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Myotonic dystrophy type 1 (DM1) is a heterogeneous multisystemic disease caused by a CTG repeat expansion in DMPK. Transcription of the expanded allele produces toxic CUG repeat RNA that sequesters the MBNL family of alternative splicing (AS) regulators into ribonuclear foci, leading to pathogenic mis-splicing. To identify genetic modifiers of toxic CUG RNA levels and the spliceopathy, we performed a genome-scale siRNA screen using an established HeLa DM1 repeat-selective screening platform. We unexpectedly identified core spliceosomal proteins as a new class of modifiers that rescue the spliceopathy in DM1. Modest knockdown of one of our top hits, SNRPD2, in DM1 fibroblasts and myoblasts, significantly reduces DMPK expression and partially rescues MBNL-regulated AS dysfunction. While the focus on the DM1 spliceopathy has centered around the MBNL proteins, our work reveals an unappreciated role for MBNL:spliceosomal protein stoichiometry in modulating the spliceopathy, revealing new biological and therapeutic avenues for DM1., (© The Author(s) 2024. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Introduction: In recent years, major findings on concomitant procedures and anticoagulation management have occurred in Mitral Valve (MV) surgery. Therefore, we sought to evaluate the current practices in MV interventions across Europe., Methods: In October 2021, all national cardio-thoracic societies in the European region were identified following an electronic search and sent an online survey of 14 questions to distribute among their member consultant/attending cardiac surgeons., Results: The survey was completed by 91 consultant/attending cardiac surgeons across 12 European countries, with 78% indicating MV repair as their specialty area. 57.1% performed >150 operations/year and 71.4% had 10+ years of experience.Concomitant tricuspid valve repair is performed for moderate tricuspid regurgitation (TR) by 69% of surgeons and for mild TR by 26.3%, both with annular diameter >40 mm. 50.6% indicated ischaemic MV surgery in patients undergoing CABG if moderate mitral regurgitation with ERO >20 mm 2 and regurgitant volume >30 mL, and 45.1% perform it if severe MR with ERO >40 mm 2 and regurgitant volume >60 mL. For these patients the preferred management was: MVR if predictors of repair failure identified (47.2%) and downsizing annuloplasty ring only (34.1%).For atrial fibrillation (AF) in cardiac surgery, 34.1% perform ablation with biatrial lesion and 20% with left sided only. 62.6% perform concomitant Left Atrial Appendage (LAA) Occlusion irrespective of AF ablation with a left atrial clip. A wide variability in anticoagulation strategies for MV repair and bioprosthetic MV valve was reported both for patients in sinus rhythm and AF., Conclusion: These results demonstrate a variable practice for MV surgery, and a degree of lack of compliance with surgical intervention guidelines and anticoagulation strategy., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Given the variety in mitral valve (MV) pathology and associated surgical techniques, extended reality (XR) holds great potential to assist MV surgeons. This review aims to systematically evaluate the currently available evidence investigating the use of XR and associated technologies in MV surgery., Methods: A systematic database search was conducted of original articles and case reports that explored the use of XR and MV surgery in EMBASE, MEDLINE, Cochrane database and Google Scholar, from inception to February 2022., Results: Our search yielded 171 articles, of which 15 studies were included in this review, featuring 328 patients. Two main areas of application were identified: (i) pre-operative planning and (ii) predicting post-operative outcomes. The articles reporting outcomes relating to pre-operative planning were further categorised as exploring themes relevant to (i) mitral annular assessment; (ii) training; (iii) evaluation of surgical technique; (iv) surgical approach or plan and (v) selecting ring size or type. Preoperatively, XR has been shown to evaluate mitral annular pathology more accurately than echocardiography, informing the surgeon about the optimal surgical technique, approach and plan for a particular patient's MV pathology. Furthermore, XR could simulate and aid ring size/type selection for MV annuloplasty, creating a personalized surgical plan. Additionally, XR could estimate the postoperative MV biomechanical and physiological characteristics, predicting and pre-empting post-operative complications., Conclusion: XR demonstrated promising applications for assisting MV surgery, enhancing outcomes and patient-centred care, nevertheless, there remain the need for randomized studies to ascertain its feasibility, safety, and validity in clinical practice., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Competing Interests: There are no conflicts of interest.

Objective: Redo mitral valve surgery has traditionally been performed via a median sternotomy. It is often challenging and is associated with increased perioperative mortality. Advances in cardiac surgical techniques over the last two decades have led to an increase in the use of a minimally invasive approach via a right anterolateral mini-thoracotomy as opposed to a repeat median sternotomy. However, despite these advances, there is no general consensus on the best form of entry, and as of yet, there are no randomized controlled trials. We performed a meta-analysis of observational studies to aid in determining the best approach for redo mitral valve surgery., Method: The MEDLINE and EMBASE databases were conducted up until 1 June 2020. Data regarding mortality, stroke, reoperation for bleeding and length of hospital stay, wound infection and cardiopulmonary bypass time were extracted and submitted to a meta-analysis using random effects modelling and the I 2 -test for heterogeneity. Seven retrospective observational studies were included, enrolling a total of 1070 patients., Results: There were a total of 1070 patients. Of these 364 had non-sternotomy approach compared with 707 patients who had median sternotomy. Further subgroup analysis revealed that 327 of the 364 patients had a mini-thoracotomy approach while the remaining 37 patients had a full thoracotomy approach. In-hospital mortality and length of stay were less in non-sternotomy group compared to median sternotomy group. There were no differences in stroke, CPB time and wound infections between the two groups., Conclusion: Redo mitral valve surgery can be performed safely with satisfactory outcomes via a mini-thoracotomy approach. This meta-analysis shows comparable results with reduced in-hospital mortality and hospital length of stay with a mini-thoracotomy approach.

