Miracle-dz/UniFAR-FTUs huggingface dataset:
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study

Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010–2017. Metabolic explorations for Fabry disease (FD), mitochondrial cytopathies, and fatty-acid metabolism disorders were carried out in patients with unexplained etiology. The prevalence of IMD in patients with HCM was 5.6% (confidence interval (CI): 2.6–11.6). Six cases of IMD were identified: 1 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, 1 Hurler syndrome, 2 Friedreich’s ataxia, 1 FD, and 1 short-chain acyl-CoA dehydrogenase deficiency. Three cases of IMD were identified in patients requiring CIEDs: 1 patient with Leber hereditary optic neuropathy, 1 FD, and 1 short chain acyl-CoA dehydrogenase (SCAD) deficiency. IMD prevalence in patients with CIEDs was 3.1% (CI: 1.1–8.8). IMD evaluation should be performed in unexplained HCM and cardiac rhythm abnormalities adult patients, since the prevalence of IMD is relatively important and they could benefit from specific treatment and family diagnosis.
The gateway to Africa: what determines sea crossing performance of a migratory soaring bird at the strait of Gibraltar?

Large bodies of water represent major obstacles for the migration of soaring birds because thermal updrafts are absent or weak over water. Soaring birds are known to time their water crossings with favourable weather conditions and there are records of birds falling into the water and drowning in large numbers. However, it is still unclear how environmental factors, individual traits and trajectory choices affect their water crossing performance, this being important to understand the fitness consequences of water barriers for this group of birds. We addressed this problem using the black kite (Milvus migrans) as model species at a major migration bottleneck, the Strait of Gibraltar. We recorded high-resolution GPS and triaxial accelerometer data for 73 birds while crossing the Strait of Gibraltar, allowing the determination of sea crossing duration, length, altitude, speed and tortuosity, the flapping behaviour of birds and their failed crossing attempts. These parameters were modelled against wind speed and direction, time of the day, solar irradiance (proxy of thermal uplift), starting altitude and distance to Morocco, and age and sex of birds. We found that sea crossing performance of black kites is driven by their age, the wind conditions, the starting altitude and distance to Morocco. Young birds made longer sea crossings and reached lower altitude above the sea than adults. Crosswinds promoted longer sea crossings, with birds reaching lower altitudes and with higher flapping effort. Birds starting at lower altitudes were more likely to quit or made higher flapping effort to complete the crossing. The location where birds started the sea crossings impacted crossing distance and duration. We present evidence that explains why migrating soaring birds accumulate at sea passages during adverse weather conditions. Strong crosswinds during sea crossings force birds to extended flap-powered flight at low altitude, which may increase their chances of falling in the water. We also showed that juvenile birds assume more risks than adults. Finally, the way in which birds start the sea crossing is crucial for their success, particularly the starting altitude, which dictates how far birds can reach with reduced flapping effort.
Changes in the Intestinal Microbiota Are Seen Following Treatment with Infliximab in Children with Crohn’s Disease

The aim of the study was to determine the impact of biological treatment with tumor necrosis factor α antibodies (anti-TNF-α) on the intestinal microbiome of children with severe Crohn’s disease (CD) and to evaluate the differences in the intestinal microbiome between patients treated with biological therapy and healthy children. Microbiota composition was analyzed by 16S next-generation sequencing (NGS) and microbial profiles were compared between studied groups. Fifty-four samples (from 18 patients before and after anti-TNF-α induction therapy and 18 healthy children) were used in the sequencing analysis. Shannon’s diversity index (p = 0.003, adj. p = 0.010) and observed operational taxonomic units (OTUs) (p = 0.007, adj. p = 0.015) were different between controls and patients with prior therapy for CD. Statistically significant dissimilarities between beta diversity metrics, indicating distinct community composition across groups, were observed in patients with CD before and after therapy. We did not observe any differences between controls and patients with CD after therapy. Core microbiome analysis at species level showed that 32 species were present only in patients with CD but not in controls. The results show that biological treatment is associated with changes in the intestinal microbiome of patients with CD: these changes result in an intestinal microbiome pattern similar to that seen in healthy children. Long-term observation is necessary to determine whether treatment can lead to full restoration of a healthy-like microbiome.
Substrate recognition and ATPase activity of the E. coli cysteine/cystine ABC transporter YecSC-FliY

