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1.
Ann Surg ; 279(5): 727-733, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38116685

RESUMO

OBJECTIVE: To determine the feasibility and effectiveness of a Hospital at Home (HaH) enabled early transfer pathways for surgical patients. BACKGROUND: HaH serves as a safe alternative to traditional hospitalization by providing acute care to patients in their homes through a comprehensive range of hospital-level interventions. To our knowledge, no studies have been published to date reporting a large cohort of early home-transferred patients after surgery through a HaH unit. METHODS: Cohort study enrolling every patient admitted to the HaH unit of a tertiary hospital who underwent any of 6 surgeries with a predefined early transfer pathway and fitting both general and surgery inclusion criteria (clinical and hemodynamic stability, uncomplicated surgery, presence of a caregiver, among others) from November 2021 to May 2023. Protocols were developed for each pathway between surgical services and HaH to deliver the usual postoperative care in the home setting. Discharge was decided according to protocol. An urgent escalation pathway was also established. RESULTS: During the study period, 325 patients were included: 141 were bariatric surgeries, 85 kidney transplants, 45 thoracic surgeries, 37 cystectomies, 10 appendicectomies, and 7 ventral hernia repairs. The overall escalation of care during HaH occurred in 7.3% of patients and 30-day readmissions in 7%. Most adverse events were managed at home and the overall mortality was zero. The total mean length of stay was 8 days (interquartile range 2-14), and patients with HaH were transferred home 3 days (interquartile range 1-6) earlier than the usual pathway; a total of 1551 bed-days were saved. CONCLUSIONS: The implementation of early home transfer pathways for surgical patients through HaH is feasible and effective, with favorable safety outcomes.


Assuntos
Hospitalização , Readmissão do Paciente , Humanos , Estudos de Coortes , Alta do Paciente , Hospitais
2.
Artigo em Inglês | MEDLINE | ID: mdl-38960585

RESUMO

BACKGROUND AND OBJECTIVE: Between 5% and 10% of amyotrophic lateral sclerosis (ALS) cases have a family history of the disease, 30% of which do not have an identifiable underlying genetic cause after a comprehensive study of the known ALS-related genes. Based on a significantly increased incidence of ALS in a small geographical region from Spain, the aim of this work was to identify novel ALS-related genes in ALS cases with negative genetic testing. METHODS: We detected an increased incidence of both sporadic and, especially, familial ALS cases in a small region from Spain compared with available demographic and epidemiological data. We performed whole genome sequencing in a group of 12 patients with ALS (5 of them familial) from this unique area. We expanded the study to include affected family members and additional cases from a wider surrounding region. RESULTS: We identified a shared missense mutation (c.1586C>T; p.Pro529Leu) in the cyclic AMP regulated phosphoprotein 21 (ARPP21) gene that encodes an RNA-binding protein, in a total of 10 patients with ALS from 7 unrelated families. No mutations were found in other ALS-causing genes. CONCLUSIONS: While previous studies have dismissed a causal role of ARPP21 in ALS, our results strongly support ARPP21 as a novel ALS-causing gene.

3.
Clin Chem Lab Med ; 62(1): 128-137, 2024 01 26.
Artigo em Inglês | MEDLINE | ID: mdl-37440753

RESUMO

OBJECTIVES: Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify missed cases of HPP was developed and implemented. METHODS: Analytical determinations recorded in the Clinical Analysis Unit of the Hospital Universitario Clínico San Cecilio in the period June 2018 - December 2020 were reviewed. A new clinical algorithm to detect HPP-misdiagnosed cases was used including the following steps: confirmation of persistent hypophosphatasemia, exclusion of secondary causes of hypophosphatasemia, determination of serum pyridoxal-5'-phosphate (PLP) and genetic study of ALPL gene. RESULTS: Twenty-four subjects were selected to participate in the study and genetic testing was carried out in 20 of them following clinical algorithm criteria. Eighty percent of patients was misdiagnosed with HPP following the current standard clinical practice. Extrapolating these results to the current Spanish population means that there could be up to 27,177 cases of undiagnosed HPP in Spain. In addition, we found a substantial proportion of HPP patients affected by other comorbidities, such as autoimmune diseases (∼40 %). CONCLUSIONS: This new algorithm was effective in detecting previously undiagnosed cases of HPP, which appears to be twice as prevalent as previously estimated for the European population. In the near future, our algorithm could be globally applied routinely in clinical practice to minimize the underdiagnosis of HPP. Additionally, some relevant findings, such as the high prevalence of autoimmune diseases in HPP-affected patients, should be investigated to better characterize this disorder.


