Abstract:
:Genetic counseling is a process of communicating medical aspects about a genetic disorder, especially the information regarding risk of occurrence as recurrence of the disease in the family and preventive options. Accurate diagnosis of the affected member is of paramount importance for genetic counseling. Special genetic investigations like DNA analysis and chromosomal analysis are essential for many cases and especially when prenatal diagnosis is necessary. It is essential for pediatricians to identify cases with genetic disorders or possibly genetic disorders. These cases should be adequately worked up to identify accurate etiology as far as possible. The investigations should be done even if they are not going to make any difference in the outcome of the child. The genetic disorders present not only in neonates, but also in children, stillbirths and fetuses. Hence, autopsy of stillbirth and fetuses terminated after prenatal diagnosis is essential for genetic counseling. The importance of genetic counseling as an integral part of management of genetic disorders has to be realized by all clinicians. Pediatricians with short training can take over the responsibility of providing counseling for common genetic disorders and may need to refer others to genetic centre for counseling and prenatal diagnosis.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Phadke SRdoi
10.1007/BF02723098keywords:
subject
Has Abstractpub_date
2004-02-01 00:00:00pages
151-6issue
2eissn
0019-5456issn
0973-7693journal_volume
71pub_type
杂志文章,评审abstract::Forty children aged 5 months to 3 years and suffering from wheezy baby syndrome (WBS) were evaluated to find out the prevalence of neonatal meconium aspiration syndrome (MAS) from the birth records. Twelve (30%) babies with WBS were detected to have a history of MAS at birth, significant enough to require a neonatal I...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02750935
更新日期:1991-07-01 00:00:00
abstract::There is increased interest in the surgical management of epilepsy in children in the last decade or two. The plasticity of the developing brain and realization of the deleterious effects of uncontrolled seizures on the brain have prompted earlier surgery where indicated. All patients with uncontrolled partial seizure...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:2000-01-01 00:00:00
abstract::This study reports the clinical picture and measles virus antibody titres in 32 patients with cases of suspected subacute sclerosing panencephalitis (SSPE). The history of myoclonic jerks, mental regression, inability to walk and slurred speech, were noted in these cases. The EEG showed generalised periodic complexes ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02825445
更新日期:1991-11-01 00:00:00
abstract::Asthma is fairly common in pediatric age group and the suffering due to asthma continues to increase despite excellent treatments available. One of the four major components of asthma management is patient education and is critical to the success of asthma management. Reasons for continued suffering include that our m...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,病人教育讲义,评审
doi:
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVE:To determine the sociodemographic and clinical factors leading to stress among parents whose children are admitted in pediatric intensive care unit (PICU). METHODS:A prospective observational study was conducted in PICU of a tertiary care hospital of north India. Parents of children admitted to PICU for at l...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1415-6
更新日期:2014-11-01 00:00:00
abstract::Systemic hypertension is not usually a complication following repair of total anomalous pulmonary venous connection (TAPVC). We report an infant with supracardiac TAPVC with hypertensive crises post-operatively resulting in pulmonary edema. We feel this might have been related to the pre-operative hemodynamics as desc...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0150-x
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVE:To find out correlation between serum anti-tissue transglutaminase immunoglobulin-A (tTGA) levels and Marsh grading on duodenal histopathology in Celiac disease (CD). METHODS:In a prospective cohort study, a total of 52 symptomatic patients between age group of 2-18 y were enroled. All enroled patients were ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-017-2323-3
更新日期:2017-07-01 00:00:00
abstract::Hirschsprung disease is a common cause of neonatal and infantile large gut obstruction. It is characterised by varying extent of contiguous aganglionosis extending from the anorectum proximally. Since its recognition, the diagnosis and management has continuously evolved with advances in histological evaluation and su...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-017-2371-8
更新日期:2017-08-01 00:00:00
abstract::We studied 289 newborn infants from birth till one year of age. Low birth weight babies (less than 2.5 kg) were 52.9%. Boys suffered 9.7 episodes of sickness, and girls 8.6 episodes of sickness. The mean episodes of various sicknesses, and their impact on weight gain, feeding pattern and growth pattern are discussed. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02726615
更新日期:1989-03-01 00:00:00
abstract::A 5-year-old child presented with the second episode of meningitis when we started investigating her to find a cause for recurrent episode of meningitis. During this she suffered from a third attack after which she was diagnosed as having isolated C(3) deficiency. She was put on penicillin prophylaxis and vaccinated a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0036-y
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To assess the prevalence of thinness among 2-6 year old children of Integrated Child Development Services (ICDS) Scheme Bali-Gram Panchayat, Hooghly, West Bengal, India. METHODS:Height and weight measurements were taken. The body mass index (BMI) was computed. The new international cut-off points classificat...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0178-y
更新日期:2009-08-01 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::Patients infected with the human immunodeficiency virus (HIV) commonly experience diarrhea at some time during their illness. A variety of enteric pathogens are identified in 50-80% of these patients, depending on the intensity of the diagnostic work-up that is done. In addition to the common enteric pathogens, severa...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02752359
