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Cytogenetic Investigation in Patients with Clinical Suspicion of Genetic Syndrome in Manaus, Brazil

Journal of Pharmacy and Pharmacology 2022年第3期10卷 72-78页

作者： Débora Pinto Denise Corrêa Benzaquem Rachel Cardoso Nunes Vânia Mesquita Gadelha Prazeres Cleiton Fantin hospital Universitário Getúlio Vargas ManausAmazonas 69020-170Brasil Human Genetics Laboratory State University of AmazonasManausAmazonas 69065-001Brazil Federal University of amazonas.Manaus Amazonas 69067-005Brazil

Chromosomal alterations can cause a number of diseases;therefore,early detection of these alterations is fundamental in the prevention and treatment of various *** this sense,the objective of this study was to perform cytogenetic analysis of patients with phenotypic characteristics not yet clarified in order to determine the frequency of chromosomal alterations in patients treated in the public health system in Manaus,Brazil.A total of 98 patients with clinical suspicion of genetic syndrome were referred to the public health system in Manaus,amazonas *** analyses were performed from lymphocyte culture and subsequent *** data were obtained through referral files and chromosomal a *** the 98 karyotypes analyzed,65(66.3%)presented normal karyotype,18(18.4%)presented chromosomal alterations and 15(15.3%)were *** the alterations found,11(61.1%)corresponded to alterations of the numerical type and 7(38.9%)of the structural *** the chromosomal alterations identified,the one with the highest frequency was aneuploidy,which was significantly represented by 9 patients with down’s syndrome,and different karyotypic mechanisms related to this syndrome were *** was also one case of deletion,one case of pericentric inversion,and two involving the sex *** etiological confirmation of congenital anomalies is extremely important for the patient’s prognosis,and it is necessary to invest in cytomolecular tests,such as FISH and microarray in order to increase the rate of diagnosis.

关键词： Karyotype chromosomes banding karyotypic formula down’s syndrome

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Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

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Journal of Pharmacy and Pharmacology 2017年第11期5卷 812-820页

作者： Fantin, C. Prazeres, V. G. M. Benzaquem, D. C. Fernandes, E. R. Q. G. S. Oliveira, D. p. Ribeiro-Lima, J. C. Laboratorio de Proteomica e Genomica Departamento de Genetica Molecular e Citogendtica Escola Superior de Ciencias da Saude Universidade do Estado do Amazonas Manaus 69065-001 Brasil Departamento de Saude Materno Infantil Universidade Federal do Amazonas Manaus 69076-005 Brasil Unidade de Laboratorio de Analises Clinieas Setor de Citogenetiea Hospital Universitario Getulio Vargas Universidade Federal do Amazonas Manaus 69076-005 Brasil

Chromosomal alterations are the main causes of genetic diseases. One of the characteristics of certain genetic syndromes is ID （intellectual disability） presented by the individual in varying degrees. The study of the ID, its etiology, association or not with chromosomal abnormalities and a clinical diagnosis associated with the examination of karyotype are important aspects to consider when providing genetic counseling for families. Due to the lack of similar studies and of easy access to cytogenetic services for the Amazonian population, this study aimed to contribute to the advancement of this line of study in the state, analyzing the karyotype of individuals with ID, not down Syndrome treated at the APAE-Manaus and identifying the main types of chromosomal alterations in the individuals analyzed. Analyzes were performed of the clinical diagnosis through investigation of the data from the interview and medical records as well as analysis of the karyotype of 31 patients with non-down syndrome ID, attended in the APAE-Manaus. Of these subjects, 20 were female and 11 male. The results showed only 2 cases of chromosome abnormalities are detectable by classical cytogenetics, one of mosaic Turner syndrome and one a heterochromatic variant. It is therefore necessary to complement the study with the addition of molecular techniques for the investigation of microdeletions and/or other alterations not detectable through the banding technique, mainly for individuals whose dysmorphisms indicate a suspected syndrome.

关键词： Intellectual disability classical cytogenetics G banding.

