Abstract：
:Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India. The aim was to study the clinical and molecular characteristics of patients suspected with SMA. It was a cross sectional study of 105 cases from January 2008 to August 2012. Patients demographic and presenting features and PCR findings were noted. 65 (62%) cases had a confirmed diagnosis of SMA. Werdnig Hoffman disease (SMA type I) was the commonest variant seen in 34 (52.3%) children. Molecular analysis demonstrated deletion of both exon 7 and 8 of SMN1 gene in 83.1% of cases.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Sheth J,Patel H,Mehta S,Tewari S,Sheth Fdoi
10.1007/s13312-013-0168-zsubject
Has Abstractpub_date
2013-06-08 00:00:00pages
591-3issue
6eissn
0019-6061issn
0974-7559pii
S097475591200843journal_volume
50pub_type
杂志文章abstract：OBJECTIVE:To observe the safety and efficacy of Colistimethate sodium in children infected with gram-negative bacteria, susceptible only to colistimethate sodium. METHODS:This prospective observational study done over 2 years observed children who received colistin for >48 h, for renal failure as defined by p-RIFLE cr...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-015-0586-1
更新日期：2015-02-01 00:00:00
abstract：:The Retinopathy of Prematurity (ROP) epidemic is no more confined to metro cities and has spread to interior states including Eastern India. There is hardly any published data available on the subject, including the incidence and profile of babies with ROP, screening experience with binocular indirect ophthalmoscope a...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2016-11-07 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：:We conducted this study to ascertain whether health workers can routinely administer verbal autopsy (VA) to determine the cause of death in their area. The health workers were trained to administer verbal autopsy tool on the deaths occurring in the population under them. All the verbal autopsies of under-five deaths b...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2003-08-01 00:00:00
abstract：OBJECTIVE:To study the association between common AIDS restriction genes and slow disease progression among perinatally-infected children in India. METHODS:ART-naïve children were identified and selected host factors including CCR5-∆32, SDF1-3'A, CCR5-59029G, HLA-B*27, B*57 were studied using allele-specific PCR-RFLP ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-014-0505-x
更新日期：2014-10-01 00:00:00
abstract：:A prospective study was performed on 44 patients (newborn to one year old) with acute bacterial meningitis. Sonograms were obtained within 72 hours of diagnosis, and repeated on 7th, 14th or at an early date, if required. The spectrum of sonographic features of meningitis included normal scan (35.4%), echogenic sulci ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1994-11-01 00:00:00
abstract：:Two hundred and forty four girls with different hemoglobin levels were selected, of which forty-one were non-anemic. The rest were graded as mildly, moderately or severely anemic and supplemented with 60 mg of iron daily or twice weekly for twelve weeks. There was no significant difference in the increase in hemoglobi...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2003-12-01 00:00:00
abstract：:A randomized double blind placebo controlled trial was carried out to study the effect of phenobarbitone (PB) in preventing recurrences of simple and atypical febrile convulsions among children in the age group 6 months to 6 years. Children with simple febrile convulsions were randomly allocated to receive either phen...
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：1993-05-01 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：:Salmonella senftenberg was isolated from the stools of 35 newborns between June, 1987 and September, 1988. Twenty nine (82.8%) babies were preterms and twenty six (74%) babies were less than 2,000 grams in weight. All of them were symptomatic within 6 days of life, 74.3% (26) within 4 days. All of them had loose stool...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1990-02-01 00:00:00
abstract：:We conducted this study to determine the fatty acid composition of breastmilk of Israeli women and compare it with baby milk substitutes. Samples of mature breast milk, from 29 lactating Israeli Jewish mothers were collected during feedings. Total milk lipids extracts were transmethylated and analyzed by using an impr...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-013-0277-8
更新日期：2013-11-08 00:00:00
abstract：:Pediatric statistics in a 50-year-old large hospital were analysed to find out any change in pediatric admission rate, morbidity and mortality and outcome of common disorders during the last four decades. Information was collected from four block years from each of the last four decades and compared. An increase of al...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1991-03-01 00:00:00
abstract：OBJECTIVE:To compare the rate of optimal position of UVC between modified Shukla's formula and JSS formula. METHODS:Babies requiring umbilical vein catheterization were randomized to either Shukla or JSS formula group. Post-procedure X-ray was taken to check the tip position. Tip of the UVC just above the diaphragm (T...
journal_title：Indian pediatrics
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2019-03-15 00:00:00
abstract：OBJECTIVE:To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. DESIGN:Descriptive study. SETTING:Tertiary-care medical genetics center. PATIENTS:Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypica...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2018-06-15 00:00:00
abstract：OBJECTIVE:To study the transcutaneous absorption of traditionally massaged oil in newborns and to specifically compare the effects of (i) essential fatty acid (EFA) rich - safflower oil and (ii) saturated fat rich coconut oil, on fatty acid profiles of massaged babies. DESIGN:A short term randomised controlled study. ...
