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2.
Neurologia (Engl Ed) ; 38(6): 379-386, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37120112

RESUMO

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.


Assuntos
Ataxia Cerebelar , Paraplegia Espástica Hereditária , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Paraplegia Espástica Hereditária/epidemiologia , Paraplegia Espástica Hereditária/genética , Estudos Transversais , Estudos Retrospectivos , Espanha/epidemiologia
3.
Neurología (Barc., Ed. impr.) ; 38(2): 106-113, marzo 2023. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-216509

RESUMO

Introducción: El manejo de la epilepsia durante la gestación requiere un control óptimo de las crisis, evitando los potenciales efectos teratogénicos del tratamiento antiepiléptico.ObjetivosDescribir las características clínicas y los resultados perinatales de las pacientes con epilepsia gestantes. Analizar los factores que se asocian a la presencia de crisis durante la gestación. Describir los fármacos antiepilépticos más utilizados y analizar los cambios en el régimen terapéutico en dos periodos: de 2000-2010 y 2011-2018.MétodosSe realizó un estudio prospectivo observacional de pacientes con epilepsia que notificaron su gestación en el periodo de 2000-2018. Se evaluó a las pacientes en el primer y segundo trimestre de gestación, tras el parto y al año. Se recogieron variables demográficas, relacionadas con la epilepsia, perinatales y obstétricas.ResultadosSe incluyeron 101 gestaciones. La edad media fue de 32,6 años, el 55,4% tenía una epilepsia focal, el 38,6% una epilepsia generalizada y el 5,9% indeterminada. Se registraron 90 nacidos vivos, nueve abortos espontáneos y cinco malformaciones congénitas, cuatro de ellas en monoterapia con valproato. En 40 gestaciones (39,6%) se registraron crisis, siendo tónico-clónicas generalizadas en 16 (40%). Las variables asociadas con la presencia de crisis durante el embarazo fueron el mal control el año previo a la gestación (66,7% vs. 15,1%, p < 0,001), el tratamiento con dos o más fármacos antiepilépticos (30% vs. 14,8% p < 0,001) y no recibir tratamiento (25% vs. 0% p < 0,001). Los fármacos antiepilépticos más utilizados en monoterapia fueron lamotrigina (n = 19, 27,1%), valproato (n = 17, 24,2%) y levetiracetam (n = 12, 17,1%). En el periodo más reciente (2011-2018) se encontró una mayor proporción de monoterapias (81,5% vs. 55,3%), además de un descenso en el uso de carbamazepina (23,1% vs. 2,3%) y valproato (30,8% vs. 20,5%); y un aumento marcado de levetiracetam (0% vs. 27,3%). (AU)


Introduction: The management of epilepsy during pregnancy requires optimal seizure control, avoiding the potential teratogenic effects of antiepileptic drugs.ObjectivesThis study aims to describe the clinical characteristics and perinatal outcomes of pregnant patients with epilepsy; to analyse the factors associated with seizures during pregnancy; to describe the most commonly used antiepileptic drugs in these patients; and to analyse changes in treatment regimens in 2 periods, 2000-2010 and 2011-2018.MethodsWe conducted a prospective observational study of patients with epilepsy who reported their pregnancy between 2000 and 2018. Patients were evaluated in the first and second trimesters of pregnancy, after delivery, and at one year. Data were collected on demographic variables, epilepsy, and perinatal and obstetric variables.ResultsA total of 101 pregnancies were included. Patients’ mean age was 32.6 years; 55.4% had focal epilepsy, 38.6% had generalised epilepsy, and 5.9% had undetermined epilepsy. We recorded 90 live births, 9 miscarriages, and 5 cases of congenital malformations, 4 of which were born to women who received valproate monotherapy. Forty patients (39.6%) presented seizures, with 16 (40%) presenting generalised tonic-clonic seizures. The variables associated with seizures during pregnancy were poor seizure control in the year prior to pregnancy (66.7% vs. 15.1%; P < .001), treatment with 2 or more antiepileptic drugs (30% vs. 14.8%; P < .001), and untreated epilepsy (25% vs. 0%; P < .001). The antiepileptic drugs most widely used in monotherapy were lamotrigine (n = 19; 27.1%), valproate (n = 17; 24.2%), and levetiracetam (n = 12; 17.1%). In the most recent period (2011-2018), we observed a greater proportion patients receiving monotherapy (81.5%, vs. 55.3%), as well as a decrease in the use of carbamazepine (2.3%, vs. 23.1%) and valproate (20.5%, vs. 30.8%); and a marked increase in the use of levetiracetam (27.3%, vs. 0%). (AU)


