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Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

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World Journal of Clinical Cases 2019年第23期7卷 4029-4035页

作者： Adina Neumann Miguel Angel Alcantara-Ortigoza Ariadna Gonzalez-del Angel Felipe Camargo-Diaz Esther Lopez-Bayghen Laboratorio de Investigacion y Diagnostico Molecular Instituto de Infertilidad y Genetica Mexico SCINGENESMexico City 05320Mexico Instituto Nacional de pediatria Torre de InvestigacionMexico City 04530Mexico Laboratorio de Biologia Molecular Departamento de Genetica HumanaInstituto Nacional de PediatriaMexico City 04530Mexico departamento de toxicologia Centro de Investigacion y de Estudios Avanzados del Instituto Politecnico Nacional(CINVESTAV-IPN)Mexico City 07360Mexico

BACKGROUND Laron syndrome(LS)is an autosomal recessive hereditary condition affecting only 1/1000000 *** cause is associated with mutations in the growth hormone(GH)receptor(GHR),leading to GH *** patients typically present with severe growth retardation,obesity,and abnormal sexual ***,LS diagnosis is performed ***,we assessed the efficiency of Pre-implantation Genetic testing(PGt)coupled with monoplex-polymerase chain reaction(PCR)technology for detecting this monogenic disease in embryos from a couple confirmed as LS heterozygous carriers CASE SUMMARY the couple LS-carriers were confirmed by the presence of a first child born with *** couple underwent a standard in vitro fertilization(IVF)*** was collected from trophectoderm cells from day 5 *** genome amplification(WGA)was performed using a Sureplex DNA Amplification System and analyzed by PCR,targeting the deletion of the exons 5 and 6 in the GHR gene as well as PGt by Next-generation Sequencing(Illumina).Eleven embryos were collected and analyzed.27.3%were the wild type for GHR,45.5%were heterozygotes,and 18.2%homozygous *** embryo yielded no *** 2-embryos transfers were performed;2 normal homozygous and four heterozygous carriers were selected for *** first two transfers were unsuccessful,whereas the final transfer with two heterozygous embryos resulted in clinical *** genomic composition of the fetus was verified,applying the same techniques using amniocytes,extracted after 21 wk of the ongoing *** fetus was confirmed as GHR deletion in exon 5-6,carrier.A non-affected baby was *** Here,we present a case demonstrating that using WGA as a template in addition to PCR targeting specific gene regions,exons 5 and 6 on the GHR gene,could identify LS carrier *** provides evidence that WGA and PCR serve as an excellent tool to detect this specific monogenic disease in IVF e

关键词： Growth hormone insensitivity Growth hormone receptor mutations Intragenic deletions Molecular diagnosis Embryo diagnosis Laron syndrome Case report

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Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community:In search of shared genetic markers

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Genes & Diseases 2024年第4期11卷 106-108页

作者： Gloria Garavito-de Egea Alex Dominguez-Vargas Jorg e l.Velez Gustavo Aroca Luis Fagng Elkin Navarro-Quiroz Zilac Espitaleta Kenny del toro-Camargo Leticia Martinez-Ariza tatiana Gonzalez-Vargas Susana Garcia Mauricio Arcos-Burgos Eduardo Egea Universidad del Norte Division Ciencias de la SaludBarranquillaColombia Universidad Simon Bolivar Facultad de Ciencias de la SaludBarranquillaColombia Clinica de la Costa Grupo de Investigacion en NefrologiaBarranquillaColombia Universidad de Antioquia Grupo de Investigacion en Psiquiatria(GIPSI)Departamento de PsiquiatriaInstituto de Investigaciones MedicasFacultad de MedicinaMedellinColombia

Genome-wide association studies(GWASs)have identified hundreds of loci across the human genome conferring susceptibility to autoimmune diseases(AIDs),some of which are shared between more than two ***,this univariate ... 详细信息

关键词： susceptibility diseases diabetes

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Effect of propranolol on the splanchnic and peripheral renin angiotensin system in cirrhotic patients

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World Journal of Gastroenterology 2008年第44期14卷 6824-6830页

作者： Walkíria Wingester Vilas-Boas Antnio Ribeiro-Oliveira Jr Renata da Cunha Ribeiro Renata Lúcia Pereira Vieira Jerusa Almeida Ana Paula Nadu Ana Cristina Sim■es e Silva Robson Augusto Souza Santos Laboratório de Hipertenso Departamento de Fisiologia e BiofísicaICB-UFMGAv. Antonio Carlos6627Belo HorizonteMG31270-901Brazil Laboratório de Endocrinologia Departamento de Clínica MédicaFaculdade de Medicina-UFMGAv. Alfredo Balena190Belo HorizonteMG30130-100Brazil departamento de pediatria Faculdade de MedicinaUniversidade Federal de Minas Gerais (UFMG)Av. Alfredo Balena190Belo HorizonteMG30130-100Brazil

