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1.
J Pediatr Nurs ; 75: 164-172, 2024.
Article in English | MEDLINE | ID: mdl-38160469

ABSTRACT

PURPOSE: To evaluate the self-reported perspectives of participants involved in the Previene Cádiz intervention for preventing pediatric overweight and obesity. DESIGN AND METHODS: This qualitative study collected information through the World Café technique. A purposive sample of 40 participants was used, of which 14 were schoolchildren, 12 were teachers, and 14 were parent volunteers. The data were segmented, and concepts were created and grouped into dimensions and categories. RESULTS: The participants confirmed they had learned new information and behaviors about healthy habits. Parental awareness was considered a crucial and necessary element in changing family habits; therefore, increasing the motivation of family members was deemed a critical task in public health interventions conducted in school settings. DISCUSSION: Despite the suitability of qualitative methodology to evaluate the perceptions of the main players in an educational intervention, scientific literature is scarce. Obtaining information from the educational community about an intervention is not always easy, so the perspectives of teachers, students, and families about the Previene Cádiz intervention through the World Café approach is considered a relevant contribution. CONCLUSIONS: The participants considered the intervention positive in terms of learning and fostering increased knowledge, awareness, and healthy behaviors. PRACTICE IMPLICATIONS: Future interventions should encourage the active participation of all social groups involved, integrating dynamic and collaborative training activities that are acceptable to all participants.


Subject(s)
Overweight , Pediatric Obesity , Child , Humans , Overweight/prevention & control , Obesity/prevention & control , Health Behavior , Family , Qualitative Research , Pediatric Obesity/prevention & control
2.
Eur Heart J Open ; 3(5): oead095, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37829559

ABSTRACT

Aims: The fragmentation and loss of elastic fibre in the tunica media of the aorta are pathological hallmarks of Marfan syndrome (MFS) but the dynamics of elastin degradation and its relationship to aortic size and physiological growth remain poorly understood. Methods and results: In this post hoc analysis of the AIMS randomized controlled trial, the association of plasma desmosine (pDES)-a specific biomarker of mature elastin degradation-with age and aortic size was analysed in 113 patients with MFS and compared to 109 healthy controls. There was a strong association between age and pDES in both groups, with higher pDES levels in the lower age groups compared to adults. During childhood, pDES increased and peaked during early adolescence, and thereafter decreased to lower adult levels. This trend was exaggerated in young individuals with MFS but in those above 25 years of age, pDES levels were comparable to controls despite the presence of aortic root dilation. In MFS children, increased aortic diameter relative to controls was seen at an early age and although the increase in diameter was less after adolescence, aortic root size continued to increase steadily with age. In MFS participants, there was an indication of a positive association between baseline pDES levels and aortic root dilatation during up to 5 years of follow-up. Conclusion: This study has shown that developmental age has a significant effect on levels of elastin turnover as measured by pDES in MFS individuals as well as healthy controls. This effect is exaggerated in those with MFS with increased levels seen during the period of physiologic development that plateaus towards adulthood. This suggests an early onset of pathophysiology that may present an important opportunity for disease-modifying intervention.

3.
Med. paliat ; 30(3): 146-152, Juli-Sep. 2023. tab, graf
Article in Spanish | IBECS | ID: ibc-232524

ABSTRACT

Objetivos: Conocer el grado de satisfacción de los cuidadores principales de pacientes fallecidos en relación con la prestación sanitaria recibida por un equipo de soporte en cuidados paliativos domiciliarios.Pacientes y métodos: Estudio descriptivo, transversal y observacional. Análisis de encuestas de satisfacción (agosto de 2019 a junio de 2022). Total de pacientes atendidos: 1157, y total de encuestas recibidas: 402. Se diseñó una encuesta de satisfacción que evaluó los siguientes ámbitos de intervención: tiempo de espera, trato recibido, competencia e información. Fue contestada una vez transcurrido un mes desde el fallecimiento. Se enviaron las encuestas a través de correo ordinario con franqueo pagado desde el hospital junto a una carta de condolencias.Resultados: Los pacientes fallecidos fueron 561 y respondieron la encuesta un total de 402 cuidadores (71,65 %) de los cuales un 61,19 % eran mujeres y un 63,5 % mayor de 60 años. La puntuación > 8 puntos en los 4 ítems fue otorgada en un 92,2 % en varones y en un 92,7 % en mujeres. El ítem mejor valorado tanto en hombres como en mujeres fue el trato recibido (97,4 y 96,7 %, respectivamente). La valoración global > 8 puntos fue de un 95,6 % en hombres y de un 96,7 % en mujeres.Conclusiones: Se percibe una satisfacción alta por parte de los cuidadores principales con respecto a la asistencia recibida en el domicilio. Las áreas de mejora detectadas por el equipo fueron sobre todo en lo que afecta al proceso y algo menos en los recursos de personal.(AU)


