The structure of first-cousin marriages in Brazil

Otto, Paulo Alberto; Lemes, Renan Barbosa; Farias, Allysson Allan de; Weller, Mathias; Lima, Shirley O. A.; Albino, Victor Alves; Marques-Alves, Yanna K.; Pardono, Eliete; Bocangel, Magnolia A. P.; Santos, Silvana

doi:10.1038/s41598-020-72366-z

Cited by 6 publications

(4 citation statements)

References 29 publications

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“…This was a quantitative cross-sectional study conducted with oldest-old aged 80 and over from two different cities in socioeconomic, demographic, and cultural terms: São Paulo (SABE-SP), one of the largest urban centers in Latin America and, Brejo dos Santos (SABE-PB), a city located in the Northeast hinterland, where several previous studies have been conducted regarding the quality of data collected by health workers 25 , consanguinity and genetic diseases [26][27][28] . All information was collected in the senior's homes through the Health, Well-being and Aging (Saúde, Bem-estar e Envelhecimento -SABE) survey questionnaire 29,30 which was administered by trained interviewers.…”

Section: Study Design Settings and Participantsmentioning

confidence: 99%

Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil

Freitas

Silva

Nóbrega

et al. 2022

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Purpose The aim of this research was to investigate the extent to which socioeconomic and regional differences in Brazil may influence the quality of life. To this end, we examined factors associated with health-related quality of life in two populations of oldest-old people, aged 80 and over: one from the Northeast of Brazil and the other from the Southeast. Methods 417 participants aged 80 and over were interviewed face-to-face, 179 from Brejo dos Santos, one of the poorest regions in the Northeast; and 238 from São Paulo, one of the largest urban metropolises in Southeast Brazil. Data, which included socioeconomic and demographic factors, health status, and health-related quality of life, were collected using a structured questionnaire. The dependent variable was determined by the completion rate of the 12-item Short Form Survey and analyzed using multiple logistic regression. Results Although the population of São Paulo had four times as many long-lived women than men, had better literacy levels, used more medications, and presented a greater prevalence of symptoms suggestive of depression in comparison to the Northeast’s population, no difference was observed in the proportion of good physical components among the two populations, 54.3% in Brejo dos Santos’ oldest-old and 50.4% in São Paulo’s ( P = .6272). Quality and quantity of sleep were factors that most affected the health-related quality of life among the oldest-old of Northeast. Conclusion Factors associated with health-related quality of life were different among the oldest-old people of the two locations, thereby corroborating the heterogeneous nature of the longevous population.

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Section: Study Design Settings and Participantsmentioning

confidence: 99%

Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil

Freitas

Silva

Nóbrega

et al. 2022

INQUIRY

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“…Among them 30% were first cousins, 4% were double second cousins, 13% had other consanguinity degrees, and 52% did not specify the precise relation. Consanguinity associated with patients can be explained, in part, by cultural factors associated with the Northeast and Northern regions of the country, since they have the highest rates of consanguineous marriages in Brazil (Otto et al, 2020; Santos et al, 2010).…”

Section: Resultsmentioning

confidence: 99%

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network

Montenegro

Souza

Kubaski

et al. 2021

American J of Med Genetics Pt A

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Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N‐acetyl‐alpha‐d‐glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan sulfate and a series of clinical consequences which hallmark is neurodegeneration. In this study clinical, epidemiological, and biochemical data were obtained from MPS IIIB patients diagnosed from 2004–2019 by the MPS Brazil Network (“Rede MPS Brasil”), which was created with the goal to provide an easily accessible and comprehensive investigation of all MPS types. One hundred and ten MPS IIIB patients were diagnosed during this period. Mean age at diagnosis was 10.9 years. Patients were from all over Brazil, with a few from abroad, with a possible cluster of MPS IIIB identified in Ecuador. All patients had increased urinary levels of glycosaminoglycans and low NAGLU activity in blood. Main clinical symptoms reported at diagnosis were coarse facies and neurocognitive regression. The most common variant was p.Leu496Pro (30% of alleles). MPS IIIB seems to be relatively frequent in Brazil, but patients are diagnosed later than in other countries, and reasons for that probably include the limited awareness about the disease by health professionals and the difficulties to access diagnostic tests, factors that the MPS Brazil Network is trying to mitigate.

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“…It might be due to the discrepancy in SMA reports and/or assistance available across the country's different regions. The consanguinity marriages that commonly happen in these areas, especially in the northeast (Otto et al, 2020), could also contribute to this heterogeneous distribution of SMA cases. Furthermore, this could reflect the disease awareness, due to the distribution of healthcare teams more acquainted with neuromuscular disorders in some locations, or the positive impact of non-governmental organizations.…”

Section: Discussionmentioning

confidence: 99%

Healthcare resource utilization of spinal muscular atrophy in the Brazilian Unified Health System: a retrospective database study

Barbour¹,

Brazil²,

Araújo³

et al. 2021

JBES

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Objective: To describe the healthcare resource utilization (HCRU) related to patients with spinal muscular atrophy (SMA) treated at the Brazilian Unified Health System (SUS) since 2015 according to age-groups. Methods: This study analyzed outpatient and inpatient data for SMA patients from the Brazilian Unified Health System database (DATASUS) from January 2015 to September 2020. Data were collected from patients with ICD-10 codes G12.0 (Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]) or G12.1 (Other inherited spinal muscular atrophy), plus with at least one claim of nusinersen OR at least one claim of any SMA-related procedure groups codes since 2010. SMA-related procedures were defined based on collaborative work involving authors from medical boarding composed by physicians from SUS. Results: In total, 3,775 patients with SMA fulfilled the eligibility criteria. Physiotherapy changed from 11.34 (2.49 – 24.40) procedures PPPY in the 0 - 6-month old group to 3.30 (0.84 – 11.76) procedures PPPY in the > 36-month old group. The median of orthosis was 1.64 (0.66 – 3.41) procedures PPPY in the 0 – 6-month old group and 0.63 (0.34 – 1.33) PPPY in the > 36-month-old group. Exams were primarily performed for younger groups (0 – 6 months and > 6 – 18 months). The percentage of patients that needed some ventilatory care seems greater, and the speech therapy and the use of nusinersen seem lower along with age. Conclusion: This study has demonstrated important HCRU at the SUS setting with SMA patients. In addition, our results highlight the need to implement evidence-based strategies to manage SMA patients and drive cost savings for the health care system

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The structure of first-cousin marriages in Brazil

Cited by 6 publications

References 29 publications

Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil

Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network

Healthcare resource utilization of spinal muscular atrophy in the Brazilian Unified Health System: a retrospective database study

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