RESUMO
Aim: To explore the reasons for Italian midwives' decision to migrate, and their lived professional and emotional experiences. Methods: A descriptive phenomenological study was conducted recruiting Italian midwives who were working abroad in European countries. We offered a telephone or web interview. Two researchers conducted, audio-recorded, and fully transcribed the interviews and other two researchers, independently, performed a content analysis. Results: Thirty-two midwives having professional experiences in the UK, Ireland, Germany, Switzerland, and Spain were interviewed. Five themes emerged: 1) Education, 2) Migration decision-making, 3) Professional experience abroad, 4) Midwives' perceptions of their role, 5) Satisfaction versus desire to return. Our findings show a general dissatisfaction with Italian job opportunities in terms both of access to employment and work conditions. This scenario is complicated by the status of the professional midwifery in Italy. Conclusion: Stakeholders should ensure that the migration of Italian midwives is not synonymous with dispersion but is a channel of professional growth and mutual exchange.
Assuntos
Tocologia , Enfermeiros Obstétricos , Gravidez , Humanos , Feminino , Enfermeiros Obstétricos/psicologia , Pesquisa Qualitativa , Europa (Continente) , ItáliaRESUMO
BACKGROUND: IgM-related neuropathy generally presents as a late-onset demyelinating polyneuropathy with predominant sensory loss and ataxia. Sporadic cases with atypical presentation have been described. PATIENTS AND METHODS: We report clinical and pathological findings from 31 patients with IgM-related neuropathy followed in our Institute of Neurology over a 20-year period. RESULTS: Typical presentation with predominant sensory ataxic neuropathy was observed in 18/31 patients. In the remaining 13/31 (42%), we observed an atypical phenotype, characterized by multiple mononeuropathy or polyneuropathy with predominant motor impairment; one patient had polyneuropathy with predominant small-fibre involvement. Uncommon pathological findings consisting in inflammatory infiltrates, focal axonal loss or light chain deposition were observed in 8 patients, all with atypical clinical phenotype. Almost all patients with atypical phenotype improved with immunosuppressive therapy. CONCLUSIONS: A significant proportion of patients with IgM-related neuropathy presents with atypical clinical features. In these patients, sural nerve biopsy helps clarify heterogeneous disease mechanisms and identify patients who might benefit from immunosuppressive therapy.
Assuntos
Imunoglobulina M/imunologia , Condução Nervosa/fisiologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/patologia , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Ataxia/imunologia , Ataxia/patologia , Ataxia/fisiopatologia , Feminino , Humanos , Masculino , Nervo Mediano/patologia , Nervo Mediano/fisiopatologia , Pessoa de Meia-Idade , Fenótipo , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/imunologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/fisiopatologia , Estudos Retrospectivos , Nervo Sural/patologia , Nervo Sural/fisiopatologiaAssuntos
Disgenesia Gonadal 46 XY/complicações , Doenças do Sistema Nervoso Periférico/complicações , Potenciais de Ação/fisiologia , Biópsia , Feminino , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/patologia , Humanos , Cariotipagem , Pessoa de Meia-Idade , Exame Neurológico , Nervos Periféricos/patologia , Doenças do Sistema Nervoso Periférico/genética , Doenças do Sistema Nervoso Periférico/patologia , Nervo Sural/patologiaRESUMO
We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.
Assuntos
Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/genética , Estudos de Associação Genética , Mutação/genética , Superóxido Dismutase/genética , Idoso , Substituição de Aminoácidos/genética , Ácido Aspártico/genética , Feminino , Estudos de Associação Genética/métodos , Humanos , Pessoa de Meia-Idade , Superóxido Dismutase-1 , Tirosina/genéticaRESUMO
Mutations in the gene encoding mitofusin 2 (MFN2) are responsible of about 20% of Charcot-Marie-Tooth disease type 2 (CMT2) case. A great variability exists among CMT2A concerning severity and associated clinical features. Generally patients with an early onset CMT2A disclose a severe phenotype while the cases with a late onset present a more benign clinical course. We describe clinical, electrophysiological and pathological findings of a patient with a mild CMT2A due to the c.2213C>T, p.Ala738Val MFN2 mutation. This mutation has been already described to be only associated with an early onset and moderately severe CMT2A phenotype.
Assuntos
Doença de Charcot-Marie-Tooth , GTP Fosfo-Hidrolases/genética , Proteínas Mitocondriais/genética , Mutação Puntual/genética , Nervo Sural/patologia , Nervo Sural/fisiopatologia , Adulto , Alanina/genética , Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/patologia , Doença de Charcot-Marie-Tooth/fisiopatologia , Eletrodiagnóstico/métodos , Feminino , Humanos , Condução Nervosa/genética , Valina/genéticaRESUMO
Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II. We describe an Italian patient with wasting and weakness of distal muscles, involving primarily and mostly the lower limbs and later the upper limbs, in which a novel mutation of HSPB1, T180I, was detected. Electrophysiological evaluation disclosed a pure motor axonal neuropathy. Sural nerve biopsy showed a mild reduction of myelinated fibre density. All these findings suggested a CMT2/dHMN phenotype.