Objectives: To know the degree of satisfaction of the main caregivers of deceased patients in relation to the health care received from a support team in home palliative care.Patients and methods: A descriptive, cross-sectional, observational study. Analysis of satisfaction surveys (August 2019 to June 2022). Total number of patients attended: 1157, and total number of surveys received: 402. A satisfaction survey was designed that evaluated the following areas of intervention: waiting time, treatment received, competence and information. It was answered one month after the patient’s death. The surveys were sent via postage-paid regular mail from the hospital, together with a letter of condolences.Results: A total of 402 caregivers for 561 deceased patients (71.65 %) answered the survey; 61.19 % were women and 63.5 % were older than 60 years. A score > 8 points in the 4 items was awarded by 92.2 % of men and 92.7 % of women. The best valued item by both men and women was the treatment received (97.4 % and 96.7 %, respectively). Overall assessment > 8 points was 95.6 % for men and 96.7 % for women.Conclusions: A high satisfaction is perceived on the part of main caregivers with respect to the assistance received at home. Areas for improvement detected by the team included mainly aspects related to the process rather than personnel resources.(AU)


Subject(s)
Humans , Male , Female , Palliative Medicine , Palliative Care , Caregivers , Personal Satisfaction , Health Surveys , Cross-Sectional Studies , Epidemiology, Descriptive , Surveys and Questionnaires
4.
Acta méd. colomb ; 48(1)mar. 2023.
Article in English | LILACS-Express | LILACS | ID: biblio-1549977

ABSTRACT

Introduction: gastrointestinal involvement in COVID-19 occurs in approximately 20% of patients and may include nausea, vomiting, abdominal pain, diarrhea or abnormal liver function tests. In our country, the characteristics of gastrointestinal involvement in COVID-19 patients have not been studied. Objectives: to determine the prevalence of gastrointestinal and liver involvement in patients with COVID-19 treated at two hospitals in Bogotá, Colombia. To determine the association between COVID-19 gastrointestinal involvement and length of hospital stay, severity and mortality. Design and methodology: a cross-sectional study carried out at two hospitals in a hospital subnetwork in Bogotá, Colombia from February 2020 to March 2021. Results: a total of 1,176 patients with a positive reverse transcription polymerase chain reaction (RT-PCR) were included. Gastrointestinal manifestations occurred in 50% (95%CI 47-52%), with the most frequent being diarrhea in 18.4%, odynophagia in 17.6%, anorexia in 14.7% and abdominal pain in 8.8%. An association was found between diarrhea during hospitalization and prolonged hospitalization (OR 1.93 95%CI 1.19-3.13), and between gastrointestinal bleeding on admission and death (OR 3.13, 95%CI 1.1-9.1), among others. Abnormal liver function tests occurred in 46% (95%CI 43-49%) and were more frequent in patients with severe disease and those who died. Conclusions: the prevalence of gastrointestinal manifestations in patients with COVID-19 was 50%. Diarrhea was associated with a longer hospital stay, and gastrointestinal bleeding was associated with respiratory failure and death. Forty-six percent of patients had abnormal liver function tests, with elevated transaminases being the most frequent. Elevated aspartate transaminase (AST) on admission was associated with greater mortality. (Acta Med Colomb 2022; 48. DOI:https://doi.org/10.36104/amc.2023.2729).

5.
Stem Cell Reports ; 18(2): 555-569, 2023 02 14.
Article in English | MEDLINE | ID: mdl-36669494

ABSTRACT

Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutations in FBN1. Patients with MFS notably suffer from aortic aneurysm and dissection. Despite considerable effort, animal models have proven to be poorly predictive for therapeutic intervention in human aortic disease. Patient-derived induced pluripotent stem cells can be differentiated into vascular smooth muscle cells (VSMCs) and recapitulate major features of MFS. We have screened 1,022 small molecules in our in vitro model, exploiting the highly proteolytic nature of MFS VSMCs, and identified 36 effective compounds. Further analysis identified GSK3ß as a recurring target in the compound screen. GSK3ß inhibition/knockdown did not ameliorate the proliferation defect in MFS-VSMCs but improved MFS-VSMC proteolysis and apoptosis and partially rescued fibrillin-1 deposition. To conclude, we have identified GSK3ß as a novel target for MFS, forming the foundation for future work in MFS and other aortic diseases.


