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Blended Phenotypes From a SERPINA 11 Pathogenic Variant Over Underlying Immune Fetal Hydrops: A Rare Case Report and Literature Review

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Maternal-Fetal Medicine 2024年第4期6卷 257-261页

作者： Manisha M.Beck Noel d.Luke Reena Sakte Anand Preethi navaneethan Rekha Athiyarath Sumita danda Fetal Medicine Unit Department of Obstetrics and GynecologyChristian Medical College and HospitalVelloreTamil Nadu 632004India department of Medical Genetics Christian Medical College and HospitalVelloreTamil Nadu 632004India.

Fetal hydrops can stem from immune or nonimmune *** causes often involve red cell alloimmunization,whereas nonimmune causes encompass structural malformations,aneuploidy,infections,lymphatic system disorders,genetic syndromes,and *** a rare and complex case,we encountered a fetal hydrops presentation characterized by blended phenotypes,indicating both a genetic and an underlying immune *** mother,Rhesus negative,presented with a history of adverse obstetric *** 21 weeks,the current fetus was diagnosed with *** blood tests unveiled Rhesus alloimmunization,featuring a positive indirect Coombs test at a 1:512 dilution and the presence of anti-d,anti-C,and anti-E *** blood sampling revealed an O-positive blood group with a hemoglobin level of 10 gm/*** administering intrauterine transfusion to the fetus,there was no improvement;instead,the fetal hydrops worsened,accompanied by the emergence of nuchal and axillary *** sequencing of fetal dNA revealed the fetus was homozygous for a pathogenic variant in the SERPINA11 gene and compound heterozygous for a pathogenic variant in the PIEZO1 ***,the combination of pathogenic variants in SERPINA11 and PIEZO1 genes has not been described in cases of fetal hydrops *** case posed significant challenges in management due to the concurrent presence of both immune and nonimmune *** describe some of the diagnostic challenges faced in clinical management of this case.

关键词： Fetal chylothorax SERPINA11 gene Rhesus alloimmunization Fetal hydrops Prenatal diagnosis Blended phenotypes

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Sonochemical synthesis of nanostructured nickel hydroxide as an electrode material for improved electrochemical energy storage application

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Progress in Natural Science:Materials International 2017年第4期27卷 416-423页

作者： Arshid Numan navaneethan d.raisamy Fatin Saiha Omar dhanaraj Gopi K.Ramesh S.Ramesh Center for Ionics University of Malaya Department of Physics Faculty of Science University of Malaya department of Chemistry Periyar University

A facile and fast approach for the synthesis of a nanostructured nickel hydroxide(Ni（OH）;) via sonochemical technique is reported in the present study. The X-ray diffraction results confirmed that the synthesized Ni（OH）;was oriented in β-phase of hexagonal brucite structure. The nanostructured Ni（OH）;electrode exhibited the maximum specific capacitance of 1256 F/g at a current density of 200 mA/g in 1 M KOH;. Ni（OH）;electrodes exhibited the pseudocapacitive behavior due to the presence of redox reaction. It also exhibited long-term cyclic stability of 85% after 2000 cycles, suggesting that the nanostructured Ni（OH）;electrode will play a promising role for high performance supercapacitor application.

关键词： Nickel hydroxide Sonochemical synthesis Surface morphology Electrode materials

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Factors predicting adverse short-term outcomes in patients with acute cholangitis undergoing ERCP: A single center experience

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World Journal of Gastrointestinal Endoscopy 2014年第3期6卷 74-81页

作者： Udayakumar navaneethan Norma G Gutierrez Ramprasad Jegadeesan Preethi GK Venkatesh Madhusudhan R Sanaka John J Vargo Mansour A Parsi department of Gastroenterology and Hepatology Digestive Disease Institute Cleveland Clinic Foundation

AIM: To identify potential factors that can predict adverse short-term outcomes in patients with acute cholangitis undergoing endoscopic retrograde cholangiopancreatography(ERCP). METHOdS: Retrospective analysis of consecutive patients admitted to our center for acute cholangitis and underwent ERCP from 2001 to 2012. Involvement of two or more organ systems was termed as organ failure(OF). Cardiovascular failure was defined based on a systolic blood pressure of despite fluid replacement and/or requiring vasopressor treatment; respiratory failure if the Pa02 /Fi02 ratio was d/or required mechanical ventilation; coagulopathy if the platelet count was d renal insufficiency if serum creatinine was > 1.9 mg/dL. Variables associated with short term adverse clinical outcomes defined as persistent OF and/or 30-d mortality was determined. RESULTS: A total of 172 patients(median age 62 years, 56.4% female) were included. The median door to ERCP time was 17 h. Bile duct stones were the most common etiology(n = 67, 39.2%). In multivariate analysis, factors that were independently associated with persistent OF and/or 30-d mortality included American Society of Anesthesiology(ASA) physical classification score > 3(OR = 7.70; 95%CI: 2.73-24.40), presence of systemic inflammatory response syndrome(OR = 3.67; 95%CI: 1.34-10.3) and door to ERCP time greater than 72 h(OR = 3.36; 95%CI: 1.12-10.20). door to ERCP time greater than 72 h was also associated with 70% increase in the mean length of stay(P d every 1 mg/dL increase in the preERCP bilirubin level was associated with a 34% and 2% increase in the mean length of hospital stay, respectively. Transfer status did not impact clinical outcomes. CONCLUSION: Higher ASA physical classification and delays in ERCP are associated with adverse clinical outcomes and prolonged length of hospital stay in patients with acute cholangitis undergo

