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A comprehensive review of genetic causes of obesity

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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

Focal incidental colorectal fluorodeoxyglucose uptake:Should it be spotlighted?

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World Journal of Clinical Cases 2024年第15期12卷 2466-2474页

作者： Haejun Lee Kyung-Hoon Hwang Department of nuclear medicine Gachon University College of MedicineGil Medical CenterIncheon 21565South Korea

Fluorine-18 fluorodeoxyglucose(F-18 FDG)positron emission tomography/computed tomography(PET/CT)has emerged as a cornerstone in cancer evaluation imaging,with a well-established history spanning several *** imaging modality,encompassing the examination of the body from the base of the skull to the upper thighs,comprehensively covers the chest and abdominopelvic regions in a singular scan,allowing for a holistic assessment of nearly the entire body,including areas of marginal *** inherent advantage of this expansive scan range lies in its potential to unveil unexpected incidental abnormal hypermetabolic *** identification of incidental focal FDG uptake within colorectal regions during PET/CT scans is not an uncommon occurrence,albeit fraught with challenges associated with non-specific FDG *** presence of benign colorectal lesions or physiological uptake poses a particular obstacle,as these may manifest with FDG uptake levels that mimic ***,physicians are confronted with a diagnostic dilemma when encountering abnormal FDG uptake in unexpected colorectal *** studies have presented divergent results concerning these *** uptake value and its derivatives have served as pivotal metrics in quantifying FDG uptake in PET *** this article,we aim to succinctly explore the distinctive characteristics of FDG,delve into imaging findings,and elucidate the clinical significance of incidental focal colorectal *** discussion aims to contribute valuable insights into the nuanced interpretation of such findings,fostering a comprehensive understanding.

关键词： Focal Incidental Colorectal Fluorodeoxyglucose Positron emission tomography Hypermetabolism

Unexpected focal fluorodeoxyglucose uptake in main organs;pass through or pass by?

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World Journal of Clinical Cases 2024年第11期12卷 1885-1899页

作者： Haejun Lee Kyung-Hoon Hwang Department of nuclear medicine Gachon University College of MedicineGil Medical CenterIncheon 21565South Korea

Since the inception of fluorine-18 fluorodeoxyglucose(F-18 FDG),positron emission tomography/computed tomography(PET/CT)utilizing F-18 FDG has become widely accepted as a valuable imaging modality in the field of oncology,with global prevalence in clinical *** that a single Torso PET/CT scan encompasses the anatomical region from the skull base to the upper thigh,the detection of incidental abnormal focal hypermetabolism in areas of limited clinical interest is both feasible and not *** investigations have been undertaken to delineate the distinctive features of these findings,yet the outcomes have proven *** incongruent results of these studies present a challenge for physicians,leaving them uncertain about the appropriate course of *** article provides a succinct overview of the characteristics of fluorodeoxyglucose,followed by a comprehensive discussion of the imaging findings and clinical significance associated with incidental focal abnormal F-18 FDG activity in several representative *** conclusion,while the prevalence of unrecognized malignancy varies across organs,malignancies account for a substantial proportion,ranging from approximately one-third to over half,of incidental focal *** light of these rates,physicians are urged to exercise vigilance in not disregarding unexpected uptake,facilitating more assured clinical decisions,and advocating for further active evaluation.

关键词： Incidental Focal Incidentaloma Fluorodeoxyglucose Positron emission tomography Hypermetabolism

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

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

Design and performance evaluation of a large field-of-view dual-particle time-encoded imager based on a depth-of-interaction detector

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nuclear Science and Techniques 2024年第4期35卷 1-14页

作者： Dong Zhao Xu-Wen Liang Ping-Kun Cai Wei Cheng Wen-Bao Jia Da-Qian Hei Qing Shan Yong-Sheng Ling Chao Shi Department of nuclear Science and Technology Nanjing University of Aeronautics and AstronauticsNanjing 211106China Collaborative Innovation Center of Radiation medicine of Jiangsu Higher Education Institutions Suzhou 215000China School of nuclear Science and Technology Lanzhou UniversityLanzhou 730000China

Time-encoded imaging is useful for identifying potential special nuclear materials and other radioactive sources at a *** this study,a large field-of-view time-encoded imager was developed for gamma-ray and neutron source hotspot imaging based on a depth-of-interaction(DOI)*** imager primarily consists of a DOI detector system and a rotary dual-layer cylindrical coded *** EJ276 plastic scintillator coupled with two SiPMs was designed as the DOI detector to increase the field of view and improve the imager *** difference in signal time at both ends and the log of the signal amplitude ratio were used to calculate the interaction position *** position resolution of the DOI detector was calibrated using a collimated Cs-137 source,and the full width at half maximum of the reconstruction position of the Gaussian fitting curve was approximately 4.4 *** DOI detector can be arbitrarily divided into several units to independently reconstruct the source distribution *** unit length was optimized via Am-Be source-location experiments.A multidetector filtering method is proposed for image *** method can effectively reduce image noise caused by poor DOI detector position *** vertical field of view of the imager was(-55°,55°)when the detector was placed in the center of the coded mask.A DT neutron source at 20 m standoff could be located within 2400 s with an angular resolution of 3.5°.

关键词： Time-encoded imager Depth-of-interaction detector Dual-particle imaging Hotspot imaging

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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