AIM:to evaluate the effect of β-blockade on angiotensins in the splanchnic and peripheral circulation of cirrhotic patients and also to compare hemodynamic parameters during liver transplantation according to propranolol pre-treatment or not. MEtHODS:Patients were allocated into two groups:outpatients with advanced liver disease(LD) and during liver transplantation(Lt). Both groups were subdivided according to treatment with propranolol or not. Plasma was collected through peripheral venipuncture to determine plasma renin activity(PRA),Angiotensin(Ang) Ⅰ,Ang Ⅱ,and Ang-(1-7) levels by radioimmunoassay in LD group. During liver transplantation,hemodynamic parameters were determined and blood samples were obtained from the portal vein to measure renin angiotensin system(RAS) ***:PRA,Ang Ⅰ,Ang Ⅱ and Ang-(1-7) were signifi cantly lower in the portal vein and periphery in all subgroups treated with propranolol as compared to non-treated. the relationships between Ang-(1-7) and Ang Ⅰ levels and between Ang Ⅱ and Ang Ⅰ were significantly increased in LD group receiving propranolol. the ratio between Ang-(1-7) and Ang Ⅱ remained unchanged in splanchnic and peripheral circulation in patients under β-blockade,whereas the relationship between Ang Ⅱ and Ang Ⅰ was significantly increased in splanchnic circulation of Lt patients treated with propranolol. During liver transplantation,cardiac output and index as well systemic vascular resistance and index were reduced in propranolol-treated subgroup. CONCLUSION:In LD group,propranolol treatment reduced RAS mediators,but did not change the ratio between Ang-(1-7) and Ang Ⅱ in splanchnic and peripheral circulation. Furthermore,the modification of hemodynamic parameters in propranolol treated patients was not associated with changes in the angiotensin ratio.

关键词： β-blockade Cirrhosis Renin angiotensinsystem Angiotensin-(1-7)

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Investigation of possible relationship between atopic dermatitis and salivary biomarkers,stress,and sleep disorders

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World Journal of Clinical Cases 2023年第17期11卷 3958-3966页

作者： Juliany Estefan dennis de Carvalho Ferreira Fernanda Sampaio Cavalcante Kátia Regina Netto dos Santos Marcia Ribeiro dermatologia pediátrica Universidade Federal do Rio de JaneiroRio de Janeiro 21941630Brazil Faculdade de Enfermagem Departamento de Fundamentos de EnfermagemUniversidade do Estado do Rio de JaneiroRio de Janeiro 20551030Brazil departamento de Clínica Médica Instituto de Ciências MédicasUniversidade Federal do Rio de JaneiroCampus MacaéRio de Janeiro 27930-560Brazil departamento de Microbiologia Médica Instituto de Microbiologia Paulo de GóesUniversidade Federal do Rio de JaneiroRio de Janeiro 21941630Brazil Genética médica Instituto de Puericultura e Pediatria Martagão Gesteira/Universidade Federal do Rio de JaneiroRio de Janeiro 21941630Brazil

Atopic dermatitis(AD)is a chronic,relapsing,multifactorial inflammatory disease with genetic,environmental,and immunological *** quality of life and sleep of patients and their families are affected by AD,which triggers stress,described as one of the factors that worsens *** biomarkers such as cortisol,alpha-amylase,chromogranin A,and melatonin have been associated with stress and sleep ***,the evaluation of stress and sleep disorders using salivary biomarkers in AD patients is *** review aims to describe the possible relationship between atopic dermatitis and stress,sleep disorders,and salivary biomarkers,seeking to contribute to better understanding and clinical management of *** descriptive study is characterized as a narrative literature review.A literature search was conducted of studies published in English and Portuguese between January 2012 and October 2022 that are available in electronic media from various databases,such as Scientific Electronic Library Online,Latin American and Caribbean Literature on Health Sciences,and *** is associated with different degrees of impact on the lives of individuals who present with the *** stress may induce changes in saliva composition and worsen AD;at the same time,the severity of the disease may be associated with emotional *** studies are needed to assess and correlate AD severity,stress,and sleep disturbances with salivary biomarkers in order to better understand this association.