Objectives: Pediatric patients implanted with a durable ventricular assist device are initially managed in the pediatric cardiac ICU but are eligible for discharge to the ward. Our objectives were to characterize discharge and readmission of ventricular assist device patients to the pediatric cardiac ICU, identify risk factors for readmission, and determine whether discharge or readmission is associated with mortality., Design: Retrospective study., Setting: Stollery Children's Hospital., Patients: Patients implanted with a durable ventricular assist device at less than 18 years old between 2005 and 2016., Interventions: None., Measurements and Main Results: There were 44 patients who underwent ventricular assist device implantation at a median age of 3.7 years (interquartile range, 0.6-9.0 yr), with the most common etiology being noncongenital heart disease (76.7%). Median time of total ventricular assist device support was 110.0 days (interquartile range, 42.3-212.3 d) with the median index pediatric cardiac ICU stay being 34.0 days (interquartile range, 19.8-81.0 d). Thirty patients (68.0%) were discharged to the ward with 18 (60.0%) having at least one readmission. The median time to first readmission was 18.0 days (interquartile range, 14.8-109.8 d) with a median of two readmissions per patient (interquartile range, 1.0-3.0). The most common reason for readmission was pump thrombosis (30.4%), followed by neurologic dysfunction (23.9%). There were no statistically significant pre- or post-implant factors associated with readmission, and readmission was not associated with mortality (p = 0.600). Univariate Kaplan-Meier survival analysis indicated that use of pre-implant extracorporeal membrane oxygenation, post-implant continuous renal replacement therapy, as well as failure to be discharged from the index pediatric cardiac ICU stay were associated with mortality., Conclusions: Readmissions to the pediatric cardiac ICU occurred in 60.0% of pediatric patients on durable ventricular assist devices with the first readmission occurring within a month of discharge from the index pediatric cardiac ICU stay. While readmission was not associated with mortality, lack of discharge from index pediatric cardiac ICU stay was likely due to a worse pre-implant clinical status.

