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Des-Arg(9)bradykinin as a causal metabolite for autism spectrum disorder

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World Journal of Psychiatry 2024年第1期14卷 88-101页

作者： Zhong-Yu Huang Zi-Pan Lyu Hong-Gui Li Hua-Zhi You Xiang-Na Yang Cai-Hui Cha Center for Medical Research on Innovation and Translation Institute of Clinical MedicineGuangzhou First People’s HospitalSchool of MedicineSouth China University of TechnologyGuangzhou 510000Guangdong ProvinceChina School of Biological Sciences Nanyang Technological UniversityNanyang Ave 639798Singapore Department of pediatrics First Affiliated Hospital of Guangzhou University of Chinese MedicineGuangzhou 510405Guangdong ProvinceChina Department of Nutrition First Affiliated Hospital of Guangzhou University of Chinese MedicineGuangzhou 510405Guangdong ProvinceChina Department of Pediatric Traditional Chinese Medicine clinic Guangzhou Women and Children's Medical CenterGuangzhou 510632Guangdong ProvinceChina Department of Psychology Guangzhou Women and Children's Medical CenterGuangzhou 510632Guangdong ProvinceChina

BACKGROUND Early diagnosis and therapeutic interventions can greatly enhance the developmental trajectory of children with autism spectrum disorder(ASD).However,the etiology of ASD is not completely *** presence of confounding factors from environment and genetics has increased the difficulty of the identification of diagnostic biomarkers for *** To estimate and interpret the causal relationship between ASD and metabolite profile,taking into consideration both genetic and environmental *** A two-sample Mendelian randomization(MR)analysis was conducted using summarized data from large-scale genome-wide association studies(GWAS)including a metabolite GWAS dataset covering 453 metabolites from 7824 European and an ASD GWAS dataset comprising 18381 ASD cases and 27969 healthy *** in plasma were set as exposures with ASD as the main *** causal relationships were estimated using the inverse variant weight(IVW)*** also performed leave-one-out sensitivity tests to validate the robustness of the *** on the drafted metabolites,enrichment analysis was conducted to interpret the association via constructing a protein-protein interaction network with multi-scale evidence from databases including Infinome,SwissTargetPrediction,STRING,and *** Des-Arg(9)-bradykinin was identified as a causal metabolite that increases the risk of ASD(β=0.262,SE=0.064,P_(IVW)=4.64×10^(-5)).The association was robust,with no significant heterogeneity among instrument variables(P_(MR Egger)=0.663,P_(IVW)=0.906)and no evidence of pleiotropy(P=0.949).Neuroinflammation and the response to stimulus were suggested as potential biological processes mediating the association between Des-Arg(9)bradykinin and *** Through the application of MR,this study provides practical insights into the potential causal association between plasma metabolites and *** findings offer perspectives for the discovery of diagnos

关键词： Des-Arg(9)bradykinin Autism spectrum disorder Mendelian randomization Metabolite Enrichment analysis

Role of vitamin D in COVID-19 and other viral infections

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World Journal of Virology 2024年第3期13卷 10-25页

作者： Muhammet Mesut Nezir Engin ÖnerÖzdemir Private Outpatient clinic of Child Follow-up Academy Sakarya 54050Türkiye Division of Allergy and Immunology Department of PediatricsSakarya Research and Training HospitalSakarya UniversityFaculty of MedicineSakarya 54100Türkiye

