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Biomedical subjects

I C Verma

Publications and source records attributed to I C Verma.

At least 55 records · Page 3Linked to original sources
PubMed1996

Karyotyping of at risk fetuses by cordocentesis in advanced gestation.

Fetal blood obtained by cordocentesis was cultured to obtain rapid karyotypes of fetuses at risk during the late second trimester. Ninety nine fetal blood samples were studied for chromosomal abnormalities. The commonest indications for the procedure were abnormalities detected on ultrasonography (47.7%), and previous child with Down syndrome. Analysis of the 67 successful cultures showed four (5.9%) karyotypic abnormalities. The technique proved helpful in the obstetrical management of at risk fetuses.

Adult↗
PubMed1996

Delta F 508 molecular mutation in Indian children with cystic fibrosis.

A preliminary report of 13 Indian children with cystic fibrosis who were screened for the commonest mutation (delta F 508) is presented. Six (46%) patients were homozygous for delta F 508, while two patients were compound heterozygotes. Thus 14 (53.8%) of 26 mutant chromosomes had delta F 508 mutation. These findings confirm that cystic fibrosis occurs in India and all children with persistent respiratory problems and/or malabsorption should be screened for this disease.

Child↗
PubMed1996

Clinical and enzyme studies in Gaucher disease.

OBJECTIVE: To study the clinical and biochemical spectrum of Gaucher disease. DESIGN: Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis. SETTING: Hospital-based. SUBJECTS: Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay. RESULTS: The enzyme beta-glucosidase was 0.65 nmol/h/mg of protein or less in all the cases in Delhi, and 2.5 nmol/h/mg of protein or less in Bombay. All cases except one belonged to type 1 (hepatosplenomegaly), while one case was of type 2 (neuronopathic). Prenatal diagnosis was carried out in one family and the fetus was found to be affected. CONCLUSION: In children with hepatosplenomegaly and increased acid phosphatase, assay of beta-glucosidase enzyme confirms the diagnosis of Gaucher disease. Diagnosis of the disease is important because enzyme replacement therapy is available and prenatal diagnosis is possible.

Child↗
PubMed1996

Cytogenetic studies in ataxia telangiectasia & their use in prenatal diagnosis.

Cytogenetic studies were carried out in obligate ataxia telangiectasia (AT) heterozygotes, AT homozygotes and control subjects. Rate of chromosomal aberrations and the frequency of micronuclei were examined before and after radiation (100 rads). Significant differences in the rate of chromosomal aberrations and micronuclei were observed among heterozygotes, homozygotes and controls. The same methods were then applied for prenatal diagnosis of AT using amniotic cell culture in two families.

Ataxia Telangiectasia↗
PubMed1995

Juvenile chronic myelocytic leukemia--report of 10 cases.

Ten children (five boys and five girls) with juvenile chronic myelocytic leukemia were seen over a period of 12 years (1980-1991) at the All India Institute of Medical Sciences, New Delhi. With the exception of one who was aged 4.5 years, all children were below 4 years of age (mean age 20.4 months). The presenting features included fever, bleeding secondary to thrombocytopenia, marked hepatosplenomegaly, and skin rash. The striking hematological features were anemia, thrombocytopenia, peripheral blood monocytosis, and normoblastemia. There was no significant myeloid proliferation in the bone marrow aspirate (mean M:E = 5:1), while erythroid proliferation was prominent along with monocytosis (mean 11.2%). Fetal hemoglobin was raised in 8 of the 10 patients (mean 14.1%). Long-term survival was poor, with maximum survival being 18 months in one case. New modalities of management of this rare entity are discussed.

Child, Preschool↗
PubMed1995

Guidelines for optimal medical care of persons with Down syndrome. International League of Societies for Persons with Mental Handicap (ILSMH).

There are numerous clinical conditions observed in persons with Down syndrome, as described above, which should be taken into consideration in the course of their medical care and management. If provided with optimal medical services, pursuing specific evaluations and examinations, with a focus on preventive aspects and fostering well being in all areas of human functioning, the quality of life of individuals with Down syndrome can be enhanced significantly and their contribution to society substantial.

Adolescent↗
PubMed1995

A clinical and cytogenetic study of Turner syndrome.

