Miracle-dz/UniFAR-FTUs huggingface dataset:
Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency

ABSTRACT LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Further investigations revealed causative mutations in the exon (c.2166_2766del) and intron (c.4730–3 T > G) of the LRBA gene. These results may provide further elucidation of the clinical phenotypes and responsible genetic factors of LRBA deficiency.
The Influence of Dermatologists' Use of Social Media on Attracting Patients.

BACKGROUND Many dermatologists consider social media to be a useful tool for building their practices and personal brands. However, limited data exists on patients’ perceptions of the value of social media in dermatology. OBJECTIVE To examine how social media influences patients when choosing a dermatologist and which aspects of dermatologists’ sites offer the most benefit to patients. METHODS A cross-sectional study was completed by sampling a diverse online population using a 10-question survey. RESULTS The survey was sent to 1,481 individuals; of the 57.5% who qualified, 98.5% completed the survey (N=715). Of the qualified respondents, 58% were female and 42% were male. Twenty five percent were 18-29 years, 24% were 30-44 years, 33% were 45-60 years, and 19% were over 60 years. Fifty-seven percent reported that social media is only slightly important or not at all important when selecting a dermatologist. According to respondents, patient reviews (68%), years of experience (61%), and medical information written by the dermatologist (59%) were the most important aspects of dermatologists’ social media sites. Cosmetic patients (P<0.0001), younger patients (P<0.0001), and participants with fewer years of education (P=0.0006) valued social media significantly more when selecting a dermatologist compared to their counterpart populations. LIMITATIONS Selection bias is possible given the survey was distributed only to SurveyMonkey® users. CONCLUSION Given the majority of patients reported that social media is not important or only slightly important, dermatologists should consider means other than social media to attract new patients to their practices. For dermatologists who use social media, they should highlight patient reviews, experience level, and original medical content. J Drugs Dermatol. 2020;19(5): doi:10.36849/JDD.2020. 4849.
Patients with lupus with COVID-19: University of Michigan experience

We read with interest the recent report by Mathian et al 1 regarding the clinical course of COVID-19 infection in 17 patients with systemic lupus erythematosus (SLE) under long-term hydroxychloroquine treatment. We report supportive findings in five patients with SLE, contextualised in a larger cohort of patients with rheumatological conditions, from an academic, tertiary-care population. Between 1 March and 20 April 2020, 31 patients followed at University of Michigan rheumatology clinics were diagnosed with COVID-19 (see online supplementary table 1). Five (16%) of these patients had SLE, four of whom were taking hydroxychloroquine with a median (range) duration of …
Minipuberty in Klinefelter syndrome: Current status and future directions

Klinefelter syndrome is highly underdiagnosed and diagnosis is often delayed. With the introduction of non‐invasive prenatal screening, the diagnostic pattern will require an updated description of the clinical and biochemical presentation of infants with Klinefelter syndrome. In the first months of life, the hypothalamic–pituitary–gonadal (HPG)‐axis is transiently activated in healthy males during the so‐called minipuberty. This period represents a “window of opportunity” for evaluation of the HPG‐axis before puberty and without stimulation tests. Infants with Klinefelter syndrome present with a hormonal surge during the minipuberty. However, only a limited number of studies exist, and the results are contradictory. Further studies are needed to clarify whether infants with Klinefelter syndrome present with impaired testosterone production during the minipuberty. The aim of this review is to describe the clinical and biochemical characteristics of the neonate and infant with Klinefelter syndrome with special focus on the minipuberty and to update the clinical recommendations for Klinefelter syndrome during infancy.
Incidence of New-Onset and Worsening Heart Failure Before and After the COVID-19 Epidemic Lockdown in Denmark

Background: The Danish government ordered a public lockdown on March 12, 2020, because of the coronavirus disease 2019 (COVID-19) pandemic. We investigated the immediate consequences of such a lockdown for patients with heart failure (HF). Methods: Using the Danish nationwide administrative databases, we investigated the incidence of new-onset HF and hospitalizations for worsening HF before and after the lockdown (January 1 to March 11 versus March 12 to March 31) in 2020 versus 2019. We also investigated the mortality for all patients with HF and in COVID-19–infected patients with HF. Results: Rates of new-onset HF between January 1 and March 11 were comparable for 2020 and 2019 (1.83 versus 1.78 per 10 000 person-years; P=0.19), while hospitalizations for worsening HF were slightly higher in 2020 versus 2019 (1.04 versus 0.93 per 1000 person-years; P=0.02). In the lockdown period, rates of new-onset HF diagnoses (1.26 versus 2.25 per 1000 person-years) and of hospitalizations for worsening HF (0.63 versus 0.99 per 1000 person-years) were significantly lower in 2020 versus 2019 (P for both, <0.0001). Mortality was similar before and after the national lockdown for the population with HF. We observed 90 HF patients with diagnosed COVID-19 infection, of whom 37% (95% CI, 23%–50%) died within 15 days. Conclusions: The number of patients hospitalized with worsening HF or diagnosed with new-onset HF was markedly reduced after lockdown but has not yet impacted mortality in HF patients at a population-based level. However, these data raise concerns for a potential undertreatment of HF currently that may impact prognosis in the longer term.
Assessing the CO2 capture potential of seagrass restoration projects

