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1.
Rev. neurol. (Ed. impr.) ; 78(9)1-15 may 2024. tab
Artículo en Español | IBECS | ID: ibc-CR-368

RESUMEN

Introducción Las miopatías genéticas constituyen un conjunto de enfermedades raras que impactan significativamente en la funcionalidad y la calidad de vida del paciente. Un diagnóstico temprano de las miopatías genéticas puede prevenir complicaciones futuras y proporcionar a las familias asesoramiento genético. A pesar del impacto sustancial de las miopatías genéticas en población adulta, la epidemiología global de estos trastornos está inadecuadamente abordada en la bibliografía.ObjetivosMejorar el entendimiento tanto de la epidemiología como de la genética de estos trastornos en la provincia de Alicante, situada en el sureste de España. Material y métodos. Entre 2020 y 2022, se llevó a cabo un estudio observacional prospectivo en el área de salud Alicante-Hospital General, que incluyó a pacientes de 16 años o más con sospecha de miopatías genéticas. Se recopilaron datos sociodemográficos, clínicos y genéticos. La fecha de referencia para el cálculo de la prevalencia se estableció el 31 de diciembre de 2022. Se utilizaron datos demográficos oficiales del área de salud para establecer la población en riesgo.ResultadosEn total, se identificó a 83 pacientes con miopatía genéticamente confirmada, lo que dio lugar a una prevalencia total de 29,59 casos por cada 100.000 habitantes. El rendimiento diagnóstico de las pruebas genéticas moleculares fue del 69,16%. Las miopatías genéticas más frecuentes incluyeron la distrofia miotónica (27,5%), las distrofinopatías (15,7%) y la distrofia facioescapulohumeral (15,7%).ConclusiónLa prevalencia de las miopatías genéticas puede variar considerablemente dependiendo de la región geográfica y la población estudiada. El análisis del rendimiento diagnóstico sugiere que los estudios genéticos deberían considerarse útiles en el diagnóstico de las miopatías genéticas. (AU)


Introduction. Genetic myopathies constitute a collection of rare diseases that significantly impact patient functionality and quality of life. Early diagnosis of genetic myopathies can prevent future complications and provide families with genetic counselling. Despite the substantial impact of genetic myopathies on the adult population, the global epidemiology of these disorders is inadequately addressed in the literature.Aims. To enhance understanding of both the epidemiology and genetics of these disorders within the province of Alicante, situated in southeastern Spain.Material and methods. Between 2020 and 2022, a prospective observational study was conducted at the Alicante Health Area-General Hospital, enrolling patients aged 16 years or older with suspected genetic myopathies. Sociodemographic, clinical, and genetic data were collected. The reference date for prevalence calculation was established as December 31, 2022. Official demographic data of the health area were used to set the population at risk.Results. In total, 83 patients were identified with confirmed genetically related myopathy, resulting in an overall prevalence of 29.59 cases per 100,000 inhabitants. The diagnostic yield for molecular genetic testing was found to be 69.16%. The most prevalent genetic myopathies identified included myotonic dystrophy (27.5%), dystrophinopathies (15.7%), and facioscapulohumeral dystrophy (15.7%).Conclusion. The prevalence of GMs can vary considerably depending on the geographical region and the studied population. The analysis of diagnostic yield suggests that genetic studies should be considered useful in the diagnosis of genetic myopathies. (AU)


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Enfermedades Musculares , Enfermedades Musculares/congénito , Enfermedades Musculares/epidemiología , Estudios Transversales , España/epidemiología
2.
Arch. Soc. Esp. Oftalmol ; 99(5): 209-212, May. 2024. mapas
Artículo en Español | IBECS | ID: ibc-VR-72

RESUMEN

La neuromiotonía ocular es una patología poco frecuente caracterizada por episodios recurrentes de diplopía binocular ocasionada por una contracción paroxística mantenida de uno o más músculos extraoculares inervados por un mismo nervio craneal, espontáneamente o inducidos por una versión concreta mantenida en el tiempo, normalmente relacionado con un antecedente de radioterapia local intracraneal. Presentamos el caso de una mujer de 46 años que presenta episodios de diplopía binocular recurrentes, diagnosticada de neuromiotonía ocular del VI nervio craneal izquierdo a los 8 años de padecer un cáncer de cavum tratado mediante radioterapia local y en completa remisión. Aunque es poco frecuente, la radiación a nivel de cavum debe tenerse en cuenta como potencial causa de neuromiotonía ocular, por su proximidad a la base del cráneo y su estrecha relación con el trayecto de los nervios oculomotores, especialmente el VI par craneal, como el caso que se presenta en este artículo.(AU)


Ocular neuromyotonia is an infrequent disorder characterised by recurrent episodes of binocular diplopia caused by paroxysmal contraction of one or several extraocular muscles innervated by the same cranial nerve. It can be triggered spontaneously or caused by prolonged contraction of specific eye muscle(s) and is usually related to a local intracranial radiotherapy antecedent. We report the case of a 46-year-old woman who developed intermittent episodes of binocular diplopia 8 years after radiotherapy for a nasopharyngeal carcinoma. After a complete neuro-ophthalmic assessment we diagnosed the case as an abducens nerve neuromyotonia. Although it is infrequent, radiotherapy to the nasopharynx is a possible cause of ocular neuromyotonia, due to the proximity to the base of the skull and extraocular motor nerve pathways, especially that of the VI cranial nerve, as is the case presented in this article, about a patient whose history is a nasopharyngeal carcinoma treated with local radiotherapy.(AU)


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Síndrome de Isaacs , Carcinoma Nasofaríngeo , Diplopía , Radioterapia , Visión Ocular , Oftalmología , Oftalmopatías , Pacientes Internos , Examen Físico
3.
Arch. Soc. Esp. Oftalmol ; 99(5): 218-221, May. 2024. ilus
Artículo en Español | IBECS | ID: ibc-VR-74