Assuntos
Humanos , Epilepsia , Gravidez , Doenças do Sistema Nervoso , Convulsões
4.
Neurologia (Engl Ed) ; 38(2): 106-113, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36162697

RESUMO

INTRODUCTION: The management of epilepsy during pregnancy requires optimal seizure control, avoiding the potential teratogenic effects of antiepileptic drugs. OBJECTIVES: This study aims to describe the clinical characteristics and perinatal outcomes of pregnant patients with epilepsy; to analyse the factors associated with seizures during pregnancy; to describe the most commonly used antiseizure drugs in these patients; and to analyse changes in treatment regimens in 2 periods, 2000-2010 and 2011-2018. METHODS: We conducted a prospective observational study of patients with epilepsy who reported their pregnancy between 2000 and 2018. Patients were evaluated in the first and second trimesters of pregnancy, after delivery, and at one year. Data were collected on demographic variables, epilepsy, and perinatal and obstetric variables. RESULTS: A total of 101 pregnancies were included. Patients' mean age was 32.6 years; 55.4% had focal epilepsy, 38.6% had generalised epilepsy, and 5.9% had undetermined epilepsy. We recorded 90 live births, 9 miscarriages, and 5 cases of congenital malformations, 4 of which were born to women who received valproate monotherapy. Forty patients (39.6%) presented seizures, with 16 (40%) presenting generalised tonic-clonic seizures. The variables associated with seizures during pregnancy were poor seizure control in the year prior to pregnancy (66.7% vs 15.1%; P < .001), treatment with 2 or more antiseizure drugs (30% vs 14.8%; P < .001), and untreated epilepsy (25% vs 0%; P < .001). Antiseizure medications most widely used in monotherapy were lamotrigine (n = 19; 27.1%), valproate (n = 17; 24.2%), and levetiracetam (n = 12; 17.1%). In the most recent period (2011-2018), we observed a greater proportion of patients receiving monotherapy (81.5%, vs 55.3%), as well as a decrease in the use of carbamazepine (2.3%, vs 23.1%) and valproate (20.5%, vs 30.8%); and a marked increase in the use of levetiracetam (27.3%, vs 0%). CONCLUSIONS: The factors associated with the presence of seizures during pregnancy were previous poor seizure control, treatment with 2 or more antiseizure drugs, and lack of treatment during pregnancy. The most commonly used drugs were lamotrigine, valproate, and levetiracetam, with an increase in levetiracetam use and a decrease in valproate use being observed in the later period (2011-2018).


Assuntos
Epilepsia , Ácido Valproico , Gravidez , Humanos , Feminino , Adulto , Lamotrigina/efeitos adversos , Levetiracetam/efeitos adversos , Ácido Valproico/efeitos adversos , Epilepsia/tratamento farmacológico , Anticonvulsivantes/efeitos adversos , Convulsões/tratamento farmacológico
5.
Actas Dermosifiliogr ; 113(5): 459-466, 2022 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35697405

RESUMO

BACKGROUND AND OBJECTIVE: Psoriasis is a multisystem disease associated with an increased prevalence of oral lesions. The aim of this study was to determine the prevalence of oral lesions in patients with psoriasis and examine associations with clinical and patient characteristics. MATERIAL AND METHODS: We conducted a cross-sectional study of patients with psoriasis and healthy controls seen between December 2019 and February 2020. We recorded biometric data, comorbidities associated with psoriasis, oral examination findings, and clinical characteristics of psoriasis. RESULTS: We studied 100 patients with psoriasis and 100 controls. Oral lesions were more common in the psoriasis group (74% vs 46%, P<.001). The most common lesions were fissured tongue (39% vs 16%, P<.001) and periodontitis (28% vs 16%, P=.04). Geographic tongue was uncommon in both the study and the control group (4% vs 2%, P=.68). In the psoriasis group, patients with fissured tongue had a higher prevalence of cardiovascular disease (23.1% vs 4.9%), diabetes mellitus (28.2% vs 8.2%), and psoriatic arthritis (15.4% vs 1.6%) than those without this condition. Periodontitis was also associated with a higher prevalence of cardiovascular disease (28.6% vs 5.6%). Type of psoriasis, location, and time since onset were not significantly associated with oral lesions. Patients with oral lesions, however, had more severe disease (Psoriasis Area Severity Index [PASI], 3.9 vs 2.4; P=.05). Mean PASI was also higher in patients with fissured tongue (4.7 vs. 2.7, P=.03) and periodontitis (5.1 vs. 2.9, P=.04). CONCLUSIONS: The prevalence of oral lesions, especially fissured tongue and periodontitis, is higher in patients with psoriasis than in healthy controls. Oral lesions were associated with more severe psoriasis and a higher prevalence of associated comorbidities. We recommend examining the oral cavity of patients with psoriasis, especially those with more severe disease and comorbidities, irrespective of type of psoriasis, location, or time since onset.


