Rationale, design and preliminary results of the GALIPEMIAS study (prevalence and lipid control of familial dyslipidemia in Galicia, northwest Spain).

AIMS: There is little information on the familial nature of dyslipidemias in the Spanish population. This knowledge could have potential diagnostic and treatment implications. The objective of the GALIPEMIAS study was to determine the prevalence of familial dyslipidemia in Galicia, as well as determine the degree of lipid control in the participants. Prevalence of atherosclerotic cardiovascular disease (ASCVD) was also estimated. This paper presents the design, methodology and selected preliminary results. METHODOLOGY: A cross-sectional study was performed in the population aged ≥18 years using cluster sampling and then random sampling. A sample of 1000 subjects was calculated and divided into three sequential phases with a specific methodology for each one. Phase I: selection of subjects from the general population and collection of informed consent documents; Phase II: collection of data from the digital clinical history to select subjects with dyslipidemia according to study criteria; Phase III: personal interview, blood analysis, family tree, and definitive diagnosis of dyslipidemia. Prevalence of different diseases and active medication was analysed. Corrected prevalence (to the reference population) of different risk factors and ASCVD was estimated. RESULTS: Phase I participation was 89.5%. We extracted complete information from 93% of the participants (Phase II). According to the study's own criteria, 56.5% (n = 527) of the participants had some form of dyslipidemia and almost 33.7% of them had familial dyslipidemia with autosomal dominant inherit pattern. The corrected prevalence of ASCVD was 5.1% (95% CI 3.1-7.2). CONCLUSIONS: Dyslipidemia was the most prevalent cardiovascular risk factor in our population with an autosomal dominant inheritance pattern in one out of every three dyslipidemia cases. Approximately, 5.1% of the sample population aged ≥18 has suffered an episode of ACVD.

Assessment of the consequences of caregiving in psychosis: a psychometric comparison of the Zarit Burden Interview (ZBI) and the Involvement Evaluation Questionnaire (IEQ).

BACKGROUND: The Zarit Burden Interview (ZBI) was originally developed to assess the level of subjective burden in caregivers of people with dementia. The Involvement Evaluation Questionnaire (IEQ) is amongst the leading scales to assess caregiving consequences in severe mental illness. We aimed to compare the psychometric properties of the ZBI, a generic tool, and of the IEQ, a more specific tool to assess the consequences of caregiving in schizophrenia and related disorders. METHODS: Secondary analyses of a 16-week, randomized controlled trial of a psychoeducational intervention in 223 primary caregivers of patients with schizophrenia or schizoaffective disorder. Psychometric properties (internal consistency, convergent and discriminative validity, and sensitivity to change) were evaluated for both ZBI and IEQ. RESULTS: Internal consistency was good and similar for both scales (ZBI: 0.91, 95% CI: 0.89, 0.94; IEQ: 0.86, 95% CI: 0.83, 0.89). Convergent validity was relevant for similar domains (e.g. ZBI total score vs IEQ-tension r = 0.69, 95% CI: 0.61, 0.75) and at least moderate for the rest of domains (ZBI total score, personal strain and role strain vs IEQ-urging and supervision). Discriminative validity against psychological distress and depressive symptoms was good (Area Under the Curve [AUC]: 0.77, 95% CI: 0.71, 0.83; and 0.69, 95% CI: 0.63, 0.78 - for ZBI against GHQ-28 and CES-D respectively; and AUC: 0.72, 95% CI: 0.65, 0.78; and 0.69, 95% CI: 0.62, 0.77 - for IEQ against GHQ-28 and CES-D respectively). AUCs against the reference criteria did not differ significantly between the two scales. After the intervention, both scales showed a significant decrease at endpoint (p-values < 0.001) with similar standardised effect sizes for change (-0.36, 95% CI: -0.58, -0.15 - for ZBI; -0.39, 95% CI: -0.60, -0.18 - for IEQ). CONCLUSIONS: Both ZBI and IEQ have shown satisfactory psychometric properties to assess caregiver burden in this sample. We provided further evidence on the performance of the ZBI as a general measure of subjective burden. TRIAL REGISTRATION: ( ISRCTN32545295 ).

Rethinking the starch digestion hypothesis for AMY1 copy number variation in humans.

