Sakai K.,Hokkaido University |
Akiyama M.,Hokkaido University |
Yanagi T.,Hokkaido University |
Nampoothiri S.,Amrita Institute of Medical science and Research Center |
And 3 more authors.
International Journal of Dermatology | Year: 2010
Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder characterized by congenital ichthyosis, mental retardation and spastic diplegia or tetraplegia. It is known that mutations in the fatty aldehyde dehydrogenase (FALDH) gene (ALDH3A2) underlie SLS. We report two Indian sisters showing typical clinical features of SLS. Direct sequencing of the entire coding region of ALDH3A2 revealed a novel homozygous mutation, c.142G>T (p.Asp48Tyr) in exon 1, in both patients. Their parents harbored the mutation heterozygously. Mutant-allele-specific amplification analysis using PCR products as a template verified the mutation in the patients. The aspartic acid residue at the mutation site is located in the C-terminal portion of the second a-helix strand, a2, of N-terminal four helices of FALDH and the FALDH amino-acid sequence alignment shows that this aspartic acid residue is conserved among several diverse species. Until now, a number of mutations in ALDH3A2 have been shown to be responsible for SLS in Europe, the Middle East, Africa, and North and South America. However, in Asian populations, ALDH3A2 mutations have been identified only in Japanese SLS patients. Here we report an ALDH3A2 mutation for the first time in SLS patients in the Asian country other than Japan. The present results suggest that ALDH3A2 is a gene responsible for SLS in Asian populations. We hope ALDH3A2 mutation search will be globally available including many Asian countries in the future. © 2010 The International Society of Dermatology. Source
Singh A.K.,Harvard University |
Farag Y.M.K.,Harvard University |
Mittal B.V.,Harvard University |
Subramanian K.K.,Harvard University |
And 22 more authors.
BMC Nephrology | Year: 2013
Background: There is a rising incidence of chronic kidney disease that is likely to pose major problems for both healthcare and the economy in future years. In India, it has been recently estimated that the age-adjusted incidence rate of ESRD to be 229 per million population (pmp), and >100,000 new patients enter renal replacement programs annually. Methods. We cross-sectionally screened 6120 Indian subjects from 13 academic and private medical centers all over India. We obtained personal and medical history data through a specifically designed questionnaire. Blood and urine samples were collected. Results: The total cohort included in this analysis is 5588 subjects. The mean ± SD age of all participants was 45.22 ± 15.2 years (range 18-98 years) and 55.1% of them were males and 44.9% were females. The overall prevalence of CKD in the SEEK-India cohort was 17.2% with a mean eGFR of 84.27 ± 76.46 versus 116.94 ± 44.65 mL/min/1.73 m2 in non-CKD group while 79.5% in the CKD group had proteinuria. Prevalence of CKD stages 1, 2, 3, 4 and 5 was 7%, 4.3%, 4.3%, 0.8% and 0.8%, respectively. Conclusion: The prevalence of CKD was observed to be 17.2% with ∼6% have CKD stage 3 or worse. CKD risk factors were similar to those reported in earlier studies.It should be stressed to all primary care physicians taking care of hypertensive and diabetic patients to screen for early kidney damage. Early intervention may retard the progression of kidney disease. Planning for the preventive health policies and allocation of more resources for the treatment of CKD/ESRD patients are imperative in India. © 2013 Singh et al.; licensee BioMed Central Ltd. Source
Abraham G.P.,Lakeshore Hospital |
Das K.,Lakeshore Hospital |
Ramaswami K.,PVS Memorial Hospital |
George D.P.,Urology |
And 2 more authors.
