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Clinical Facial Study of the Parents of Children with OAV (Oculo-Auriculo-Vertebral) Syndrome. Cases and Controls

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International Journal of Otolaryngology and Head & Neck Surgery 2020年第2期9卷 53-60页

作者： maría de la Luz Arenas-Sordo claudia I. Cruz-Ugalde Eny Paola Linares-mendoza Julieta Karina Peñ uelas-Romero Beatriz C. Aldape-Barrios Genetics Department Instituto Nacional de Rehabilitación “Luis Guillermo Ibarra Ibarra” Mexico City México School of Dentistry Universidad Nacional Autónoma de México University City Mexico City México

Introduction: The oculo-auriculo-vertebral syndrome is a complex disease of the head and neck. Aim: The purpose of this study was to look for facial asymmetry, measuring both sides of the mandible and external ear in the parents of these patients in a clinical way, to see if it could be considered as a minor manifestation of the disease. Patients and methods: A clinical, observational study was done with 50 trios and their parents’ controls, at the Instituto Nacional de Rehabilitación LGII in 2019, from January to may. mandible and ear measurements were done. Results: All of our patients had microtia and facial asymmetry, and in 17 cases, other anomalies. We compared both sides of the mandible in the patients’ parents and in the parents’ controls. The results showed differences only in the fathers, and in the comparison with the controls, we found statistical differences only in women, family and non-family cases. The ears did not show any differences. Discussion: It is very interesting that we found differences in the measurements of the mandible of the patients’ mothers and their controls;in the mothers the mandible was bigger than in the controls, this probably means that the development of the cranial structures is modified by some genetic variants. No differences were found in the measurements of the ears. Conclusion: It is very difficult to know exactly if the differences we found are important or not. The clinical measurements could be a good option to establish if the parents have minor manifestations that could explain some heritability.

关键词： Oculo-Auriculo-Vertebral Syndrome microtia Facial Asymmetry

Evolution of nonspecific duodenal lymphocytosis over 2 years of follow-up

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World Journal of Gastroenterology 2015年第24期21卷 7545-7552页

作者： Giuseppe Losurdo Domenico Piscitelli Antonio Giangaspero mariabeatrice Principi Francesca Buffelli Floriana Giorgio Lucia montenegro claudia Sorrentino Annacinzia Amoruso Enzo Ierardi Alfredo Di Leo Gastroenterology Section Department of Emergency and Organ Transplantation University of Bari

AIm: To assess the evolution of duodenal lymphocytosis(DL), a condition characterized by increased intraepithelial lymphocytes(IELs), over 2 years of ***: Consecutive patients undergoing upper endoscopy/histology for abdominal pain, diarrhea, weight loss, weakness or other extraintestinal features compatible with celiac disease(CD) were included. Evaluation of IELs infiltrate in duodenal biopsy sampleswas carried out by CD3-immunohistochemistry and expressed as number of positive cells/100 enterocytes. Diagnostic agreement on the IELs count was tested by calculating the weighted k coefficient. All patients underwent serological detection of autoantibodies associated with CD: Ig G and Ig A anti-tissue transglutaminase and endomysium. Each patient underwent further investigations to clarify the origin of DL at baseline and/or in the course of 2 years of follow-up every six months. Autoimmune thyroiditis, intestinal infections, parasitic diseases, bacterial intestinal overgrowth, hypolactasia and wheat allergy were detected. Colonoscopy and enteric magnetic resonance i m a g i n g w e r e p e r f o r m e d w h e n n e c e s s a r y. R i s k factors affecting the final diagnosis were detected by multinomial logistic regression and expressed as ***: Eighty-five patients(16 males, 69 females, aged 34.1 ± 12.5 years) were followed up for a mean period of 21.7 ± 11.7 mo. At baseline, endoscopy/duodenal biopsy, CD3 immunohistochemistry revealed: > 25 IELs/100 enterocytes in 22 subjects, 15-25 IELs in 37 and m anti-transglutaminase and anti-endomysium, whilst 5 showed Ig G anti-gliadin positivity. In the course of follow-up, 23 developed CD seropositivity and gluten sensitivity(GS) was identified in 19. Other diagnoses were: 5 Helicobacter pylori infections, 4 jejunal Crohn's disease, 1 lymphocytic colitis and 1 systemic sclerosis. The disease in the remaining 32 patients was classified as irritable bowel syndrom

