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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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Cholesterol business:lifeor death byrust

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Signal Transduction and Targeted Therapy 2024年第4期9卷 1247-1248页

作者： Shubhangi Gavalil Francesca Maremonti Andreas Linkermann division of Nephrology Department of Internal Medicine 3University Hospital Carl Gustav Carus at the Technische Universitat DresdenDresdenGermany division of Nephrology Department of MedicineAlbert Einstein College of MedicineBronxNYUSA

In two recent manuscripts published in Nature,the cholesterol-synthesis pathway was identified as a master regulator of ferroptosis sensitivity and therefore as a novel therapeutic target.1,2 Ferroptosis does not only represent one way to eliminate cancer cells,but also contributes to acute organ damage in the kidney,heart,brain,and liver,and it kills tissues during the process of organ *** term“ferroptosis”should be defined as a cellular process of iron-catalyzed lipid peroxidation-mediated rupture of the plasma membrane.

关键词： rupture death damage

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Unveiling sinus venosus atrial septal defect and partial anomalous pulmonary venous return in an elderly patient

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Journal of Geriatric Cardiology 2024年第4期21卷 462-464页

作者： Cristina M Font Anamarys Blanco Fernandez Dinesh Kadariya Department of medicine Division of CardiologyUniversity of Florida College of MedicineJacksonvilleFloridaUSA

Sinus venosus defect(SVD) accounts for 4%–11% of all atrial septal defects(ASD) and may present with dyspnea, heart failure(HF), palpitations, or angina.^[1] The malformation typically involves an interatrial communication due to a deficiency in the common wall connecting the right pulmonary veins and the superior vena cava(SVC) and often accompanies anomalous pulmonary venous connection of some or all of the pulmonary veins.

关键词： atrial septal venous

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Engineering nanomedicines for immunogenic eradication of cancer cells:Recent trends and synergistic approaches

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Acta Pharmaceutica Sinica B 2024年第6期14卷 2475-2504页

作者： Ahmed O.Elzoghby Omar Samir Hagar E.Emam Ahmed Soliman Riham M.Abdelgalil Yomna M.Elmorshedy Kadria A.Elkhodairy Mahmoud L.Nasr division of Engineering in medicine and division of Renal medicine Department of MedicineBrigham and Women's HospitalHarvard Medical SchoolBoston 02115MAUSA Cancer Nanotechnology Research Laboratory(CNRL) Faculty of PharmacyAlexandria UniversityAlexandria 21521Egypt

Resistance to cancer immunotherapy is mainly attributed to poor tumor immunogenicity as well as the immunosuppressive tumor microenvironment(TME)leading to failure of immune *** therapeutic strategies including chemotherapy,radiotherapy,photodynamic,photothermal,magnetic,chemodynamic,sonodynamic and oncolytic therapy,have been developed to induce immunogenic cell death(ICD)of cancer cells and thereby elicit immunogenicity and boost the antitumor immune ***,many challenges hamper the clinical application of ICD inducers resulting in modest immunogenic ***,we outline the current state of using nanomedicines for boosting ICD of cancer ***,synergistic approaches used in combination with ICD inducing nanomedicines for remodeling the TME via targeting immune checkpoints,phagocytosis,macrophage polarization,tumor hypoxia,autophagy and stromal modulation to enhance immunogenicity of dying cancer cells were *** further highlight the emerging trends of using nanomaterials for triggering amplified ICD-mediated antitumor immune *** reticulum localized ICD,focused ultrasound hyperthermia,cell membrane camouflaged nanomedicines,amplified reactive oxygen species(ROS)generation,metallo-immunotherapy,ion modulators and engineered bacteria are among the most innovative *** challenges,merits and demerits of ICD inducer nanomedicines were also discussed with shedding light on the future role of this technology in improving the outcomes of cancer immunotherapy.

关键词： Immunogenic cell death Immunogenic eradication Nanomedicines Drug delivery Cancer immunotherapy Antitumor immunity T cells Tumor associated antigens Synergistic immune response

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Genomic medicine and cancer clinical trial in Thailand

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Cancer Biology & medicine 2024年第1期21卷 10-15页

作者： Lucksamon Thamlikitkul Napa Parinyanitikul Virote Sriuranpong division of Medical Oncology Department of MedicineFaculty of Medicine Siriraj HospitalMahidol UniversityBangkok 10700Thailand division of Medical Oncology Department of MedicineFaculty of MedicineChulalongkorn University&The King Chulalongkorn Memorial HospitalBangkok 10330Thailand

Introduction Cancer treatment has been revolutionized with the advent of targeted therapy and *** the past,when cancer treatment modalities were restricted,conventional chemotherapy was the only option for systemic *** chemotherapy empirically affects all dividing cells,the targets are virtually *** this regard,toxic effects on normal tissue are essentially inevitable.