Vitamin D is a steroid hormone that is naturally produced in the body or obtained through dietary sources,primarily under the influence of UVB *** essential nutrient has a vital role in numerous physiological processes,encom-passing immune function,cell growth,differentiation,insulin regulation,and cardiovascular well-being,along with its pivotal role in sustaining the delicate equilibrium of calcium and phosphate concentrations in the ***,vitamin D reinforces mucosal defense and bolsters the immune system through immunomodulation,making it a critical component of overall *** studies have unveiled the profound connection between vitamin D and the predisposition to respiratory tract infections,including well-known viruses such as influenza and the novel severe acute respiratory syndrome coronavirus ***-min D deficiency has been consistently linked to increased severity of coronavirus disease 2019(COVID-19)and a heightened risk of mortality among afflicted *** observational studies have further substantiated these findings,indicating that levels of vitamin D are linked with both the occurrence and severity of COVID-19 *** D has its influence on viral infections th-rough a multitude of mechanisms,such as promoting the release of antimicrobial peptides and fine-tuning the responses of the immune ***,vitamin D is intertwined with the intricate network of the renin–angiotensin system,suggesting a potential impact on the development of complications related to *** further clinical trials and extensive research are warranted,the existing body of evidence strongly hints at the possible use of vitamin D as a valuable tool in the prophylaxis and management of COVID-19 and other viral infectious diseases.

关键词： COVID-19 SARS-CoV-2 Vitamin D Influenza virus Viral infections

Will artificial intelligence widen the therapeutic gap between children and adults?

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Pediatric Investigation 2024年第1期8卷 1-6页

作者： Matthew Nagy Bryan Sisk Albert Lai Eric Kodish Cleveland clinic Lerner College of Medicine Case Western Reserve UniversityClevelandOhioUSA Department of pediatrics Division of Hematology/OncologyWashington University School of MedicineSt.LouisMissouriUSA Department of Medicine Bioethics Research CenterWashington University School of MedicineSt.LouisMissouriUSA Institute for Informatics Washington University School of MedicineSt.LouisMissouriUSA Department of Pediatric Hematology Oncology and Blood and Marrow Transplantation Cleveland Clinic Children’sClevelandOhioUSA

The impending rise of artificial intelligence(AI)-powered healthcare offers exciting hope for improved care and outcomes in children with serious illnesses.1 The historical precedent in healthcare,however,suggests that advancements in adult care do not necessarily result in proportional progress in *** disparity was first noted in the mid-20th century when tragedies that involved drugs with well-studied and known adult safety profiles,such as sulfonamide elixir and thalidomide,resulted in harm to children due to limited pediatric clinical trial inclusion.2 As a result,legislation in 1962 required drug companies to include package labels that restricted or dissuaded the use of medications in children that were not properly studied in this population.2 Subsequently,physicians became reluctant to prescribe many medications,and pharmaceutical companies had little incentive to enroll children in trials as an unfavorable result could negatively impact sales in the adult market,and a successful outcome would only marginally increase the market pool.3 This lack of access led *** Shirkey to describe children as"therapeutic orphans"in 1968.2 After more than half a century of legislation aimed at increasing pediatric representation in research and drug development(Figure 1),enrollment of children in clinical trials remains disproportionately low,4 with children included in as few as 12%of trials for diseases with a burden equal to,or greater in,the pediatric versus adult population.

关键词： companies Figure properly

Outcomes of long-acting injectable antipsychotics use in pregnancy:A literature review

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World Journal of Psychiatry 2024年第4期14卷 582-599页

作者： Ana V Pejčić Srdjan M Stefanović MilošN Milosavljević Vladimir S Janjić Marko M Folić Nevena D Folić Jovana Z Milosavljević Department of Pharmacology and Toxicology Faculty of Medical SciencesUniversity of KragujevacKragujevac 34000Serbia Department of Pharmacy Faculty of Medical SciencesUniversity of KragujevacKragujevac 34000Serbia Department of clinical Pharmacology University Clinical Center KragujevacKragujevac 34000Serbia Department of Psychiatry Faculty of Medical SciencesUniversity of KragujevacKragujevac 34000Serbia clinic for Psychiatry University Clinical Center KragujevacKragujevac 34000Serbia Center for Pharmaceutical and Pharmacological Research Faculty of Medical SciencesUniversity of KragujevacKragujevac 34000Serbia Department of pediatrics Faculty of Medical SciencesUniversity of KragujevacKragujevac 34000Serbia Pediatric clinic University Clinical Center KragujevacKragujevac 34000Serbia Department of Anatomy Faculty of Medical SciencesUniversity of KragujevacKragujevac 34000Serbia

