Search

Abstract Background Berardinelli-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. Methods A 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. Results We 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. Conclusions Together, 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. Trial registration Study Number 31809314.0.0000.5568

High-voltage direct current (HVDC) grids have been assumed as a promising technology for its advantages in accommodation and integration of large-scale renewable energy. However, the fault current increases dramatically once the fault occurs in HVDC grids, which makes great difficulty in fault clearance. Therefore, it is necessary to take some measures to limit the fault current. A bidirectional solid current-limiter (BSCL) topology is proposed. The BSCL can improve the performance of inductors to limit DC fault currents through the high-frequency switching between two current-limiting branches. Besides, the BSCL can be installed at both ends of a DC transmission line or between a converter and a DC bus. The feasibility of the proposed topology is demonstrated in power systems computer-aided design/electro-magnetic transient design and control. Simulation results indicate that the BSCL can effectively limit the rising speed and the amplitude of short-circuit currents, decrease the maximum breaking currents of DC breakers and improve the breaking speed of DC breakers.

High sensitivity is an individual disposition to perceive and process external and internal stimuli more intensely than the average population. For measuring high sensitivity, Aron and Aron (1997) developed a unidimensional self-report questionnaire. However, Smolewska, McCabe, and Woody (2006) fitted a model with three correlated factors: ease of excitation, aesthetic sensitivity, and low sensory threshold. Both models were questioned by Evans and Rothbart (2008) who postulated a two-factor structure: negative affect and orienting sensitivity. Nonetheless, the studies presented so far are based on small samples and did not address the issues of the ordinal data and measurement invariance. We adopted the High Sensitive Person (HSP)-Scale for German-speaking populations and found that a three-factor model provided the best fit. However, we excluded 13 items because of their low factor loadings or high intercorrelations. The revised HSP-Scale fit a three-factor model. Furthermore, we could establish a high level of measurement invariance (strict invariance), indicating equality of loadings, thresholds, and residual variances across sex. The scale showed good psychometric properties and high test-retest reliability. Finally, relationships with psychological symptoms were presented. [ABSTRACT FROM AUTHOR]

High-voltage direct current (HVDC) grids have been assumed as a promising technology for its advantages in accommodation and integration of large-scale renewable energy. However, the fault current increases dramatically once the fault occurs in HVDC grids, which makes great difficulty in fault clearance. Therefore, it is necessary to take some measures to limit the fault current. A bidirectional solid current-limiter (BSCL) topology is proposed. The BSCL can improve the performance of inductors to limit DC fault currents through the high-frequency switching between two current-limiting branches. Besides, the BSCL can be installed at both ends of a DC transmission line or between a converter and a DC bus. The feasibility of the proposed topology is demonstrated in power systems computer-aided design/electro-magnetic transient design and control. Simulation results indicate that the BSCL can effectively limit the rising speed and the amplitude of short-circuit currents, decrease the maximum breaking currents of DC breakers and improve the breaking speed of DC breakers. [ABSTRACT FROM AUTHOR]

Background: Berardinelli-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. Methods: A 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. Results: We 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. Conclusions: Together, 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. Trial registration Study Number 31809314.0.0000.5568. [ABSTRACT FROM AUTHOR]

Aims/hypothesis: Mutations in BSCL2/seipin cause Berardinelli-Seip congenital lipodystrophy (BSCL), a rare recessive disorder characterised by near absence of adipose tissue and severe insulin resistance. We aimed to determine how seipin deficiency alters glucose and lipid homeostasis and whether thiazolidinediones can rescue the phenotype. Methods: Bscl2 mice were generated and phenotyped. Mouse embryonic fibroblasts (MEFs) were used as a model of adipocyte differentiation. Results: As observed in humans, Bscl2 mice displayed an early depletion of adipose tissue, with insulin resistance and severe hepatic steatosis. However, Bscl2 mice exhibited an unexpected hypotriglyceridaemia due to increased clearance of triacylglycerol-rich lipoproteins (TRL) and uptake of fatty acids by the liver, with reduced basal energy expenditure. In vitro experiments with MEFs demonstrated that seipin deficiency led to impaired late adipocyte differentiation and increased basal lipolysis. Thiazolidinediones were able to rescue the adipogenesis impairment but not the alteration in lipolysis in Bscl2 MEFs. In vivo treatment of Bscl2 mice with pioglitazone for 9 weeks increased residual inguinal and mesenteric fat pads as well as plasma leptin and adiponectin concentrations. Pioglitazone treatment increased energy expenditure and improved insulin resistance, hypotriglyceridaemia and liver steatosis in these mice. Conclusions/interpretation: Seipin plays a key role in the differentiation and storage capacity of adipocytes, and affects glucose and lipid homeostasis. The hypotriglyceridaemia observed in Bscl2 mice is linked to increased uptake of TRL by the liver, offering a new model of liver steatosis. The demonstration that the metabolic complications associated with BSCL can be partially rescued with pioglitazone treatment opens an interesting therapeutic perspective for BSCL patients. [ABSTRACT FROM AUTHOR]

