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

Alzheimer disease(AD)is a complex neurodegenerative pathology that is characterized by a cognitive decline.Its causes and mechanisms are still largely unknown.It has been suggested that both genetic and life exposure factors can contribute to AD development.There are also evidences that chromosomal alterations can be related to this disease.So far,there is not a precise diagnosis for AD,which is given only after the exclusion of other dementia by clinical and neurological examination.The possible association of AD with chromosomal alterations and the easy access of classical cytogenetics analysis are important aspects to consider,given the difficulties in diagnosis.Due 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,Brazil.Peripheral blood lymphocytes of twelve patients and twelve healthy individuals with the same age were analyzed using conventional karyotyping.All AD patients presented cells with autosomal aneuploidy,while no chromosomal alterations were found in the age-matched controls.Also,rare events of double and multiple aneuploidies are being reported in association with AD for the first time.Our 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 development.However,no chromosomes were preferentially affected in all AD patients,and no consistent karyotype pattern for AD lymphocytes was found.Therefore,our results do not support the use of standard cytogenetics as a tool for AD diagnosis.Future studies are necessary to understand better the association between chromosomal alterations and AD.

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

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 unknown.The 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.The 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 malformations.There 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 g.The 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.

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

Chromosomal alterations can cause a number of diseases;therefore,early detection of these alterations is fundamental in the prevention and treatment of various abnormalities.In 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 state.Genetic analyses were performed from lymphocyte culture and subsequent G-banding.Patient data were obtained through referral files and chromosomal a Analyses.Of the 98 karyotypes analyzed,65(66.3%)presented normal karyotype,18(18.4%)presented chromosomal alterations and 15(15.3%)were inconclusive.Of the alterations found,11(61.1%)corresponded to alterations of the numerical type and 7(38.9%)of the structural type.Of 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 observed.There was also one case of deletion,one case of pericentric inversion,and two involving the sex chromosomes.The 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.