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Biomedical subjects

R K Marwaha

Publications and source records attributed to R K Marwaha.

At least 19 recordsLinked to original sources
PubMed2006

Peripheral bone mineral density and its predictors in healthy school girls from two different socioeconomic groups in Delhi.

UNLABELLED: Peripheral bone density measurements are scarce and the factors, which predict bone mineral density at these sites, especially in children, are not clearly known. In this study, age, height, weight and alkaline phosphatase had a significant association on peripheral bone mineral density in healthy Indian school girls. INTRODUCTION: Factors that lead to the attainment of peak bone mass at peripheral sites, during period of growth are not clearly known. METHODS: Six-hundred and sixty-four randomly selected 7- to 17-year-old girls from upper and lower socioeconomic status (USES/LSES) schools were assessed clinically and a recording of their height and weight was undertaken. Serum calcium, phosphorus, total alkaline phosphatase (ALP), 25-hydroxyvitamin D (25-OHD) and parathyroid hormone (PTH) were measured in all of them. Bone mineral density (BMD) was measured at the distal forearm (BMDdf) and calcaneum (BMDca) by peripheral dual energy X-ray absorptiometry (pDXA). RESULTS: Girls belonging to the USES were significantly taller (149.7 +/- 12.3 cm vs 144.4 +/- 11.9 cm; P < 0.001) and weighed more (44.3 +/- 12.9 kg vs 35.9 +/- 10.0 kg; P < 0.001) than girls from the LSES. USES girls had a significantly higher mean serum calcium (9.3 +/- 0.7 mg/dl vs 9.2 +/- 0.8 mg/dl; P < 0.05) and significantly lower alkaline phosphatase (316 +/- 166 IU/l vs 423 +/- 228 IU/l; P < 0.01) and iPTH (29.9 +/- 18.4 pg/ml vs 45.7 +/- 64.6 pg/ml; P < 0.01). There was no significant difference in mean serum phosphorus and 25-OHD levels between the two groups. USES subjects had higher BMD at both sites than LSES subjects. BMDdf and BMDca increased with age and tended to plateau by 16 years and 12 years of age respectively in both the groups. Age, height and weight explained approximately 50% of the variability, while biochemical parameters explained approximately 30% of variability in BMD at both the sites. The only biochemical parameter which had a significant association with BMD was ALP at the distal forearm. CONCLUSION: In conclusion, age, nutrition, height and weight are significantly associated with BMD at peripheral sites.

Adolescent↗
PubMed2006

Psychosocial burden in thalassemia.

OBJECTIVE: To study the psychosocial life aspects of Indian adolescents suffering from transfusion dependent beta-thalassemia major. Earlier studies done in Italy, Greece and United Kingdom reported the presence of psychosocial burden associated with the disease. We aimed to determine the presence of disease burden in the psychosocial life aspects of Indian adolescents affected with thalassemia. METHODS: Structured interviews were carried out with each of the subjects using a schedule which contained questions relating to perceived burden of thalassemia in the various psychosocial life aspects of affected adolescents. RESULTS: Adverse impact of thalassemia was perceived in the domains of education (70%) and sports (72%). Most thalassemics were not satisfied with their body image. Almost all the study subjects felt that the disease did not affect their family or social relationships. The adolescents were anxious about their future health and education. Majority of the subjects (80%) did not discuss about their disease and its related problems with their friends. They mainly depended on their parents for monetary and emotional support. CONCLUSION: There is tremendous psychosocial disease burden perceived by the affected adolescents and hence it is imperative to ameliorate it by promoting a clear understanding of the disease and initiating intervention programs.

Adolescent↗
PubMed2006

Fine needle aspiration biopsy in pediatric space-occupying lesions of liver: a retrospective study evaluating its role and diagnostic efficacy.

