Abstract：
:The phenotypic description of SHORT syndrome (OMIM- 269880) is expanding since its initial description in 1975. There have been 26 case reports till date but the genetic locus of this syndrome is elusive. Involvement of PITX2 gene initially envisaged is probably is not the only gene involved but has an important role to play in ocular development. Our case did not demonstrate mutation in PITX2 gene. Here, we report a case of SHORT syndrome with two new unreported features deviated nasal septum and cryptorchidism and stress on lipodystrophy, a cardinal feature but not a part of the pneumonic SHORT.
journal_name
Indian Pediatrjournal_title
Indian pediatricsauthors
Singh A,Arora R,Singh P,Kapoor Sdoi
10.1007/s13312-013-0099-8subject
Has Abstractpub_date
2013-04-01 00:00:00pages
414-6issue
4eissn
0019-6061issn
0974-7559journal_volume
50pub_type
杂志文章abstract：OBJECTIVES:To generate evidence on the current situation of hospital care (emergency, inpatient and outpatient), for managing children presenting with diarrhea and pneumonia at 13 district hospitals in India. DESIGN:Facility-Based assessment of district hospitals. SETTINGS:13 district hospitals in four states of Biha...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2021-01-02 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：OBJECTIVE:To determine whether interactional group discussions could reduce prescriptions of injections by physicians. STUDY DESIGN:Randomized controlled trial. SETTING:Rural public health care facilities, North 24 Parganas district, West Bengal, India. SUBJECTS:72 medical officers, 36 each in intervention and contr...
journal_title：Indian pediatrics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s13312-010-0076-4
更新日期：2010-05-01 00:00:00
abstract：CONTEXT:Cryptosporidium spp. is a zoonotic infection, now being recognized as a significant cause of diarrhea in both immunocompetent and immunocompromised hosts. However, there still exist significant knowledge gaps in its estimated global burden, epidemiology, diagnosis and management. EVIDENCE ACQUISITION:A semi-sy...
journal_title：Indian pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s13312-017-1093-3
更新日期：2017-04-15 00:00:00
abstract：OBJECTIVE:To estimate the prevalence of Iodine Deficiency Disorders, and household consumption of adequately iodized salt in Damoh district, Madhya Pradesh in 2016. METHODS:Cross-sectional study with cluster sampling method was used among school-going children. 30 clusters, each with 90 children were selected to acces...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2018-07-15 00:00:00
abstract：OBJECTIVE:To determine the role of intravenous administration of human albumin prior to blood exchange in term neonates for reduction of total serum bilirubin (TSB). DESIGN:Randomized controlled trial. SETTING:Neonatal Unit of Nemazee Hospital, affiliated with Shiraz University of Medical Sciences, southern Iran. PA...
journal_title：Indian pediatrics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s13312-010-0046-x
更新日期：2010-03-01 00:00:00
abstract：:This paper explores the relationships between maternal weight, height and poor pregnancy outcome using a data set from a case-control study of low birth weight (LBW) and perinatal mortality in Ahmedabad, India. Maternal height and weights were compared between mothers of 611 perinatal deaths, 644 preterm-LBW, and 1465...
journal_title：Indian pediatrics
pub_type： 杂志文章,多中心研究
doi：
更新日期：1994-10-01 00:00:00
abstract：:There is little published literature from the third World countries that described the factors influencing survival of babies with esophageal atresia. We analysed 25 consecutive neonates treated for esophageal atresia. The overall survival rate was 36%. All 4 babies in Waterston Group A, 37.5% in Group B, and 15.4% in...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：OBJECTIVE:In Karnataka state, perinatal mortality rate is almost equal to infant mortality rate. This preliminary study was conducted in two districts of Karnataka to study potential problems to start of perinatal death audit. METHODS:Hospitals providing maternal and child health care services, which met study inclusi...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2020-11-15 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-010-0066-6
更新日期：2010-05-01 00:00:00
abstract：:This cross-sectional study was undertaken to compare WHO and Indian Academy of Pediatrics (IAP) recommended growth charts compiled by Agarwal. 2105 children aged less than 5 years, attending 132 Anganwadi centres in Mysore city, were included by simple random sampling method. Weight and height of all children were rec...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-012-0157-7
更新日期：2012-09-01 00:00:00
abstract：:The best known muscular dystrophies are X-linked dystrophinopathies. A clinically and genetically heterogeneous group presenting with weakness of the pelvic and shoulder girdles is that of the limb-girdle muscular dystrophies (LGMDs). Sarcoglycanopathies (SGPs) are autosomal recessive LGMDs. We report a rare case of p...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2003-11-01 00:00:00
abstract：OBJECTIVE:To study the incidence and risk factors predisposing to retinopathy of prematurity (ROP) and to assess the outcome after laser photocoagulation. DESIGN:Prospective cohort observational study. SETTING:Infants admitted to a neonatal intensive care unit of a referral hospital between 2000-2006 and followed up ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2009-03-01 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-013-0091-3
更新日期：2013-03-01 00:00:00
abstract：:Pediatric coronavirus disease-19 (COVID-19) infection is relatively mild when compared to adults, and children are reported to have a better prognosis. Mortality in children appears rare. Clinical features of COVID-19 in children include fever and cough, but a large proportion of infected children appears to be asympt...