Distribution and ecological risks of Phthalic acid esters (PAEs) are poorly studied in estuarine environments in India. An attempt is made to chart the sources and assess the ecological risk of six PAE congeners (∑ 6 PAEs), present in dissolved and particulate forms in a tropical ecosystem (Cochin Estuary, India). Terrestrial input, as attested by a clear seasonality with substantial enrichment during monsoon (2-28 μg/L and 31-1203 μg/g; dissolved and particulate PAEs respectively) and post-monsoon (1-7 μg/L and 7-321 μg/g; dissolved and particulate PAEs respectively), was identified as the primary source. DnBP (di-n-butyl phthalate) and DEHP (diethylhexyl phthalate) were found to be the dominant species except for dissolved PAEs at pre-monsoon season. Statistical analysis identified two major clusters, in the ∑ 6 PAEs, composed of medium to high molecular weight PAEs (derived from plastic products) and low molecular weight PAEs (derived from cosmetic products). Calculated Risk Quotient (RQ) indicated values indicated moderate to high ecological risk for DnBP and DEHP congeners is a grim pointer to their detrimental effects on human health through consumption of contaminated organisms. Although substantial enrichment of suspended matter gets flushed out of the estuary during monsoon, there is a net PAE accumulation in the estuary during post-monsoon following an increased sedimentary restitution. Data of PAEs generated herein raises a challenge for immediate enactment of statutory legislation to curb and regulate hazardous contamination of estuaries by phthalic acid esters., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Artistic creativity can emerge in patients with Parkinson's disease. Here we describe two patients who had creative awakening while on levodopa treatment for Parkinson's disease and discuss its implications., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Phthalic acid esters (PAEs) are a group of endocrine-disrupting chemicals listed as priority pollutants by United States Environmental Protection Agency (USEPA, 2009). This study provides baseline information on seasonal distribution and contamination status of six phthalic acid esters (∑ 6 PAEs) in sediments of a tropical estuary (Cochin-India). In general, the sediments accumulated more PAEs during the post monsoon (mean 2325 ngg -1 ; between 1402 and 3121 ngg -1 ) and monsoon (mean 1372 ngg -1 ; between 331 and 4015 ngg -1 ) periods indicating land run off as the major transport pathway. Moderate run off and comparatively high residence time lead to effective sorption and settling of PAEs in the surface sediments during post monsoon season. Despite a high discharge of PAEs in to the water column, their deposition on to the sediments occurs at a lower rate during monsoon than that post monsoon season. PAEs were (mean 810 ngg -1 ; between 44 and 1722 ngg -1 ) lowest in pre monsoon season. The pre monsoon season is characterized by a minimal runoff consequent to the trapping of these organic pollutants in the river catchment area. The mid and high molecular PAEs (DEHP-Di ethylhexyl phthalate, BBP-Benzyl butyl phthalate and DnBP-Di-n-butyl phthalate) were the dominant congeners relative to the low molecular weight congeners (DMP-Dimethyl phthalate and DEP-Diethyl phthalate). DEHP and BBP levels exceeded permissible risk levels indicating a serious ecological hazard to the estuarine ecosystem., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Introduction: In the management of cloaca, there is concern that dissection of the urogenital sinus in early childhood with the aim of total anatomical correction is hazardous. Avoiding such mobilization and providing mitrofanoff channel, when needed, till peripubertal period reduces complications and is technically easier., Materials and Methods: Forty-three cases of cloaca were managed in the period 2004-2016. Case records and radiology were reviewed retrospectively. The follow-up evaluation was done by looking into voiding history, bowel movements, and menstruation history., Results: There were three groups of children, namely, those with no reconstruction done elsewhere except a diverting fecal stoma (Group I, n = 25), those who had undergone anorectal correction elsewhere with no attempt at urogenital reconstruction (Group IIA, n = 13), and those with attempted bowel and genitourinary reconstruction elsewhere (Group IIB, n = 5). The Group I children (one still awaiting reconstruction) underwent early rectal reconstruction followed by expectant management of the urogenital apparatus. The 18 referred cases had multiple problems, chiefly urogenital, of congenital or iatrogenic origin. While urinary reconstruction included bladder augmentation, ileal neobladder, bladder neck closure, and ureteric reimplantation, the foundation of urinary management was intermittent catheterization through mitrofanoff stoma and the avoidance of any dissection of the cloacal common channel. Surgery on the genital tracts included drainage of hydrocolpos, perineal surgery for low vaginae and abdominoperineal vaginoplasty for high vaginae in the peripubertal period with or without bowel supplementation. Spontaneous voiding was maintained in 17 of 25 (68%) Group I girls (including one death later from intestinal complications), 7 of 13 (54%), Group IIA girls, and 1 of 5 (20%) Group IIB girls. Painless menstruation was noted in eight postpubertal girls, three through the cloacal channel (awaiting reconstruction) and five through the reconstructed vagina. Most of the children are on a bowel management program for fecal cleanliness with washouts through the neoanus or Malone's stoma., Conclusion: We report a nonconventional approach to cloaca based on avoiding dissection of or around the common channel for urethrovaginal reconstruction, opting for mitrofanoff stoma for intermittent catheterization, when needed, and late vaginal reconstruction. We believe this approach has reduced the overall need for intermittent catheterization., Competing Interests: There are no conflicts of interest.

A best evidence topic was constructed according to a structured protocol. The question addressed was whether (18)F-fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) aids the diagnosis of prosthetic valve endocarditis (PVE)? A total of 107 publications were found using the reported search, of which 6 represented the best evidence to answer the clinical question. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes and results of these papers are tabulated. The reported outcome of all studies was a final diagnosis of confirmed endocarditis on follow-up. All the six studies were non-randomized, single-centre, observational studies and thus represented level 3 evidence. The diagnostic capability of PET/CT for PVE was compared with that of the modified Duke Criteria and echocardiography, and reported in terms of sensitivity, specificity and positive and negative predictive values. All studies demonstrated an increased sensitivity for the diagnosis of PVE when PET/CT was combined with the modified Duke Criteria on admission. A higher SUVmax on PET was found to be significantly associated with a confirmed diagnosis of endocarditis and an additional diagnostic benefit of PET/CT angiography over conventional PET/non-enhanced CT is reported due to improved anatomical resolution. However, PET/CT was found to be unreliable in the early postoperative period due to its inability to distinguish between infection and residual postoperative inflammatory changes. PET/CT was also found to be poor at diagnosing cases of native valve endocarditis. We conclude that PET/CT aids in the diagnosis of PVE when combined with the modified Duke Criteria on admission by increasing the diagnostic sensitivity. The diagnostic ability of PET/CT can be potentiated by the use of PET/CTA; however, its use may be unreliable in the early postoperative period or in native valve endocarditis., (© The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Introduction: Osteoporosis is a serious condition affecting up to 50% of Indian postmenopausal women. Denosumab reduces bone resorption by targeting the receptor activator of nuclear factor-κB ligand. This study assessed the efficacy and safety of denosumab in Indian postmenopausal women with osteoporosis., Materials and Methods: In this double-blind, multicenter, phase 3 study, 250 Indian postmenopausal women aged 55 to 75 years (T-score <-2.5 and >-4.0 at the lumbar spine or total hip; serum 25(OH) D levels ≥20 ng/mL) were randomized to receive one subcutaneous dose of denosumab 60 mg or placebo. All subjects received oral calcium ≥1000 mg and vitamin D3 ≥ 400 IU daily. The primary end point was mean percent change in bone mineral density (BMD) at the lumbar spine from baseline to Month 6. Secondary end points included mean percent change from baseline in BMD at total hip, femoral neck, and trochanter at Month 6 and median percent change from baseline in bone turnover markers at Months 1, 3, and 6., Results: Total 225 subjects (denosumab = 111, placebo = 114) completed the six-month study. Baseline demographics were similar between groups. A 3.1% (95% confidence interval, 1.9%, 4.2%) increase favoring denosumab versus placebo was seen for the primary end point (P < 0.0001). Denosumab demonstrated a significant treatment benefit over placebo for the secondary end points. There were no fractures or withdrawals due to adverse events., Conclusions: Consistent with results from studies conducted in other parts of the world, denosumab was well tolerated and effective in increasing BMD and decreasing bone turnover markers over a six-month period in Indian postmenopausal women.