BACKGROUND Women with a history of serious psychotic disorders are at increased risk of disease relapse during ***-acting injectable(LAI)antipsychotics have been widely used to improve adherence and prevent relapse in patients with various severe psychotic disorders,but there is a lack of high-quality data from previous research on the safety of LAI antipsychotics during *** To summarize relevant data on maternal,pregnancy,neonatal,and developmental outcomes from published cases of LAI antipsychotic use in *** A literature search was performed through November 11,2023,using three online databases:PubMed/MEDLINE,Scopus,and Web of *** reports or case series that reported information about the outcomes of pregnancy in women who used LAI antipsychotics at any point in pregnancy,with available full texts,were *** statistics,narrative summation,and tabulation of the extracted data were *** A total of 19 publications satisfied the inclusion criteria:3 case series,15 case reports,and 1 conference *** reported the outcomes of LAI antipsychotic use in 74 women and 77 *** use of secondgeneration LAI antipsychotics was reported in the majority(n=47;61.0%)of ***-generation LAI antipsychotics were administered during 30 pregnancies(39.0%).Most of the women(approximately 64%)had either satisfactory control of symptoms or no information about relapse,while approximately 12%of them had developed gestational diabetes mellitus.A minority of cases reported adverse outcomes such as stillbirth,spontaneous abortion,preterm birth,low birth weight,congenital anomalies,and neurological manifestations in ***,there were no reports of negative long-term developmental *** Currently available data seem reassuring,but further well-designed studies are required to properly evaluate the risks and benefits of LAI antipsychotic use during pregnancy.

关键词： Antipsychotic agents Long-acting injectable Pregnancy Outcome Review

Complex heterozygous mutations in hereditary spherocytosis:A case report

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World Journal of clinical Cases 2024年第18期12卷 3582-3588页

作者： Miao He Yan-Cheng Lv Yu-Hong Wei Lan-Qin Liu Ling Guo Cheng Li Department of pediatrics The Affiliated Hospital of Southwest Medical UniversityLuzhou 646000Sichuan ProvinceChina Department of clinic Medicine Southwest Medical UniversityLuzhou 646099Sichuan ProvinceChina Sichuan clinical Research Center for Birth Defects The Affiliated Hospital of Southwest Medical UniversityLuzhou 646000Sichuan ProvinceChina

BACKGROUND The aim of this study was to investigate the complex heterozygous mutations of ANK1 and SPTA1 in the same individual and improve our understanding of hereditary spherocytosis(HS)in *** also hope to promote the application of gene detection technology in children with HS,with the goals of identifying more related gene mutations,supporting the acquisition of improved molecular genetic information to further reveal the pathogenesis of HS in children,and providing important guidance for the diagnosis,treatment,and prevention of HS in *** SUMMARY A 1-year and 5-month-old patient presented jaundice during the neonatal period,mild anemia 8 months later,splenic enlargement at 1 year and 5 months,and brittle red blood cell *** testing was performed on the patient,their parents,and *** Model software was used to predict the protein structure of complex heterozygous mutations in ANK1 and *** testing revealed that the patient harbored a new mutation in the ANK1 gene from the father and a mutation in the SPTA1 gene from the *** with the clinical symptoms of the children,it is suggested that the newly discovered complex heterozygous mutations of ANK1 and SPTA1 may be the cause,providing important guidance for revealing the pathogenesis,diagnosis,treatment,and promotion of gene detection technology in children with *** This case involves an unreported complex heterozygous mutation of ANK1 and SPTA1,which provides a reference for exploring HS.