Sulfur is essential for biological processes such as amino acid biogenesis, iron–sulfur cluster formation, and redox homeostasis. To acquire sulfur-containing compounds from the environment, bacteria have evolved high-affinity uptake systems, predominant among which is the ABC transporter family. Theses membrane-embedded enzymes use the energy of ATP hydrolysis for transmembrane transport of a wide range of biomolecules against concentration gradients. Three distinct bacterial ABC import systems of sulfur-containing compounds have been identified, but the molecular details of their transport mechanism remain poorly characterized. Here we provide results from a biochemical analysis of the purified Escherichia coli YecSC-FliY cysteine/cystine import system. We found that the substrate-binding protein FliY binds l-cystine, l-cysteine, and d-cysteine with micromolar affinities. However, binding of the l- and d-enantiomers induced different conformational changes of FliY, where the l- enantiomer–substrate-binding protein complex interacted more efficiently with the YecSC transporter. YecSC had low basal ATPase activity that was moderately stimulated by apo FliY, more strongly by d-cysteine–bound FliY, and maximally by l-cysteine– or l-cystine–bound FliY. However, at high FliY concentrations, YecSC reached maximal ATPase rates independent of the presence or nature of the substrate. These results suggest that FliY exists in a conformational equilibrium between an open, unliganded form that does not bind to the YecSC transporter and closed, unliganded and closed, liganded forms that bind this transporter with variable affinities but equally stimulate its ATPase activity. These findings differ from previous observations for similar ABC transporters, highlighting the extent of mechanistic diversity in this large protein family.
Depressive Disorders among Workers in the Selected Hotels in the Capital City of Kenya: A Cross Sectional Study on Prevalence and Correlates

Background: Depressive symptoms are potential outcomes of poorly functioning and demanding work environments. Such symptoms are frequent and cause considerable suffering for the employees as well as financial loss for the employers. As a major hub of tourist attraction and the current consistent terrorism threats, workers in hotel industries in Nairobi Kenya have significant pressure not only to deliver quality services but also are faced with declining tourist flow. Accordingly, studies of psychosocial working conditions and depressive symptoms in this industry are valuable. Objective : This study measured the levels of depressive disorders and associated correlates among workers in selected luxury hotel industries in Nairobi Kenya. Methods: This cross-sectional study, consented and enrolled 360 workers in selected hotels in Nairobi. A sociodemographic based questionnaire and a mental health screening tool; Patient Health Questionnaire (PHQ-9) were used to gather information relevant to this study. The data was analyzed for central tendencies as well as for any associations and correlations. Results: The mean age of the 360 respondents was 28.4 (SD± 4.98) years. The majority 84.2% were aged 20 to 30 years, 55.3% had secondary level education, 35.3% worked as waiters. Using the PHQ-9, 9.2% had major depressive disorder while 10% were categorized as other depressive disorders. In multivariate analysis, major depressive disorders were independently associated with staying in temporary housing (OR 0.1, 95% CI 0.03 to 0.6) and those whose adult household population was between 1 to 3 persons (OR 2.7, 95% CI 1.03 to 7). The other depressive disorders were independently associated with working in low end hotels (OR 5.3, 95% CI 1.2 to 22.7); having primary education level (OR 3.9, 95% CI 1.1 to 15.9); staying in temporary houses (OR 0.3, 95% CI 0.1 to 0.8); and with monthly income of 10,000 to 50,000 KSh (100 to 500USD). The Key informant interviews identified poor remuneration, management disregard to employees input, negative attitude from work and colleagues, hostile treatment by clients, employers and colleagues, long working hours, poor diet, domestic problems, political instabilities, pressure from family members and high standards of living as some of the factors contributing to work related depression. Conclusion: Cumulatively, significantly high proportion of hotel workers suffer from depressive disorders in Nairobi. If correlates such as socio-demographic and economic, influenced by working conditions are not tackled, workers in hotel industries in Nairobi are poised to record one of the highest levels of depressive disorders in Kenya. Keywords: Depressive disorders, Workers in selected hotels, Nairobi Kenya.
Novel Deep Learning Network Analysis of Electrical Stimulation Mapping-Driven Diffusion MRI Tractography to Improve Preoperative Evaluation of Pediatric Epilepsy