Alpha-amylase exists across taxonomic kingdoms with a deep evolutionary history of gene duplications that resulted in several α-amylase paralogs. Copy number variation (CNV) in the salivary α-amylase gene (AMY1) exists in many taxa, but among primates, humans appear to have higher average AMY1 copies than nonhuman primates. Additionally, AMY1 CNV in humans has been associated with starch content of diets, and one known function of α-amylase is its involvement in starch digestion. Thus high AMY1 CNV is considered to result from selection favoring more efficient starch digestion in the Homo lineage. Here, we present several lines of evidence that challenge the hypothesis that increased AMY1 CNV is an adaptation to starch consumption. We observe that α- amylase plays a very limited role in starch digestion, with additional steps required for starch digestion and glucose metabolism. Specifically, we note that α-amylase hydrolysis only produces a minute amount of free glucose with further enzymatic digestion and glucose absorption being rate-limiting steps for glucose availability. Indeed α-amylase is nonessential for starch digestion since sucrase-isomaltase and maltase-glucoamylase can hydrolyze whole starch granules while releasing glucose. While higher AMY1 CN and CNV among human populations may result from natural selection, existing evidence does not support starch digestion as the major selective force. We report that in humans α-amylase is expressed in several other tissues where it may have potential roles of evolutionary significance.

Lactase non-persistence and general patterns of dairy intake in indigenous and mestizo chilean populations.

OBJECTIVES: Lactase persistence (LP) is a genetic trait that has been studied among different countries and ethnic groups. In Latin America, the frequencies of this trait have been shown to vary according to the degree of admixture of the populations. The objective of this study is to better understand the relationship between this genetic trait and dairy intake in a multiethnic context through a synthesis of studies conducted in four regions of Chile. METHODS: Genotypes frequencies for the SNP LCT-13910C>T (rs4988235) and frequency of dairy consumption were obtained from four populations: Polynesians from Easter Island (Rapanui); Amerindians (Mapuche) and Mestizos from the Araucanía region; urban Mestizos from Santiago; and rural Mestizos from the Coquimbo region. Genetic differentiation and association between milk consumption and genotype frequencies were estimated. RESULTS: Genetic differentiation between Native and Mestizo populations was significant; the LP frequency in Mapuche and Rapanui was 10% and 25%, respectively, whereas among the Mestizos, LP frequency was near 40%. Dairy intake was below the nutritional recommendations for the four groups, and extremely below recommendations among the indigenous populations. Association between milk intake and LP was found in Santiago and Rapanui populations. CONCLUSIONS: Although the frequency of LP varies among the populations according to their degree of admixture, dairy consumption was very low across the populations. Given that the association between milk consumption and expected phenotype was found only in two of the populations analyzed, it seems that lactase non-persistence (LNP) is not the only cause for dairy avoidance. Thus, it is suggested that SES and cultural preferences are likely affecting dairy consumption.

Lactase persistence and dairy intake in Mapuche and Mestizo populations from southern Chile.

Lactase persistence (LP) occurs at a very low frequency in indigenous populations from Latin America, offering an opportunity to understand the relationship between this genetic trait and patterns of dairy consumption. Here, the frequency of LP is analyzed from Mapuche and -an adjacent- mestizo population inhabiting the Araucanía region. In addition to genotyping for LP, participants were surveyed in relation to general perception and consumption habits of dairy products. Low LP frequency (10%) and very low dairy intake was found among the Mapuche population as compared with Mestizo populations inhabiting Chile. The survey reported that the main reasons for avoidance of dairy were the gastrointestinal symptoms after dairy intake and cultural dietary habits. The interaction between low LP genotype frequency, low dairy intake, and sociocultural determinants is here discussed in the light of their potential health outcomes.

Nutritional Composition of Breakfast in Children and Adolescents with and without Celiac Disease in Spain-Role of Gluten-Free Commercial Products.

