University of Jordan

About: University of Jordan is a education organization based out in Amman, Jordan. It is known for research contribution in the topics: Population & Medicine. The organization has 7796 authors who have published 13764 publications receiving 213526 citations.

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

Abstract: Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation performed in parallel. Standard clinical evaluation suggested a diagnosis in 16% of cases (54/337) but only 70% of these (38/54) were subsequently confirmed. On the other hand, the genomic approach revealed a likely diagnosis in 58% (n=196). These included copy number variants in 14% (n=54, 15% are novel), and point mutations revealed by multi-gene panel and exome sequencing in the remaining 43% (1% were found to have Fragile-X). The identified point mutations were mostly recessive (n=117, 81%), consistent with the high consanguinity of the study cohort, but also X-linked (n=8, 6%) and de novo dominant (n=19, 13%). When applied directly on all cases with negative molecular karyotyping, the diagnostic yield of exome sequencing was 60% (77/129). Exome sequencing also identified likely pathogenic variants in three novel candidate genes (DENND5A, NEMF and DNHD1) each of which harbored independent homozygous mutations in patients with overlapping phenotypes. In addition, exome sequencing revealed de novo and recessive variants in 32 genes (MAMDC2, TUBAL3, CPNE6, KLHL24, USP2, PIP5K1A, UBE4A, TP53TG5, ATOH1, C16ORF90, SLC39A14, TRERF1, RGL1, CDH11, SYDE2, HIRA, FEZF2, PROCA1, PIANP, PLK2, QRFPR, AP3B2, NUDT2, UFC1, BTN3A2, TADA1, ARFGEF3, FAM160B1, ZMYM5, SLC45A1, ARHGAP33 and CAPS2), which we highlight as potential candidates on the basis of several lines of evidence, and one of these genes (SLC39A14) was biallelically inactivated in a potentially treatable form of hypermanganesemia and neurodegeneration. Finally, likely causal variants in previously published candidate genes were identified (ASTN1, HELZ, THOC6, WDR45B, ADRA2B and CLIP1), thus supporting their involvement in ID pathogenesis. Our results expand the morbid genome of ID and support the adoption of genomics as a first-tier test for individuals with ID.

Cardiac manifestations of acute carbamate and organophosphate poisoning.

Abstract: OBJECTIVE: To study the frequency, extent, and pathogenesis of the cardiac complications accompanying organophosphate and carbamate poisoning. DESIGN: Retrospective study. SETTING: A medical intensive care unit (MICU) of a general hospital. SUBJECTS: 46 adult patients admitted over a five year period with a diagnosis of organophosphate or carbamate poisoning. RESULTS: Cardiac complications developed in 31 patients (67%). These were: non-cardiogenic pulmonary oedema, 20 (43%); cardiac arrhythmias, 11 (24%); electrocardiographic abnormalities including prolonged Q-Tc interval, 31 (67%); ST-T changes, 19 (41%); and conduction defects, 4 (9%). Sinus tachycardia occurred in 16 patients (35%) and sinus bradycardia in 13 (28%). Hypertension developed in 10 patients (22%) and hypotension in eight (17%). Eight patients (17%) needed respiratory support because of respiratory depression. Although more than two thirds of the patients (67%) had a prolonged Q-Tc interval, none had polymorphic ventricular tachycardia of the torsade de pointes type. Two patients died from ventricular fibrillation, an in hospital mortality of 4%. CONCLUSIONS: Cardiac complications often accompany poisoning with these compounds, particularly during the first few hours. Hypoxaemia, acidosis, and electrolyte derangements are major predisposing factors. Intensive supportive treatment in intensive or coronary care facilities with administration of atropine in adequate doses early in the course of the illness will reduce the mortality.

Inverse Rate-Dependent Prandtl–Ishlinskii Model for Feedforward Compensation of Hysteresis in a Piezomicropositioning Actuator

Abstract: Piezomicropositioning actuators, which are widely used in micropositioning applications, exhibit strong rate-dependent hysteresis nonlinearities that affect the accuracy of these micropositioning systems when used in open-loop control systems, and may also even lead to system instability of closed-loop control systems. Feedback control techniques could compensate for the rate-dependent hysteresis in piezomicropositioning actuators. However, accurate sensors over a wide range of excitation frequencies and the feedback control techniques inserted in the closed-loop control systems may limit the use of the piezomicropositioning and nanopositioning systems in different micropositioning and nanopositioning applications. We show that open-loop control techniques, also called feedforward techniques, can compensate for rate-dependent hysteresis nonlinearities over different excitation frequencies. An inverse rate-dependent Prandtl-Ishlinskii model is utilized for feedforward compensation of the rate-dependent hysteresis nonlinearities in a piezomicropositioning stage. The exact inversion of the rate-dependent model holds under the condition that the distances between the thresholds do not decrease in time. The inverse of the rate-dependent model is applied as a feedforward compensator to compensate for the rate-dependent hysteresis nonlinearities of a piezomicropositioning actuator at a range of different excitation frequencies between 0.05-100 Hz. The results show that the inverse compensator suppresses the rate-dependent hysteresis nonlinearities, and the maximum positioning error in the output displacement at different excitation frequencies.

Global phylogeography and ancient evolution of the widespread human gut virus crAssphage

Abstract: Microbiomes are vast communities of microorganisms and viruses that populate all natural ecosystems. Viruses have been considered to be the most variable component of microbiomes, as supported by virome surveys and examples of high genomic mosaicism. However, recent evidence suggests that the human gut virome is remarkably stable compared with that of other environments. Here, we investigate the origin, evolution and epidemiology of crAssphage, a widespread human gut virus. Through a global collaboration, we obtained DNA sequences of crAssphage from more than one-third of the world's countries and showed that the phylogeography of crAssphage is locally clustered within countries, cities and individuals. We also found fully colinear crAssphage-like genomes in both Old-World and New-World primates, suggesting that the association of crAssphage with primates may be millions of years old. Finally, by exploiting a large cohort of more than 1,000 individuals, we tested whether crAssphage is associated with bacterial taxonomic groups of the gut microbiome, diverse human health parameters and a wide range of dietary factors. We identified strong correlations with different clades of bacteria that are related to Bacteroidetes and weak associations with several diet categories, but no significant association with health or disease. We conclude that crAssphage is a benign cosmopolitan virus that may have coevolved with the human lineage and is an integral part of the normal human gut virome.

Associations of moderate to vigorous physical activity and sedentary behavior with depressive and anxiety symptoms in self-isolating people during the COVID-19 pandemic: A cross-sectional survey in Brazil.

Abstract: This is a cross-sectional study evaluating the associations of self-reported moderate to vigorous physical activity, and sedentary behavior with depressive, anxiety, and co-occurring depressive and anxiety symptoms (D&A) in self-isolating Brazilians during the COVID-19 pandemic. Depressive and anxiety symptoms were collected using the Beck Depression and Anxiety Inventories (BDI and BAI). Among the 937 participants (females=72.3%), those performing ≥30 min/day of moderate to vigorous or ≥15 min/day of vigorous physical activity had lower odds of prevalent depressive, anxiety, and co-occurring D&A symptoms. Those spending ≥10 h/day sedentary were more likely to have depressive symptoms.