Background: HMG CoA (3-hydroxy-3-methylglutaryl coenzyme A) reductase inhibitors, or statins, have been associated with an improvement in outcomes after coronary artery surgery for some time; however, their role in isolated valve surgery (IVS) remains undetermined., Hypothesis: The pleiotropic effects of statins may produce similar beneficial effects on outcomes after IVS., Methods: A systematic review of the literature was performed investigating the role of statins in bioprosthetic valve replacement., Results: Nine observational studies (7 retrospective, 2 prospective) incorporating a total of 18 154 patients were found investigating the role of statin therapy in bioprosthetic valve replacement., Conclusions: There is presently insufficient evidence to recommend routine statin therapy in IVS, unless concomitant hypercholesterolemia or coronary artery disease is present. A prospective study clearly defining the dose, type, and duration of therapy is now required to finally clarify whether statins alone confer a postoperative benefit in these patients., (© 2013 Wiley Periodicals, Inc.)

Objective: To compare the efficacy of topical voriconazole and topical natamycin with that of intrastromal voriconazole and topical natamycin in patients with recalcitrant fungal keratitis., Design: Randomized clinical trial., Participants: Forty eyes of 40 patients with fungal keratitis (positive smear or culture results or both) larger than 2 mm, involving up to two thirds of the stromal depth, and not responding to topical natamycin therapy for 2 weeks were recruited., Intervention: The patients were randomized to receive either topical 1% voriconazole therapy (n = 20) or intrastromal injections of voriconazole 50 μg/0.1 ml (n = 20). The patients in both groups continued topical natamycin 5% every 4 hours until the ulcer healed., Main Outcome Measures: Primary outcome measure was best spectacle-corrected visual acuity (BSCVA) 3 months after intervention, and secondary outcome measures were time to healing and the size of the scar., Results: The patients in both groups had comparable baseline parameters. The mean BSCVA after treatment was 1.295 ± 0.5 logarithm of the minimum angle of resolution (logMAR) units in the topical group and 1.692 ± 0.29 logMAR units in the intrastromal group. The visual acuity after treatment was significantly better in the topical voriconazole group (P = 0.008). Nineteen patients receiving topical voriconazole and 16 patients who were given intrastromal voriconazole healed with therapy., Conclusions: Topical voriconazole seems to be a useful adjunct to natamycin in fungal keratitis not responding to topical natamycin. Intrastromal injections did not offer any beneficial effect over topical therapy., (Copyright © 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: To determine the degree of stress in parents of children operated for intermediate anorectal malformations, and their quality of life (QOL) at follow-up., Methods: Forty-two of the 166 children who had undergone a sacroperineal pullthrough operation for an intermediate type of anorectal malformation, between 1996 and 2005, in the department of paediatric surgery at Christian Medical College, Vellore, responded to follow-up. The psychosocial well-being of the parents and the QOL of the children were assessed by an independent observer., Results: The main factor which aggravated the stress and caused dissatisfaction with the final outcome was fecal soiling. Mothers bore the brunt of the care of these children, with some help from the fathers and grandparents. The QOL was also significantly affected by soiling, and improvement in soiling resulted in a dramatic improvement in the QOL., Conclusion: Managing fecal soiling aggressively in the child with anorectal malformation, and providing social support to the family, are crucial for achieving a better QOL in these children and their families.

Reaction of the amido-bridged zirconium complex (CpSiMe(2)NSiMe(2)Cp)ZrCH(3) (1) (Cp = C(5)H(4)) with half an equivalent of B(C(6)F(5))(3) or Ph(3)CB(C(6)F(5))(4) afforded the binuclear zirconium complexes [(CpSiMe(2)NSiMe(2)Cp)Zr)(2)(mu-CH(3))][RB(C(6)F(5))(3)] (2a, R = CH(3), 2b, R = C(6)F(5)) with a methyl group as the bridge between the two zirconium atoms. In the presence of one equivalent of B(C(6)F(5))(3) or Ph(3)C(C(6)F(5))(4), 1 was transformed to the zwitterionic complexes [(CpSiMe(2)NSiMe(2)Cp)Zr][RB(C(6)F(5))(3)] (3a, R = CH(3), 3b, R = C(6)F(5)) which are free of a metal-bound sigma-alkyl ligand. 2b is stable with Me(3)Al while 3b combined with Me(3)Al to form a hetero-binuclear complex [(CpSiMe(2)NSiMe(2)Cp)Zr(mu-CH(3))]Al(CH(3))(2)][B(C(6)F(5))(4)] (4) as shown by NMR spectroscopy at room temperature. Treatment of 2a or 3a with an excess of Me(3)Al led to (CpSiMe(2)NSiMe(2)Cp)Zr(C(6)F(5)) (5) through a group exchange process. 2b, 3a and 5 have been characterized by X-ray diffraction studies. 2b, 2b, 3a and 3b were highly active catalysts for ethylene polymerization and copolymerization with 1-octene in the presence of trialkylaluminium, but the binuclear zirconium complexes (2a and 2b) showed higher activities than their mononuclear counterparts 3a and 3b. Polymerization activities varied with the trialkylaluminiums and increased with the trialkylaluminium concentration applied in the system. The product existed mainly in the form of Al(PE)(3) with polymeric chains, and its molecular weight and distribution were greatly influenced by the type and amount of trialkylaluminium applied in the catalytic system.

