Abstract：
OBJECTIVE:Gaucher disease in India has been reported only in a few case reports from India. The aim of the study was to assess the response to enzyme replacement therapy in Indian patients with Gaucher disease. DESIGN:Retrospective analysis of patients receiving CHO-derived recombinant macrophage-targetted glucocorebrosidase. SETTING:Five centers from India with experience in treating lysosomal storage disorders. PATIENTS:The diagnosis of Gaucher disease was confirmed by low glucocerebrosidase levels, though it was first made on splenectomy in 8 and on bone marrow examination in 9 patients. Twenty five of 52 patients diagnosed with Gaucher disease (17 Type I, 8 mild Type III) received treatment for >6 months. Indications for treatment included symptomatic anemia, thrombo-cytopenia, organomegaly, bone disease or mild neurological symptoms leading to impairment of quality of life. Patients with significant neurological involvement were excluded. The drug infusions were given intravenously every 15 days. MAIN OUTCOME MEASURES:Hemoglobin, platelet counts, liver and spleen volumes and growth parameters. RESULTS:22 of the 25 children who survived were analyzed. After 6 months of treatment, the mean (range) increase in hemoglobin was 1.5 (-3.4 to 6.1) g/dL (P=0.01) and in platelet count was 32 x 10(9)/L (-98.5 x 109 to 145.5 x10(9))/L (P=0.02). The mean (range) increase in weight was 3 kg (-5.6 to 10.5) (P=0.04) and in height was 7.1 cm (0 to 26.5) (P=0.0003). Liver size decreased by a mean (range) of 38.5% (- 5.5 to 86.7) (P=0.0003) and the spleen size by 34.8% (0 to 91.7) (P=0.004). All patients had improvement in bone pains and in 2 patients, neurological symptoms improved with others remaining static. CONCLUSIONS:This is the first reported cohort of patients in India reporting our experience with imiglucerase enzyme replacement therapy for treatment of Gaucher Disease in India.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Nagral A,Mewawalla P,Jagadeesh S,Kabra M,Phadke SR,Verma IC,Puri RD,Gupta N,Kishnani PS,Mistry PKdoi
10.1007/s13312-011-0128-4subject
Has Abstractpub_date
2011-10-01 00:00:00pages
779-84issue
10eissn
0019-6061issn
0974-7559journal_volume
48pub_type
杂志文章abstract：OBJECTIVE:To evaluate recovery and survival of severely wasted children without community management of acute malnutrition programme. DESIGN:Single time point follow-up (24th December 2013 - 2nd April, 2014) of severely wasted children identified in a community-based cross-sectional survey (September 2012 - October 20...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-017-1142-y
更新日期：2017-10-15 00:00:00
abstract：:We report on the etiology and the short term outcome (3 month) of children with acute renal failure (ARF) at a tertiary care centre in north India. Acute tubular necrosis was the commonest cause of ARF (33%) especially in children <5 years of age; while in children >10 years, glomerulonephritis was the commonest cause...
journal_title：Indian pediatrics
pub_type： 信件
doi：
更新日期：2011-06-01 00:00:00
abstract：BACKGROUND:Posterior reversible encephalopathy syndrome (PRES) is a benign disorder of reversible subcortical vasogenic cerebral edema. CASE CHARACTERISTICS:A 13-yr-old girl presented 4 days after complete recovery from diabetic ketoacidosis with symptoms of headache, altered sensorium, seizures, and visual loss. Ther...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2019-03-15 00:00:00
abstract：:Informed consent is a communication process of providing the patient/parents/guardians with relevant information regarding the treatment and the diagnosis, so that they can make informed decisions. The process of informed consent in pediatric patients is not well understood. The amount of information to be disclosed i...
journal_title：Indian pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s13312-010-0173-4
更新日期：2010-12-01 00:00:00
abstract：OBJECTIVE:To evaluate the current spectrum of hepatobiliary disorders in children in Northern India. SETTING:Tertiary level referral hospital. METHODS:All children with hepatobiliary disorders presenting between January 1992 through July 1995 were evaluated by clinical assessment, liver function tests, viral and auto...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1997-10-01 00:00:00
abstract：:We report on long-term follow-up [mean (SD) duration, 44.7 (4.3) mo] of 48 out of 132 children with recurrent abdominal pain, who were a part of an earlier study at our hospital. 31 (64.5%) children still experienced pain; 26 (54.1%) reported their pain to be better than before, 4 children reported it to be same as be...
