis is a rare lethal short-limb skeletal dysplasia. Till now only fifteen cases have been reported since Lazzaroni-Fossati first described it in 1978. Hence reported a case of fibrochondrogenesis in a child born to a consanguineously married couple with characteristic physical and radiological features...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02724021
更新日期:2005-04-01 00:00:00
abstract:OBJECTIVES:To prospectively study the clinical and developmental profile; hematological profile and the B-12 status using multiple parameters in children with Infantile tremor syndrome (ITS). METHODS:In this observational study (NCT02762682) (July 2015 through December 2016) children (and their mothers) with a clinica...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-019-03117-w
更新日期:2020-03-01 00:00:00
abstract:: ...
journal_title:Indian journal of pediatrics
pub_type: 信件
doi:10.1007/s12098-018-2700-6
更新日期:2018-11-01 00:00:00
abstract::This study was conducted in children under the age of four years for a period of one year. By domiciliary visits the diarrheal episodes were recorded, analysed and presented. The findings are based on the diarrheal experience of 4860 children. The attack rate was 2.6/child/year. Family with more than one child had mor...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02751121
更新日期:1991-03-01 00:00:00
abstract:OBJECTIVE:Screen for Child Anxiety Related Emotional Disorders (SCARED), a measure found useful in different settings and cultures has not been validated in the subcontinent. This study validated this measure for identifying Anxiety Disorder (AD) among adolescents in an Indian community context. METHODS:Five hundred a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1233-2
更新日期:2013-11-01 00:00:00
abstract::A focal outbreak of hepatitis was detected in a day-care centre for children centrally located in Pune. The source of infection was suspected to be an 11-year-old child who probably got the infection from his school. Seven out of 15 children from day-care centre developed clinical hepatitis. Two cases of secondary inf...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02730929
更新日期:1996-11-01 00:00:00
abstract::A cohort study at a tertiary care neonatal service was undertaken to determine the neurodevelopmental outcome of neonates who required intensive care. One hundred and nineteen nursery graduates were enrolled for follow up if they fulfilled any of the following risk factors: birth weight less than 1500 g, Apgar score l...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02831347
更新日期:1998-11-01 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::A young girl with an uncommon renal tumour is the subject of this communication. A diagnosis of renal cell carcinoma was established post-operatively. Combined modality treatment including chemotherapy and radiotherapy has helped achieve a disease free survival of nearly 5 years. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02761220
更新日期:1999-03-01 00:00:00
abstract::The present analytic study was planned to study the impact of overweight and obesity on glucose tolerance in adolescents. Thirty overweight (BMI analogue ≥ 25-29.9 kg/m(2)) and 30 obese (BMI analogue ≥ 30 kg/m(2)) adolescents were included as cases and 30 healthy age and sex matched adolescents comprised the contro...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0456-3
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVE:To predict the added value of diaphragmatic and lung ultrasound indices (US) in anticipation of the outcome of mechanical ventilation of pediatric patients in the intensive care unit. METHODS:This prospective study was conducted in Zagazig University, Pediatric Hospitals, PICU; Egypt. One hundred six mechani...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-019-03177-y
更新日期:2020-06-01 00:00:00
abstract:OBJECTIVES:To generate consensus on the assessment of hypotonia in the pediatric population, more specifically with respect to the clinical characteristics and first line tests and methods to be used to assess these characteristics. METHODS:Consensus methodology was used. A sample of experts was recruited based on spe...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1018-7
更新日期:2013-08-01 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::Pulmonary arterial hypertension in children can occur secondary to shunt lesion like ventricular septal defect, patent ductus arteriosus or it may be idiopathic, the so called primary pulmonary hypertension (PPH). The progression of PPH is usually rapid in children as compared to adults and the mean survival is 2-3 ye...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:2000-03-01 00:00:00
abstract:OBJECTIVE:To study the new ISPAE guidelines in neonates with congenital hypothyroidism and present authors' experience in managing these neonates. METHODS:A retrospective review of all babies who were screened for congenital hypothyroidism in the institution over a period of 5 y was conducted. Details pertaining to ma...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-020-03555-x
更新日期:2020-11-20 00:00:00