Abstract:
:We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-Opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Cakir M,Mungan I,Makuloglu M,Okten Adoi
10.1007/BF02898455subject
Has Abstractpub_date
2006-08-01 00:00:00pages
731-3issue
8eissn
0019-5456issn
0973-7693journal_volume
73pub_type
杂志文章abstract::A 15-year-old boy presented to the emergency unit complaining of dyspnea, urticaria and vomiting developed after he fell down when he was playing football. Abdominal ultrasound showed a ruptured hydatid cyst in the right lobe of the liver which was of communicating type. Echinococcus granulosus serologic tests were po...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0011-7
更新日期:2009-03-01 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::The prevalence of DM is about 0.4/1000 children with a lower incidence in the rural areas. Children comprise 3-5% of the total diabetics. A study of 55 pediatric cases of DM (1980-84) showed that only 22 (40%) had ketoacidosis on admission. Ten (18.2%) had onset of illness before 4 years of age. HLA antigen studies in...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02776461
更新日期:1989-11-01 00:00:00
abstract:OBJECTIVE:To find out the incidence and natural history of IgMN in India. METHODS:Renal biopsies of children ≤12 y age of last 6 y were retrospectively evaluated. Their clinical and biochemical presentation were correlated. Patients with systemic diseases/disorders were excluded from the study. RESULTS:Immunoglobulin...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-012-0693-0
更新日期:2012-08-01 00:00:00
abstract::The authors describe a new case of the split notochord syndrome (SNS) with dorsal enteric fistula in an eight-month-old-boy. The child had also central nervous system anomalies including dysgenetic corpus callosum, absence of septum pellucidum, triventricular hydrocephalus, small posterior fossa, and lipomyelomeningoc...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722716
更新日期:2002-08-01 00:00:00
abstract::Immune reconstitution syndrome (IRS) is the transient worsening or appearance of new signs, symptoms or radiological manifestation of an opportunistic infection occurring after the initiation of Highly active antiretroviral therapy (HAART) and is not due to treatment failure or new infection. We describe a case of a H...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02759931
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:To compare the incidence of hyponatremia during the first 48 h in hospitalized children receiving normal saline vs. N/2 saline as maintenance intravenous fluid. METHODS:This open label, randomized controlled trial to compare the incidence of hyponatremia in hospitalized children receiving normal saline (0.9%...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,随机对照试验
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abstract::This article reviews the various aspect of the experimental phase preceding the establishment of an umbilical cord blood (UCB) bank within a regular blood bank, a situation totally different from that of de novo establishing a cord blood bank having human and financial resources. An ethically approved two-year study h...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02723589
更新日期:2003-04-01 00:00:00
abstract::Two hundred and forty two mothers in 7 villages of Narayanganj district, Bangladesh were interviewed to assess their knowledge and attitude regarding breastfeeding and weaning using pretested questionnaires, though 83.5% mothers knew that colostrum is good for the child, less than 8 percent of them gave it as the firs...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02752329
更新日期:1995-03-01 00:00:00
abstract::Growth monitoring and nutritional assessment, as means to detect malnutrition, are 2 different types of programs in terms of conception, purposes, and execution. Growth monitoring starts as detection of malnutrition, then acts through prevention by communication to mothers, and finally utilizes community participatio...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02810383
更新日期:1988-01-01 00:00:00
abstract::The Integrated Child Development Services (ICDS) scheme is the largest program for promotion of maternal and child health and nutrition not only in India but in the whole world. The scheme was launched in 1975 in pursuance of the National Policy for Children. The scheme has expanded in the last twenty-seven years form...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722688
更新日期:2002-07-01 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::Helicobacter pylori is one of the commonest bacterial pathogens in human. The organism is associated with development of peptic ulcer diseases, lymphoproliferative disorders and gastric cancer. Residence in a developing country, poor socio-economic conditions and genetic predisposition are regarded as risk factors. Pr...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-007-0046-6
更新日期:2007-03-01 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:OBJECTIVES:To retrospectively assess growth of children with congenital adrenal hyperplasia (CAH) with special reference to puberty and to assess longitudinal growth and final height of subset of children with CAH. METHODS:A retrospective analysis of 30 children (14 boys) with classic CAH (11 salt wasters, 19 simple v...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2753-6