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：2005-10-01 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 assess the safety and immunogenicity of a quadrivalent meningococcal (groups A,C,Y,W) polysaccharide diphtheria toxoid conjugate vaccine (MenACYW-DT) in India. DESIGN:Open-label, descriptive, non-randomized study. SETTING:Three medical college hospitals, one each in New Delhi, Bengaluru and Mumbai, India...
journal_title：Indian pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s13312-014-0435-7
更新日期：2014-06-01 00:00:00
abstract：JUSTIFICATION:Viral encephalitis is an important cause of mortality and morbidity in children. The etiological agents are varied, and physicians treating such children often feel limited by the lack of uniform guidelines on evaluation and management of these critically ill children in resource-constrained settings. PR...
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
abstract：OBJECTIVE:To compare the efficacy of phenobarbitone and phenytoin for treatment of neonatal seizures in term and near-term neonates. DESIGN:Open labeled randomized controlled trial. SETTING:Neonatal intensive care unit of a level II unit from India, from November 2008 to September 2009. PARTICIPANTS:All term and lat...
journal_title：Indian pediatrics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s13312-013-0218-6
更新日期：2013-08-01 00:00:00
abstract：OBJECTIVE:To compare the efficacy of crystalloid (Normal saline) and colloid (polymer from degraded Gelatin in saline Haemaccel) intravenous fluid in restoration of circulating volume in children with septic shock. DESIGN:Prospective, randomized, open-label trial. SETTING:Pediatric Emergency and Intensive Care Unit o...
journal_title：Indian pediatrics
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2005-03-01 00:00:00
abstract：:Hot water epilepsy (HWE) is a rare form of reflex epilepsy caused by bathing with hot water. In this paper, we describe three cases with hot water epilepsy. It occurs generally in children with normal psychomotor development and children continue to develop normally after seizure. HWE has usually a favorable prognosis...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2004-07-01 00:00:00
abstract：:There is a large child work force in India reported to be about 40 million. Child labor is being regarded as a form of modern slavery, as children are forced to work or have no choice to refuse work. Children are employed in a variety of occupations, many of which are hazardous. Exposure to machinery, pesticides, dust...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2019-08-15 00:00:00
abstract：OBJECTIVE:To assess the safety and reactogenecity of indigenously produced measles vaccine derived from EZ strain. DESIGN:A longitudinal clinical follow up after vaccination. SETTING:Hospital based and home follow up, as required. SUBJECTS:12,470 children, 9 to 15 months old, immunized with measles vaccine of EZ str...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1996-10-01 00:00:00
abstract：: ...
journal_title：Indian pediatrics
pub_type： 评论,信件
doi：
更新日期：2018-11-15 00:00:00
abstract：OBJECTIVE:To study the clinical and biochemical spectrum of Gaucher disease. DESIGN:Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis. SETTING:Hospital-based. SUBJECTS:Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1996-09-01 00:00:00
abstract：:Acute interstitial nephritis (AIN) should be ruled out in children with unexplained acute renal failure. We present a 4 1/2 year old girl who presented with oliguric acute renal failure preceded by a febrile illness. Renal histopathology revealed features of drug induced AIN. She recovered with dialysis, other support...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2003-04-01 00:00:00
abstract：BACKGROUND:E-type prostaglandins (PGE1) can effectively maintain the patency of the ductus arteriosus in neonates. Its use, therefore and be life saving in infants born with ductus dependent congenital heart disease. Although PGE1 is available for over two decade in western world, it has been introduced in India only s...
journal_title：Indian pediatrics
pub_type： 临床试验,杂志文章
doi：
更新日期：1998-11-01 00:00:00
abstract：OBJECTIVE:To compare the impact of postnatal lactational counseling on the weight gain and frequency of mixed feeding in full term neonates. DESIGN:Observational study. SETTING:Mother-infant pairs were observed in the maternity section of a multispecialty general hospital in Mumbai during two time periods. PARTICIPA...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-015-0678-y
更新日期：2015-07-01 00:00:00
abstract：:The clinical features and management of 22 cases with proptosis is highlighted. Proptosis was unilateral in fifteen and bilateral in seven cases. The common etiologic factors were neoplasms, infections and bleeding diatheses. Of the ten cases with neoplasms as many as 7 expired, whereas of nine cases due to infections...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
abstract：:There is a paucity of data on the incidence of sporadic viral hepatitis in Indian children. Clinical, biochemical and etiological profile of 54 patients with acute viral hepatitis was evaluated. Of these, 32 (59.25%) patients had Hepatitis A, 18 (33.33%) had NANB, 2 (3.7%) had Hepatitis B and 2 (3.7%) concurrent Hepat...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1992-05-01 00:00:00
