Jarcho-Levin syndrome.
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Abnormalities, Multiple↗
Biomedical subjects
I C Verma
Publications and source records attributed to I C Verma.
Probable breastmilk transmission of HIV to an infant.
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Acquired Immunodeficiency Syndrome↗
Phenotype of 49,XXYYY.
A 7-year-old boy with 49,XXYYY karyotype is reported. Physical examination revealed facial dysmorphism, mild microcephaly, limitation of supination at the elbows, delayed bone age and moderate mental retardation.
Child↗
International opinion survey for bioethics and medical genetics.
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Abortion, Eugenic↗
Serum protein polymorphisms and malaria in Madya Pradesh, India.
The relationship of serum protein polymorphisms to the presence of malaria antibodies was studied in 473 muria gond tribal subjects from Bastar district, Central India, an area endemic for both P. falciparum and P. vivax infection. A control group of 100 subjects in Delhi, which has a low prevalence of malaria, was also studied. Serum proteins (transferrin, haptoglobin and albumin) were analyzed for polymorphic variants by starch gel electrophoresis. Malarial antibodies were assayed by enzyme linked immunosorbent assay (ELISA), while thin blood films were screened for the presence of malaria parasites. Among serum proteins transferrin CD variant showed significant correlation with malarial infection. There were no significant differences observed between Hp1 and Hp2 variants of haptoglobin in relation to presence of malarial antibodies. Statistical analysis for albumin variants was not attempted because the number of individuals showing abnormal bands was small.
Adolescent↗
Antibiotic therapy for bacterial meningitis in children in developing countries.
We carried out a study to investigate the effectiveness of chloramphenicol alone as a treatment for bacterial meningitis. A total of 70 consecutive children aged > 3 months with bacterial meningitis, who had been admitted to the paediatric hospital of the All India Institute of Medical Sciences, were randomized to receive chloramphenicol alone or chloramphenicol + penicillin. The two groups were matched with each other. Treatment failure occurred with three (9%) patients in the chloramphenicol-alone group and with four (12.1%) patients in the combination therapy group (P > 0.05). The mean duration of intravenous therapy, the number of intravenous cannulae used per patient, and the incidence of thrombophlebitis were significantly higher for the group that received the combination therapy. Also, the cost of using chloramphenicol + penicillin was four times higher than that of chloramphenicol alone. Hence, chloramphenicol alone was as effective as chloramphenicol + penicillin and much cheaper and more convenient to use.
Child↗
Trichuris vulpis infection in an Indian tribal population.
Stools from 28 of the 82 inhabitants on remote Little Andaman Island in India were examined for parasite eggs and cysts. Trichuris trichiura eggs were found in 27, Trichuris vulpis eggs in 5, Strongyloides stercoralis larvae in 3, hookworm eggs in 15, Entamoeba histolytica and Entamoeba coli cysts each in 9, Giardia lamblia in 6, Retortamonas sp. in 3, Iodoamoeba sp. in 2, and Chilomastix sp. in 2 stools. Ascaris lumbricoides eggs were not seen. The occurrence of T. vulpis eggs in 5 stools and the absence of A. lumbricoides eggs were considered unusual findings.
Animals↗
Malaria and ABO blood groups.
Subjects from Muria gond tribal community (n = 258) as well as from Delhi (n = 100) were classified according to ABO blood groups, and were also assayed for malarial antibodies by ELISA technique. The distribution of ABO blood groups did not differ significantly in Muria gonds and Delhi subjects. Within Muria gonds the observed frequency of ABO blood groups did not differ significantly from the expected values. No significant difference was observed in the rate of seropositivity for malarial antibodies among subjects with different blood groups. Malarial parasitaemia, although observed more in individuals with blood group A, did not differ significantly as compared with other blood groups. We conclude that ABO blood groups do not show differential susceptibility to malaria.
ABO Blood-Group System↗
Congenital heart disease in Down syndrome: an echocardiographic study.
We evaluated the utility of echocardiography in assessing the frequency and nature of cardiac malformations in children with Down syndrome. Fifty cases of chromosomally proven Down syndrome were studied. A physical examination, electro cardiogram, radiograph of chest and two-dimensional echocardiography was performed on all patients. Twenty-two (44%) children had heart diseases. Endocardial-cushion-defect was the commonest anomaly, followed by ventricular septal defect. Three children with heart disease were asymptomatic and had normal X-ray films of chest and ECGs. The prevalence and specific type of congenital heart disease in this study is comparable to the studies using invasive means for diagnosis. The study further suggests that clinical examination of the cardiovascular system alone may not be sufficient in detecting heart disease. Two-dimensional echocardiography offers an excellent non-invasive tool for diagnosing cardiac malformations in Down syndrome.
Child↗
Interaction of malarial infection and glucose-6-phosphate dehydrogenase deficiency in Muria gonds of district Bastar, central India.
Muria gond tribals (n = 473) from district Bastar, central India, an area known to be hyperendemic for malaria, were investigated for malarial infection and glucose-6-phosphate dehydrogenase deficiency. The frequency of G-6-PD deficiency was 21.3% among male subjects and 3.7% among females. Assay of malarial antibodies showed that seropositivity as well as the level of antibodies was significantly higher in male subjects with normal enzyme levels as compared with males G-6-PD deficiency. Females with normal G-6-PD enzyme levels too had higher seropositivity as well as level of antibodies against malaria as compared with females having G-6-PD deficiency. This suggests that G-6-PD deficiency correlates with a higher degree of resistance.
