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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

Combined Oxidative Phosphorylation deficiency-20-Exome as a Diagnostic Implement

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Journal of Biosciences and Medicines 2024年第6期12卷 7-12页

作者： Paulo Roberto Matos-Neto Lucas Antonissen lima Verde Airton Ferreira da Ponte-Filho Luís eduardo Oliveira Matos Amandha Espavier Trés Paulo Roberto Lacerda Leal Gerardo Cristino-Filho Regina Coeli de Carvalho Porto Carneiro Faculty of Medicine Federal University of Cear Sobral Cear Brazil department of Neurosurgery Federal University of Cear Sobral Cear Brazil department of Neuropediatrics Federal University of Cear Sobral Cear Brazil

Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.

关键词： Oxidative Phosphorylation Epilepsy Exome Mitochondrial defect VARS2

Distinguishing the Regional Atmospheric Controls on Precipitation Isotopic Variability in the Central-Southeast Portion of Brazil

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Advances in Atmospheric Sciences 2022年第10期39卷 1693-1708,I0018-I0020页

作者： Vinícius dos SANTOS Peter MARSHALL FLEMING Luís HENRIQUE MANCINI Stela DALVA SANTOS COTA Graziele Beatriz de lima Rafaela rodrigues GOMES Roberto eduardo KIRCHHEIM Ricardo SANCHÉZ-MURILLO Didier GASTMANS São Paulo State University(UNESP) Environmental Studies Center.Av.24ABased1515-Bela Vista13.506-900Rio Claro(SP)Brazil Center for the development of the Nuclear Technology(CDTN-CNEN) Av.Presidente Antônio Carlos6.627Campus da UFMG-Pampulha31270-90Belo Horizonte(MG)Brazil Universidade de Brasília-UnB Instituto de GeociênciasLaboratório de Isótopos Estáveis.Campus"Darcy Ribeiro"Asa Norte70.910-900Brasília(DF)Brasil Hydrology and Territorial Management Directory(DHT) The Geological Survey of Brazil(CPRM-SGB)São Paulo(SP)Brazil University of Texas at Arlington Earth and Environmental Sciences Department500 Yates StreetArlingtonTexas76019USA Stable Isotopes Research Group and Water Resources Management Laboratory Universidad NacionalHerediaCosta Rica

Precipitation isotope ratios(O and H)record the history of water phase transitions and fractionation processes during moisture transport and rainfall ***,we evaluated the isotopic composition of precipitation over the central-southeastern region of Brazil at different *** isotopic compositions were associated with classical effects(rainfall amount,seasonality,and continentality),demonstrating the importance of vapor recirculation processes and different regional atmospheric systems(South American Convergence Zone-SACZ and Cold Fronts-CF).While moisture recycling and regional atmospheric processes may also be observed on a daily timescale,classical effects such as the amount effect were not strongly correlated(δ^(18)O-precipitation rate r≤-0.37).Daily variability revealed specific climatic features,such asδ^(18)O depleted values(~-6‰to-8‰)during the wet season were associated with strong convective activity and large moisture *** isotopic analysis revealed the role of different moisture sources and transport *** ratios combined with d-excess explain how atmospheric recirculation processes interact with convective activity during rainfall formation *** findings provide a new understanding of rainfall sampling timescales and highlight the importance of water isotopes to decipher key hydrometeorological processes in a complex spatial and temporal context in central-southeastern Brazil.

关键词： precipitation stable water isotopes d-excess moisture source and transport southern Atlantic Ocean and Amazon

Ferric carboxymaltose for anemia in Crohn’s disease patients at a tertiary center:A retrospective observational cohort study

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World Journal of Clinical Cases 2023年第12期11卷 2740-2752页

作者： Natália Souza Nunes Siqueira Livia Bitencourt Pascoal Bruno lima rodrigues Marina Moreira de Castro Alan Sidnei Corrêa Martins Dante Orsetti Silva Araújo Luis eduardo Miani Gomes Michel Gardere Camargo Maria de Lourdes Setsuko Ayrizono Raquel Franco Leal Inflammatory Bowel Disease Research Laboratory GastrocenterColorectal Surgery UnitSchool of Medical SciencesUniversity of Campinas(Unicamp)Campinas 13083-878São PauloBrazil