RESUMEN

El síndrome de Sneddon (SS) se manifiesta por múltiples accidentes cerebrovasculares y livedo reticularis. La vasculopatía livedoide (VL) se caracteriza por una larga historia de ulceración de pies y piernas y una histopatología que indica un proceso trombótico. Se describe una oclusión de rama arterial retiniana en un varón de 52años con VL. No presentó anomalías de laboratorio perceptibles, como anticuerpos antifosfolípidos, ni antecedentes de accidentes cerebrovasculares. La oclusión de arteria retiniana acompañada de VL podría ser una variante del síndrome de Sneddon. Con angiografía por tomografía de coherencia óptica se observó en la mácula en el ojo asintomático una reducción de las capas vasculares, lo que indica cambios microvasculares localizados como marcador evolutivo en la patogénesis del SS.(AU)


Sneddon's syndrome (SS) manifests through multiple strokes and livedo reticularis. Livedoid vasculopathy (LV) is characterized by a long history of foot and leg ulceration and histopathology indicating a thrombotic process. Arterial retinal branch occlusion is described in a 52-year-old male with LV. He did not present noticeable laboratory abnormalities, such as antiphospholipid antibodies, or a history of strokes. Retinal artery occlusion accompanied by LV could be a variant of Sneddon's syndrome. Optical coherence tomography angiography revealed a reduction in the macula's vascular layers in the asymptomatic eye, indicating localized microvascular changes as an evolving marker in the pathogenesis of SS.(AU)


Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Síndrome de Sneddon , Oclusión de la Arteria Retiniana , Degeneración Macular , Tomografía de Coherencia Óptica , Oftalmología , Oftalmopatías , Pacientes Internos , Examen Físico
4.
Radiography (Lond) ; 30(3): 964-970, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38657390

RESUMEN

INTRODUCTION: Non-medical professionals in the United Kingdom (UK) have been granted prescribing rights to improve patient care quality and cost-effectiveness. There is limited evidence on how therapeutic radiographer prescribers have impacted medicine management or patient services. METHODS: An online survey was conducted amongst non-medical prescribing therapeutic radiographers in the UK between 2019 and 2022. The study teams initially analysed the individual data sets, subsequently combined, and secondary analysis was performed to provide a UK perspective, to understand the services provided and identify areas for improvement. Data was analysed using descriptive statistics from Microsoft Excel® and SPSS®. RESULTS: 74 non-medical prescribing therapeutic radiographers who were predominantly over 40 years old and in full-time work participated. The main job categories were consultant radiographers (n = 23, 31.1%) and advanced practice practitioners (n = 18, 24.3%). Many use their prescribing qualifications (87.5%, n = 62), issuing a mean of 15 independent and seven items by supplementary and prescribing per week. Most received assessment and diagnostic skills training before prescribing courses (91.6%, n = 67). Respondents prescribed from a median of six areas, with the highest being in GI (82%), skin (68%), infections (58%), urinary tract disorders (55%) and ear, nose, and oropharynx conditions (54%). CONCLUSION: This study presents the first report on therapeutic radiographers prescribing in the UK, offering insights into current practices and highlighting the success of non-medical prescribing. Therapeutic radiographers' roles continue to expand into advanced practice and medicine-prescribing responsibilities, contributing to holistic and patient-centred care. IMPLICATIONS FOR PRACTICE: The results are relevant for nations grappling with oncology workforce shortages and contemplating similar roles for therapeutic radiographers. The study can be a valuable resource for policymakers and healthcare organisations worldwide.


Asunto(s)
Radiografía , Humanos , Reino Unido , Encuestas y Cuestionarios , Femenino , Masculino , Adulto , Persona de Mediana Edad , Radiografía/estadística & datos numéricos , Prescripciones , Técnicos Medios en Salud
5.
Integr Cancer Ther ; 23: 15347354241237972, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38654515

RESUMEN

BACKGROUND: Breast cancer survivors often suffer from diagnosis- and therapy-related long-term side effects, such as cancer related fatigue, restricted stress resilience and quality of life. Walking as a physical activity and mindfulness practice have been shown to be helpful in studies. The aim of this study was to compare the individual experiences and subjectively perceived effects of walking in combination with mindfulness practice with moderate walking alone in breast cancer patients. This paper focuses on the qualitative results of a mixed-methods pilot study. METHODS: Breast cancer patients who had finished their primary oncologic treatment at least 6 months ago were randomized to an 8-week group intervention program of either mindful walking or moderate walking. Within the qualitative study part, semi-structured focus group interviews (2 interviews per study arm) were conducted and analyzed using a qualitative content analysis approach. Audio recorded interviews were transcribed verbatim and pseudonymized. The subsequent data analysis was performed by using MAXQDA®. RESULTS: A total of 51 women (mean age 55.8 [SD 10.9] years) were included in the RCT, among these 20 (mean age 56.7 [SD 12.0] years) participated in the focus group interviews (n = 11 patients of the mindful walking group; n = 9 patients of the walking group). Breast cancer patients in both groups described different effects in the complex areas of self-efficacy, coping, body awareness and self-reflection. While mindful walking primarily promoted body awareness and inner strength by mindfulness in breast cancer patients, moderate walking promoted self-efficacy by a confidence of their body and an easily integrated and accepted way of physical activity. CONCLUSIONS: Study interventions and the study setting triggered processes and reflections on one's own health and situation. However, mindful walking and moderate walking seem to address different resources. This important knowledge may help oncologists and other therapists to assess what type of interventions can best meet the needs and requirements of individual patients. TRIAL REGISTRATION: DKRS00011521; prospectively registered 21.12.2016; https://drks.de/search/de/trial/DRKS00011521.