Assuntos
Doenças Autoimunes , Hipofosfatasia , Humanos , Hipofosfatasia/diagnóstico , Hipofosfatasia/epidemiologia , Hipofosfatasia/complicações , Fosfatase Alcalina , Testes Genéticos , Mutação
4.
Spinal Cord ; 62(8): 454-467, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38898145

RESUMO

STUDY DESIGN: Double-blind, randomized, placebo-controlled, parallel-group multicentric phase IIA clinical trial. OBJECTIVE: To assess the safety and tolerability of oral administration of NFX-88 in subjects with chronic spinal cord injury (SCI) and explore its efficacy in pain control. SETTING: A total of 7 spinal cord injury rehabilitation units in Spain. METHODS: A total of 61 adult with traumatic complete or incomplete spinal cord injury (C4-T12 level), were randomised 1:1:1:1 to a placebo, NFX88 1.05 g, 2.1 g, 4.2 g/day for up to 12 weeks. The placebo or NFX-88 was administered as add-on therapy to pre-existing pregabalin (150-300 mg per day). Safety and tolerability were evaluated, and the Visual Analogue Scale (VAS) was the primary measure to explore the efficacy of NFX-88 in pain control. RESULTS: No severe treatment-related adverse effects were reported for any of the four study groups. 44 SCI individuals completed the study and were analysed. The data obtained from the VAS analysis and the PainDETECT Questionnaire (PD-Q) suggested that the combination of NFX88 with pregabalin is more effective than pregabalin with placebo at reducing neuropathic pain (NP) in individuals with SCI and that the dose 2.10 g/day causes the most dramatic pain relief. CONCLUSIONS: NFX88 treatment was found to be highly safe and well tolerated, with the dose of 2.10 g/day being the most effective at causing pain relief. Thus, the promising efficacy of this first-in-class lipid mediator deserves further consideration in future clinical trials.


Assuntos
Neuralgia , Traumatismos da Medula Espinal , Humanos , Traumatismos da Medula Espinal/complicações , Traumatismos da Medula Espinal/tratamento farmacológico , Neuralgia/tratamento farmacológico , Neuralgia/etiologia , Método Duplo-Cego , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Administração Oral , Analgésicos/administração & dosagem , Pregabalina/administração & dosagem , Resultado do Tratamento , Medição da Dor , Idoso , Adulto Jovem
5.
Int J Mol Sci ; 25(9)2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38732094

RESUMO

This article reviews the role of fibroblast growth factor 23 (FGF23) protein in phosphate metabolism, highlighting its regulation of vitamin D, parathyroid hormone, and bone metabolism. Although it was traditionally thought that phosphate-calcium homeostasis was controlled exclusively by parathyroid hormone (PTH) and calcitriol, pathophysiological studies revealed the influence of FGF23. This protein, expressed mainly in bone, inhibits the renal reabsorption of phosphate and calcitriol formation, mediated by the α-klotho co-receptor. In addition to its role in phosphate metabolism, FGF23 exhibits pleiotropic effects in non-renal systems such as the cardiovascular, immune, and metabolic systems, including the regulation of gene expression and cardiac fibrosis. Although it has been proposed as a biomarker and therapeutic target, the inhibition of FGF23 poses challenges due to its potential side effects. However, the approval of drugs such as burosumab represents a milestone in the treatment of FGF23-related diseases.


Assuntos
Fator de Crescimento de Fibroblastos 23 , Fatores de Crescimento de Fibroblastos , Fosfatos , Humanos , Fator de Crescimento de Fibroblastos 23/metabolismo , Fatores de Crescimento de Fibroblastos/metabolismo , Fatores de Crescimento de Fibroblastos/genética , Animais , Fosfatos/metabolismo , Hormônio Paratireóideo/metabolismo , Anticorpos Monoclonais Humanizados/uso terapêutico , Anticorpos Monoclonais Humanizados/farmacologia , Vitamina D/metabolismo , Osso e Ossos/metabolismo , Proteínas Klotho
6.
Heliyon ; 10(1): e23329, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38163220

RESUMO

Worldwide new trends of online cyberbullying are emerging that impact on health and are a factor in adolescent suicide. The objective of this study is to know the development of scientific production and to compare the current trends that encompass the concepts of cyberaggression in young people (CAY) and cybervictimisation in young people (CVY). The methodology used in this study was descriptive with a bibliometric analysis on CAY with 481 documents and CVY with 1087 documents, in addition to a co-word analysis of both terms from the years 2017-2021. These data were extracted from the Web of Science database and network maps were made using VOSviewer software. The results show that the terms CAY and CVY were born in 2006 and have had a different evolutionary progression in the scientific literature until 2021, in addition, the area of psychology stands out with more research on other areas, developed countries are the ones that carry out more studies of CAY and CVY and that the term "suicide" is the most prominent term since 2018 from the CVY. Finally, a discussion and conclusion of the results was made, which can serve as a turning point for future lines of research.

7.
Med Clin (Barc) ; 2024 Jul 16.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-39019666

RESUMO

With the increased life expectancy of people with cystic fibrosis (CF), clinical attention has focused on prevention and treatment of non-pulmonary comorbidities. CF-related bone disease (CFBD) is a common complication and leads to increased fracture rates. Dual energy X-ray absorptiometry (DXA) is the recommended and gold standard technique to identify and monitor bone health. However, DXA has limitations because of its two-dimensional nature. Complementary tools to DXA are available, such as trabecular bone score (TBS) and vertebral fracture assessment (VFA). Quantitative computed tomography (QCT), magnetic resonance imaging (MRI) and quantitative ultrasound (QUS) may also be useful.

