Examinando por Autor "Angelini, Corrado"

Mostrando 1 - 4 de 4
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    Effects of coping strategies on health-related quality of life of people with neuromuscular diseases
    (Multidisciplinary Digital Publishing Institute (MDPI), 2024-04-03) García Urquiza, Irune; Rodríguez Bermejo, Alicia Aurora; Angelini, Corrado; García Sanchoyerto, Maddalen; Espinosa Blanco, Patricia; Martínez, Óscar
    Neuromuscular diseases (NMD) cover a broad spectrum of different rare diagnoses in which the primary lesion is in the peripheral nervous system. The impairment caused by an NMD does not only interfere with physical status but also has a clear impact on health-related quality of life (HRQoL). It is therefore essential to know the coping style used by these patients. This study aims to analyze the coping strategies in a sample of people with NMD and how their coping style affects their HRQoL. This cross-sectional study included 61 adult patients diagnosed with a rare NMD. WHO-DAS II, SIP, SF-36, and COPE-60 instruments were administered. The results showed that people affected by NMDs tend to use more frequent coping strategies such as active planning, personal growth, and acceptance. In contrast, the least-used strategies were restraint, mental disengagement, venting, humor, and religion, which affected HRQoL negatively. Moreover, the degree of disability was a relevant variable, with an impact on HRQoL. Social support can be considered the main coping strategy that leads to an improvement in the psychosocial HRQoL (β = 503, p < 0.001). These findings are relevant to clinical practice, given the need to understand the coping variable to improve HRQoL.
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    Limb–girdle muscular dystrophy D2 TNPO3-Related: a quality of life study
    (Multidisciplinary Digital Publishing Institute (MDPI), 2023-07-24) Rodríguez Bermejo, Alicia Aurora ; Amayra Caro, Imanol ; García Urquiza, Irune ; Angelini, Corrado
    The present study is the first research that analyzes the quality of life (QoL) of people affected by a dominant form of limb–girdle muscular dystrophy, specifically limb–girdle muscular dystrophy D2 (LGMD-D2). Additionally, clinical forms of the individual cases of the six affected patients are presented. This study also aims to explore the differences between patients’ reports and caregivers’ reports, and between LGMD-D2 and recessive forms of LGMD. The instruments used were as follows: sociodemographic data, GSGC, and INQoL instrument. The sample consisted of six people affected by LGMD-D2: three caregivers of three affected people, and three patients with recessive LGMD. They came from associations of affected people and a hospital in Padua. Those affected have multiple symptoms that lead to disability, which ultimately leads to dependence on the assistance. The present study shows that LGMD-D2 has a greater impact on activities of daily living, fatigue, muscle pain, and independence than other LGMD pathologies or other neuromuscular diseases. It also appears that age could influence QoL, and that muscle weakness is a very disabling symptom in this variant. In the current context of constantly developing research for new treatments, it is essential to analyze which aspects are most affected. Finally, caregivers can play an essential role in symptom reporting, as certain psychological adjustment mechanisms in the patient may be interfering with the objectivity of the report.
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    Two cases of myofibrillar myopathies: genetic and quality of life study
    (Multidisciplinary Digital Publishing Institute (MDPI), 2023-04-06) Angelini, Corrado; Ceolin,Chiara; Rodríguez Bermejo, Alicia Aurora ; Nigro, Vincenzo
    We describe two cases of myofibrillar myopathies, due to different gene mutations. The first was a girl with cardiomyopathy and sensory axonal neuropathy that underwent cardiac transplantation at 15 years and suffers from rotatory scoliosis due to BAG3 mutation. The second is a male patient, with evident limb-girdle weakness since age 3. Two muscle biopsies were performed at ages 3 and 15, with muscle MRI, and LDB3 gene sequence analysis also carried out. Muscle biopsies revealed the presence of dystrophic changes in the first biopsy and myopathic abnormalities in the second, and the MRI images of the lower limbs showed an asymmetrical involvement in the thigh of quadriceps muscles and in the calf of gastrocnemius muscles. The patient was responsive to treatment with an intermittent steroid regimen and muscle-strengthening exercises. Considerations on both muscle–bone interaction and psychological and socioeconomic conditions are carried out for both cases.
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    An update of clinical, epidemiological, and psychosocial features in Gamma-Sarcoglycanopathy
    (Multidisciplinary Digital Publishing Institute (MDPI), 2023-04-03) Chabbi, Naoufel ; Angelini, Corrado; Rodríguez Bermejo, Alicia Aurora
    Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding muscle proteins that are defective for heterozygous and homozygous mutations prevalent in certain regions. Advances in knowledge of their pathophysiology have shed light on these rare diseases, which were, until recently, difficult to diagnose. This paper has described the process of diagnosis in autosomal recessive limb-girdle dystrophy that in Tunisia are due to the c.521del mutation in gamma-sarcoglycanopathy and to ethnically specific mutations in other countries such as Italy. The epidemiology, pathophysiology clinical features, and the main socioeconomic needs as well as research progress are discussed. We discuss an Italian case for its psychosocial impact and socioeconomic consideration and compare this case with Tunisian patients.