Eating a nutritionally balanced breakfast can be a challenge when following a gluten-free diet (GFD). We assessed the ingredients and nutrient composition of 364 gluten-free breakfast products (GFPs) and 348 gluten-containing counterparts (GCCs), and we analysed the nutritional quality of breakfast in a group of Spanish children and adolescents with celiac disease (CD) (n = 70), as compared to controls (n = 67). Food intakes were estimated using three 24 h dietary records. The composition of GFPs and GCCs was retrieved from the package labels of commercially available products. Most participants (98.5%) ate breakfast daily, and only one person in each group skipped breakfast once. The breakfast contribution of the total daily energy was 19% in participants with CD and 20% in controls. CD patients managed a balanced breakfast in terms of energy (54% from carbohydrates; 12% from proteins; 34% from lipids) and key food groups (cereals, dairy, fruits), but their intake of fruits needs improvement. Compared to controls, breakfast in the CD group provided less protein and saturated fat, a similar amount of carbohydrates and fibre, and more salt. Fibre is frequently added to GFPs, but these contain less protein because of the flours used in formulation. Gluten-free bread contains more fat and is more saturated than is GCC. Sugars, sweets, and confectionery contribute more to energy and nutrient intakes in participants with CD, while grain products do so in controls. Overall, breakfast on a GFD can be adequate, but can be improved by GFPs reformulation and a lower consumption of processed foods.

Gluten-Free Product Contribution to Energy and Macronutrient Intakes in Spanish Children and Adolescents with Celiac Disease.

Gluten-free products (GFP) are a good choice for the replacement of cereals when following a gluten-free diet due to celiac disease (CD). However, commercial GFP are made with highly refined flours and may contain more fat, sugar, and salt, and less fiber and micronutrients than gluten-containing analogues, thus challenging the nutritional adequacy of the diet. The aim of this study is to assess the contribution of GFP to the diets of children and adolescents with CD. Food intakes were assessed in a cross-sectional study on 70 children and adolescents with CD (aged four to 18, 50% females), using three 24-h dietary records. GFP consumption reached 165 g a day and comprised mostly bread and fine bakery ware, followed by pasta. GFP contributed with a high percentage (>25%) to total energy, carbohydrates, fiber, and salt daily intakes and, to a lesser extent (<20%), to fat (including saturated fat), sugars and protein. Contribution of homemade products was testimonial. GFP contribution to total energy intake is significant and, consequently, relevant to the nutritional adequacy of the diet. Children and adolescents with CD could benefit from fat, saturated fat, and salt reduction, and fiber enrichment of processed GFP.

Nutritional Status in Spanish Adults with Celiac Disease Following a Long-Term Gluten-Free Diet Is Similar to Non-Celiac.

The only available treatment for celiac disease is life-long gluten exclusion. We conducted a cross-sectional age- and gender-matched study in 64 celiac adults on a long-term (>1 year) gluten-free diet and 74 non-celiac volunteers from Spain, using dietary, anthropometric, and biochemical parameters, as well as assessing bone mineral density and physical activity. Celiac adults had deficient intake (below 2/3 of the recommended intake) for folates, vitamin E, and iodine and low intake of calcium (below 80% of the recommended intake). Iron intake was also below 2/3 of the recommended intake in celiac women. Vitamin D intake was extremely low, and 34% of celiac patients had moderately deficient plasma levels. According to bone mineral density, celiac women may be more prone to osteopenia and osteoporosis. However, we found a perfectly analogous nutritional status scenario in celiac as compared to healthy volunteers, with the dietary deviations found being similar to those of the Spanish population, i.e., both groups followed a high-lipid, high-protein, and low-carbohydrate diet. Values for biochemical parameters were found within the reference ranges. Celiac disease had no influence on body weight, but body fat in celiac patients tended to be higher. According to our results, vitamin D, calcium, folates, vitamin E, iodine, and iron nutritional status should be specifically assessed and monitored in the celiac population.

Effectiveness, Safety, and Adherence to Treatment of Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors in Real Practice.