8.
Endocrine ; 83(3): 747-756, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38214877

RESUMO

OBJECTIVE: Biochemical suspicion of familial hypocalciuric hypercalcemia (FHH) might provide with a negative (FHH-negative) or positive (FHH-positive) genetic result. Understanding the differences between both groups may refine the identification of those with a positive genetic evaluation, aid management decisions and prospective surveillance. We aimed to compare FHH-positive and FHH-negative patients, and to identify predictive variables for FHH-positive cases. DESIGN: Retrospective, national multi-centre study of patients with suspected FHH and genetic testing of the CASR, AP2S1 and GNA11 genes. METHODS: Clinical, biochemical, radiological and treatment data were collected. We established a prediction model for the identification of FHH-positive cases by logistic regression analysis and area under the ROC curve (AUROC) was estimated. RESULTS: We included 66 index cases, of which 30 (45.5%) had a pathogenic variant. FHH-positive cases were younger (p = 0.029), reported more frequently a positive family history (p < 0.001), presented higher magnesium (p < 0.001) and lower parathormone levels (p < 0.001) and were less often treated for hypercalcemia (p = 0.017) in comparison to FHH-negative cases. Magnesium levels showed the highest AUROC (0.825, 95%CI: 0.709-0.941). The multivariate analysis revealed that family history and magnesium levels were independent predictors of a positive genetic result. The predictive model showed an AUROC of 0.909 (95%CI: 0.826-0.991). CONCLUSIONS: The combination of magnesium and a positive family history offered a good diagnostic accuracy to predict a positive genetic result. Therefore, the inclusion of magnesium measurement in the routine evaluation of patients with suspected FHH might provide insight into the identification of a positive genetic result of any of the CaSR-related genes.


Assuntos
Hipercalcemia , Hipercalcemia/congênito , Hiperparatireoidismo Primário , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/genética , Estudos Retrospectivos , Magnésio , Estudos Prospectivos , Hiperparatireoidismo Primário/diagnóstico
9.
Artigo em Inglês | MEDLINE | ID: mdl-39164071

RESUMO

BACKGROUND: Sarcopenia and low areal bone mineral density (aBMD) are prevalent musculoskeletal complications after paediatric cancer treatment. However, their relationship has not been examined in young paediatric cancers survivors. This study aimed to evaluate aBMD differences according to sarcopenia status and the risk of low aBMD Z-score in young paediatric cancer survivors with sarcopenia confirmed/probable. METHODS: This cross-sectional study included 116 paediatric cancer survivors (12.1 ± 3.3 years old; 42.2% female). Handgrip strength was used to assessed muscle strength. Dual-energy X-ray absorptiometry estimated aBMD (g/cm2) and appendicular lean mass index (ALMI, kg/m2). 'No sarcopenia' was defined when muscle strength was >decile 2. 'Sarcopenia probable' was defined when muscle strength was ≤ decile 2 and ALMI Z-score was > -1.5 standard deviation (SD). 'Sarcopenia confirmed' was defined when muscle strength was ≤ decile 2 and ALMI Z-score ≤ -1.5 SD. Analysis of covariance and logistic regression, adjusted for time from treatment completion, radiotherapy exposure, calcium intake, and physical activity, was used to evaluate aBMD and estimate the odds ratios (ORs) of low aBMD (aBMD Z-score < -1.0). RESULTS: Survivors with sarcopenia confirmed had significantly lower aBMD than those without sarcopenia at total body (-1.2 [95% CI: -1.5 to -0.8] vs. 0.2 [-0.2 to 0.6], P < 0.001), lumbar spine (-0.7 [-1.1 to -0.3] vs. 0.4 [0.0 to 0.8], P < 0.001), total hip (-0.5 [-0.9 to -0.2] vs. 0.4 [0.1 to 0.8], P < 0.001), and femoral neck (-1.0 [-1.4 to -0.6] vs. 0.1 [-0.3 to 0.4], P = 0.001). Compared with survivors with sarcopenia probable, survivors with sarcopenia confirmed had significantly lower aBMD Z-score at total body (-1.2 [-1.5 to -0.8] vs. -0.2 [-0.7 to 0.4], P = 0.009), total hip (-0.5 [-0.9 to -0.2] vs. 0.5 [-0.1 to 1.0], P = 0.010), and femoral neck (-1.0 [-1.4 to -0.6] vs. 0.1 [-0.5 to 0.7], P = 0.014). Survivors with sarcopenia confirmed were at higher risk of low aBMD Z-score at the total body (OR: 6.91, 95% CI: 2.31-24.15), total hip (OR: 2.98, 1.02-9.54), and femoral neck (OR: 4.72, 1.72-14.19), than those without sarcopenia. Survivors with sarcopenia probable were at higher risk of low aBMD Z-score at the total body (OR: 4.13, 1.04-17.60) than those without sarcopenia. CONCLUSIONS: Young paediatric cancer survivors with sarcopenia present higher risk of low aBMD. Resistance training-based interventions designed to mitigate osteosarcopenia in this population should be implemented at early stages.

