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.
22q11.2 deletion syndrome is caused by a deletion in chromosome 22q11.2 and has more than 180 distinct phenotypes; however, no finding is pathognomonic or even mandatory. This syndrome can be diagnosed by fluorescence in situ hybridization. Thus, we report herein a patient from Manaus, Brazil, who has congenital heart disease and facial dimorphism with the presence of 22q11.2 deletion in the N25 region. Male patient, a 1-year-old son of non-consanguineous parents and without a family history of genetic disease. The patient was hospitalized in the cardiac intensive care unit of the Francisca Mendes University Hospital for surgery. The patient was diagnosed with interventricular communication, low atrial implantation, hypertelorism, and macroglossia. The FISH result revealed the presence of a proximal deletion in the N25 region (22q11.2) in only one of the pairs in chromosome 22. This finding revealed a diagnosis of 22q11.2 deletion syndrome, in other words, a hemizygotes deletion with haploinsufficiency of the CLTCL1 gene in this region. However, it is valid to say that the CLTCL1 gene is related to the clinical picture of the patient reported in this study. Cytogenetic analysis was essential for the etiological diagnosis and revealed 22q11.2 deletion in the N25 region, which resulted in 22q11.2 deletion syndrome. The importance of diagnosing this syndrome lies in the best therapeutic conduct, thus allowing a better quality of life for the patient and adequate genetic counseling. Other cytogenetic studies are essential in order to elucidate the size of the deletion and low copy repeats involved in this deletion.
Abstract: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.
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.
There are few studies on the frequency of congenital anomalies in Brazil, particularly in the state of Amazonas. Therefore, the aim of this study was to investigate the number of live births with congenital anomalies in Amazonas, in the period 2008-2017, based on the Live Birth Information System (SINASC), as well as to discuss the relevance of the professionals being trained for the correct completion of the notice of live birth. In the study period, of the 773,313 live births in Amazonas, 4,593 were diagnosed with some type of congenital anomaly, according to DATASUS. This corresponds to a prevalence of 5.9 cases per 1,000 live births. The most frequent cases were congenital deformities of the musculoskeletal system, with 23% of the reports, congenital deformity of the feet, with 16%, and other congenital malformations, with 15% of the registrations. The need for investments in the training and qualification of professionals was observed, so that they can act, in a qualified way, in the cycle of diagnosis, registration and support for families, since they have not been trained to deal with this new reality. The importance is emphasized of continuing the research in the field of genetic diseases in Amazonas, in order to assist the individuals and families affected, as well as supporting the decisions related to the planning and implementation of public policies directed toward the issue.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
334 Leonard St
Brooklyn, NY 11211
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.