关键词： Duodenal lymphocytosis Celiac disease Gluten sensitivity Seronegative celiac disease Intraepitheliallymphocytes Immunohistochemistry

Wnt genes in colonic polyposis predisposition

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Genes & Diseases 2023年第3期10卷 753-757页

作者： Isabel Quintana mariona Terradas Pilar mur Iris B.A.Wte Paske Sophia Peters Isabel Spier Verena Steinke-Lange claudia maestro David Torrents montserrat Puiggròs Romina Royo Raul Tonda Genís Parra Davide Piscia Sergi Beltrán matilde Navarro Virginia Piñol Joan Brunet Noemi Gonzalez-Abuin Gemma Aiza Anna Sommer Yasmijn van Herwaarden Galuh Astuti Elke Holinski-Feder Nicoline Hoogerbrugge Richarda mde Voer Stefan Aretz Gabriel Capellá Laura Valle Hereditary Cancer Program Catalan Institute of OncologyOncobell ProgramIDIBELLHospitalet de LlobregatBarcelona 08908Spain Centro de Investigación Biomédica en Red de Cáncer(CIBERONC) Madrid 28029Spain Department of Human Genetics Radboud Institute for Molecular Life SciencesRadboud University Medical CenterGA Nijmegen 6525the Netherlands member of SOLVE-RD ERN-GENTURIS Institute of Human Genetics Medical FacultyUniversity of BonnBonn 53127Germany National Center for Hereditary Tumor Syndromes University Hospital BonnBonn 53127Germany medizinische Klinik Und Poliklinik IV Campus InnenstadtKlinikum Der Universität MünchenMunich 80336Germany mGZ-medizinisch Genetisches Zentrum Munich 80335Germany Life Sciences Department Barcelona Supercomputing Center(BSC)Barcelona 08034Spain ICREA Barcelona 08010Spain CNAG-CRG Centre for Genomic Regulation(CRG)Barcelona Institute of Science and TechnologyBarcelona 08028Spain Universitat Pompeu Fabra(UPF) Barcelona 08002Spain Department of Genetics Microbiology and StatisticsSchool of BiologyUniversitat de Barcelona(UB)Barcelona 08028Spain Gastroenterology Unit Hospital Universitario de Girona Dr Josep TruetaGirona 17007Spain Catalan Institute of Oncology IDIBGiGirona 17007Spain Department of Gastroenterology and Hepatology Radboud University Medical CenterGA Nijmegen 6525the Netherlands Department of Human Genetics Radboud University Medical CenterGA Nijmegen 6525the Netherlands

much of the genetic predisposition to polyposis,and particularly to serrated polyposis(SP),remains *** germline pathogenic variants in RNF43,a tumor suppressor that exerts negative feedback in the Wnt/β-catenin signaling pathway,have been causally linked to some SP cases(most known hereditary CRC and polyposis genes affect DNA repair,BmP/TGF-β,or Wnt signaling,being the latter associated with adenomatous and serrated polyposis phenotypes.2 Based on this observation,we evaluated the presence and role of germline variants in those pathways in unsolved polyposis patients.

关键词： polyposis suppressor colorectal

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临床实践指南应当包含治疗负担

中国医院院长 2019年第3期15卷 22-22,24,26页

作者： claudia C Dobler Nathan Harb Catherine A maguire Carol L Armour Courtney Coleman m Hassan murad 邓璇(翻译) 莫云凌(校) Evidence Based Practice Center Robert D and Patricia E Kern Center for the Science of Health Care Delivery Mayo Clinic Rochester MN USA Woolcock Institute of medical Research University of Sydney Sydney NSW Australia South Western Sydney Clinical School University of New South Wales NSW Sydney Australia

claudia Dobler和同事们认为,指南中明确增加有关治疗负担的内容能够改善治疗决策。医疗方案的实施需要花费大量时间和精力,给慢性病患者带来巨大负担。然而,临床实践指南高度重视的是得到某些临床结果(如呼吸急促减少或存活率增加),传... 详细信息

claudia Dobler和同事们认为,指南中明确增加有关治疗负担的内容能够改善治疗决策。医疗方案的实施需要花费大量时间和精力,给慢性病患者带来巨大负担。然而,临床实践指南高度重视的是得到某些临床结果(如呼吸急促减少或存活率增加),传统指南的建议也是从同样角度提出的。最近的指南会考虑患者的价值观以及指南建议行为的可接受性和可行性,但对治疗负担没有明确规定。这使患者很难根据自己的价值观和能力对治疗作出明智的决定。

