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1.
Biomed Pharmacother ; 175: 116725, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38744219

RESUMO

Qualitative alterations in type I collagen due to pathogenic variants in the COL1A1 or COL1A2 genes, result in moderate and severe Osteogenesis Imperfecta (OI), a rare disease characterized by bone fragility. The TGF-ß signaling pathway is overactive in OI patients and certain OI mouse models, and inhibition of TGF-ß through anti-TGF-ß monoclonal antibody therapy in phase I clinical trials in OI adults is rendering encouraging results. However, the impact of TGF-ß inhibition on osteogenic differentiation of mesenchymal stem cells from OI patients (OI-MSCs) is unknown. The following study demonstrates that pediatric skeletal OI-MSCs have imbalanced osteogenesis favoring the osteogenic commitment. Galunisertib, a small molecule inhibitor (SMI) that targets the TGF-ß receptor I (TßRI), favored the final osteogenic maturation of OI-MSCs. Mechanistically, galunisertib downregulated type I collagen expression in OI-MSCs, with greater impact on mutant type I collagen, and concomitantly, modulated the expression of unfolded protein response (UPR) and autophagy markers. In vivo, galunisertib improved trabecular bone parameters only in female oim/oim mice. These results further suggest that type I collagen is a tunable target within the bone ECM that deserves investigation and that the SMI, galunisertib, is a promising new candidate for the anti-TGF-ß targeting for the treatment of OI.


Assuntos
Colágeno Tipo I , Regulação para Baixo , Células-Tronco Mesenquimais , Osteogênese Imperfeita , Osteogênese , Pirazóis , Quinolinas , Osteogênese Imperfeita/genética , Osteogênese Imperfeita/tratamento farmacológico , Osteogênese/efeitos dos fármacos , Osteogênese/genética , Animais , Humanos , Células-Tronco Mesenquimais/efeitos dos fármacos , Células-Tronco Mesenquimais/metabolismo , Regulação para Baixo/efeitos dos fármacos , Colágeno Tipo I/genética , Colágeno Tipo I/metabolismo , Feminino , Quinolinas/farmacologia , Camundongos , Criança , Pirazóis/farmacologia , Masculino , Diferenciação Celular/efeitos dos fármacos , Mutação , Modelos Animais de Doenças , Receptor do Fator de Crescimento Transformador beta Tipo I/metabolismo , Receptor do Fator de Crescimento Transformador beta Tipo I/genética , Pré-Escolar , Células Cultivadas , Fator de Crescimento Transformador beta/metabolismo , Resposta a Proteínas não Dobradas/efeitos dos fármacos , Transdução de Sinais/efeitos dos fármacos
2.
Psicol. conduct ; 32(1): 89-109, Abr 1, 2024. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-232223

RESUMO

La depresión postsíndrome coronario agudo (post-SCA) aumenta el riesgo cardíaco; sin embargo, la eficacia de las terapias antidepresivas para su tratamiento no está suficientemente demostrada. Nuestro objetivo es metaanalizar ensayos controlados con muestras homogéneas que permitan explicar la inconsistencia de los resultados obtenidos hasta el momento. Tras revisar 1525 artículos, dos revisores independientes identificaron 7 estudios que cumplían criterios muy restrictivos para asegurar la homogeneidad de las muestras. Los resultados indicaron que los pacientes tratados con intervenciones de eficacia demostrada para la depresión reducen sus niveles de trastorno depresivo significativamente más que los sujetos sin este tratamiento, y que existen diferencias significativas en el número de pacientes que reducen los síntomas depresivos de forma clínicamente relevante. Además, se observaron menos eventos cardiovasculares adversos durante el tratamiento, aunque esta diferencia fue mínimamente significativa y no se mantuvo tras el seguimiento. Estos resultados sugieren que la inconsistencia de los datos actualmente disponibles podría deberse a dificultades metodológicas que evidencian la necesidad de nuevas investigaciones que aclaren el efecto del tratamiento de la depresión sobre el pronóstico post-SCA.(AU)


Depression post-acute coronary syndrome (ACS) increases the cardiac risk;however, the efficacy of antidepressant therapies for its treatment has not beensufficiently demonstrated. Our aim is to meta-analyze controlled trials withhomogeneous samples that allow us to explain the inconsistency of the resultsobtained so far. After reviewing 1525 articles, two independent reviewersidentified 7 studies that met very restrictive criteria to ensure homogeneity of thesamples. The results indicated that patients treated with interventions of provenefficacy for the depression, reduce their levels of depressive disorder significantlymore than subjects without this treatment and that there are significantdifferences in the number of patients who reduce depressive symptoms in clinically relevant way. In addition, fewer adverse cardiovascular events wereobserved during treatment, although this difference was minimally significant andwas not maintained after the follow-up. These results suggest that theinconsistency of the currently available data could be due to methodologicaldifficulties evidencing the need for further research to clarify the effect ofdepression treatment on post-ACS prognosis.K EY WORDS : coronary heart disease, acute coronary syndrome, depressiontreatment, meta-analysis.(AU)