Assuntos
Doenças Cardiovasculares , Periodontite , Psoríase , Doenças da Língua , Língua Fissurada , Doenças Cardiovasculares/complicações , Estudos Transversais , Humanos , Periodontite/complicações , Periodontite/epidemiologia , Prevalência , Psoríase/complicações , Psoríase/epidemiologia , Língua Fissurada/complicações , Língua Fissurada/etiologia
6.
Actas dermo-sifiliogr. (Ed. impr.) ; 113(5): 459-466, Mayo 2022. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-206487

RESUMO

Antecedentes y objetivo: La psoriasis es una enfermedad con una gran implicación sistémica en la que se ha descrito una mayor prevalencia de alteraciones de la mucosa oral. El objetivo del estudio fue determinar la prevalencia de alteraciones orales en pacientes con psoriasis y su asociación con las características clínicas y epidemiológicas de la enfermedad. Material y métodos: Se realizó un estudio transversal, incluyendo pacientes con psoriasis y voluntarios sanos entre diciembre de 2019 y febrero de 2020. Se recogieron datos biométricos, comorbilidades asociadas y alteraciones orales detectadas en la exploración física. Además, en los pacientes con psoriasis se registraron las características clínicas de la enfermedad. Resultados: Se incluyeron 100 pacientes con psoriasis y 100 controles. Los pacientes con psoriasis presentaron una mayor prevalencia de alteraciones de la mucosa oral respecto al grupo control (74% frente a 46%, p<0,001), destacando una mayor prevalencia de lengua fisurada (LF) (39% frente a 16%, p<0,001) y periodontitis (28% frente a 16%, p=0,04). La lengua geográfica resultó poco frecuente en ambos grupos (4% frente a 2%, p=0,68). Dentro del grupo con psoriasis, los pacientes con LF presentaron mayor prevalencia de enfermedad cardiovascular (23,1% frente a 4,9%), diabetes mellitus (28,2% frente a 8,2%) y artritis psoriásica (15,4% frente a 1,6%) que aquellos sin LF. Los pacientes con periodontitis presentaron también mayor frecuencia de enfermedad cardiovascular (28,6% frente a 5,6%). La forma, la localización y el tiempo de evolución de la psoriasis no se relacionaron con más alteraciones orales. Sin embargo, los pacientes con alteraciones orales presentaron valores medios de la escala PASI (índice de severidad del área de psoriasis) más elevados (3,9 frente a 2,4, p=0,05). Los pacientes con LF presentaron un PASI más elevado que aquellos sin LF (4,7 frente a 2,7, p=0,03) (AU)


Background and objective: Psoriasis is a multisystem disease associated with an increased prevalence of oral lesions. The aim of this study was to determine the prevalence of oral lesions in patients with psoriasis and examine associations with clinical and patient characteristics. Material and methods: We conducted a cross-sectional study of patients with psoriasis and healthy controls seen between December 2019 and February 2020. We recorded biometric data, comorbidities associated with psoriasis, oral examination findings, and clinical characteristics of psoriasis. Results: We studied 100 patients with psoriasis and 100 controls. Oral lesions were more common in the psoriasis group (74% vs 46%, P<.001). The most common lesions were fissured tongue (39% vs 16%, P<.001) and periodontitis (28% vs 16%, P=.04). Geographic tongue was uncommon in both the study and the control group (4% vs 2%, P=.68). In the psoriasis group, patients with fissured tongue had a higher prevalence of cardiovascular disease (23.1% vs 4.9%), diabetes mellitus (28.2% vs 8.2%), and psoriatic arthritis (15.4% vs 1.6%) than those without this condition. Periodontitis was also associated with a higher prevalence of cardiovascular disease (28.6% vs 5.6%). Type of psoriasis, location, and time since onset were not significantly associated with oral lesions. Patients with oral lesions, however, had more severe disease (Psoriasis Area Severity Index [PASI], 3.9 vs 2.4; P=.05). Mean PASI was also higher in patients with fissured tongue (4.7 vs. 2.7, P=.03) and periodontitis (5.1 vs. 2.9, P=.04). (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Psoríase/complicações , Psoríase/epidemiologia , Mucosa Bucal/patologia , Doenças da Boca/epidemiologia , Doenças da Boca/etiologia , Estudos de Casos e Controles , Estudos Transversais , Prevalência
7.
Actas dermo-sifiliogr. (Ed. impr.) ; 113(5): t459-t466, Mayo 2022. ilus, tab, graf
Artigo em Inglês | IBECS | ID: ibc-206488