关键词：临床实践指南慢性阻塞性肺疾病肺康复急性加重治疗建议慢性病患者工作量

Eclampsia: Epidemiological Aspects and maternal and Foetal Prognosis at the University Teaching Hospital Centre (Uth) of Bouake

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Open Journal of Obstetrics and Gynecology 2023年第9期13卷 1498-1506页

作者： Samaké Yaya menin-messou Benie michele Djanhan Lydie Estelle Akanji Iburaima Alamun m’bro Clausen Georgie Kouadio Kouadio Narcisse Boko Dagoun Dagbesse Elysee Camara Sokhona Soro Dorcas Wassoholo Gadji claudia michelle Diakité Imourana Aminata Yebouet N’Zibla marie Ange Daho Aboudramane Doumbia Yacouba Department of Gynaecology-Obstetrics Centre Hospitalier Universitaire de Bouaké Bouaké C&#244te d’Ivoire Department of mother and Child Alassane Ouattara University Bouaké C&#244te d’Ivoire

Objective: To determine the epidemiology and maternal-fetal prognosis of eclampsia at Bouaké University Teaching Hospital. material and methods: This was a prospective study with descriptive and analytical aims over a period from 01 January 2019 to 31 December 2021. It took place in the obstetrics and gynaecology department of the Bouaké University Teaching Hospital. The inclusion criterion was any seizure in the gravid-puerperal period in the context of preeclampsia. Data were entered and analysed using EPI INFO software version 7.***.2.6. Results: We performed 20,958 deliveries and recorded 241 cases of eclampsia, representing a prevalence of 1.14%. The ages of the participants ranged from 13 to 47 years with a mean age ± SD of 22 ± 7 years. The age group ≤ 19 years represented 45.64% of participants. Housewives accounted for 46.47%, and single women accounted for 54.77% of participants. The average parity ± SD was 1 ± 1.6 with range of 0 to 10, and nulliparous women accounted for 49.8% of participants. Patients who were evacuated accounted for 74.27% of our study population. The majority of eclampsia attacks occurred in the antepartum period (56.84%). The mean gestational age ± SD was 36 ± 3.6 weeks with a range of 24 to 42 weeks. The mode of delivery was caesarean section in 64.7% of cases. maternal lethality was 7.88%. The factors associated with maternal mortality due to eclampsia were evacuation and parity of less than 3. maternal morbidity was 16.6%. Neonatal lethality was 18.95%. The factor associated with neonatal death in eclampsia was prematurity. Conclusion: We need to detect and manage preeclampsia early and effectively to reduce the frequency of eclampsia and improve its maternal-foetal prognosis in our context.

关键词： maternal-Foetal Prognosis Eclampsia Bouaké

Fatty liver disease,an emerging etiology of hepatocellular carcinoma in Argentina

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World Journal of Hepatology 2018年第1期10卷 41-50页

作者： Federico Pinero Josefina Pages Sebastián marciano Nora Fernández Jorge Silva margarita Anders Alina Zerega Ezequiel Ridruejo Beatriz Ameigeiras claudia D’Amico Luis Gaite Carla Bermúdez manuel Cobos Carlos Rosales Gustavo Romero Lucas mcCormack Virginia Reggiardo Luis Colombato Adrián Gadano marcelo Silva Hepatology and Liver Transplantation Unit Hospital Universitario AustralBuenos Aires 1629Argentina Hepatology Section Liver Transplant ProgramDepartment of Academic ResearchHospital Italiano from Buenos AiresBuenos Aires 1424Argentina Sanatorio Trinidad San Isidro Buenos Aires 1642Argentina Clínica Privada San Fernando Buenos Aires 2013Argentina Hepatology and Gastroenterology Hospital BritánicoBuenos Aires 1280Argentina Hepatobiliary Surgery Hospital G RawsonSan Juan 5400Argentina Department of Hepatology and Liver Transplant Program Hospital AlemanBuenos Aires 1118Argentina Department of Hepatology and Liver Transplantation Sanatorio AllendeCórdoba 5016Argentina Hepatology Section Department of MedicineCentro de Educación Médica e Investigaciones Clínicas Norberto Department of Hepatology Hospital Ramos MejíaBuenos Aires 1221Argentina Department of Hepatology Centro Especialidades Medicas Ambulatorias(CEMA)Mar del Plata 7600Argentina Department of Hepatology and Liver Transplantation Clínica de Nefrología de Santa FeSanta Fe 3000Argentina Department of Hepatology and Gastroenterology Hospital C Bonorino UdaondoBuenos Aires 1264Argentina Department of Hepatology and Gastroenterology Hospital CentenarioSanta Fe 2002Argentina