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Descriptive Study:Congenital Malformations in Pediatric Patients of a Public Maternity hospital of the City of Manaus,amazonas

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Journal of Pharmacy and Pharmacology 2019年第4期7卷 198-206页

作者： Cleiton Fantin Denise Corrêa Benzaquem Marcelo Lasmar Santos Carlos Augusto da Silva Araújo Júnior Lilian Barroso Carvalho Natanael Martins Gomes Larissa Nascimento Souza Gabriela Bentes Sousa Laboratory of Cytogenetics State University of Amazonas Manaus Amazonas Brazil

The Pan American Health Organization(PAHO)defines congenital malformation as any functional or structural anomaly in the development of the fetus,due to factors originating before birth,whether genetic,environmental or *** aim of the present study was to identify the frequency of malformations,the type of congenital malformations and to correlate this with risk factors in live-born infants,using SLB *** data were collected through consultation of the medical records of live-born infants of the Balbina Mestrinho Maternity hospital,15,621 live births were reported,of which 248(1.58%)presented congenital *** was a higher prevalence of malformations among live-born males(49.7%),with Apgar≥7 at the first and fifth minute,gestational age ranging from 37-41 weeks,with 46%being born with appropriate weight between 3,000-4,000 *** association of two or more defects was observed in 38.7%of the total cases and isolated anomalies in 67.3%,with predominance of alterations of the digestive system(26.3%),followed by malformations of the musculoskeletal system(21.2%),nervous system(20.2%)and cleft lip/cleft palate(9.1%).The results presented here may guide strategic actions to improve care for families of people with congenital malformations.

关键词： Congenital abnormalities epidemiological inquiry prevalence newborn

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Isolated Autoimmune Orchitis Due to IgG4 Hypersecretion Presenting as Tumor-Like Mass: Case Report and Review of Literature

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Open Journal of Urology 2022年第1期12卷 51-56页

作者： Francisco Marcos da Silva Barroso Flavio Antunes de Sousa Paloma Menezes de Souza Gustavo Lopes de Castro Katia Ramos Moreira Leite Monique Freire Santana Roger Arthur da Cunha Alves Gabriela Ayumi Owada Borges Juan Eduardo Rios Rodriguez Urology Service Getúlio Vargas University Hospital (HUGV) Manaus Amazonas Brazil General Surgery Service Santa Casa de Ribeir&#227 o Preto Ribeir&#227 o Preto Brazil Sã o Paulo University (USP) Ribeir&#227 o Preto Brazil Faculty of Medicine Federal University of Amazonas (UFAM) Manaus Amazonas Brazil Pathology Department Sírio-Libanes Hospital S&#227 o Paulo Brazil Faculty of Medicine S&#227 o Paulo University (USP) S&#227 o Paulo Brazil Patholgy Service Getúlio Vargas University Hospital (HUGV) Manaus Amazonas Brazil Dr. Heitor Vieira dourado Tropical Medicine Foundation Manaus Amazonas Brazil Teaching and Research Department Oncology Center Control Foundation (FCECON) Manaus Amazonas Brazil Urology Service Hospital Pronto-Socorro 28 de Agosto Manaus Amazonas Brazil General Surgery Service Getúlio Vargas University Hospital (HUGV) Manaus Amazonas Brazil

Background: IgG4-related disease is a rare autoimmune condition that presents with lymphoplasmacytic infiltrate and fibrosis in the organ affected. Isolated testicle involvement is uncommon and there are only a few cases reported in the literature. Case Presentation: We report a case of isolated chronic orchitis due to IgG4 hypersecretion in a 61-year-old patient that evolved with asymptomatic tumor-like mass growth and was treated with left orchiectomy. Histopathological study revealed orchitis related to IgG4 hypersecretion disease. Conclusion: IgG4-related disease can be manifested as a multi or single-organ disorder. Most diagnoses are made after surgery with histopathological analysis. Most of the cases in literature stand out the difficulty in diagnosis and necessity of high suspicion due to this condition’s similarity with neoplasm presentation.

关键词： Orchitis IgG4-Related Disease Autoimmune Testicle Inflammatory

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Evaluation of Pulmonary Function in Adults with Grade Ⅲ Obesity

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Health 2017年第6期9卷 942-950页

作者： Cássio Daniel Araújo da Silva Fernanda Figueiroa Sanchez Jonas Silva de Souza Jamilly Reboucas Demosthenes Marques Ana Fátima de Freitas Ellen Kathellen Sa de Souza Roberta Lins Goncalves Federal University of amazonas—UFAM ManausBrazil Adriano Jorge hospital Foundation—FHAJ ManausBrazil

