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Rustagi T.,Bai Jerbai Wadia Hospital for Children
Journal of orthopaedic surgery (Hong Kong) | Year: 2013

Loeys-Dietz syndrome is characterised by vascular aneurysms, hypertelorism, and a bifid uvula. We report on an 11-year-old boy with Loeys-Dietz syndrome who presented with bilateral radial head dislocations and severe osteopaenia with changes of avascular necrosis in both hips causing an out-toeing, wide gait. Considering the poor prognosis for elbow movement and possible radial head dysplasia, surgical reduction of the radial heads was deferred. A subtrochanteric de-rotation osteotomy of the left hip was performed to improve the gait. Source

Otiv A.,G 202 | Mehta K.,G 202 | Ali U.,G 202 | Nadkarni M.,Bai Jerbai Wadia Hospital for Children
Indian Pediatrics | Year: 2012

Objectives: To determine the renal size in normal Indian children by sonography. Settings: Pediatric teaching hospital, Mumbai, India. Duration: 1.5 years. Design: Cross-sectional observational study. Participants: 1000 normal Indian children aged 1 month - 12 years. Methods: Sonographic assessment of renal size (length, width and thickness) was performed using Philips real time mechanical sector scanner of 3.5-5 MHz frequency with electronic caliper. The mean renal dimensions and volume were calculated for each age group with ± 2SD. The renal length and calculated renal volume were correlated with somatic parameters like age, weight, height and body surface area. Regression equations were derived for each pair of dependent and independent variables. Results: No statistical difference was found in renal size between sexes and between right and left kidney. A strong correlation was seen between renal size with various somatic parameters, the best correlation was between renal size length and body height (coefficient of correlation=0.9). Conclusion: This study provides values of renal length (mean ± 2SD) in normal Indian children. Renal length can be easily calculated by derived linear regression equation. Key words: Anthropometry, India, Kidney, Size, Ultrasonography. Source

Mhatre S.,National Institute of Immunohaematology | Madkaikar M.,National Institute of Immunohaematology | Desai M.,Bai Jerbai Wadia Hospital for Children | Ghosh K.,National Institute of Immunohaematology
Blood Cells, Molecules, and Diseases | Year: 2015

Inherited perforin deficiency is a rare autosomal recessive disorder that causes severe form of hemophagocytic lymphohistiocytosis (FHL2). The main aim of this study was to analyze the nature of gene mutations in a cohort of Indian patients with FHL2 and to utilize this knowledge for genetic counseling and prenatal diagnosis. Methods: 13 HLH patients with abnormal perforin expression on NK cells by flow cytometry were included in the study. The entire coding region and intronic splice sites of the PRF1 gene were sequenced from the genomic DNA of these patients. Results: 10 patients from the present series had an early presentation with severe clinical manifestations, while 3 had a delayed onset with unusual presenting features viz Hodgkin's lymphoma, tuberculosis and acute lymphoblastic leukemia. Sequence analysis revealed 11 different mutations (8 novel and 3 previously reported) spread over the entire coding region of PRF1 gene. Missense mutation Trp129Ser in heterozygous state was present in all the 3 patients with a delayed onset of the disease. Conclusion: A wide heterogeneity was observed in the nature of mutations in Indian FHL2 patients. Molecular characterization of PRF1 gene was not only used in the confirmation of diagnosis but also in genetic counseling and pre-natal diagnosis in affected families. © 2015 Elsevier Inc. Source

Madkaikar M.,National Institute of Immunohematology ICMR | Shabrish S.,National Institute of Immunohematology ICMR | Desai M.,Bai Jerbai Wadia Hospital for Children
Indian Journal of Pediatrics | Year: 2016

Hemophagocytic lymphohistiocytosis (HLH) is a life threatening hyperinflammatory syndrome characterized by excessive activation of macrophages and T cells resulting from defective cytotoxicity. Severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes (macrophages) secreting high amounts of inflammatory cytokines threatens the life of the patient and may lead to death unless arrested by appropriate treatment. HLH can be caused either by certain underlying genetic diseases (familial HLH), or may also occur due to particular triggers in patients with no known inherited disorder (acquired HLH). Due to life threatening nature of the disease, early diagnosis and initiation of immunosuppressive therapy is extremely important. HLH diagnosis is based on constellation of clinical manifestations and laboratory parameters which often overlap with those of severe infection or sepsis. Identification of patients with familial HLH and their underlying genetic defects requires specialized laboratory tests and is important for predicting relapses and planning early therapeutic hematopoietic stem cell transplantation (HSCT). A high suspicion and thorough clinical, immunological and genetic work-up is required for diagnosis of HLH. Prompt initiation of adequate treatment is essential for the survival. Substantial progress has been made in exploring the complex cause and pathophysiology of HLH and also in management of HLH patients. © 2016, Dr. K C Chaudhuri Foundation. Source

Ponde V.,All India Institute of Physical Medicine and Rehabilitation Center | Desai A.P.,Bai Jerbai Wadia Hospital for Children | Shah D.,Bai Jerbai Wadia Hospital for Children
Paediatric Anaesthesia | Year: 2013

Background and objectives Arthrogryposis multiplex congenital is hallmarked with immobile joints and muscle fibrosis. The main objective of this study was to compare the success rate of ultrasound-guided sciatic and femoral nerve blocks with nerve stimulations in children diagnosed with distal arthrogryposis multiplex congenita. Method Sixty children aged 8 months to 2 years posted for foot surgery were randomly assigned to group NS and group US of 30 each. Under general anesthesia, femoro-sciatic block was performed with nerve stimulator guidance in group NS and ultrasound guidance in group US. Results Group NS: 23 of 30 (76.7%) children showed ankle movement with sciatic neurostimulation. In 7 (23.6%), distal motor response could not be elicited and the block was abandoned. Out of 23 children who could be given femoral block, in 12 (52%) patients quadriceps contractions were not elicited and fascia iliaca block was given. All 23 blocks were successful. CHIPPS score at 1, 4, 6, 8, and 10 h was 1.05 ± 0.90, 1.82 ± 1.18, 3.36 ± 1.65, 2.23 ± 2.02, and 1.18 ± 1.14, respectively. Group US: In 29 of 30 patients (96.6%), sciatic nerve was visualized with ultrasonography. All 29 children received femoral block, and they were successful. The odds of success in group US were 8.9 (95% confidence interval [1.0, 77.9]) as compared with NS group. The difference in success rate was statistically significant (P = 0.026). The analgesic duration difference in the US and NS groups was a mean 7.62 ± 0.57 h in group NS and 8.60 ± 0.66 h in group US (statistically significant [P < 0.001]). CHIPPS score at 1, 4, 6, 8, and 10 h was 0.79 ± 0.96, 1.61 ± 0.92, 2.96 ± 1.04, 2.36 ± 2.54, and 1.14 ± 1.01, respectively. The difference between the CHIPPS score was not statistically significant. Conclusion Ultrasonography significantly increases the success rate of sciatic and femoral block in arthrogryposis. © 2012 Blackwell Publishing Ltd. Source

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