Assuntos
Humanos , Masculino , Feminino , Síndrome Coronariana Aguda/psicologia , Depressão , Síndrome Coronariana Aguda/tratamento farmacológico , Antidepressivos , Terapêutica
3.
Digit Health ; 10: 20552076241233139, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38384369

RESUMO

Background: Due to the accessibility barriers of in-person programs for active aging, the development of programs that use innovative technologies is needed. Video games can be an engaging tool for disseminating active aging interventions. Objective: The objective of this pilot study was to analyze the feasibility of a cognitive-behavioral intervention to promote active aging administered through a video game. Methods: Fifty-five participants (63.6% women, mean age = 53.0 years) were randomly assigned to a cognitive-behavioral intervention to promote active aging administered through an interactive multimedia online video game with a complementary app (CBI-V; n = 29) or to a control group that received nonspecific online information (CG; n = 26). Results: Only 3.6% of the participants dropped out of the study (6.9% in CBI-V and 0.0% in CG; without significant differences between groups). The mean number of modules completed was 7.6 (SD = 0.9) out of 8 in the CBI-V and 7.9 (SD = 0.5) in the control group (CG), without significant between-group differences. In the CBI-V, the mean total time dedicated to the game was 516.8 min (SD = 94.3), including 143.2 min (SD = 31.6) of cognitive training tasks, and the mean of completed tasks was 206.2 (SD = 33.7) out of 259. Participants were highly engaged (M = 39.9, SD = 8.6) and satisfied (M = 25.8, SD = 4.5) with the intervention. After the intervention, the CBI-V group significantly improved on SF-36 dimensions of General Health (p = .0386), Vitality (p = .0283), Social Functioning (p = .0130), and Physical Summary Index (p = .0370) compared to the CG, with medium effect sizes (d = 0.56-0.75). Conclusions: The results demonstrate the feasibility of the video game intervention to promote active aging and encourage conducting a large-scale randomized controlled trial.

4.
Healthcare (Basel) ; 10(12)2022 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-36553958

RESUMO

This case-control study analyzed the sleep disturbance, psychological distress and perceived burden in female family caregivers of dependent people with dementia (n = 74) compared with female family caregivers of dependent people without dementia (n = 74) and with age-matched non-caregiver control females (n = 74). Participants completed the Pittsburgh Sleep Quality Index (PSQI), the 12-item General Health Questionnaire (GHQ-12), the Caregiver Burden Inventory (CBI) and an ad hoc questionnaire to collect sociodemographic data. There were significant differences between the groups in PSQI total (F = 24.93; p < 0.001), psychological distress (F = 26.71; p < 0.001) and in all sleep domains assessed: subjective sleep quality (F = 16.19; p < 0.001), sleep latency (F = 9.5; p< 0.001), sleep duration (F = 18.57; p < 0.001), habitual sleep efficiency (F = 19.77; p < 0.001), sleep disturbances (F = 9.22; p < 0.001), use of sleep medications (F = 4.24; p< 0.01) and daytime dysfunction (F = 5.57; p < 0.01). In all measures, the female family caregivers of dependent people with dementia showed the significantly higher mean scores. Regarding the two groups of female caregivers, statistically significant differences were found in daily hours of care (t = −2.45; p < 0.05) and perceived burden (t = −3.65; p < 0.001), as well as in the following dimensions of caregiver burden: time-dependence burden (t = −5.09; p < 0.001), developmental burden (t = −2.42; p < 0.05) and physical burden (t = −2.89; p < 0.01). These findings suggest that female family caregivers of dependent patients with dementia should be subject to psychopathological screening and preventive cognitive-behavioral interventions in clinical practice in primary health care.

5.
J Clin Med ; 11(3)2022 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-35160171

RESUMO

This study aimed to determine the prevalence and associated factors of poor sleep quality in non-professional caregivers. With this purpose, cross-sectional data were collected from 201 dependent people's family caregivers using the Pittsburgh Sleep Quality Index (PSQI), the Caregiver Burden Inventory (CBI), the General Health Questionnaire (GHQ-12), and an ad hoc questionnaire to obtain sociodemographic data. A total of 153 family caregivers were categorized as poor sleepers (PSQI > 5), resulting in a prevalence of poor sleep quality of 76.1% (95% CI = 70.5-82.5). Poor sleepers were more likely to care for persons with mental disorders (χ2 = 7.31; p < 0.01) and scored significantly higher on perceived burden (z = -4.44; p < 0.001), psychological distress (z = -6.24; p < 0.001), and in all the PSQI subscales (p < 0.001), compared with good sleepers (PSQI ≤ 5). By contrast, no differences were found between poor and good sleepers in age, gender, years providing care, and daily hours of care. Multiple linear regression analysis showed that the factors of caregiver burden (ß = 0.15; p < 0.05) and psychological distress (ß = 0.53; p < 0.001) were significantly associated with sleep quality in dependent people's family caregivers. Cognitive-behavioral strategies to improve sleep quality in the primary health care of family caregivers are suggested.