Indian Journal of Urology | Year: 2011
Context: Influence of timing of repair on outcome following laparoscopic reconstruction of lower ureteric strictures Aims: To assess the influence of timing of repair on outcome following laparoscopic reconstruction of lower ureteric strictures in our adult patient population. Settings and Design: Single surgeon operative experience in two institutes. Retrospective analysis. Materials and Methods: All patients were worked up in detail. All patients underwent cystoscopy and retrograde pyelography prior to laparoscopic approach. Patients were categorised into two groups: early repair (within seven days of inciting event) and delayed repair (after two weeks). Operative parameters and postoperative events were recorded. Postprocedure all patients were evaluated three monthly. Follow-up imaging was ordered at six months postoperatively. Improvement in renal function, resolution of hydronephrosis and unhindered drainage of contrast through the reconstructed unit on follow-up imaging was interpreted as a satisfactory outcome. Statistical Analysis Used: Mean, standard deviation, equal variance t test, Mann Whitney Z test, Aspin-Welch unequal variance t test. Results: Thirty-six patients (37 units, 36 unilateral and 1 simultaneous bilateral) underwent laparoscopic ureteral reconstruction of lower ureteric stricture following iatrogenic injury - 21 early repair (Group I) and 15 delayed repair (Group II). All patients were hemodynamically stable at presentation. Early repair was more technically demanding with increased operation duration. There was no difference in blood loss, operative complications, postoperative parameters, or longterm outcome. Conclusions: In hemodynamically stable patients, laparoscopic repair of iatrogenically induced lower ureteric strictures can be conveniently undertaken without undue delay from the inciting event. Compared to delayed repairs, the procedure is technically more demanding but morbidity incurred and outcome is at par. Source
Abraham G.P.,Lakeshore Hospital and Research Center |
Das K.,Lakeshore Hospital and Research Center |
Ramaswami K.,PVS Memorial Hospital |
Siddaiah A.T.,Lakeshore Hospital and Research Center |
And 3 more authors.
Journal of Endourology | Year: 2012
Purpose: To narrate our experience with laparoscopic reconstruction of obstructive megaureter (MGU) and assess the intermediate-term outcome achieved. Patients and Methods: Patients were evaluated in detail including presenting complaints, biochemical profile, and imaging (ultrasonography [USG], diuretic renography [DR], magnetic resonance urography [MRU], and voiding cystourethrography [VCUG]). All patients with a diagnosis of obstructive MGU and salvageable renal unit were offered laparoscopic reconstruction. The standard laparoscopic exercise included ureteral adhesiolysis until the pathologic segment, dismemberment, straightening of the lower ureter, excisional tapering, and a nonrefluxing ureteroneocystostomy. Operative and postoperative parameters were recorded. Patients were evaluated postprocedure on a 3-month schedule. Follow-up imaging included USG and VCUG at 6 months and 1 year postprocedure and then at yearly intervals. MRU and DR were repeated at 1 year postprocedure. Results: Twelve patients (13 units-11 unilateral, and 1 bilateral) underwent laparoscopic tailoring and reimplantation for obstructive MGU. Mean age was 98.6 months. All patients were male. Mean body mass index was 17.69 kg/m 2. Presenting complaints were flank pain (n=8) and recurrent urinary infection (n=12). All procedures were completed via a laparoscopic approach. Mean operation duration was 183 minutes, and mean blood loss was 75 mL. Mean duration of hospital stay was 2.1 days. No major intraoperative or postoperative happenings were recorded. All patients were asymptomatic at follow-up with stable renal profile. Follow-up MRU revealed a decrease in ureteral and upper tract dilatation with satisfactory drainage in all. Follow-up VCUG demonstrated grade I vesicoureteral reflux in one patient. Eight patients completed 3-year follow-up with a satisfactory outcome. Conclusion: Laparoscopic reconstruction of obstructive MGU offers satisfactory immediate- and intermediate-term outcome without undue prolonged morbidity. Copyright © 2012, Mary Ann Liebert, Inc. 2012. Source
Kamalesh N.P.,PVS Memorial Hospital |
Prakash K.,PVS Memorial Hospital |
Ramesh G.N.,PVS Memorial Hospital
Indian Journal of Surgery | Year: 2016
Percutaneous endoscopic gastrostomy (PEG) is a relatively safe and effective method of providing nutrition to patients with neurologic deficits or proximal gastrointestinal pathology. Complications that follow this common procedure include dislodgement, dysfunction, infection, gastric/colonic perforation, bleeding, peritonitis, or death. The emergency physician should be aware of the complications and symptoms/signs associated for appropriate management of these patients. We present a case of a young lady who developed a cerebral infarction following amniotic fluid embolism during her cesarean section and had undergone a PEG tube placement. She developed displacement of this PEG tube and underwent another PEG tube placement. She later presented to us with PEG tube migration into the transverse colon and required surgical removal of the same PEG tube. © 2015, Association of Surgeons of India. Source