2,547 research outputs found

    Reconstitution of hepatitis B virus (HBV)-specific T cell responses with treatment of human immunodeficiency virus/HBV coinfection

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    Liver-related mortality is an increasing problem in human immunodeficiency virus (HIV)/hepatitis B virus (HBV)-coinfected patients receiving highly active antiretroviral therapy (HAART). In HIV-negative patients, HBV chronicity is associated with a reduction in specific T cell responses that can be partially restored by treatment with lamivudine. We studied 5 HIV/HBV-coinfected patients treated with HAART, either with or without addition of a drug with specific anti-HBV activity. Our data show that reconstitution of some HBV-specific T cell responses can also occur in HIV-positive patients after a reduction in HBV load. This potential to recover T cell responses, which has been thought to be critical for HBV control, provides support for the addition of anti-HBV therapy in the treatment of HIV/HBV-coinfected patients

    Slipped Capital Femoral Epiphysis. A Report of 4 Cases Occurring in One Family

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    We describe slipped capital femoral epiphysis in 4 members of a black, obese family, who were all first-degree relatives. The aetiology of slipped capital femoral epiphysis is unknown, although it is thought to be multifactorial. Genetic predisposition and environmental factors have been associated with the condition. A familial incidence with at least two cases in the same family has been reported. In epidemiological studies, this incidence ranges from 3% to 35%. Our cases were investigated in an attempt to find a possible aetiological genetic factor. A genetic predisposition with an autosomal dominant pattern of transmission is suggested, although environmental variables must be considered as provocative factors

    The reality of an Obesity Surgical Treatment Center in Portugal

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    Introduction: Obesity surgery is used as the most effective treatment for morbid obesity, with better cost-benefit, less morbidity and mortality. The present study aimed to analyze the results of a surgical center for obesity treatment and integrate them with the most recent scientific evidence. Methods: Retrospective cross-sectional observational study involving 270 patients aged 18 years or older, who underwent bariatric surgery between July 2008 and February 2020 in a private hospital in Portugal. Results: The sample presented an average age of 44 ± 12 years, being mostly female (83.7%). The average pre-surgery Body Mass Index was 41.1 ± 4.9 kg/m2 . The most performed surgery was Gastric Bypass (80.4%), followed by Gastric Banding (14.8%) and Gastric Sleeve (4.8%). One month after surgery, there was a percentage of excess weight lost (% EWL) of 25.2 ± 9.6%. After 6 months, there was an average % EWL of 67.2 ± 23.2%. One year after surgery, the average % EWL was 75.7 ± 25.7%, the average Body Mass Index was 29.3 ± 4.6 kg/m2 and the average weight loss percentage was 29.5 ± 9.4%. Conclusion: Gastric Bypass is the mostly performed surgery, because it is the Gold Standard method for surgical treatment of obesity in this center. On average, all surgeries performed have extremely positive results of excess weight lost. After 1 year, patients maintained an average weight loss percentage of 29.5 ± 9.4%, in line with data presented in a study that estimated an average recorded weight loss percentage of 28.9%. Data like those presented by the American Society for Nutrition (ASN), the Obesity Action Coalition (OAC), the International Federation for the Surgery of Obesity and Metabolic Disorders (IFSO), the International Society for the Perioperative Care of the Obese Patient (ISPCOP) and the American Society for Parenteral and Enteral Nutrition (ASPEN) (2019), indicate a target weight loss percentage between 20 and 45%.info:eu-repo/semantics/publishedVersio