To facilitate the assessment of the safety profile of rotavirus vaccines effectively, baseline data on intussusception are important for comparison with intussusception rates following the introduction of vaccine. The aim of the study was to describe epidemiological and clinical features of intussusception in children aged less than five years in an Indian medical facility. Hospital data on intussusception for children discharged during 1 January 2001-30 June 2004 from the Christian Medical College Hospital, Vellore, India, were reviewed. Relevant information was extracted from medical records to classify cases according to the criteria of the Brighton Collaboration Intussusception Working Group. Complete review of medical records for clinical and demographic information was only performed for those cases fulfilling level 1 diagnostic certainty (definite intussusception) (Study ID 101245). During the surveillance period, 31 infants and children with definite intussusception were identified. The majority (61.2%) of the cases occurred in the first year of life. The male : female ratio was 3.4 : 1. Intussusception cases occurred round the year with no distinct seasonality. No intussusception-associated death was recorded. This study provides baseline data on intussusception in South India. Cases identified in the study were similar in presentation and demographics as those observed in other Asian settings. Prospective surveillance systems, using standardized case definitions will further increase the understanding of the aetiology and epidemiology of intussusception, especially as new rotavirus vaccines are made available.

Aim: Cervicovaginal or vaginal agenesis with functioning endometrial tissue is rare. We report the construction of a colon conduit which is anastomosed to posterior uterine wall or upper vaginal pouch to allow menstruation., Materials and Methods: We report seven girls with cervicovaginal agenesis and four with lower vaginal agenesis (aged 12-20 years) who presented with painful cryptomenorrheoa. All the girls wanted to conserve their uterus and menstruate normally. A colon conduit was constructed for the egress of menstrual blood. The colon conduit was anastomosed to the posterior uterine wall in the seven girls with cervicovaginal agenesis and to the distended upper vaginal pouch in the four girls with vaginal agenesis. Utero-colonic neovaginal anastomosis was performed only after excising a circular portion of the posterior myometrium to prevent stenosis., Results: The colon conduit functioned effectively, providing an egress for regular painless menstruation. One patient had stenosis of the perineal neovaginal orifice for which dilations were done. One girl has married and reports satisfactory intercourse. The mean follow up is 2.2 years., Conclusions: This group of patients forms a separate subgroup needing a conduit not only for sexual function but also for menstruation. However, if treated by the method described herein, they should be cautioned against pregnancy if they have cervicovaginal agenesis and against vaginal delivery if they have vaginal agenesis.

Aim: To review cases of congenital ureteric stenosis treated in the period between 1999 and 2007. We propose to analyze the type of presentation, management and results., Material and Methods: We report 17 children aged 20 days to 8 years with obstructive uropathy due to congenital stenosis of the ureter at one or more levels. This condition could be mistaken for the more common pelviureteric junction obstruction (PUJO) or primary megaureter, but it is a distinct and more serious anomaly. 13 of the 17 children had one or more associated anomalies, the most significant of which was a contralateral multicystic dysplastic kidney. Other associated anomalies included PUJO, megacalyx, vesicoureteric reflux, urogenital sinus, duplicate vagina, anorectal malformation and agenesis of the bladder. 16 children were symptomatic at presentation, with uremia (serum creatinine >1 mg/dl) in 5, while 1 was diagnosed antenatally. The correct preoperative diagnosis was made in only three children. Reconstruction included ureteroureteral anastomosis, ureteric reimplantation or ureteral substitution., Results: There is follow up for 15 of the 17 patients. Length of follow up ranges from 1 to 7 years (average 2.7 years). There was satisfactory urinary drainage established in all 17 cases and uremia has resolved 3 of the 5 children. The children with solitary functioning kidney are at risk of uremia in later life., Conclusion: Congenital ureteric stenosis is a rare condition, but distinct anomaly with possible grave consequence and has been distinguished from other causes of congenital ureteric obstruction.

Foreign medical service trips, though worthy, raise questions about efficacy, durability, and cultural sensitivity. A structured intervention by a multidisciplinary team can lead to sustained and integrated changes in the delivery of burn care. The American Burn Association, Children's Burn Foundation, and other donors have sponsored four interventions with the Pediatric Burn Center at Christian Medical Center in Vellore, India. Using qualitative research methods, we report our interventions and changes in burn care in Vellore. Using a multifaceted intervention over 2 years, there are skilled and practiced changes in burn care in Vellore, India. These changes involved changes in medical care, nursing care, wound care, operative timing, patient activity, and rehabilitation. Protocols and student and staff education tools have been developed and implemented. Major changes in burn care were observed by the visiting burn team. These skills are practiced and routinely used. The Vellore burn team reports an improvement in nursing satisfaction, patient tolerance, cleanliness, decreased antibiotic use, earlier excision and grafting, and more efficient care. Educational partnerships to improve burn care can induce durable changes, regardless of local language, culture, resources, technology, and skill.