journal_title：Indian pediatrics
pub_type： 信件
doi：
更新日期：2020-05-15 00:00:00
abstract：:Twenty children of acute viral hepatitis were subjected to ultrasound of gall bladder in acute and recovery phase. Increased wall thickness, reduced volume and abnormal echo-texture of gall bladder contents were the findings in the acute phase. A normal ultrasound of gall bladder was restored in most of the patients w...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1989-07-01 00:00:00
abstract：:We report an adolescent with recurrent bilateral parotitis with pneumoparotitis and subcutaneous emphysema due to self pneumoinsufflation by a Valsalva like maneuver. Investigations for recurrent parotitis did not yield any clue. His la belle indifference, prolonged school absence and the presence of sibling rivalry h...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2008-01-01 00:00:00
abstract：OBJECTIVE:To improve the rates of first hour initiation of breastfeeding in neonates born through cesarean section from 0 to 80% over 3 months through a quality improvement (QI) process. DESIGN:Quality improvement study. SETTING:Labor Room-Operation Theatre of a tertiary care hospital. PARTICIPANTS:Stable newborns ≥...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2018-09-15 00:00:00
abstract：OBJECTIVE:To evaluate endothelial function and arterial mechanics in apparently healthy overweight adolescents. DESIGN:Analytical observational study. SETTING:Tertiary hospital. METHODS:40 asymptomatic, normotensive and non-smoking adolescents (11 to 18 years old) were evaluated. Of these 20 were overweight or obese...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2004-11-01 00:00:00
abstract：:Two hundred and fifty eight newborn babies were studied for the presence of retinal hemorrhages between 1-3 days of birth. The overall incidence of retinal hemorrhages was found to be 18.9%. It was observed that the incidence of retinal hemorrhages was higher in unassisted vaginal deliveries than in assisted births. A...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1989-02-01 00:00:00
abstract：: ...
journal_title：Indian pediatrics
pub_type： 评论,社论
doi：
更新日期：2018-11-15 00:00:00
abstract：:The skinfold thickness (SFT) was measured in 750 Punjabi newborns at triceps and subscapular sites using a Harpenden's Caliper. It was correlated with various maternal and neonatal factors. SFT increased with increasing gestation but showed a decline after 40 weeks. There was a positive correlation of SFT with birth w...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1991-11-01 00:00:00
abstract：OBJECTIVE:To assess the levels of free oxygen radicals in acute renal failure and their predictive value in clinical outcome. DESIGN:Prospective. SETTING:Intensive care unit. METHODS:Study was conducted in 50 children (25 with acute renal failure and 25 age and sex matched controls). Blood urea, serum creatinine, se...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2000-02-01 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：BACKGROUND:GM1 gangliosidosis is a disorder due to GLB1 gene mutation. CASE CHARACTERISTICS:A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. OUTCOME:Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. MESSAGE:We hi...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-015-0593-2
更新日期：2015-02-01 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1993-06-01 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2003-10-01 00:00:00
abstract：:Psychosocial assessment was carried out in 35 children with acute lymphatic leukemic, an equal number with non-leukemic chronic illness and their parents. Psychological dysfunction existed more frequently in parents of leukemic children. Depression as an initial reaction on being conveyed the diagnosis, was seen in 85...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1992-08-01 00:00:00
abstract：:Antimicrobial resistance has become a global menace. As the resistance patterns and numbers are progressively increasing, it has become a major cause of morbidity and mortality in hospitalized patients, especially children. Efforts are being put world-over to curb the rising resistance by various means, especially by ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-016-0839-7
更新日期：2016-04-01 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2004-07-01 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 evaluate the efficacy and tolerability of intravenous fosphenytoin in children with status epilepticus, and resulting serum total phenytoin levels. METHODS:In this prospective study, 51 children aged less than 18 years received intravenous loading dose of fosphenytoin (18-20 mg/kg). Serum total phenytoin ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2020-03-15 00:00:00
abstract：:The retrospective study was carried out to examine performance of Pottels height- independent equation compared to Schwartzs height-dependent equation to estimate glomerular filtration rate in 115 children in Indian setting. The Pottels equation performed well compared to updated Schwartz equation (R2=0.94, mean bias ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-017-1001-x
更新日期：2017-01-15 00:00:00
abstract：OBJECTIVE:To evaluate the efficacy of the ketogenic diet in Indian children with uncontrolled epilepsy. STUDY DESIGN:Prospective observational study. SETTING:Hospital based. PATIENTS:105 children (age 4 months to 18 years) with uncontrolled epilepsy enrolled in the ketogenic diet program over a period of 9 years and...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2009-08-01 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1995-07-01 00:00:00
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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
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journal_title：Indian pediatrics
pub_type： 信件
doi：
更新日期：2011-12-01 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
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journal_title：Indian pediatrics
pub_type： 杂志文章,实务指引
doi：10.1007/s13312-012-0216-0
更新日期：2012-11-01 00:00:00