Subject(s)
Induced Pluripotent Stem Cells , Marfan Syndrome , Animals , Humans , Marfan Syndrome/genetics , Muscle, Smooth, Vascular , Aorta , Glycogen Synthase Kinase 3 beta
6.
Rev. clín. med. fam ; 15(3)Oct. 2022.
Article in Spanish | IBECS | ID: ibc-209848

ABSTRACT

Se presenta caso de mujer que dice que se come el pelo desde la infancia para lograr alivio momentáneo en situaciones estresantes.En la anamnesis, refiere antecedentes familiares con otros comportamientos compulsivos, incluyendo un familiar que también come pelo.Conclusiones: es clave una anamnesis bien estructurada que explore trastornos neurológicos y psiquiátricos bien definidos, así como el diseño de un árbol genealógico lo más exhaustivo posible para descartar implicaciones genéticas.Descartar trastornos dermatológicos con la dermatoscopia.Es fundamental concienciar a la paciente de posibles complicaciones y comorbilidades como las obstrucciones digestivas y avanzar la pobre eficacia de los tratamientos con psicofármacos.(AU)


There is a case of a woman who refers to eating her hair since childhood for momentary relief in response to stressful situations. In the anamnesis, she refers to a family history with other compulsive behaviors, including another member who also eats her hair.Conclusions: a well-structured history that explores well-defined neurological and psychiatric disorders as well as the design of a family tree as exhaustive as possible to rule out genetic implications is key.Rule out dermatological disorders with the help of dermoscopy.It´s essential to make the patient aware of possible complications, comorbidities such as digestive obstructions and advance the poor effectiveness of treatments with psychotropic drugs(AU)


Subject(s)
Humans , Female , Middle Aged , Trichotillomania/diagnosis , Trichotillomania/therapy , Stress, Psychological , Compulsive Behavior , Medical History Taking , Nervous System Diseases , Psychiatry , Addiction Medicine , Hair , Treatment Outcome , Inpatients , Physical Examination , Symptom Assessment , Family Practice
7.
Int J Cardiol ; 366: 1-9, 2022 11 01.
Article in English | MEDLINE | ID: mdl-35830949

ABSTRACT

OBJECTIVES: This study aims to identify the clinical utility of targeted-genetic sequencing in a cohort of patients with TAA and establish a new method for regional histological characterisation of TAA disease. METHODS: Fifty-four patients undergoing surgery for proximal TAA were recruited. EXCLUSIONS: connective tissue disease, bicuspid aortic valves, redo surgery. All patients underwent next generation sequencing (NGS) using a custom gene panel containing 63 genes previously associated with TAA on Illumina MiSeqor NextSeq550 platforms. Explanted TAA tissue was obtained en-bloc from 34/54 patients, and complete circumferential strips of TAA tissue processed into whole slides which were subsequently digitalised. Computational pathology methods were employed to quantify elastin, cellularity and collagen in six equally divided regions across the whole aneurysm circumference. RESULTS: Of 54 patients, clearly pathogenic or potentially pathogenic variants were found in 7.4%: namely LOX, PRKG1, TGFBR1 and SMAD3 genes. 55% had at least one variant of unknown significance (VUS) and seven of the VUSs were in genes with a strong disease association (category A) genes, whilst 15 were from moderate risk (category B) genes. Elastin and collagen abundance displayed high regional variation throughout the aneurysm circumference. In patients with <60% total elastin, the loss of elastin was more significant on the outer curve (38.0% vs 47.4%, p = 0.0094). The presence of VUS, higher pulse wave velocity and advancing age were predictors of elastin loss (regression analysis: p < 0.05). CONCLUSIONS: These findings demonstrate the heterogeneity of TAA disease microstructure and the potential link between histological appearance and clinical factors, including genetic variation.


