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Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

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Eye and Vision 2021年第1期8卷 192-202页

作者： Sriee Viswarubhiny Rupa Anjanamurthy Ayyasamy Vanniarajan Devarajan Bharanidharan Vijayalakshmi Perumalsamy Periasamy Sundaresan department of Molecular Genetics Aravind Medical Research FoundationAravind Eye HospitalMaduraiTamil Nadu 625020India department of Molecular Biology Aravind Medical Research Foundation-Affiliated to Alagappa UniversityKaraikudiTamil NaduIndia department of paediatric and adult strabismus Aravind Eye HospitalMaduraiTamil NaduIndia department of Bioinformatics Aravind Medical Research FoundationAravind Eye HospitalMaduraiTamil NaduIndia

Background:Leber congenital amaurosis(LCA),primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy(IRD)responsible for congenital *** presence of phenotypic heterogeneity makes the diagnosis of LCA challenging,especially in the absence of pronounced disease pathognomonic,yet it can be well comprehended by employing molecular ***,the present study aimed to reveal the causative mutations in ten LCA patients with variable phenotypes using clinical exome sequencing(CES).Methods:CES was performed in ten unrelated LCA *** information and family history of all patients were obtained to make a meaningful *** clinical exome data was analyzed and prioritized using a bioinformatics pipeline to identify mutations,which was further validated by Sanger *** analysis was also performed on available family ***:CES led to the identification of causative mutations in nine LCA *** patients harbored a mutation in six LCA candidate genes,including RPE65,LCA5(n=2),CRX,PRPH2,CEP290,and ALMS1,while two patients possess a mutation in IFT80 and RP1,known to cause other *** novel mutations in LCA5(c.1823del),CRX(c.848del)and CEP290(c.2483G>T)were *** current study reports for the first time,a mutation in PRPH2,CEP290,and ALMS1 from the Indian ***,we observed a novel association of LCA phenotype with IFT80 known to cause Jeune *** on the genetic finding,the patient AS09,who harbored a mutation in the RP1 gene,was re-diagnosed with early-onset retinitis ***:In conclusion,the results underline the importance of CES in clinically diagnosed LCA patients with variable *** correlation between mutations in candidate genes and clinical phenotypes,helps to refine the clinical ***,molecular evaluation with a larger cohort of LCA patients is needed for better understa

关键词： Leber congenital amaurosis Clinical exome sequencing Southern India Molecular diagnosis Genotype-phenotype correlation

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Optimizing growth in pediatric renal transplant recipients: An update

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World Journal of Transplantation 2024年第4期14卷 38-43页

作者： Manoji Gamage Randula Ranawaka Nutrition Division Ministry of HealthColombo 0094Sri Lanka Medical Nutrition Unit National Institute of NephrologyDialysis and TransplantColombo 0094Sri Lanka department of paediatrics Faculty of MedicineUniversity of ColomboColombo 0094Sri Lanka University paediatric Unit Lady Ridgeway Hospital for ChildrenColombo 0094Sri Lanka

Growth retardation is a significant complication observed in pediatric renal transplant recipients,originating from a multifactorial *** contributing to growth impairment encompass pre-transplant conditions such as primary kidney disease,malnutrition,quality of care,growth deficits at the time of transplantation,dialysis adequacy,and the use of recombinant human growth ***,elements related to the renal transplant itself,such as living donors,corticosteroid usage,and graft functioning,further compound the *** renal transplantation is the preferred renal replacement therapy,its impact on achieving final height and normal growth in children remains *** consequences of growth delay extend beyond the physi-ological realm,negatively influencing the quality of life and social conditions of pediatric renal transplant recipients,and ultimately affecting their educational and employment *** advancements in graft survival rates,growth retardation remains a formidable clinical concern among children undergoing renal *** risk factors for delayed final adult height include young age at transplantation,pre-existing short stature,and the use of specific immunosuppressive drugs,particularly *** management of growth retardation necessitates early intervention,commencing even before *** involving the administration of recombinant growth hormone both pre-and post-transplant,along with protocols aimed at minimizing steroid usage,are important for achieving catch-up *** review provides a comprehensive outline of the multifaceted nature of growth retardation in pediatric renal transplant recipients,emphasizing the importance of early and targeted interventions to mitigate its impact on the long-term well-being of these children from birth to *** Children with chronic kidney disease(CKD)endure frequent hospitalizations and ongoing treatmen

关键词： Growth Pediatric Chronic kidney disease Renal transplant recipients Recombinant human growth hormone

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Hepatocyte cryopreservation:Is it time to change the strategy?

