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 aminoaciduria. His diagnosis of hereditary tyrosinemia was established on findings of raised serum and urine succinylacetone and a deficient activity of fumaryl acetoacetate hydroxylase enzyme. Prenatal diagnosis of hereditary tyrosinemia was performed in a subsequent pregnancy in this family from India.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Bijarnia S,Puri RD,Ruel J,Gray GF,Jenkinson L,Verma ICdoi
10.1007/BF02820214keywords:
subject
Has Abstractpub_date
2006-02-01 00:00:00pages
163-5issue
2eissn
0019-5456issn
0973-7693journal_volume
73pub_type
杂志文章abstract:OBJECTIVE:To investigate correlations between anthropometrics and body composition with bone parameters of the whole-body and lumbar spine in non-obese and obese Thai female adolescents. METHODS:This study was performed in 135 female adolescents aged 15 to 18 y enrolled in secondary schools in southern Thailand. Subje...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-017-2422-1
更新日期:2017-12-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of early erythropoietin treatment on induction of erythropoiesis and the need for transfusion in Very Low Birth Weight (VLBW) infants with acute neonatal problems. METHODS:The study group consisted of 14 VLBW prematures with gestational ages less than 32 weeks who were given subcuta...
journal_title:Indian journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF02722624
更新日期:2002-05-01 00:00:00
abstract::Immunoglobulin isotypes (IgG, IgA, IgM, IgD, IgE) in serum were investigated in 64 Libyan children with mild to moderately severe asthma (age: 1-12 years; sex: 39 males, 25 females) (Group A) and in 57 healthy Libyan children (age: 1-12 years; sex: 30 males, 27 females (Group B). The patients were classified according...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02845519
更新日期:1999-05-01 00:00:00
abstract::In this study, 187 consecutive neonates suspected of having septicaemia were investigated for isolation of micro organisms. Two samples of blood were collected for isolation of aerobes and anaerobes. Cultures were positive in 75 (40%) cases. Aerobic bacteria were the major etiological agent, accounting for 93% of posi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02752342
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:Nasopharyngeal colonization of Haemophilus influenzae (H. influenzae) in young children may be important in developing countries. METHOD:In this study, we screened school going children for carriage of H. influenzae. A total of 44 H. influenzae isolates out of a collection of 162 were characterized for bioty...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723690
更新日期:2002-09-01 00:00:00
abstract::Primary vesicoureteric reflux (VUR) is the most common inherited structural urinary tract disorder, conforming closely to autosomal dominant transmission. A pair of monozygotic siblings is described exhibiting a remarkably parallel clinical course. VUR grade II was diagnosed in girl A during urinary tract infection at...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-008-0061-2
更新日期:2008-03-01 00:00:00
abstract::A 5-year-old child presented with the second episode of meningitis when we started investigating her to find a cause for recurrent episode of meningitis. During this she suffered from a third attack after which she was diagnosed as having isolated C(3) deficiency. She was put on penicillin prophylaxis and vaccinated a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0036-y
更新日期:2009-01-01 00:00:00
abstract::The renal tubule plays an important role in fluid and electrolyte homeostasis. Renal tubular disorders may affect multiple ( e.g., Fanconi syndrome) or specific (e.g., nephrogenic diabetes insipidus, renal glucosuria) tubular functions. Most conditions are primary and monogenic but occasionally are secondary to other ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02734150
更新日期:2005-09-01 00:00:00
abstract::The improvement in perinatal care has led to increase in survival as well as reduction of morbidity in sick newborns. These babies need to be followed up regularly to assess growth and neurodevelopmental outcome and for early stimulation and rehabilitation. We present a protocol describing the various components of a ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-008-0075-9
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVE:To compare the lipid profile of exclusively breastfed and mixed-fed, term, appropriate for gestation age infants from 6 mo to 1 y of age. METHODS:This prospective comparative study included one hundred ninety nine consecutive term healthy infants; 105 on exclusive breastfeeding (EBF) and 94 receiving mixed f...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1580-7
更新日期:2015-04-01 00:00:00
abstract::Most children tolerate the first-line antibiotics used to treat Mycobacterium tuberculosis (TB) very well. The most common adverse effect is gastrointestinal distress unrelated to hepatotoxicity; the latter is seen in less than 1% of children. Despite the infrequency of hepatotoxicity, the potential long-term impact o...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-019-02882-y
更新日期:2019-08-01 00:00:00
abstract::Kocher-Debre-Semelaigne syndrome is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report two cases of this syndrome in this communication. The first case was a seven-years-old female who presented with features of hypothyroidism and muscle pseudohypertrophy. The second child had s...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02724260
更新日期:2003-08-01 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::Glial choristoma is a developmental malformation of heterotopic central nervous tissue with limited growth potential. It is considered to be one of the very rare choristomatous lesions involving the oral cavity. This report details the morphological characteristics of glial choristoma arising from the palate in a newb...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722638
更新日期:2002-05-01 00:00:00
abstract::Acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) are disorders of pulmonary inflammation characterized by hypoxemia and respiratory failure. Children have varying incidence of ALI/ARDS from 2.2 to 16 per 100,000 pediatric population associated with high morbidity, mortality, and financial burden....
