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1.
Reumatismo ; 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39352271

RESUMEN

OBJECTIVE: Rheumatic musculoskeletal diseases (RMDs) are the causes of frequent absence from work and loss of productivity. As (in)visible diseases, it is up to the individuals to decide if disclosing their diagnosis, with important repercussions also within the workplace. Still little is known about disease disclosure in the workplace (DD-W) in patients with RMDs. This study aimed to investigate socio-demographic, clinical, and psychological predictors of DD-W among working patients with RMDs. METHODS: A cross-sectional Italian national study captured DD-W in people with RMDs. An online survey was developed using ad-hoc questions and scientific questionnaires to explore demographics and work-related, clinical, and psychological factors. Stepwise logistic regressions were run to identify significant predictors of DD-W. RESULTS: A total of 250 working rheumatic patients completed the survey; 81.2% of the participants enacted DD-W. DD-W behaviors were predicted by perceived visibility of the RMD (p=0.008), work type (p=0.022), general DD behaviors (p<0.001), and perceived family support (p=0.023). Among RMD patients, psoriatic arthritis participants had higher probabilities of DD-W (p=0.02), whereas lower probabilities were detected in fibromyalgia patients (p=0.003). Lower disease duration corresponded in the sample to higher probabilities of DD-W (p=0.036). CONCLUSIONS: The majority of RMD patients in this study enacted DD-W. DD-W was associated with medical, occupational, and psychological factors, supporting the multidimensionality of the process. Further research on the subject might help foster better DD-W decision-making processes for RMD patients while promoting intervention strategies in education, policy, and culture.

2.
Artículo en Inglés | MEDLINE | ID: mdl-31852251

RESUMEN

Objective: Angiogenin (ANG) is a pro-angiogenic and neurotrophic factor with an important role in stress-induced injury, by promoting neovascularization and neuronal survival. Identification of loss-of-function mutations and evidence of beneficial effect of ANG administration in transgenic SOD1G93A mice have linked ANG to the pathogenesis of Amyotrophic Lateral Sclerosis (ALS), stimulating interest in considering circulating ANG levels as an ALS disease biomarker although robust evidence is still lacking. Aim of our study was to assess differences of ANG levels in the cerebrospinal fluid (CSF) of a large cohort of patients with ALS and frontotemporal dementia (FTD) compared to controls and to explore correlations between ANG content and disease-related clinical variables. Methods: ANG levels were measured in CSF samples using a commercially available ELISA kit in 88 patients affected with ALS and/or FTD and 46 unrelated individuals (control group). Results: ANG levels didn't differ significantly between cases and controls. Patients with FTD or ALS-FTD showed significantly increased CSF concentration of ANG compared to ALS patients without dementia and controls in a multivariate regression model (p < 0.001). No correlations were found in ALS/FTD patients between ANG levels and clinical parameters, including age, presence of C9orf72 repeat expansion, body mass index (BMI). Conclusions: our findings highlight a role of ANG as CSF biomarker useful to identify ALS patients with concurrent FTD and suggest that it should be further explored as potential biomarker for FTD.


Asunto(s)
Esclerosis Amiotrófica Lateral/líquido cefalorraquídeo , Proteína C9orf72/líquido cefalorraquídeo , Demencia Frontotemporal/líquido cefalorraquídeo , Ribonucleasa Pancreática/líquido cefalorraquídeo , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/genética , Animales , Proteína C9orf72/genética , Estudios de Cohortes , Demencia Frontotemporal/diagnóstico , Demencia Frontotemporal/genética , Humanos , Masculino , Ratones Transgénicos
3.
Behav Neurol ; 19(4): 169-75, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-19096141

