ABSTRACT
We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient's disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.
Subject(s)
Humans , Brain , Chelation Therapy , Cognition , Extremities , Gait Apraxia , Iron , Movement DisordersABSTRACT
A avaliação científica do bem-estar tem sido importante para detectar animais não adaptados às condições de criação que lhes são impostas, situação que afeta o potencial produtivo e os coloca em maior risco de enfermidades. Com esse objetivo, foram avaliados 30 equinos da Cavalaria da Polícia Militar do Paraná, considerando-se indicadores clínicos, etológicos e hormonais. Na avaliação clínica, além da determinação do escore corporal e exame físico, verificou-se o histórico de ocorrência de cólica nos últimos doze meses. Comportamentos anormais foram pesquisados por observação etológica e a taxa do ritmo circadiano do cortisol (RCC) foi determinada por meio de duas colheitas de sangue, às 08 e às 17 horas. Apesar da significativa ocorrência de comportamentos anormais (26,7%), os achados clínicos foram normais e houve ausência de relato de cólica nos últimos 12 meses precedentes ao estudo. As médias dos resultados das análises de cortisol estiveram dentro da normalidade, nos dados absolutos e na variação do RCC, entretanto, 42% dos animais analisados apresentaram RCC alterado. Apesar da expressiva incidência de comportamentos anormais e de animais com alteração no ritmo circadiano de cortisol, sinais indicadores de estresse crônico, considerou-se que os equinos deste estudo apresentaram boas condições de bem-estar em relação àquelas relatadas por estudos nacionais prévios.
The scientific assessment of welfare has been important to detect animals non adapted to their management conditions, which can interfere with their productive potential and put them at increased risk of illness. With this objective, 30 horses from the Military Police of Paraná were evaluated, considering clinical, ethological and hormonal indicators of equine welfare. In the clinical evaluation, horses were assessed by physical examination and their body score conditions and the history of colic incidence in the last twelve months were determined. Abnormal behavior incidence were studied by ethological observation and the individual rate of circadian rhythm of cortisol (RCC) was calculated based on cortisol concentration changes in two blood samples taken at 08:00 am and 5:00pm. Despite significant incidence of abnormal behaviors (26.7%), clinical findings were normal and there were no reports of colic episodes in the last 12 months preceding the study. The mean blood cortisol concentrations and the mean RCC rate were within the normal range. However, 42% of the studied horses had abnormal RCC rates. Despite the significant incidences of abnormal behavior and abnormal RCC rates (indicators of chronic stress), these horses were considered in good welfare when compared to ones previously reported in other national studies.
ABSTRACT
Introducción: Las estereotipias han sido descritas en niños con trastornos del desarrollo pero su prevalencia y características en niños con desarrollo madurativo normal no es conocida. Objetivo: Estimar la prevalencia de estereotipias en niños sin enfermedades crónicas y describir sus características clínicas y epidemiológicas Pacientes y Métodos: Estudio de corte transversal. Se aplicó una encuesta a madres de niños recién nacidos hasta niños de 12 años que concurrieron a los consultorios externos con muestreo consecutivo y no aleatori-zado. La encuesta fue analizada previamente en un subgrupo de madres. Resultados: Se completaron 406 encuestas, en el 57 por ciento se refirieron estereotipias y las más frecuentes fueron chuparse los dedos (21,8 por ciento) y comerse las uñas (20 por ciento). El análisis multivariado identificó mayor probabilidad de presentar estereotipias en niños con antecedentes de esterotipia en los padres, situaciones de estrés y madres mayores de 35 años. Conclusión: Las estereotipias tienen una elevada prevalencia en los niños y son más frecuentes en niños con antecedentes familiares de estereotipias, situaciones de estrés y en niños con madres de mayor edad.
Background: Stereotypies have been described in children with developmental disorders but their prevalence and characteristics in developmentally normal children is unknown. Objective: To estimate the prevalence of stereotypies in children without chronic diseases and describe their clinical and epidemiological characteristics. Patients and Methods: A Cross-sectional study was performed. Mothers of children aged from birth to 12 years, who attended the outpatient clinic, answered survey questions. Results: 406 surveys were completed; stereotypies were observed in 57 percent of patients, among the most frequent, finger sucking (21.8 percent) and nail biting (20 percent). A multivariate analysis identified that stereotypies are more likely in children with a history of stereotypy in parents, under stressful environments, and with mothers over 35 years old. Conclusion: Stereo-typies showed a high prevalence in this study, most frequently in those children under stressful environments, mothers older than 35 years, and affected parents.