关键词： Hereditary spherocytosis Complex heterozygous mutations ANK1 SPTA1 Gene detection technology Case report

COVID-19 vaccination produces exercise-responsive SARS-CoV-2 specific T-cells regardless of infection history

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Journal of Sport and Health Science 2024年第1期13卷 99-107页

作者： Kyle A.Smith Tiffany M.Zúñiga Forrest L.Baker Helena Batatinha Charles R.Pedlar Shane C.Burgess Michael P.Gustafson Emmanuel Katsanis Richard J.Simpson School of Nutritional Sciences and Wellness The University of ArizonaTucsonAZ 85721USA Department of pediatrics The University of ArizonaTucsonAZ 85724USA Faculty of Sport Allied Health and Performance ScienceSt.Mary's UniversityTwickenham TW14SXUK Institute of Sport Exercise and Health University College LondonLondon WC1E 7HUUK Department of Animal and Comparative Biomedical Sciences The University of ArizonaTucsonAZ 85721USA The University of Arizona Cancer Center The University of ArizonaTucsonAZ 85719USA Laboratory Medicine and Pathology Mayo Clinic ArizonaPhoenixAZ 85054USA Department of Immunobiology The University of ArizonaTucsonAZ 85724USA Department of Medicine The University of ArizonaTucsonAZ 85724USA Department of Pathology The University of ArizonaTucsonAZ 85724USA

Background:The mobilization and redistribution of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)specific T-cells and neutralizing antibodies(nAbs)during exercise is purported to increase immune surveillance and protect against severe coronavirus disease 2019(COVID-19).We sought to determine if COVID-19 vaccination would elicit exercise-responsive SARS-CoV-2 T-cells and transiently alter nAb ***:Eighteen healthy participants completed a 20-min bout of graded cycling exercise before and/or after receiving a COVID-19 *** major leukocyte subtypes were enumerated before,during,and after exercise by flow cytometry,and immune responses to SARS-CoV-2 were determined using whole blood peptide stimulation assays,T-cell receptor(TCR)-βsequencing,and SARS-CoV-2 nAb ***:COVID-19 vaccination had no effect on the mobilization or egress of major leukocyte subsets in response to intensity-controlled graded ***,non-infected participants had a significantly reduced mobilization of CD4+and CD8+naive T-cells,as well as CD4+central memory T-cells,after vaccination(synthetic immunity group);this was not seen after vaccination in those with prior SARS-CoV-2 infection(hybrid immunity group).Acute exercise after vaccination robustly mobilized SARS-CoV-2 specific T-cells to blood in an intensity-dependent *** groups mobilized T-cells that reacted to spike protein;however,only the hybrid immunity group mobilized T-cells that reacted to membrane and nucleocapsid *** increased significantly during exercise only in the hybrid immunity ***:These data indicate that acute exercise mobilizes SARS-CoV-2 specific T-cells that recognize spike protein and increases the redistribution of nAbs in individuals with hybrid immunity.

关键词： Anti-viral COVID-19 Exercise immunology SARS-CoV-2 T-Cells Vaccine

Transplacental transmission of dengue infection

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World Journal of Virology 2024年第3期13卷 1-6页

作者： Leonel Eslatkin Aguilar Zambrano Victor Manuel Vasquez Zevallos Gita Vita Soraya Lola Ayu Istifiani Syafrizal Aji Pamungkas Zulvikar Syambani Ulhaq Department of Medicine Technical University of ManabiManabi 130101Ecuador Department of pediatrics Verdi Cevallos Balda HospitalPortoviejo 130105Ecuador Department of Biochemistry Hasanuddin UniversityMakassar 90245Indonesia Department of Nutrition Faculty of Health SciencesBrawijaya UniversityMalang 65100Indonesia clinic of Yayasan Dana Sosial Al Falah Malang 65100Indonesia Research Center for Preclinical and clinical Medicine National Research and Innovation Agency Republic of IndonesiaCibinong 16911Indonesia

We specifically addressed the persistent challenge of dengue in endemic regions,highlighting the potential seriousness of dengue infection through vertical *** dengue transmission has been well documented,particularly in hyper-endemic regions,including ***,we present a neonate diagno-sed with congenital dengue and review similar cases from previously published *** congenital dengue is commonly infected with severe serotypes of DENV(DENV-1 and DENV-2)infections,favorable outcomes are generally observed.