6.
Healthcare (Basel) ; 11(1)2022 Dec 26.
Artigo em Inglês | MEDLINE | ID: mdl-36611528

RESUMO

Although sleep issues are among the symptoms commonly experienced by the non-professional caregiver population, and the Pittsburgh Sleep Quality Index (PSQI) is the most widely used instrument for the assessment of sleep quality, this has not been validated specifically for this population. The objective of this study was to analyze the factorial structure and psychometric properties of the Spanish version of the PSQI in a sample of Spanish non-professional caregivers. Trained clinical psychologists assessed sleep quality using the PSQI, as well as caregiver burden and psychological distress in 201 non-professional caregivers (87.1% female, Mage = 56.2 years). The internal consistency of the PSQI was 0.75. The two-factor model (Sleep quality and Disturbances) had an acceptable fit to the data, was found to be superior to the one-factor model, and more parsimonious than the three-factor model. There was a significant correlation between the PSQI and caregiver burden, as well as between the PSQI and psychological distress (p < 0.001 in all cases). A total score ≥ 9 allowed the identification of caregivers with possible anxiety and depression disorders (sensitivity 70.5%, specificity 71.9%). The results show that the PSQI is a reliable and valid instrument for the assessment of sleep quality in caregivers.

7.
Artigo em Inglês | MEDLINE | ID: mdl-31487902

RESUMO

Dyssynergic defecation is a usual cause of chronic constipation in elderly women, with a negative impact on health-related quality of life. The present randomized controlled trial aims to evaluate the effects of behavioral treatment through electromyographic biofeedback (EMG-BF) on quality of life and bowel symptoms in elderly women with dyssynergic defecation. Twenty chronically constipated elderly women, due to dyssynergic defecation, were enrolled in the study. Outcome measures included weekly stool frequency, anismus index, severity of patient-reported chronic constipation symptoms (abdominal, rectal, and stool symptoms), and overall measure of quality of life. After 1 month of baseline, participants were randomly assigned to either EMG-BF group (n = 10) or control group (n = 10). Three months after treatment, female patients were once again assessed following the same procedure in baseline. One-way multivariate analysis of variance MANOVA revealed no significant differences between the groups before treatment in any of the measured dependent variables (Wilks's λ = 0.74; F6,13 = 0.77; p = 0.61). Likewise, univariate analysis showed no differences between the groups, either in terms of age (F1,18 = 0.96; p = 0.34) or mean disease duration (F1,18 = 2.99; p = 0.11). Three months after treatment, MANOVA revealed statistically significant differences between the groups (Wilks's λ = 0.29; F6,13 = 5.19; p < 0.01). These differences were significant in all outcome measures. EMG-BF produces significant improvements in bowel symptoms and health-related quality of life of elderly women with dyssynergic defecation.


Assuntos
Ataxia/terapia , Biorretroalimentação Psicológica/métodos , Constipação Intestinal/terapia , Eletromiografia , Idoso , Idoso de 80 Anos ou mais , Terapia Comportamental , Defecação , Feminino , Humanos , Qualidade de Vida , Resultado do Tratamento
8.
J Clin Med ; 8(7)2019 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-31336559

RESUMO

This study examined the relationship between caregiver burden and sleep quality in dependent people's family caregivers. A cross-sectional study was carried out with 201 dependent people's family caregivers and 92 non-caregivers controls. Participants completed the Pittsburgh Sleep Quality Index (PSQI), the Caregiver Burden Inventory (CBI), and an ad-hoc questionnaire to collect sociodemographic data. Based on CBI scores, subjects were categorized into three groups: family caregivers with high levels of perceived burden, family caregivers with low and medium levels of perceived burden and non-caregiver controls. There were significant differences among the groups in the PSQI total (F = 40.39; p < 0.001), subjective sleep quality (F = 25.55; p < 0.001), sleep latency (F = 16.99; p < 0.001), sleep disturbances (F = 14.90; p < 0.001), use of sleep medications (F = 6.94; p < 0.01) and daytime dysfunction (F = 20.12; p < 0.001). These differences were found only between the caregivers with high levels of perceived burden and the other two groups (p < 0.05). There were also significant differences between the groups in sleep duration (F = 18.34; p < 0.001) and habitual sleep efficiency (F = 24.24; p < 0.001). In these dependent measures, the differences were found in all the pairs examined (p < 0.05). These results suggest that caregiver burden is related to sleep quality, so that caregivers with greater perceived burden have a worse sleep quality.

