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A comprehensive review of genetic causes of obesity

World Journal of Pediatrics 2024年第1期20卷 26-39页

作者： Marcio Jose Concepcion-Zavaleta Juan Eduardo Quiroz-Aldave Maria del Carmen Durand-Vasquez Elman Rolando Gamarra-Osorio Juan del Carmen Valencia de la Cruz Claudia Mercedes Barrueto-Callirgos Susan Luciana Puelles-Leon Elena de Jesus Alvarado-Leon Frans Leiva-Cabrera Francisca Elena Zavaleta-Gutierrez Luis Alberto Concepcion-Urteaga Jose Paz-ibarra Universidad Cientifica del Sur Bolivar 2150 AvenuePueblo Libre15084LimaPeru Division of medicine Hospital de Apoyo ChepénChepenPeru Division of Family medicine Hospital de Apoyo ChepénChepenPeru Division of Endocrinology Hospital Victor Lazarte EchegarayTrujilloPeru Division of Pediatrics Hospital de Apoyo ChepenChepenPeru Division of internal medicine Hospital de Apoyo ChepenChepenPeru Division of Genetics Universidad Nacional de TrujilloTrujilloPeru Division of Neonatology Hospital Belen de TrujilloTrujilloPeru Division of internal medicine Universidad Nacional de TrujilloTrujilloPeru department of medicine School of MedicineUniversidad Nacional Mayor de San MarcosLimaPeru

Background Obesity is a multifactorial chronic disease with a high,increasing worldwide *** causes account for 7%of the cases in children with extreme *** sources This narrative review was conducted by searching for papers published in the PubMed/MEDLiNE,Embase and SciELO databases and included 161 *** search used the following search terms:"obesity","obesity and genetics","leptin","Prader-Willi syndrome",and"melanocortins".The types of studies included were systematic reviews,clinical trials,prospective cohort studies,cross-sectional and prospective studies,narrative reviews,and case *** The leptin-melanocortin pathway is primarily responsible for the regulation of appetite and body ***,several important aspects of the pathophysiology of obesity remain *** causes of obesity can be grouped into syndromic,monogenic,and polygenic causes and should be assessed in children with extreme obesity before the age of 5 years,hyperphagia,or a family history of extreme obesity.A microarray study,an analysis of the melanocortin type 4 receptor gene mutations and leptin levels should be performed for this *** are three therapeutic levels:lifestyle modifications,pharmacological treatment,and bariatric *** Genetic study technologies are in constant development;however,we are still far from having a personalized approach to genetic causes of obesity.A significant proportion of the affected individuals are associated with genetic causes;however,there are still barriers to its approach,as it continues to be underdiagnosed.

关键词： Leptin Melanocortin Obesity Prader-Willi syndrome Precision medicine

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Recent advances in treatment of follicular lymphoma: efficacy of Pi3Kα/δ inhibitor (TQ-B3525)

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Signal Transduction and Targeted Therapy 2024年第6期9卷 2341-2343页

作者： Takuya Watanabe department of internal medicine and Gastroenterology Watanabe Internal Medicine Aoyama ClinicNiigata-city 9502002Japan

The commented study reports the results of monotherapy using TQ-B3525,a novel phosphatidylinositol-3 kinase(Pi3K)inhibitor developed in China,in patients with refractory/relapsed follicular lymphoma(r/r FL).

关键词： Pi3K lymphoma treatment

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Ferritin and mortality in hemodialysis patients with COViD-19:A systematic review and meta-analysis

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Asian Pacific Journal of Tropical medicine 2024年第1期17卷 4-11页

作者： Ni Wayan Anantika Riani i Gde Raka Widiana Yenny Kandarini Nephrology Division Department of Internal MedicineUdayana University/Udayana University HospitalBaliIndonesia Nephrology Division Department of Internal MedicineUdayana University/Prof.Dr.I.G.N.G.Ngoerah General HospitalBaliIndonesia

Objective:To investigate the difference in serum ferritin levels between deceased and surviving regular hemodialysis patients with ***:We conducted a systematic search across four databases following the PRiSMA statement *** reporting ferritin levels and mortality of regular hemodialysis patients with COViD-19 were *** the random-effects model,we performed a meta-analysis to determine the mean difference in serum ferritin levels between the studied groups,along with their corresponding 95%confidence *** meta-analysis was carried out using Review Manager 5.4 and Stata ***:A total of 1013 patients from seven studies were included in this *** meta-analysis showed higher mean serum ferritin in the deceased compared to surviving regular hemodialysis patients with COViD-19,with a mean difference of 449.43 ng/mL[95%Ci(244.07,654.80),Pi2=58%,P=0.003].Conclusions:Our study found a higher mean of serum ferritin levels in the deceased compared to surviving regular hemodialysis patients with COViD-19.