PURPOSE: To evaluate the effectiveness, adverse reactions, and adherence to treatment of hypolipidemic inhibitors of proprotein convertase subtilisin/kexin type 9 (PCSK9is) in a context of real clinical practice. METHODS: We present an observational, retrospective, descriptive, multicenter study of patients with hypercholesterolemia who began treatment with PCSK9is between January 2017 and December 2019, with a minimum treatment period of 3 months. The main variable we recorded was the frequency of cardiovascular events (cardiovascular death, myocardial infarction, stroke, coronary revascularization, and hospitalization for unstable angina) in patients treated with PCSK9is. We recorded patient demographic characteristics and cardiovascular risk factors at onset of treatment as well as LDL-C levels and their reductions at 3, 6, 12, and 24 months. We calculated adherence to treatment and recorded the adverse reactions during treatment. FINDINGS: A total of 154 patients were studied, 64 (41.6%) of whom were treated with alirocumab and 90 (58.4%) with evolocumab. The initial dose of alirocumab was 75 mg every 14 days in 48 patients (75%) and 150 mg eery 14 days in 16 (25%). All patients who in the evolocumab group received a dose of 140 mg every 14 days. The mean (SD) basal LDL-C level was 159.6 (50.1) mg/dL, the level at 3 months was 87.9 (49.9) mg/dL (mean [SD] decrease, 44.5% [28.2%]), the level at 6 months was 86.7 (49.2) mg/dL (mean [SD] decrease, 46.3% [25.6%]), and the level at 12 months was 80.5 (41.4) (mean [SD] decrease, 48.9% [23.0%]). These values were maintained at 24 months (mean [SD], 80.3 [41.8] mg/dL; mean [SD] decrease, 47.9% [27.8%]). The percentage decrease of LDL-C for both drugs was approximately 50%, which was maintained until 24 months after treatment. Six patients (3.9%) presented with some cardiovascular event: acute myocardial infarction (2 [1.3%]), stroke (1 [0.65%]), coronary revascularization (1 [0.65%]), and hospitalization for unstable angina (2 [1.3%]). We did not see any adverse reactions related to PCSK9i treatment in 76.5% of patients. In the first 6 months, adherence to treatment with PCSK9is, measured as the possession ratio, was a mean (SD) of 99.4% (3.9%). In the rest of the study period (6-24 months), the mean (SD) adherence to treatment was 99.2% (4.7%). IMPLICATIONS: The frequency of cardiovascular events in patients treated with PCSK9is was low and occurred despite adequate adherence to treatment (100% possession ratio) with PCSK9is and concomitant treatment with other hypolipidemics. The effectiveness of PCSK9is is similar to that referred to in other published studies with PCSK9is, and this was maintained in the long term (24 months) with few adverse events, all of which were mild.

[Tuberculosis-related hospitalization in Spain: a cost analysis]. / Hospitalizaciones por tuberculosis en España: análisis de sus costes.

OBJECTIVE: To evaluate the number and cost of hospitalizations due to tuberculosis occurring in the Spanish National Health System (NHS) during 1999 to 2006. METHODS: The specific diagnosis-related groups (DRG) for tuberculosis (DRGs 705, 709, 711 and 798-802) were analyzed. RESULTS: We observed a striking decrease in hospitalizations (-25%), concomitant tuberculosis-HIV infection (-8.7%), and tuberculosis-related deaths (-0.5%, NS). In addition, there was a drop in the absolute number of hospital admissions and overall cost (from 31.3 to 30.8 and from 40.6 to 40.1 million euro), and a significant decrease in the relative hospitalizations and cost with respect to the overall number and hospital budget (from 0.21% to 0.10% and from 0.15% to 0.07%). CONCLUSIONS: There is a marked decrease in tuberculosis-related hospitalizations and mortality, but the disease remains a considerable health burden.

Nutrition Transition and Health Outcomes Among Indigenous Populations of Chile.