Asunto(s)
Neoplasias de la Mama , Atención Plena , Investigación Cualitativa , Calidad de Vida , Caminata , Humanos , Femenino , Neoplasias de la Mama/psicología , Neoplasias de la Mama/terapia , Atención Plena/métodos , Persona de Mediana Edad , Caminata/fisiología , Caminata/psicología , Calidad de Vida/psicología , Grupos Focales , Proyectos Piloto , Supervivientes de Cáncer/psicología , Anciano , Adulto , Fatiga/terapia , Fatiga/psicología
6.
Lasers Med Sci ; 39(1): 113, 2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38656631

RESUMEN

PURPOSE: Melasma remains a refractory skin condition that needs to be actively explored. Azelaic acid has been used for decades as a topical agent to improve melasma through multiple mechanisms, however, there is a lack of research on its combination with laser therapy. This study evaluated the effectiveness of isolated treatment with topical 20% azelaic acid and its combination with 755-nm picosecond laser in facial melasma patients. METHODS: A randomized, evaluator-blinded, controlled study was conducted on 30 subjects with facial melasma in a single center from October 2021 to April 2022. All subjects received topical 20% azelaic acid cream (AA) for 24 weeks, and after 4 weeks, a hemiface was randomly assigned to receive 755-nm picosecond (PS) laser therapy once every 4 weeks for 3 treatments. Treatment efficacy was determined by mMASI score evaluations, dermoscopic assessment, reflectance confocal microscopy (RCM) assessments and patient's satisfaction assessments (PSA). RESULTS: Treatment with 20% azelaic acid, with or without picosecond laser therapy, significantly reduced the hemi-mMASI score (P < 0.0001) and resulted in higher patient satisfaction. Improvements in dermoscopic and RCM assessments were observed in both sides of the face over time, with no difference between the two sides. RCM exhibited better dentritic cell improvement in the combined treatment side. No patients had serious adverse effects at the end of treatment or during the follow-up period. CONCLUSION: The additional use of picosecond laser therapy showed no clinical difference except for subtle differences detected by RCM assessments.The study was registered in the Chinese Clinical Trial Registry (ChiCTR2100051294; 18 September 2021).


Asunto(s)
Ácidos Dicarboxílicos , Láseres de Estado Sólido , Melanosis , Humanos , Melanosis/terapia , Melanosis/radioterapia , Femenino , Ácidos Dicarboxílicos/uso terapéutico , Ácidos Dicarboxílicos/administración & dosificación , Adulto , Persona de Mediana Edad , Láseres de Estado Sólido/uso terapéutico , Masculino , Resultado del Tratamiento , Terapia por Luz de Baja Intensidad/métodos , Fármacos Dermatológicos/uso terapéutico , Fármacos Dermatológicos/administración & dosificación , Terapia Combinada , Satisfacción del Paciente , Administración Tópica , Método Simple Ciego
7.
Curr Psychiatry Rep ; 26(5): 249-252, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38647969

RESUMEN

In this narrative, a general practitioner and psychotherapist trained in anthroposophic medicine presents the narrative and treatment of a 60-year-old woman who experienced the horrors of the "Dark Sabbath" attack in southern Israel on October 7, 2023. The patient's story is narrated by the physician, who shares his multi-disciplinary and multi-modal anthroposophic medicine approach to address the patient's acute stress disorder-related symptoms and concerns.


Asunto(s)
Medicina Antroposófica , Humanos , Femenino , Persona de Mediana Edad
8.
Front Endocrinol (Lausanne) ; 15: 1355916, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38665259

RESUMEN

Introduction: 24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms are usually mild. Aim of the study: We report a rare case of an adult with primary hyperparathyroidism and loss-of-function mutations in the CYP24A1 gene and a review of similar cases. Case presentation: We report the case of a 58-year-old woman diagnosed initially with primary hyperparathyroidism. Preoperatively, the suspected mass adjoining the upper pole of the left lobe of the thyroid gland was found via ultrasonography and confirmed by 99mTc scintigraphy and biopsy as the parathyroid gland. The patient underwent parathyroidectomy (a histopathology report revealed parathyroid adenoma), which led to normocalcaemia. After 10 months, vitamin D supplementation was introduced due to deficiency, and the calcium level remained within the reference range. Two years later, biochemical tests showed recurrence of hypercalcaemia with suppressed parathyroid hormone levels and elevated 1,25(OH)2D3 concentrations. Further investigation excluded the most common causes of PTH-independent hypercalcaemia, such as granulomatous disease, malignancy, and vitamin D intoxication. Subsequently, vitamin D metabolites were measured using LC-MS/MS, which revealed high levels of 25(OH)D3, low levels of 24,25(OH)2D3 and elevated 25(OH)2D3/24,25(OH)2D3 ratios, suggesting a defect in vitamin D catabolism. Molecular analysis of the CYP24A1 gene using the NGS technique revealed two pathogenic variants: p.(Arg396Trp) and p.(Glu143del) (rs114368325 and rs777676129, respectively). Conclusions: The diagnostic process for hypercalcaemia becomes complicated when multiple causes of hypercalcaemia coexist. The measurement of vitamin D metabolites using LC-MS/MS may help to identify carriers of CYP24A1 mutations. Subsequent molecular testing may contribute to establishing the exact frequency of pathogenic variants of the CYP24A1 gene and introducing personalized treatment.