    Food Intake in Pregnant Women with Gestational Diabetes Mellitus

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    Rationale: The aim of the present study was to verify the fulfillment of the nutritional requirements of macronutrients of pregnant women diagnosed with Gestational Diabetes Mellitus (GDM) at Lusíadas Lisboa Hospital. Inadequate glycemic control in GDM increases the risk of maternal, fetal and neonatal consequences, in this sense, nutritional therapy is essential during the follow-up of these pregnant women. Methods: Cross-sectional observational study. The study sample included 20 pregnant women diagnosed with GDM. Participants were asked to answer a questionnaire that included relevant data and to complete a three-day food record, for which they gave consent. A statistical analysis was performed with IBM® SPSS® 25. Results: The mean age measured was 35±4 years and 75% of the sample were in the 3º trimester. In the pre-gestational period, the sample had a Body Mass Index (BMI) of 26,2±5,3kg/m2 . The mean fasting capillary blood glucose was 89±9mg/dL and the postprandial was 119±19mg/dL. 75% reached the fasting glycemic objective and 95% the postprandial. It was also found that pregnant women who didn´t meet the goal set for fasting blood glucose, had higher pre-gestational BMI. In terms of macronutrients, it was found that 75% of the sample didn´t reach Total Energy Requirements (TER), 50% didn´t reach protein (1,1g/kg of current weight/day and 15-20% TER), 10% lipid (30% TER) and all carbohydrates (50-55% TER), with only 35% reaching the daily minimum of carbohydrates (175g). It was also found that sample didn´t reach 28g/day of fiber. Conclusions: The present study demonstrated the importance of an individualized nutritional intervention by a nutritionist with pregnant women diagnosed with GDM. The importance of this intervention is based on adherence to an adequate dietary pattern that prevents nutritional deficits, enhances clinical outcomes and contributes to the prevention of the incidence of GDM.info:eu-repo/semantics/publishedVersio

    Genetic variability of the functional domains of chromodomains helicase DNA-binding (CHD) proteins

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    In the past few years, there has been an increasing neuroscientific interest in understanding the function of mammalian chromodomains helicase DNA-binding (CHD) proteins due to their association with severe developmental syndromes. Mammalian CHDs include nine members (CHD1 to CHD9), grouped into subfamilies according to the presence of specific functional domains, generally highly conserved in evolutionary terms. Mutations affecting these domains hold great potential to disrupt protein function, leading to meaningful pathogenic scenarios, such as embryonic defects incompatible with life. Here, we analysed the evolution of CHD proteins by performing a comparative study of the functional domains of CHD proteins between orthologous and paralogous protein sequences. Our findings show that the highest degree of inter-species conservation was observed at Group II (CHD3, CHD4, and CHD5) and that most of the pathological variations documented in humans involve amino acid residues that are conserved not only between species but also between paralogs. The parallel analysis of both orthologous and paralogous proteins, in cases where gene duplications have occurred, provided extra information showing patterns of flexibility as well as interchangeability between amino acid positions. This added complexity needs to be considered when the impact of novel mutations is assessed in terms of evolutionary conservation.This research was funded by FEDER—Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020—Operacional Programme for Competitiveness and Internationalization (POCI), Portugal 2020, and by Portuguese funding through FCT—Fundação para a Ciência e a Tec-nologia, within the framework of the Project POCI-01–0145-FEDER-007274 to i3S and by FCT research project POCI-01–0145-FEDER-29723. ARC holds a FCT PhD Fellowship (SFRH/BD/141702/2018)

    Essential genetic findings in neurodevelopmental disorders

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    Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, de novo). Such a network of interacting players creates difficulties in establishing rigorous genotype-phenotype correlations. Furthermore, individual lifestyles may also contribute to the severity of the symptoms fueling a large spectrum of gene-environment interactions that have a key role on the relationships between genotypes and phenotypes.Herein, a review of the genetic discoveries related to NDDs is presented with the aim to provide useful general information for the medical community.This work was financed by FEDER - Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020 - Operacional Programme for Competitiveness and Internationalization (POCI), Portugal 2020, and by Portuguese funds through FCT - Fundação para a Ciência e a Tecnologia, in the framework of the project POCI-01-0145-FEDER-007274 to i3S and UID/ BIM/04501/2013 and UID/BIM/04501/2019 to iBiMED, as well as by national funds (OE), through FCT, in the scope of the framework contract foreseen in the numbers 4, 5, and 6 of the article 23, of the Decree-Law 57/2016, of August 29, changed by Law 57/2017, of July 19 to RMS, and by FCT research project POCI-01-0145-FEDER-29723. ARC and CS hold FCT PhD fellowships (SFRH/BD/141702/2018-ARC and SFRH/BD/137925/2018-CS). Funders had no role in the design, collection, analysis, interpretation of the data, and writing of the manuscript