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World Journal of Gastroenterology 2010年第1期16卷 1-14页

作者： Xavier Stéphenne Mustapha Najimi Etienne M Sokal Catholic University of Louvain and St Luc Clinics Paediatric Department(HPED)PEDI unitLaboratory of Paediatric Hepatology and Cell Therapy

Liver cell transplantation presents clinical benefit in patients with inborn errors of metabolism as an alternative,or at least as a bridge,to orthotopic liver *** success of such a therapeutic approach remains limited by the quality of the transplanted *** remains the best option for long-term storage of hepatocytes,providing a permanent and sufficient cell ***, isolated adult hepatocytes are poorly resistant to such a process,with a significant alteration both at the morphological and functional ***,the aim of the current review is to discuss the state of the art regarding widely-used hepatocyte cryopreservation protocols,as well as the assays performed to analyse the post-thawing cell quality both in vitro and in vivo. The majority of studies agree upon the poor quality and efficiency of cryopreserved/thawed hepatocytes as compared to freshly isolated *** ice formation or exposure to hyperosmotic solutionsremains the main phenomenon of cryopreservation process,and its effects on cell quality and cell death induction will be *** increased knowledge and understanding of the cryopreservation process will lead to research strategies to improve the viability and the quality of the cell suspensions after *** strategies,such as vitrification,will be discussed with respect to their potential to significantly improve the quality of cell suspensions dedicated to liver cell-based therapies.

关键词： Hepatocyte Cryopreservation Quality Mitochondria Intracellular ice formation

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Surgical strategies in paediatric inflammatory bowel disease

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World Journal of Gastroenterology 2015年第20期21卷 6101-6116页

作者： Colin T Baillie Jennifer A Smith department of paediatric Surgery Royal Liverpool Childrens Hospital

Inflammatory bowel disease(IBD) comprises two distinct but related chronic relapsing inflammatory conditions affecting different parts of the gastrointestinal tract. Crohn's disease is characterised by a patchy transmural inflammation affecting both small and large bowel segments with several distinct phenotypic presentations. Ulcerative colitis classically presents as mucosal inflammation of the rectosigmoid(distal colitis), variably extending in a contiguous manner more proximally through the colon but not beyond the caecum(pancolitis). This article highlights aspects of the presentation, diagnosis, and management of IBD that have relevance for paediatric practice with particular emphasis on surgical considerations. Since 25% of IBD cases present in childhood or teenage years, the unique considerations and challenges of paediatric management should be widely appreciated. Conversely, we argue that the organizational separation of the paediatric and adult healthcare worlds has often resulted in late adoption of new approaches particularly in paediatric surgical practice.

关键词： Inflammatory bowel disease Ulcerativecolitis Crohn's disease paediatric Surgery

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Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

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Eye and Vision 2020年第1期7卷 26-35页

作者： Rajendran Kadarkarai Raj Pankaja Dhoble Rupa Anjanamurthy Prakash Chermakani Manojkumar Kumaran Bharanidharan Devarajan Periasamy Sundaresan department of Genetics Aravind Medical Research Foundation-MaduraiNo.1 Anna NagarMaduraiTamil Nadu 625020India Retina Consultant Department of Vitreo Retinal servicesAravind Eye Hospital-PondicherryPuducherryIndia department of paediatrics and adult strabismus Aravind Eye Hospital-MaduraiMaduraiTamil NaduIndia department of Bioinformatics Aravind Medical Research Foundation-MaduraiMaduraiTamil NaduIndia

Background:Stargardt disease 1(STGD1;MIM 248200)is a monogenic form of autosomal recessive genetic disease caused by mutation in *** gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and *** purpose of this study is to identify the frequency of putative disease-causing mutations associated with Stargardt disease in a South Indian ***:A total of 28 clinically diagnosed Stargardt-like phenotype patients were recruited from south *** examination of all patients was carefully carried out by a retina specialist based on the stages of fundus imaging and ERG *** analysis of ABCA4 was performed for all patients using Sanger sequencing and clinical exome ***:This study identified disease-causing mutations in ABCA4 in 75%(21/28)of patients,7%(2/28)exhibited benign variants and 18%(5/28)were negative for the disease-causing ***:This is the first study describing the genetic association of ABCA4 disease-causing mutation in South Indian Stargardt 1 patients(STGD1).Our findings highlighted the presence of two novel missense mutations and an(in/del,single base pair deletion&splice variant)in ***,genetic heterogeneity in ABCA4 mutants requires a larger sample size to establish a true correlation with clinical phenotype.