The American Burn Association, Children's Burn Foundation, and Christian Medical College in Vellore, India have partnered together to improve pediatric burn care in Southern India. We report the demographics and outcomes of burns in this center, and create a benchmark to measure the effect of the partnership. A comparison to the National Burn Repository is made to allow for generalization and assessment to other burn centers, and to control for known confounders such as burn size, age, and mechanism. Charts from the pediatric burn center in Vellore, India were retrospectively reviewed and compared with data in the American Burn Association National Burn Registry (NBR) for patients younger than 16 years. One hundred nineteen pediatric patients with burns were admitted from January 2004 through April 2007. Average age was 3.8 years; average total body surface area burn was 24%: 64% scald, 30% flame, 6% electric. Annual death rate was 10%, with average fatal total body surface area burn was 40%. Average lengths of stay for survivors was 15 days. Delay of presentation was common (45% of all patients). Thirty-five of 119 patients received operations (29%). Flame burn patients were older (6.1 years vs 2.6 years), larger (30 vs 21%), had a higher fatality rate (19.4 vs 7.7%), and more of them were female (55 vs 47%) compared with scald burn patients. Electric burn patients were oldest (8.3 years) and all male. When compared with data in the NBR, average burn size was larger in Vellore (24 vs 9%). The mortality rate was higher in Vellore (10.1 vs 0.5%). The average mortal burn size in Vellore was smaller (40 vs 51%). Electric burns were more common in Vellore (6.0 vs 1.6%). Contact burns were almost nonexistent in Vellore (0.9 vs 13.1%). The differences in pediatric burn care from developing health care systems to burn centers in the US are manifold. Nonpresentation of smaller cases, and incomplete data in the NBR explain many of the differences. However, burns at this center in Vellore, India were larger, and occurred to younger patients than burns that reported in the NBR. Individualized assessment of care systems are needed when implementing development plans.

Background: Ureteric replacement in part or in total is rarely needed in children. We present our experience in using the appendix to replace the ureter., Methods: A retrospective case note review was carried out at Sheffield Children's Hospital (UK), Ekta Institute of Child Health (Raipur, Chhattisgarh, India) and Christian Medical College Hospital (Vellore, India) of all cases of ureteric substitution using the appendix., Results: Ten patients were identified, operated in 2002-2007: seven males and three females with a median age of 2.5 years (range 2.5 months to 12 years). The reasons for ureteric replacement were traumatic ureteric avulsion (n=1), congenital ureteric stenosis (n=5), non-drainage following previous pyeloplasty for pelvi-ureteric junction obstruction (n=3) and ureteric stricture following reimplantation for vesico-ureteric reflux (n=1). The appendix was used in an anti-peristaltic manner in all cases, and in one case a transureteroureterostomy was performed. At a median follow up of 16months (1-72 months), all the patients were well except one whose kidney function had deteriorated., Conclusions: Total or partial replacement of the ureter using the appendix, even in the first year of life, preserved renal function in nine cases. Ureteric continuity can be successfully restored in children using the appendix.

Background: Graft reconstructions of the lateral collateral ligament, popliteus tendon, and popliteofibular ligament are frequently performed in conjunction with a reconstruction of the posterior cruciate ligament to restore knee stability. The purpose of this study was to determine the femoral fixation sites resulting in the optimum isometry of popliteus tendon, popliteofibular ligament, and lateral collateral ligament grafts in a knee with a reconstruction of the posterior cruciate ligament., Methods: Relative length changes (isometry measurements) were recorded between sutures fixed at femoral grid points and appropriate fibular or tibial graft tunnel sites; sites resulting in the least change in suture length as the knee was moved from 0 degrees to 90 degrees of flexion were identified as optimum isometric points. Bone blocks of Achilles tendon grafts were fixed with the midpoint of the tissue's leading edge adjacent to the optimum isometric point (optimum placement). Isometry measurements were repeated with a lateral collateral ligament graft placed in a fibular tunnel and with popliteus tendon and popliteofibular ligament grafts alternately placed in appropriate tibial and fibular tunnels. The graft isometry measurements were then repeated with the bone block centered over the femoral footprint of the lateral collateral ligament or popliteus tendon., Results: For all reconstructions, there was no difference between the relative length changes of the suture placed at the optimum isometric point and the relative length changes of the graft with an optimally placed bone block. The mean location of the optimally placed bone-block center of the lateral collateral ligament graft was within 1.85 mm of the mean center of the footprint of the lateral collateral ligament; the mean graft isometry measurements with the optimally placed bone block were not significantly different from those with the bone block centered over the lateral collateral ligament footprint. The mean optimally placed bone-block center of the popliteus tendon and popliteofibular ligament reconstructions was 11 mm anterior and 2.7 mm proximal to the center of the popliteus tendon footprint. The mean relative length changes of the popliteus tendon and popliteofibular ligament grafts with the bone block optimally placed were <0.9 mm and <1.2 mm, respectively; the means with the popliteus tendon and popliteofibular ligament bone blocks centered over the popliteus tendon footprint were 3.7 mm and 5.0 mm, respectively., Conclusions: A popliteus tendon or popliteofibular ligament reconstruction with the bone block centered over the femoral footprint of the popliteus tendon was highly non-isometric. If the graft were fixed at 30 degrees of flexion, it would elongate approximately 4 mm when the knee was extended to 0 degrees and possibly stretch out.