BACKGROUND: Liver space-occupying lesions (SOLs) in the pediatric population form a unique and distinct spectrum as compared with those in the adult population. There are no large studies available in the English literature regarding fine needle aspiration cytology (FNAC) in pediatric liver SOLs. AIM: This study was done to familiarize with the cytomorphological features of these distinctive benign and malignant lesions of liver and to determine the specificity, sensitivity, and diagnostic efficacy of FNAC. METHODS: A total of 41 FNACs from pediatric liver SOLs were reviewed, and the diagnoses were correlated with clinical and radiological findings, histopathological diagnoses, and/or follow-up information. These were categorized into malignant, benign, and indeterminate groups. RESULTS: There were 20 malignant lesions that included hepatoblastoma (7), hepatocellular carcinoma (4), undifferentiated embryonal sarcoma of liver (3), and metastases (6). The 12 benign lesions included abscess (8), 1 case each of mesenchymal hamartoma, focal nodular hyperplasia, hydatid cyst, and tuberculosis. In the overall FNAC performance calculation, the specificity of FNAC was 100%, sensitivity 95%, positive predictive value 100%, negative predictive value 92.3%, and diagnostic accuracy 96.9%. CONCLUSION: The recognition of the distinct cytomorphological features of pediatric focal liver lesions, in conjunction with the clinical data and radiological findings, make FNAC a useful primary diagnostic modality in these unique and distinctive lesions.

Adolescent↗
PubMed2006

Automated reticulocyte response is a good predictor of bone-marrow recovery in pediatric malignancies.

The authors attempted to establish the benefits of flow cytometry-based reticulocyte analysis over absolute neutrophil count (ANC) recovery. Serial hemograms of 18 pediatric cases of hematologic malignancies were analyzed until day 35 of chemotherapy. Immature reticulocyte fraction (IRF) showed early recovery in 44.4% of cases compared to ANC. Since reticulocyte fractions are not influenced by infections, they are a better parameter of bone marrow regeneration than ANC. The study shows that IRF can act as a harbinger of regenerating bone marrow activity in patients with persistent neutropenia and guide the modulation of antibiotic strategies in these patients.

Adult↗
PubMed2006

Immunogenetic association and thyroid autoantibodies in juvenile autoimmune thyroiditis in North India.

OBJECTIVES: Autoimmune thyroid diseases (AITD) encompass a number of conditions that have in common cellular and humoral responses targeting the thyroid gland. Interactions between susceptibility genes and environmental triggers are thought to initiate an autoimmune response to thyroid antigens leading to disease manifestation. Commencement of the disease in childhood leads to the presumption that genetics may have an important role in the causation of the disease. DESIGN: The present study was aimed at evaluating the human leucocyte antigen (HLA) encoded susceptibility to develop juvenile autoimmune thyroiditis (JAT) in patients from North India. PATIENTS: We studied 48 consecutive patients of JAT along with 176 first-degree relatives for their thyroid function (FT4, TSH) and anti-thyroid peroxidase antibody status (AbTPO). MEASUREMENTS: HLA studies were carried out using serology for HLA-class I antigens and DNA analysis of HLA-class II alleles. The data were compared with a cohort of 308 ethnically matched healthy individuals. RESULTS: We observed overt hypothyroidism in 50% and AbTPO positivity in 70.8% of the index cases. Among the first-degree relatives, goitre was observed in 51.7%, thyroid dysfunction in 28.4% and AbTPO in 29.5% of individuals. Of the 37 relatives who underwent fine-needle aspiration cytology (FNAC), 60% had evidence of chronic lymphocytic thyroiditis (CLT). A strong positive association of HLA-DRB1*1404 was observed with the JAT (35.4%vs. 10.4%, chi2 = 19.8, Pc = 0.0001). We also observed a higher (72%, P = 0.03) paternal transmission of HLA-DRB1*1404 to affected offspring in comparison to unaffected offspring. HLA-DRB1*03 was also increased among JAT patients but did not reach statistical significance. CONCLUSION: These studies point towards an important role of immune modifying genes, such as HLA, in influencing susceptibility to juvenile-onset AITD.

Adolescent↗
PubMed2006

Anti Kell allo-antibody in a thalassaemic.

We describe a case of incidental detection of anti Kell antibody in a child with transfusion dependent thalassaemia. Kell antibody detection may be missed by routine indirect antiglobulin test (IAT) crossmatch procedure because of low prevalence of Kell antigen in the general population. A false negative result can be avoided by using sensitive cross matching techniques and screening cells representing antigens in homozygous state, against all clinically significant antibodies. A transfusion alert card describing the nature of antibody and future transfusion policy should be given to such allo-immunized patients.

Adolescent↗
PubMed2006

Hemolytic anaemia due to unstable hemoglobin arising from spontaneous mutation--a case report.

