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Crohn's d.sease and.clinical management tod.y:How it d.es?

World.Journal of Method.logy 2023年第5期13卷 399-413页

作者： Ronald. Teixeira d. Silva Júnior Jonathan Santos Apolonio Jessica Oliveira d. Souza Nascimento Bruna Teixeira d. Costa Luciano Hasimoto Malheiro Marcel Silva Luz Lorena Sousa d. Carvalho cleiton d. silvasantos Fabrício Freire d. Melo Instituto Multid.sciplinar em Saúd. Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

Crohn’s d.sease(Cd.is an Inflammatory Bowel d.sease and.is characterized.by an immune-med.ated.*** etiology results from the interaction between genetic,enviromental and.microbial *** pathophysiology,it involves high levels of interleukin(IL)-12,IL-17,and.Th1 profile,along with loss of tolerance mechanisms,an increase in pro-inflammatory interleukins,beyond.the possibility to affect any part of the gastrointestinal *** symptoms includ. abd.minal pain,chronic d.arrhea,weight loss,anorexia,and.fatigue,as well as blood.in the stool or ***,cond.tions comprising musculoskeletal,cutaneous,ocular,hepatic,and.hematological alterations may be associated.with this scenario and.extra-intestinal presentation,such as erythema nod.sum,anterior uveitis,osteoporosis,and.arthritis can also ***,clinical history,exams as fecal calprotectin,ileocolonocopy,and.capsule end.scopy can be performed.in the d.agnosis investigation,along with treatments to ind.ce and.maintain *** this sense,anti-inflammatory d.ugs,such as corticosteroid.,immunomod.lators,and.biological agents,as well as surgery and.non-pharmacological interventions plays a role in its *** aim of this review is to bring more current evid.nce to clinical management of Cd.as well as to briefly d.scuss aspects of its pathophysiology,surveillance,and.associated.d.sord.rs.

关键词： Crohn's d.sease Inflammatory bowel d.seases d.agnosis Treatment Immunomod.lation Biological agents

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Cytogenetic Investigation in Patients with Clinical Suspicion of Genetic Synd.ome in Manaus, Brazil

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

作者： d.bora Pinto d.nise Corrêa Benzaquem Rachel Card.so Nunes Vânia Mesquita Gad.lha Prazeres cleiton Fantin Hospital Universitário Getúlio Vargas ManausAmazonas 69020-170Brasil Human Genetics Laboratory State University of AmazonasManausAmazonas 69065-001Brazil Fed.ral University of Amazonas.Manaus Amazonas 69067-005Brazil

Chromosomal alterations can cause a number of d.seases;therefore,early d.tection of these alterations is fund.mental in the prevention and.treatment of various *** this sense,the objective of this stud. was to perform cytogenetic analysis of patients with phenotypic characteristics not yet clarified.in ord.r to d.termine 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 synd.ome were referred.to the public health system in Manaus,Amazonas *** analyses were performed.from lymphocyte culture and.subsequent *** d.ta 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%)correspond.d.to alterations of the numerical type and.7(38.9%)of the structural *** the chromosomal alterations id.ntified.the one with the highest frequency was aneuploid.,which was significantly represented.by 9 patients with d.wn’s synd.ome,and.d.fferent karyotypic mechanisms related.to this synd.ome were *** was also one case of d.letion,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 ord.r to increase the rate of d.agnosis.

关键词： Karyotype chromosomes band.ng karyotypic formula d.wn’s synd.ome

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