The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).

Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS). The main objective in this work was to evaluate the clinical, molecular, and geographic profile of MPS in a population from Ceará (Northeast Brazil). For this, we have performed a descriptive cross-sectional study based on clinical evaluation, interviews with patients and/or family members, and review of medical records of 76 MPS patients.

Disease progression in Sanfilippo type B: Case series of Brazilian patients.

Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression.

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge.

Oculocutaneous albinism (OCA) is a heterogeneous group of genetic disorders involving deficiencies in melanin biosynthesis, with consequent skin, hair, and eye hypopigmentation. The world prevalence is estimated at 1/17,000, but there is high variability among populations. The affected individuals, besides clinical complications, can suffer from discrimination.

Clusters of rare disorders and congenital anomalies in South America.

Objective: To map geographic clusters of rare disorders and congenital anomalies reported in South America.

Methods: Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic databases to identify studies meeting eligibility criteria. The strategy resulted in 1 672 unique articles, from which 164 were selected for full reading by a pair of reviewers.

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

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.

National congenital anomaly registers in the world: historical and operational aspects.

Objective: To identify registers of congenital anomalies with national coverage currently available around the world, highlighting their main historical and operational characteristics.

Methods: This was a documentary study by means of a Medline database search (via PubMed) and searches involving reports, official documents and websites. Studies reporting at least one national registry were included.

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical heterogeneity and a complex genotype-phenotype correlation. We evaluated data from 501 Brazilian patients diagnosed with MPS II from 1982 to 2020.

List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System.

Objective: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc).

Methods: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society.

Prevalence of congenital anomalies at birth among live births in the state of Maranhão from 2001 to 2016: temporal and spatial analysis.

Objectives: To analyze the prevalence at birth and the spatial and temporal distribution of congenital anomalies (CAs) among live births in the state of Maranhão in 2001 to 2016. To describe demographic, gestational and neonatal variables of interest.

Methods: Ecological, population-based study, using secondary data from the Live Birth Information System (SINASC).

Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10.

Objective: To propose a list of congenital anomalies having corresponding codes in the International Statistical Classification of Diseases and Related Health Problems, 10thRevision (ICD-10), with the aim of applying it in health surveillance.

Methods: In December 2019, the following data sources were searched: ICD-10; ICD-11; anomalies monitored by three surveillance programs; and a database of rare diseases (Orphanet). Anomalies were retrieved from these data sources, processed to check for correspondence with ICD-10 and reviewed manually to compile the list.

COVID-19 in Brazil: evolution of the epidemic up until epidemiological week 20 of 2020.

Objective to describe the evolution of COVID-19 in Brazil up until epidemiological week 20 of 2020. Methods this is an ecological study based on data and official documents from the Brazilian Ministry of Health and international organizations; comparisons were made between Brazil and other countries and incidence and mortality rates were calculated. Results by the end of epidemiological week 20, 233,142 cases, and 15,633 deaths had been confirmed for Brazil as a whole and 3,240 (58.

International collaboration networks for the surveillance of congenital anomalies: a narrative review.

Objective to identify international congenital anomaly surveillance collaboration networks, to list the programs that compose them and to compare their main characteristics. Methods this was a narrative literature review by means of a MEDLINE database search (via PubMed) and searches involving websites, reports and official documents. Results six international congenital anomaly surveillance collaboration networks were identified (ECLAMC, ICBDSR, EUROCAT, BINOCAR, SEAR-NBBD and ReLAMC), comprised of 98 programs present in 58 different countries on all continents, except Africa; the main characteristics regarding type of surveillance, coverage and location were discussed in a comparative manner.

COVID-19 epidemic in Brazil: Where are we at?

Objetive: To analyze the trends of COVID-19 in Brazil in 2020 by Federal Units (FU).

Method: Ecological time-series based on cumulative confirmed cases of COVID-19 from March 11 to May 12. Joinpoint regression models were applied to identify points of inflection in COVID-19 trends, considering the days since the 50 confirmed case as time unit.

Novel Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.

Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in . In this study, we identified a Brazilian patient carrying a likely de novo nonsense mutation (c.

An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast.

Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast territory, socio-demographic heterogeneity, economic difficulties and low number of professionals with expertise in medical genetics make strategic planning a challenging task.

A large family with CYLD cutaneous syndrome: medical genetics at the community level.

Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family with CCS having lived in a small Brazilian town for 6 generations, making its prevalence significantly high.

Population medical genetics: translating science to the community.

Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area.

Genetic variants linked to folliculogenesis and successful pregnancy are not associated with twin births in a twins' town.

Cândido Godói (CG) is a small city in South Brazil in which natural twin births (both monozygotic and dizygotic) occur at an unusually high rate and the twin trait runs through the local families, which are mostly European descendants. We have argued that a genetic founder effect must have occurred during the settlement of CG and that genetic factors may help to explain the familial aggregation of twinning in that city. The aim of this study was to evaluate single nucleotide polymorphisms (SNPs) related to folliculogenesis (rs6166:C > T in , rs11031006:G > A near , and rs17293443:T > C in ) and successful pregnancies (rs2010963:C > G in , rs1800629:G > A in , rs1801131:T > G and rs1801133:G > A in ) in mothers from CG.

Lack of association between genetic polymorphisms in IGF1 and IGFBP3 with twin births in a Brazilian population (Cândido Godói, Rio Grande do Sul).

Insulin-like growth factor (IGF-1) is an important peptide hormone involved in the reproduction and fetal development of mammals, and it is suggested that it may influence the human twinning rate. This study aimed to test such possible association, investigating the genetic polymorphisms IGF1 (CA)n and IGFBP3 rs2854744 in the population from Candido Godoi (CG), a small city located in the South of Brazil that has a high prevalence of twin births. A case-control study was performed comprising a total of 39 cases (representing about 40% of the mothers of twins who were born in CG after 1995) and 214 controls (mothers of non-twin children), 97 of whom were living in CG while 117 were living in Porto Alegre.

Twin Peaks: A spatial and temporal study of twinning rates in Brazil.

Twin births are an important public health issue due to health complications for both mother and children. While it is known that contemporary factors have drastically changed the epidemiology of twins in certain developed countries, in Brazil, relevant data are still scarce. Thus, we carried out a population-based study of live births in spatial and temporal dimensions using data from Brazil's Live Birth Information System, which covers the entire country.