Subject(s)
Aortic Aneurysm, Thoracic , Bicuspid Aortic Valve Disease , Aortic Aneurysm, Thoracic/diagnosis , Aortic Aneurysm, Thoracic/genetics , Aortic Aneurysm, Thoracic/pathology , Collagen , Elastin/genetics , Humans , Pulse Wave Analysis
8.
Rev. esp. patol. torac ; 34(2): 115-120, 23/06/2022. ilus, tab, graf
Article in Spanish | IBECS | ID: ibc-206175

ABSTRACT

Objetivo: Comparar los cambios en la actividad electromiográfica y oxigenación muscular periférica de los músculos intercostales, en su condición de musculatura accesoria a la respiración, en pacientes con EPOC durante la realización de un test de marcha de 6 minutos (TM6M) con y sin el uso de un dispositivo FeelBreathe (FB).Material y métodos: Se seleccionaron a 20 sujetos diagnosticados de EPOC a los que se les realizaron dos TM6M separados al menos por 60 minutos. Aleatoriamente, cada uno de los pacientes realizó dos TM6M, uno usando el dispositivo FB y el otro sin FB (SFB) y se midieron durante la realización de ambos TM6M la actividad electromiográfica (EMG) obteniéndose la raíz de la media cuadrática (RMS), y por otro lado la oxigenación tisular de los músculos intercostales a través de la variable de oxihemoglobina (HbO2).Resultados: No hubo diferencias significativas en la distancia recorrida en ambos TM6M con FC a SFB. Tanto la RMS como la oxigenación tisular mostraron valores similares entre la condición FB vs. SFB al final de ambas pruebas (32,26 ± 101,94 μV vs 28,25 ± 87,02 μV; p = 0,16 y 70,63 ± 18,80 vs 70,74 ± 16,77; p = 0,975 respectivamente).Conclusiones: El estímulo de trabajo de la musculatura intercostal durante el TM6M con el dispositivo FB no compromete la aparición de la fatiga temprana por un exceso de activación o disminución de la oxigenación de dichos músculos al nivel de intensidad del TM6M. (AU)


Objective: To compare changes in electromyographic activity and peripheral muscle oxygenation of the intercostal muscles, in their condition as accessory muscles for respiration, in patients with COPD during a 6-minute walk test (6MWT) with and without the use of a FeelBreathe (FB) device.Material and methods: 20 subjects diagnosed with COPD who underwent two 6MTMs separated by at least 60 minutes were selected. Randomly, each of the patients underwent two 6MWT, one using the FB device and the other without FB (SFB) and electromyographic activity (EMG) was measured during the performance of both 6MWT, obtaining the root mean square (RMS), and on the other hand, tissue oxygenation of the intercostal muscles through the oxyhemoglobin (HbO2) variable.Results: There were no significant differences in the distance traveled in both 6MWT with HR to SFB. Both RMS and tissue oxygenation showed similar values between the FB condition vs. SFB at the end of both tests (32.26 ± 101.94 μV vs 28.25 ± 87.02 μV; p = 0.16 and 70.63 ± 18.80 vs 70.74 ± 16.77; p = 0.975 respectively).Conclusions: The work stimulus of the intercostal muscles during the 6MWT with the FB device does not compromise the appearance of early fatigue due to excessive activation or decreased oxygenation of these muscles at the intensity level of the 6MWT. (AU)


Subject(s)
Humans , Male , Female , Adult , Lung Diseases, Obstructive , Breathing Exercises , Exercise , Oxygenation , Electromyography , Pulmonary Disease, Chronic Obstructive
9.
Nutrients ; 14(6)2022 Mar 12.
Article in English | MEDLINE | ID: mdl-35334863

ABSTRACT

(1) Background: Lifestyle behaviours and physical fitness play a critical role in the development of childhood obesity. It has been demonstrated in this study that self-reported physical fitness is representative of a healthy lifestyle and thus is associated with a lower incidence of overweight/obesity. The objective of this study was to analyse the independent and combined association of lifestyles (physical activity, screen time, diet and hours of sleep) and self-reported physical fitness with body weight in schoolchildren. (2) Methods: This study performed a descriptive and cross-sectional analysis. The study sample consisted of 864 schoolchildren between 8−9 years old from 26 schools of the province of Cádiz. To measure lifestyles and self-reported physical fitness, questionnaires were administered to both schoolchildren and families. To obtain the body weight status, the children were measured by body mass index (BMI). To verify the influence of lifestyles and self-reported physical fitness on the body weight status of schoolchildren, a combined score of lifestyles and self-reported physical fitness was calculated. (3) Results: Schoolchildren who followed healthier lifestyles and presented good physical fitness had a better body weight status (p < 0.001). Schoolchildren who had less healthful lifestyles and bad physical fitness had a 10.34 times higher risk of being overweight or obese (p = 0.004). (4) Conclusions: It has been shown that there is an independent and combined association between lifestyles and physical fitness on the body weight of the schoolchildren. We have suggested strategies to get children to adopt healthy lifestyles and good physical fitness to maintain a healthy body weight and prevent obesity.