关键词： Stargardt ABCA4 Macular degeneration Yellow white flecks Mutation detection South Indian population

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Evaluation of left atrial remodelling following percutaneous left atrial appendage closure

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Journal of Geriatric Cardiology 2017年第8期14卷 496-500页

作者： Zakaria Jalal Xavier Iriart Marie-Lou Dinet Olivier Comeloup Xavier Pillois Hubert Cochet Jean-Benoit Thambo department of paediatric and adult Congenital Cardiology Bordeaux University Hospital Pessac France Electrophysiology and Heart Modeling Institute IHU Lirye Fondation Bordeaux UniversitO Pessac-Bordeaux France Centre de recherche Cardio-Thoracique de Bordeaux INSERM Bordeaux France department of Radiology Bordeaux University Hospital Pessac France

Atrial fibrillation prevalence is increasing with age, reaching up to 5% of patients older than 65 years, and is associated with 20%-30% of stroke episodes in that population.

关键词： Atrial fibrillation Left atrial appendage Left atrial remodeling Percutaneous closure

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Near-infrared cholangiography with intragallbladder indocyanine green injection in minimally invasive cholecystectomy

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World Journal of Gastrointestinal Surgery 2024年第4期16卷 1017-1029页

作者： Savvas Symeonidis Ioannis Mantzoros Elissavet Anestiadou Orestis Ioannidis Panagiotis Christidis Stefanos Bitsianis Vasiliki Bisbinas Konstantinos Zapsalis Trigona Karastergiou Dimitra Athanasiou Stylianos Apostolidis Stamatios Angelopoulos Fourth department of Surgery Medical SchoolAristotle University of ThessalonikiThessaloniki 57010Greece ENT department Royal Cornwall Hospitals NHS TrustCornwall TR13LJUnited Kingdom 1^(st)Propedeutic Surgical department University Hospital of ThessalonikiAristotle University of ThessalonikiThessaloniki 54636Greece

Laparoscopic cholecystectomy(LC)remains one of the most commonly performed procedures in adult and paediatric *** the advances made in intraoperative biliary anatomy recognition,iatrogenic bile duct injuries during LC represent a fatal complication and consist an economic burden for healthcare systems.A series of methods have been proposed to prevent bile duct injury,among them the use of indocyanine green(ICG)*** most commonly reported method of ICG injection is the intravenous administration,while literature is lacking studies investigating the direct intragallbladder ICG *** narrative mini-review aims to assess the potential applications,usefulness,and limitations of intragallbladder ICG fluorescence in *** screened the available international literature to identify the reports of intragallbladder ICG fluorescence imaging in minimally invasive cholecystectomy,as well as special issues regarding its *** search retrieved four prospective cohort studies,three case-control studies,and one case *** the three case-control studies selected,intragallbladder near-infrared cholangiography(NIRC)was compared with standard LC under white light,with intravenous administration of ICG for NIRC and with standard intraoperative cholangiography(IOC).In total,133 patients reported in the literature have been administered intragallbladder ICG administration for biliary mapping during *** includes several reports of intragallbladder ICG administration,but a standardized technique has not been established *** data suggest that NIRC with intragallbladder ICG injection is a promising method to achieve biliary mapping,overwhelming limitations of IOC including intervention and radiation exposure,as well as the high hepatic parenchyma signal and time interval needed in intravenous ICG ***-based guidelines on the role of intragallbladder ICG fluorescence in LC require the assessment of furth

关键词： Minimally invasive cholecystectomy Laparoscopic cholecystectomy Biliary tract mapping Indocyanine green Near-infrared fluorescent cholangiography Intracystic indocyanine green Intragallbladder indocyanine green Bile duct injury

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Acceptability and Feasibility of YouthCHAT to Detect Psychosocial Problems in Young People with Congenital Heart Disease

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International Journal of Mental Health Promotion 2021年第2期23卷 221-230页

作者： Hiran Thabrew Harshali Kumar Vanessa Garcia-Hoyos Felicity Goodyear-Smith department of Psychological Medicine Faculty of Medical and Health SciencesUniversity of AucklandAuckland1023New Zealand adult Congenital Heart Disease Service Paediatric and Congenital CardiologyStarship HospitalAuckland1023New Zealand department of General Practice and Primary Health Care University of AucklandAuckland1023New Zealand

Objective:Young people with congenital heart disease(CHD)are at increased risk of psychosocial issues,includ-ing anxiety and depression that can affect their medical care and quality of *** open trial investigated the acceptability,feasibility and preliminary effectiveness of YouthCHAT,a tablet-based screener,designed to identify similar issues to a face to face psychosocial assessment,with young people who have ***:Youth-CHAT was administered to 44 such young people aged 15–25 years attending a specialist outpatient clinic at a New Zealand tertiary *** outcomes were(i)acceptability and(ii)feasibility of YouthCHAT,assessed via feedback from young people and clinicians and(iii)detection rates for each domain of YouthCHAT,measured by mental health or lifestyle issue being‘present’or‘absent’.Results:YouthCHAT was quick to complete(mean 9 min and 7 s)and well-received by young people(overall rating 7 out of 10)and *** of anxiety,substance use and other issues were similar to those in a previous study of young people with mixed long-term physical ***,rates of depression(41%)and life stresses(98%)were notably ***:Although further research is required,our results provide initial evidence that YouthCHAT is a viable and accep-table psychosocial screener with which to improve the holistic care of young people with CHD.

