Browsing by Author "Kabra, M"

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    Adhalin deficiency: an unusual cause of muscular dystrophy.
    (2001-11-05) Dua, T; Kalra, V; Sharma, M C; Kabra, M
    Childhood muscular dystrophies have a wide clinical spectrum, motor disability and are variably inherited. Although the phenotype may appear similar they may represent distinct genetic entities. Advances in immunohistochemistry, gene deletion and linkage studies have enabled precise characterization. We report a family with an early onset weakness and calf pseudo hypertrophy in 2 male sibs with an usually mild course. Deletion screening was negative for 24 exons of the DMD gene in both. Muscle immunohistochemistry revealed normal dystrophin I and II staining but complete absence for adhalin, a dystrophin associated glycoprotein. Classifying them as adhalinopathy. Severe childhood autosomal recessive muscular dystrophies (SCARMD) result from mutation in the sarcoglycan complex (59). Adhalinopathy is now used to describe SCARMD. The adhalinopathy described in our patients is the first report from India.
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    An approach to neurometabolic disorders by a simple metabolic screen.
    (2000-01-04) Gulati, S; Vaswani, M; Kalra, V; Kabra, M; Kaur, M
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    Biotinidase deficiency--a treatable entity.
    (2000-06-10) Gulati, S; Passi, G R; Kumar, A; Kabra, M; Kalra, V; Verma, I C
    Biotinidase deficiency is a well recognised treatable cause of a wide spectrum of progressive neurological symptoms. Recent reports have stressed the need to screen children with early onset of seizures, encephalopathy, neurodevelopmental delay, skin rash and alopecia. Enzyme estimation remains the conclusive test. We present a patient with biotinidase deficiency suspected on the above clinical grounds and diagnosed on the basis of metabolic acidosis, raised blood lactate, ketonuria and positive dinitrophenylhydrazine (DNPH) test and confirmed on urinary organic acid profile. Supplementation with biotin resulted in marked clinical improvement and normalisation of metabolic parameters. Thus the clinician should be alert to simple clinical pointers which aid in early diagnosis of these disorders.
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    Can throat swab after physiotherapy replace sputum for identification of microbial pathogens in children with cystic fibrosis?
    (2004-01-26) Kabra, S K; Alok, Atul; Kapil, A; Aggarwal, G; Kabra, M; Lodha, R; Pandey, R M; Sridevi, K; Mathews, J
    OBJECTIVE: To compare cultures throat swab after physiotherapy with results of sputum culture in identification of lower airway pathogens in children with cystic fibrosis. METHODS: 387 samples of sputum cough swabs, throat swab and throat swab after physiotherapy were collected from 48 patients of cystic fibrosis and cultured for aerobic bacteria. The results of cultures of cough swabs, throat swab and throat swab after physiotherapy were compared with results of sputum culture. RESULTS: There was good concordance between culture results of sputum and other methods. Over all concordance was 70%, 81% and 92% with cough swab, throat swab and throat swab after physiotherapy. Sensitivity for isolation of Pseudomonas aeruginosa by throat swab, cough swab and throat swab after physiotherapy was 40%, 42% and 82% respectively. Specificity for isolation of Pseudomonas by throat swab, cough swab and throat swab after physiotherapy was 99%, 100% and 99% respectively. Sensitivity for isolation of Staphylococcus aureus by throat swab, cough swab and throat swab after physiotherapy was 57%, 50% and 100% respectively. Specificity for isolation of Staphylococcus by throat swab, cough swab and throat swab after physiotherapy was 99% for all these methods. CONCLUSION: It is concluded that throat swab after physiotherapy in a child with CF can be used reliably for identification of lower airway pathogens.
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    Carrier screening and prenatal diagnosis of beta-thalassemia.
    (1999-11-04) Maheshwari, M; Arora, S; Kabra, M; Menon, P S
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    The challenge of haemoglobinopathies in India.
    (1999-09-29) Kabra, M; Menon, P S
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    Cleidocranial dysplasia.
    (2001-07-08) Gulati, S; Kabra, M
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    Clinical and biochemical studies in homocystinuria.
    (1995-10-01) Kaur, M; Kabra, M; Das, G P; Suri, M; Verma, I C
    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.
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    A clinical and cytogenetic study of Turner syndrome.
    (1995-04-01) Suri, M; Kabra, M; Jain, U; Sanders, V; Saxena, R; Shukla, A; Singh, G V; Verma, I C
    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.
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    Clinical and enzyme studies in Gaucher disease.
    (1996-09-01) Kaur, M; Kabra, M; Kher, A; Naik, G; Bharucha, B A; Verma, I C
    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.
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    Congenital adrenal hyperplasia presenting as hematuria and acute renal faliure.
    (2001-12-13) Sharma, J; Bajpai, A; Kabra, M
    We present a neonate who presented with hematuria and acute renal failure. Classical 21 hydroxylase deficiency was diagnosed on the basis of features of salt wasting, response to treatment with corticosteroids and mineralocorticoids and a positive ACTH stimulation test. Renal vein thrombosis secondary to hemoconcentration due to salt wasting was attributed as the cause of hematuria. Follow-up revealed clinical improvement and normalization of renal parameters. This is the first report of congenital adrenal hyperplasia presenting as hematuria and renal failure to the best of our knowledge.
