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1.
Cureus ; 14(8): e28540, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36185913

RESUMO

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative genetic disorder caused by mutations in the DCAF17 gene. It primarily manifests with endocrinological symptoms such as hypogonadism, failure to develop secondary sexual characteristics, diabetes, and hypotrichosis. Neurological manifestations include intellectual disabilities, dystonia, dysarthria, and hearing loss. This paper describes the cases of two Saudi Arabian sisters, aged 37 and 36, who were born to first-degree consanguineous parents. They had normal growth and development except for certain intellectual disabilities. However, they were presented with primary amenorrhea and no secondary sexual characteristics at puberty, and they were subsequently diagnosed with WSS. The first patient presented with dysmorphic features, dysarthria, tremors, and dystonia. The second patient presented with hypotrichosis, predominantly affecting the temporo-occipital regions, and cerebellar signs on physical exam. Both patients had hair thinning and bilateral sensorineural hearing loss. Brain MRI of both patients showed increased iron deposition in the basal ganglia and multiple faint T2-FLAIR (fluid-attenuated inversion recovery) hyperintensity foci involving the centrum semiovale, corona radiata, and peritrigonal white matter bilaterally. MRI abdomen of the second patient revealed early hepatic fibrosis, with diffuse moderate to severe hepatic steatosis reaching a fat fraction of 19%, and increased intensity of the splenic vein with multiple collaterals. Further research is needed to achieve a better understanding of this syndrome to improve patient care and outcomes.

2.
Hum Vaccin Immunother ; 18(1): 1872340, 2022 12 31.
Artigo em Inglês | MEDLINE | ID: mdl-33596388

RESUMO

Vaccination has had tremendous impact on human health. The tendency to hesitate or delay vaccination has been increasing, which has contributed to outbreaks of vaccine-preventable diseases. This cross-sectional study aimed to investigate the prevalence of childhood vaccine hesitancy and social media misconceptions in vaccine refusal among randomly selected parents from October 2019 through March 2020 in the outpatient clinics of King Khalid University Hospital, Riyadh, Saudi Arabia. The data were collected using a three-part questionnaire: the socio-demographic and economic questions, the Parents' Attitudes about Childhood Vaccines (PACV) survey, and questions concerning social media use. Based on the PACV survey tool, 37 parents (11%) scored a value > 50 and were suggested as hesitant (8% hesitant and 3% very hesitant). Overall, 288 parents (89%) scored < 50, hence deemed to not be hesitant about childhood vaccination. There was no significant association between high educational level or social media exposure with vaccine hesitancy. The most commonly used social media platform was Twitter (40%). In conclusion, we report a low prevalence of vaccine hesitancy about childhood vaccination among parents, with no significant impact of education level or social media on vaccine hesitancy. Further studies are required to replicate these findings in other regions and cities to generalize these observations for Saudi Arabia.


Assuntos
Mídias Sociais , Vacinas , Estudos Transversais , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Pais , Aceitação pelo Paciente de Cuidados de Saúde , Vacinação
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