AIm To investigate any changing trends in the etiologies of hepatocellular carcinoma(HCC) in Argentina during the last years. mETHODS A longitudinal cohort study was conducted by 14 regional hospitals starting in 2009 through 2016. All adult patients with newly diagnosed HCC either with pathology or imaging criteria were included. Patients were classified as presenting non-alcoholic fatty liver disease(NAFLD) either by histology or clinically, provided that all other etiologies of liver disease were ruled out, fatty liver was present on abdominal ultrasound and alcohol consumption was excluded. Complete follow-up was assessed in all included subjects since the date of HCC diagnosis until death or last medical *** A total of 708 consecutive adults with HCC were included. Six out of 14 hospitals were liver transplant centers(n = 484). The prevalence of diabetes mellitus was 27.7%. Overall, HCV was the main cause of liver disease related with HCC(37%) including cirrhotic and non-cirrhotic patients, followed by alcoholic liver disease 20.8%, NAFLD 11.4%, cryptogenic 9.6%, HBV 5.4% infection, cholestatic disease and autoimmune hepatitis 2.2%, and other causes 9.9%. A 6-fold increase in the percentage corresponding to NAFLDHCC was detected when the starting year, i.e., 2009 was compared to the last one, i.e., 2015(4.3% vs 25.6%; P mellitus was present in NAFLD-HCC group 61.7% when compared to other than NAFLD-HCC 23.3%(P median AFP values at HCC diagnosis were observed between NAFLD-HCC and non-NAFLD groups(6.6 ng/m L vs 26 ng/m L; P = 0.02). Neither NAFLD nor other HCC etiologies were associated with higher *** The growing incidence of NAFLD-HCC documented in the United States and Europe is also observed in Argentina, a confirmation with important Public Health implications.

关键词： Hepatocellular carcinoma Etiology Fatty liver South America

Severe <i>Citrus tristeza virus</i>Isolates from Eastern mexico Are Related to the T36 Genotype Group

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American Journal of Plant Sciences 2020年第10期11卷 1521-1532页

作者： Patricia Rivas-Valencia Santiago Domínguez-monge Ricardo Santillán-mendoza Emiliano Loeza-Kuk Oscar Pérez-Hernández Cynthia G. Rodríguez-Quibrera claudia Lomas-Barrié Instituto Nacional de Investigaciones Forestales Agrícolas y Pecuarias-Campo Experimental Valle de México Carretera Los Reyes-Texcoco km 13.5 Coatlinchán Texcoco México Instituto Nacional de Investigaciones Forestales Agrícolas y Pecuarias-Campo Experimental Ixtacuaco Carretera Martínez de la Tor-re-Tlapacoyan km 4.5 Tlapacoyan Veracruz México Instituto Nacional de Investigaciones Forestales Agrícolas y Pecuarias-Campo Experimental Ixtacuaco Carretera Martínez de la Torre-Tlapacoyan km 4.5 Tlapacoyan Veracruz México Instituto Nacional de Investigaciones Forestales Agrícolas y Pecuarias-Campo Experimental Mocochá Carretera Mérida-Motul km 25 Mocochá Yucatán México School of Agricultural Sciences Northwest Missouri State University Maryville USA

Citrus tristeza virus (CTV) outbreaks have been reported in the main citrus growing region of mexico in the past four years. Recently, in eastern mexico (the major citrus-growing region in the country), severe CTV is... 详细信息

Citrus tristeza virus (CTV) outbreaks have been reported in the main citrus growing region of Mexico in the past four years. Recently, in eastern Mexico (the major citrus-growing region in the country), severe CTV isolates have been detected. However, the molecular identity of observed isolates remains unestablished. This research was undertaken to elucidate the molecular characterization of CTV populations spreading in this region and to compare it with phylogeny of existing isolates. Genotyping of 32 collected isolates was performed using reverse-transcription polymerase chain reaction (RT-PCR) with sequence analysis of the coat protein (CP) gene, putatively associated with pathogenicity. This protein is a 25 kDa major capsid protein, which forms a long virion body coating 95% of the particle length. A comparative sequence analysismily:Verdana;">mily:Verdana;">mily:Verdana;"> was performed using CTV sequences from different geographical origins already published and deposited in the GenBank databases. Phylogenetic analysis showed that the degree of sequence divergence among isolates correlated with their pathogenicity. Based on the sequencing results, the collected isolates were cate