9.
Psicol. conduct ; 27(1): 107-119, ene.-abr. 2019. graf, tab
Artigo em Inglês | IBECS | ID: ibc-186305

RESUMO

The aim of this study was to estimate the prevalence of primary insomnia in female family caregivers of totally dependent patients with dementia, and to examine the relation between this sleep disorder and a number of characteristics of the caregivers, care recipients, and caregiving situations. The participants were 134 female caregivers, who answered a diagnostic interview according to DSM-IVTR diagnostic criteria. The functional status of the dependent person was assessed through the Barthel Index, and sociodemographic and related caring variables were collected through an ad hoc questionnaire. The prevalence of primary insomnia was 41.0%. Caregivers over 55, with more than eight years providing care and more than 12 daily hours of care, had a higher risk of developing insomnia. Multivariate analysis through binary logistic regression analysis showed that the factors more strongly associated with this diagnosis were the years of care duration (Wald= 4.02, p= .045, adjusted OR= 2.12, 95% CI= 1.02-4.42) and the daily hours of care (Wald= 4.07, p= .044, adjusted OR= 5.01, 95% CI= 1.05-23.92). Health care professionals should carefully check sleep complaints in female caregivers


El objetivo de este estudio fue estimar la prevalencia de insomnio primario en cuidadoras familiares de pacientes con demencia totalmente dependientes y examinar la relación entre este trastorno y diversas características de las cuidadoras, los destinatarios de la atención y la situación de cuidado. Participaron 134 cuidadoras quienes contestaron a una entrevista diagnóstica según el DSM-IV-TR. El estado funcional de la persona dependiente se evaluó mediante el Índice de Barthel. La prevalencia de insomnio primario fue 41,0%. Las cuidadoras mayores de 55 años, con más de ocho años proporcionando cuidados y más de 12 horas diarias de dedicación a esta tarea presentaron un mayor riesgo de desarrollar insomnio. El análisis multivariado mediante regresión logística binaria mostró que los factores más asociados con este diagnóstico fueron los años de duración del cuidado (Wald= 4,02; p= ,045; OR ajustado= 2,12; IC 95%= 1,02-4,42) y las horas diarias de atención (Wald= 4,07; p= 0,044; OR ajustado= 5,01; IC 95%= 1,05-23,92). A tenor de estos resultados, los profesionales de la salud deben controlar cuidadosamente las quejas de sueño en las cuidadoras


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Idoso de 80 Anos ou mais , Distúrbios do Início e da Manutenção do Sono/psicologia , Cuidadores/psicologia , Demência/psicologia , Demência/enfermagem , Manual Diagnóstico e Estatístico de Transtornos Mentais , Estudos Transversais , Fatores Socioeconômicos
10.
Artigo em Inglês | MEDLINE | ID: mdl-30646544

RESUMO

Although the Caregiver Burden Inventory (CBI) is the most widely used multidimensional burden instrument for assessing perceived burden of caregivers, there is no data on its psychometric properties in Spanish, nor on caregivers of dependent persons with various diseases. The objective of this study was to translate the CBI into Spanish and validate it in caregivers of dependent persons with various diseases. Trained evaluators administered the CBI and assessed emotional distress and probable mental disorder in 201 caregivers (87.1% women, mean age 56.2 years). The internal consistency of the CBI was 0.89 (0.74⁻0.83 among the subscales). There was a significant correlation of emotional distress with both the total burden and each subscale (p < 0.001 in all cases). A total score of 39 and scores of 16, 9, 8, 4, and 2 in burden per time dedicated to care, personal life burden, physical burden, social burden, and emotional burden were suitable cut-off points to discriminate caregivers with probable mental disorder (sensitivity = 63.0%⁻75.6%, specificity = 63.4%⁻74.4%). To achieve a greater goodness of fit, the model was re-specified, resulting in a shortened (15-item) instrument. The internal consistency reliability coefficients of the 15-item CBI were satisfactory (Cronbach α = 0.83; 0.77⁻0.86 among the subscales). Within the 15-item CBI, emotional distress was significantly correlated with the total burden, personal life burden, physical burden, social burden (p < 0.001 in all those cases), and emotional burden (p = 0.001). A total score of 25 and scores of 12, 5, 5, 3, and 1, respectively, in the subscales were identified as cut-off points to discriminate caregivers with probable mental disorder (sensitivity = 46.2%⁻70.6%, specificity = 43.9%⁻79.3%). Therefore, the 15-item CBI validly measured caregiver burden with better fit and more parsimoniously than the original CBI.