关键词： Atopic dermatitis Sleep Psychological stress Chromogranin A Melatonin Cortisol

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pediatric functional constipation treatment with Bifi dobacterium-containing yogurt:A crossover,double-blind,controlled trial

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World Journal of Gastroenterology 2011年第34期17卷 3916-3921页

作者： Paula VP Guerra Luiza N Lima tassia C Souza Vanessa Mazochi Francisco J Penna Andreia M Silva Jacques R Nicoli Elizabet V Guimares departamento de pediatria Faculdade de Medicina Universidade Federal de Minas Gerais30130-100 Belo Horizonte MG Brazil departamento de Micro-biologia Instituto de Ciências Biológicas Universidade Federalde Minas Gerais32270-901 Belo Horizonte MG Brazil Andreia M Silva Universidade Federal deSo Joo del Rei Campus de Sete Lagoas35701-970 So Joodel Rey MG Brazil

AIM: to evaluate the treatment of pediatric functional chronic intestinal constipation (FCIC) with a probiotic goat yogurt. MEtHODS: A crossover double-blind formula-controlled trial was carried out on 59 students (age range: 5-15 years) of a public school in Belo Horizonte, MG, Brazil, presenting a FCIC diagnostic, according to Roma Ⅲ criteria. the students were randomized in two groups to receive a goat yogurt supplemented with 109 colony forming unit/mL Bifidobacterium longum (***) (probiotic) daily or only the yogurt for a period of 5 wk (formula). Afterwards, the groups were intercrossed for another 5 wk. defecation frequency, stool consistency and abdominal and defecation pain were ***: Both treatment groups demonstrated improvement in defecation frequency compared to baseline. However, the group treated with probiotic showed most signif icant improvement in the f irst phase of the study. An inversion was observed after crossing over, resulting in a reduction in stool frequency when this group was treated by formula. Probiotic and formula improved stool consistency in the f irst phase of treatment, but the improvement obtained with probiotic was significantly higher (P = 0.03). In the second phase of treatment, the group initially treated with probiotic showed worseningstool consistency when using formula. However, the difference was not signif icant. A signif icant improvement in abdominal pain and defecation pain was observed with both probiotic and formula in the first phase of treatment, but again the improvement was more signif icant for the group treated with B. longum during phase I (P ta of the crossover study were analyzed, significant differences were observed between probiotic yogurt and yogurt only for defecation frequency (P = 0.012), defecation pain (P = 0.046) and abdominal pain (P = 0.015).

关键词： Functional chronic constipation Probiotic Bifi dobacterium longum Yogurt Adolescents Children

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development of hepatorenal syndrome in bile duct ligated rats

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World Journal of Gastroenterology 2008年第28期14卷 4505-4511页

作者： Regina M Pereira Robson AS dos Santos Eduardo A Oliveira Virgínia HR Leite Filipi LC Dias Alysson S Rezende Lincoln P Costa Lucíola S Barcelos Mauro M teixeira Ana Cristina Sim■es e Silva departamento de Ciências Biológicas Centro Universitário de Belo Horizonte-UNIBHAv.Mário WerneckBelo HorizonteMinas Gerais 30150-281Brazil Laboratório de Hipertenso Departamento de Fisiologia e BiofísicaInstituto de Ciências Biológicas (ICB)Universidade Federal de Minas Gerais (UFMG)Av.Antonio Carlos6627Belo HorizonteMinas Gerais 30150-281Brazil departamento de pediatria Faculdade de MedicinaUFMGAv.Alfredo Balena 190Belo HorizonteMinas Gerais 30150-281Brazil departamento de Anatomia Patológica Faculdade de MedicinaUFMGAv.Alfredo Balena 190Belo HorizonteMinas Gerais 30150-281Brazil Laboratório de Imunofarmacologia Departamento de Bioquímica e ImunologiaICBUFMGAv.Antonio Carlos 6627Belo HorizonteMinas Gerais 30150-281Brazil

AIM: to evaluate in bile duct ligated rats whether there were progressive alterations of renal function without changes in histopathology. MEtHODS: Male Wistar rats were submitted to sham-surgery or bile duct ligation (BDL) and divided according to the post-procedure time (2, 4 and 6-wk). to determine renal function parameters, rats wereplaced in metabolic cages and, at the end of the experiment, blood and urine samples were obtained. Histology and hydroxyproline content were analyzed in liver and renal tissue. RESULtS: Rats with 2 wk of BDL increased free water clearance (P = 0.02), reduced urinary osmolality (P = 0.03) and serum creatinine (P = 0.01) in comparison to the sham group. In contrast, rats at 6 wk of BDL showed features of HRS, including signif icant increase in serum creatinine and reductions in creatinine clearance, water excretion and urinary sodium concentration. Rats with 4 wk of BDL exhibited an intermediate stage of renal dysfunction. Progressive hepatic f ibrosis according to post-procedure time was confirmed by histology. the increased levels of liver hydroxyproline contrasted with the absence of structural changes in the kidney, as assessed by histology and unchanged hydroxyproline content in renal tissue. CONCLUSION: Our data show that BDL produced progressive renal dysfunction without structural changes in the kidney, characterizing HRS. the present model will be useful to understand the pathophysiology of HRS.