Subject(s)
Pediatric Obesity , Body Weight , Child , Cross-Sectional Studies , Healthy Lifestyle , Humans , Pediatric Obesity/epidemiology , Pediatric Obesity/prevention & control , Physical Fitness
10.
Comunidad (Barc., Internet) ; 24(4)2022. ilus, tab
Article in Spanish | IBECS | ID: ibc-212328

ABSTRACT

Objetivo: Foro de encuentro multidisciplinar y multinstitucional con el objeto de:Analizar la situación sociosanitaria de los poblados marginales.Priorizar las necesidades e intervenciones.Elaborar documentos y guías de actuación.Coordinar recursos y trabajar en red.Investigación y docencia.Empoderar y sensibilizar a la sociedad de realidades no conocidas o ignoradas.Desarrollo. La Comisión de Población Excluida de Villa de Vallecas surge a propuesta del Consejo de Salud de Villa de Vallecas en 1998, y desde entonces ha estado liderada por la Gerencia de Atención Primaria del Área 1 de Madrid. Supone una experiencia única de intervención comunitaria.Resultados. Se han realizado intervenciones en cinco asentamientos marginales: El Pozo del Huevo, La Celsa, La Rosilla, Las Barranquillas y La Cañada Real hasta su desmantelamiento y realojo en los cuatro primeros.Conclusiones. Se trata de un foro que ha permitido acceder a poblaciones que están absolutamente al margen de cualquier red normalizada sociosanitaria, constituyendo una verdadera red de trabajo y diseñando estrategias de intervención novedosas. (AU)


Subject(s)
Humans , Social Marginalization , Primary Health Care , Health
12.
Genes (Basel) ; 12(7)2021 07 01.
Article in English | MEDLINE | ID: mdl-34356048

ABSTRACT

Adolescent idiopathic scoliosis (AIS) is a complex common disorder of multifactorial etiology defined by a deviation of the spine in three dimensions that affects approximately 2% to 4% of adolescents. Risk factors include other affected family members, suggesting a genetic component to the disease. The POC5 gene was identified as one of the first ciliary candidate genes for AIS, as three variants were identified in large families with multiple members affected with idiopathic scoliosis. To assess the prevalence of p.(A429V), p.(A446T), and p.(A455P) POC5 variants in patients with AIS, we used next-generation sequencing in our cohort of French-Canadian and British families and sporadic cases. Our study highlighted a prevalence of 13% for POC5 variants, 7.5% for p.(A429V), and 6.4% for p.(A446T). These results suggest a higher prevalence of the aforementioned POC5 coding variants in patients with AIS compared to the general population.


Subject(s)
Carrier Proteins/genetics , Genetic Variation , Scoliosis/genetics , Adolescent , Canada , Carrier Proteins/classification , Cohort Studies , High-Throughput Nucleotide Sequencing , Humans , Pedigree , Prevalence , Risk Factors , Scoliosis/epidemiology , Exome Sequencing
14.
Sci Rep ; 11(1): 11026, 2021 05 26.
Article in English | MEDLINE | ID: mdl-34040021

ABSTRACT

Idiopathic scoliosis (IS) is a complex 3D deformation of the spine with a strong genetic component, most commonly found in adolescent girls. Adolescent idiopathic scoliosis (AIS) affects around 3% of the general population. In a 5-generation UK family, linkage analysis identified the locus 9q31.2-q34.2 as a candidate region for AIS; however, the causative gene remained unidentified. Here, using exome sequencing we identified a rare insertion c.1569_1570insTT in the tubulin tyrosine ligase like gene, member 11 (TTLL11) within that locus, as the IS causative gene in this British family. Two other TTLL11 mutations were also identified in two additional AIS cases in the same cohort. Analyses of primary cells of individuals carrying the c.1569_1570insTT (NM_194252) mutation reveal a defect at the primary cilia level, which is less present, smaller and less polyglutamylated compared to control. Further, in a zebrafish, the knock down of ttll11, and the mutated ttll11 confirmed its role in spine development and ciliary function in the fish retina. These findings provide evidence that mutations in TTLL11, a ciliary gene, contribute to the pathogenesis of IS.