Assuntos
Cuidadores/psicologia , Escalas de Graduação Psiquiátrica , Idoso , Emoções , Feminino , Humanos , Masculino , Transtornos Mentais , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Traduções
11.
Appl Psychophysiol Biofeedback ; 42(3): 203-208, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28639056

RESUMO

The relevance of several clinical and psychophysiological variables in the dyssynergic defecation in elderly subjects was investigated in this study. To accomplish this, 30 elderly subjects (10 without anorectal disorders, 10 with chronic constipation and 10 with dyssynergic defecation) were repeatedly assessed once per week for 4 weeks, with the following measures being collected at each session: EMG-activity (µV) of the external anal sphincter (at rest, during squeezing, and during straining to defecate), stool frequency, difficulty defecation level, pain grade during defecation, and satisfaction level after evacuation. A 3 (group) × 4 (sessions) mixed-measures MANOVA revealed a significant main effect for group (Wilks's lambda = 0.006; F = 28.45; p < 0.01), but not for sessions (Wilks's lambda = 0.874; F = 0.94; p > 0.05) or for the group x sessions interaction (Wilks's lambda = 0.811; F = 1.45; p > 0.05). One-way ANOVA and Scheffé's posthoc tests were used to isolate the differences between the groups with respect to the seven different measures. These analysis showed significant differences between the groups on all four clinical variables but only for one psychophysiological variable, EMG-activity during straining to defecate. Significant differences were evidenced between all pairs examined for the difficulty defecation level and pain grade. The complete results of these analysis are presented and the conclusions drawn from them are discussed.


Assuntos
Ataxia/terapia , Biorretroalimentação Psicológica/métodos , Constipação Intestinal/terapia , Defecação/fisiologia , Eletromiografia/métodos , Psicofisiologia , Idoso , Feminino , Humanos , Masculino
12.
Gerokomos (Madr., Ed. impr.) ; 28(2): 109-114, jun. 2017. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-165746

RESUMO

Objetivo: Evaluar la efectividad en términos de cicatrización de un copolímero acrílico con un grupo amino modificado para el tratamiento de heridas cutáneas de diferente etiología en el ámbito de la atención primaria de salud. Metodología: Se llevó a cabo un estudio prospectivo observacional, abierto, de medidas repetidas en una cohorte de pacientes que presentaban heridas cutáneas de diferente etiología. Se realizó un seguimiento de 4 semanas o hasta la cicatrización. Se estableció un procedimiento de curas cada 3 días, y contempló: limpieza, aplicación del producto de evaluación, cobertura con un tul graso, aplicación de gasa hidrófila y fijación con adhesivo de tejido no tejido. Resultados: Se incluyeron 16 lesiones y hubo tres pérdidas, por lo que se obtuvo una muestra final de 13 lesiones (5 lesiones por quemaduras de grado II, 3 lesiones traumáticas y 5 lesiones de evolución crónica). El 35,7% eran mujeres y la edad media de los pacientes era de 64,71 ± 19,37 (DE) años. De las 13 lesiones, 11 cicatrizaron en menos de 4 semanas, con una tasa de cicatrización del 99,4%, y 2 lesiones cicatrizaron a los 32 días. El tiempo medio hasta la cicatrización fue de 16 ± 22,03 (DE) días. Conclusiones: A pesar de disponer de una muestra muy reducida y lesiones heterogéneas por la etiología, los resultados han mostrado una elevada tasa de cicatrización y un buen comportamiento en el manejo del dolor


Objective: To evaluate the effectiveness an acrylic copolymer with a modified amino group, in wound healing of diverse aetiology skin lesions in Primary Healthcare setting. Methods: We performed a prospective, observational, open study with repeated measures on a cohort of patients with skin lesions of different aetiology. We monitored them for 4 weeks or until the wounds healed. The dressing procedure was performed every 3 days, and involved wound cleaning, application of the evaluation product, coverage with a tulle grass dressing, application of hydrophilic gauze and fixation with a non-woven adhesive bandage. Results: Of the 16 lesions initially included, 3 were lost during the study, leaving a final sample of 13 lesions (5 second-degree burns, 3 traumatic lesions, 5 chronic lesions). 35.7% of the sample were women, and the mean age of the patients was 64.71 ± 19.37 years. 11 out of 14 lesions healed within 4 weeks, with a total wound-healing rate of 99.4%, and 2 lesions healed at day 32. The mean healing time was 16 ± 22.03 days. Conclusions: Despite the small sample size and wound heterogeneity, the results have shown a high healing rate and a good behavior in pain management


Assuntos
Humanos , Polímeros/uso terapêutico , Ferimentos Penetrantes/terapia , Técnicas de Fechamento de Ferimentos , Úlcera Cutânea/terapia , Bandagens , Estudos Prospectivos , Atenção Primária à Saúde , Resultado do Tratamento , Materiais Biocompatíveis/análise
13.
Mol Genet Genomic Med ; 5(1): 28-39, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28116328