<italic>Objective:</italic> To investigate the clinical utility of deep convolutional neural network (DCNN) tract classification as a new imaging tool in the preoperative evaluation of children with focal epilepsy (FE). <italic>Methods:</italic> A DCNN tract classification deeply learned spatial trajectories of DWI white matter pathways linking electrical stimulation mapping (ESM) findings from 89 children with FE, and then automatically identified white matter pathways associated with eloquent functions (i.e., primary motor, language, and vision). Clinical utility was examined by 1) measuring the nearest distance between DCNN-determined pathways and ESM, 2) evaluating the effectiveness of DCNN-determined pathways to optimize surgical margins via Kalman filter analysis, and 3) evaluating how accurately changes in DCNN-determined language pathway volume can predict changes in language ability via canonical correlation analysis. <italic>Results:</italic> DCNN tract classification outperformed other existing methods, achieving an excellent accuracy of 98<inline-formula><tex-math notation="LaTeX">$\%$</tex-math></inline-formula> while non-invasively detecting eloquent areas within the spatial resolution of ESM (i.e., 1 cm). The Kalman filter analysis found that the preservation of brain areas within a surgical margin determined by DCNN tract classification predicted lack of postoperative deficit with a high accuracy of 92<inline-formula><tex-math notation="LaTeX">$\%$</tex-math></inline-formula>. Postoperative change of DCNN-determined language pathway volume showed a significant correlation with postoperative changes in language ability (R = 0.7, p <inline-formula><tex-math notation="LaTeX">$< $</tex-math></inline-formula> 0.001). <italic>Conclusion:</italic> Our findings demonstrate that postoperative functional deficits substantially differ according to the extent of resected white matter, and that DCNN tract classification may offer key translational information by identifying these pathways in pediatric epilepsy surgery. <italic>Significance:</italic> DCNN tract classification may be an effective tool to improve surgical outcome of children with FE.
nanoTRON: a Picasso module for MLP-based classification of super-resolution data

Abstract Motivation Classification of images is an essential task in higher-level analysis of biological data. By bypassing the diffraction limit of light, super-resolution microscopy opened up a new way to look at molecular details using light microscopy, producing large amounts of data with exquisite spatial detail. Statistical exploration of data usually needs initial classification, which is up to now often performed manually. Results We introduce nanoTRON, an interactive open-source tool, which allows super-resolution data classification based on image recognition. It extends the software package Picasso with the first deep learning tool with a graphic user interface. Availability and implementation nanoTRON is written in Python and freely available under the MIT license as a part of the software collection Picasso on GitHub (http://www.github.com/jungmannlab/picasso). All raw data can be obtained from the authors upon reasonable request. Contact jungmann@biochem.mpg. de Supplementary information Supplementary data are available at Bioinformatics online.
Crohn’s disease activity, recurrence and mesenteric complications: assessment by 3.0-T MR enteroclysis imaging

Poster: "ECR 2013 / C-0633 / Crohn’s disease activity, recurrence and mesenteric complications: assessment by 3.0-T MR enteroclysis imaging" by: "M. C. Bellucci, C. Valloncelli, L. Regi, M. Mustica, M. Scialpi; Perugia/IT"
Food addiction in young adult residents of Russia: Associations with emotional and anthropometric characteristics.

The incidence of food addiction (FA) and associations between FA and anthropometric and psycho-emotional characteristics of young Russian adults were studied. In this study, 1,237 students (age, M = 20.6, SD = 4.6 years; 79% females) of universities located in four cities of Russia were attended. They provided demographics and filled in the Yale Food Addiction Scale (YFAS), the Dutch Eating Behavior Questionnaire, and the Zung Self-Rating Depression Scale. Data were analysed via Chi-squared tests, logistic regression analysis, and an analysis of covariance. 13.2% of participants met diagnostic criteria for FA based on the YFAS. On average, the participants reported 2.6 FA symptoms (SD = 1.5). FA was more commonly detected in females (OR = 1.86, 95% CI = 1.10, 3.15, p = .021). No relationship was found between age and the incidence of FA. Significant positive associations between FA, the severity of depression (OR = 2.31, 95% CI = 1.91, 2.80, p = .000), and an emotional eating behaviour (OR = 1.45, 95% CI = 1.20, 1.76, p = .000) were found. The waist-to-height ratio was found to be the anthropometric indicator most closely associated with FA (OR = 1.49, 95% CI = 1.27, 1.76, p = .000). HIGHLIGHTS: The prevalence of food addiction in the current sample was 13.2%. In young Russian adults, emotional eating behaviour and depression are associated with food addiction. In young Russian adults, the waist-to-height ratio is the anthropometric indicator most closely associated with food addiction.
Smart Sensor Architectures for Multimedia Sensing in IoMT

Today, a wide range of developments and paradigms require the use of embedded systems characterized by restrictions on their computing capacity, consumption, cost, and network connection. The evolution of the Internet of Things (IoT) towards Industrial IoT (IIoT) or the Internet of Multimedia Things (IoMT), its impact within the 4.0 industry, the evolution of cloud computing towards edge or fog computing, also called near-sensor computing, or the increase in the use of embedded vision, are current examples of this trend. One of the most common methods of reducing energy consumption is the use of processor frequency scaling, based on a particular policy. The algorithms to define this policy are intended to obtain good responses to the workloads that occur in smarthphones. There has been no study that allows a correct definition of these algorithms for workloads such as those expected in the above scenarios. This paper presents a method to determine the operating parameters of the dynamic governor algorithm called Interactive, which offers significant improvements in power consumption, without reducing the performance of the application. These improvements depend on the load that the system has to support, so the results are evaluated against three different loads, from higher to lower, showing improvements ranging from 62% to 26%.
A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds