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0169-z
更新日期:2010-11-01 00:00:00
abstract::Naxos disease (OMIM 601214) characterized by wooly hair, palmoplantar keratoderma and dilated cardiomyopathy in two Indian children of the same family is described. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02825834
更新日期:2006-04-01 00:00:00
abstract::Among the 500 Down syndrome children karyotyped, 15 (3%) were due to translocation; 10 were 21;21 translocation and five 14;21. There were 9 cases of de novo translocations, while 6 were inherited from father or mother. Family history was characteristic in all the translocation cases, with younger parental age, fetal ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722100
更新日期:1990-03-01 00:00:00
abstract::Syndromic paucity of bile ducts or "Alagille syndrome" is characterized by peculiar facies, chronic cholestasis, posterior embryotoxon, butterfly-like vertebral arch defects and peripheral pulmonary artery hypoplasia or stenosis. We present a two-year-old female child with the 'partial' or 'incomplete' Alagille syndro...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02723701
更新日期:2002-09-01 00:00:00
abstract:OBJECTIVE:To estimate the prevalence of culture-confirmed cholera in patients with acute dehydrating diarrhea, at a tertiary care center in north India, during a 6-month period from March to August, 2006. METHODS:We studied 145 children, who presented to the pediatric emergency services of a tertiary care teaching hos...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0009-1
更新日期:2010-01-01 00:00:00
abstract::The post eighteen months have been exciting time for craniosynostosis research. In a rapid flurry of publications, mutations of fibroblast growth factor receptors (FGFRs) have been identified in three of the best known craniosynostosis syndromes, namely Apert, Crouzon and Pfeiffer syndromes, as well as in Jackson-Weis...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02751527
更新日期:1996-05-01 00:00:00
abstract:OBJECTIVES:To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. METHODS:The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral b...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-015-1929-6
更新日期:2016-05-01 00:00:00
abstract::Patent ductus arteriosus (PDA) is recognised more often with increasing survival of preterm babies. The pharmacological closure of ductus by indomethacin has changed the management of PDA. Twenty neonates admitted over a period of 21 months to Neonatal Intensive Care Unit (NICU) of M.S. Ramaiah Medical College hospita...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02726122
更新日期:1997-09-01 00:00:00
abstract::The clinical disappearance of the murmur of rheumatic mitral regurgitation after period of time has been documented by many researchers. However no studies have related the disappearance of the murmur with the functional or anatomical state of the mitral valve. This study was done to elucidate the mitral valve status ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02825126
更新日期:1995-11-01 00:00:00
abstract:: ...
journal_title:Indian journal of pediatrics
pub_type: 社论
doi:10.1007/s12098-017-2544-5
更新日期:2018-11-01 00:00:00
abstract::Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. The eye disease may be congenital amaurosis of Leber type or pigmentary retinal degeneration and electroretinogram (ERG) helps in the diagnosis of these varieties. The disease progresses inexorably to chroni...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02758316
更新日期:2006-11-01 00:00:00
abstract::Approximately 25,000 children develop multidrug-resistant (MDR) tuberculosis (TB) each year, but few of them are diagnosed and appropriately treated for MDR-TB. New diagnostic tools have improved our ability to diagnose children with bacteriologically confirmed TB earlier. However, the majority of childhood TB cases a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-018-02846-8
更新日期:2019-08-01 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::Ocular manifestations that occur directly or indirectly as result of a pathologic process that involves other parts of the body, in a pediatric population, will be discussed here. While a myriad number of systemic conditions have ocular manifestations, its importance cannot be undermined because it has implications fo...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2623-2
更新日期:2018-03-01 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::Hypoglycemia in a neonate is defined as blood sugar value below 40 mg/dL. It is commonly associated with a variety of neonatal conditions like prematurity, intrauterine growth restriction and maternal diabetes. Screening for hypoglycemia in high-risk situations is recommended. Supervised breast-feeding may be an initi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0175-1
更新日期:2010-10-01 00:00:00