关键词： CTV Epidemiology Severe Isolates Stem Pitting Quick Decline Coat Protein Gene

Timing, method and discontinuation of hydrocortisone administration for septic shock patients

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World Journal of Critical Care medicine 2017年第1期6卷 65-73页

作者： miguel A Ibarra-Estrada Quetzalcóatl Chávez-Pe?a claudia I Reynoso-Estrella Jorge Rios-Zerme?o Pável E Aguilera-González miguel A García-Soto Guadalupe Aguirre-Avalos Critical Care Unit Instituto Jalisciense de Cancerología Critical Care Unit Hospital General Regional #180 Instituto Mexicano del Seguro Social Transplant Care Unit Centro Médico Nacional de Occidente Instituto Mexicano del Seguro Social Centro Universitario de Ciencias de la Salud Universidad de Guadalajara Critical Care Unit Hospital Civil Fray Antonio Alcalde

AIm To characterize the prescribing patterns for hydrocortisone for patients with septic shock and perform an exploratory analysis in order to identify the variables associated with better *** This prospective cohort study included 59 patients with septic shock who received stress-dose *** was performed at 2 critical care units in academic hospitals from June 1st, 2015, to July 31 st, 2016. Demographic data, comorbidities, medical management details, adverse effects related to corticosteroids, and outcomes were collected after the critical care physician indicated initiation of hydrocortisone. Univariate comparison between continuous and bolus administration of hydrocortisone was performed, including multivariate analysis, as well as Kaplan-meier analysis to compare the proportion of shock reversal at 7 d after presentation. Receiver operating characteristic(ROC) curves determined the best cut-off criteria for initiation of hydrocortisone associated with the highest probability of shock reversal. We addressed the effects of the taper strategy for discontinuation of hydrocortisone, noting risk of shock relapse and adverse *** All-cause 30-d mortality was 42%. Hydrocortisone was administered as a continuous infusion in 54.2% of patients; time to reversal of shock was 49 h longer in patients who were given a bolus administration [59 h(range, 47.5-90.5) vs 108 h(range, 63.2-189); P = 0.001]. The maximal dose of norepinephrine after initiation of hydrocortisone was lower in patients on continuous infusion [0.19 μg/kg per minute(range, 0.11-0.28 μg)] compared with patients who were given bolus [0.34 μg/kg per minute(range, 0.16-0.49); P = 0.004]. Kaplan-meier analysis revealed a higher proportion of shock reversal at 7 d in patients with continuous infusion compared to those given bolus(83% vs 63%; P = 0.004). There was a good correlation between time to initiation of hydrocortisone and time to reversal of shock(r = 0.80; P < 0.0001)

关键词： Corticosteroids Hydrocortisone Timing Administration Discontinuation Septic shock

Enrichment of Resveratrol in Wine through a New Vinification Procedure

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Journal of Life Sciences 2015年第7期9卷 327-333页

作者： Raul Francisco Pastor magdalena Raquel Gargantini marcelo murgo Sebastian Prieto Humberto manzano Carla Aruani claudia In6s Quini maria-Isabel Covas Roberto H6ctor Iermoli Section Polyphenols Wine and Health Fourth Chair in Internal Medicine Clinics Hospital University of Buenos Aires BuenosAires C1408FZB Argentina Department Special Analytical Standards National Wine Institute Mendoza M5500AAR Argentina Department Oenological and Sensory Studies National Wine Institute Mendoza M5500AAR Argentina NUPROAS Handesbolag Sicka Alle Nacka 13165 Sweden

Sulphur dioxide is used in the vinification process as an antimicrobial agent, but it is also considered as an important risk factor for liver diseases. Stilbenes have inhibitory effects on the growth of lactic acid bacteria strains isolated from wine. The authors investigated the viability of obtaining free-SO2 resveratrol-enriched red wines. Substitution of sulfite （7 g/100kg） for resveratrol （150 mg/L and 300 mg/L） in the vinification process did not change the basic physical and chemical properties of wine or its sensorial profile To the best of the authors＇ knowledge this is the first time that this type of vinification procedure is reported.

关键词： Vinification sulfur dioxide resveratrol wine enrichment.