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Hepatic grooves:An observational study at laparoscopic surgery

World Journal of Experimental Medicine 2024年第2期14卷 97-102页

作者： Shamir O Cawich Dexter A Thomas Fawwaz Mohammed Michael T Gardner Marlene Craigie Shaneeta Johnson Ramnanand S Kedambady Department of Surgery University of the West IndiesSt Augustine 000000Trinidad and Tobago Department of Surgery Port of Spain General HospitalPort of Spain 000000Trinidad and Tobago Section of Anatomy Basic Medical SciencesUniversity of the West IndiesKingston 000000Jamaica Department of Radiology University of the West IndiesKingston 000000Jamaica Department of Surgery Morehouse School of MedicineAtlantaGA 30310United States Section of Anatomy Department of Basic Medical SciencesUniversity of the West IndiesKingston KIN7Jamaica

BACKGROUND In traditional descriptions,the upper surface of the liver is smooth and convex,but deep depressions are variants that are present in 5%-40%of patients.We sought to determine the relationship between surface depressions and the diaphragm.AIM To use exploratory laparoscopy to determine the relationship between surface depressions and the diaphragm.METHODS An observational study was performed in all patients undergoing laparoscopic upper gastro-intestinal operations between January 1,2023 and January 20,2024.A thirty-degree laparoscope was used to inspect the liver and diaphragm.When surface depressions were present,we recorded patient demographics,presence of diaphragmatic bands,rib protrusions and/or any other source of compression during inspection.RESULTS Of 394 patients,343 had normal surface anatomy,and 51(12.9%)had prominent surface depressions on the liver.There was no significant relationship between the presence of surface depressions and gender nor the presence of rib projections.However,there was significant association between the presence of surface depressions and diaphragmatic muscular bands(P<0.001).CONCLUSION With these data,the diaphragmatic-band theory has gained increased importance over other theories for surface depressions.Further studies are warranted using cross sectional imaging to confirm relationships with intersectional planes as well as beta-catenin assays in the affected liver parenchyma.

关键词： Liver variant Vein Hepatic Surgery

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Liver surface depressions in the presence of diaphragmatic muscular bands on trans-illumination

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World Journal of Experimental Medicine 2024年第2期14卷 5-10页

作者： Shamir O Cawich Michael T Gardner Ramanand Shetty Jean Pierre Louboutin Zenica Dabichan Shaneeta Johnson Department of Surgery University of the West IndiesSt AugustineTrinidad and Tobago Section of Anatomy Department of Basic Medical SciencesUniversity of the West IndiesKingston KIN7Jamaica Department of Surgery Morehouse School of MedicineAtlantaGA 30310United States

Traditional descriptions of liver anatomy refer to a smooth,convex surface contacting the diaphragm.Surface depressions are recognized anatomic variants.There are many theories to explain the cause of the depressions.... 详细信息

关键词： Liver Anatomy Depressions Fissure Groove Sulcus variant

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Emerging significance of butyrylcholinesterase

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World Journal of Experimental Medicine 2024年第1期14卷 33-43页

作者： Gumpeny R Sridhar Lakshmi Gumpeny Department of Endocrinology and Diabetes Endocrine and Diabetes CentreVisakhapatnam 530002Andhra PradeshIndia Department of Internal Medicine Gayatri Vidya Parishad Institute of Healthcare and Medical TechnologyVisakhapatnam 530048Andhra PradeshIndia

Butyrylcholinesterase(BChE;EC 3.***.1.8),an enzyme structurally related to acetylcholinesterase,is widely distributed in the human body.It plays a role in the detoxification of chemicals such as succinylcholine,a muscle relaxant used in anesthetic practice.BChE is well-known due to variant forms of the enzyme with little or no hydrolytic activity which exist in some endogamous communities and result in prolonged apnea following the administration of succinylcholine.Its other functions include the ability to hydrolyze acetylcholine,the cholinergic neurotransmitter in the brain,when its primary hydrolytic enzyme,acetylcholinesterase,is absent.To assess its potential roles,BChE was studied in relation to insulin resistance,type 2 diabetes mellitus,cognition,hepatic disorders,cardiovascular and cerebrovascular diseases,and inflammatory conditions.Individuals who lack the enzyme activity of BChE are otherwise healthy,until they are given drugs hydrolyzed by this enzyme.Therefore,BChE is a candidate for the study of loss-of-function mutations in humans.Studying individuals with variant forms of BChE can provide insights into whether they are protected against metabolic diseases.The potential utility of the enzyme as a biomarker for Alzheimer’s disease and the response to its drug treatment can also be assessed.

