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31.
Gandham SriLakshmi Bhavani Hitesh Shah Ashwin B. Dalal Anju Shukla Sumita Danda Shagun Aggarwal Shubha R. Phadke Neerja Gupta Madhulika Kabra Kalpana Gowrishankar Anju Gupta Meenakshi Bhat Ratna D. Puri Sunita Bijarnia‐Mahay Sheela Nampoothiri Kavitha M. Mohanasundaram S. Rajeswari Akhil M. Kulkarni Muralidhar L. Kulkarni Prajnya Ranganath A. Radha Ramadevi Sankar V. Hariharan Katta Mohan Girisha 《American journal of medical genetics. Part A》2015,167(10):2481-2484
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Rachana Kathuria Ujjal Poddar Jayanta Ghosh Surender Kumar Yachha V. Gnanapriya Rakesh Pandey Anupriya Kaur Subha Phadke Anshu Srivastava 《Indian journal of gastroenterology》2012,31(6):343-345
Wolman disease (WD) is a rare, inherited, rapidly fatal condition presenting in early infancy. The disease manifests in the first month of life with failure to thrive, vomiting, diarrhea, abdominal distension, hepatosplenomegaly and bilateral adrenal calcification and is nearly always fatal before the age of 1?year. Barring a case report of isolated fetal ascites, there is no report of intractable ascites as the presentation of WD till date. We report two siblings with WD who both had intractable ascites and required therapeutic paracentesis, albumin infusion, and diuretics to control tense ascites. Although rare, WD should be considered in the differential diagnosis of infantile ascites. 相似文献
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Jayesh Sardhara Sanjay Behari Awadhesh K. Jaiswal Arun Srivastava Rabi Narayan Sahu Anant Mehrotra Shubha Phadke Uttam Singh 《Acta neurochirurgica》2013,155(7):1157-1167
Background
This prospective study attempts to study the clinico-radiological differences between patients with syndromic AAD (SAAD), non-syndromic AAD (NSAAD), and AAD with Klippel–Feil anomaly (AADKFA) that may impact management.Methods
In 46 patients with AAD [SAAD (including Morquio, Down, Larson and Marshall syndrome and achondroplasia; n?=?6); NSAAD(n?=?20); and, AADKFS (n?=?20)], myelopathy was graded as mild (n?=?17, 37 %), moderate (15, 32.5 %) or severe (14, 30.5 %) based on Japanese Orthopaedic Association Score modified for Indian patients (mJOAS). Basilar invagination (BI), basal angle, odontoid hypoplasia, facet-joint angle, effective canal diameter, Ishihara curvature index, and angle of retroversion of odontoid and vertebral artery (VA) variations were also studied.Statistics
Clinico-radiological differences were assessed by Fisher’s exact test, and mean craniometric values by Kruskal–Wallis test (p value ≤?0.05 significant)Results
Incidence of irreducible AAD in SAAD (n?=?0), NSA AD (11.55 %) and AADKFS (n?=?18.90 %) showed significant difference (p?=?0.01). High incidence of kyphoscoliosis (83 %) and odontoid hypoplasia (83 %) in SAAD, and assimilated atlas and BI in NSAAD and AADKFA groups were found. In AADKFA, effective canal diameter was significantly reduced(p?=?0.017) with increased Ishihara index and increased angle of odontoid retroversion; 61 % patients had VA variations. Thirty-five patients underwent single-stage transoral decompression with posterior fusion (for irreducible AAD) or direct posterior stabilization (for reducible AAD). Postoperative mJOAS evaluation often revealed persistent residual myelopathy despite clinical improvement.Conclusions
Myelopathy is induced by recurrent cord trauma due to reducible AAD in SAAD, and compromised cervicomedullary canal diameter in NSAAD and AADKFA. SAAD in children may be missed due to incomplete odontoid ossification or coexisting angular deformities. In AADKFA, decisions regarding vertebral levels to be included in posterior stabilization should take into consideration intact intervening motion segments and compensatory cervical hyperlordosis. Following VA injury, endovascular primary vessel occlusion/stenting across pseudoaneurysm preempts delayed rehemorrhage. 相似文献35.
Neha Sanwalka Anuradha Khadilkar Shashi Chiplonkar Kavita Khatod Nikhil Phadke Vaman Khadilkar 《Journal of bone and mineral metabolism》2013,31(1):108-115
To study the association between vitamin D receptor (VDR) gene polymorphisms and bone mass indices in adolescent girls, a cross-sectional study was conducted in 120 post-menarchal girls aged 15–18 years in Pune city, India. Serum levels of ionised calcium, inorganic phosphorous, parathyroid hormone and 25-hydroxy vitamin-D were measured. Bone mineral content (BMC), bone area (BA) and bone mineral density (BMD) were measured at total body (TB), lumbar spine (LS) and left femoral neck (FN) using dual energy X-ray absorptiometry. Polymorphisms of the VDR gene at the Fok1 and Bsm1 loci were detected using SYBR Green quantitative polymerase chain reaction. The overall distribution of genotypes at the Bsm1 locus in this study was 33.3 % Bb, 29.2 % bb and 37.5 % BB while that for the Fok1 locus was 44.2 % Ff, 7.5 % ff and 48.3 % FF. There were no significant differences in the blood parameters when classified according to Bsm1 or Fok1 genotypes. Subjects with BB genotype have significantly higher mean TBBMC, TBBA, TBBMD and LSBMD than Bb and bb (p < 0.05) and showed a tendency for association with LSBMC and LSBA (p < 0.1). Subjects with Ff genotype showed a tendency for association with left FNBMC and FNBA (p < 0.1). Bsm1 genotype did not show an association with FN bone indices whereas Fok1 genotype did not show association with TB or LS bone indices. In conclusion, the present study demonstrates VDR gene polymorphism, defined by Bsm1 genotype, has an influence on total body and lumbar spine bone mass indices in post-menarchal Indian girls. 相似文献
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Nierman WC Feldblyum TV Laub MT Paulsen IT Nelson KE Eisen JA Heidelberg JF Alley MR Ohta N Maddock JR Potocka I Nelson WC Newton A Stephens C Phadke ND Ely B DeBoy RT Dodson RJ Durkin AS Gwinn ML Haft DH Kolonay JF Smit J Craven MB Khouri H Shetty J Berry K Utterback T Tran K Wolf A Vamathevan J Ermolaeva M White O Salzberg SL Venter JC Shapiro L Fraser CM Eisen J 《Proceedings of the National Academy of Sciences of the United States of America》2001,98(7):4136-4141
38.
Fahid Tariq Rasul Zane Jaunmuktane Akbar Ali Khan Rahul Phadke Michael Powell 《Acta neurochirurgica》2014,156(1):141-146
Plurihormonal pituitary adenomas are tumours that show immunoreactivity for more than one hormone that cannot be explained by normal adenohypophysial cytodifferentiation. The most common combinations in these adenomas include growth hormone (GH), prolactin (PRL) and one or more glycoprotein hormone sub-units (β-TSH, β-FSH, β-LH and αSU). The authors report two cases of a plurihormonal pituitary adenoma expressing the rare combination of ACTH and GH. They both underwent successful transphenoidal hypophysectomy (TSH). Long-term post-operative follow-up revealed no evidence of tumour recurrence. Due to the multiple secretions and plurihormonal characteristics clinical diagnosis of composite pituitary adenomas can be difficult. The authors discuss the diagnosis and management of composite pituitary adenomas and review the literature regarding this rare phenomenon. 相似文献
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