Asunto(s)
Adenoma , Hipercalcemia , Neoplasias de las Paratiroides , Vitamina D3 24-Hidroxilasa , Humanos , Hipercalcemia/genética , Femenino , Persona de Mediana Edad , Vitamina D3 24-Hidroxilasa/genética , Neoplasias de las Paratiroides/genética , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/patología , Adenoma/genética , Adenoma/complicaciones , Adenoma/patología , Mutación , Paratiroidectomía
9.
Antiviral Res ; 226: 105889, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38631661

RESUMEN

Hepatitis B virus (HBV) infections pose a major threat to human health. HBV can upregulate the expression of the transcription factor Yin Yang 1 (YY1) in in vitro cytological experiments, suggesting an association between YY1 and HBV infection. However, data on YY1 expression in chronic hepatitis B (CHB) patients are lacking. In this study, we aimed to assess the correlation between YY1 expression and HBV infection. We detected serum YY1 levels in 420 patients with chronic HBV infection, 30 patients with chronic hepatitis C virus infection, and 32 healthy controls using an enzyme-linked immunosorbent assay. The correlation between YY1 levels and clinical parameters was analyzed. Meanwhile, the changes of YY1 before and after interferon or entecavir treatment were analyzed. YY1 levels in the liver tissues were detected using immunofluorescence staining. The expression of YY1 in HBV-expressing cells was detected through western blotting. Meanwhile, we explored the effects of YY1 on HBV replication and gene expression. We found that YY1 was highly expressed in the serum and liver tissues of CHB patients. Serum YY1 levels positively correlated with HBV DNA and hepatitis B surface antigen (HBsAg). Additionally, HBV DNA levels increased but HBsAg levels decreased after HBV-expressing cells overexpress YY1. In conclusion, our study demonstrates that YY1 plays an important role in HBV replication and gene expression, providing a potential target for the treatment of CHB.


Asunto(s)
ADN Viral , Antígenos de Superficie de la Hepatitis B , Virus de la Hepatitis B , Hepatitis B Crónica , Hígado , Replicación Viral , Factor de Transcripción YY1 , Humanos , Factor de Transcripción YY1/metabolismo , Factor de Transcripción YY1/genética , Hepatitis B Crónica/virología , Hepatitis B Crónica/tratamiento farmacológico , Hepatitis B Crónica/metabolismo , Virus de la Hepatitis B/genética , Virus de la Hepatitis B/fisiología , Masculino , Femenino , Adulto , Persona de Mediana Edad , ADN Viral/genética , ADN Viral/sangre , Antígenos de Superficie de la Hepatitis B/sangre , Antígenos de Superficie de la Hepatitis B/metabolismo , Hígado/virología , Hígado/metabolismo , Guanina/análogos & derivados , Antivirales/uso terapéutico , Antivirales/farmacología , Interferones/metabolismo , Células Hep G2
10.
Zhen Ci Yan Jiu ; 49(4): 398-402, 2024 Apr 25.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-38649208

RESUMEN

OBJECTIVES: To compare the clinical effect of combined therapy of acupotomy and electroacupuncture (EA) with the simple application of EA on knee osteoarthritis (KOA), and their influence on knee function. METHODS: Sixty-eight KOA patients were randomly divided into 2 groups, an acupotomy group and an EA group. In the acupotomy group, the combined therapy of acupotomy and EA was adopted. In the EA group, EA was simply used, delivered once every two days, 3 treatments a week;and the duration of treatment was 4 weeks. In the acupotomy group, besides the treatment as the EA group, acupotomy was combined once weekly, and the duration of treatment was 4 weeks. Separately, before and after treatment, and in 4 and 12 weeks after treatment completion (1-month and 3-month follow-up), the results of the timed up and go test (TUG), the 9-step stair climb test (9-SCT) and the knee function (Western Ontario and McMaster University osteoarthritis index visualization scale [WOMAC]) were measured in the two groups. RESULTS: By the intention-to-treat analysis, the results of TUG, 9-SCT and WOMAC scores were reduced after treatment and in 1-month and 3-month follow-up when compared with those before treatment in the patients of the two groups (P<0.05). Compared with the EA group at the same time point, TUG results were decreased after treatment and in 1-month follow-up, and WOMAC score was reduced after treatment in the acupotomy group. WOMAC score in 1-month follow-up was reduced when compared with that before treatment within the acupotomy group (P<0.05). CONCLUSIONS: Either the simple application of EA or the combined therapy of acupotomy and EA can improve knee function, but the combined therapy obviously increases the walking speed and relieves the symptoms such as joint pain and morning stiffness. The treatment with acupotomy and EA is safe and effective on KOA and the long-term effect is satisfactory.


Asunto(s)
Terapia por Acupuntura , Electroacupuntura , Osteoartritis de la Rodilla , Humanos , Osteoartritis de la Rodilla/terapia , Osteoartritis de la Rodilla/fisiopatología , Femenino , Masculino , Persona de Mediana Edad , Anciano , Resultado del Tratamiento , Terapia Combinada , Articulación de la Rodilla/fisiopatología , Puntos de Acupuntura
11.
Tijdschr Psychiatr ; 66(3): 137-143, 2024.
Artículo en Holandés | MEDLINE | ID: mdl-38650510

RESUMEN

BACKGROUND: Acceptance and Commitment Therapy (ACT) plays an important role in the treatment of patients with refractory Somatic Symptom Disorder and related disorders with complex problems and/or somatic or psychiatric comorbidity (complex SSD). AIM: To gain insight into the possible role of (experiential) acceptance in improved quality of life during and after treatment. METHOD: Observational longitudinal study in 41 patients with complex SSD treated at Altrecht Psychosomatic Medicine Eikenboom. They completed online questionnaires around the start and completion of treatment and after six months of follow-up. Assessed were experiential acceptance (AAQ-II-NL) and three aspects of quality of life (RAND-36: mental health, physical functioning, general health perception). The associations between changes in acceptance and quality of life were determined. RESULTS: Acceptance increased significantly from treatment initiation to follow-up. Mental health increased significantly between start and end of treatment, and general health perception increased significantly in the follow-up period. Physical functioning did not change. During treatment, an increase in acceptance was significantly associated with improvement in mental health and general health perception; during follow-up, an increase in acceptance was associated with an improvement in mental health. CONCLUSION: The current study demonstrates that an increase in experiential acceptance goes hand in hand with an improvement in mental health and general health perception. These results indicate the potential importance of acceptance-based treatment in patients with complex SSD. Experimental research with more frequent measurements is needed to test a temporal relationship between (first) increased acceptance and (then) improved quality of life.