BACKGROUND: Over the past several decades, rural and indigenous populations in Latin America have experienced abrupt and profound transformations in their lifestyles and economies, many having remarkable health consequences. Yet, these changes have had heterogeneous effects on the population's biology in different local contexts. OBJECTIVES: The primary goal was to characterize the nutrition transition and biomarkers of noncommunicable diseases (NCD) risk in 2 Chilean indigenous populations that have had divergent histories of subsistence strategies (agropastoralism compared with hunter-gathering) in the last few millennia and live in contrasting environments, and to identify context-specific factors driving the nutrition and epidemiological transitions. METHODS: One-hundred-and-ninety (90 Pehuenche and 100 Atacameño) participants aged 18-87 y completed demographic, food-frequency, and physical activity questionnaires as well as measurements of some NCD risk biomarkers: blood pressure, weight, height, body fat percentage, waist circumference, blood total cholesterol, HDL cholesterol, triglycerides, and glucose. Framingham risk scores (FRSs) were calculated based on age, sex, total cholesterol, HDL cholesterol, systolic blood pressure, smoking, diabetes status, and hypertension medication. RESULTS: Few differences in dietary composition and physical activity patterns were observed between the 2 populations. Multivariate analyses showed no differences between the 2 populations in any of the individual NCD risk biomarkers or FRSs after adjusting for age, sex, time since last meal, food insecurity in childhood, ultraprocessed food consumption, and physical activity. CONCLUSIONS: Despite contrasting ecological and historical contexts, the 2 groups are converging into similar processes of market and wage-labor integration and transitioning to a Western diet high in processed and nonlocal foods, although some aspects of their "traditional" foodways are still in practice. The frequency of individuals exhibiting NCD biomarkers "at-risk" is relatively high and corresponds to other populations that have gone through nutrition transition. Furthermore, none of these biomarkers or FRSs differed between the 2 populations, suggesting a homogenization in the NCD risk factors.

Nutritional Status in Spanish Children and Adolescents with Celiac Disease on a Gluten Free Diet Compared to Non-Celiac Disease Controls.

Patients who follow a gluten-free diet (GFD) may be prone to nutritional deficiencies, due to food restriction and consumption of gluten-free products. The aim was to assess nutritional status in celiac children and adolescents on a long-term GFD. A cross-sectional age and gender-matched study in 70 celiac and 67 non-celiac volunteers was conducted, using dietary, anthropometric, biochemical parameters, and assessing bone mineral density and physical activity. Adequacy of vitamin D intake to recommendations was very low, in both groups, and intakes for calcium and magnesium were significantly lower in celiac volunteers. Celiac children and adolescents may have a higher risk of iron and folate deficiencies. Both groups followed a high-lipid, high-protein, low fiber diet. Median vitamin D plasma levels fell below reference values, in celiac and non-celiac participants, and were significantly lower in celiac girls. Other biochemical parameters were within normal ranges. Anthropometry and bone mineral density were similar within groups. With the exception of some slightly lower intakes, children and adolescents following a GFD appear to follow the same trends as healthy individuals on a normal diet. No effect of food restriction or gluten-free product consumption was observed.

Neuroendocrine Gastroenteropancreatic Tumors: Where Are We?

AIMS: Neuroendocrine gastroenteropancreatic tumors are infrequently found neoplasms. Our objective was to analyze the survival rates for all sites that they occur in by studying different variables. MATERIALS AND METHODS: A retrospective study was carried out using records for a 7-year period from January 1, 2008 to December 31, 2014 on neuroendocrine gastroenteropancreatic tumors patients diagnosed at the Pontevedra-Salnés Hospital Complex. The variables used were as follows: age at diagnosis, tumor size, presence or absence of metastases at diagnosis, cell proliferation index, Ki-67 of each tumor, treatments received, postdiagnosis survival time, existence or not of tumor progression, and time from diagnosis to progression and from diagnosis to mortality. In relation to treatments, the information recorded was whether the treatment was endoscopic, surgical, or pharmacological. RESULTS: Ninety-three neuroendocrine tumors made up a ratio of 4.42 cases per 100,000 inhabitants per annum. The median patient follow-up time was 44 months. The overall 5-year survival rate for patients who were followed up for a minimum of 60 months (49 patients) was 65.3%. The progression-free survival was 75.6% for 41 patients who were followed up for a minimum of 60 months. The survival rate for patients receiving endoscopic treatment was 100%, as there was no patient mortality recorded for those treated by endoscopic resection during the follow-up period. CONCLUSION: Pancreatic neuroendocrine tumors may be managed conservatively in elderly patients by either monitoring them with imaging studies or treating them with somatostatin analogs. In the case of digestive tract tumors (stomach, duodenum, and rectum) that meet the criteria for endoscopic resection, this is a reliable and safe technique in the long term.

Prevalence of acromegaly in patients with symptoms of sleep apnea.