This research was conducted under projects BIOMARES and OPERA, funded by the EU (contracts no. LIFE 06 NAT/P/192 and FP-ENV-308393-2), project MEDEICG funded by the Spanish Ministry of Science and Innovation (ref. CTM2009-07013) and FISICOS (ref. FIS2007-60327) and the CSIRO Coastal Carbon Cluster, funded by the CSIRO.
Winter selection of landscapes by woodland caribou: behavioural response to geographical gradients in habitat attributes

Summary 1. Understanding animal-habitat relationships is central to the development of strategies for wildlife management and conservation. The availability of habitat attributes often changes along latitudinal and longitudinal axes, and animals may respond to those changes by adjusting their selection. We evaluated whether landscape selection by forest-dwelling woodland caribou Rangifer tarandus caribou varied along geographical gradients in habitat attributes. 2. Centroids {n = 422) of track networks made by caribou in winter were recorded during aerial surveys conducted over 161 920 km2 of boreal forest in Qu? bec, Canada. Autologistic models were estimated by comparing the characteristics of landscapes (201 km2) centred on each centroid to an equal number of randomly located landscapes, with an autocovariate controlling for the non independence among caribou locations. 3. The availability of habitat attributes varied along longitudinal and latitudinal gradients, and caribou altered their landscape selection with respect to those gradients. 4. Information Theory provided substantial support for only one model. The model revealed that the probability of occurrence of caribou increased with the abundance of conifer forests over most of the study region, but this positive response gradually became negative towards the southern portion of the region. The association between caribou and lichens changed from being negative west of the study region to being positive in the eastern part. Availability of landscapes dominated by lichen decreased from west to east. Finally, caribou generally displayed an aversion to areas with high road density, a negative association that became positive in the southern part of the study region. 5. Synthesis and applications. Under current legislation in Canada, the critical habitat of woodland caribou must be defined, and then protected. Our autoregressive models can help to identify landscapes to prioritize conservation efforts. The probability of occurrence of caribou was related to different landscape characteristics across their range, which implies that the typical habitat of woodland caribou differs spatially. Such behavioural plasticity could be problematic for defining critical habitat, but we showed that spatial variation in landscape selection was organized along geographical gradients. Our study illustrates how geographical trends in habitat selection can guide management and conservation decisions.
Umbilical Cord MSCs and Their Secretome in the Therapy of Arthritic Diseases: A Research and Industrial Perspective

The prevalence of arthritic diseases is increasing in developed countries, but effective treatments are currently lacking. The injection of mesenchymal stem cells (MSCs) represents a promising approach to counteract the degenerative and inflammatory environment characterizing those pathologies, such as osteoarthritis (OA). However, the majority of clinical approaches based on MSCs are used within an autologous paradigm, with important limitations. For this reason, allogeneic MSCs isolated from cord blood (cbMSCs) and Wharton’s jelly (wjMSCs) gained increasing interest, demonstrating promising results in this field. Moreover, recent evidences shows that MSCs beneficial effects can be related to their secretome rather than to the presence of cells themselves. Among the trophic factors secreted by MSCs, extracellular vesicles (EVs) are emerging as a promising candidate for the treatment of arthritic joints. In the present review, the application of umbilical cord MSCs and their secretome as innovative therapeutic approaches in the treatment of arthritic joints will be examined. With the prospective of routine clinical applications, umbilical cord MSCs and EVs will be discussed also within an industrial and regulatory perspective.
Analysis of Electron Transparent Beam-Sensitive Samples Using Scanning Electron Microscopy Coupled With Energy-Dispersive X-ray Spectroscopy