A 3-year-old girl with operated meningomyelocele and urinary incontinence presented with recurrent attacks of watery diarrhea and anuria, which were relieved by urethral catheterization. Investigations revealed a poorly compliant neurogenic bladder that periodically decompressed via a spontaneously developed colovesical fistula. The fistula was repaired with concomitant bladder augmentation. To our knowledge, this is the only report of such a complication from neurogenic bladder in childhood.

A 2 1/2-month-old infant presented with a massive hepatomegaly. Ultrasound and computerized tomography showed a large cystic lesion in the right adrenal, small cysts in the left adrenal, and multiple cystic liver metastases. The right adrenal cyst, on excision, turned out to be a cystic neuroblastoma with hemorrhage. On follow-up, the cysts in the left adrenal and the liver metastases are regressing.

Objective: This study evaluates the results of bladder augmentation (BA) in 19 boys with posterior urethral valves, especially as regards its efficacy in stabilizing serum creatinine., Patients and Methods: In the period 1995-2005, 188 patients with urethral valves were surgically managed. Nineteen of these had undergone BA as a part of their surgical management after initial endoscopic valve ablation in 15 and diversion in four boys. The mean serum creatinine at the time of BA was 2.11 mg/dl., Results: BA stabilized the serum creatinine in 14 but failed to do so in five boys. A serum creatinine level of more than 2mg/dl at the time of BA was associated with a significantly worse rate of success. BA as part of an undiversion procedure in three boys was unsuccessful., Conclusion: In an economic milieu where renal transplantation is not available for the majority of deserving children, careful selection is required before BA is considered as a surgical solution for the valve bladder. BA, when otherwise indicated, has been beneficial in children with pre-augmentation creatinine up to 2 mg/dl.

Unlabelled: We report two children who presented with a painless abdominal mass masquerading as a splenic enlargement. The paucity of symptoms resulted in delayed diagnosis. At laparotomy the trichobezoars were found to have a tail extending into the small intestine., Conclusion: This condition eludes diagnosis unless sought for particularly in the paediatric age group. Hence we present our experience of two consecutive cases of paediatric Rapunzel syndrome, along with the relevant literature and in retrospect, how an early diagnosis could have been made.

The leaking pancreatic duct in childhood chronic pancreatitis presents with ascites and pleural effusion and is a potentially lethal condition. Seven children with this condition were seen in the period 2003-2006. The correct diagnosis was not entertained till a raised serum amylase was discovered. The diagnosis was confirmed by very high levels of amylase in the aspirated abdominal or pleural fluid. Computerized tomogram was the most useful imaging study and demonstrated a dilated pancreatic duct. All children were operated within 6 days of diagnosis by a Puestow's procedure in six and peripancreatic drainage in one. Six children made a prompt and lasting recovery after a Puestow's procedure while one child, also suffering from metastatic neuroblastoma, died in the immediate post operative period after peripancreatic drainage. We recommend prompt and definitive surgical management of this potentially lethal condition.

Primary repair of sternal cleft deformities are best achieved in the neonatal period. Conversion of a partial defect to a complete sternal cleft with sternal bar mobilization is able to achieve sternal approximation in most cases. We describe a new technique of fracturing the clavicles in unyielding cases as was our experience in a 6-week-old infant.

Traumatic tracheoesophageal fistula is a rare complication after blunt chest trauma, with all reported cases being more than 12 years of age. We report a 5-year-old boy with traumatic tracheoesophageal fistula after a blunt injury to the chest.

Tracheosophageal fistula following blunt trauma is rare and diagnosis and management can be difficult. All reported cases have involved victims above 12 years of age. Here we report the anesthesia management, for surgery, of a tracheoesophageal fistula caused by blunt trauma in a 5-year-old boy.

Perineal canal, a not so uncommon deformity in Asian countries, sometimes breaks down after the usual techniques of repair. The labial pad of fat with its vascular supply provides good tissue for interposition between the rectal and perineal suture lines in these cases, with good results.

We report a case of pulmonary arteriovenous malformation (PAVM) and associated pulmonary tuberculosis in a young girl who presented with hemoptysis. As intra-arterial coil embolization did not result in improvement of symptoms, surgical resection of the PAVM was performed, resulting in dramatic clinical improvement. Histopathology revealed a large PAVM, and in addition, caseous necrotizing granulomatous inflammation, suggestive of pulmonary tuberculosis. This case is being reported since the association of large PAVM and tuberculosis is very rare, and both could present with hemoptysis.