关键词： Screening adolescent anxiety depression congenital heart disease

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Fertility and pregnancy in inflammatory bowel disease

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World Journal of Gastroenterology 2001年第4期7卷 455-459页

作者： Elspeth Alstead Senior Lecturer and Consultant Physician Department of Adult and Paediatric GastroenterologySt.Bartholomew's and the Royal London School of Medicine and DentistryTurner StreetLondon El 2ADUK.

INTRODUCTIONInflammatory bowel disease(IBD)is a chronic disorder affecting young adults in the reproductive *** is comon for both female and male patients with IBD to ask questions about IBD's effect on their relationships,sexual and reproductive function,in particular fertility,the outcome of pregnancy and its possible effets on the *** open discussion of the social situation and education targeted at these issues therefore forms an essential part of the management of any young person with *** questions that are most commonly asked are summarised in Table *** order to answer these questions we need *** are few large prospective case controlled studies to provide the information which is required but the available data,some of it from small observational studies,will be summarised in this chapter.

关键词： Fertility Female Humans Immunosuppressive Agents Inflammatory Bowel Diseases Pregnancy Pregnancy Complications Pregnancy Outcome

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Ventricular Arrhythmia in the Fontan Circulation:Prevalence,Risk Factors and Clinical Implications

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Congenital Heart Disease 2023年第5期18卷 507-523页

作者： Charis Tan Diana Zannino Carley Clendenning Sophie Offen Thomas LGentles Julian Ayer David Tanous Vishva Wijesekera Leeanne Grigg David Celermajer Mark McGuire Yves d’Udekem Rachael Cordina department of Cardiothoracic Surgery Royal Prince Alfred HospitalCamperdownAustralia Sydney Medical School University of SydneyCamperdownAustralia Clinical Epidemiology and Biostatistics Unit Murdoch Children’s Research InstituteParkvilleAustralia department of Cardiology Royal Prince Alfred HospitalCamperdownAustralia department of paediatric Cardiology Starship HospitalAucklandNew Zealand department of paediatric Cardiology The Children’s Hospital at WestmeadWestmeadAustralia department of Cardiology Westmead HospitalWestmeadAustralia adult Congenital Heart Disease Unit The Prince Charles HospitalBrisbaneAustralia department of Cardiology The Royal Melbourne HospitalMelbourneAustralia Heart Research Institute CamperdownAustralia department of Cardiac Surgery The Royal Children’s Hospital MelbourneParkvilleAustralia department of paediatrics The University of MelbourneParkvilleAustralia

Objective:Sudden cardiac death(SCD)and malignant ventricular arrhythmia(VA)are increasingly recognized as important issues for people living with a Fontan circulation,but data are *** sought to characterize the cohort who had sudden cardiac death,most likely related to VA and/or documented VA in the Australia and New Zealand Fontan Registry including risk factors and clinical ***:A retrospective cohort study was *** criteria were documented non-sustained ventricular tachycardia,sustained ventricular tachycardia,ventricular fibrillation,resuscitated cardiac arrest or SCD>30 days post-Fontan ***:Of 1611 patients,20(1.2%)had VA;14(1.0%)had VA without SCD and 6(<1%)had SCD(6%of all deaths recorded in Registry;5 of those had documented VA at the time of arrest and 1 was presumed to be VA-associated).The median age at first VA was 20.5(14–32)years,10(50%)were females,and the median age at Fontan operation was 8(4–17)*** univariable analysis,hypoplastic left heart syndrome(p=0.03)and older age Fontan operation(p<0.001)were associated with *** Fontan era(p<0.003),atriopulmonary Fontan(p<0.001),pre-Fontan atrioventricular valve repair(p=0.013)pre-or post-Fontan atrial arrhythmia(p=0.010)were associated with *** with VA had a 3 times higher risk of death or heart transplant(HR 3.27(1.19,8.98),p=0.02).Conclusions:A proportion of people living with a Fontan circulation have malignant *** VA screening in this cohort is *** data are needed to aid risk stratification.

关键词： Fontan congenital cardiac arrhythmia sudden cardiac death ventricular tachyarrhythmia

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