Ram Kumar Marwaha

..Difficulties arise due to inadequate blood transfusion facilities in developing countries...

..Children with ALL-mimicking JRA may belong to a subgroup of ALL with a better prognosis...

..To analyze the prognostic impact of overt testicular disease (OTD) at diagnosis and role of testicular irradiation in the same...

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..Six patients had CDA type II and four had CDA type I. Age at onset of pallor ranged from birth to 9 years. Blood transfusion requirements varied from nil to monthly. This is the first report of CDA type I from India...

..16 cases were analyzed. Blood transfusion requirement fell by >25% in 8 (50%) patients with a decrease of >40% documented in 3 of these. No perceptible adverse effects were recognized...

..A short history of presentation (< 3 months) and > or = 70% lymphoid cells in marrow correlated with poor prognosis...

..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...

..To assess the molecular basis of phenotypic heterogeneity in north Indian patients with thalassemia major (TM)...

..Overall, RT-PCR resolved 38 (86%) of 44 vs 35 (69%) of 51 cases by immunocytochemical analysis. RT-PCR is easily applied to fine-needle aspirates of SBRCT and greatly facilitates accurate tumor typing...

..Many deaths should be avoidable by the provision of adequate supportive care, close supervision during and after chemotherapy, and appropriate antibiotic and antifungal therapy...

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..Cell block can be of help to perform ancillary investigations especially β-catenin for both diagnostic and therapeutic purposes...

..There was an excess of genetic males, possibly due to prevalent socio-cultural factors and gender bias favoring males. There is a need to improve the diagnostic facilities and incorporate a team approach in management of DSD...

..We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India...

..Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information...

..Depending on the etiology, the clinical presentation can be with fever, pallor or infection. Knowing the exact etiology is important for specific treatment and prognostication...

..To assess the clinical significance of the interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians...

..Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously...

..The clinical course was complicated by sepsis with Escherichia coli, vancomycin-resistant enterococci, and Stenotrophomonas maltophilia. Implications for treatment are discussed and earlier literature is reviewed...

..In the present article, we highlight the common questions asked by the family and the general practitioners on thalassemia care...

..These were correlated with the survival outcome. The morphologic features subsequent to chemotherapy were also analyzed...

..In this study, the authors evaluated the applicability of flow-cytometric immunophenotyping (FCI) and compared it with immunocytochemistry (ICC) for the accurate categorization of MSRCTs...

..Thus, zolendronic acid is seen as a safe and effective BP in type III OI children. The exact dose for optimal benefit is yet to be determined. The long-term effects of newer BPs need further long-term trials...

..He responded to treatment for the raised intracranial pressure, and remained asymptomatic during follow-up...

..Further, non-Wilms' renal malignant neoplasms must be distinguished from the common Wilms' tumor so that appropriate chemotherapy protocols may be instituted in cases where the tumor is in an advanced stage of malignancy...

..This haplotype is distinct from those described in the Africans with homozygous -88 (C-T), suggesting that the mutation in our population occurred independently...

..We present a rare case of wandering spleen with torsion and splenic infarction in a patient with marfanoid hypermobility syndrome and vertebral abnormalities...

..We used ultrasonography to establish normal reference cut-off points of thyroid volume in schoolchildren of different socioecomonic groups in India and compared the results with international norms...

..Portal hypertension developed in 3 cases, all of whom had a fatal outcome. Twelve (17.4%) patients had diabetes insipidus. Disseminated disease with organ dysfunction was observed to be a predictor of fatal outcome...

..On remission, these granules were no longer seen. To the best of the authors' knowledge, this pattern of staining has not been previously reported in the literature...

..Age, nutrition, height and weight were seen to be significantly associated with BMD at peripheral sites...

..To evaluate the role of thyroid ultrasound in children with autoimmune thyroiditis diagnosed either on cytopathology or by the presence of thyroid peroxidase antibodies...

..While India has become iodine sufficient after two decades of salt iodisation, there is no normative data for thyroid function from healthy pregnant women of this country...

..We also wanted to correlate these mutations with the iron status in beta thalassemia traits...

..All these patients had transfusion dependent anaemia, reticulocytopenia, erythroid hypoplasia/aplasia, severe dysgranulopoiesis, and dysmegakaryopoiesis...

..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...

..Diagnosis was achieved in 13.5 days in these patients, compared to 4.5 days in patients where leishmaniasis was suspected at the outset...

..Aeromonas sobria with a similar profile as the isolates from the patients could be isolated from only one of several environmental sites. The outbreak could be contained by appropriate interventional measures...

..Also there are no such studies available in pediatric ITP cases. In this study, the prevalence and clinical significance of APAs were investigated in pediatric patients with ITP...

..Thyroid autoimmunity can explain only a part of the goitre prevalence. The role of goitrogens in residual goitre prevalence is brought forth...

..To study the clinical and microbial profile of childhood empyema in South Asia and to identify the changes over the past three decades...

..This case underscores the importance of a bone marrow examination in patients with unusual presentations of rare disorders...

..Having established a regional centre for the prenatal diagnosis for thalassaemia, the screening programmes will be enlarged both to identify carriers and prevent the birth of further homozygous children, even during the first pregnancy...

..TMD can be differentiated from acute leukemia only on follow-up...

..In this study, age, height, weight and alkaline phosphatase had a significant association on peripheral bone mineral density in healthy Indian school girls...

..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...

..Clinically it is important that unstable hemoglobin should be suspected in a patient with thalassaemia intermedia phenotype even if both parents are haematologically normal...

..CONCLUSION: These studies point towards an important role of immune modifying genes, such as HLA, in influencing susceptibility to juvenile-onset AITD...

..A transfusion alert card describing the nature of antibody and future transfusion policy should be given to such allo-immunized patients...

..05). The observations indicate that thalassemics have enhanced oxidative stress. Administration of selective antioxidants and a balanced diet may preclude oxidative damage...

..She became transfusion-independent and had consistent, albeit incomplete recovery after immunosuppressive therapy with antithymocyte globulin and cyclosporine...

..Of the nine patients with DBA who were administered prednisolone and had a regular follow-up, four (44.4 per cent) had no response, three (33.3 per cent) responded fully, and two (22.2 per cent) were steroid dependent...