Asunto(s)
Terapia de Aceptación y Compromiso , Calidad de Vida , Humanos , Femenino , Masculino , Estudios Longitudinales , Trastornos Somatomorfos/terapia , Trastornos Somatomorfos/psicología , Resultado del Tratamiento , Adulto , Persona de Mediana Edad , Encuestas y Cuestionarios , Síntomas sin Explicación Médica
12.
Ann Hematol ; 103(6): 1887-1896, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38581547

RESUMEN

We evaluated the impact of the genotype on clinical and hematochemical features, hepatic and cardiac iron levels, and endocrine, hepatic, and cardiovascular complications in non-transfusion-dependent (NTD) ß-thalassemia intermedia (TI) patients. Sixty patients (39.09 ± 11.11 years, 29 females) consecutively enrolled in the Myocardial Iron Overload in Thalassemia project underwent Magnetic Resonance Imaging to quantify iron overload, biventricular function parameters, and atrial areas and to detect replacement myocardial fibrosis. Three groups of patients were identified: homozygous ß+ (N = 18), heterozygous ß0ß+ (N = 22), and homozygous ß0 (N = 20). The groups were homogeneous for sex, age, splenectomy, hematochemical parameters, chelation therapy, and iron levels. The homozygous ß° genotype was associated with significantly higher biventricular end-diastolic and end-systolic volume indexes and bi-atrial area indexes. No difference was detected in biventricular ejection fractions or myocardial fibrosis. Extramedullary hematopoiesis and leg ulcers were significantly more frequent in the homozygous ß° group compared to the homozygous ß+ group. No association was detected between genotype and liver cirrhosis, hypogonadism, hypothyroidism, osteoporosis, heart failure, arrhythmias, and pulmonary hypertension. Heart remodelling related to a high cardiac output state cardiomyopathy, extramedullary hematopoiesis, and leg ulcers were more pronounced in patients with the homozygous ß° genotype compared to the other genotypes analyzed. The knowledge of the genotype can assist in the clinical management of NTD ß-TI patients.


Asunto(s)
Genotipo , Sobrecarga de Hierro , Hierro , Talasemia beta , Humanos , Talasemia beta/genética , Talasemia beta/complicaciones , Femenino , Masculino , Adulto , Persona de Mediana Edad , Sobrecarga de Hierro/genética , Sobrecarga de Hierro/etiología , Hierro/metabolismo , Úlcera de la Pierna/etiología , Úlcera de la Pierna/genética , Hematopoyesis Extramedular/genética , Imagen por Resonancia Magnética , Miocardio/patología , Miocardio/metabolismo , Cirrosis Hepática/genética , Cirrosis Hepática/complicaciones , Homocigoto
13.
J Stroke Cerebrovasc Dis ; 33(6): 107718, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38604352

RESUMEN

INTRODUCTION: Post stroke cognitive impairment (PSCI) is a common complication of ischemic stroke. PSCI can involve different depending on clinical and stroke related characteristics. The aim of this study is to determine the factors associated with impairments in specific cognitive domains. METHODS: The Vitamins to Prevent Stroke (VITATOPS) trial is a large, multinational randomised controlled trial. In this substudy, consecutive patients admitted for ischaemic stroke or transient ischaemic attack (TIA) at a tertiary hospital in Singapore were included. PSCI was defined as impairment of any of the six cognitive subgroups - visuoconstruction, attention, verbal memory, language, visual memory and visuomotor function - that were assessed annually for up to five years. Univariate and multivariate Cox proportional hazard models were used to determine factors associated with impairments in each of these cognitive domains. RESULTS: A total of 736 patients were included in this study, of which 173 (23.5 %) developed cognitive impairment. Out of the six cognitive domains, the greatest proportion of patients had an impairment in visuoconstruction (26.4 %) followed by attention (19.8 %), verbal memory (18.3 %), language (17.5 %), visual memory (17.3 %) and visuomotor function (14.8 %). Patients with posterior circulation cerebral infarction (POCI) as the index stroke subtype had higher rates of cognitive impairment. Further subgroup analyses show that Indian race and advanced age were predictive of language impairment, whilst fewer years of education and POCI were predictive of verbal memory impairment. POCI was predictive of visual memory impairment, and advanced age and POCI were predictive of visuomotor function impairment. CONCLUSION: We identified visuoconstruction and attention domains to be the most affected in our Asian cohort of PSCI. Advanced age, lower levels of education, posterior circulation strokes and concomitant comorbidities such as peripheral artery disease are independent predictors of PSCI.


Asunto(s)
Cognición , Disfunción Cognitiva , Humanos , Masculino , Femenino , Anciano , Persona de Mediana Edad , Singapur/epidemiología , Factores de Riesgo , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Disfunción Cognitiva/epidemiología , Factores de Tiempo , Memoria , Medición de Riesgo , Pronóstico , Accidente Cerebrovascular Isquémico/diagnóstico , Accidente Cerebrovascular Isquémico/epidemiología , Pruebas Neuropsicológicas , Atención , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/complicaciones , Ataque Isquémico Transitorio/diagnóstico , Ataque Isquémico Transitorio/complicaciones , Ataque Isquémico Transitorio/psicología
14.
Food Chem Toxicol ; 188: 114635, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38582347