Subject(s)
Genetic Linkage , Scoliosis , Spine , Adolescent , Cohort Studies , Female , Genetic Predisposition to Disease , Humans , Phenotype , Polymorphism, Single Nucleotide , United Kingdom
15.
Article in English | MEDLINE | ID: mdl-33567730

ABSTRACT

This paper describes the protocol for a study designed to address the high prevalence (40%) of childhood overweight and obesity in the province of Cádiz, Spain, as a reflection of what is happening worldwide. It is widely known that children who suffer from childhood obesity have a higher risk of developing chronic diseases in adulthood. This causes a decrease in the quality of life and an increase in health spending. In this context, it is necessary to intervene promoting healthy lifestyle habits from an early stage. The objective of this project will be to evaluate the effectiveness of a multimodal intervention (individual, school and family) called "PREVIENE-CÁDIZ" [CADIZ-PREVENT]. The intervention will be focused mainly on diet, physical activity, sedentary lifestyle and sleep, to prevent overweight and obesity in schoolchildren from 8 to 9 years old in the province of Cádiz. It will consist of a 10-session education program carried out in the classroom by the teachers. In addition, children will be assigned two workbooks, one to work on in class and the other at home with parents. A workshop aimed at parents will be included to help teach them how to obtain healthier lifestyle habits. The proposed study will involve a quasi-experimental design with a control group.


Subject(s)
Pediatric Obesity , Quality of Life , Adult , Child , Exercise , Health Promotion , Humans , Overweight/prevention & control , Pediatric Obesity/epidemiology , Pediatric Obesity/prevention & control , Spain/epidemiology
16.
Article in English | MEDLINE | ID: mdl-33477587

ABSTRACT

This study compared the response of a 9-week cycling training on ventilatory efficiency under two conditions: (i) Combined with respiratory muscle training (RMT) using a new nasal restriction device (FeelBreathe) (FB group) and (ii) without RMT (Control group). Eighteen healthy elite cyclists were randomly separated into the FB group (n = 10) or Control group (n = 8). Gas exchange was measured breath by breath to measure ventilatory efficiency during an incremental test on a cycloergometer before (Pre) and after (Post) the nine weeks of training. The FB group showed higher peak power (Δ (95%HDI) (0.82 W/kg (0.49, 1.17)), VO2max (5.27 mL/kg/min (0.69, 10.83)) and VT1 (29.3 W (1.8, 56.7)) compared to Control at PostFINAL. The FB group showed lower values from Pre to PostPRE in minute ventilation (VE) (-21.0 L/min (-29.7, -11.5)), Breathing frequency (BF) (-5.1 breaths/min (-9.4, -0.9)), carbon dioxide output (VCO2) (-0.5 L/min (-0.7, -0.2)), respiratory equivalents for oxygen (EqO2) (-0.8 L/min (-2.4, 0.8)), heart rate (HR) (-5.9 beats/min (-9.2, -2.5)),, respiratory exchange ratio (RER) (-0.1 (-0.1, -0.0) and a higher value in inspiratory time (Tin) (0.05 s (0.00, 0.10)), expiratory time (Tex) (0.11 s (0.05, 0.17)) and end-tidal partial pressure of CO2 (PETCO2) (0.3 mmHg (0.1, 0.6)). In conclusion, RMT using FB seems to be a new and easy alternative ergogenic tool which can be used at the same time as day-to-day training for performance enhancement.


Subject(s)
Exercise , Respiration , Breathing Exercises , Carbon Dioxide , Exercise Test , Oxygen Consumption , Respiratory Function Tests
17.
Ther Adv Rare Dis ; 2: 26330040211055738, 2021.
Article in English | MEDLINE | ID: mdl-37181104

ABSTRACT

Marfan syndrome (MFS) is an autosomal dominantly inherited disorder affecting the cardiovascular, ocular and musculoskeletal systems. Frequently, clinical suspicion and subsequent diagnosis begins in the ophthalmology clinic. Importantly, the ophthalmologist has a responsibility to cater not only to the eye, but also to be involved in a holistic approach for these patients. In this review, we discuss how MFS may present to an eye clinic, including clinical features, ocular morbidity, genetic diagnosis and management. Although this condition is ideally managed by a multidisciplinary team, our focus will be on MFS and the eye, including other conditions which may present with similar phenotypes. The ophthalmologist's role as the potential first contact for a patient with suspected MFS is crucial in making the proper investigations and referral, with the knowledge that not all ectopia lentis cases are MFS and vice versa. Management of ocular conditions in MFS may range from simple observation to surgical intervention; current options will be discussed.