BACKGROUND Although the gastrointestinal tract is the most affected by Crohn’s disease(CD),the condition triggers other consequent manifestations,and iron deficiency anemia(IDA)is one of the most ***(IV)iron replacement is currently available through several drugs,such as ferric hydroxide sucrose and ferric carboxymaltose(FCM).However,the clinical management of these conditions can be *** To elucidate the drug’s effectiveness,the present study analyzed,through medical records,the clinical and epidemiological data of a cohort of patients with active CD who received IV FCM for the IDA *** This retrospective observational study included 25 patients with active CD,severe anemia,and refractory to previous conventional *** were evaluated two times:During the last treatment with ferric hydroxide sucrose and treatment with *** After treatment with FCM,parameters of IDA assessment significantly improved,serum hemoglobin(Hb)levels increased in 93%of patients(Pdeveloped CD later in life after the age of 40(A3)and with a stenosing(B2)and fistulizing(B3)*** values of Hb and hematocrit after ferric hydroxide sucrose treatment remained similar to those found before *** This study demonstrated that FCM is an important therapeutic strategy for treating IDA in CD patients,achieving satisfactory results in refractory cases.

关键词： Ferric carboxymaltose Iron deficiency anemia Crohn’s disease Inflammatory bowel disease Anemia Clinical management

From liver to hormones:The endocrine consequences of cirrhosis

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World Journal of Gastroenterology 2024年第9期30卷 1073-1095页

作者： Juan eduardo Quiroz-Aldave Elman Rolando Gamarra-Osorio María del Carmen Durand-Vásquez Luciana del Pilar Rafael-Robles Jhean Gabriel Gonzáles-Yovera María Alejandra Quispe-Flores Luis Alberto Concepción-Urteaga Alejandro Román-González José Paz-Ibarra Marcio José Concepción-Zavaleta Non-communicable Diseases Endocrinology Research LineHospital de Apoyo ChepénChepén 13871Peru department of Endocrinology Hospital Víctor Lazarte EchegarayTrujillo 13006Peru department of Endocrinology Clínica Javier PradoLima 15046Peru department of Gastroenterology Hospital Nacional Guillermo Almenara IrigoyénLima 15018Peru department of Endocrinology Hospital de Emergencias GrauLima 15001Peru Internal Medicine Hospital Regional Docente de TrujilloTrujillo 13011Peru department of Endocrinology Hospital Universitario de San Vicente FundaciónMedellin 050010Colombia Internal Medicine Universidad de AntioquiaMedellín 050010Colombia School of Medicine Universidad Nacional Mayor de San MarcosLima 15081Peru department of Endocrinology Hospital Nacional Edgardo Rebagliati MartinsLima 15072Peru Carrera de Medicina Humana Universidad Científica del SurLima 15067Peru

Hepatocrinology explores the intricate relationship between liver function and the endocrine *** liver diseases such as liver cirrhosis can cause endocrine disorders due to toxin accumulation and protein synthesis *** its importance,assessing endocrine issues in cirrhotic patients is frequently *** article provides a comprehensive review of the epidemiology,pathophysiology,diagnosis,and treatment of endocrine disturbances in liver *** review was conducted using the PubMed/Medline,EMBASE,and Scielo databases,encompassing 172 *** cirrhosis is associated with endocrine disturbances,including diabetes,hypoglycemia,sarcopenia,thyroid dysfunction,hypogonadotropic hypogonadism,bone disease,adrenal insufficiency,growth hormone dysfunction,and secondary *** optimal tools for diagnosing diabetes and detecting hypoglycemia are the oral glucose tolerance test and continuous glucose monitoring system,*** can be assessed through imaging and functional tests,while other endocrine disorders are evaluated using hormonal assays and imaging *** options include metformin,glucagon-like peptide-1 analogs,sodium-glucose co-transporter-2 inhibitors,and insulin,which are effective and safe for diabetes *** standards are followed for managing hypoglycemia,and hormone replacement therapy is often necessary for other endocrine *** transplantation can address some of these problems.