RESUMEN

Over 70% of United States military service members (SMs) regularly use dietary supplements (DSs) and about 18% have reported adverse effects (AEs) associated with use. This investigation examined longitudinal changes in AEs reporting among DS users. On two separate occasions 1.3 ± 0.2 years apart (mean ± standard deviation), 5778 SMs completed identical questionnaires on DS use and associated AEs. Among SMs reporting DS use ≥1 time/week, ≥1 AE was reported by 19% and 15% in the baseline and follow-up phases, respectively. The risk of reporting DS use at follow-up was similar among those reporting and not reporting AEs at baseline for most DS categories including prohormones, proteins/amino acids, individual vitamins and minerals, multivitamin/multiminerals, herbals, fish oils, joint health products, and other DSs. An exception was combination products where those reporting AEs at baseline had an increased risk of use at follow-up (risk ratio = 1.13, 95% confidence interval = 1.06-1.09). Those reporting AEs at baseline and continuing DS use in the follow-up were more likely to report AEs at follow-up compared to those not reporting baseline AEs. In conclusion, AEs reported at baseline did not deter many participants from using DSs in the follow-up period, and many SMs reporting AEs at baseline continued reporting them at follow-up.


Asunto(s)
Suplementos Dietéticos , Personal Militar , Humanos , Estados Unidos , Adulto , Masculino , Femenino , Estudios Longitudinales , Encuestas y Cuestionarios , Adulto Joven , Persona de Mediana Edad
15.
Circulation ; 149(20): 1549-1564, 2024 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-38606558

RESUMEN

BACKGROUND: Among patients with pulmonary arterial hypertension (PAH), acute vasoreactivity testing during right heart catheterization may identify acute vasoresponders, for whom treatment with high-dose calcium channel blockers (CCBs) is recommended. However, long-term outcomes in the current era remain largely unknown. We sought to evaluate the implications of acute vasoreactivity response for long-term response to CCBs and other outcomes. METHODS: Patients diagnosed with PAH between January 1999 and December 2018 at 15 pulmonary hypertension centers were included and analyzed retrospectively. In accordance with current guidelines, acute vasoreactivity response was defined by a decrease of mean pulmonary artery pressure by ≥10 mm Hg to reach <40 mm Hg, without a decrease in cardiac output. Long-term response to CCBs was defined as alive with unchanged initial CCB therapy with or without other initial PAH therapy and World Health Organization functional class I/II and/or low European Society of Cardiology/European Respiratory Society risk status at 12 months after initiation of CCBs. Patients were followed for up to 5 years; clinical measures, outcome, and subsequent treatment patterns were captured. RESULTS: Of 3702 patients undergoing right heart catheterization for PAH diagnosis, 2051 had idiopathic, heritable, or drug-induced PAH, of whom 1904 (92.8%) underwent acute vasoreactivity testing. A total of 162 patients fulfilled acute vasoreactivity response criteria and received an initial CCB alone (n=123) or in combination with another PAH therapy (n=39). The median follow-up time was 60.0 months (interquartile range, 30.8-60.0), during which overall survival was 86.7%. At 12 months, 53.2% remained on CCB monotherapy, 14.7% on initial CCB plus another initial PAH therapy, and the remaining patients had the CCB withdrawn and/or PAH therapy added. CCB long-term response was found in 54.3% of patients. Five-year survival was 98.5% in long-term responders versus 73.0% in nonresponders. In addition to established vasodilator responder criteria, pulmonary artery compliance at acute vasoreactivity testing, low risk status and NT-proBNP (N-terminal pro-B-type natriuretic peptide) levels at early follow-up correlated with long-term response and predicted survival. CONCLUSIONS: Our data display heterogeneity within the group of vasoresponders, with a large subset failing to show a sustained satisfactory clinical response to CCBs. This highlights the necessity for comprehensive reassessment during early follow-up. The use of pulmonary artery compliance in addition to current measures may better identify those likely to have a good long-term response.


Asunto(s)
Bloqueadores de los Canales de Calcio , Cateterismo Cardíaco , Hipertensión Arterial Pulmonar , Humanos , Femenino , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Hipertensión Arterial Pulmonar/tratamiento farmacológico , Hipertensión Arterial Pulmonar/fisiopatología , Hipertensión Arterial Pulmonar/diagnóstico , Hipertensión Arterial Pulmonar/mortalidad , Resultado del Tratamiento , Bloqueadores de los Canales de Calcio/uso terapéutico , Arteria Pulmonar/fisiopatología , Arteria Pulmonar/efectos de los fármacos , Adulto , Anciano , Antihipertensivos/uso terapéutico
16.
Virol J ; 21(1): 91, 2024 04 23.
Artículo en Inglés | MEDLINE | ID: mdl-38654355

RESUMEN

BACKGROUND: This study sought to examine the impact of magnesium supplementation on clinical outcomes and biochemical factors among hospitalized patients with COVID-19. METHODS: This double-blind, randomized clinical trial was conducted at Razi Hospital, Ahvaz, Iran, between September 2021 and March 2022. Participants aged 18-70 years with moderate disease severity were enrolled. Magnesium supplementation (300 mg daily) was administered to the intervention group, while the control group received a placebo. Clinical outcomes, including the need for oxygen therapy, oxygen saturation, respiratory rate, fever, hs-CRP and TNF-α levels, as well as quality of life and mental health, were assessed. Blood samples were collected to measure biochemical variables. RESULTS: The main result was the count of individuals requiring oxygen therapy. Additional outcomes comprised of oxygen saturation, respiratory rate, fever, hs-CRP and TNF-α levels, as well as quality of life and mental health. Out of 64 participants, 60 completed the study. The results showed that magnesium supplementation significantly reduced the number of patients requiring oxygen therapy (9 vs. 14; P < 0.001). Moreover, the magnesium group demonstrated improved oxygen saturation compared to the control group (4.55 ± 2.35 vs. 1.8 ± 1.67; P < 0.001). Furthermore, we observed a noteworthy enhancement in the quality of life and depression score in the magnesium group. No significant differences were observed in respiratory rate, fever, hs-CRP, and TNF-α levels (P > 0.05). CONCLUSION: The findings suggest that magnesium supplementation may have beneficial effects on clinical outcomes and arterial oxygen saturation in COVID-19 patients. More investigation is necessary to delve into its potential mechanisms and long-term effects on patient outcomes. TRIAL REGISTRATION: This study is registered on Iranian Registry of Clinical Trials (IRCT) under identifier IRCT20210413050957N1. (The registration date: May 1, 2021).


