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 blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction. RESULTS:The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis. CONCLUSION:The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Silva-Grecco RL,Trovó-Marqui AB,Sousa TA,Croce LD,Balarin MAdoi
10.1007/s12098-015-1929-6subject
Has Abstractpub_date
2016-05-01 00:00:00pages
405-9issue
5eissn
0019-5456issn
0973-7693pii
10.1007/s12098-015-1929-6journal_volume
83pub_type
杂志文章abstract::With improved survival of very low birth infants in India, Retinopathy of Prematurity (ROP) is emerging as a significant problem. The most important risk factor in the pathogenesis of ROP is prematurity. Other factors like, problems with oxygenation frequent blood transfusions, sepsis and apnea have also been implicat...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-008-0011-z
更新日期:2008-01-01 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::Tuberculosis continues to be a major infectious cause of global morbidity and mortality, both in children and adults, in spite of widespread vaccination of infants with Bacille Calmette-Guerin (BCG) and the availability of effective antibiotics. The failure of BCG to significantly affect disease incidence in adults in...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:2000-02-01 00:00:00
abstract:OBJECTIVE:To identify the risk factors for small for gestational age (SGA) babies. METHODS:The present study was a nested case control study which was carried out by two Medical Officers of Health areas (The field level administrative unit responsible for provision of preventive and promotive health services) in Colom...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1382-y
更新日期:2014-10-01 00:00:00
abstract:OBJECTIVE:The present study was conducted to assess the utility of serum transferrin receptor (sTfR) and sTfR ferritin indices to differentiate ACD from IDA and also to diagnose coexisting IDA and ACD. METHODS:The study group comprised of 30 IDA patients, 30 cases of ACD and 30 age and sex matched controls. Complete h...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0302-z
更新日期:2010-02-01 00:00:00
abstract::Multidrug-resistant tuberculosis (MDR TB) has become a major global health concern and is also an issue in children. Children with MDR TB need longer duration of treatment with multiple drugs. The MDR TB treatment regimen usually comprises of a fluoroquinolone, an aminoglycoside, ethionamide, cycloserine, pyrazinamide...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-019-02923-6
更新日期:2019-08-01 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::This editorial provides information on the first draft of the human genome, and examines the impact this will have on the practice of medicine, with special reference to India. It examines what is currently possible in India, what we should do in the immediate future, and what is in store in the long run. The future i...
journal_title:Indian journal of pediatrics
pub_type: 社论
doi:10.1007/BF02726224
更新日期:2000-11-01 00:00:00
abstract::Since the classic description of this disease by Harold Hirschsprung's. In 1886 just over a century ago, there has been a marked evolution in the diagnostic modalities, understanding of the pathophysiology, unraveling of genetic association and the treatment approach of this disease. Recent research on the molecular b...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02758486
更新日期:2000-08-01 00:00:00
abstract:OBJECTIVE:To evaluate the epidemiology of rotavirus gastroenteritis in Haryana post-introduction of rotavirus vaccine. Expanded National rotavirus surveillance network in India reported high burden of rotavirus diarrhea in India. The Government of India introduced the monovalent rotavirus vaccine made in India by Bhara...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
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更新日期:2021-01-14 00:00:00
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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::Neonatal care has made tremendous improvements in developing countries. However there are number of challenges to be met and neonatal mortality remains unacceptably high. In contrast to this neonatal care in developed nations have moved ahead of a pre-occupation to reducing the neonatal mortality only. The main reason...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-007-0011-4
更新日期:2007-02-01 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::Malignant tumours of the chest wall are rare in the pediatric age group. Askin tumour, a primitive neuroectodermal tumour with aggressive nature, is extremely rare. Clinico-pathological features make it quite distinct from Ewing's sarcoma. Aggressive nature of the tumour results in short clinical presentation of the p...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02726235
更新日期:2000-11-01 00:00:00