关键词： Diabetes mellitus Hypoglycemia Thyroid diseases Hypogonadism Metabolic bone diseases Liver cirrhosis

Photoluminescence emissions of Ca_(1-x)WO_(4):xEu^(3+):Bridging between experiment and DFT calculations

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Journal of Rare Earths 2022年第10期40卷 1527-1534页

作者： Amanda Fernandes Gouveia Marcelo Assis Lara Kelly Ribeiro Aline Estefany Brandao lima eduardo de Oliveira Gomes Daniele Souza Yara Gobato Galvao Ieda Lucia Viana Rosa Geraldo eduardo da Luz Jr Eva Guillamón Elson Longo Juan Andrés Miguel Angel San-Miguel department of Physical and Analytical Chemistry University Jaume I(UJI)12071CastelloSpain Institute of Chemistry State University of Campinas(Unicamp)13083-970CampinasSPBrazil CDMF Federal University of S?o Carlos(UFSCar)P0.Box 67613565-905Sao CarlosSao PauloBrazil departamento de Química Federal University of Piauí(UFPI)64049-550TeresinaPiautBrazil Physics department Federal University of S?o Carlos(UFSCar)P.0.Box 67613565-905Sao CarlosSao PauloBrazil

In this work,the impact of the doping process on the photoluminescence emission of CaWO_(4) as a function of the concentration of Eu^(3+) cation(0.01 mol%,0.02 mol%,0.04 mol%,0.06 mol%,0.08 mol%,and 0.10 mol%) is discussed in ***_(1-x)WO~4:xEu^(3+) samples were successfully synthesized by a simple coprecipitation method followed by microwave *** blue shift in the absorption edge confirms the quantum confinement effect and the band gap energy covers the range from 3.91 to 4.18 eV,as the amount of Eu^(3+) cations *** experimental results are sustained by first-principles calculations,at the density functional theory level,to decipher the geometry and electronic properties,thereby enabling a more accurate and direct comparison between theory and experiment for the Ca_(1-x)WO_(4):xEu^(3+) structure.

关键词： Ca_(1-x)WO_(4):xEu^(3+) DFT calculations Photoluminescence emissions Rare earths

Addition of respiratory exercises to conventional rehabilitation for children and adolescents with cerebral palsy:a systematic review and meta-analysis

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World Journal of Pediatrics 2023年第4期19卷 340-355页

作者： Thálita Raysa de lima Crispim Mansueto Gomes Neto Tafnes Rayane lima Crispim Renivaldo Batista Dias Maria Déborah Monteiro de Albuquerque Micheli Bernardone Saquetto Paulo André Freire Magalhães Research Group of Neonatal and Pediatric Physical Therapy Baby GrUPEPetrolinaPernambucoBrazil Postgraduate Program in Rehabilitation and Functional Performance PPGRDFUniversidade de PernambucoRodovia BR 203Km 2 S/N.Vila EduardoPetrolinaPernambuco56328-900Brazil Research Group of Physiotherapy Department of Physical TherapyUniversidade Federal da BahiaSalvadorBrazil Posgraduate Program in Medicine and Health SalvadorBahiaBrazil

Background Respiratory dysfunctions are an important cause of morbidity and death in cerebral palsy(CP)*** exercises in addition to conventional rehabilitation have been suggested to improve respiratory status in CP *** objective of this systematic review and meta-analysis was to verify the effects of the addition of respiratory exercises to conventional rehabilitation on pulmonary function,functional capacity,respiratory muscle strength,gross motor function and quality of life in children and adolescents with *** We searched for randomized controlled clinical trials in PubMed/Medline,Lilacs,SciELO,EMBASE and Physi-otheraphy Evidence(PEDro)from their inception until July 2022 without language *** that included respiratory exercises(breathing exercise program;feedback respiratory training;incentive spirometer exercise;inspiratory muscle training;and combination of respiratory exercises+incentive spirometer exercise)in combination with conventional rehabilitation for children and adolescents with CP were evaluated by two independent *** mean difference(MD)and 95%confidence interval(CI)were estimated by random effect *** Ten studies met the eligibility criteria,including 324 children aged from 6 to 16 *** meta-analysis showed an improvement in inspiratory muscle strength of 22.96 cmH2O(18.63-27.27,n=55)and pulmonary function of 0.60(0.38-0.82,n=98)for forced vital capacity(L);0.22(0.06-0.39,n=98)for forced expiratory volume at 1 second(L);and 0.50(0.05-0.04,n=98)for peak expiratory flow(L/min).Functional skills in daily living activities improved in the intervention ***'assistance of daily living activities,functional capacity,gross motor function and expiratory muscle strength showed a nonsignificant *** well-being and acceptance and functioning domains improved in only one *** Emerging data show significant enhancements in inspiratory muscle stren

关键词： Breathing exercises Cerebral palsy Inspiratory muscle training Pediatrics Rehabilitation Respiratory exercise

Uncontrolled hypertension in older patients： markers and associated factors to masked and white-coat effect