10.
Obesity (Silver Spring) ; 32(8): 1465-1473, 2024 08.
Artigo em Inglês | MEDLINE | ID: mdl-38853594

RESUMO

OBJECTIVE: Moderate-to-vigorous physical activity (MVPA) improves glucose levels; however, whether its timing affects daily glycemic control remains unclear. This study aims to investigate the impact of lifestyle MVPA timing on daily glycemic control in sedentary adults with overweight/obesity and metabolic impairments. METHODS: A total of 186 adults (50% women; age, 46.8 [SD 6.2] years) with overweight/obesity (BMI, 32.9 [SD 3.5] kg/m2) and at least one metabolic impairment participated in this cross-sectional study. MVPA and glucose patterns were simultaneously monitored over a 14-day period using a triaxial accelerometer worn on the nondominant wrist and a continuous glucose-monitoring device, respectively. Each day was classified as "inactive" if no MVPA was accumulated; as "morning," "afternoon," or "evening" if >50% of the MVPA minutes for that day were accumulated between 0600 and 1200, 1200 and 1800, or 1800 and 0000 hours, respectively; or as "mixed" if none of the defined time windows accounted for >50% of the MVPA for that day. RESULTS: Accumulating >50% of total MVPA during the evening was associated with lower 24-h (mean difference [95% CI], -1.26 mg/dL [95% CI: -2.2 to -0.4]), diurnal (-1.10 mg/dL [95% CI: -2.0 to -0.2]), and nocturnal mean glucose levels (-2.16 mg/dL [95% CI: -3.5 to -0.8]) compared with being inactive. This association was stronger in those participants with impaired glucose regulation. The pattern of these associations was similar in both men and women. CONCLUSIONS: These findings suggest that timing of lifestyle MVPA is significant. Specifically, accumulating more MVPA during the evening appears to have a beneficial effect on glucose homeostasis in sedentary adults with overweight/obesity and metabolic impairments.


Assuntos
Glicemia , Exercício Físico , Controle Glicêmico , Obesidade , Sobrepeso , Comportamento Sedentário , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Exercício Físico/fisiologia , Estudos Transversais , Obesidade/sangue , Obesidade/terapia , Sobrepeso/terapia , Sobrepeso/sangue , Adulto , Controle Glicêmico/métodos , Glicemia/metabolismo , Acelerometria , Fatores de Tempo , Estilo de Vida
11.
Bone Marrow Transplant ; 59(6): 777-784, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38409332

RESUMO

Mesenchymal stromal cells (MSC) have immunomodulatory and tissue-regenerative properties and have shown promising results in acute respiratory distress syndrome (ARDS) of multiple causes, including COVID-19. We conducted a randomised (1:1), placebo-controlled, double-blind clinical trial to assess the efficacy and safety of one bone marrow-derived MSC infusion in twenty patients with moderate to severe ARDS caused by COVID-19. The primary endpoint (increase in PaO2/FiO2 ratio from baseline to day 7, MSC 83.3 versus placebo 57.6) was not statistically significant, although a clinical improvement at day 7 in the WHO scale was observed in MSC patients (5, 50% vs 0, 0%, p = 0.033). Median time to discontinuation of supplemental oxygen was also shorter in the experimental arm (14 versus 23 days, p = 0.007), resulting in a shorter hospital stay (17.5 versus 28 days, p = 0.042). No significant differences were observed for other efficacy or safety secondary endpoints. No infusion or treatment-related serious adverse events occurred during the one-year follow-up. This study did not meet the primary endpoint of PaO2/FiO2 increase by day 7, although it suggests that MSC are safe in COVID-19 ARDS and may accelerate patients' clinical recovery and hospital discharge. Larger studies are warranted to elucidate their role in ARDS and other inflammatory lung disorders.Trial Registration: EudraCT Number: 2020-002193-27, registered on July 14th, 2020, https://www.clinicaltrialsregister.eu/ctr-search/trial/2020-002193-27/ES . NCT number: NCT04615429, registered on November 4th, 2020, https://clinicaltrials.gov/ct2/show/NCT04615429 .


