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| 1 | Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families显示文摘AIM: To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS: We report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classifi cation of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction (PCR). The PCR products were screened for mutations and the aberrant products noted on screening were sequenced. RESULTS: Four separate ATP7B mutations were found in the four families. ATP7B mutations were identical amongst affected members within each family. Three families had homozygous mutations of ATP7B gene while one family had compound heterozygous mutation, of which only one mutation was identifi ed. We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms or of detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levels were also similar in affected members of each family. Minor differences in phenotype and baseline serum ceruloplasmin level were noted in one family.CONCLUSION: We report concordance between ATP7B mutation and WD phenotype within each family with > 1 member affected with WD. Homozygous ATP7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as a determinant of WD phenotype. However, in one family with compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype. | S Santhosh RV Shaji CE Eapen V Jayanthi S Malathi P Finny N Thomas M Chandy G Kurian GM Chandy | 2008 | World Journal of Gastroenterology2008,14,29: | 3 |
| 2 | Total hip arthroplasty in fused hips with spine stiffness in ankylosing spondylitis显示文摘Ankylosing spondylitis(AS)is characterized by involvement of the spine and hip joints with progressive stiffness and loss of function.Functional impairment is significant,with spine and hip involvement,and is predominantly seen in the younger age group.Total hip arthroplasty(THA)for fused hips with stiff spines in AS results in considerable improvement of mobility and function.Spine stiffness associated with AS needs evaluation before THA.Preoperative assessment with lateral spine radiographs shows loss of lumbar lordosis.Spinopelvic mobility is reduced with change in sacral slope from sitting to standing less than 10 degrees conforming to the stiff pattern.Care should be taken to reduce acetabular component anteversion at THA in these fused hips,as the posterior pelvic tilt would increase the risk of posterior impingement and anterior dislocation.Fused hips require femoral neck osteotomy,true acetabular floor identification and restoration of the hip center with horizontal and vertical offset to achieve a good functional outcome.Cementless and cemented fixation have shown comparable long-term results with the choice dependent on bone stock at THA.Risks at THA in AS include intraoperative fractures,dislocation,heterotopic ossification,among others.There is significant improvement of functional scores and quality of life following THA in these deserving young individuals with fused hips and spine stiffness. | Anil Thomas Oommen Triplicane Dwarakanathan Hariharan Viruthipadavil John Chandy Pradeep MathewPoonnoose Arun Shankar A Roncy Savio Kuruvilla Jozy Timothy | 2021 | World Journal of Orthopedics2021,12,12: | 2 |
| 3 | Chitosan/Calciun alginate beads for oral delivery of insu;in 显示文摘 | Hari PR Thomas Chandy Chandra P Shamla | 1996 | Journal of Applied Polymer Science1996,59,: | 1 |
| 4 | Chitosan/Polyethyleneglycol anginate microcapsules for oral deliver yofhirudin 显示文摘 | Thomas Chandy Daniel L Moolradian | 1998 | Journal of Applied Polymer Science1998,70,: | 1 |
| 5 | Krukenberg tumor of ovary with features of mucinous cystadenocarcinoma 显示文摘 | Thomas S Chandi SM | 1999 | Indian J Cancer1999,36,24: | 1 |
| 6 | Chitosan/Calciun - alginate beads for oral delivery of insulin显示文摘 | Hari PR Thomas Chandy Chandra P Sharma | 1996 | Journal of Applied Polymer Science1996,59,11: | 1 |
| 7 | Chitosan/Polythylene glycol - alginate microeapsules for oral delivery of hiruin显示文摘 | Thomas Chandy Daniel L Mooradian | 1998 | Jpurnal of Applied Polymer Science1998,70,: | 1 |
| 8 | Chitsan/calcium alginate mieroeapsules for intestinal delivery of nitrofurantoin显示文摘 | Itari PR Thomas Chandy Chandra P Sharma | 1996 | J Microencap sul1996,13,3: | 1 |
| 9 | Functional and clinical outcome with modified lateral approach total hip arthroplasty in stiff hips with ankylosing spondylitis显示文摘BACKGROUND Ankylosing spondylitis at total hip arthroplasty(THA)has significant hip stiffness with flexion deformity,restricted mobility,and function.Range of movement(ROM)improvement with good functional outcome is seen following THA in these hips.The modified Hardinge approach without abductor compromise is helpful in these stiff hips with associated flexion deformity.AIM To assess improvement in ROM and functional outcomes with a modified lateral approach THA in ankylosing spondylitis with stiff hips.METHODS A total of 69 hips that underwent THA with a modified Hardinge approach in 40 patients were evaluated at a mean follow-up of 38.33 mo.All individuals ambulated with weight-bearing as tolerated and ROM exercises from the 1st postoperative day.Modified Harris hip score and ROM were assessed during follow-up.Quality of life assessments using the 36-item and 12-item short form health surveys were done along with clinical and functional outcomes at followup.SPSS 22.0 was used for statistical analysis.The correlation of ROM and functional score change was performed using Pearson’s correlation coefficient.RESULTS Sixty-nine hips with a significant decrease in ROM preoperatively with 32 clinically fused hips showed significant improvement in flexion range.The mean flexion in 69 hips improved from 29.35±31.38 degrees to 102.17±10.48 degrees.The mean difference of 72.82 with a P value<0.0001 was significant.In total,45 out of 69 hips had flexion deformity,with 13 hips having a deformity above 30 degrees.The flexion during the follow-up was below 90 degrees in 3 hips.Eleven hips had flexion of 90 degrees at follow-up,while the remaining 55 hips had flexion above 100 degrees.Modified Harris hip score improved from 17.03±6.02 to 90.66±7.23(P value<0.0001).The 36-item short form health survey at the follow-up indicated health status in 40 patients as excellent in 11,very good in 20,good in 5,fair in 3,and poor in 1.The mean mental health score was 84.10±11.58.Pain relief was good in all 69 hips.Altogether,28/40 patients(70%)had no pain,9 patients(22%)had occasional pain,and 3 patients(8%)had mild to moderate pain with unusual activity.Heterotopic ossification was seen in 21 hips with Brooker class 1 in 14 hips.CONCLUSION Modified Hardinge approach THA in ankylosing spondylitis with stiff hips with flexion deformity significantly improved ROM,Harris hip score,and quality of life indicated by the 36-item and 12-item short form health surveys. | Mathew Kiran Jacob Pavan Kumar Reddy Roncy Savio Kuruvilla Chandy Viruthapadavil John Pradeep Mathew Poonnoose Anil Thomas Oommen | 2022 | World Journal of Orthopedics2022,13,8: | 1 |
| 10 | 显示文摘 | Chandy P S | 1992 | J Appl Polym Scoi1992,44,: | 1 |
| 11 | 洛杉矶盆地密集地震台网显示文摘引言位于加州洛杉矶的密集强震区域(社区)地震台网(Community Seismic Network,CSN),目前由500个传感器组成(图1)。地震台网的传感器是低成本微机电(low-cost microelectromechanical,MEM)加速度计传感器,最大可以记录±2g的加速度。台网最初的主要产品是在大地震发生后几秒钟测量地面震动(图2)。 | Robert W.Clayton Thomas Heaton Monica Kohler Mani Chandy Richard Guy Julian Bunn 陈会忠(译) 张晁军(校) | 2019 | 国际地震动态2019,0,12: | 0 |