Eye problems in Marfan Syndrome ­ A Review Marfan syndrome (MFS) is an inherited disorder that affects many systems of the body, including the heart, joints, skeleton, skin and eyes. Although the more dangerous problems caused by this are to do with the heart and blood vessels, it is quite often that such patients are first found by eye doctors. They are either seen due to being very short-sighted or with dislocated lenses which can cause major problems in the eye. Eye problems can be managed by regular observation, although they often require surgery. Because eye doctors are often the first to see these patients, they must involve other doctors of different specialities to help in diagnosing and managing important issues these patients may have, especially affecting the heart and major blood vessels. Confirmation of diagnosis is done through genetic testing, which has advanced greatly, finding new mutations which may contribute to this disorder. Genetic counselling services can help families in understanding their diagnosis and making better informed decisions about future family planning as well as screening other family members. The eye is just one part of this complex genetic disease. We look in detail at how eye doctors can best approach such patients.

18.
Rev. esp. drogodepend ; 46(3): 10-22, 2021. tab, graf
Article in Spanish | IBECS | ID: ibc-232751

ABSTRACT

Los modelos de patología dual suelen considerar a los trastornos por uso de sustancias (TUS) y al resto de trastornos mentales como dos entidades nosológicas que coinciden en una misma persona. Este estudio adopta un punto de partida diferente y estima que la adictividad sería una novena dimensión clínica independiente en los trastornos psicóticos, que se añadiría a las de alucinaciones, delirio, habla desorganizada, conducta psicomotriz anormal, síntomas negativos, déficit cognitivo, depresión y manía. Todas ellas derivarían, en último término, de una disfunción fronto-subcortical común con implicación dopaminérgica, glutamatérgica y gabaérgica. Se presenta la Escala de Evaluación de la Adictividad en el Síndrome Psicótico (EASP), que busca ser un instrumento integrado y sencillo para la evaluación de la adictividad en los trastornos psicóticos. Se basa en la recogida de datos sobre el primer uso, el tiempo de consumo, el último consumo, la frecuencia de consumo y la intensidad de la adicción de doce tipos de sustancias o conductas adictivas. Los resultados de la aplicación de la EASP a una muestra de 105 sujetos psicóticos sugieren unas buenas características psicométricas, así como la independencia de la adictividad respecto a otras dimensiones clínicas. (AU)


Models of dual pathology habitually consider substance-use disorders (SUD) and the rest of mental disorders as two pathological conditions coincident in a same person. This study adopts a different point of view and accept adictivity as the nineth clinical dimension in the psychotic disorders to be added to hallucinations, delusion, disorganised speech, abnormal psychomotor behaviour, negative symptoms, cognitive deficit, depression, and mania. In the last term, all of them seems to derive from a common fronto-subcortical disfunction with dopaminergic, glutamatergic and gabaergic implication. The Addictiveness in the Psychotic Syndrome Assessment Scale (APSAS) is presented. It wants to be an integrated and easy to use tool for evaluating adictivity in the psychotic disorders. It is based in data collected with respect of first use, length of use, last use, frequency of use and addiction intensity regarding twelve types of substances or addictive behaviours. Results of the application of APSAS on a sample of 105 psychotic subjects suggest good psychometric characteristics as well as the independency of adictivity respect with other clinical dimensions. (AU)


Subject(s)
Humans , Male , Female , Young Adult , Adult , Middle Aged , Diagnosis, Dual (Psychiatry)/methods , Diagnosis, Dual (Psychiatry)/psychology , Diagnosis, Dual (Psychiatry)/trends , Psychotic Disorders , Substance-Related Disorders/diagnosis , Substance-Related Disorders/therapy , Mental Disorders
19.
Rev. esp. drogodepend ; 46(3): 48-59, 2021. tab, graf
Article in English | IBECS | ID: ibc-232752