9 years old male child presented clinically with thalassaemia intermedia phenotype. Investigations revealed hemolytic anaemia due to an unstable hemoglobin. Parents were found negative for the abnormal hemoglobin, suggesting a spontaneous mutation in the child. This is the third case of unstable hemoglobin to be reported from India. Clinically it is important that unstable hemoglobin should be suspected in a patient with thalassaemia intermedia phenotype even if both parents are haematologically normal.

Anemia, Hemolytic, Congenital↗
PubMed2005

Nucleotide -88 (C-T) promoter mutation is a common beta-thalassemia mutation in the Jat Sikhs of Punjab, India.

A study of beta-gene mutations in Jat Sikhs, a subcaste of Punjabis, revealed a very high prevalence (46%: 41/88) of the mild beta++ promoter region mutation -88 (C-T). Sixteen individuals presenting in homozygous form were clinically mild. Un-transfused patients had characteristic hematological findings: high Hb F (38.1-68.6%, mean 47.4%), high Hb A2 (5.7-9.8%, mean 6.88%), and the rest had adult hemoglobin. The 19 subjects with compound heterozygosity for -88 (C-T) and another beta-gene mutation presented both as thalassemia intermedia (four cases) and as thalassemia major (15 cases). One of the four patients with the milder phenotype had a second mild mutation, CAP+1 (beta++). In the other three cases with the milder phenotype, the second mutation was associated with the presence of the XmnI Ggamma polymorphism. Notably, the XmnI Ggamma was negative in all the -88 (C-T) alleles. None of the patients had associated alpha-thalassemia even in the thalassemia intermedia group. Haplotype analysis of the -88 (C-T) homozygous cases showed a single haplotype (+ - - - - + -) in all but two individuals. This haplotype is distinct from those described in the Africans with homozygous -88 (C-T), suggesting that the mutation in our population occurred independently.

Adolescent↗
PubMed2005

Interferon therapy in congenital dyserythropoietic anemia type I/II.

Congenital dyserythropoietic anemia (CDA) is a rare disorder, characterized by the association of ineffective erythropoiesis, variable degree of anemia, and erythroblastic morphological abnormalities. alpha-Interferon has been reported to be effective in type I CDA, but efficacy in other types of CDA is uncertain. Encouraged by the reports, we evaluated the efficacy of alpha-interferon in 6 children with CDA. Diagnosis of CDA was established on the basis of clinical profile, distinct morphological findings on light microscopy, and the Ham's test, following the exclusion of the more common causes of hemolysis. Erythrocyte agglutinability and lysis to anti-i and anti-l sera, electron microscopy, and SDS-polyacrylamide gel electrophoresis were not performed, due to nonavailability. There were 3 cases, each, with type I and type II CDA. The mean age was 5.5 years (range: 6 months to 11.5 years). Five of the 6 patients were transfusion dependent. alpha-Interferon was administered subcutaneously for a mean duration of 19 weeks (range: 12-30). The dose ranged from 2.6 to 6.5 million IU/m2/dose. The frequency of injections varied from thrice weekly to alternate days. No favorable effect on hemoglobin, reticulocyte count, or transfusion frequency was observed. alpha-Interferon therapy was found to be ineffective in all the patients. These observations question the use of interferon in CDA until further studies in a larger number of patients establish its efficacy.

Anemia, Dyserythropoietic, Congenital↗
PubMed2005

Hematological disorders in Down syndrome: ten-year experience at a Tertiary Care Centre in North India.

A total of 239 cases of Down syndrome (DS) were seen in the genetic clinic between 1992 and 2003, of which of 15 had hematological manifestations at presentation. These comprised 4 cases of transient myeloproliferative disorder (TMD), 3 cases of TMD/acute leukemia, 4 cases of acute leukemia (AL), 2 of dual deficiency anemia, and 1 case each of myelofibrosis and idiopathic thrombocytopenia. This study emphasizes the fact that an abnormal hemogram in a DS patient does not necessarily indicate AL/TMD, as a considerable number of the cases in this study had other hematological abnormalities. TMD can be differentiated from acute leukemia only on follow-up.

Case-Control Studies↗
PubMed2005

Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait.

