Publications by authors named "Rk Marwaha"

Background: Ultrasound assessment of thyroid volume is considered a more objective method than clinical palpation for the diagnosis of goitre. 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.

Methods: In a cross-sectional study, we clinically examined 27,250 children from the lower and higher socioeconomic strata (SES) from all over India to determine their goitre staging.

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A 12-year-old boy presented with a history of sudden-onset vomiting, headache, and giddiness. Two members of his family manifested neurofibromatosis type 1. On examination, the child had multiple café-au-lait spots, bilateral axillary freckles, and Lisch nodules in both eyes.

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Clinical profile, disease-distribution and outcome of Langerhans cell histiocytosis (LCH) is presented in this retrospective analysis. There were 69 children with LCH from January 1986 to December 2004. Diagnosis was presumptive in the majority.

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An autopsy report of pleuropulmonary blastoma (PPB) is described in a two-and-a-half-year-old male child who died within a few days of starting chemotherapy. Autopsy revealed a large tumor almost occupying the whole of left hemithorax with widespread extension to pleura. The diagnosis was confirmed to be PPB, type III on autopsy.

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Studies on bone mineral health in children have been primarily based on clinical, biochemical and radiological evidence. Measurement of vitamin D levels and bone mass by non invasive imaging techniques like dual energy X-ray absorptiometry (DEXA), have led to a plethora of data regarding various factors responsible for bone mineral health from various countries including India. We reviewed the currently available evidence on status of calcium-vitamin D-parathormone (PTH) relationship and bone mineral density (BMD) in apparently healthy children.

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

Design And Settings: Children presenting for the first time to the Thyroid Clinic at the Institute of Nuclear Medicine and Allied Sciences for the complaint of goiter over a two year period (January 2005-December 2006) were studied.

Subjects: 695 school children (244 boys and 451 girls) aged 5-18 year were studied.

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A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly.

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Wandering spleen is a rare clinical entity characterized by splenic hypermobility resulting from laxity or maldevelopment of supporting splenic ligaments. Its major complication is splenic torsion, which is a potentially fatal surgical emergency. We present a rare case of wandering spleen with torsion and splenic infarction in a patient with marfanoid hypermobility syndrome and vertebral abnormalities.

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Background: Interpretation of thyroid function tests during pregnancy needs trimester-related reference intervals from pregnant populations with minimal risk for thyroid dysfunction. 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.

Aims And Objectives: To determine trimester-specific reference ranges for free triiodothyronine (FT(3)), free thyroxine (FT(4)) and thyrotropin (TSH) from healthy pregnant Indian women.

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The clinical profile and outcome of neuroblastoma in 103 children, older than one-year is presented. 74 had Stage IV, 27 Stage III and one patient each had Stage I or II disease. Treatment included chemotherapy followed by surgical resection/debulking.

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A 13-year-old boy with thalassemia major presented with generalized seizures. He was non-chelated and had hypoparathyroidism with extensive intracranial calcification, an association that is rarely reported.

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Autoimmune thyroiditis is a frequent cause of goiter in children and studies point to the increasing prevalence of juvenile autoimmune thyroiditis (JAT) in children and adolescents. Clinically, JAT can manifest, depending on the presence or absence of goiter, as either a goitrous form or atrophic form. Both are characterized by the presence of thyroid antibodies in serum, with the goitrous form being more common in children.

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Forty to fifty per cent of skeletal mass, accumulated during childhood and adolescence, is influenced by sunlight exposure, physical activity, lifestyle, endocrine status, nutrition and gender. In view of scarce data on association of nutrition and lifestyle with hypovitaminosis D in Indian children and adolescents, an in-depth study on 3,127 apparently healthy Delhi schoolgirls (6-18 years) from the lower (LSES, n 1,477) and upper socioeconomic strata (USES, n 1650) was carried out. These girls were subjected to anthropometry and clinical examination for hypovitaminosis D.

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Objectives: 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.

Methods: The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. The frequency of the CAP+1 (A-->C) polymorphism was determined and an analysis of the red cell indices, HbA(2) levels, iron status, and alpha-globin genes was carried out in 35 heterozygotes.

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Objective: There is an ongoing debate on narrowing the TSH reference range in adults. In view of the scarce data on normal values of thyroid function tests in children from India, we planned to establish a reference range for thyroid hormones in school-age children.

Design And Subjects: All children (N = 9527; 6-19 years) from six schools representing various zones of Delhi were evaluated for clinical evidence of goitre, thyroid ultrasound, serum free T3 (FT3), free T4 (FT4) and TSH and anti-thyroid peroxidase (anti-TPO) antibodies.

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Fanconi anemia is an autosomal recessive disorder characterized by phenotypic abnormalities, increased chromosomal breaks and predisposition to various hematological and non-hematological malignancies. We present case report of a paediatric patient with Fanconi anemia presenting as acute myeloid leukemia. The presence of dysplastic features in this marrow suggests the possibility of a prior stage of myelodysplasia progressing to leukemia.

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Opportunistic fungal infections are significant problems for neutropenic patients who are undergoing cytotoxic therapy for acute leukemia. Systemic and hepatosplenic candidiasis have been reported in acute leukemic patients who are on chemotherapy. Gastrointestinal tract involvement is a rare phenomenon in disseminated candidiasis, especially in acute leukemia.

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Anemia in visceral leishmaniasis is a usual manifestation; however, Coombs positive hemolytic anemia has been infrequently reported. In this brief communication, we report occurrence of immune hemolytic anemia in a young child with visceral leishmaniasis. She was successfully treated with liposomal amphotericin.

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A 6 months old female infant presented with history of fever, cough and severe respiratory distress. There was past history of recurrent attacks of pneumonia. She succumbed to the illness after a hospital stay of 7 days.

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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.

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Objective: (1) To assess the height, weight and body mass index (BMI) of school children from Delhi and generate percentile charts as appropriate for age, gender and socio-economic status. (2) To determine the prevalence of overweight and obesity in school children from low and upper socioeconomic status (LSES and USES respectively).

Design: Cross sectional evaluation of anthropometric parameters in Delhi school children (5-18 years) from different geographical zones.

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