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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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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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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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Diagnosis of Hypophosphatasia

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Journal of Pharmacy and Pharmacology 2018年第7期6卷 688-691页

作者： Cleiton Fantin denise correa benzaquem Vania Mesquita Gadelha Prazeres Laboratório de Citogenética Universidade do Estado do Amazonas Manaus 69065-001 Brasil Departamento de Saúde Materno Infantil Universidade Federal do Amazonas Manaus 69076-005 Brasil

Objective： HPP （Hypophosphatasia） is a congenital disease characterized by a deficiency of tissue-specific ALP （alkaline phosphatase）, which causes the generation of abnormal bone and tooth tissue. The clinical manifestations are variable, from neonatal forms with high mortality to milder adult forms with fractures and osteomalacia. The present study reports a clinical case of HPP, with emphasis on the physical characteristics and laboratory tests. The patient was attended at the medical genetics outpatient clinic of the Association of Parents and Friends of the Exceptional of Manaus （Associa？？o de Pais e Amigos dos Excepcionais-APAE/Manaus）. Methodology： For the case report, anamnesis, peripheral blood G-band karyotyping, Vitamin and ALP dosage and resonance examination were performed. Results： A.M.M.S, 9 years, non-consanguineous parents, no bone disease in the family, with one sister from the mother. Birth weight AGA without intercurrence. The patient presented a slight delay in psycho-motor development and was diagnosed with craniostenosis through CNS imaging examination. The physical examination, in addition to a short stature, showed dolichocephaly, frontal bossing, curved tibias and great dental compromise with many early cavities and loss of teeth. Laboratory evaluation： ALP dosage： 63/L （N = 69-325）; Vitamin B6 dosage： 27.4 （5.2-34.1）. The mother and the younger sister also had an ALP result below that expected for the age. Conclusions： The clinical phenotype and laboratory diagnosis of the patient were compatible with ICD Q78 HPP.

关键词： HPP ALP child

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Profile of Patients Attended at the Genetic Service of a Special Care Institution in Brazil

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Journal of Pharmacy and Pharmacology 2017年第10期5卷 727-735页

作者： Cleiton Fantin denise C. benzaquem Julia Cavalcante do Carmo Vania Mesquita Gadelha Prazeres Laboratorio de Citogendtica Universidade do Estado do Amazonas Manaus 69065-001 Brazil Departamento de Saude Materno lnfantil Universidade Federal do Amazonas Manaus 69076-005 Brazil

Objective： To analyze the main etiological diagnoses of patients attended at a genetics outpatient clinic of the Association of Parents and Friends of Exceptional Children/APAE in the state of Amazonas, Brazil. Methods： retrospective study of patients seen in the period 2005-2016, with review of medical records. The following data were recorded： sex, origin of referral and etiological diagnosis. Results： 362 patients were attended, 94.7% of them from Manaus, and 5.3% from the interior of the state. The etiological diagnosis was defined in 262 （72.3%） of the sample, of which 254 （70.2%） were of genetic etiology and 8 （2.2%） non-genetic. Of the genetic etiologies, 46 （12.7%） cases were monogenic syndromes, 136 （37.6%） were chromosomal aberrations and 72 （19.9%） had multifactorial causes, however, 100 （27.6%） cases remained unclear. There were several syndromes found, with Down syndrome being the most frequent and correlating significantly with the sex of the patient （male predominance, p 〈 0.05）. Conclusions： The study carried out in the APAE/Manaus genetics outpatient clinic allowed the profile of the patients being attended to be traced. It was verified that the majority of the patients were male and that the diagnosis of chromosomal alterations was the most frequent.

关键词： Medical genetics genetic counseling genetic profile etiology.

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