    Association of physical activity with physical function and quality of life in people with hip and knee osteoarthritis: longitudinal analysis of a population-based cohort

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    Hip and knee osteoarthritis (HKOA) is a chronic disease characterized by joint pain that leads to reduced physical function and health-related quality of life (HRQoL). At present, no cure is available. Clinical trials indicate that people with HKOA benefit from physical activity in several health-related outcomes. However, few studies have evaluated the long-term positive effect of regular physical activity. This study analyzed participants with HKOA from a nationwide population-based cohort (EpiDoC Cohort) to assess the impact of physical activity on patients' physical function and HRQoL over a long-term follow-up. The regular weekly frequency of intentional physical activity was self-reported as non-frequent (0 times/week), frequent (1-2 times/week), or very frequent (≥ 3 times/week). This study followed 1086 participants over a mean period of 4.7 ± 3.4 years, during which 6.3% and 14.9% of participants reported frequent and very frequent physical activity, respectively. Using linear mixed models, we found that frequent (β = - 0.101 [- 0.187, - 0.016]; β = 0.039 [- 0.002, 0.080]) and very frequent physical activity (β = - 0.061 [- 0.118, - 0.004]; β = 0.057 [0.029, 0.084]) were associated with improved physical function and HRQoL over time, respectively, when compared with non-frequent exercise, adjusting for years to baseline, sex, age, years of education, body mass index, multimorbidity, hospitalizations, clinical severity, and unmanageable pain levels. These findings raise awareness of the importance of maintaining exercise/physical activity long term to optimize HRQoL and physical function. Further studies must address barriers and facilitators to improve the adoption of regular physical activity among citizens with HKOA.info:eu-repo/semantics/publishedVersio

    Nearly K\"ahler heterotic compactifications with fermion condensates

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    We revisit AdS_4 heterotic compactifications on nearly K\"ahler manifolds in the presence of H-flux and certain fermion condensates. Unlike previous studies, we do not assume the vanishing of the supersymmetry variations. Instead we determine the full equations of motion originating from the ten-dimensional action, and subsequently we provide explicit solutions to them on nearly K\"ahler manifolds at first order in alpha'. The Bianchi identity is also taken into account in order to guarantee the absence of all anomalies. In the presence of H-flux, which is identified with the torsion of the internal space, as well as of fermion condensates in the gaugino and dilatino sectors, new solutions are determined. These solutions provide a full classification of consistent backgrounds of heterotic supergravity under our assumptions. All the new solutions are non-supersymmetric, while previously known supersymmetric ones are recovered too. Our results indicate that fully consistent (supersymmetric or not) heterotic vacua on nearly K\"ahler manifolds are scarce, even on AdS_4, and they can be completely classified.Comment: 1+17 pages, 1 figure; v2: remark and two references added, published versio

    Development of social behaviour in young zebrafish

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    Adult zebrafish are robustly social animals whereas larva is not. We designed an assay to determine at what stage of development zebrafish begin to interact with and prefer other fish. One week old zebrafish do not show significant social preference whereas most 3 weeks old zebrafish strongly prefer to remain in a compartment where they can view conspecifics. However, for some individuals, the presence of conspecifics drives avoidance instead of attraction. Social preference is dependent on vision and requires viewing fish of a similar age/size. In addition, over the same 1-3 weeks period larval zebrafish increasingly tend to coordinate their movements, a simple form of social interaction. Finally, social preference and coupled interactions are differentially modified by an NMDAR antagonist and acute exposure to ethanol, both of which are known to alter social behavior in adult zebrafish
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