关键词： chemotherapy cancer Cancer

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Red cell distribution width/platelet ratio estimates the 3-year risk of decompensation in Metabolic Dysfunction-Associated Steatotic Liver Disease-induced cirrhosis

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World Journal of Gastroenterology 2024年第7期30卷 685-704页

作者： Marcello Dallio Mario Romeo Paolo Vaia Salvatore Auletta Simone Mammone Marina Cipullo Luigi Sapio Angela Ragone Marco Niosi Silvio Naviglio Alessandro Federico Department of Precision medicine Hepatogastroenterology DivisionUniversity of Campania Luigi VanvitelliNaples 80138Italy Department of Precision medicine Clinical Biochemistry DivisionUniversity of Campania Luigi VanvitelliNaples 80138Italy

BACKGROUND For compensated advanced chronic liver disease(cACLD)patients,the first decompensation represents a dramatically worsening prognostic *** on the first decompensation event(DE),the transition to decompensated advanced chronic liver disease(dACLD)can occur through two modalities referred to as acute decompensation(AD)and non-AD(NAD),*** Significant Portal Hypertension(CSPH)is considered the strongest predictor of decompensation in these ***,due to its invasiveness and costs,CSPH is almost never evaluated in clinical ***,recognizing noninvasively predicting tools still have more appeal across healthcare *** red cell distribution width to platelet ratio(RPR)has been reported to be an indicator of hepatic fibrosis in Metabolic Dysfunction-Associated Steatotic Liver Disease(MASLD).However,its predictive role for the decompensation has never been *** In this observational study,we investigated the clinical usage of RPR in predicting DEs in MASLD-related cACLD *** Fourty controls and 150 MASLD-cACLD patients were consecutively enrolled and followed up(FUP)semiannually for 3 *** baseline,biochemical,clinical,and Liver Stiffness Measurement(LSM),Child-Pugh(CP),Model for End-Stage Liver Disease(MELD),aspartate aminotransferase/platelet count ratio index(APRI),Fibrosis-4(FIB-4),Albumin-Bilirubin(ALBI),ALBI-FIB-4,and RPR were *** FUP,DEs(timing and modaities)were *** was assessed at the baseline and on DE occurrence according to the available Clinical Practice *** Of 150 MASLD-related cACLD patients,43(28.6%)progressed to dACLD at a median time of 28.9 months(29 NAD and 14 AD).Baseline RPR values were significantly higher in cACLD in comparison to controls,as well as MELD,CP,APRI,FIB-4,ALBI,ALBI-FIB-4,and LSM in dACLD-progressing compared to cACLD individuals[all P<0.0001,except for FIB-4(P:0.007)and ALBI(P:0.011)].Receiving operator curve a

关键词： Liver cirrhosis Red blood cell distribution width Red blood cell distribution width to platelet ratio Translational medicine Prognostic biomarker

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Is medical management useful in Moyamoya disease?

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World Journal of Clinical Cases 2024年第3期12卷 466-473页

作者： Sombat Muengtaweepongsa Vatcharasorn Panpattanakul Center of Excellence in Stroke Division of NeurologyDepartment of MedicineFaculty of MedicineThammasat UniversityRangsit CampusKlonglaung 12120Pathum ThaniThailand division of Neurology Department of Internal MedicineSchool of MedicineUniversity of PhayaoPhayao 56000Thailand

Moyamoya disease(MMD),characterized by progressive internal carotid artery stenosis and collateral vessel formation,prompts cerebral perfusion complications and is stratified into idiopathic and Moyamoya syndrome subtypes.A multifa-ceted approach toward MMD management addresses cerebral infarctions through revascularization surgery and adjunctive medical therapy,while also navigating risks such as intracranial hemorrhage and cerebral infarction resulting from arte-rial stenosis and fragile collateral *** antithrombotic management reveals a potential role for treatments like antiplatelet agents and anticoagulants,despite the ambiguous contribution of thrombosis to MMD-related infarctions and the critical balance between preventing ischemic events and averting hemo-rrhagic *** doppler has proven useful in thromboembolic detection,despite persisting challenges concerning the efficacy and safety of an-tithrombotic ***,antihypertensive interventions aim to ma-nage blood pressure meticulously,especially during intracerebral hemorrhage,with recommendations and protocols varying based on the patient’s hypertension ***,lipid-lowering therapeutic strategies,particularly employing statins,are appraised for their possible beneficial role in MMD management,even as comprehensive data from disease-specific clinical trials remains ***-prehensive guidelines and protocols to navigate the multifaceted therapeutic ave-nues for MMD,while maintaining a delicate balance between efficacy and safety,warrant further meticulous research and *** protocol manuscript seeks to elucidate the various aspects and challenges imbued in managing and navigating through the complex landscape of MMD treatment.