Asunto(s)
COVID-19 , Suplementos Dietéticos , Magnesio , Calidad de Vida , Humanos , Persona de Mediana Edad , Masculino , Femenino , Adulto , Magnesio/sangre , Magnesio/administración & dosificación , COVID-19/sangre , Método Doble Ciego , Irán , Anciano , Adulto Joven , SARS-CoV-2 , Adolescente , Tratamiento Farmacológico de COVID-19 , Resultado del Tratamiento , Proteína C-Reactiva/análisis , Factor de Necrosis Tumoral alfa/sangre
17.
JAMA Netw Open ; 7(4): e245295, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38625704

RESUMEN

Importance: Organized screening outreach can reduce differences in colorectal cancer (CRC) incidence and mortality between demographic subgroups. Outcomes associated with additional outreach, beyond universal outreach, are not well known. Objective: To compare CRC screening completion by race and ethnicity, age, and sex after universal automated outreach and additional personalized outreach. Design, Setting, and Participants: This observational cohort study included screening-eligible individuals aged 50 to 75 years assessed during 2019 in a community-based organized CRC screening program within the Kaiser Permanente Northern California (KPNC) integrated health care delivery setting. For KPNC members who are not up to date with screening by colonoscopy, each year the program first uses automated outreach (mailed prescreening notification postcards and fecal immunochemical test [FIT] kits, automated telephone calls, and postcard reminders), followed by personalized components for nonresponders (telephone calls, electronic messaging, and screening offers during office visits). Data analyses were performed between November 2021 and February 2023 and completed on February 5, 2023. Exposures: Completed CRC screening via colonoscopy, sigmoidoscopy, or FIT. Main Outcomes and Measures: The primary outcome was the proportion of participants completing an FIT or colonoscopy after each component of the screening process. Differences across subgroups were assessed using the χ2 test. Results: This study included 1 046 745 KPNC members. Their mean (SD) age was 61.1 (6.9) years, and more than half (53.2%) were women. A total of 0.4% of members were American Indian or Alaska Native, 18.5% were Asian, 7.2% were Black, 16.2% were Hispanic, 0.8% were Native Hawaiian or Other Pacific Islander, and 56.5% were White. Automated outreach significantly increased screening participation by 31.1%, 38.1%, 29.5%, 31.9%, 31.8%, and 34.5% among these groups, respectively; follow-up personalized outreach further significantly increased participation by absolute additional increases of 12.5%, 12.4%, 13.3%, 14.4%, 14.7%, and 11.2%, respectively (all differences P < .05 compared with White members). Overall screening coverage at the end of the yearly program differed significantly among members who were American Indian or Alaska Native (74.1%), Asian (83.5%), Black (77.7%), Hispanic (76.4%), or Native Hawaiian or Other Pacific Islander (74.4%) compared with White members (82.2%) (all differences P < .05 compared with White members). Screening completion was similar by sex; older members were substantially more likely to be up to date with CRC screening both before and at the end of the screening process. Conclusions and Relevance: In this cohort study of a CRC screening program, sequential automated and personalized strategies each contributed to substantial increases in screening completion in all demographic groups. These findings suggest that such programs may potentially reduce differences in CRC screening completion across demographic groups.


Asunto(s)
Neoplasias Colorrectales , Detección Precoz del Cáncer , Femenino , Humanos , Masculino , Estudios de Cohortes , Neoplasias Colorrectales/diagnóstico , Persona de Mediana Edad , Anciano , Grupos Raciales , Etnicidad
18.
JMIR Ment Health ; 11: e55552, 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38663011

RESUMEN

BACKGROUND: Heart rate variability (HRV) biofeedback is often performed with structured education, laboratory-based assessments, and practice sessions. It has been shown to improve psychological and physiological function across populations. However, a means to remotely use and monitor this approach would allow for wider use of this technique. Advancements in wearable and digital technology present an opportunity for the widespread application of this approach. OBJECTIVE: The primary aim of the study was to determine the feasibility of fully remote, self-administered short sessions of HRV-directed biofeedback in a diverse population of health care workers (HCWs). The secondary aim was to determine whether a fully remote, HRV-directed biofeedback intervention significantly alters longitudinal HRV over the intervention period, as monitored by wearable devices. The tertiary aim was to estimate the impact of this intervention on metrics of psychological well-being. METHODS: To determine whether remotely implemented short sessions of HRV biofeedback can improve autonomic metrics and psychological well-being, we enrolled HCWs across 7 hospitals in New York City in the United States. They downloaded our study app, watched brief educational videos about HRV biofeedback, and used a well-studied HRV biofeedback program remotely through their smartphone. HRV biofeedback sessions were used for 5 minutes per day for 5 weeks. HCWs were then followed for 12 weeks after the intervention period. Psychological measures were obtained over the study period, and they wore an Apple Watch for at least 7 weeks to monitor the circadian features of HRV. RESULTS: In total, 127 HCWs were enrolled in the study. Overall, only 21 (16.5%) were at least 50% compliant with the HRV biofeedback intervention, representing a small portion of the total sample. This demonstrates that this study design does not feasibly result in adequate rates of compliance with the intervention. Numerical improvement in psychological metrics was observed over the 17-week study period, although it did not reach statistical significance (all P>.05). Using a mixed effect cosinor model, the mean midline-estimating statistic of rhythm (MESOR) of the circadian pattern of the SD of the interbeat interval of normal sinus beats (SDNN), an HRV metric, was observed to increase over the first 4 weeks of the biofeedback intervention in HCWs who were at least 50% compliant. CONCLUSIONS: In conclusion, we found that using brief remote HRV biofeedback sessions and monitoring its physiological effect using wearable devices, in the manner that the study was conducted, was not feasible. This is considering the low compliance rates with the study intervention. We found that remote short sessions of HRV biofeedback demonstrate potential promise in improving autonomic nervous function and warrant further study. Wearable devices can monitor the physiological effects of psychological interventions.