ABSTRACT

Models of dual pathology habitually consider substance-use disorders (SUD) and the rest of mental disorders as two pathological conditions coincident in a same person. This study adopts a different point of view and accept adictivity as the nineth clinical dimension in the psychotic disorders to be added to hallucinations, delusion, disorganised speech, abnormal psychomotor behaviour, negative symptoms, cognitive deficit, depression, and mania. In the last term, all of them seems to derive from a common fronto-subcortical disfunction with dopaminergic, glutamatergic and gabaergic implication. The Addictiveness in the Psychotic Syndrome Assessment Scale (APSAS) is presented. It wants to be an integrated and easy to use tool for evaluating adictivity in the psychotic disorders. It is based in data collected with respect of first use, length of use, last use, frequency of use and addiction intensity regarding twelve types of substances or addictive behaviours. Results of the application of APSAS on a sample of 105 psychotic subjects suggest good psychometric characteristics as well as the independency of adictivity respect with other clinical dimensions. (AU)


Los modelos de patología dual suelen considerar a los trastornos por uso de sustancias (TUS) y al resto de trastornos mentales como dos entidades nosológicas que coinciden en una misma persona. Este estudio adopta un punto de partida diferente y estima que la adictividad sería una novena dimensión clínica independiente en los trastornos psicóticos, que se añadiría a las de alucinaciones, delirio, habla desorganizada, conducta psicomotriz anormal, síntomas negativos, déficit cognitivo, depresión y manía. Todas ellas derivarían, en último término, de una disfunción fronto-subcortical común con implicación dopaminérgica, glutamatérgica y gabaérgica. Se presenta la Escala de Evaluación de la Adictividad en el Síndrome Psicótico (EASP), que busca ser un instrumento integrado y sencillo para la evaluación de la adictividad en los trastornos psicóticos. Se basa en la recogida de datos sobre el primer uso, el tiempo de consumo, el último consumo, la frecuencia de consumo y la intensidad de la adicción de doce tipos de sustancias o conductas adictivas. Los resultados de la aplicación de la EASP a una muestra de 105 sujetos psicóticos sugieren unas buenas características psicométricas, así como la independencia de la adictividad respecto a otras dimensiones clínicas. (AU)


Subject(s)
Humans , Male , Female , Young Adult , Adult , Middle Aged , Diagnosis, Dual (Psychiatry)/methods , Diagnosis, Dual (Psychiatry)/psychology , Diagnosis, Dual (Psychiatry)/trends , Psychotic Disorders , Substance-Related Disorders/diagnosis , Substance-Related Disorders/therapy , Mental Disorders
20.
Rev. esp. drogodepend ; 46(3): 36-47, 2021. tab, graf
Article in Spanish | IBECS | ID: ibc-232757

ABSTRACT

El déficit cognitivo es uno de los principales predictores pronósticos de la esquizofrenia, especialmente el déficit de la memoria verbal. La relación de causalidad entre el uso de sustancias, los trastornos por uso de sustancias y el síndrome psicótico es probablemente multidireccional y aún está sujeto a diversos posibles factores de confusión. La Escala de Evaluación de la Adictividad en el Síndrome Psicótico (EASP) evalúa de manera global la dimensión de adictividad atendiendo a todos estos factores: inicio, frecuencia, duración e intensidad. El objetivo del estudio es conocer si la dimensión de adictividad se asocia al déficit de memoria verbal. Para ello se compara un grupo de sujetos psicóticos que presentaban déficit de memoria (n= 47) y un grupo control de sujetos psicóticos sin déficit de memoria (n= 58) y se comprueba una mayor adictividad en el primer grupo. Según nuestros resultados, una puntuación en EASP > 55 es indicador de posible déficit de memoria. Esta medición puede aportar información relevante sobre el estado actual, evolución y pronóstico de los pacientes con comorbilidad de psicosis y adicción. (AU)


Cognitive deficit is one of the main prognostic predictors in schizophrenia, mainly the deficit in verbal memory. The causal relationship between substances use, substance use disorders and psychotic syndrome is probably multidirectional and still is under the possible effect of confusion factors. The Addictiveness in the Psychotic Syndrome Assessment Scale (APSAS) evaluates in a global mode the dimension of adictivity taking in account all these factors: beginning, frequency, length, and intensity. The objective of the study is to know if the dimension of adictivity is associated to memory disorders. A group of psychotic subjects with memory deficits (n = 47) and a control group of psychotic subjects without memory deficits (n = 58) are compared obtaining a major adictivity in the first group. According to our results, the score of APSAS > 55 indicates possible memory deficits. This measuring can provide relevant information on the actual state, evolution and prognose of patients with comorbidity of psychosis and addiction. (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Substance-Related Disorders , Schizophrenia , Comorbidity , Memory Disorders , Psychotic Disorders
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