Abstract Scanning electron microscopy, coupled with energy-dispersive X-ray spectroscopy (EDS), is a powerful tool used in many scientific fields. It can provide nanoscale images, allowing size and morphology measurements, as well as provide information on the spatial distribution of elements in a sample. This study compares the capabilities of a traditional EDS detector with a recently developed annular EDS detector when analyzing electron transparent and beam-sensitive NaCl particles on a TEM grid. The optimal settings for single particle analysis are identified in order to minimize beam damage and optimize sample throughput via the choice of acceleration voltage, EDS acquisition time, and quantification model. Here, a linear combination of two models is used to bridge results for particle sizes, which are neither bulk nor sufficiently thin to assume electron transparent. Additionally, we show that the increased count rate obtainable with the annular detector enables mapping as a viable analysis strategy compared with feature detection methods, which only scan segmented regions. Finally, we discuss advantages and disadvantages of the two analysis strategies.
Duplication in ECR near HMX1 and a SNP in GATA6 Genes Regulate Microtia in Awassi Sheep

Microtia and anotia are hereditary traits characterized by an underdevelopment or complete absence of the outer ear. These congenital malformations observed in many species can exist as part of various syndromes or as an isolated trait as seen in the fat-tailed Awassi sheep breed. Our study aims to identify the genetic mutations causing microtia in Awassi sheep by DNA sequencing. DNA was extracted from blood samples randomly collected from 84 Awassi sheep (16 earless, 41 short ear and 27 normal ear) across different farms. GATA6 exons 1, 2, 4, 6 and 7, CLRN1 intron 3, DCC intron 2, ECR near HMX1 and the intergenic region between GATA6 and MIB1 genes were screened, amplified and sequenced. Allele and genotype frequencies were calculated by direct counting. Association was performed using chi-squared test for goodness-of-fit. Results showed mutations in only two genes significantly associated with microtia in Awassi: duplication in part of ECR near HMX1 (6:114293121-6:114293196) and a SNP at GATA6 exon 7 (23:34498242). Association results revealed that the ECR locus accounts for the microtia phenotype, while GATA6 exon 7 acts as a modifier gene. Genetic screening for these loci can be used to improve selection against microtia in Awassi sheep.
Microbiological Endogenous Processes in Biological Wastewater Treatment Systems

Microbiological endogenous processes in biological wastewater treatment systems (BWTSs) refer to combinations of biological and ecological mechanisms and processes, including endogenous respiration/cell maintenance, cell decay, death-regeneration/cryptic growth, predation on bacteria by higher microorganisms, and cell lysis due to viral attack or adverse environmental conditions (pH, toxic substances, temperature and others), which have significant effects on almost all aspects of BWTSs. However, the current state of knowledge about endogenous processes is very limited. With this review article, the definition of endogenous processes is identified and summarized. Based on a review of the relevant literature, the endogenous processes in BWTSs are classified at two microbial levels, a cell level and a community level. At the cell level, each living microbial cell needs a certain amount of energy to satisfy cell maintenance; the community level reveals interactions between microorganisms and operating parameters. Processes such as uncoupling, programmed cell death (PCD), starvation, viral infection, and predation are reviewed, and state-of-the-art information about these processes is summarized. The development of determining maintenance energy and decay rate of bacteria in BWTSs is also outlined. Based on these reviews, further research aspects related to endogenous processes are proposed.
Variation of Morphology among Juvenile Chinook Salmon of Hatchery, Hybrid, and Wild Origin

Abstract Body morphology differed significantly between juvenile hatchery Chinook salmon Oncorhynchus tshawytscha that have experienced five generations of hatchery culture and juveniles derived from the wild founding stock and cultured in the same environment. All lines tested were raised in a similar hatchery environment. Thin-plate spline analysis was used to characterize the morphometric variation among these lines of fish. Hatchery fish had a more compressed body, a narrower head, shorter maxillae, and a longer and narrower caudal peduncle than wild fish. Canonical discriminant analysis was able to correctly classify 88% of hatchery fish and 90% of wild fish. Second-generation hybrids of the two lines were morphologically intermediate to but significantly different from both the hatchery and wild lines, and they appeared to be more similar to the wild line. These results suggest that the differences observed between lines are largely genetic in origin and may be a result of the divergence of the hatc.
The Influence of Vaginal Native Tissue Repair (VNTR) on Various Aspects of Quality of Life in Women with Symptomatic Pelvic Organ Prolapse—A Prospective Cohort Study