关键词： Hepatorenal syndrome Bile duct ligation Renal function Renin angiotensin system

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Purification and Biochemical Characterization of Native and Pegylated Form of L-Asparaginase from Aspergillus terreus and Evaluation of Its Antiproliferative Activity

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Advances in Microbiology 2012年第2期2卷 138-145页

作者： Claudio Battiston Loureiro Kleiton Silva Borges Augusto Faria Andrade Luiz Gonzaga tone Suraia Said departamento de Ciencias Farmaceuticas FCFRP-USPRibeirao PretoBrazil departamento de Genetica FMRP-USPRibeirao PretoBrazil departamento de Puericultura e pediatria FMRP-USPRibeirao PretoBrazil

L-asparaginase is a chemotherapeutic drug used in the treatment of lymphoblastic leukemia. In the present study, the extracellular L-asparaginase produced by strain (PC-1.7A) of Aspergillus terreus was purified, characterized, and modified with polyethylene glycol. Moreover, its antiproliferative activity was evaluated. the apparent molecular weight of the enzyme was found to be 136 kDa. the optimal pH and temperature for the enzyme were 9.0℃ and 40℃, respectively. the enzyme retained 100% of the activity at 40℃ for 120 min. Pegylated L-asparaginase was more thermostable and more resistant to trypsin than native enzyme. Native L-asparaginase against human normal cells did not show cytotoxicity. However, in the leukemia cell lines RS4;11 and HL60 the antiproliferative effects of native L-asparaginase were observed after 96 and 72 h of incubation, respectively. For the first time, an L-asparaginase from fungus was evaluated as an antitumor agent in human cells lines and further investigations should be conducted to improve the knowledge about this enzyme.

关键词： Aspergillus terreus L-Asparaginase Antineoplasic Activity Leukemia

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Screening test for Antibiotics in Medicinal Plants(StAMP):Using Powdered Plant Materials Instead of Extracts

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American Journal of Plant Sciences 2013年第12期4卷 2340-2350页

作者： Marielle Cascaes Inácio Fabio Carmona tiago Antunes Paz Maysa Furlan Fernando Arcanjo da Silva Bianca Waléria Bertoni Suzelei de Castro Franca Ana Maria Soares Pereira departamento de Producao Vegetal Faculdade de Ciências AgronomicasUniversidade Estadual Paulista“Júlio de Mesquita Filho”BotucatuBrasil departamento de Puericultura e pediatria Faculdade de Medicina de Ribeirao PretoUniversidade de Sao PauloRibeirao PretoBrasil departamento de Química Orgânica Instituto de QuímicaUniversidade Estadual Paulista“Júlio de Mesquita Filho”AraraquaraBrasil unidade de Biotecnologia Universidade de Ribeirao PretoRibeirão PretoBrasil

Plants are a rich source of antibiotics, but screening all the existing plant species for biological activity using current methods can be time and resource consuming. the present study is to investigate whether powdered plant materials would perform as well as plant extracts in the screening of plants with antimicrobial activity. In the new method proposed (StAMP), we compared in vitro antimicrobial activity of powdered plant materials from 12 species against bacteria and fungi. We confirmed these results with their corresponding aqueous (wet) and hydro-alcoholic extracts and one species testing the antimicrobial activity of two isolated compounds. Compared with hydro-alcoholic extracts, screening using the powdered plant materials correctly identified the majority of the species with antimicrobial activity against Candida albicans (sensitivity 91%, specificity 86%), C. parapsilosis (sensitivity 100%, specificity 67%), and Staphylococcus aureus (sensitivity 64%, specificity 86%). For bacteria, the method performed better in a pH of 9.0. the antimicrobial activity of two compounds isolated from one species (maytenin and netzahualcoyone) confirmed the results. In conclusion, the use of powdered plant materials for screening plants with antimicrobial properties is a cheap, widely available, technically easy, time sparing, reproducible, and sensitive method and can significantly shorten the time and money spent during drug development.