The genetic basis of congenital heart malformations associated with disruption of left–right (L–R) asymmetry is broad and heterogenous, with variants in over 25 genes implicated thus far. Of these, deleterious variants in the Growth/Differentiation Factor 1 (GDF1) gene have been shown to cause heterotaxy with varied complex heart malformations of left–right patterning, in 23 individuals reported to date, either in monoallelic or biallelic state. We report three unrelated individuals exhibiting right isomerism with congenital heart defects, each originating from a consanguineous kindred of Arab‐Muslim descent. Using whole exome sequencing, a shared novel homozygous truncating c.608G > A (p.W203*) variant in the GDF1 gene was revealed as the molecular basis of their disease. Subsequently, targeted sequencing of this variant showed full segregation with the disease in these families, with a total of over 15 reportedly affected individuals, enabling genetic counseling, prenatal diagnosis, and planning of future pregnancies. Our findings further confirm the association of biallelic GDF1 variants, heterotaxy and congenital heart defects of left–right patterning, and expand the previously described phenotypic spectrum and mutational profile. Moreover, we suggest targeted screening for the p.W203* variant in relevant clinical circumstances.
Hidden Markov model-based activity recognition for toddlers

Objective: Physical activity has been shown to impact future health outcomes in adults, but little is known about the long-term impact of physical activity in toddlers. Accurately measuring the specific types and amounts of physical activity in toddlers will help us to understand, predict, and better affect their future health outcomes. Although activity recognition has been extensively developed for adults as well as older children, toddlers move in ways that are significantly different from older children, indicating the need for a more tailored approach. Approach: In this study, 22 toddlers wore Actigraph waist-worn accelerometers which recorded their movements during guided play. The toddlers were videotaped and their activities were later annotated for the following eight distinct activity classes: lying down, being carried, riding in a stroller, sitting, standing, running/walking, crawling, and climbing up/down. Accelerometer data were extracted in 2 s signal windows and paired with the activities the toddlers were performing during that time interval. Main results: A variety of classifiers were tuned to a validation set. A random forest classifier was found to achieve the highest accuracy of 63.8% in a test set. To improve the accuracy, a hidden Markov model (HMM) was applied by providing the predictions of the static classifiers as observations. The HMM was able to improve the accuracy to 64.8% with all five classifiers increasing the accuracy an average of 1.3% points (95% confidence interval = 0.7–1.9, p < 0.01). When the three most misclassified activities (sitting, standing, and riding in a stroller) were collapsed together, the accuracy increased to 79.3%. Significance: Further refinement of the toddler activity recognition classifier will enable more accurate measurements of toddler activity and improve future health outcomes of toddlers.
Measuring fatigue following stroke: the Chinese version of the Fatigue Assessment Scale

Abstract Purpose The aim of this study was to translate and adapt the Fatigue Assessment Scale into Chinese, examine its psychometric properties, determine the levels of physical and mental fatigue, and compare the fatigue scores in stroke survivors with and without depressive symptoms. Methods The translation was conducted according to established guidelines and psychometric properties were examined in 112 stroke survivors. Physical and mental fatigue scores and between-group difference were compared. Results Content validity was good. Internal consistency (Cronbach’s α = 0.71–0.82) and test–retest reliability (intraclass correlation coefficient = 0.77–0.95; κ = 0.38–0.83) were satisfactory. Minimal detectable change was good. The scale had two factors without ceiling and floor effects. Significant correlations were found between the Chinese version of the Fatigue Assessment Scale and the Mental Fatigue Scale (r s = 0.68), Fatigue Severity Scale (r s = 0.57), Epworth Sleepiness Scale (r s = 0.36), and Fugl-Meyer Assessment of upper (r s = 0.24) and lower extremities (r s = 0.24). Physical fatigue score was higher than mental fatigue score (12.00 vs. 10.00). Participants with depressive symptoms had higher fatigue sum, physical, and mental scores than those without. Conclusion The Chinese version of the Fatigue Assessment Scale is reliable and valid for assessing fatigue. The level of physical fatigue was higher than that of mental fatigue. Participants with depressive symptoms had higher fatigue scores than those without. Implications for rehabilitation The Fatigue Assessment Scale has been translated and culturally adapted into Chinese. It is reliable and valid for evaluating fatigue in stroke survivors in both clinical and research settings. The Chinese version of the Fatigue Assessment Scale significantly correlated with the Mental Fatigue Scale, Fatigue Severity Scale, Epworth Sleepiness Scale, and Fugl-Meyer Assessment of upper and lower extremities. The level of physical fatigue was higher than that of mental fatigue in community-dwelling stroke survivors so interventions could target physical fatigue. More attention should be paid to stroke survivors with depressive symptoms as their level of fatigue was higher than those without.