RESUMO
Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.
Assuntos
Anormalidades Múltiplas/epidemiologia , Face/anormalidades , Síndrome de Noonan/epidemiologia , Síndrome de Turner/epidemiologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Povo Asiático/genética , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Face/patologia , Reconhecimento Facial , Feminino , Hispânico ou Latino/genética , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Síndrome de Noonan/fisiopatologia , Fenótipo , Vigilância da População , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/fisiopatologia , População Branca/genética , Adulto JovemRESUMO
Introduction: COVID-19 has affected several millions of people globally and various means have been employed to curb the spread. This nationwide survey investigated adherence to infection control protocols and drug uptake among Nigerian adults. Methods: this was a descriptive cross-sectional survey using an internet-based questionnaire to investigate adherence to infection control practices and drug use among adults, who have been resident in Nigeria for at least 6 months. The data was analyzed using Stata software version 16 with levels of significance at p<0.05. Results: a total of 1235 adults participated in the study. The respondents were aged 18-78 years with a mean age of 36.3 ±11.1 years. Over half (53.0%) of the participants were between 31-50 years. The male to female ratio was 1: 1.45. Majority (92.6%) had a minimum of tertiary educational qualification. One hundred (27.1%) reported a positive test result for COVID-19. A total of 1,204 (97.5%) admitted to wearing of face masks, 1,125 (91.1%) washed hands regularly, 1,142 (92.5%) used hand sanitizers while physical distancing was maintained in 985 (79.8%). A total of 854 (69.2%) were on at least a drug or herbal based therapy. Herbal based remedies were used in 112 (9.1%), supplements in 763 (61.8%), antibiotics in 210 (17%), ivermectin in 205 (16.6%), and antimalarials in 128 (10.4%) participants. Conclusion: adherence to behavioural measures was high among the population, with widespread uptake of supplements, antibiotics, and antimalarial drugs. The high uptake of antibiotics emphasizes the need to step up regulatory policies for antibiotic use.