Acromegaly is a rare disease with nonspecific symptoms with acral enlargement being almost universally present at diagnosis. The estimated prevalence is 40-125 cases/million but targeted universal screening studies have found a higher prevalence (about 10 fold). The aim of the ACROSAHS study was to investigate the prevalence of acromegaly and acromegaly comorbidities in patients with sleep apnea symptoms and acral enlargement. ACROSAHS was a Spanish prospective non-interventional epidemiological study in 13 Hospital sleep referral units. Facial and acral enlargement symptoms including: ring size and shoe size increase, tongue, lips and jaws enlargement, paresthesia or carpal tunnel syndrome and widening of tooth spaces, as well as other typical acromegaly comorbidities were recorded with a self-administered questionnaire of patients who attended a first visit for sleep apnea symptoms between 09/2013 and 07/2014. Serum insulin-like growth factor type 1 (IGF1) was measured in patients with ≥1 acral symptom to determine the prevalence of acromegaly. Of the 1557 patients enrolled, 1477 with complete data (72% male) were analyzed. 530 patients (36%) reported at least 1 acral enlargement symptom and were tested for IGF-1, 41 were above range, persisted in 7, and among those, 2 cases of acromegaly were diagnosed (prevalence of at least 1.35 cases/1000). Overall, 1019 patients (69%) had ≥2 acromegaly symptoms and should have been screened according to guidelines; moreover 373 patients (25%) had ≥1 symptom of acral enlargement plus ≥3 other acromegaly symptoms. In conclusion, in patients with sleep apnea symptoms and acral enlargement, we found an acromegaly prevalence of at least 1.35 cases per 1000 and a high prevalence of typical acromegaly symptoms. It is important that sleep specialists are aware of acromegaly symptoms to aid with acromegaly diagnosis.

Characterization of surface treatments of cork stoppers by FTIR-ATR.

A general method is described for the identification of paraffin- and silicone-based surface treatments applied to single-piece natural and 1 + 1 (cork agglomerate with two natural cork disks) cork stoppers used to seal wine bottles. The method is based on Fourier transformed infrared spectroscopy (FTIR) and attenuated total reflectance (ATR) analysis of ready-for-use stoppers. The absorbance in seven wavelength bands selected as the most characteristic (2916 and 2850 cm(-)(1), for paraffins, and 2963, 1258, 1079, 1010, and 787 cm(-)(1), for silicones) was measured for both kinds of stoppers. Univariate analysis of the results enabled identification of stoppers that had received surface treatment by measuring the absorbance in two of the selected bands, representing paraffins and silicones, respectively. The type of surface treatment used was identified by discriminant analysis. Using this technique, we constructed a mathematical model using the seven bands studied. The model correctly classified 100% of the stoppers used to construct it and 91.7% of the stoppers used for validation.

A randomized trial to assess the efficacy of a psychoeducational intervention on caregiver burden in schizophrenia.

BACKGROUND: Patient's relatives usually care for patients with schizophrenia, and as informal caregivers they experience negative consequences. The aim of the EDUCA-III trial is to test the efficacy of a psychoeducational intervention program (PIP) versus standard care to reduce the caregiver burden at post-intervention (4 months), and at follow-up (8 months). METHOD: A two-arm, evaluator blind, multicentre, randomized controlled trial. The PIP group had 12 weekly group sessions. The control intervention group had the usual support and standard care. Primary outcomes were change scores since baseline on the Zarit Burden Interview (ZBI) and the Involvement Evaluation Questionnaire (IEQ). RESULTS: One hundred and nine caregivers were randomized to PIP and 114 to control condition from 23 research sites. The decrease of ZBI scores was significantly higher on the PIP arm at 4 months (mean difference [MD]=-4.33; 95% CI -7.96, -0.71), and at 8 months (MD=-4.46; 95% CI -7.79, -1.13). There were no significant decreases in the IEQ scores (MD at 4 months=-2.80; 95% CI -6.27, 0.67; MD at 8 months=-2.85; 95% CI -6.51, 0.81). CONCLUSIONS: The PIP condition seems to reduce caregiver burden. TRIAL REGISTRATION: ISRCTN32545295.