Asunto(s)
Biorretroalimentación Psicológica , Frecuencia Cardíaca , Dispositivos Electrónicos Vestibles , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Biorretroalimentación Psicológica/métodos , Biorretroalimentación Psicológica/instrumentación , Personal de Salud , Frecuencia Cardíaca/fisiología , Ciudad de Nueva York , Estudios Prospectivos , Telemedicina/métodos , Telemedicina/instrumentación
19.
Contemp Clin Trials ; 141: 107524, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38604496

RESUMEN

BACKGROUND: Multisystem functional somatic disorder is characterized by specific patterns of persistent physical symptoms with a complex biopsychosocial etiology. The disorder can lead to disability and personal suffering. Current treatment options require specialized settings, therefore patients often wait a long time to receive specific treatment. Patient education is considered important in most treatment programs, but has only been investigated sparsely as a stand-alone treatment. Pharmacological treatment is limited to tricyclic antidepressants in low doses with no antidepressant properties. Duloxetine has been found effective in single organ functional disorders. As a treatment for multisystem functional somatic disorder, duloxetine could reduce symptoms and treat comorbid anxiety and depression. It may furthermore enhance the effect of patient education through a hypothesized effect on cognitive functioning. The purpose of the EDULOX trial is to study psycho-EDUcation and duLOXetine alone and in combination. METHODS: This is a nested study design. The parent trial "EDULOX1" (n = 424) will compare a patient education program with enhanced usual care in an open-labelled, randomized controlled trial. In addition to this, eligible participants will furthermore receive either duloxetine or active placebo in the nested, double-blinded, randomized controlled trial, "EDULOX2" (n = 212). Patient and clinician reported outcomes will be collected through questionnaires. CONCLUSION: The EDULOX trial may establish evidence for treatments applicable for the majority of patients with multisystem functional somatic disorder. If effective, duloxetine would be a more tolerable pharmacological treatment option that can target comorbid depression and anxiety, and potentially boost the effect of patient education. Trial registration number The study is registered at www. CLINICALTRIALS: gov (NCT06232473) and the internal list of research projects at the Region of Central Denmark (Case number 1-16-02-305-23). Approval from the Danish Medical Research Ethics Committees (Case number: 2212291) and the Danish Medicines Agency was obtained under EudraCT Number: 2022-002780-30 and Sponsor's Protocol Code Number: 9515.


Asunto(s)
Depresión , Clorhidrato de Duloxetina , Educación del Paciente como Asunto , Clorhidrato de Duloxetina/uso terapéutico , Clorhidrato de Duloxetina/administración & dosificación , Humanos , Educación del Paciente como Asunto/métodos , Depresión/tratamiento farmacológico , Ansiedad/tratamiento farmacológico , Antidepresivos/uso terapéutico , Antidepresivos/administración & dosificación , Adulto , Femenino , Masculino , Terapia Combinada , Calidad de Vida , Persona de Mediana Edad
20.
Contemp Clin Trials ; 141: 107523, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38608752

RESUMEN

INTRODUCTION: Intensive weight management programs are effective but often have low enrollment and high attrition. Lack of motivation is a key psychological barrier to enrollment, engagement, and weight loss. Mental Contrasting with Implementation Intentions (MCII) is a unique imagery technique that increases motivation for behavior change. We describe our study protocol to assess the efficacy and implementation of MCII to enhance the effectiveness of VA's MOVE! or TeleMOVE! weight management programs using a procedure called "WOOP" (Wish, Outcome, Obstacle, Plan) for Veterans. We hypothesize that WOOP+MOVE! or TeleMOVE! (intervention) will lead to greater MOVE!/TeleMOVE! program engagment and consequently weight loss than MOVE!/TeleMOVE! alone (control). METHOD: Veterans are randomized to either the intervention or control. Both arms receive the either MOVE! or TeleMOVE! weight management programs. The intervention group receives an hour long WOOP training while the control group receives patient education. Both groups receive telephone follow up calls at 3 days, 4 weeks, and 2 months post-baseline. Eligible participants are Veterans (ages 18-70 years) with either obesity (BMI ≥ 30 kg/m2) or overweight (BMI ≥ 25 kg/m2) and an obesity-associated co-morbidity. At baseline, 6 and 12 months, we assess weight, diet, physical activity in both groups. The primary outcome is mean percent weight change at 6 months. Secondary outcomes include changes in waist circumference, diet, physical activity, and dieting self-efficacy and engagement in regular physical activity. We assess implementation using the RE-AIM framework. CONCLUSION: If WOOP VA is found to be efficacious, it will be an important tool to facilitate weight management and improve weight outcomes. CLINICAL TRIAL REGISTRATION: NCT05014984.


Asunto(s)
Intención , Motivación , Veteranos , Programas de Reducción de Peso , Humanos , Programas de Reducción de Peso/métodos , Programas de Reducción de Peso/organización & administración , Estudios Prospectivos , Veteranos/psicología , Ejercicio Físico , Pérdida de Peso , Persona de Mediana Edad , Masculino , Femenino , Adulto , Obesidad/terapia , Estados Unidos , Educación del Paciente como Asunto/métodos , Educación del Paciente como Asunto/organización & administración , Anciano , United States Department of Veterans Affairs , Índice de Masa Corporal
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