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVE:To investigate and simplify the gonadotropin-releasing hormone (GnRH) stimulation test for assessing pubertal activation and suppression. METHODS:The authors identified 72 girls diagnosed with central precocious puberty who were treated with a GnRH analogue (GnRHa). Patients who underwent an assessment regar...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-015-1761-z
更新日期:2015-11-01 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 compare the efficacy of all types of spacers commonly available to children in India. METHODS:150 children 5-14 yr of age with persistent asthma presenting with peak expiratory flow (PEF) < 70% of personal best were randomized to receive 200 mg salbutamol through one of five spacers: A) 750 ml spacer with...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s12098-007-0112-0
更新日期:2007-07-01 00:00:00
abstract:OBJECTIVE:To compare tympanic membrane temperature and rectal temperature in febrile pediatric patients. METHODS:Sixty febrile children were enrolled as continuous enrollment at initial triage. Two readings of ear temperature were taken in each child with Thermoscan infrared thermometer. Rectal temperature was recorde...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723215
更新日期:2002-04-01 00:00:00
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journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0120-3
更新日期:2009-08-01 00:00:00
abstract::Treatment with tyrosine kinase inhibitors (TKI) is an effective therapy for children and adolescents with chronic phase of chronic myeloid leukemia (CML). For the majority of patients with CML in low- and middle-income countries (LMIC), imatinib is the TKI of choice for reasons of cost, availability, and experience. C...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-020-03234-x
更新日期:2020-06-01 00:00:00
abstract::Gastroesophageal reflux (GOR) is a major cause of morbidity and failure to thrive particularly in neurologically impaired children. Clinical manifestations of GOR in children range from regurgitation, food refusal, irritability, failure to thrive, hematemesis, wheezing and aspiration pneumonia, apnoea and apparent lif...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:To review contemporary guidelines and therapies for pediatric cardiac arrest and discuss potential novel therapies. METHODS:Key articles and guidelines in the field were reviewed along with recent publications in the fields of neurointensive care and neuroscience germane to cerebral resuscitation. RESULTS:A...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-008-0117-3
更新日期:2008-06-01 00:00:00
abstract::Locked-in syndrome is characterized by upper motor neuron quadriplegia, paralysis of lower cranial nerves, bilateral horizontal gaze palsy and anarthria, with preserved consciousness. It is due to a ventral pontine lesion following a basilar artery occlusion. We report the first Indian case report of locked-in syndrom...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0200-4
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVE:To quantitatively summarize the evidence from observational studies on the relation between pediatric asthma and food allergy. METHODS:A literature search was conducted in Medline and EMBASE (August 2016). Two independent reviewers appraised the studies and extracted the estimates of interest. Methodological...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,meta分析
doi:10.1007/s12098-017-2326-0
更新日期:2017-08-01 00:00:00
abstract::With the rising prevalence of childhood obesity, pediatricians are increasingly called upon to treat clinically overweight children. The primary treatment options are behavioral lifestyle modification, pharmacotherapy, and surgery. The cornerstone of childhood obesity treatment is lifestyle modification and has been s...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-012-0766-0
更新日期:2013-03-01 00:00:00
abstract::Multiple choice questions have come to occupy a prominent place in the evaluation system of medical education. However the framing of multiple choice questions and their effective use need further clarification in the Indian context. This paper outlines some of the steps that may be adopted for streamlining the prepar...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02749710
更新日期:1989-01-01 00:00:00
abstract::Tetanus is still an important cause of morbidity and mortality in developing countries. Fifty two patients with tetanus were admitted within a 15 year period to our hospital, and 24 of them died. The remaining cases were called for re-evaluation 3-13 years after the infection. Only 10 cases were admitted again, and 6 ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02752221
更新日期:1994-05-01 00:00:00
abstract::A case of neonatal Bartter syndrome is reported. The baby born pre-term following a pregnancy complicated by polyhydramnios, presented at 7 months of age with failure to thrive, gastroenteritis and facial dysmorphisms. An unusual feature was the absence of the classical biochemical abnormality of hypochloremic alkalos...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723788
更新日期:2002-01-01 00:00:00
abstract::Bronchopulmonary dysplasia (BPD) is a chronic lung disease associated with premature birth and characterized by early lung injury. Over the past 4 decades, there have been significant changes in its definition, pathology and radiological findings as well as management of BPD. Management of the acute phase and later st...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-007-0032-z
更新日期:2007-01-01 00:00:00