journal_title：Indian pediatrics
pub_type： 杂志文章,评审
doi：
更新日期：2020-05-15 00:00:00
abstract：:A pilot study was undertaken to develop a feasible neonatal screening strategy for hemoglobinopathies. Isoelectric focusing using dried blood spots samples as a primary screening technique was standardized for the first time in India. The screened positives were confirmed by high performance liquid chromatography foll...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-02-01 00:00:00
abstract：BACKGROUND:Human trypansomiasis due to infection by animal trypanosomes is rarely reported from India. CASE CHARACTERISTICS:We describe clinical presentation of a 2-month-old boyfrom a rat infested house in rural Gujarat who was diagnosed to be havinginfection with the rodent parasite Trypanosoma lewisi. OBSERVATION:...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2018-01-15 00:00:00
abstract：OBJECTIVE:To evaluate simple clinical signs of illness in young infants (0 to 2 months) and to correlate with WHO IMCI algorithm (7 days-2 months). DESIGN:Prospective observational. Study conducted in the outpatient department and emergency room of a pediatric tertiary level hospital. METHODS:Four hundred and ninety ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2006-12-01 00:00:00
abstract：:Treatment of typhoid fever with furazolidone produces a high cure rate. This is a clinical curiosity, as furazolidone is described to be poorly absorbed. The present study examined whether furazolidone could produce unequivocal clinical response and, if so whether this was due to the drug producing bactericidal levels...
journal_title：Indian pediatrics
pub_type： 临床试验,杂志文章
doi：
更新日期：1995-05-01 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
abstract：:The study population included 110 term healthy small-for-gestational age (SGA) infants having a blood sugar of > 30 mg/dl at the age of < 30 minutes. They were randomized into two groups; (a) Group I (study group) received sugar-fortified milk formula and (b) Group II (control group) received standard milk formula. A ...
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：1992-11-01 00:00:00
abstract：: ...
journal_title：Indian pediatrics
pub_type： 信件
doi：
更新日期：2019-02-15 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2020-05-15 00:00:00
abstract：OBJECTIVE:To compare lipid parameters between diabetics and controls and to study association between metabolic control and lipid profile. METHODS:Lipid profile and HbA1c were measured (n=80, 39 boys) in diabetic children [age 10.7(3.4) y] and 54 controls, tests repeated after 1 year (in 45 diabetics). RESULTS:Diabet...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-016-0787-2
更新日期：2016-01-01 00:00:00
abstract：:Immune thrombocytopenic purpura (ITP) has witnessed many changes and updates over the past decade. The definitions of disease subtypes, course and response to treatment have all been standardized recently. Consequent to the lack of an international consensus management guideline, wide variations exist in treatment pra...
journal_title：Indian pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s13312-012-0195-1
更新日期：2012-10-01 00:00:00
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journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-017-1164-5
更新日期：2017-09-15 00:00:00
abstract：: ...
journal_title：Indian pediatrics
pub_type： 评论,杂志文章
doi：
更新日期：2019-09-15 00:00:00
abstract：:In this study, 78 middle ear aspiration samples from 59 children between the ages of 2 14 who have undergone myringotomy under general anesthesia were included. The presence of DNA genome of Chlamydia trachomatis was analyzed with polymerase chain reaction in the aspiration material. The relationship between the natur...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：2005-07-01 00:00:00
abstract：:The forced vital capacity, forced expiratory volume in one second, peak expiratory flow, mid-expiratory flow and maximum voluntary ventilation was measured in 632 healthy, normal children from Metropolitan city of Bombay using computerized spirometer. The children were between age range 6 years to 15 years and belong ...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：
更新日期：1995-02-01 00:00:00
abstract：BACKGROUND:Data on blood pressure recorded by oscillometric method is limited. OBJECTIVE:To develop simplified tables and charts of blood pressure recorded by oscillometric method in children. DESIGN:Cross-sectional. SETTING:Ballabhgarh, Haryana. PARTICIPANTS:Healthy school-children. MAIN OUTCOME MEASURES:Blood pr...
journal_title：Indian pediatrics
pub_type： 杂志文章
doi：10.1007/s13312-015-0749-0
更新日期：2015-11-01 00:00:00