RESUMO

Background and objective: Psoriasis is a multisystem disease associated with an increased prevalence of oral lesions. The aim of this study was to determine the prevalence of oral lesions in patients with psoriasis and examine associations with clinical and patient characteristics. Material and methods: We conducted a cross-sectional study of patients with psoriasis and healthy controls seen between December 2019 and February 2020. We recorded biometric data, comorbidities associated with psoriasis, oral examination findings, and clinical characteristics of psoriasis. Results: We studied 100 patients with psoriasis and 100 controls. Oral lesions were more common in the psoriasis group (74% vs 46%, P<.001). The most common lesions were fissured tongue (39% vs 16%, P<.001) and periodontitis (28% vs 16%, P=.04). Geographic tongue was uncommon in both the study and the control group (4% vs 2%, P=.68). In the psoriasis group, patients with fissured tongue had a higher prevalence of cardiovascular disease (23.1% vs 4.9%), diabetes mellitus (28.2% vs 8.2%), and psoriatic arthritis (15.4% vs 1.6%) than those without this condition. Periodontitis was also associated with a higher prevalence of cardiovascular disease (28.6% vs 5.6%). Type of psoriasis, location, and time since onset were not significantly associated with oral lesions. Patients with oral lesions, however, had more severe disease (Psoriasis Area Severity Index [PASI], 3.9 vs 2.4; P=.05). Mean PASI was also higher in patients with fissured tongue (4.7 vs. 2.7, P=.03) and periodontitis (5.1 vs. 2.9, P=.04). (AU)


Antecedentes y objetivo: La psoriasis es una enfermedad con una gran implicación sistémica en la que se ha descrito una mayor prevalencia de alteraciones de la mucosa oral. El objetivo del estudio fue determinar la prevalencia de alteraciones orales en pacientes con psoriasis y su asociación con las características clínicas y epidemiológicas de la enfermedad. Material y métodos: Se realizó un estudio transversal, incluyendo pacientes con psoriasis y voluntarios sanos entre diciembre de 2019 y febrero de 2020. Se recogieron datos biométricos, comorbilidades asociadas y alteraciones orales detectadas en la exploración física. Además, en los pacientes con psoriasis se registraron las características clínicas de la enfermedad. Resultados: Se incluyeron 100 pacientes con psoriasis y 100 controles. Los pacientes con psoriasis presentaron una mayor prevalencia de alteraciones de la mucosa oral respecto al grupo control (74% frente a 46%, p<0,001), destacando una mayor prevalencia de lengua fisurada (LF) (39% frente a 16%, p<0,001) y periodontitis (28% frente a 16%, p=0,04). La lengua geográfica resultó poco frecuente en ambos grupos (4% frente a 2%, p=0,68). Dentro del grupo con psoriasis, los pacientes con LF presentaron mayor prevalencia de enfermedad cardiovascular (23,1% frente a 4,9%), diabetes mellitus (28,2% frente a 8,2%) y artritis psoriásica (15,4% frente a 1,6%) que aquellos sin LF. Los pacientes con periodontitis presentaron también mayor frecuencia de enfermedad cardiovascular (28,6% frente a 5,6%). La forma, la localización y el tiempo de evolución de la psoriasis no se relacionaron con más alteraciones orales. Sin embargo, los pacientes con alteraciones orales presentaron valores medios de la escala PASI (índice de severidad del área de psoriasis) más elevados (3,9 frente a 2,4, p=0,05). Los pacientes con LF presentaron un PASI más elevado que aquellos sin LF (4,7 frente a 2,7, p=0,03) (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Psoríase/complicações , Psoríase/epidemiologia , Mucosa Bucal/patologia , Doenças da Boca/epidemiologia , Doenças da Boca/etiologia , Estudos de Casos e Controles , Estudos Transversais , Prevalência
8.
Med. intensiva (Madr., Ed. impr.) ; 46(1): 14-22, ene. 2022. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-204168