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:To evaluate all steps of pulse polio immunization on special sub national immunization day. METHODS:On a sub-national immunization day (SNID), 120 booths were randomly selected from 662 booths by probability proportionate to size (PPS) sampling technique. RESULTS:It was observed that attendance in the distr...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0025-1
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To document the immunization rates, factors associated with incomplete immunization, and missed opportunities for immunizations in children affected by HIV presenting for routine outpatient follow-up. METHODS:A cross-sectional study of immunization status of children affected by HIV presenting for routine ou...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1049-0
更新日期:2014-09-01 00:00:00
abstract::Sore throat is one of the common reasons for outpatient and emergency visits among children. It could be because of several etiologies; of these bacterial pharyngitis is the most important. Major challenge for the clinician is to diagnose group A beta hemolytic streptococcus (GABHS) pharyngitis and diphtheria, which a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-011-0467-0
更新日期:2011-10-01 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::The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl pres...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02724084
更新日期:2005-08-01 00:00:00
abstract::A 29 day old male infant presented with a history of fever, cough, increasing respiratory distress and abdominal distension from the 10th day of life. Examination revealed failure to thrive, marked tachypnea, pallor, hepatosplenomegaly and harsh vesicular breath sounds. Chest skiagram showed extensive broncho-pneumoni...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02752376
更新日期:1999-01-01 00:00:00
abstract::Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by ectopic bone formation involving the connective tissues leading to severe skeletal manifestations. The genetic defect in this disorder has not been characterized in Indian patients till date. The authors report three cases of FOP a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1117-5
更新日期:2014-06-01 00:00:00
abstract::Iron overload is a serious and potentially fatal condition that results from multiple blood transfusions required over a long period of time to treat certain types of anemias such as, that caused by beta-thalassemia, sickle cell disease and myelodysplastic syndrome. Deferoxamine, which has been used since four decades...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-010-0030-4
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVES:The authors measured and recorded the physical (outdoor playing) and mental (home study) activity behavior and blood pressure amongst school going children and observed their association with the blood pressure levels. METHOD:It was a cross sectional school-based study from 12 primary schools; selected by s...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/BF02724095
更新日期:2004-04-01 00:00:00
abstract:OBJECTIVES:To establish a technique for mutation identification and prenatal screening in confirmed cases of Canavan disease. METHOD:Mutations in ASPA gene were identified by sequencing. Six exons of ASPA gene were amplified using intronic primers flanking the exons and then sequenced on ABI 3500Dx automated unit. Thi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-012-0862-1
更新日期:2013-01-01 00:00:00
abstract::Ocular manifestations that occur directly or indirectly as result of a pathologic process that involves other parts of the body, in a pediatric population, will be discussed here. While a myriad number of systemic conditions have ocular manifestations, its importance cannot be undermined because it has implications fo...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2623-2
更新日期:2018-03-01 00:00:00
abstract:OBJECTIVES:To study the duration of the peripheral venous catheter access and the effect of variables such as intravenous fluid, medications and blood products on the life span of the catheter in authors' pediatric intensive care unit. METHODS:All peripheral intravenous lines established in sick children aged 1 mo to ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1430-7
更新日期:2014-12-01 00:00:00
abstract::A comparison of mortality and morbidity pattern of hospital admissions of children under 14 years during 1966-68 and 1977-81 has been made. Annual admission rate has increased from 1515 to 2515, which is in proportion to the population increase of 3 lacs from 1966 to 1981. Recently more than 70% were discharged within...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02726772
更新日期:1990-07-01 00:00:00
abstract::Antimicrobial resistance is a key factor leading to emerging/ re-emerging infections. Rational antimicrobial therapy or antimicrobial stewardship is one of the important interventions to prevent emergence of resistance. Choosing correct empiric therapy is crucial not only to prevent antimicrobial resistance but also t...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-019-03144-7
更新日期:2020-11-01 00:00:00
abstract::Functional follicular ovarian cysts are frequently reported in girls with peripheral precocious puberty (PP). These cysts are usually self-limiting and resolve spontaneously. Several drugs like antiestrogens (tamoxifen) and new aromatase inhibitors are seldom used for treatment. Here we report a girl with peripheral P...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0190-2
更新日期:2009-09-01 00:00:00
abstract::Growth monitoring programs are often considered failures. These failures often stem from a lack of understanding of program implementation. The 10 most common pitfalls of the system are listed as follows: 1) Health workers tend to desire a diagnostic curative approach to malnutrition where Growth Monitoring and Pre...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02810384
更新日期:1988-01-01 00:00:00
abstract::Castleman's disease is an atypical lymphoproliferative disorder having two types of presentation--the localized and the multicentric form. The localized form presents as a slowly growing mass with a relatively benign course. Multicentric Castleman's disease has a more aggressive clinical course with diffuse lymph node...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-007-0210-z
更新日期:2007-12-01 00:00:00