RESUMO

BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion in the number of genes responsible for both recessive and dominant forms of this condition. Herein, we have analyzed a cohort of patients with OI, all offspring of unaffected parents, to determine the spectrum of variants accounting for these cases. Twenty patients had nonrelated parents and were sporadic, and 21 were born to consanguineous relationships. METHODS: Mutation analysis was performed using a next-generation sequencing gene panel, homozygosity mapping, and whole exome sequencing (WES). RESULTS: Patients offspring of nonconsanguineous parents were mostly identified with COL1A1 or COL1A2 heterozygous changes, although there were also a few cases with IFITM5 and WNT1 heterozygous mutations. Only one sporadic patient was a compound heterozygote for two recessive mutations. Patients offspring of consanguineous parents showed homozygous changes in a variety of genes including CRTAP,FKBP10,LEPRE1,PLOD2,PPIB,SERPINF1,TMEM38B, and WNT1. In addition, two patients born to consanguineous parents were found to have de novo COL1A1 heterozygous mutations demonstrating that causative variants in the collagen I structural genes cannot be overlooked in affected children from consanguineous couples. Further to this, WES analysis in probands lacking mutations in OI genes revealed deleterious variants in SCN9A,NTRK1, and SLC2A2, which are associated with congenital indifference to pain (CIP) and Fanconi-Bickel syndrome (FBS). CONCLUSION: This work provides useful information for clinical and genetic diagnosis of OI patients with no positive family history of this disease. Our data also indicate that CIP and FBS are conditions to be considered in the differential diagnosis of OI and suggest a positive role of SCN9A and NTRK1 in bone development.

14.
J Clin Gastroenterol ; 51(10): e90-e94, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28059942

RESUMO

AIM OF THE STUDY: The aim of this study was to evaluate the efficacy of biofeedback therapy in the treatment of dyssynergic defecation in chronically constipated community-dwelling elderly women. MATERIALS AND METHODS: After an initial assessment phase carried out during 1 month, 20 chronically constipated women with dyssynergic defecation were randomly assigned to either electromyographic biofeedback (EMG-BF) group (n=10) or control group (n=10). Outcome measures used to evaluate the efficacy of treatment were weekly stool frequency, sensation of incomplete evacuation, difficulty evacuation level, mean EMG-activity (µV) of the external anal sphincter during straining to defecate and Anismus index. RESULTS: The results obtained in this randomized controlled trial showed significant differences between the groups in all the dependent variables after 1 month of treatment. Moreover, there was no difference between the groups neither in age nor in the duration of chronic constipation symptoms. At the follow-up, 3 months later, clinical gains were maintained. CONCLUSIONS: This study demonstrates that the EMG-BF is an effective behavioral therapy for the treatment of dyssynergic defecation in community-dwelling elderly women.


Assuntos
Biorretroalimentação Psicológica/métodos , Constipação Intestinal/terapia , Defecação/fisiologia , Eletromiografia/métodos , Idoso , Idoso de 80 Anos ou mais , Canal Anal/fisiologia , Feminino , Seguimentos , Humanos , Resultado do Tratamento
15.
Rev. latinoam. psicol ; 43(1): 105-111, ene. 2011. ilus, tab
Artigo em Inglês | LILACS | ID: lil-637088

RESUMO

The aim of this study was to evaluate the effects of electromyographic biofeedback training in chronically constipated patients with dyssynergic defecation. With this purpose, ten patients (4 males, 6 females) with dyssynergic defecation unresponsive to dietary corrections and fibre supplements were selected and enclosed in the study on the basis of fulfilled the Rome III criteria for this functional gastrointestinal disorder. The study was carried out following a series of defined phases: clinical and psychophysiological assessment prior to the treatment (4 weeks), EMG-biofeedback treatment (8 sessions, two per week) and follow-up (4 weeks) one month later. In all phases, four clinical variables were assessed through selfmonitoring (frequency of defecations per week, sensation of incomplete evacuation, difficulty evacuation level, and perianal pain at defecation); moreover, psychophysiological measures were obtained through electromyography (EMG) of the external anal sphincter. Results show significant improvements in psychophysiological measures (EMGactivity during straining to defecate and anismus index), as well as in clinical variables. Biofeedback's benefits were maintained at the follow-up period.


El objetivo de este estudio fue evaluar los efectos del entrenamiento en biofeedback-EMG en pacientes con estreñimiento crónico debido a defecación disinérgica. Con este propósito, 10 pacientes (4 varones, 6 mujeres) con defecación disinérgica que no respondían a correcciones dietéticas y suplementos de fibra, fueron seleccionados e incluidos en el estudio sobre la base de cumplir los criterios Roma III para el diagnóstico de este trastorno funcional gastrointestinal. El estudio se llevó a cabo a lo largo de una serie de fases definidas: evaluación psicofisiológica y clínica previa al tratamiento (4 semanas), tratamiento por medio de biofeedback-EMG (8 sesiones, a razón de dos sesiones semanales) y seguimiento (4 semanas) un mes más tarde. En todas las fases, cuatro variables clínicas fueron evaluadas a través de autorregistro (frecuencia de defecaciones semanales, sensación de evacuación incompleta, nivel de dificultad de la evacuación y dolor perianal en la defecación); además, se obtuvieron medidas psicofisiológicas a través de electromiografía (EMG) del esfínter anal externo. Los resultados muestran mejoras significativas en las medidas psicofisiológicas (actividad-EMG durante el esfuerzo para defecar e índice de anismus), así como en las variables clínicas. Los beneficios del biofeedback se mantuvieron en el período de seguimiento.