RESUMEN

The present study aims to demonstrate that errors when writing are more common than expected in patients affected by primary lateral sclerosis (PLS) with severe dysarthria or complete mutism, independent of spasticity. Sixteen patients meeting Pringle's et al. [34] criteria for PLS underwent standard neuropsychological tasks and evaluation of writing. We assessed writing abilities in spelling through dictation in which a set of words, non-words and short phrases were presented orally and by composing words using a set of preformed letters. Finally, a written copying task was performed with the same words. Relative to controls, PLS patients made a greater number of spelling errors in all writing conditions, but not in copy task. The error types included: omissions, transpositions, insertions and letter substitutions. These were equally distributed on the writing task and the composition of words with a set of preformed letters. This pattern of performance is consistent with a spelling impairment. The results are consistent with the concept that written production is critically dependent on the subvocal articulatory mechanism of rehearsal, perhaps at the level of retaining the sequence of graphemes in a graphemic buffer. In PLS patients a disturbance in rehearsal opportunity may affect the correct sequencing/assembly of an orthographic representation in the written process.


Asunto(s)
Agrafia/complicaciones , Disartria/complicaciones , Procesos Mentales , Enfermedad de la Neurona Motora/complicaciones , Anciano , Anciano de 80 o más Años , Agrafia/diagnóstico , Disartria/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de la Neurona Motora/patología , Mutismo/complicaciones , Mutismo/patología
4.
Am Surg ; 65(3): 218-21, 1999 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-10075295

RESUMEN

An 82-year-old black woman with a history of hepatocellular carcinoma presented with gastrointestinal bleeding. Barium enema and fibrocolonoscopy revealed a 4-cm polypoid mass at the level of the ascending colon with evidence of active bleeding. Biopsies of the lesion proved it to be metastatic hepatocellular carcinoma. Exploratory laparotomy revealed no further dissemination of the tumor, and the patient underwent an ileocolectomy. The serosal side of the colonic lesion was free from tumor, and there was no peritoneal implantation, direct extension, or lymph node involvement. This case represents an extremely rare presentation of metastatic hepatocellular carcinoma.


Asunto(s)
Carcinoma Hepatocelular/complicaciones , Carcinoma Hepatocelular/secundario , Neoplasias del Colon/complicaciones , Neoplasias del Colon/secundario , Hemorragia Gastrointestinal/etiología , Neoplasias Hepáticas/patología , Anciano , Anciano de 80 o más Años , Femenino , Humanos
5.
Ann Otol Rhinol Laryngol ; 107(1): 17-21, 1998 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-9439383

RESUMEN

We report a rare case of a primary intracranial B cell lymphoma originating in the internal auditory canal. The clinical manifestations were indistinguishable from those of other, more common tumors of the same region. We achieved total gross tumor removal with preservation of the facial nerve. A detailed histologic examination and a systemic workup confirmed the primary nature of this tumor. To our knowledge, this is the second case reported in the literature of a primary malignant lymphoma originating in the internal auditory canal. This is the first instance that includes immunohistochemical and cytometric studies of fresh tissue. We discuss the management of primary lymphomas of the central nervous system, with special emphasis on their association with acquired immunodeficiency syndrome and other immune system diseases. Awareness of primary central nervous system lymphomas is important, since a greater occurrence of these rare tumors in the cerebellopontine angle is probable in the future.


Asunto(s)
Conducto Auditivo Externo/patología , Neoplasias del Oído/patología , Linfoma de Células B/patología , Linfoma de Células B Grandes Difuso/patología , Conducto Auditivo Externo/cirugía , Neoplasias del Oído/complicaciones , Neoplasias del Oído/cirugía , Femenino , Citometría de Flujo , Pérdida Auditiva Sensorineural/etiología , Humanos , Inmunohistoquímica , Linfoma de Células B/complicaciones , Linfoma de Células B/cirugía , Linfoma de Células B Grandes Difuso/complicaciones , Linfoma de Células B Grandes Difuso/cirugía , Persona de Mediana Edad
6.
Case Rep Neurol Med ; 2011: 696953, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22937345

RESUMEN

Huntington's disease (HD) is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. Single-photon emission computed tomography (SPECT) imaging of the dopamine transporter showed nigrostriatal pathway degeneration. Here, we also describe his 2 years of clinical followup after ensuing dopaminergic stimulation.