Pelvic organ prolapse (POP) and the associated functional disorders are a major epidemiological problem that compromises the quality of life (QoL). The aim of this study was to assess the impact of lower urinary tract symptoms (LUTS) related to POP and vaginal native tissue repair (VNTR) on QoL. Two hundred patients with symptomatic POP were stratified into four groups according to the dominant storage phase function disorders: Urgency; stress urinary incontinence (SUI); mixed urinary incontinence (MUI), and without clinically significant symptoms from lower urinary tract (LUT). They underwent VNTR from January 2018 to February 2019. After 12 months, the QoL was assessed by the Prolapse Quality of Life (P-QoL) and visual analogue scale (VAS) questionnaires. The data were analyzed with Statistica package version 12.0 (StatSoft, Krakow, Poland), using the Kalmogorow–Smirnoff, Shapiro–Wilk W and the one-way analysis of variance with post hoc Tukey tests. The results of P-QoL showed significant improvement (p < 0.05) in all the study groups in most domains assessed before surgery and 12 months after surgery. Significant improvements in all the symptoms assessed by the VAS scale results were found in groups Urgency and MUI. The LUTS questionnaire revealed significant improvement in all voiding and post voiding symptoms in these groups. VNTR effectively eliminated LUTS and significantly improved the patients’ QoL associated with POP.
Wish you were here: The Dutch, German, and English Yearning in Situations of Loss Short Form

Abstract Objective(s) Yearning, a hallmark of grief disorders, relates to rumination and potentially to cognitive avoidance. We developed an 8‐item short form of the only existing validated yearning measure, the Yearning in Situations of Loss Scale (YSL), to improve its validity and administration ease. Method Cross‐sectional surveys were conducted among bereaved Dutch (N = 313) and German (N = 235) community samples and an American treatment‐seeking sample (N = 95). All samples completed the YSL, and community samples additionally measures of rumination, loss‐related avoidance, complicated grief (CG), and depression. Results A one‐factor model provided a good fit to the YSL Short Form (YSL‐SF) in the community samples. A two‐factor structure (cognitive and emotional yearning)best fitted the YSL‐SF in the treatment‐seeking sample. YSL‐SF scores correlated positively with rumination, loss‐related avoidance, and with CG symptoms whilst controlling for rumination and loss‐related avoidance. Conclusion The YSL‐SF appears an easy‐to‐administer and valid measure of yearning after bereavement.
The Use of Enhanced Technologies in Robotic Surgery and Its Impact on Outcomes in Rectal Cancer: A Systematic Review

The main advantage of the robotic approach is the surgical precision that the technology offers. It is particularly useful in rectal cancer as this is a technically challenging procedure. The technological advantage of the robot leads to better postoperative outcomes. Apart from the 3D vision and endowrist instrumentation in comparison to laparoscopy, the options of using fluorescence imaging, endowrist stapler, and table motion have revolutionised the way of performing an anterior resection. Thus, the true benefit of these advances will be the quality of the surgery, which leads to better postoperative outcomes. This article focuses on the current status of applications of new modalities and technology development in robotic rectal surgery. A systematic literature search was performed using PubMed, MEDLINE, and cochrane database. The studies included were considered based on the following (1) articles written in English, (2) full text is available, (3) whether the topic is related to the use of novel technologies during robotic rectal surgery, and (4) sample: adult patients and malignant rectal disease. The primary end point was to analyse the current use of technological advances in robotic rectal surgery. Only a few studies are currently available on the use of these different technologies in robotic colorectal surgery. Many of these reports describe promising results, although with short-term outcomes. The use of technologies in robotic colorectal surgery is safe and feasible and can be used together to improve short-term outcomes. Intraoperative fluorescence angiography has demonstrated to reduce the rate of anastomotic leak, whereas the robotic stapler and the table motion simplify anatomic resection.
An assessment of dietary intake, food avoidance and food beliefs in patients with ulcerative colitis of different disease status

Background/Aims Ulcerative colitis (UC) is a chronic, relapsing and remitting inflammation of the gastrointestinal tract. Little is known about the link between dietary intake, food avoidance, and beliefs among UC patients of different disease severity. Therefore, this study aimed to assess the dietary intake, food avoidance, and beliefs among active and inactive UC patients. Methods A cross-sectional study was conducted among UC patients from a tertiary medical center in Kuala Lumpur, Malaysia. Demographic, anthropometric, dietary intake, food avoidance and beliefs were assessed. Disease activity of UC patients was evaluated using the Powell Tuck Index. Results UC patients were recruited (64.1% inactive UC and 35.9% active UC). As compared to inactive UC patients, active UC patients were likely to lose weight (75.0% vs. 0%), possess certain food beliefs (95.7% vs. 39.0%), and frequently practiced dietary avoidance (95.7% vs. 43.9%). The dietary intake among inactive UC patients was higher than active UC patients. However, neither of them met the standard nutrients recommendation for protein, calcium, iron, folate, zinc, vitamin D, vitamin B12, and vitamin E. Conclusions Active UC patients had poorer dietary intake, were more prone to practicing food avoidance and exhibited certain food beliefs as compared to inactive UC patients. Both macro- and micronutrients intakes were inadequate regardless of patient’s disease status. These findings emphasized the importance for patients to be provided with the nutrition-related knowledge as part of strategies to avoid nutritional inadequacies.