关键词： Ferritin Mortality Hemodialysis COViD-19 inflammation

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Prevalence of nonalcoholic fatty liver disease in pediatrics and adolescents:a systematic review and meta-analysis

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World Journal of Pediatrics 2024年第6期20卷 569-580页

作者： Eun Joo Lee Miyoung Choi Sang Bong Ahn Jeong-Ju Yoo Seong Hee Kang Yuri Cho Do Seon Song Hong Koh Dae Won Jeon Hye Won Lee department of Pediatrics Yonsei University College of MedicineSeoulKorea Clinical Evidence Research National Evidence-Based Healthcare Collaborating Agency(NECA)SeoulKorea department of internal medicine Nowon Eulji Medical CenterEulji University College of MedicineSeoulKorea department of internal medicine Soonchunhyang University Bucheon HospitalBucheonKorea department of internal medicine Sangkye Paek HospitalInje University College of MedicineSeoulKorea Center for Liver and Pancreatobiliary Cancer National Cancer CenterGoyangKorea department of internal medicine College of MedicineSt.Vincent's HospitalThe Catholic University of KoreaSuwonKorea department of internal medicine Hanyang University College of MedicineSeoulKorea department of internal medicine Yonsei University College of MedicineSeoulKorea

Background As childhood obesity escalates worldwide,the prevalence of nonalcoholic fatty liver disease(NAFLD)in pediatric and adolescent populations is also ***,systematic studies and meta-analyses evaluating the prevalence of pediatric NAFLD remain *** The MEDLiNE,Korean Medical Database(KMBASE),Embase,Global Health,and Cochrane Library databases were searched from January 1997 to April *** terms included NAFLD or steatosis;nonalcoholic or steatohepatitis;child(ren),adolescent,or teenager;and prevalence,incidence,or epidemiology.A random-effects meta-analysis model was used to estimate the prevalence of pediatric *** A total of 2116 publications were found,of which 62 were included in the *** them,27 reported the prevalence in the general population and 39 in the obese *** worldwide pooled prevalence of pediatric NAFLD was 13%[95%confidence interval(Ci)9-18%]in the general population and 47%(95%Ci 41%–53%)in the obese *** 16 studies in the general population and 18 in the obese population,NAFLD prevalence varied by *** the general population,the prevalence of NAFLD was 15%(95%Ci 8%–23%)in males and 10%(95%Ci 6%–15%)in *** the obese population,it was 54%(95%Ci 46%–61%)in males and 39%(95%Ci 30%–49%)in *** The global prevalence of pediatric NAFLD is rising in both the general and obese *** the increasing rates of childhood obesity,epidemiological studies on the prevalence and incidence of NAFLD are needed.

关键词： Meta-analysis Nonalcoholic fatty liver disease Pediatric Prevalence

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Machine learning applications in stroke medicine:advancements,challenges,and future prospectives

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Neural Regeneration Research 2024年第4期19卷 769-773页

作者： Mario Daidone Sergio Ferrantelli Antonino Tuttolomondo internal medicine and Stroke Care Ward Department of Health PromotionMother and Child CareInternal Medicine and Medical SpecialtiesUniversity of Palermo Molecular and Clinical medicine PhD Program University of Palermo

Stroke is a leading cause of disability and mortality worldwide,necessitating the development of advanced technologies to improve its diagnosis,treatment,and patient *** recent years,machine learning techniques have emerged as promising tools in stroke medicine,enabling efficient analysis of large-scale datasets and facilitating personalized and precision medicine *** abstract provides a comprehensive overview of machine learning’s applications,challenges,and future directions in stroke *** introduced machine learning algorithms have been extensively employed in all the fields of stroke *** learning models have demonstrated remarkable accuracy in imaging analysis,diagnosing stroke subtypes,risk stratifications,guiding medical treatment,and predicting patient *** the tremendous potential of machine learning in stroke medicine,several challenges must be *** include the need for standardized and interoperable data collection,robust model validation and generalization,and the ethical considerations surrounding privacy and *** addition,integrating machine learning models into clinical workflows and establishing regulatory frameworks are critical for ensuring their widespread adoption and impact in routine stroke *** learning promises to revolutionize stroke medicine by enabling precise diagnosis,tailored treatment selection,and improved *** research and collaboration among clinicians,researchers,and technologists are essential for overcoming challenges and realizing the full potential of machine learning in stroke care,ultimately leading to enhanced patient outcomes and quality of *** review aims to summarize all the current implications of machine learning in stroke diagnosis,treatment,and prognostic *** the same time,another purpose of this paper is to explore all the future perspectives these techniques can provide in combating this disabling dis

关键词： cerebrovascular disease deep learning machine learning reinforcement learning stroke stroke therapy supervised learning unsupervised learning

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Colon cancer screening:What to choose?