16.
Psicothema ; 22(2): 208-12, 2010 May.
Artigo em Espanhol | MEDLINE | ID: mdl-20423623

RESUMO

The purpose of this study was to assess the relation between depression, gender and systemic manifestations in chronic inflammatory bowel diseases. With this aim, 106 patients (57 with Crohn disease and 49 with ulcerative colitis) were divided into 4 groups: men with extraintestinal manifestations (n= 10), men without extraintestinal manifestations (n= 36), women with extraintestinal manifestations (n= 15), and women without extraintestinal manifestations (n= 45). Depression was assessed with the Beck Depression Inventory. The results reveal significant effects both in the systemic manifestations factor (F= 28,33; p<0.01), and in the interaction between systemic manifestations and gender (F= 5,2; p<0.05); the gender factor, in contrast, was nonsignificant (F= 0,28; p>0.05). The finding of higher levels of depression in patients with systemic manifestations, particularly in men, underlines the need for psychological intervention aimed at detection and effective treatment.


Assuntos
Depressão/etiologia , Doenças Inflamatórias Intestinais/complicações , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Adulto Jovem
17.
Psicothema (Oviedo) ; 22(2): 208-212, 2010. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-79258

RESUMO

El propósito de este trabajo fue evaluar la relación existente entre depresión, género y manifestaciones sistémicas en las enfermedades inflamatorias crónicas del intestino. Con esta finalidad, 106 pacientes (57 con enfermedad de Crohn y 49 con colitis ulcerosa) fueron divididos en 4 grupos: varones con manifestaciones extraintestinales (n= 10), varones sin manifestaciones extraintestinales (n= 36), mujeres con manifestaciones extraintestinales (n= 15) y mujeres sin manifestaciones extraintestinales (n= 45). La evaluación de la depresión se llevó a cabo mediante el Inventario de Depresión de Beck. Los resultados obtenidos muestran la existencia de efectos significativos tanto en el factor manifestaciones sistémicas (F= 28,33; p<0,01), como en la interacción entre manifestaciones sistémicas y género (F= 5,2; p<0,05); el factor género, por el contrario, no resultó significativo (F= 0,28; p>0,05). El hallazgo de niveles superiores de depresión en los pacientes con manifestaciones sistémicas, particularmente en los varones, pone de relieve la necesidad de una intervención psicológica dirigida a su detección y tratamiento eficaz(AU)


The purpose of this study was to assess the relation between depression, gender and systemic manifestations in chronic inflammatory bowel diseases. With this aim, 106 patients (57 with Crohn disease and 49 with ulcerative colitis) were divided into 4 groups: men with extraintestinal manifestations (n= 10), men without extraintestinal manifestations (n= 36), women with extraintestinal manifestations (n= 15), and women without extraintestinal manifestations (n= 45). Depression was assessed with the Beck Depression Inventory. The results reveal significant effects both in the systemic manifestations factor (F= 28,33; p<0.01), and in the interaction between systemic manifestations and gender (F= 5,2; p<0.05); the gender factor, in contrast, was nonsignificant (F= 0,28; p>0.05). The finding of higher levels of depression in patients with systemic manifestations, particularly in men, underlines the need for psychological intervention aimed at detection and effective treatment.(AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Identidade de Gênero , Depressão/complicações , Depressão/psicologia , Enteropatias/complicações , Enteropatias/diagnóstico , Enteropatias/psicologia , Doença de Crohn/complicações , Doença de Crohn/diagnóstico , Psicometria/instrumentação , Inflamação/complicações , Inflamação/psicologia , Colite Ulcerativa/complicações , Colite Ulcerativa/diagnóstico , Análise de Variância , Análise Fatorial
18.
Appl Psychophysiol Biofeedback ; 34(4): 273-7, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19618262

RESUMO

A randomized controlled trial was carried out with the purpose to determine the effectiveness of EMG-biofeedback in the treatment of chronically constipated elderly patients with dyssynergic defecation as compared to a control condition characterized by information about the bowel functioning and counseling focused on the behavioural mechanisms involved in the defecation. With this purpose, after an initial assessment period (4 weeks), 30 chronically constipated elderly patients with dyssynergic defecation (11 males, 19 females) were randomly assigned to either EMG-biofeedback group (n = 15) or control group (n = 15). The results shown significant improvements in psychophysiological measures (EMG-activity during straining to defecate and anismus index), as well as in clinical variables (frequency of defecations per week, sensation of incomplete evacuation, difficulty evacuation level and perianal pain at defecation) only in the EMG-biofeedback group. The clinical benefits of this behavioural treatment were maintained at the follow-up period 2 months later.