Assuntos
COVID-19 , Transplante de Células-Tronco Mesenquimais , Síndrome do Desconforto Respiratório , Humanos , Método Duplo-Cego , COVID-19/terapia , COVID-19/complicações , Transplante de Células-Tronco Mesenquimais/métodos , Masculino , Feminino , Pessoa de Meia-Idade , Síndrome do Desconforto Respiratório/terapia , Idoso , Adulto , SARS-CoV-2 , Resultado do Tratamento , Células-Tronco Mesenquimais/citologia
12.
BMJ Open ; 14(1): e078472, 2024 01 24.
Artigo em Inglês | MEDLINE | ID: mdl-38267239

RESUMO

INTRODUCTION: Metabolic dysfunction-associated steatotic liver disease is a major public health problem considering its high prevalence and its strong association with extrahepatic diseases. Implementing strategies based on an intermittent fasting approach and supervised exercise may mitigate the risks. This study aims to investigate the effects of a 12-week time-restricted eating (TRE) intervention combined with a supervised exercise intervention, compared with TRE or supervised exercise alone and with a usual-care control group, on hepatic fat (primary outcome) and cardiometabolic health (secondary outcomes) in adults with obesity. METHODS AND ANALYSIS: An anticipated 184 adults with obesity (50% women) will be recruited from Granada (south of Spain) for this parallel-group, randomised controlled trial (TEMPUS). Participants will be randomly designated to usual care, TRE alone, supervised exercise alone or TRE combined with supervised exercise, using a parallel design with a 1:1:1:1 allocation ratio. The TRE and TRE combined with supervised exercise groups will select an 8-hour eating window before the intervention and will maintain it over the intervention. The exercise alone and TRE combined with exercise groups will perform 24 sessions (2 sessions per week+walking intervention) of supervised exercise combining resistance and aerobic high-intensity interval training. All participants will receive nutritional counselling throughout the intervention. The primary outcome is change from baseline to 12 weeks in hepatic fat; secondary outcomes include measures of cardiometabolic health. ETHICS AND DISSEMINATION: This study was approved by Granada Provincial Research Ethics Committee (CEI Granada-0365-N-23). All participants will be asked to provide written informed consent. The findings will be disseminated in scientific journals and at international scientific conferences. TRIAL REGISTRATION NUMBER: NCT05897073.


Assuntos
Doenças Cardiovasculares , Fígado Gorduroso , Adulto , Feminino , Humanos , Masculino , Exercício Físico , Caminhada , Obesidade/complicações , Obesidade/terapia , Doenças Cardiovasculares/prevenção & controle , Ensaios Clínicos Controlados Aleatórios como Assunto
13.
Sci Data ; 10(1): 916, 2023 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-38123598

RESUMO

Type 1 diabetes mellitus (T1D) patients face daily difficulties in keeping their blood glucose levels within appropriate ranges. Several techniques and devices, such as flash glucose meters, have been developed to help T1D patients improve their quality of life. Most recently, the data collected via these devices is being used to train advanced artificial intelligence models to characterize the evolution of the disease and support its management. Data scarcity is the main challenge for generating these models, as most works use private or artificially generated datasets. For this reason, this work presents T1DiabetesGranada, an open under specific permission longitudinal dataset that not only provides continuous glucose levels, but also patient demographic and clinical information. The dataset includes 257 780 days of measurements spanning four years from 736 T1D patients from the province of Granada, Spain. This dataset advances beyond the state of the art as one the longest and largest open datasets of continuous glucose measurements, thus boosting the development of new artificial intelligence models for glucose level characterization and prediction.


Assuntos
Diabetes Mellitus Tipo 1 , Humanos , Inteligência Artificial , Glicemia , Automonitorização da Glicemia/métodos , Glucose , Qualidade de Vida
14.
Front Endocrinol (Lausanne) ; 14: 1320516, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38234425

RESUMO

Introduction: Hypophosphatasia (HPP) is an inborn metabolic error caused by mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP) and leading to decreased alkaline phosphatase (ALP) activity. Although the main characteristic of this disease is bone involvement, it presents a great genetic and clinical variability, which makes it a systemic disease. Methods: Patients were recruited based on biochemical assessments. Diagnosis was made by measuring serum ALP and pyridoxal 5-phosphate levels and finally by Sanger sequencing of the ALPL gene from peripheral blood mononuclear cells. Characterization of the new variants was performed by transfection of the variants into HEK293T cells, where ALP activity and cellular localization were measured by flow cytometry. The dominant negative effect was analyzed by co-transfection of each variant with the wild-type gene, measuring ALP activity and analyzing cellular localization by flow cytometry. Results: Two previously undescribed variants were found in the ALPL gene: leucine 6 to serine missense mutation (c.17T>C, L6S) affecting the signal peptide and threonine 167 deletion (c.498_500delCAC, T167del) affecting the vicinity of the active site. These mutations lead mainly to non-pathognomonic symptoms of HPP. Structural prediction and modeling tools indicated the affected residues as critical residues with important roles in protein structure and function. In vitro results demonstrated low TNSALP activity and a dominant negative effect in both mutations. The results of the characterization of these variants suggest that the pleiotropic role of TNSALP could be involved in the systemic effects observed in these patients highlighting digestive and autoimmune disorders associated with TNSALP dysfunction. Conclusions: The two new mutations have been classified as pathogenic. At the clinical level, this study suggests that both mutations not only lead to pathognomonic symptoms of the disease, but may also play a role at the systemic level.