关键词： Esterase Acetylcholinesterase variant Cholinergic Metabolic syndrome Cognition Knockout model

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Gene-diet interaction of FTO-rs9939609 gene variant and hypocaloric diet on glycemic control in overweight and obese adults: a systematic review and meta-analysis of clinical trials

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Chinese Medical Journal 2020年第3期133卷 310-317页

作者： Karim Parastouei Hosein Rostami Amirhossein Ahmadi Ramezani Hamidreza Tavakoli Meysam Alipour Health Research Center Life Style InstituteBaqiyatallah University of Medical SciencesTehranIran

Background:The hypocaloric diets improve glycemic status in obese individuals,but the response to hypocaloric diets in fat mass and obesity-associated gene(FTO)-rs9939609 gene variant is unknown.This systematic review and meta-analysis aimed to assess the gene-diet interaction of FTO-rs9939609 gene variant and hypocaloric diets on glycemic control in overweight and obese adults.Methods:Cochrane Central Register of Controlled Trials,PubMed,ISI Web of Science,Embase,Scopus,and Google scholar were searched up to December 2018,for relevant clinical trials.Mean changes in fasting blood sugar(FBS),serum insulin,and homeostasis model assessment of insulin resistance(HOMA-IR)were extracted.Results:The pooled analysis of nine studies showed that there was no significant difference between AA/AT and TT genotypes in FBS(weighted mean difference[WMD]=0.01,95%confidence interval[CI]:-1.08,1.10,P=0.984)and serum insulin(WMD=0.20,95%CI:-0.85,1.26;P=0.707)after intervention hypocaloric diets.The overweight/obese participants in AA/AT group showed the greatest reduction in HOMA-IR compared with TT genotype following intervention,and this difference was not statistically significant(WMD=-0.38,95%CI:-0.94,0.16,P=0.167).Conclusion:This meta-analysis suggests that there was no significant difference between AA/AT and TT genotypes of FTO-rs9939609 on FBS,serum insulin level,and insulin resistance in response to hypocaloric diets.

关键词： Low-caloric diet Obesity-associated gene RS9939609 gene variant Insulin resistance Fasting blood sugar

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An alternative splicing variant of mineralocorticoid receptor discovered in preeclampsia tissues and its effect on endothelial dysfunction

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Science China(Life Sciences) 2020年第3期63卷 388-400页

作者： Mengxi Guo Chengliang Zhou Gufeng Xu Lin Tang Yechun Ruan Ying Yu Xianhua Lin Dandan Wu Hao Chen Priscilla Yu Luyang Jin Yinyu Wang Yimei Wu Kamran Ullah Tanzil Ur Rahman Xinmei Liu Jianzhong Sheng Hsiao-Chang Chan Hefeng Huang Women’s Hospital Zhejiang University School of MedicineHangzhou 310058China International Peace Maternal and Child Health Hospital Shanghai Jiao Tong University School of MedicineShanghai 200030China Epithelial Cell Biology Research Center Faculty of MedicineSchool of Biomedical SciencesThe Chinese University of Hong KongHong KongChina Key Laboratory of Reproductive Genetics Ministry of Education(Zhejiang University)Hangzhou 310058China Department of Pathology and Pathophysiology Zhejiang University School of MedicineHangzhou 310058China Shanghai Key Laboratory of Embryo Original Disease Shanghai 20030China

The pathophysiology of preeclampsia(PE)remains unclear.PE spiral artery remodeling dysfunction and PE offspring cardiovascular future development has been a worldwide concern.We collected placental and umbilical artery samples from normotensive and PE pregnancies.Mineralocorticoid receptor(MR)and its alternative splicing variant(ASV)expression and their biological effects on PE were examined.An MR ASV was found to be highly expressed in all PE samples and slightly expressed in about half of the normotensive samples(umbilical artery,~57.58%;placenta,~36.84%).The MR ASV expression was positively associated with blood pressure in both groups.The MR ASV protein changed the aldosterone-induced expression pattern of MR target genes related to ion exchanges and cell signaling pathways.The MR ASV can also impair the proliferation,migration,and tube formation ability of endothelial cells.These findings indicate that MR ASV in PE placenta plays a pathogenic role in PE pathophysiology,especially in endothelial dysfunction,and the existence of the MR ASV in PE umbilical artery provides a new direction in the study of PE offspring with increased risk of cardiovascular diseases.