9.
Am J Med Genet B Neuropsychiatr Genet ; 144B(4): 574-7, 2007 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-17427191

RESUMEN

Huntington's disease (HD) is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms and by a progressive degeneration of neurons in basal ganglia and in brain cortex. Brain-derived neurotrophic factor (BDNF) is a pro-survival factor for striatal neurons. Some evidence implicates a brain BDNF deficiency, related to mutated huntingtin expression, in the selective vulnerability of striatal neurons in HD. We compared BDNF serum levels in 42 patients with HD (range 28-72 years, mean age 51.9 +/- 11.5), and 42 age-matched healthy subjects (range 25-68 years, mean age 48.2 +/- 12.5). We evaluated the potential relationship between BDNF serum levels, CAG repeat number (range 40-54, mean 44.8 +/- 3.4) and duration of illness (range 6-228 months, mean 103.6 +/- 62.1). Serum BDNF levels were significantly lower in patients than in age-matched healthy subjects. Lower BDNF levels were associated with a longer CAG repeat length and a longer duration of illness. Severity of the illness, as assessed by the Unified Huntington's Disease Rating Scale (UHDRS) motor and cognitive scores, was negatively related to serum BDNF levels. These results in vivo confirm that the huntingtin mutation causes BDNF production to decline and show that the BDNF deficiency is detectable in HD patients' sera. Further studies on a larger sample size should confirm whether BDNF concentrations in patients' serum could be a useful clinical marker related to the patients' disease phenotype.


Asunto(s)
Factor Neurotrófico Derivado del Encéfalo/sangre , Enfermedad de Huntington/sangre , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis de Regresión
10.
J Am Soc Nephrol ; 9(7): 1301-8, 1998 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-9644642

RESUMEN

Diagnosis of allograft dysfunction relies on the assessment of arterial lesions. This study was designed to evaluate the prognostic significance of common specific vascular lesions in acute allograft rejection. Renal allograft biopsies (n = 111) with acute cellular rejection were scored for endarteritis, mononuclear cell adherence to endothelial cells, endothelial activation, fibrinoid necrosis, foam cells, and intimal fibrosis. These vascular lesions and other classic histologic features were correlated with outcome. Rejection with endarteritis (found in 54% of biopsies) was less responsive to steroid treatment than rejection without endarteritis, as judged by recovery of creatinine in 3 wk (P = 0.03). Larger numbers of sampled arteries improved the predictive accuracy. Sticking of mononuclear cells to endothelial cells also correlated with steroid resistance (P < 0.05). Rejection with or without endarteritis responded to OKT3/antithymocyte globulin treatment equally well (61% versus 65%, respectively). Rejection with fibrinoid arterial necrosis (4% of biopsies) did not respond to either steroids or antibodies (0%). One-year graft failure was 21% without endarteritis, 28% with endarteritis, and 100% with fibrinoid necrosis. Activated endothelial cells and interstitial hemorrhage were associated with endarteritis and graft failure (all P < 0.05). None of the other scored features had any statistically significant correlation with outcome. Thus, specific arterial lesions (endarteritis, fibrinoid necrosis, activated endothelial cells, mononuclear cell margination) and interstitial hemorrhage, but not the extent of the interstitial infiltrate or tubulitis, are correlated with response to antirejection therapy and/or 1-yr clinical outcome. Grading systems for therapeutic trials and clinical management should emphasize scoring of specific vascular lesions.


Asunto(s)
Endarteritis/patología , Rechazo de Injerto/etiología , Trasplante de Riñón/efectos adversos , Enfermedad Aguda , Análisis de Varianza , Arterias/patología , Arteriolas/patología , Biopsia con Aguja , Endarteritis/etiología , Endotelio Vascular/patología , Rechazo de Injerto/patología , Humanos , Incidencia , Necrosis , Pronóstico , Estudios Retrospectivos , Sensibilidad y Especificidad , Factores de Tiempo , Trasplante Homólogo/patología , Enfermedades Vasculares/etiología , Enfermedades Vasculares/patología
11.
Z Krankenpfl ; 67(7): 286-7, 1974 Jul.
Artículo en Italiano | MEDLINE | ID: mdl-4496169
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