关键词： Herbal Drug Botanical Drug Phytotherapics Natural Products

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Individual factors related to chronic condition in Portuguese adolescents: Highlights from the HBSC/WHO study

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Health 2013年第11期5卷 25-34页

作者： teresa Santos Margarida Gaspar de Matos Maria Celeste Simoes Helena Fonseca Maria do Ceu Machado Faculdade de Motricidade Humana(“Social Adventure”team) Universidade de LisboaLisboaPortugal Centro de Malaria e Doencas tropicais/IHMt Universidade Nova de LisboaLisboaPortugal departamento de pediatria do Hospital de Santa Maria

Background: Adolescence includes a period (10 to 19 years) of profound biopsychosocial changes, constituting potentially difficult challenges, which may become more pronounced in the presence of a chronic condition and its limitations. Responses are not homogeneous and can be quite variable, depending on various specific individual factors. Research comparing adolescents with or without chronic illness, or comparing across different conditions, has been contradictory, not confirming a direct relationship between the degree of suffering and the chronic condition. Objective: to characterize and assess the impact of 1) having a chronic condition (CC) and 2) how CC affects school participation;and its association with life satisfaction and perception of wellness, controlling for demographic factors: age, gender and family socioeconomic status (SES). Methods: 5050 Portuguese adolescents with an average age of 14 years participated in the Health Behaviour in School-aged Children/WHO (HBSC). Results: the majority of the adolescents with CC reported that their conditions did not affect school participation. Adolescents with CC who indicated that CC affected school participation felt more frequently unwell and presented lower life satisfaction. Being a boy, younger and having high family socio economic status (SES) were identified as predictors of higher life satisfaction;on the other hand, being a girl, older, having lower SES, living with CC and feeling that CC affects school participation are predictors for feeling more frequently unwell. Conclusions: these adolescents showed an increased vulnerability, presenting internalized symptoms and lower life satisfaction. Furthermore, when there was simultaneous occurrence of living with CC and that CC affected school participation, the impact was even higher. thus, it is crucial that future interventions should include the identified predictors, combined with “listen to the voice” of adolescents, throughout the adaptation proces

关键词： Adolescent Health Chronic Condition Health Promotion and Prevention Quality of Life

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Occult hepatitis B virus co-infection in human immunodeficiency virus-positive patients: A review of prevalence, diagnosis and clinical significance

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World Journal of Hepatology 2015年第2期7卷 253-260页

作者： Angelica Maldonado-Rodriguez Ana Maria Cevallos Othon Rojas-Montes Karina Enriquez-Navarro Ma teresa Alvarez-Mu?oz Rosalia Lira Unidad de Investigacion Medica en Enfermedades Infecciosas y Parasitarias Hospital de Pediatria Centro Medico Nacional Siglo XXI Instituto Mexicano del Seguro Social departamento de Biologia Molecular y Biotecnologia Instituto de Investigaciones Biomedicas Universidad Nacional Autonoma de Mexico

the prevalence of human immunodeficiency virus(HIV) and hepatitis B virus(HBV) co-infection is high as they share similar mechanisms of transmission. the development and widespread use of highly sensitive tests for HBV diagnosis has demonstrated that a significant proportion of apparently healthy individuals with evidence of exposure to HBV continue to carry fully functional HBV DNA in their hepatocytes, a situation that predisposes them to the development of progressive liver disease and hepatocellular carcinoma. the presence of co-infections frequently influences the natural evolution of each of the participating infections present by either facilitating their virulence or competing for resources. Furthermore, the drugs used to treat these infections may also contribute to changes in the natural course of these infections, making the analysis of the impact of co-infection more difficult. the majority of studies has examined the impact of HIV on overt chronic hepatitis B, finding that co-infection carries an increased risk of progressive liver disease and the development of hepatocellular carcinoma. Although the effect of HIV on the natural history of occult hepatitis B infection(OBI) has not been fully assessed, all available data suggest a persisting risk of repeated flares of hepatitis and progressive liver disease. We describe studies regarding the diagnosis, prevalence and clinical significance of OBI in HIVpositive patients in this short review. Discrepancies in worldwide prevalence show the urgent need for the standardization of diagnostic criteria, as established by the taormina statements. Ideally, standardized protocols for testing should be employed to enable the comparison of data from different groups. Additional studies are needed to define the differences in risk for OBI without HIV and in HIV-HBV co-infected patients with or without overt disease.

关键词： Hepatitis B virus Occult hepatitis B virus infection Hepatitis C virus Egypt Blood donors Hemodialysis Hepatitis B virus reactivation

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