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Journal of Geriatric Cardiology 2016年第8期13卷 672-678页

作者： Nereida KC lima Julio C Moriguti eduardo Feniolli Division of General lnternal Medicine & Geriatrics Internal Medicine Department Ribeirao Preto Medical School Sao Paulo University Sao Paulo Brazil

BackgroundHypertension 是为心血管的疾病的主要风险因素，多于半老人口影响。知道他们是否有高血压的合适的控制是必要的。这研究的目的是在更旧的 *** 识别联系因素到掩盖的不受管束的高血压和假不受管束的高血压 -- 173 个个人(70.1... 详细信息

BackgroundHypertension 是为心血管的疾病的主要风险因素，多于半老人口影响。知道他们是否有高血压的合适的控制是必要的。这研究的目的是在更旧的 *** 识别联系因素到掩盖的不受管束的高血压和假不受管束的高血压 -- 173 个个人(70.1 ±； 6.7 年旧)有的血压( BP )在办公室并且由监视的回廊 BP ( ABPM )测量了与控制的组(C)的定义，有高办公室 BP 和足够的 ABPM 的个人，叫的白上衣的效果组( WCE )，不受管束( UC )，并且有给取名的适当办公室 BP 和提高的 ABPM 的题目掩盖了效果组(我)。年龄，身体团索引，糖尿病，脉搏压力(PP ) 和蘸在睡觉期间的 BP 被评估(Kruskal-Wallis 测试和逻辑回归模型).ResultsAge 比在 C 和我在 UC 是更高的(P <；0.01 ) ，并且 24-h ABPM PP 在 C 是更低的(48 ±；7 mmHg ) 并且 WCE (51 ±；6 mmHg ) 比在 UC (67 ±；12 mmHg ) 并且我(59 ±；8 mmHg )(P <；0.01 ) 。睡觉收缩 BP 蘸比在 C 在我是更低的(P = 0.03 ) 。女性与我是组的一个更大的机会被联系，它显示出在 *** 期间蘸更老的个人，的更高的 PP 和更低的 BP 办公室 BP 大小不允许将允许从我把 WCE 区分开来与 UC 组和 C 的联系因素的察觉组。ABPM 赞成了更高的 PP 和在掩盖的效果和不受管束的组蘸在睡觉期间的更低的 BP 的鉴定。

关键词：监视的回廊血压高血压掩盖的效果变老白上衣效果

Prevalence of congenital cytomegalovirus infection in preterm,small for gestational age and low birth weight newborns:characteristics and cytokines profile

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World Journal of Pediatrics 2022年第7期18卷 498-504页

作者： Janaina Fortes Lino Llian Martins Oliveira Diniz debora Marques de Miranda Daniela Valadao Freitas Rosa Nathalia Gualberto Souza e Silva eduardo de Souza Nicolau Larissa Goncalves Rezende Lais Silva Carvalho Marianna Fischer de Paula Lopes Luisa Petri Correa Gabriela Mafra de Oliveira Flavia Miranda da Silva Alves Lorena Batista Pascoal Erika lima Dolabella Teixeira da Costal Leni Marcia Anchieta Roberta Maia de Castro Romaneli Odete Valadares Maternity Hospital Belo HorizonteBrazil Pediatrics department.Faculy of Medice of Federal University of Minas Gerais Belo Horizonte.Brazil Molecular Laboratory of the INCT-MM.Faculy of Medicine.Federal University of Minas Gerais-UFMG.Belo Horizonte Brazil Faculty of Medicine.Federal University of Minas Gerais-UFMG Belo Horizonte.Brazil Risoleta Tolentino.Neves University Hospital's Maternity Belo HorizonteBrazil Sofia Feldman Maternity Hospital Belo HorizonteBrazil Hospital das Clinicas Maternity-Federal University of Minas Gerais.Belo Horizonte Brazil Pediatrics department of Federal University of Minas Gerais School Medicine.Minas Gerais.Av Professor Alfredo Balena 190.Belo Horizonte 30130-100Brazil

Cytomegalovirus is the most frequent agent of congenital viral infections,affecting approximately 0.2%-2.4%of live births in different countries[1-7].Universal screening for congenital cytomegalovirus infection in newborns is not a standard practice considering cost-benefit issues and viabil-ity of diagnostic ***,most newborns are asympto-matic and there is no effective treatment for this population[2-5].

关键词： weight birth characteristics