abstract::The authors present 2 cases of dengue shock syndrome with unusual complications. In the first case, a 14-y-old boy with dengue shock syndrome who required aggressive fluid resuscitation, developed abdominal compartment syndrome (ACS). Patient developed severe shock, increased ventilator requirement and oliguria as a c...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0551-5
更新日期:2012-03-01 00:00:00
abstract:OBJECTIVES:To study the clinical profile and outcome of childhood tuberculosis treated with Directly Observed Treatment Short (DOTS) course regimen. Also to study the side effects of anti-tubercular treatment (ATT). METHODS:This prospective hospital based observational study was conducted at Department of Pediatrics, ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1175-8
更新日期:2014-01-01 00:00:00
abstract::This article is our life time experience in conceptualizing and systematically developing Child Development Centre (CDC) Kerala in the last 25 years, from a research project to a national training centre in child and adolescent development and premarital counseling. CDC Kerala's major contribution was in creating a 'c...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-016-2071-9
更新日期:2016-05-01 00:00:00
abstract:OBJECTIVE:The present study was conducted to evaluate pulmonary functions and develop prediction equations in Indian girls. METHODS:1038 normal healthy schoolgirls in the age group of 5 to 15 years were selected for the present study. The anthropometrical parameters like height, weight, sitting height and chest circum...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02830828
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVE:To determine the prooxidant-antioxidant balance (PAB) in neonatal asphyxia and compare it with values for PAB in healthy neonates. METHODS:In a prospective observational study, serum PAB of umbilical cord blood of 30 neonates with asphyxia [pH < 7.2, low Apgar score, signs of respiratory distress syndrome (R...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1239-9
更新日期:2014-03-01 00:00:00
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journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2680-6
更新日期:2018-11-01 00:00:00
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journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02725640
更新日期:2004-05-01 00:00:00
abstract::Assay of hexosaminidase A and B enzymes in four cases with developmental regression and cherry red spot on fundus examination confirmed that three cases had Tay-Sachs disease, and one case had Sandhoff disease. Prenatal diagnosis was carried out by hexosaminidase enzyme assay in amniotic fluid and cells in one family,...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02755072
更新日期:1995-07-01 00:00:00
abstract::We report here a 3 month old child with empyema thoracis, who developed complications of diaphragmatic palsy and Horner's syndrome. These complications of empyema thoracis have not been reported earlier. We discuss the possible mechanisms for these complications. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02859293
更新日期:2006-10-01 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::The aim of the study was to assess the functional aspects and the staffing at Pulse Polio immunisations posts. Interns and medical students conducted the survey in eighty seven pulse polio immunisation posts scattered all over National Capital Territory of Delhi on 18th January 1997. A pre-tested structured format con...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02730902
更新日期:1998-07-01 00:00:00
abstract::Protein energy malnutrition leading to growth failure is an inevitable consequence of chronic liver disease in childhood. Although the precise pathophysiology is not understood considerable progress has been made in understanding the mechanisms of fat malabsorption and protein turnover in liver disease. There are many...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02761872
更新日期:1995-09-01 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::Megaloblastic anemia (MA), in most instances in developing countries, results from deficiency of vitamin B(12) or folic acid. Over the last two to three decades, incidence of MA seems to be increasing. Of the two micronutrients, folic acid deficiency contributed to MA in a large majority of cases. Now deficiency of B(...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0121-2
更新日期:2010-07-01 00:00:00
abstract::Developmental co-ordination disorder (DCD) is a hidden complex childhood disorder seen in school aged children. There are only few Indian literatures supporting the prevalence of DCD among Indian school children but this current research has attempted to make a confirmatory diagnosis of DCD. Objective of the study was...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-020-03191-5
更新日期:2020-06-01 00:00:00
abstract::Advances in diagnosis and treatment along with improved supportive care have contributed to the current survival rates for pediatric malignancies. Recent concept of a truly "cured child" in pediatric oncology envisages not only a biological cure of the disease but a child on par with peers in growth and development ph...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723807
更新日期:2003-10-01 00:00:00