关键词： Vertical transmission Transplacental Congenital dengue Infectious disease DENV

Prediction of esophageal and gastric histology by macroscopic diagnosis during upper endoscopy in pediatric celiac disease

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World Journal of Gastroenterology 2017年第4期23卷 646-652页

作者： Erin D Boschee Jason YK Yap Justine M Turner Department of pediatrics University of Alberta Edmonton clinic Health Academy University of Alberta Hospital Division of Pediatric Gastroenterology Department of PediatricsUniversity of Alberta

AIMTo determine the sensitivity of macroscopic appearance for predicting histological diagnosis at sites other than duodenum in pediatric celiac disease (CD).METHODSEndoscopic and histologic findings in pediatric patients undergoing upper endoscopy for first-time diagnosis of CD at Stollery Children’s Hospital from 2010-2012 were retrospectively *** charts from 140 patients were reviewed. Esophageal and gastric biopsies were taken in 54.3% and 77.9% of patients, respectively. Endoscopic appearance was normal in the esophagus and stomach in 75% and 86.2%. Endoscopic esophageal diagnoses were eosinophilic esophagitis (EE) (11.8%), esophagitis (7.9%), glycogenic acanthosis (1.3%) and non-specific abnormalities (3.9%). Endoscopic gastric diagnoses were gastritis (8.3%), pancreatic rest (0.9%), and non-specific abnormalities (4.6%). Histology was normal in 76.3% of esophageal and 87.2% of gastric specimens. Abnormal esophageal histology was EE (10.5%), esophagitis (10.5%), glycogenic acanthosis (1.3%) and non-specific (1.3%). Gastritis was reported in 12.8% of specimens. Sensitivity and specificity of normal endoscopy for predicting normal esophageal histology was 86.2% and 61.1%, and for normal gastric histology was 87.4% and 21.4%.CONCLUSIONIn the absence of macroscopic abnormalities, routine esophageal and gastric biopsy during endoscopy for pediatric CD does not identify major pathologies. These findings have cost and time saving implications for clinical practice.

关键词： Endoscopy Histology Esophagus Gastric biopsy Celiac disease

Growth hormone ameliorates hepatopulmonary syndrome and nonalcoholic steatohepatitis secondary to hypopituitarism in a child:A case report

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World Journal of clinical Cases 2022年第18期10卷 6211-6217页

作者： Xiao-Yuan Zhang Ke Yuan Yan-Lan Fang Chun-Lin Wang Department of pediatrics The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina

BACKGROUND Craniopharyngioma is a benign tumor that usually develops in children;however,it is located in the center and close to sensitive structures,such as the pituitary gland and *** the hypothalamus plays a crucial role in the homeostasis of anterior pituitary hormone synthesis,damage to the hypothalamus leads to multiple pituitary hormone deficiencies and non-alcoholic fatty liver disease,including hepatopulmonary syndrome(HPS).HPS has limited treatment and poor *** SUMMARY A girl aged 13 years and 6 mo underwent surgery for craniopharyngioma 6 years *** craniotomy was performed with total resection via the corpus callosum approach,and the tumor at the base was approximately 3.5 cm×3.5 cm×4.0 *** 1 year postoperatively,she exhibited abdominal distension and weakness,and the laboratory tests revealed fatty liver ***,she had not visited the outpatient clinic for 2 *** years ago,she developed decreased activity endurance,severe cyanosis,chest tightness,wheezing,and intermittent and recurrent low fever after mild physical *** ultrasonography,liver biopsy,and contrast echocardiography of the right heart showed cirrhosis and multiple pituitary hormone deficiencies,indicating *** 1 year of treatment with recombinant human growth hormone,the liver function and oxygenation improved;she did not undergo liver *** Craniopharyngioma surgery can easily cause hypopituitarism,which can lead to nonalcoholic steatohepatitis and HPS in *** growth hormone therapy is important to improve the prognosis of these diseases.

关键词： Craniopharyngioma Nonalcoholic fatty liver disease Hypopituitarism Hepatopulmonary syndrome Growth hormone Children Case report