OBJECTIVES: To determine the allele frequency in the north Indian population of the two mutations in the HFE gene, the C282Y and H63D, which are responsible for causing hereditary haemochromatosis particularly in Caucasians of north European descent. We also wanted to correlate these mutations with the iron status in beta thalassemia traits. PATIENTS AND METHODS: Sixty normal subjects and 215 individuals with beta thalassemia trait from north India were screened for the C282Y and H63D by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP). We studied the iron status in these subjects and correlated the same with the HFE gene mutations. RESULTS: On screening for the C282Y gene mutation, all individuals were detected to be of the wild-type. The overall allele frequency of H63D was 9.09% with three individuals being homozygous for 63D. No statistically significant difference in the iron status was detected between the individuals of the wild-type and mutant for H63D. Haplotyping of the homozygous 63D alleles revealed the pattern to be identical to the Europeans. CONCLUSIONS: Our study shows that H63D is prevalent and C282Y is rare in north Indians and the presence of 63D mutation does not increase body iron as measured by serum ferritin in beta thalassemia traits. Haplotype of H63D gene mutation is of an European haplotype, indicating a common origin.

Alleles↗
PubMed2005

Myelodysplastic syndrome with erythroid hypoplasia.

The incidence of myelodysplastic syndrome (MDS) with erythroid hypoplasia/aplasia is probably underestimated because in most patients it is mistaken for acquired pure red blood cell aplasia. This report describes three children who fulfilled the criteria for MDS with erythroid hypoplasia/aplasia. All these patients had transfusion dependent anaemia, reticulocytopenia, erythroid hypoplasia/aplasia, severe dysgranulopoiesis, and dysmegakaryopoiesis.

Blood Transfusion↗
PubMed2005

Assessment of adrenal endocrine function in Asian thalassemics.

Adrenal endocrine function was assessed in a cohort of 20 patients, between 10 and 20 years of age, with transfusion dependent beta thalassemia. Cortisol levels were assayed before and after ACTH stimulation with 1 micrograms and 250 micrograms. Adrenal dysfunction was defined as a basal cortisol of greater than 400 nmol/L and/or peak cortisol levels of greater than 500 nmol/L. Overall, 9 patients (45 %) had in vitro evidence of adrenal dysfunction. A statistical significant correlation (r=0.4308; P < 0.05), between wasting and the basal cortisol level, was observed. Similarly, there was correlation between the number of transfusions received and growth failure (r=0.4774;P < 0.05). In comparison to the involvement of other endocrine axes in polytransfused thalassemics, the adrenal endocrine function abnormalities are minor and clinically of little consequence. The observations, albeit, in a small cohort of thalassemics, stress the need for an annual estimation of basal cortisol level, especially in patients with wasting.

Adolescent↗
PubMed2005

Antioxidant status in children with homozygous thalassemia.

The status of enzymatic and non-enzymatic anti-oxidants was evaluated in 41 patients with transfusion dependent beta-thalassemia. An additional 20 age-matched children, with non-hemolytic anemia, served as controls. Fresh blood samples, obtained in the morning, were processed immediately. Plasma was stored at -80 degrees C. Levels of vitamins A and E were assayed simultaneously by HPLC. RBC vitamin A was not measurable in 29 (70.7%) thalassemics and in all the controls. Plasma vitamin A levels were lower in thalassemics than in controls (p<0.05). Vitamin E in RBCs was not measurable in 13 (31. 7%) cases. The mean level of RBC vitamin E was 3 times lower in thalassemics. Similarly, SOD enzyme activity in thalassemics, was at least 1.5 lower in comparison to the activity documented in controls (p<0. 05). The observations indicate that thalassemics have enhanced oxidative stress. Administration of selective antioxidants and a balanced diet may preclude oxidative damage.

Child↗
PubMed2005

Haematological profile of childhood visceral leishmaniasis.

Visceral leishmaniasis is the most severe form of the disease affecting children. Definite diagnosis relies on the demonstration of the parasite in various tissues. Bone marrow examination is a well accepted method, but has sensitivity between 60-85%. In the present study we analyzed other associated bone marrow features in 28 cases of pediatric leishmaniasis, which would help raise the suspicion level and thus bring about more positive results. Pancytopenia was observed in 54% cases and bicytopenias in another 20.5% cases. Peripheral absolute lymphocyte count did not increase in any case. Increase in plasma cells (mean 6.7%) and increase of phagocytic cells (28.5%) with haemophagocytosis (21.43%) was observed frequently in the bone marrow.

Animals↗
PubMed2004

Griscelli syndrome.

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.

Chediak-Higashi Syndrome↗