Assuntos
Hipofosfatasia , Humanos , Hipofosfatasia/genética , Hipofosfatasia/patologia , Fosfatase Alcalina , Células HEK293 , Leucócitos Mononucleares/metabolismo , Mutação
15.
Rev. bras. educ. espec ; 28: e0135, 2022. tab
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1365602

RESUMO

RESUMO: No atual contexto português, é ainda visível a generalizada dificuldade em obter instrumentos de avaliação adaptados à população com Dificuldades Intelectuais e Desenvolvimentais (DID) que avaliem o constructo da autodeterminação. Nesse sentido, este artigo tem por objetivo a adaptação e a validação da Arc's Self-Determination Scale à população adolescente e adulta portuguesa com DID. Para esse efeito, foram seguidas as recomendações internacionais inerentes a processos dessa natureza, culminando em uma avaliação de 11 peritos para a evidência quantitativa da validade de conteúdo. Todos os itens dessa escala foram considerados como relevantes ou muito relevantes (n=72), tendo-se obtido acordos moderados (k>.40) e excelentes (k>.75) entre os peritos no cálculo do Kappa de Cohen. A amostra foi constituída por 500 indivíduos adolescentes e adultos entre 16 e 70 anos de idade (24.03±9.15), sendo 256 do género feminino e 244 do género masculino com e sem DID. A escala apresentou uma excelente consistência interna (α=.89), com tendência para correlações fracas a moderadas (.01>r<.51). Os procedimentos inerentes à validade de constructo são, igualmente, apresentados e discutidos. Os principais resultados parecem apontar a ideia de que o instrumento em estudo apresenta as características de validade e de fiabilidade necessárias para que possa ser utilizado em nível nacional.


ABSTRACT: In the current Portuguese context, the generalized difficulty in obtaining assessment instruments adapted to the population with Intellectual and Developmental Difficulties (IDD) that evaluate the construct of self-determination is still visible. In this sense, this paper aims to adapt and validate the Arc's Self-Determination Scale to the Portuguese adolescent and adult population with IDD. To this end, it was considered the international guidelines in cross-cultural adaptation process, culminating with an evaluation of 11 experts for the quantitative evidence of the content validity. All items of this scale were considered as relevant or very relevant (n=72) and there was a moderated (k>.40) and an excellent agreement (k>.75) among the experts in the calculation of Cohen's Kappa. The sample comprised 500 adolescents/adults, aged between 16 and 70 years-old (24.03±9.15), 256 females and 244 males with and without IDD. The scale showed an excellent internal consistency (α=.89) and weak to moderate correlations between sections (.01>r<.51). The procedures inherent to the validity of construct are also presented and discussed. The main results seem to point out the idea that the instrument under study presents the characteristics of validity and reliability required so that it can be used at the national level.

16.
Artigo em Espanhol | LILACS, MTYCI | ID: biblio-911752

RESUMO

Se investigó el uso de plantas medicinales entre los habitantes de Sogamoso, población agraria en el departamento de Boyacá, Colombia, donde campesinos en sus huertos y paisajes de zona andina y páramo preservan y usan una alta diversidad de plantas, manteniendo una cultura de saberes tradicionales, para el tratamiento de enfermedades humanas o de uso etno-veterinario; aprovechando así los beneficios que conlleva la conservación, para preservar y utilizar especies registradas. La metodología desarrollada fue una investigación de acción participativa, donde se realizaron encuestas de tipo específico a 100 personas, quienes expresaron tener un uso de las plantas medicinales. Se incluyó la caracterización ecológica de la zona elegida, comprendiendo las microcuencas de río Monquirá y río Cusiana, donde los recursos in-situ fueron inventariados con la comunidad, recopilándose fotografías, usos de las plantas nativas, exóticas o cultivadas en huertos. Como resultado se obtuvo la descripción a nivel botánico, ecológico, climático, así como las prácticas para la conservación o siembra, inventariándose más de 178 especies, en 55 familias con sus respectivos usos medicinales y formas de preparación, incluyendo la categorización de plantas frías, calientes, de aplicaciones externas o de elaboración de productos. Se recopilo el saber popular y se rescató el uso tradicional de plantas medicinales nativas que poseen los mayores o abuelos y que es transmitido de generación en generación.