Psychiatric patients are particularly vulnerable to strong weather stimuli, such as foehn, a hot wind that occurs in the alps. However, there is a dearth of research regarding its impact on mental health. This study investigated the impact of foehn wind among patients of a psychiatric hospital located in a foehn area in the Swiss Alps. Analysis was based on anonymized datasets obtained from routine records on admission and discharge, including the Brief Symptom Checklist (BSCL) questionnaire, as well as sociodemographic parameters (age, sex, and diagnosis). Between 2013 and 2020, a total of 10,456 admission days and 10,575 discharge days were recorded. All meteorological data were extracted from the database of the Federal Office of Meteorology and Climatology of Switzerland. We estimated the effect of foehn on the BSCL items using a distributed lag model. Significant differences were found between foehn and non-foehn admissions in obsession-compulsion, interpersonal sensitivity, depression, anxiety, phobic anxiety, paranoid ideation, and general severity index (GSI) ( p < 0.05). Our findings suggest that foehn wind events may negatively affect specific mental health parameters in patients. More research is needed to fully understand the impact of foehn's events on mental health.

Abstract: Congenital Generalized Lipodystrophy (CGL) or Berardinelli–Seip Syndrome (BSCL) is a rare autosomal recessive disease characterized by complete absence of adipose tissue and by several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries. Mental retardation and psychiatric disturbances are present in a variable proportion of affected patients. In the present review, the major advances in clinical, molecular and genetic characterization of BSCL affected subjects are recorded and discussed. [Copyright &y& Elsevier]

Congenital generalized lipodystrophy (CGL) or Berardinelli-Seip Syndrome (BSCL) is a rare autosomal recessive disease characterized by a nearly-complete absence of adipose tissue from birth and severe metabolic alterations. The 669insA mutation in exon 4 of the BSCL2 gene was identified as the major genetic alteration leading to BSCL in a group of 22 patients from the northeastern Brazilian state of Rio Grande do Norte. Aiming to investigate the causes of the high frequency of BSCL in this region, a molecular genetic study was conducted using eight microsatelite markers located in chromosome 11. Additional investigations concerning the proportion of expected homozygous and heterozygous individuals, genetic diversity, fixation index and coefficient of endogamy were undertaken, and indicated significant differences by comparing the allelic and haplotypic frequencies observed for the BSCL affected families and the control group. It was concluded that a founder effect, genetic drift and consanguineous marriages have significantly affected the structure of this population, resulting in the highest frequency of BSCL in Brazil. [ABSTRACT FROM AUTHOR]

Adipose tissue plays a critical role in human metabolic health. This is most dramatically illustrated by the severe metabolic disease that occurs in syndromes of lipodystrophy where individuals fail to develop or maintain appropriate adipose tissue mass. The most severe form of this disorder is congenital generalized lipodystrophy (CGL). Individuals with CGL have a striking paucity of adipose tissue and typically display severe metabolic disease with insulin resistance and dyslipidemia. Understanding of the metabolic consequences of lipodystrophies and their underlying molecular mechanisms will provide new information regarding the development and function of human adipose tissue. Mouse models of these conditions offer key resources to investigate this in vivo. Adipocyte dysfunction is believed to underlie the development of metabolic disease in obesity. Hence, understanding how one might beneficially manipulate adipose tissue by studying genes whose disruption causes lipodystrophy is likely to suggest novel means to improve metabolic health in common obesity., (© 2014 Elsevier Inc. All rights reserved.)