Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder.

Recognizing Mendelian causes is crucial in molecular diagnostics and counseling for patients with autism spectrum disorder (ASD). We explored facial dysmorphism and facial asymmetry in relation to genetic causes in ASD patients and studied the potential of objective facial phenotyping in discriminating between Mendelian and multifactorial ASD. In a cohort of 152 ASD patients, 3D facial images were used to calculate three metrics: a computational dysmorphism score, a computational asymmetry score, and an expert dysmorphism score. High scores for each of the three metrics were associated with Mendelian causes of ASD. The computational dysmorphism score showed a significant correlation with the average expert dysmorphism score. However, in some patients, different dysmorphism aspects were captured making the metrics potentially complementary. The computational dysmorphism and asymmetry scores both enhanced the individual expert dysmorphism scores in differentiating Mendelian from non-Mendelian cases. Furthermore, the computational asymmetry score enhanced the average expert opinion in predicting a Mendelian cause. By design, our study does not allow to draw conclusions on the actual point-of-care use of 3D facial analysis. Nevertheless, 3D morphometric analysis is promising for developing clinical dysmorphology applications in diagnostics and training.

Screening for multidrug-resistant organisms in high-risk hospitalized patients with hematologic diseases.

OBJECTIVES: Patients treated for hematologic malignancies are at higher risk for blood stream infections (BSI) and multidrug-resistant organisms (MDRO) are increasingly involved. Studies showed a significant association between rectal colonization status and a higher risk of subsequent MDRO BSI. The objective of our study was to probe the practice of surveillance cultures in Belgian hematology centers. METHODS: A questionnaire was sent to the 13 hematology centers participating in the acute leukemia board of the Belgian Hematology Society. 21 questions probed for the method of surveillance cultures, MDRO screened, antimicrobial prophylaxis, and empirical therapy and their relationship with colonization status. RESULTS: All centers completed the questionnaire in full. Routine gastrointestinal surveillance cultures in hematologic patients are taken in 10 hospitals. Organisms tested for included mostly ESBL (n = 9) and carbapenem-resistant (n = 8) Enterobacterales. All centers with a screening strategy adapt empiric antibiotic therapy based on MDRO colonization. Prophylaxis strategies are variable, only two centers adapt prophylaxis upon documentation of fluoroquinolone resistance. CONCLUSIONS: The majority of the Belgian centers perform routine surveillance cultures and adapt empiric therapy for neutropenic fever accordingly. Other reasons for testing include to gain insight into local epidemiology and to prevent in-hospital transmission. In general, there was significant variability in surveillance dimensions.