Assuntos
Humanos , Plantas Medicinais , Saúde Pública , População Rural , Colômbia , Etnobotânica , Fitoterapia
17.
Rev. cuba. med ; 53(4): 373-391, sep.-dic. 2014.
Artigo em Espanhol | LILACS, CUMED | ID: lil-735337

RESUMO

INTRODUCCIÓN: los resultados a largo plazo de la terapia antirretroviral combinada (TARVC) en África han sido escasamente reportados. OBJETIVO: evaluar la efectividad de la TARVC a través de 2 factores determinantes: la mortalidad y la pérdida del seguimiento. MÉTODOS: estudio descriptivo, retrospectivo, longitudinal, en 1 000 adultos que comenzaron TARVC en el 2004 y fueron seguidos hasta el 2009 en el hospital "Esperança", en Luanda. RESULTADOS: el conteo basal medio de linfocitos T CD4+ fue de 147,1 cél/mm3. El 46 % se presentó con estadio clínico III o IV de la Organización Mundial de la Salud. La edad promedio fue 34,6 años. Durante 60 000 meses-personas de seguimiento (media 34 meses), 335 pacientes fallecieron, 153 fueron perdidos en el seguimiento y la retención en el tratamiento a los 5 años fue 51,2 %. La tasa cruda de muerte fue 7,9 por 100 años-persona (95 % IC 5,6-8,3). Se detectó un tiempo medio de supervivencia significativamente menor en las mujeres (39,1 meses vs. 42), en aquellos con un conteo basal de linfocitos T CD4+ menor de 200 cél/mm3 (27,3 meses vs. 32,4), en los clasificados en los estadios avanzados de la OMS (25,6 meses vs. 31,7) y en los que alcanzaban tanto criterios clínicos como inmunológicos para iniciar la terapia (30,4 meses vs. solo con inmunológicos 33,7). CONCLUSIONEs: se observó una buena retención a largo plazo y resultados clínicos. La mortalidad relativamente elevada a los 5 años presenta un desafío importante para lograr mejores resultados de la TARVC y sugiere la necesidad de reforzar las estrategias que promuevan la adherencia al tratamiento.


INTRODUCTION: long-term results of combination antiretroviral therapy (cART) in Africa have been poorly informed. OBJECTIVE: To evaluate the effectiveness of TARVC through 2 factors: mortality and follow-up loss. METHODS: A descriptive, retrospective, longitudinal study was conducted in 1000 adults who began cART in 2004 and were followed until 2009 at "Esperança" Hospital in Luanda. RESULTS: The CD4 + count mean baseline of T lymphocytes was 147.1 cells/mm3. 46 % presented with clinical stage III or IV according to World Health Organization standards. The average age was 34.6 years. During 60 000 person-months follow-up (mean 34 months), 335 patients died, 153 lost follow up and adherence to treatment after 5 years was 51.2 %. The gross mortality rate was 7.9 (95 % CI 5.6 to 8.3) 100 person-years. A significantly shorter survival mean was detected in women (39.1 months vs. 42), in those with lymphocytes CD4 + count baseline below 200 cells/mm3 (27.3 months vs. 32.4), in those classified in advanced stages according to WHO standards (25.6 months vs. 31.7) and in those reaching both clinical and immunological criteria to start therapy (30.4 months vs. 33.7 immunological only). CONCLUSIONS: A good long-term adherence to treatment and clinical outcomes were observed. The relatively high mortality after 5 years presents a major challenge for better cART results and suggests the need to strengthen strategies to promote treatment adherence.


Assuntos
Humanos , Mortalidade/etnologia , Terapia Antirretroviral de Alta Atividade/métodos , África/epidemiologia , Perda de Seguimento
18.
Univ. psychol ; 11(3): 909-920, set.-dic. 2012. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-675410

RESUMO

El presente trabajo estudia la relación entre práctica físico-deportiva, motivos para realizarla y flujo experimentado en dicha práctica en una muestra de 101 jóvenes españoles. Los participantes respondieron autoinformes de actividad físico-deportiva, motivos para realizar esa actividad (Capdevila, 2003) y experiencias de flow en la misma (Jackson & Eklund, 2002). Los resultados indicaron que los hombres realizan más ejercicio y deporte que las mujeres, manifiestan una mayor motivación intrínseca y experimentan un mayor nivel de flujo en la actividad físico-deportiva. El flujo experimentado y los motivos intrínsecos se mostraron como factores predictores de la práctica físico-deportiva, mientras que los motivos extrínsecos no predijeron dicha práctica. Los resultados anteriores sugieren que fomentar motivos de diversión y experiencias subjetivas positivas como el flujo ayudarán a incrementar la adherencia a la práctica físico-deportiva en jóvenes.


In this study we explored the relationship between exercise - sports practice, motives for practice and flow experienced during such activities in a sample of Spanish young adults. 101 participants responded self-reports on exercise-sports practice, motives (Capdevila, 2003) and states of flow (Jackson & Eklund, 2002). The results indicated that, compared to women, physical practice was higher among men, who also showed a higher intrinsic motivation and experienced flow at a higher degree. Flow and intrinsic motives predicted physical practice, whilst extrinsic motives could not predict it. These results point out that promoting enjoyment-related motives and positive subjective experiences such as flow might help in enhancing adherence to exercise and sports among young people.