Pulmonary function studies in obese individuals have alerted the pathophysiological changes due to weight gain. However, these changes are not fully explained yet. Objective: To evaluate and analyze the pulmonary function of obese adults in the city of Manaus (AM, Brazil) and to correlate the parameters of spirometry with weight and BMI. Method: A descriptive cross-sectional study, in which pulmonary function of 22 adults with grade III obesity was evaluated pre and post bronchodilator administration, performed at the Adriano Jorge hospital Foundation—FHAJ. Results: Of the 22 patients evaluated, 6 were male and 16 were female;mean age was 37.1 ± 7.4 years, with a weight of 134.2 ± 28.6 kg and a BMI of 51.1 ± 9.4 kg/m2, corresponding to grade III obesity. Spirometry showed a reduction in values obtained from Forced Vital Capacity (FVC), Forced Expiratory Volume in the first second (FEV1) and Peak Expiratory Flow (PEF) in relation to those predicted, with 23% of restrictive disorders. There were negative correlations between BMI and PEF, weight and FVC, weight and PEF. The P value for correlation of weight and FEV1 is not statistically significant. Conclusion: Restrictive and obstructive disorders are prevalent in the population with grade III obesity. Correlations between pulmonary function and BMI/weight were negative for this specific population.

关键词： Respiratory Muscles Spirometry Obesity Evaluation

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Resolutive Results with Oral Corticosteroids for Patients with COVID-19 in Pulmonary Inflammatory Phase. Successful Outpatient Experience during the Collapse of Belem do Para Health System—Brazil

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Health 2021年第8期13卷 830-838页

作者： Roberto S. Zeballos Luciana N. L. Cruz Vânia C. R. Brilhante Adriana V. Lima Carlliane L. L. P. Martins Karla N. A. Lima Michele C. G. L. Leão Belinete L. Cruz Alessandra B. Dysarz Paulo C. B. Lobato Erika S. Almeida Rute A. P. Costa Klevison C. Araújo Augusto C. C. Almeida Leônidas B. D. Junior Kathia O. Harada Rita H. V. S. Araújo Elaine X. Prestes Ivete M. S. Souza Avany M. P. Pereira Antônio B. M. A. Rocha Iracema A. Estevão Fagnei I. C. Carvalho Paulo M. P. Melo Clinical Care Sao Paulo Brazil Instituto de Ciencias da Saude Faculdade de Medicina Universidade Federal do Para Belem Brazil Fundacao Publica Estadual hospital de Clinicas Gaspar Vianna Belem Brazil hospital da Policia Militar do Para Belem Brazil Imunoclinic Belem Brazil Universidade Estadual do Para Fundacao Santa Casa de Misericordia do Para Belem Brazil Clinica Barros Cirurgia Plastica Belem Brazil Secretaria de Estado de Saude Publica Castanhal Brazil Centro de Tratamento Oncologico Belem Brazil Sociedade Brasileira de Valorizaç ã o das Sociedades Medicas—SOBEMED S&#227 o Paulo Brazil Clinica de Nutrologia Sao Luiz Brazil hospital Nipo Brasileiro de Olhos Belem Brazil Centro de Ciencias Biologicas e da Saude Universidade do Estado do Para Belem Brazil hospital regional do baixo amazonas Santarem Brazil Clinica Vallinoto Secretaria de Saude de Barcarena Barcarena Brazil Estrategia Saude da Familia Secretaria Municipal de Saude de Ananindeua Centro Universitario do Estado do Para Belem Brazil A. M. P. Endocrinologia Belem Brazil Instituto Avertano Rocha Belem Brazil Departamento de Neurocirurgia Hospital Militar de Area De Sao Paulo Sao Paulo Brazil

In the face of new diseases, medicine needs to reinvent itself in order to contain and control epidemics, such as the one we have recently faced, COVID-19, a disease with a wide spectrum of clinical severity. A new moment has been established, since the application of well-known, effective and safe medications for other diseases, has shown high success rates in the treatment of COVID-19. Thereunto, studies with early intervention are needed, which can change the unfavorable outcome of patients. In this article, we report the successful experience using an oral strategy during the collapse of Belem (Para, Brazil) Health System. Two hundred and ten patients were diagnosed with respiratory failure due to COVID-19, with no option of hospital treatment due to lack of beds and resources. These patients were then started on therapeutic regimen consisting of 40 mg prednisolone, 40 mg enoxaparin and macrolides (500 mg clarithromycin, 500 mg axetylcefuroxime) associated and followed in outpatient facilities. Two hundred and eight patients had an excellent therapeutic response and there were only two fatalities. These results push research boundaries, valuing outpatient treatment with early use of prednisolone in the initial pulmonary phase, preventing severe COVID-19 pneumonitis. Adoption of the proposed treatment intends to reduce the need for hospitalization, as well as lethality, with social robust benefits and incalculable economic savings since involves the use of accessible, safe and not expensive medications.