Assuntos
Ataxia/terapia , Biorretroalimentação Psicológica/métodos , Constipação Intestinal/terapia , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Terapia Comportamental , Doença Crônica/terapia , Defecação , Eletromiografia , Feminino , Humanos , Masculino , Resultado do Tratamento
19.
Peu ; 29(1): 9-20, ene.-mar. 2009. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-81076

RESUMO

El origen de las enfermedades metabólicas como ladiabetes mellitus (DM) representa la mayor epidemiaque se ha conocido hasta ahora. El “pie diabético” esun síndrome que engloba las alteraciones anatómicasy / o funcionales que ocurren en las extremidadesinferiores de las personas con diabetes, y presentanuna elevada morbilidad. El riesgo de una persona condiabetes a desarrollar a lo largo de su vida una úlceraen el pie es más del 25% y un 70% de las amputacionesde las extremidades inferiores se asocian con estaenfermedad. La clave para el enfoque del pie diabéticoes abordar el problema desde su etiopatogenia. Mediantela exploración de los pies se detectan muchasalteraciones secundarias de la neuropatía. Conociendolos elementos que intervienen en la patogénesis de laslesiones y las úlceras localizadas en el pie diabéticose clasifican como: neuropáticas, isquémicas y mixtas(neuroisquémicas) estás corresponden al 80% de lasúlceras en pacientes con DM. El tratamiento local“TIME” de las lesiones del pie requiere un enfoqueglobal, que nos permita eliminar los obstáculos parala curación y la aplicación de medidas que faciliten elcierre de las heridas crónicas mediante la aplicaciónde nuevos productos y materiales basados en la curaen ambiente húmedo. La aplicación de factores decrecimiento y otros productos que realizan funcionessimilares como es el caso de los apósitos de hialuronatode zinc (AHZn) son una alternativa terapéutica degran valor en lesiones tan complejas como las del piediabético. El AHZn está implicado en funciones comola vascularización, la morfogénesis, la reparación y laintegridad general de la matriz extracelular(AU)


The origin of metabolic diseases such as diabetes mellitus(DM) poses the biggest epidemic that has beenknown until now. The “diabetic foot” is a syndromethat encompasses the anatomical abnormalities and/ or functional occurring at the feet of people withdiabetes with high morbidity. The risk of a person withdiabetes to develop throughout their lives an ulcer inthe foot is over 25% and the 70% of leg amputationsare associated with this disease. The key to the approachof the diabetic foot is to approach the problemfrom a etiopatogenics. Through the exploration ofthe foot are detected many disturbances as a resultof neuropathy. Knowing that they are neuropathyand peripheral vascular disease. The componentsinvolved in the pathogenesis of the lesions and ulcersare classified as: neuropathy, ischemic and mixed (ischemicneuropathy) is implicated in 80% of ulcers inpatients with DM. The local treatment “TIME” of footinjuries requiring a global approach, which helps usto remove obstacles to healing and to implement measuresto facilitate closure of chronic wounds throughthe application of new products and materials basedon the principles of cure in wet environment. Theapplication of growth factors and other products thatsimilar functions such as hyaluronate Zinc dressing(AHZn), is an alternative therapies are of great valuein such complex lesions such as diabetic foot. TheAHZn is involved in functions such as vascularization,cellular morphogenesis, repair and overall integrityof the extra cellular matrix(AU)


Assuntos
Humanos , Pé Diabético/terapia , Ácido Hialurônico/uso terapêutico , Equipe de Assistência ao Paciente/tendências , Zinco/uso terapêutico , Anti-Infecciosos Locais/uso terapêutico , Matriz Extracelular
20.
Appl Psychophysiol Biofeedback ; 34(2): 93-7, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19221873

RESUMO

The aim of this study was to evaluate the temporal stability and the situational specificity of the intra-anal EMG-activity, as well as the individual specificity of this response in dyssynergic defecation patients. With this purpose, 26 individuals (13 with dyssynergic defecation and 13 without anorectal pathology) participated in two sessions of psychophysiological assessment, with an inter-session period of 1 week. At each session, the EMG-activity of external anal sphincter was recorded under four different conditions (baseline, voluntary contraction, reflex contraction and simulated defecation). The findings provide empirical evidence about temporal stability of the intra-anal EMG-activity, situational specificity of this response and the existence of a specific profile of intra-anal EMG-activity characteristic of patients with dyssynergic defecation.


Assuntos
Constipação Intestinal/fisiopatologia , Defecação/fisiologia , Doenças Retais/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Canal Anal/fisiopatologia , Eletromiografia , Feminino , Humanos , Masculino , Contração Muscular/fisiologia , Diafragma da Pelve/fisiopatologia , Reprodutibilidade dos Testes
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