关键词： preeclampsia mineralocorticoid receptor alternative splicing variant offspring endothelial dysfunction

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VPOT:A Customizable variant Prioritization Ordering Tool for Annotated variants

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Genomics, Proteomics & Bioinformatics 2019年第5期17卷 540-545页

作者： Eddie Ip Gavin Chapman David Winlaw Sally LDunwoodie Eleni Giannoulatou Victor Chang Cardiac Research Institute Sydney 2010Australia St Vincent’s Clinical School University of New South WalesSydney 2052Australia Heart Centre for Children The Children’s Hospital at WestmeadSydney 2145Australia Sydney Medical School University of SydneySydney 2050Australia School of Biotechnology and Biomolecular Sciences University of New South WalesSydney 2033Australia

Next-generation sequencing(NGS) technologies generate thousands to millions of genetic variants per sample.Identification of potential disease-causal variants is labor intensive as it relies on filtering using various annotation metrics and consideration of multiple pathogenicity prediction scores.We have developed VPOT(variant prioritization ordering tool),a python-based command line tool that allows researchers to create a single fully customizable pathogenicity ranking score from any number of annotation values,each with a user-defined weighting.The use of VPOT can be informative when analyzing entire cohorts,as variants in a cohort can be prioritized.VPOT also provides additional functions to allow variant filtering based on a candidate gene list or by affected status in a family pedigree.VPOT outperforms similar tools in terms of efficacy,flexibility,scalability,and computational performance.VPOT is freely available for public use at Git Hub(https://***/VCCRI/VPOT/).Documentation for installation along with a user tutorial,a default parameter file,and test data are provided.

关键词： Next-generation sequencing Pathogenicity predictions variant prioritization Customizable ranking Genomic annotation

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Rare variant of pancreaticobiliary maljunction associated with pancreas divisum in a child diagnosed and treated by endoscopic retrograde cholangiopancreatography: A case report

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World Journal of Clinical Cases 2019年第9期7卷 1073-1079页

作者： Guang-Xing Cui Hai-Tao Huang Jian-Feng Yang Xiao-Feng Zhang Department of Gastroenterology Affiliated Hangzhou First People’s Hospital Zhejiang University School of Medicine

BACKGROUND Pancreaticobiliary maljunction(PBM) is an uncommon congenital anomaly of the pancreatic and biliary ductal system, defined as a union of the pancreatic and biliary ducts located outside the duodenal wall. According to the Komi classification of PBM, the common bile duct(CBD) directly fuses with the ventral pancreatic duct in all types. Pancreas divisum(PD) occurs when the ventral and dorsal ducts of the embryonic pancreas fail to fuse during the second month of fetal development. The coexistence of PBM and PD is an infrequent condition.Here, we report an unusual variant of PBM associated with PD in a pediatric patient, in whom an anomalous communication existed between the CBD and dorsal pancreatic duct.CASE SUMMARY A boy aged 4 years and 2 mo was hospitalized for abdominal pain with nausea and jaundice for 5 d. Abdominal ultrasound showed cholecystitis with cholestasis in the gallbladder, dilated middle-upper CBD, and a strong echo in the lower CBD, indicating biliary stones. The diagnosis was extrahepatic biliary obstruction caused by biliary stones, which is an indication for endoscopic retrograde cholangiopancreatography(ERCP). ERCP was performed to remove biliary stones. During the ERCP, we found a rare communication between the CBD and dorsal pancreatic duct. After clearing the CBD with a balloon, an 8.5 Fr 4-cm pigtail plastic pancreatic stent was placed in the biliary duct through the major papilla. Six months later, his biliary stent was removed after he had no symptoms and normal laboratory tests. In the following 4-year period, the child grew up normally with no more attacks of abdominal pain.CONCLUSION We consider that ERCP is effective and safe in pediatric patients with PBM combined with PD, and can be the initial therapy to manage such cases,especially when it is combined with aberrant communication between the CBD and dorsal pancreatic duct.