Three siblings (one boy and two girls) with Brown-Vialetto-van Laere syndrome are reported. A peculiar feature of onset with hearing loss in a patient with multiple cranial nerve palsies and a positive family history suggests this diagnosis. In our family, an autosomal recessive mode of inheritance was seen. In addition, we observed that early onset was associated with rapid deterioration and death. Optic nerve involvement and hyperintensity of the brainstem nuclei on magnetic resonance imaging (MRI) are two new features described in this report.

To study the fate of a refluxing ureteral stump used as a Mitrofanoff channel (MC) for clean intermittent catheterization (CIC), without reimplantation in augmented bladders. Ten boys and seven girls, 1-14 years old (mean 6.5 years) seen in period 1998-2005, underwent creation of MC using refluxing or potentially refluxing ureters. Concomitant bladder augmentation (BA) was performed for various abnormalities of lower urinary tract, including exstrophy epispadias complex, neurogenic bladder cloaca and posterior urethral valve. The uretero-vesical junction was maintained intact during creation of the MC. Follow-up period ranged from 2-72 months (mean 32.5 months). Satisfactory CIC was possible in 14 children while in two children the stoma became obstructed due to non-usage. Urinary leak via the ureteric MC was seen in only one patient who partially responded to anticholinergic therapy and a shortened CIC interval but this needed to be formally closed subsequently. A refluxing ureter can be used in the creation of a MC without formal reimplantation in the majority of children undergoing BA.

Repair of a large diaphragmatic defect in congenital diaphragmatic hernia (CDH) and eventration of the diaphragm (DE) is difficult, especially when this is an unexpected finding at surgery. A patch of synthetic material may not be available at short notice, especially in developing countries. We describe the repair of nine such defects by using an abdominal muscle flap comprising the transversus abdominis and internal oblique muscles based on the intercostal and subcostal vessels. Although reports of similar flap repairs have been published in the literature [1-5], these employed a subcostal incision for abdominal entry, which we believe jeopardizes the flap's vascularity. Thus, we prefer to use an upper abdominal midline incision for abdominal entry in all cases of CDH and DE.

Objective: To explore the profile of cytosine/adenine/guanine (CAG) repeat expansion in Omani spinocerebellar ataxia (SCA) patients., Methods: Ten SCA patients attending the Sultan Qaboos University Hospital Neurologic clinics, Al-Khoud, Oman in the 3 years starting from January 2000 were recruited for this study. Genomic DNA was extracted from peripheral blood samples and CAG repeat expansion analysis was carried out by polymerase chain reaction and sequencing, when required., Results: The CAG triplet repeats leading to polyglutamine expansion and neurodegeneration are seen in spinocerebellar ataxias 1, 2, 3, 6, 7 and 17. By using primers for SCA 1, 2, 3 and 7, we found the repeats were in the normal range and triplet repeats do not seem to be a common cause for ataxia in Oman., Conclusion: Spinocerebellar ataxia in Oman has the normal range of CAG repeats for the commonly found SCA1, SCA2, SCA3 and SCA7.

The preferred treatment of displaced supracondylar humeral fractures in children is closed reduction and percutaneous pinning. Cross-wiring techniques are biomechanically superior to parallel lateral wiring techniques. The purpose of this study was to review the authors' experience with a novel cross-wiring technique performed entirely from the lateral side. Twenty children with supracondylar fractures who were manipulated and wired using a lateral cross-wiring technique were reviewed. Patient demographics, mechanism of injury, fracture classification, and associated neurovascular injuries were noted. All fractures were reduced, cross-wired from the lateral side, and rested in an above-elbow slab. Wires were removed at 4 weeks. Range of motion and carrying angle were measured at follow-up. Lateral cross-wiring of supracondylar fractures represents a real option in the treatment of these injuries, offering the biomechanical advantages of traditional cross-wiring without the risk of ulnar nerve injury., (Copyright 2004 Lippincott Williams and Wilkins)

We describe a simple technique of venting the dilated intestine proximal to a small-bowel anastomosis in nine neonates that promoted uneventful healing and early enteral feeding.

Division of the bladder neck (BN) along with an augmentation cystoplasty and Mitrofanoff procedure was successfully employed in a group of patients with urinary incontinence. The BN division was buttressed with a unilateral vascularised rectus muscle flap, which effectively prevented urethral recanalisation without any cosmetic or functional disability.

In a 1-month-old infant with a mucosal-line left hemiperineal defect associated with penoscrotal hypospadias, penoscrotal transposition (PST) and an overhanging caudal skin-covered soft-tissue flap resembling a caudal appendage, perineal anatomy could be restored by excising the mucosa and using the overhanging flap to cover the resultant defect. The PST was corrected at the same time. Squamous, gastric, small-intestinal, and respiratory epithelia were present histologically in the mucosa in addition to adjacent cartilaginous elements. A caudal duplication that had ruptured in utero through the hemiperineum could explain the anomaly.

Six children presented with clinical symptoms suggestive of a choledochal cyst (CC), but were found to have only mild dilatation of the common bile duct. Further imaging revealed a long common pancreaticobiliary channel in all cases. There was complete relief after surgery provided a pancreaticobiliary disconnection was incorporated in the operative management. A high index of suspicion is required to diagnose this condition, which has been previously reported as "forme fruste CC".