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World Journal of Gastrointestinal Oncology 2024年第8期16卷 3393-3396页

作者： Martin Alonso Gomez Zuleta department of internal medicine Head of Gastroenterology UnitUniversidad Nacional de ColombiaHospital Universitario Nacional de ColombiBogota 571Colombia

Colorectal cancer is one of the predominant tumors in the world,primarily generated by a progression from polyp to cancer which can last several years,giving a great opportunity to the scientific community for its prevention by screening programs that can be done with invasive and non-invasive *** this issue,Lopes et al show us an excellent review of screening,its options,its advantages and disadvantages.

关键词： Colon cancer Adenoma Screening Fecal immunochemical test Colonoscopy

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Clinical features of gastroesophageal reflux disease and erosive esophagitis:insights from patients undergoing esophagogastroduodenoscopy in resource-limited Ethiopia

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World Journal of Gastroenterology 2024年第34期30卷 3883-3893页

作者： Firehiwot A Mengistie Abate B Shewaye Abel T Tasamma Zekarias S Ayalew department of internal medicine Addis Ababa UniversityAddis Ababa 1176Addis AbabaEthiopia department of internal medicine Rheum Rheumatology and Internal Medicine Specialty ClinicAddis Ababa 1000Addis AbabaEthiopia Division of Gastroenterology and Hepatology Department of Internal MedicineAdera Medical and Surgical CenterAddis Ababa 1000Addis AbabaEthiopia

BACKGROUND Gastroesophageal reflux disease(GERD)is a common disease worldwide with varying clinical presentations and risk *** data for Africa is lacking,but an increasing trend is expected due to demographic and epidemiological *** endoscopic studies for general gastrointestinal disorders have shown some patients with erosive esophagitis(EE),no studies in Ethiopia have investigated the clinical characteristics,risk factors,and severity of GERD using esophagogastroduodenoscopy(EGD).AiM To assess the clinical features of GERD in Ethiopian patients who underwent EGD and determine the severity and risk factors of *** We conducted a multicenter,retrospective cross-sectional study of 221 patients diagnosed with GERD and endoscopic findings of EE at Trauma Associated Severe Hemorrhage and Amniotic Membrane Stem Cell between January 2019 and August *** were collected from electronic medical records and phone call *** used descriptive statistics and binary logistic regression analysis with SPSS version 26 to identify the association between variables with a statistical significance set at P valueients was 44.8(±15.9)years,with a male-to-female ratio of 1.6:*** most commonly reported symptom was epigastric pain(80.5%),followed by heartburn(43%).Los Angeles(LA)-A EE was diagnosed in 71.1%of patients,followed by LA-B(14.9%),LA-C(7.7%),and LA-D(5.9%).Multivariate analysis showed that age 50 or above,presence of bleeding,and endoscopic findings of duodenitis/duodenopathy were significantly associated with severe EE(Picture and Barrett’s esophagus were observed in 4.5%and 1.36%of patients with EE,*** Most of the patients had milder EE with fewer ***,severe EE was more prevalent in older patients and those with duodenitis/duodenopathy.

关键词： Gastroesophageal reflux disease Erosive esophagitis Hiatal hernia Esophagogastroduodenoscopy Heart burn

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Navigating the autophagic landscape:Epigenetic modulation in gastrointestinal cancer

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World Journal of Gastroenterology 2024年第31期30卷 3628-3634页

作者： Davide Ramoni Federico Carbone Fabrizio Montecucco department of internal medicine University of GenoaGenoa 16132Italy department of internal medicine University of Genoa and IRCSS Policlinico San MartinoGenoa 16132Italy