关键词： Pancreaticobiliary maljunction Pancreas divisum Endoscopic retrograde cholangiopancreatography variant Communication Children Case report

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Effect of grain size on α-variant selection in a ZrTiAlV alloy

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Science China(Technological Sciences) 2019年第6期62卷 982-988页

作者： LI FeiTao QIU Xi LIAO ZhongNi LUAN BaiFeng ZHANG XinYu LIU RiPing LIU Qing College of Materials Science and Engineering Chongqing University Chongqing 400044 China Nuclear Power Institute of China Chengdu 610041 China State Key Laboratory of Metastable Materials Science and Technology Yanshan University Qinhuangdao 066004 China

Local crystallographic orientation characteristics of grains with different sizes in a ZrTiAlValloy after interrupted cooling from βphase region are investigated by electron backscatter diffraction(EBSD) technique. A statistical analysis of EBSD data shows that bigger parent β grains present weaker variant selection than smaller grains. The relevant influences are studied by comparing the nucleation behavior of grain boundary α(GBα) and succedent growth stage in varisized grains. In-depth analysis indicates that the deviation between pole of GBα and common pole of adjacent parent β grains is responsible for the smaller degree of variant selection inside the bigger parent β grains. The formation of more than one GBα type at the β/β grain boundary with common pole in bigger grains results in obstructing each other for these variants during the following growth stage, while only one type of GBα nucleate at the β/β grain boundary with common pole in smaller grains and it can freely grow into the interior of the grains, leading to stronger variant selection in smaller β grains.

关键词： variant selection EBSD Burgers orientation relationship nucleation behavior

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Two cases of variant late infantile ceroid lipofuscinosis in Jordan

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World Journal of Clinical Cases 2019年第2期7卷 203-208页

作者： Omar Nafi Bashar Ramadan Olaf Riess Rebecca Buchert Tawfiq Froukh Department of Pediatrics Faculty of Medicine Mutah University Institute of Medical Genetics and Applied Genomics Rare Disease Center University of Tübingen Department of Biotechnology and Genetic Engineering Philadelphia University

BACKGROUND Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. The cases were initially considered as childhood disintegrative disorder(CDD); however, when whole exome sequencing(WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. This is the first report from Jordan.CASE SUMMARY Clinical presentation included developmental delay and initially speech delay,followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia(fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test,thyroid function test, and a brain computed tomography scan were also normal.An electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative state.CONCLUSION This report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

关键词： Ceroid lipofuscinosis Childhood disintegrative disorder Lysosomal storage disorders Neurodegenerative disorders variant late infantile Case report

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Clinical and laboratory features of COVID-19 patients infected with SARS-CoV-2 variant B.1.1.7 versus those infected with other SARS-CoV-2 strains:A retrospective observational study

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Journal of Acute Disease 2022年第6期11卷 236-242页

作者： Zeynep Ergenc Hasan Ergenc AhmetÖztürk Gülsüm Kaya Özlem Karaca Ocak Özgürİnce Department of Internal Medicine Ayancık Government HospitalSinopTurkey Department of Emergency Medicine Çorum Erol Olçok Training and Research HospitalÇorumTurkey Department of Infection Control Committee Sakarya Univercity Training and Research HospitalSakaryaTurkey Department of General Surgeon Medicana International HospitalSamsunTurkey Department of Pulmonology Medicana International HospitalSamsunTurkey

Objective:To investigate the clinical symptoms of coronavirus disease 2019(COVID-19)patients with and without B.1.1.7 mutation.Methods:This retrospective observational study included COVID-19 patients who were divided into two groups,the mutation and the non-mutation group.Demographics characteristics,clinical characteristics,laboratory parameters,and mortality rates were recorded and compared between the two groups.Results:A total of 196 patients were included in the study.The relationship between the mutant virus status and sex,age,comorbidity,survival status,and disease severity was not significant(P>0.05).No significant differences were found in duration of hospitalization between the mutation and the non-mutation group(P>0.05).However,there was a statistically significant difference between patients with and without mutant viruses in hemoglobin,mean platelet volume,procalcitonin,low density lipoprotein,iron-binding capacity,potassium,calcium,C-reactive protein,folate,creatine kinase myocardial band,D-dimer,and international normalized ratio(Pvariant B.1.1.7.Careful monitoring of COVID-19 patients is required for all variants.

关键词： COVID-19 B.1.1.7 variant Mutation Clinical parameters Laboratory parameters

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