RESUMO

Objective: To analyze the incidents related to patient safety (IRSP) and their risk factors during in-hospital transfer (IHT) of critical patients after the application of a protocol, and to evaluate safety during transfer using quality indicators.DesignA prospective, observational and non-intervention cohort study was carried out.SettingA 10-bed multipurpose Intensive Care Unit (ICU) of a second level university hospital.PatientsAll IHTs of critical patients in the ICU for diagnostic tests and to the operating room between March 2011 and March 2017 were included in the study.Main measurementsDemographic variables, patient severity, transfer priority, moment of the day, reason and type of transfer team. Pre-transport checklist items and IRSP were collected. A biannual analysis was made of quality indicators designed for IHT.ResultsA total of 805 transfers were registered, mostly of an urgent nature (53.7%) and for diagnostic tests (77%). In turn, 112 transfers (13.9%) presented some type of IRSP; 54% related to the equipment and 30% related to team and organization. Adverse events occurred in 19 (2.4%) transfers. Risk factors identified in the multivariate analysis were mechanical ventilation and the transport team. The evolution of the indicators related to transport was significantly favorable.ConclusionsAfter the application of an IHT protocol, IRSP are low. The main risk factor is invasive mechanical ventilation. The experience of the team performing IHT influences the detection of a greater number of incidents (AU)


Objetivo: Analizar los incidentes relacionados con la seguridad del paciente (IRSP) durante los traslados intrahospitalarios (TIH) del paciente crítico tras la aplicación de un protocolo, así como sus factores de riesgo. Evaluar la seguridad durante los traslados mediante indicadores de calidad.DiseñoEstudio de cohorte, prospectivo, observacional y no intervencionista.ÁmbitoUnidad de Cuidados Intensivos (UCI) polivalente de 10 camas de un hospital universitario de segundo nivel.PacientesSe incluyen todos los TIH de pacientes críticos realizados de UCI a pruebas diagnósticas y a quirófano entre marzo de 2011 y marzo de 2017.Principales variables del estudioVariables demográficas, gravedad de los pacientes, prioridad del traslado, momento del día, motivo y tipo de equipo del traslado. Se recogen comprobaciones pre-traslado e IRSP. Análisis semestral de indicadores de calidad diseñados para el TIH.ResultadosDe los 805 traslados registrados, la mayoría urgentes (53,7%) y para pruebas diagnósticas (77%), 112 traslados (13,9%) presentaron algún tipo de IRSP, 54% relacionado con el equipamiento y 30% con el equipo y la organización. En 19 (2,4%) traslados se produjeron eventos adversos. En el análisis multivariante los factores de riesgo fueron la ventilación mecánica y el equipo que realiza el traslado. La evolución de los indicadores relacionados con los traslados es significativamente favorable.ConclusionesTras la aplicación de un protocolo de TIH, los IRSP son bajos y el principal factor de riesgo es la ventilación mecánica invasiva. La experiencia del equipo que realiza el TIH influye en la detección de un mayor número de incidentes (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Unidades de Terapia Intensiva , Transferência de Pacientes/normas , Segurança do Paciente , Estudos Prospectivos , Estudos de Coortes
9.
Med Intensiva (Engl Ed) ; 46(1): 14-22, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34802990

RESUMO

OBJECTIVE: To analyze the incidents related to patient safety (IRSP) and their risk factors during in-hospital transfer (IHT) of critical patients after the application of a protocol, and to evaluate safety during transfer using quality indicators. DESIGN: A prospective, observational and non-intervention cohort study was carried out. SETTING: A 10-bed multipurpose Intensive Care Unit (ICU) of a second level university hospital. PATIENTS: All IHTs of critical patients in the ICU for diagnostic tests and to the operating room between March 2011 and March 2017 were included in the study. MAIN MEASUREMENTS: Demographic variables, patient severity, transfer priority, moment of the day, reason and type of transfer team. Pre-transport checklist items and IRSP were collected. A biannual analysis was made of quality indicators designed for IHT. RESULTS: A total of 805 transfers were registered, mostly of an urgent nature (53.7%) and for diagnostic tests (77%). In turn, 112 transfers (13.9%) presented some type of IRSP; 54% related to the equipment and 30% related to team and organization. Adverse events occurred in 19 (2.4%) transfers. Risk factors identified in the multivariate analysis were mechanical ventilation and the transport team. The evolution of the indicators related to transport was significantly favorable. CONCLUSIONS: After the application of an IHT protocol, IRSP are low. The main risk factor is invasive mechanical ventilation. The experience of the team performing IHT influences the detection of a greater number of incidents.