关键词： Endoscopic retrograde cholangiopancreatography Cholangitis Outcomes

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An international delphi consensus statement on metabolic dysfunction-associated fatty liver disease and risk of chronic kidney disease

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Hepatobiliary Surgery and Nutrition 2023年第3期12卷 386-403,I0014-I0016页

作者： dan-Qin Sun Giovanni Targher Christopher d.Byrne david C.Wheeler Vincent Wai-Sun Wong Jian-Gao Fan Herbert Tilg Wei-Jie Yuan Christoph Wanner Xin Gao Michelle T.Long Mehmet Kanbay Mindie H.Nguyen Sankar d.navaneethan Yusuf Yilmaz Yuli Huang Rino A.Gani Pierluigi Marzuillo Jérôme Boursier Huijie Zhang Chan-Young Jung Jin Chai Luca Valenti George Papatheodoridis Giovanni Musso Yu-Jun Wong Mohamed El-Kassas Nahum Méndez-Sánchez Silvia Sookoian Michael Pavlides Ajay duseja Adriaan G.Holleboom Junping Shi Wah-Kheong Chan Yasser Fouad Junwei Yang Sombat Treeprasertsuk Helena Cortez-Pinto Masahide Hamaguchi Manuel Romero-Gomez Mamun Al Mahtab Ponsiano Ocama Atsushi Nakajima Chunsun dai Mohammed Eslam Lai Wei Jacob George Ming-Hua Zheng department of Nephrology Jiangnan University Medical CenterWuxiChina Affiliated Wuxi Clinical College of Nantong University WuxiChina Section of Endocrinology Diabetes and MetabolismDepartment of MedicineAzienda Ospedaliera Universitaria Integrata VeronaVeronaItaly Southampton National Institute for Health and Care Research Biomedical Research Centre University Hospital Southamptonand Southampton General HospitalUniversity of SouthamptonSouthamptonUK department of Renal Medicine University College LondonLondonUK department of Medicine and Therapeutics Chinese University of Hong KongHong KongChina Center for Fatty Liver Department of GastroenterologyXin Hua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina department of Internal Medicine I GastroenterologyEndocrinology&MetabolismMedical University InnsbruckInnsbruckAustria department of Nephrology Shanghai General HospitalShanghai Jiao Tong University School of MedicineShanghaiChina division of Nephrology Department of MedicineWürzburg University ClinicWürzburgGermany department of Endocrinology and Metabolism Zhongshan HospitalFudan UniversityShanghaiChina Section of Gastroenterology Boston Medical CenterBoston University School of MedicineBostonMAUSA division of Nephrology Department of Medicine(M.K.)Koc University School of MedicineIstanbulTurkey division of Gastroenterology and Hepatology Department of MedicineStanford University Medical CenterPalo AltoCAUSA department of Epidemiology and Population Health Stanford University Medical CenterPalo AltoCAUSA Section of Nephrology and Institute of Clinical and Translational Research Baylor College of Medicineand Michael E.DeBakey VA Medical CenterHoustonTXUSA department of Gastroenterology School of MedicineMarmara UniversityIstanbulTurkey department of Gastroenterology School of MedicineRecep Tayyip Erdoğan UniversityRizeTurkey department of Cardiology Shunde HospitalSouthern Medical UniversityFoshanChina division of Hepat

Background:With the rising global prevalence of fatty liver disease related to metabolic dysfunction,the association of this common liver condition with chronic kidney disease(CKd)has become increasingly *** 2020,the more inclusive term metabolic dysfunction-associated fatty liver disease(MAFLd)was proposed to replace the term non-alcoholic fatty liver disease(NAFLd).The observed association between MAFLd and CKd and our understanding that CKd can be a consequence of underlying metabolic dysfunction support the notion that individuals with MAFLd are at higher risk of having and developing CKd compared with those without ***,to date,there is no appropriate guidance on CKd in individuals with ***,there has been little attention paid to the link between MAFLd and CKd in the Nephrology *** and Results:Using a delphi-based approach,a multidisciplinary panel of 50 international experts from 26 countries reached a consensus on some of the open research questions regarding the link between MAFLd and ***:This delphi-based consensus statement provided guidance on the epidemiology,mechanisms,management and treatment of MAFLd and CKd,as well as the relationship between the severity of MAFLd and risk of CKd,which establish a framework for the early prevention and management of these two common and interconnected diseases.

关键词： Metabolic dysfunction-associated fatty liver disease(MAFLd) non-alcoholic fatty liver disease(NAFLd) chronic kidney disease(CKd) consensus

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