ArticleDiabetology & metabolic syndrome2017
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil.
Article in Diabetology & metabolic syndrome, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 47 citations in OpenAlex.
- Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.Diabetology & metabolic syndrome · 2025Review
- Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.Current diabetes reports · 2025Review
- Article
- The Role of theInternational journal of molecular sciences · 2025Review
- Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.Diabetology & metabolic syndrome · 2024Article
- Impaired signaling pathways on Berardinelli-Seip congenital lipodystrophy macrophages during Leishmania infantum infection.Scientific reports · 2024Article
- Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.Orphanet journal of rare diseases · 2024Article
- Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.Orphanet journal of rare diseases · 2024Article
- Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2.Frontiers in endocrinology · 2024Article
- Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.Frontiers in endocrinology · 2024Review
- Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.Frontiers in endocrinology · 2024Article
- Clusters of rare disorders and congenital anomalies in South America.Revista panamericana de salud publica = Pan American journal of public health · 2023Review
- Impaired functional exercise capacity and greater cardiovascular response to the 6-min walk test in congenital generalized lipodystrophy.BMC cardiovascular disorders · 2022Article
- Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).Orphanet journal of rare diseases · 2022Article
- DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.Genetics and molecular biology · 2022Article
- SARS-COV-2 infection outcomes in patients with congenital generalized lipodystrophy.Diabetology & metabolic syndrome · 2021Article
- Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young PeopleJournal of clinical research in pediatric endocrinology · 2020Review
- High prevalence of congenital generalized lipodystrophy in Piura, Peru.Intractable & rare diseases research · 2020Article
- Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of NovelFrontiers in endocrinology · 2020Article
- Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211XClinical diabetes and endocrinology · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBerardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare disease characterized by the almost complete absence of adipose tissue. Although a large number of BSCL cases was previously identified in Rio Grande do Norte (RN), a state in Northeast Brazil, its prevalence in RN regions and municipalities remains unknown. The purpose of this study was to better characterize the prevalence of BSCL in RN.
methodsA descriptive study was conducted using secondary data obtained from the Association of Parents and People with BSCL of RN to determine its prevalence. The patients' socio-demographic characteristics and geolocalization were analyzed.
resultsWe estimated a total of 103 BSCL cases in RN, resulting in a prevalence of 3.23 per 100,000 people. The Central Potiguar mesoregion, Seridó territory, Carnaúba dos Dantas and Timbaúba dos Batistas municipalities had a much higher prevalence of BSCL, with 20.56, 20.66, 498.05 and 217.85 per 100,000 people, respectively.
conclusionsTogether, our results showed that BSCL is highly prevalent in RN and confirmed that our state has one of the highest prevalences of this lipodystrophy worldwide. More studies are still needed to better estimate the prevalence and incidence of BSCL in RN as well as in other states in Brazil.
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