Assuntos
Unidades de Terapia Intensiva , Segurança do Paciente , Estudos de Coortes , Hospitais , Humanos , Estudos Prospectivos
10.
Neurologia (Engl Ed) ; 2021 Mar 25.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33775475

RESUMO

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

12.
Neurologia (Engl Ed) ; 2020 Jul 18.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32690333

RESUMO

INTRODUCTION: The management of epilepsy during pregnancy requires optimal seizure control, avoiding the potential teratogenic effects of antiepileptic drugs. OBJECTIVES: This study aims to describe the clinical characteristics and perinatal outcomes of pregnant patients with epilepsy; to analyse the factors associated with seizures during pregnancy; to describe the most commonly used antiepileptic drugs in these patients; and to analyse changes in treatment regimens in 2 periods, 2000-2010 and 2011-2018. METHODS: We conducted a prospective observational study of patients with epilepsy who reported their pregnancy between 2000 and 2018. Patients were evaluated in the first and second trimesters of pregnancy, after delivery, and at one year. Data were collected on demographic variables, epilepsy, and perinatal and obstetric variables. RESULTS: A total of 101 pregnancies were included. Patients' mean age was 32.6 years; 55.4% had focal epilepsy, 38.6% had generalised epilepsy, and 5.9% had undetermined epilepsy. We recorded 90 live births, 9 miscarriages, and 5 cases of congenital malformations, 4 of which were born to women who received valproate monotherapy. Forty patients (39.6%) presented seizures, with 16 (40%) presenting generalised tonic-clonic seizures. The variables associated with seizures during pregnancy were poor seizure control in the year prior to pregnancy (66.7% vs. 15.1%; P < .001), treatment with 2 or more antiepileptic drugs (30% vs. 14.8%; P < .001), and untreated epilepsy (25% vs. 0%; P < .001). The antiepileptic drugs most widely used in monotherapy were lamotrigine (n = 19; 27.1%), valproate (n = 17; 24.2%), and levetiracetam (n = 12; 17.1%). In the most recent period (2011-2018), we observed a greater proportion patients receiving monotherapy (81.5%, vs. 55.3%), as well as a decrease in the use of carbamazepine (2.3%, vs. 23.1%) and valproate (20.5%, vs. 30.8%); and a marked increase in the use of levetiracetam (27.3%, vs. 0%). CONCLUSIONS: The factors associated with the presence of seizures during pregnancy were previous poor seizure control, treatment with 2 or more antiepileptic drugs, and lack of treatment during pregnancy. The most commonly used drugs were lamotrigine, valproate, and levetiracetam, with an increase in levetiracetam use and a decrease in valproate use being observed in the later period (2011-2018).

13.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32682510

RESUMO

OBJECTIVE: To analyze the incidents related to patient safety (IRSP) and their risk factors during in-hospital transfer (IHT) of critical patients after the application of a protocol, and to evaluate safety during transfer using quality indicators. DESIGN: A prospective, observational and non-intervention cohort study was carried out. SETTING: A 10-bed multipurpose Intensive Care Unit (ICU) of a second level university hospital. PATIENTS: All IHTs of critical patients in the ICU for diagnostic tests and to the operating room between March 2011 and March 2017 were included in the study. MAIN MEASUREMENTS: Demographic variables, patient severity, transfer priority, moment of the day, reason and type of transfer team. Pre-transport checklist items and IRSP were collected. A biannual analysis was made of quality indicators designed for IHT. RESULTS: A total of 805 transfers were registered, mostly of an urgent nature (53.7%) and for diagnostic tests (77%). In turn, 112 transfers (13.9%) presented some type of IRSP; 54% related to the equipment and 30% related to team and organization. Adverse events occurred in 19 (2.4%) transfers. Risk factors identified in the multivariate analysis were mechanical ventilation and the transport team. The evolution of the indicators related to transport was significantly favorable. CONCLUSIONS: After the application of an IHT protocol, IRSP are low. The main risk factor is invasive mechanical ventilation. The experience of the team performing IHT influences the detection of a greater number of incidents.

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