关键词： Moyamoya disease Cerebral infarction Antithrombotic management Transcranial doppler Revascularization Intracerebral hemorrhage Antihypertensive intervention Lipid-lowering therapies

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Systemic lupus erythematosus in a 15-year-old female with multiple splenic nodules:A case report

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World Journal of Clinical Cases 2024年第12期12卷 2128-2133页

作者： Mi Il Kang Hyeok Chan Kwon division of Rheumatology Department of Internal MedicineDankook University College of MedicineCheonan-si 31116South Korea division of Rheumatology Department of Internal MedicineDankook University HospitalDankook University College of MedicineCheonan-si 31116South Korea

BACKGROUND Systemic lupus erythematosus(SLE)is a chronic inflammatory disease primarily affecting young *** can invade any organ,and various forms of splenic invasion have been *** include splenomegaly and splenic infarction,rupture,and *** study encountered a rare case of splenic involvement,with nodules of various sizes without calcifications or *** SUMMARY A 15-year-old girl presented with arthralgia,weight loss,fever,increased levels of inflammatory markers,and positive antinuclear antibody test *** patient was diagnosed with *** was asymptomatic while taking steroids and *** months after discharge,the patient developed a fever and abdominal *** enteritis was suspected,and abdominopelvic computed tomography(AP-CT)was *** were no specific findings in the gastrointestinal tract,but multiple splenic nodules were *** or hemangioma was considered;however,no specific radiological findings were observed.A biopsy of the spleen was performed to determine the possibility of *** histological findings of the spleen included extensive periarteriolar necrosis with hematoxylin bodies and numerous karyorrhectic *** on the biopsy results,the patient was diagnosed with an SLE flare-up and was maintained on high-dose steroids and *** As disease activity increased,multiple nodules in the spleen that were previously unseen were observed using AP-CT and histologically *** invasion by SLE can appear in multiple nodular forms and ***,physicians should consider these findings when differentiating these nodules from infections and malignancies.

关键词： Multiple nodules Spleen Splenectomy Systemic lupus erythematosus Differential diagnosis Case report

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Association between baseline levels of muscular strength and risk of stroke in later life:The Cooper Center Longitudinal Study

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Journal of Sport and Health Science 2024年第5期13卷 642-649页

作者： Stephen W.Farrell David Leonard Qing Li Carolyn E.Barlow Kerem Shuval Jarett D.Berry Andjelka Pavlovic Laura F.DeFina Research division The Cooper InstituteDallasTX 75230USA Department of Internal medicine University of Texas at Tyler School of MedicineTylerTX 75799USA

Background:Muscular strength is an important component of physical *** evaluated the relationship between baseline muscular strength and risk of stroke among adults who were aged≥65 years during ***:We included 7627 healthy adults(mean age=43.9 years,86.0%male)underwent a baseline physical examination between 1980 and *** strength was determined by 1-repetition maximum measures for bench press and leg press and categorized into age-and sex-specific tertiles for each *** fitness(CRF)was assessed via a maximal treadmill exercise *** enrolled in fee-for-service Medicare from 1999 to 2019 were included in the *** between baseline strength and stroke outcomes were estimated using a modified Cox proportional hazards *** a secondary analysis,we examined stroke risk by categories of CRF where Quintile 1=low,Quintiles 2-3=moderate,and Quintiles 4-5=high CRF based on age and ***:After 70,072 person-years of Medicare follow-up,there were 1211 earliest indications of incident *** multivariable analyses,the hazard ratio(95%confidence interval(95%CI))for stroke across bench press categories were 1.0(referent),0.96(0.83-1.11),and 0.89(0.77-1.04),respectively(p trend=0.14).The trend across categories of leg press was also non-significant(p trend=0.79).Adjusted hazard ratio(95%CI)for stroke across ordered CRF categories were 1.0(referent),0.90(0.71-1.13),and 0.72(0.57-0.92)(p trend<0.01).Conclusion:While meeting public health guidelines for muscular strengthening activities is likely to improve muscular strength as well as many health outcomes in older adults,performing such activities may not be helpful in preventing ***,meeting guidelines for aerobic activity is likely to improve CRF and lower stroke risk.

关键词： Cardiorespiratory fitness Medicare Muscular strength Stroke

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A robust genomic-based prognostic model for the assessment ofcancer stemness and survival for patients with hepatocellularcarcinoma

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Hepatobiliary & Pancreatic Diseases International 2024年第1期23卷 97-102页

作者： Cheng-Li Du Shen-Yu Wei Yun-Hao Chen Kang-Jie Chen division of Thoracic Surgery First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003China Zhejiang University School of medicine Hangzhou 310003China division of Hepatobiliary Pancreatic Surgery First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003China

To the Editor:Hepatocellular carcinoma(HCC)is an aggressive malignancy with poor long-term prognosis[1].Liver cancer stem cell(CSC)can drive the metastasis,drug resistance,and recurrence of HCC[2].The regulatory mechanisms about liver cancer stemness have been investigated,which encouraged the identification and characterization of novel prognostic and therapeutic strategies for HCC[3].

关键词： cancer prognosis Liver

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