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Biomedical subjects

M Kabra

Publications and source records attributed to M Kabra.

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↗
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.

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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

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↗
PubMed1993

Neonatal herpes.

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Acyclovir↗
PubMed1992

Significance of cord problems at birth.

Cord problems at birth were prospectively studied in 12,000 singleton deliveries, of which 258 (2.15%) babies had cord abnormalities. Nearly 32% of these cases had fetal distress and 20.5% had 1 minute Apgar score less than 6. Of the various cord problems nuchal cord was noted in 79.1%, cord prolapse in 12.4% and true knots in 3.9% cases. Perinatal mortality rate with cord problems was 85.27/1000 births. Neonatal problems noted were septicemia (4.56%), aspiration syndromes (13.48%), hypoxic ischemic encephalopathy (7.30%), neonatal convulsions (2.14%) and hyperbilirubinemia (2.14%). Although mean Hb and PCV were lower in those with cord round the neck as compared to normal controls, this difference was not significant. Seven babies had Hb less than 13 g/dl with nuchal cords. Neonates born with cord around the neck or with other cord abnormalities should be carefully followed up for morbidity.

Apgar Score↗
PubMedDate not supplied

Management of Wiskott-Aldrich syndrome.

A five-month-old boy presented with lower gastrointestinal bleed, recurrent infections and eczema. Blood picture revealed small platelets, high IgA, and IgM levels. A diagnosis of Wiskott-Aldrich Syndrome was made. The recent concepts in molecular pathology of the disease and treatment are discussed.

Child, Preschool↗
PubMedDate not supplied

Trends in neonatal outcome with low Apgar scores.

Trends in incidence and neonatal outcome following low Apgar scores (1 min Apgar score < 6) were prospectively studied during the years (1981, 1983, 1986 and 1988. The incidence of birth asphyxia was 7.6% of live births during the study period; it was 5.8% in 1981, increased to highest of 8.9% in 1986 with slight reduction to 7.2% in 1988. Birth weight distribution of asphyxiated babies and 1 min Apgar score < 3 (severe asphyxia) remained unchanged. A significant decline in neonatal mortality with asphyxia was noted from 46.0% to 28.4% during 1981 and 1988 respectively. Aetiological factors for asphyxia could be identified in nearly 90% of infants during 1988, and all but 2 of 12 factors studied registered significant differences from control non-asphyxiated group.

Apgar Score↗
PubMedDate not supplied

Optimal care for children with Down syndrome in India.

Medical problems which arise in Down Syndrome are reviewed. Guidelines for management including early diagnosis of congenital heart defects, gastrointestinal anomalies, eye problems, hearing defects, thyroid dysfunction, at lanto-axial instability, prognosis for mental retardation, and role of early stimulation are provided. Prenatal diagnosis in high risk pregnancies is recommended.

Adolescent↗
PubMedDate not supplied

Cystic fibrosis--an Indian perspective on recent advances in diagnosis and management.

Cystic fibrosis (CF) is a common inherited disorder in caucasians. The estimated incidence of CF in Asians varies from 1:10,000 to 1:12,000. Indian data is restricted to few case reports. The gene for CF is located on the long arm of chromosome 7 at position 7q13. There are more than 300 identified mutations in CF. The basic defect in CF is a mutational change in the gene for chloride conductance channel. Failure of chloride conductance by epithelial cells leads to dehydration of secretions that are too viscid and difficult to clear. The disease is characterized by abnormal secretions in the respiratory, gastrointestinal and reproductive tract and sweat glands. The common clinical manifestations include meconium ileus in neonatal period, recurrent lower respiratory tract infections (pseudomonas pneumonia, bronchiectasis), steatorrhoea, azoospermia, and in late stages hepatobiliary and endocrine pancreatic dysfunctions. The diagnosis of disease is established by clinical criteria and sweat chloride concentration more than 60 mEq/L. Facilities for DNA diagnosis of common CF mutations are now available in India. The treatment of CF includes early diagnosis, daily clearance of respiratory passages, appropriate antibiotic therapy, aerosolised recombinant human DNase and antibiotics, and nutritional supplementation. The latter include changes in diet composition, pancreatic enzyme supplementation and vitamins and trace mineral supplementation. Gene therapy for the pulmonary manifestations is being tried in a number of centres abroad. Other considerations include heart lung transplantation and ameloride inhalation therapy.

Adolescent↗