Background: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. Summary: Our objective was to assess the global distribution and prevalence of HCA and HSP by a systematic review and meta-analysis of prevalence studies. The MEDLINE, ISI Web of Science and Scopus databases were searched (1983-2013) for studies performed in well-defined populations and geographical regions. Two independent reviewers assessed the studies and extracted data and predefined methodological parameters. Overall, 22 studies were included, reporting on 14,539 patients from 16 countries. Multisource population-based studies yielded higher prevalence values than studies based primarily on hospitals or genetic centres. The prevalence range of dominant HCA was 0.0-5.6/10⁵, with an average of 2.7/10⁵ (1.5-4.0/10⁵). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (AR) HCA (AR-HCA) prevalence range was 0.0-7.2/10⁵, the average being 3.3/10⁵ (1.8-4.9/10⁵). Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. The prevalence of autosomal dominant (AD) HSP (AD-HSP) ranged from 0.5 to 5.5/10⁵ and that of AR-HSP from 0.0 to 5.3/10⁵, with pooled averages of 1.8/10⁵ (95% CI: 1.0-2.7/10⁵) and 1.8/10⁵ (95% CI: 1.0-2.6/10⁵), respectively. The most common AD-HSP form in every population was spastic paraplegia, autosomal dominant, type 4 (SPG4), followed by SPG3A, while SPG11 was the most frequent AR-HSP, followed by SPG15. In population-based studies, the number of families without genetic diagnosis after systematic testing ranged from 33 to 92% in the AD-HCA group, and was 40-46% in the AR-HCA, 45-67% in the AD-HSP and 71-82% in the AR-HSP groups. Key Messages: Highly variable prevalence values for HCA and HSP are reported across the world. This variation reflects the different genetic make-up of the populations, but also methodological heterogeneity. Large areas of the world remain without prevalence studies. From the available data, we estimated that around 1:10,000 people are affected by HCA or HSP. In spite of advances in genetic research, most families in population-based series remain without identified genetic mutation after extensive testing.

Stereotypies are frequently reported in people with autism spectrum disorder (ASD) but remain one of the less explained phenomena. We aimed to describe, through a systematic review and a meta-analysis, the prevalence of motor stereotypies in ASD and study the factors that influence this prevalence. Our literature search included MEDLINE, Scopus, and PsycINFO databases. Quality and risk of bias were assessed. Thirty-seven studies were included and the median prevalence of motor stereotypies in ASD was 51.8%, ranging from 21.9% to 97.5%. The most frequent determinants associated with a higher number of stereotypies in ASD were a younger age, lower intelligence quotient, and a greater severity of ASD. Moreover, gender did not seem to influence the prevalence of stereotypies. Meta-analytic analysis showed that lower IQ and autism diagnosis (independent of IQ) are associated with a higher prevalence of motor stereotypies (odds ratio = 2.5 and 4.7, respectively). Limitations of the reviewed literature include the use of convenience samples, with small sizes and heterogeneous inclusion criteria, and the predominance of high-functioning autism individuals.

HighlightsSmall bowel GIST is an unusual tumour of the gastrointestinal tract and can have various clinical presentations.Its presentation as acute gastrointestinal haemorrhage is unusual, and high index of suspicion is required for diagnosis.We describe a case of a giant jejunal GIST causing massive low gastrointestinal bleeding, requiring emergency surgery.This case reviews an unusual presentation of small intestinal GISTs as well as its management in an emergent context.

Objective The aim of the study was to investigate the knowledge of vulvar anatomy and vulvar self-examination (VSE) in a sample of Italian women attending a gynecology clinic. Methods For this original research from May to July 2019, 512 women attending the Lower Genital Tract Clinic at the Department of Surgical Sciences of the University of Torino were invited to participate in a 29-question survey about vulvar anatomy, VSE, and sociodemographic details. Data were analyzed using descriptive statistics. Results Of 512 patients, 500 completed the questionnaire (98% response rate). The mean age of respondents was 41 years (range = 17–77 years). Education level was evenly distributed between elementary, high school, and university graduates. Only 15% of interviewed women were able correctly sketching vulvar anatomy. Seventy-six percent of the women had not heard about VSE, and 61% of the women approach their genitalia with feelings of shame and embarrassment. Only 23% of the women would seek medical advice after identification of possible abnormalities during VSE. A majority (69%) of the women would like to have more information about VSE and vulvar health through educational videos and social media. Conclusions Education about VSE may lead to earlier diagnosis of vulvar cancers and other pathologies. Further efforts are needed to disperse information about normal external female genital anatomy and VSE to achieve self-confidence among women.

O papel desempenhado pela família e cuidadores no tratamento dos idosos é essencial para a promoção e manutenção da sua qualidade de vida, garantindo a sua manutenção do domicílio por um período de tempo mais alargado. Objetivo: Compreender a existência da sobrecarga do cuidador informal e os fatores associados (apoio disponíveis e perfil), bem como estudar o estabelecimento relacional entre o tempo e a sobrecarga. Metodologia: Um questionário de dados sociodemográficos e QASCI (Questionário de Avaliação da Sobrecarga do Cuidador Informal) aplicado a 30 cuidadores da região centro de Portuga. Resultados: São caraterísticas do perfil do cuidador, 45 anos, casado, existência de coabitação e razões relacionadas com o dever e a ligação emocional subjacente.