关键词： COVID-19 Corticosteroids Pulmonary Inflammatory Phase Collapse Brazil

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Health Education for Chronic Obstructive Pulmonary Disease (COPD): Observational Study

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Open Journal of Therapy and Rehabilitation 2020年第3期8卷 60-71页

作者： Leigiane Alves Cardoso Roberta Lins Gonçalves Fernanda Figuerôa Sanches Maria do Socorro Lucena Cardoso Wilson de Souza Nogueira Edson de Oliveira Andrade Erik Coelho da Costa Denilsi Gomes Gonçalves Jaqueline de Sousa Veras Barbosa Lucas Normando da Silva Elvis Geanderson Lima do Vale Postgraduate Program in Communication Sciences (PPGCCOM-UFAM) Manaus Brazil The Federal University of amazonas (UFAM) Manaus Brazil Neonatal Intensive Care The Federal University of Amazonas (UFAM) Manaus Brazil The Strictu Sensu Postgraduate Program in Health Sciences (PPGCIS-UFAM) Manaus Brazil Graduating in Physical Education The Federal University of Amazonas (UFAM) Manaus Brazil

Health Education has shown itself as essential for the understanding of individuals about psychological and physical changes caused by diseases. The chronic obstructive pulmonary disease (COPD) is a severe public health problem, and it depends on health education measures for its control. A group of patients with COPD, in pneumatological medical treatment, were investigated to find information about the disease. An observational, descriptive and analytical study with analysis and application of a semistructured questionnaire to evaluate the individuals’ knowledge about the COPD. Collected data were registered and analyzed using Google Docs. The software used for the calculation of statistical measures was Microsoft Excel®. For the research participants’ characterization analysis, the use of grouped data for the frequency distribution of Sturges Rule was necessary. This study provided knowledge about which information a group of bearers of COPD receives at a college hospital providing treatment. The interviewed have an average age of 70 years old and most are women with education level between elementary and high school and diagnose time of 6.8

关键词： COPD Health Education Pulmonary Rehabilitation Communicational Ecosystems

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Chromosomal Alterations in Patients with Alzheimer Disease in Manaus,amazonas,Brazil

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Journal of Pharmacy and Pharmacology 2019年第8期7卷 451-458页

作者： Cleiton Fantin Kledson Moraes Nunes Ernanda Raquel de Queirós Goncalves de Sousa e Fernandes Diana Vieira Brito Natalia Dayane Moura Carvalho Denise Corrêa Benzaquem Laboratório de Citogenética Escola Superior de Ciências da SaúdeUniversidade do Estado do AmazonasManausAmazonas 69065-001Brazil Laboratório de Análises Clínicas do hospital Universitário Getúlio Vargas–HUGV ManausAmazonas 69020-170Brasil Secretaria Municipal de Saúde SEMSAManausAmazonas 69057-000Brasil

Alzheimer disease(AD)is a complex neurodegenerative pathology that is characterized by a cognitive *** causes and mechanisms are still largely *** has been suggested that both genetic and life exposure factors can contribute to AD *** are also evidences that chromosomal alterations can be related to this *** far,there is not a precise diagnosis for AD,which is given only after the exclusion of other dementia by clinical and neurological *** possible association of AD with chromosomal alterations and the easy access of classical cytogenetics analysis are important aspects to consider,given the difficulties in *** to the lack of similar studies in Brazil and the increasing number of AD cases in the state of amazonas,the aim of this study was to investigate the presence of chromosomal alterations in patients diagnosed with AD in Manaus,amazonas,*** blood lymphocytes of twelve patients and twelve healthy individuals with the same age were analyzed using conventional *** AD patients presented cells with autosomal aneuploidy,while no chromosomal alterations were found in the age-matched ***,rare events of double and multiple aneuploidies are being reported in association with AD for the first *** results corroborate that the increase in the frequencies of aneuploidies is not related to the aging process itself,but it might be associated to the disease ***,no chromosomes were preferentially affected in all AD patients,and no consistent karyotype pattern for AD lymphocytes was ***,our results do not support the use of standard cytogenetics as a tool for AD *** studies are necessary to understand better the association between chromosomal alterations and AD.

关键词： AD karyotyping numeric chromosomal alterations double aneuploidies multiple aneuploidies

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