Forty five case of Turner syndrome diagnosed in the Genetics Clinic, between January 1986 and December 1993, were analyzed. The most commonly observed karyotype was 45, X (44.4%), followed by 45, X/46, XX mosaicism (24.4%). Less frequently demonstrated karyotypes were 45, X/46, X, i (Xq) mosaicism and 46, X, i (Xq) (13.3%). Mosaicism for chromosome was seen in 6.7% of patients. Patients with 45, X karyotype had short stature (85%), dysmorphic facies (60%), delayed appearance of secondary sexual characters (100%) and primary amennorhea (100%). Those with 45, X/46, XX mosaicism were less often dysmorphic and presented with either primary or secondary amenorrhea. Patients with 45, X karyotype were younger at diagnosis and had a significantly shorter mean adult height than those with 45, X/46, XX mosaicism. The phenotype in patients with other karyotypic abnormalities was similar to the 45, X group. Short stature and primary or secondary amenorrhea occurring together in a female strongly suggests the possibility of Turner syndrome, which should be confirmed by chromosomal analysis.

Adolescent↗
PubMed1995

Denys-Drash syndrome.

Explore the source record for details and available documents.

Disorders of Sex Development↗
PubMed1995

Clinical and biochemical studies in homocystinuria.

Homocystinuria was diagnosed in 15 (0.59%) cases on screening 2560 children for aminoacidopathies. The commonest presenting features were ectopia lentis (95%) and mental retardation (86%). Other features included, dental anomalies (40%), osteoporosis (40%), behavioral problems (33%) and arachnodactyly (13%). Diagnosis was confirmed by iodoplatinate staining of one dimensional paper chromatography of urine. All the 15 cases of homocystinuria were first treated with high dose oral pyridoxine. Only one case responded to pyridoxine therapy. All the other patients were started on a low methionine, High cysteine diet with folate supplementation. Only one patient showed a complete response to dietary therapy. Nonavailability and high cost of the commercially available methionine-free, cysteine-supplemented diet and late diagnosis were responsible for the poor response in the majority of our patients.

Child↗
PubMed1994

Poland anomaly with unusual associated anomalies: case report of an apparent disorganized defect.

We report on a 2 1/2-year-old boy with absence of clavicular head of pectoralis major on the left side, ipsilateral upper limb anomalies, and anomalies of the lower limbs such as popliteal webbing, median cleft of right foot, bifid left hallux, syndactyly of toes, and toenail hypoplasia. Other anomalies included undescended testis, hairy nevus in the lumbosacral region, and a pedunculated finger-like tag on the right thigh. The pathogenesis of these associated anomalies cannot be explained on the basis of compromised local blood supply alone. A possible link with the disorganization mutation is discussed.

Abnormalities, Multiple↗
PubMed1994

Inborn errors of amino acid metabolism in north India.

We screened 2560 referred cases for inborn errors of amino acid metabolism by chemical tests and thin-layer chromatography of urine/plasma. In 62(2.4%) cases, eleven inherited Mendelian disorders of amino acids were identified. The four commonest disorders were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic hyperglycinaemia. Ornithinaemia was detected in two cases (0.08%), and phenylketonuria and cystinuria in two cases each (0.08%). Generalized hyperaminoacidurias were found in 90 (3.52%) subjects. The frequency pattern of the various amino acid disorders in North India was found to be remarkably different from that observed in the West.

Amino Acid Metabolism, Inborn Errors↗
PubMed1994

Congenital absence of both fibulae in four siblings.

Fibular agenesis/hypoplasia is the most common reduction malformation affecting the long bones. Agenesis of both the fibulae, however, is rare, and its occurrence in four consecutive pregnancies has not been reported so far. We report our experience with one such case.

Adult↗
PubMed1994

Group B meningococcal meningitis in India.

The first case of infection with Group B meningococcus in India is reported. The patient was a 4-month-old boy who presented with meningitis and died within 6 h of admission. Gram stain of CSF showed meningococci and latex particle agglutination test on CSF was strongly positive for Neisseria meningitidis serogroup B. The CSF was also positive for meningococcus by polymerase chain reaction using primers NM1 and NM6, which amplify a 650 bp region of the dihydropteroate synthase (dhps) gene of N. meningitidis.

Fatal Outcome↗
PubMed1994

Variable expression of clinical features of Martin Bell syndrome in younger patients.

The clinical features of 20 patients of Martin Bell syndrome were analyzed in order to derive diagnostic features in younger patients. The characteristic clinical features comprising long face, large ears and macro-orchidism were commoner in children more than 10 years old than in prepubertal children. This study shows that younger the patient, fewer the classical features exhibited. Hyperactivity was the most useful feature for diagnosis of the younger patient with Martin Bell syndrome.

Adolescent↗