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    Congenital myotonic dystrophy.
    (2001-05-16) Gulati, S; Kabra, M; Gera, S; Kalra, V; Saxena, R; Verma, I C
    Myotonic muscular dystrophy is the most frequent autosomal muscular dystrophy affecting adults and children. It affects multiple organ systems and is probably the best example of variable expressivity in a human disease. This article presents a patient with congenital myotonic dystrophy who had facial dysmorphism, hypotonia, talipes, feeding and respiratory difficulties in the neonatal period and later presented to us with developmental delay and had percussion myotonia. His mother had clinical and electrophysiological features of myotonia. Expansion of unstable CTG trinucleotide repeat in the myotonic protein kinase gene was demonstrated in both. The identification of this molecular defect allows its specific diagnosis in relation to other neuromuscular disorders as well as accurate prenatal diagnosis.
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    Consumption coagulopathy in neonates born to mothers with pregnancy induced hypertension.
    (1994-07-01) Narayan, S; Kumari, S; Mangwana, S; Logani, K B; Kabra, M
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    Cord blood analysis for prenatal diagnosis of thalassemia major and hemophilia A.
    (2005-06-05) Panigrahi, I; Ahmed, R P H; Kannan, M; Kabra, M; Deka, D; Saxena, R
    Beta thalassemia and Hemophilia A are common genetic disorders for which prenatal diagnosis (PND) is an accepted option. Our aim was to evaluate cord blood analysis as a method for PND of these disorders. Cord blood samples at 18-26 weeks gestation from nine mothers with previous thalassemia major child and five families with previous hemophilia A were studied. In the former; HbF, HbA2 and HbF were determined by high performance liquid chromatography (HPLC) and in latter; Factor VIII and IX assays were done by one stage method. In HPLC studies for thalassemia, three out of nine fetuses were affected, five were carriers and one was normal. In hemophilia PND samples, 2 out of five fetuses were affected. Thus, HPLC and factor VIII assay in cord blood are feasible alternatives for PND in Beta thalassemia and hemophilia A respectively, especially when DNA analysis is uninformative or there are financial constraints.
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    Cystic fibrosis--an Indian perspective on recent advances in diagnosis and management.
    (1996-03-01) Kabra, S K; Kabra, M; Ghosh, M; Verma, I C
    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.
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    Cytogenetic causes for recurrent spontaneous abortions - An experience of 742 couples (1484 cases).
    (2005-05) Dubey, S; Chowdhury, M R; Prahlad, B; Kumar, V; Mathur, R; Hamilton, S; Kabra, M; Menon, P S N; Verma, I C
    BACKGROUND: First trimester pregnancy loss is a very common complication and a matter of concern for couples planning pregnancy. Balanced chromosomal rearrangements in either parent is an important cause of recurrent pregnancy loss particularly in the first trimester. AIMS: In this study an evaluation of the contribution of chromosomal anomalies in causing repeated spontaneous abortions was made. METHODS AND MATERIALS: A review of the cytogenetic data in 742 couples (1484 individuals) with recurrent spontaneous abortions who were examined for chromosomal aberrations in the period 1990-2003 is presented. Women who had at least two abortions, or spontaneous abortions preceded or followed by fetal deaths or birth of a malformed child, and patients who had recurrent spontaneous abortions (> 3) with normal live issue/s were studied. RESULTS: Chromosomal rearrangements were found in 31 individuals (2%). These abnormalities included 22 (2.9%) structural aberrations, 9 (1.2%) numerical anomalies. In addition to these abnormalities, 21 (3.2%) chromosomal variants were also found. CONCLUSION: Chromosomal analysis is an important etiological investigation in couples with repeated spontaneous abortions as it helps in genetic counseling and deciding about further reproductive options.
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    Delta F 508 molecular mutation in Indian children with cystic fibrosis.
    (1996-12-01) Kabra, M; Ghosh, M; Kabra, S K; Khanna, A; Verma, I C
    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.
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    Denys-Drash syndrome.
    (1995-12-01) Suri, M; Kabra, M; Kataria, A; Singh, G R; Sharma, S; Gupta, A K; Menon, P S; Verma, I C
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    Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.
    (2001-01-13) Mathur, R; Kabra, M; Menon, P S
    Congenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening problems and virilization, with long term physical and psychological effects. The clinical and laboratory diagnoses play an important role in deciding the course of treatment, which continues lifelong. To ensure proper growth and development of the patient, optimized disease management and treatment with steroids is required. Often the patient also requires surgical correction. Recent developments in molecular genetics have greatly helped in understanding the pathogenesis of the disease. The gene encoding for steroid 21-hydroxylase, CYP21, is located on the short arm of chromosome 6 in the HLA region and is amplified for genetic diagnosis. Rapid characterization of point mutations is possible using the allele-specific polymerase chain reaction technique in affected children. Counselling, prenatal diagnosis and treatment are recommended in all pregnant women with a positive family history to reduce or eliminate the effects in affected foetuses. This spares the female newborn the consequences of genital ambiguity and problems of gender identity.
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