Análisis de la variable género y su influencia en la derivación a los recursos de atención en el ámbito de la salud mental / No disponible

Como demuestran recientes estudios, el sesgo de género parece afectar a las derivaciones que se llevan a cabo en recursos tanto hospitalarios como de rehabilitación psicosocial comunitaria en el caso de las personas diagnosticadas de Trastorno Mental Grave, ya que los resultados obtenidos tienden a mostrar que éstos atienden al doble de hombres que de mujeres. Con el objetivo de indagar si este dato también se da en el caso de algunos de los recursos que gestiona la organización Hermanas Hospitalarias, se extraen los datos correspondientes a las derivaciones a cuatro de sus centros (Línea de Rehabilitación Psicosocial, Clínica San Miguel, Complejo Asistencial Benito Menni de Ciempozuelos y Complejo Asistencial de Málaga) desde el año 2012 hasta el 2018 desagregado por sexo dichos datos. Los resultados obtenidos muestran que el porcentaje de hombres derivados a los diferentes recursos analizados supera al de mujeres en buena parte de los recursos analizados, si bien, la diferencia previamente planteada, únicamente se daría en el caso de los Centros de Rehabilitación Laboral (CRL) (31% vs 69%), siendo la productiva-laboral, un área especialmente atravesada por los mandatos de género. Dichos datos, a pesar de ser meramente descriptivos, pueden servir para, en primer lugar, hacer estudios de mayor envergadura de cara a comprobar este aspecto y, en segundo lugar, en caso de confirmarse, poner en marcha diferentes estrategias destinadas a disminuir la brecha de género

As recent studies show, gender bias seems to affect referrals that are carried out in both hospital and community psychosocial rehabilitation resources in the case of people diagnosed with Serious Mental Disorder, since the results obtained tend to show that these They serve twice as many men as women. With the objective of investigating whether this information is also given in the case of some of the resources managed by the Hermanas Hospitalarias organization, the data corresponding to the referrals to four of its centers (Línea de Rehabilitación Psicosocial, Clínica San Miguel, Complejo Asistencial Benito Menni de Ciempozuelos y Complejo Asistencial de Málaga) are extracted from 2012 to 2018 disaggregated by sex such data. The results obtained show that the percentage of men referred to the different resources analyzed exceeds that of women in a good part of the resources analyzed, although the difference previously raised would only occur in the case of the Centers for Labor Rehabilitation (CRL) (31% vs. 69%), being productive-labor, an area especially crossed by gender mandates. These data, despite being merely descriptive, can be used to, in the first place, carry out larger studies in order to verify this aspect and, secondly, if confirmed, implement different strategies aimed at reducing the gap of gender

Motor neuron involvement in multisystem proteinopathy: implications for ALS.

OBJECTIVE: To explore the putative connection between inclusion body myopathy, Paget disease, frontotemporal dementia (IBMPFD) and motor neuron disease (MND). METHODS: Clinical, genetic, and EMG characterization of 17 patients from 8 IBMPFD families. RESULTS: Limb weakness was the most common clinical manifestation (present in 15 patients, median onset age 38 years, range 25-52), with unequivocal evidence of upper motor neuron dysfunction in 3. EMG, abnormal in all 17, was purely neurogenic in 4, purely myopathic in 6, and mixed neurogenic/myopathic in 7. Cognitive/behavioral impairment was detected in at least 8. Mutations in VCP (R155H, R159G, R155C) were identified in 6 families, and in hnRNPA2B1 (D290V) in another family. The genetic cause in the eighth family has not yet been identified. CONCLUSION: Mutations in at least 4 genes may cause IBMPFD, and its phenotypic spectrum extends beyond IBM, Paget disease, and frontotemporal dementia (FTD). Weakness, the most common and disabling manifestation, may be caused by muscle disease or MND. The acronym IBMPFD is, therefore, insufficient to describe disorders due to VCP mutations or other recently identified IBMPFD-associated genes. Instead, we favor the descriptor multisystem proteinopathy (MSP), which encompasses both the extended clinical phenotype and the previously described prominent pathologic feature of protein aggregation in affected tissues. The nomenclature MSP1, MSP2, and MSP3 may be used for VCP-, HNRNPA2B1-, and HNRNPA1-associated disease, respectively. Genetic defects in MSP implicate a range of biological mechanisms including RNA processing and protein homeostasis, both with potential relevance to the pathobiology of more common MNDs such as amyotrophic lateral sclerosis (ALS) and providing an additional link between ALS and FTD.