Assuntos
Exercício Físico , Psicologia do Esporte , Motivação
19.
Rev. cuba. salud pública ; 36(2): 132-141, mayo-jun. 2010.
Artigo em Espanhol | LILACS | ID: lil-571687

RESUMO

La salud pública demanda del enfoque de género para la identificación de las diferencias entre mujeres y hombres y de los factores que conducen a su aparición, todo lo cual facilita la implementación de acciones diferenciadas para disminuir las brechas entre los sexos. Objetivos Identificar los aspectos de la vida que con màs fuerza marcan diferencias entre mujeres y hombres en las etapas del ciclo vital. Se utilizaron métodos cualitativos y cuantitativos. Los primeros se utilizaron en la identificación del perfil amplio de aspectos de la vida que producen diferencias de género, entre ellos, grupos de discusión con los adolescentes y grupos nominales para la exploración en individuos de la etapa reproductiva, adulta mediana y adulta avanzada. Posteriormente, con la ayuda del anßlisis discriminante como herramienta cuantitativa, se llegó a la determinación de los perfiles específicos. Dentro del perfil específico, los aspectos relacionados con la vida cotidiana y la salud fueron los mßs referidos. La realización de las tareas del hogar, los problemas de la salud y los hàbitos tóxicos se consideraron fuertes marcadores de diferencias entre los sexos en todas las etapas estudiadas. Se identificaron otros elementos que se manifiestan de forma diferente entre mujeres y hombres y que responden a las características de cada momento de la vida como el trabajo remunerado en la etapa reproductiva, la actitud ante la jubilación en la edad adulta avanzada. Conclusiones El patrón de diferencias de género del contexto social cubano se caracteriza por el amplio espectro de aspectos de la vida y aquellos que conforman los perfiles específicos de cada etapa del ciclo vital son los que con mßs fuerza producen diferencias de género entre hombres y mujeres


Public health requires gender approach to identify the differences between women and men, and the factors leading to their emergence, all of which facilitates the implementation of specific actions to reduce the sex gap. Objectives: to identify those aspects of life that heavily influence the differences between men and women in the lifecycle phases. Qualitative and quantitative methods were used. The former helped to identify the broad profile of those aspects of life that bring about gender differences, among them, groups of debate with teenagers and nominal groups for exploration in individuals at reproductive age, middle adulthood and older adulthood. Later, the discriminating analysis used as quantitative tool allowed determining the specific profiles. Within the specific profile, daily life- and health-associated aspects were the most referred. House chores, health problems and toxic habits were considered as strong markers of differences between the sexes in all the studied stages. Likewise, there was identification of other elements that manifest themselves differently in men and women and that respond to the characteristics of each moment of life such as paid work at reproductive phase and attitude towards retirement at older age. The pattern of gender differences in the Cuban social setting is characterized by a wide range of life aspects, and those that constitute the specific profiles for each lifecycle phase are the ones that mainly bring about the gender differences between men and women


Assuntos
Humanos , Masculino , Feminino , Saúde de Gênero
20.
Rev. cuba. salud pública ; 36(1): 66-77, mar. 2010. tab, graf
Artigo em Espanhol | LILACS | ID: lil-548446

RESUMO

Los determinantes que diferencian biológica, sexual, cultural y socialmente a hombres y mujeres tienen implicaciones respecto a cómo y cuàles problemas de salud les afectan y sobre las intervenciones sanitarias que demandan. Tiene como objetivos identificar diferencias en los niveles de mortalidad entre mujeres y hombres en la población cubana en el año 2006. Se realizó un estudio descriptivo transversal utilizando las bases de datos de mortalidad de la Dirección Nacional de Estadísticas. Para obtener la información se calcularon las tasas de mortalidad específica por edad, sexo y años de vida potencialmente perdidos así como razones de tasas para las primeras causas de muerte. Se encontró que los hombres tuvieron una sobremortalidad en la mayoría de las principales causas de muerte, dejando de vivir màs prematuramente que las mujeres por un grupo de enfermedades crónicas, accidentes y lesiones autoinfligidas; la presencia de tumores malignos repercutió negativamente en ambos sexos. Existen diferencias entre hombres y mujeres a favor de estas últimas en relación con los años de vida potencialmente perdidos, aunque la brecha entre ambos sexos muestra tendencia negativa para la mujer


The determinants that differentiate men and women from the biological, sexual, cultural and social viewpoints have a bearing on what kind of health problems affect them and how as well as on the required health interactions. Objectives To identify those differences in mortality indexes between Cuban men and women in 2006. Methods A cross-sectional descriptive study using mortality index databases from the National Division of Statistics. Age-specific, sex-specific and potential years of life lost-specific mortality rates along with rate rations for the first causes of death were estimated to gather proper information. It was found that men had an overmortality rate in most of the main causes of death, and died earlier than women from a group of chronic diseases, accidents, self-inflicted lesions; additionally, malignant tumors negatively affected both sexes. There are differences between men and women that favor the latter with respect to potential years of life lost, although the gap between men and women shows negative tendency towards the women


Assuntos
Saúde de Gênero , Mortalidade
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