This editorial comments on the manuscript by Chang et al,focusing on the still elusive interplay between epigenetic regulation and autophagy in gastrointestinal diseases,particularly ***,essential for cellular homeostasis,exhibits diverse functions ranging from cell survival to death,and is particularly implicated in physiological gastrointestinal cell ***,its role in pathological backgrounds remains intricate and *** underscore the dual nature of autophagy in cancer,where its early suppressive effects in early stages are juxtaposed with its later promotion,contributing to *** discrepancy is attributed to the dysregulation of autophagy-related genes and their intricate involvement in cellular *** modifications and regulations of gene expression,including non-coding RNAs(ncRNAs),emerge as critical players in exerting regulatory control over autophagy flux,influencing treatment responses and tumor *** epigenetic mechanisms and improving strategies involving the inhibition or induction of autophagy through pharmacological or genetic means present potential avenues to sensitize tumor cells to ***,nanocarrier-based delivery of ncRNAs offers innovative therapeutic *** the intricate interaction between autophagy and ncRNA regula-tion opens avenues for the development of targeted therapies,thereby improving the prognosis of gastrointestinal malignancies with poor outcomes.

关键词： Epigenetic regulation Autophagy Gastrointestinal cancer Non-coding RNAs Target therapies

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RNA modifications in the progression of liver diseases:from fatty liver to cancer

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Science China(Life Sciences) 2024年第10期67卷 2105-2119页

作者： Simiao Li Wajahat Z Mehal Xinshou Ouyang department of internal medicine Section of Digestive DiseasesYale University School of MedicineNew Haven CT 06520USA

Non-alcoholic fatty liver disease(NAFLD)has emerged as a prominent global health concern associated with high risk of metabolic syndrome,and has impacted a substantial segment of the *** disease spectrum ranges from simple fatty liver to non-alcoholic steatohepatitis(NASH),which can progress to cirrhosis and hepatocellular carcinoma(HCC)and is increasingly becoming a prevalent indication for liver *** existing therapeutic options for NAFLD,NASH,and HCC are limited,underscoring the urgent need for innovative treatment *** into gene expression,particularly RNA modifications such as N6methyladenosine(m^(6)A),hold promising avenues for *** modifications play integral roles in RNA metabolism and cellular functions,encompassing the entire NAFLD-NASH-HCC *** review will encompass recent insights on diverse RNA modifications,including m^(6)A,pseudouridine(Ψ),N^(1)-methyladenosine(m^(1)A),and 5-methylcytidine(m^(5)C)across various RNA *** will uncover their significance in crucial aspects such as steatosis,inflammation,fibrosis,and ***,prospective research directions and therapeutic implications will be explored,advancing our comprehensive understanding of the intricate interconnected nature of these pathological conditions.

关键词： m^(6)A RNA modification NASH NAFLD HCC fatty liver

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Fecal calprotectin and endoscopic scores: The cornerstones in clinical practice for evaluating mucosal healing in inflammatory bowel disease

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World Journal of Gastroenterology 2024年第24期30卷 3022-3035页

作者： Marcia Henriques de Magalhães Costa Ligia Yukie Sassaki Júlio Maria Fonseca Chebli department of Clinical medicine Fluminense Federal UniversityRio de Janeiro 24210-200Brazil department of internal medicine Medical SchoolSão Paulo State University(Unesp)Botucatu 18618-686São PauloBrazil Division of Gastroenterology Department of MedicineUniversity Hospital of The Federal University of Juiz de ForaUniversity of Juiz de Fora School of MedicineJuiz de Fora 36036-247Minas GeraisBrazil

Managing inflammatory bowel disease(iBD)is becoming increasingly complex and personalized,considering the advent of new advanced therapies with distinct mechanisms of *** mucosal healing(MH)is a pivotal therapeutic goal in iBD management and can prevent iBD progression and reduce flares,hospitalization,surgery,intestinal damage,and colorectal *** proactive disease and therapy assessment is essential to achieve better control of intestinal inflammation,even if subclinical,to alter the natural course of *** monitoring of fecal calprotectin(FC)levels and interval endoscopic evaluations are cornerstones for evaluating response/remission to advanced therapies targeting iBD,assessing MH,and detecting subclinical ***,we comment on the article by ishida et al Moreover,this editorial aimed to review the role of FC and endoscopic scores in predicting MH in patients with ***,we intend to present some evidence on the role of these markers in future targets,such as histological and transmural *** prospective multicenter studies with a stricter MH criterion,standardized endoscopic and histopathological analyses,and virtual chromoscopy,potentially including artificial intelligence and other biomarkers,are desired.

关键词： Fecal calprotectin Endoscopic scores Mucosal healing Histological healing Ulcerative colitis inflammatory bowel diseases

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