Antibodies, Protozoan↗
Health effects of consanguinity in Pondicherry.
Of 1000 pregnant women studied, consanguinity was observed in 30.8%, with a higher frequency among women from rural areas, and among Hindus. In the consanguineous group, first cousin marriages were present in 47.4%, and uncle niece marriages in 23.4% of women. Coefficient of inbreeding was highest in Harijans (0.0258), followed by non-Brahmins (0.0220) and Brahmins (0.0204). Fertility was not influenced by consanguinity. There was a significantly higher rate of still births and infant mortality in consanguineous matings as compared with non-consanguineous. Total morbidity was higher in the consanguineous group as compared with the non-consanguineous (p less than 0.01), especially that due to neonatal infections and jaundice. There was no significant difference in the prevalence of congenital malformations, chromosomal and genetic disorders between the two groups, although the number of abnormal births in this group was small.
Consanguinity↗
Dengue haemorrhagic fever in children in Delhi.
An epidemic of dengue haemorrhagic fever occurred in Delhi during 1988. A total of 21 paediatric patients with dengue haemorrhagic fever/dengue shock syndrome were evaluated from September to November 1988. All the patients had fever, restlessness, ecchymotic spots and ascites. Pleural effusion occurred in 19 patients (90%), and 18 (86%) exhibited each of the following: vomiting, thrombocytopenia, and haemoconcentration. Hepatomegaly was observed in 15 patients (71%) and splenomegaly in three (14%). Titres of haemagglutination inhibition (HI) antibodies against dengue virus type 2 were raised in all the 15 cases from whom sera were collected during the acute stage. Convalescent sera from five patients had increased titres of HI antibodies to dengue virus type 2. The remaining 10 cases exhibited raised IgM antibody levels against dengue virus type 2. The fatality rate for serologically proven cases was 13% (2 of 15 patients), while for all patients (including those diagnosed clinically (6) and serologically (15)) it was 33.3% (7 of 21). Patients who survived had no sequelae, except one who had transient hypertension that lasted for two weeks.
Antibodies, Viral↗
Microphthalmos and anterior segment dysgenesis in a family.
An unusual sibship is described of a spectrum of microphthalmos associated with various degrees of anterior segment mesodermal dysgenesis ranging from partial sclerocornea to congenital anterior staphyloma. The possible embryologic significance of these anomalies manifesting together are discussed, along with the visual benefits which are sometimes surprisingly attainable in these usually hopeless eyes.
Adolescent↗
A profile of pyogenic meningitis in children.
Clinical profile of pyogenic meningitis was studied in 256 cases over a period of 8 years. The male to female ratio was 1.46: 1 and 83.6% of the patients were less than 3 years of age. Fever, altered sensorium, refusal to feed, convulsions and vomiting were the common presenting symptoms. Six (2.3%) of them had subnormal temperature and the sensorium was normal in 12.5% of cases. Cerebrospinal fluid was clear in 9.4%, cell count was less than 100/cmm in 8.2%, sugar was more than 40 mg% in 24.2% and protein was less than 50 mg% in 12.5% of cases. Diplococcus pneumoniae was the commonest causative agent. The overall mortality was 30.5%. It is concluded that young children suffering from this disease may not have the typical features and one should have the highest suspicion to make an early diagnosis so that the morbidity and mortality from this condition can be reduced.
Child, Preschool↗
Genetics in pediatric practice: an Indian perspective.
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Cytogenetics↗
Cytogenetic studies in Down syndrome.
Cytogenetic studies were carried out in 645 patients with Down syndrome. Free trisomy of chromosome 21 was present in 600 cases (93%). Translocation karyotypes were observed in 26 cases (4%). Seventeen patients (2.6%) had mosaicism. Two (0.3%) patients had additional karyotypic abnormalities along with trisomy 21.
Chromosome Aberrations↗
How long after being collected can blood still be cultured for chromosomal studies in the tropics.
To examine how long after their collection samples of peripheral blood could be successfully cultured for cytogenetic analysis in tropical countries, we determined the mitotic index in cultures of blood stored for up to 7 days in summer and winter. The results indicate that chromosomal analysis is successful if blood is stored for up to 2 days in summer or for up to 4 days in winter before initiating culture. Storing the blood in tissue culture medium rather than in heparin solution did not significantly improve the mitotic index.
Adult↗
Current method for first and second trimester prenatal diagnosis: transabdominal chorionic villi sampling.
Transabdominal CVS (chorionic villi sampling) was performed in 40 patients belonging to first or second trimester of pregnancy with 97.5% success, using a double and later single needle technique with no immediate complications. Karyotyping by direct method was successful in 75% of samples thus indicating the feasibility of cytogenetic analysis using villus tissue from first and second trimesters of pregnancy. It is a safe, simple, rapid and practical method of prenatal diagnosis in first and second trimesters of pregnancy with a potentially lower risk for fetal and maternal complications.
Chorionic Villi Sampling↗