Miracle-dz/UniFAR-FTUs huggingface dataset:
Clinical report follow up: Type 1 Collagenopathy presenting with a Russell–Silver phenotype

TO THE EDITOR: We provide an update on a patient with a type 1 Collagenopathy who presented with a phenotype similar to Russell–Silver syndrome (RSS), previously reported in 2011 by Parker et al. At that stage, the clinical report detailed a 10-year-old girl, the second of twins, with a phenotypic overlap between Osteogenesis Imperfecta (OI) and RSS. Her initial diagnosis was RSS, given her short stature and triangular face, whereas subsequent sequencing of genomic DNA showed that she was heterozygous for a missense mutation, p.Gly647Ser (amino acid 469 from the start of the collagen helix), in exon 29 of the COL1A1 gene. She had blue sclerae but had not sustained any fractures. Now aged 17 years, we present her ensuing clinical course, final height outcome and current phenotype: She is clinically well, has mild learning difficulties and is undertaking a Foundation Level course. Her main concern is her short stature. Despite the presence of a pathogenic COL1A1 variant, she had no fractures in early childhood, then three long bone fractures between 9 and 13 years. These include a right olecranon fracture with radial head dislocation aged 9, right mid shaft tibial fracture aged 11 and a right tibial fracture aged 13. These were in the context of sufficient physical force to explain the fractures, except the third episode where the lower force mechanism was suggestive of a fragility fracture. In view of her short stature, she received growth hormone therapy under the indication of being small for gestational age from the age of 8.5 years to 11.5 years, with no significant improvement in growth velocity and no decline on cessation. She had normal puberty and menarche, has regular menses but a markedly reduced final height. She is not currently on any medication. She has no visual or hearing problems. Physical examination aged 17 years shows head circumference 51 cm, weight 39.4 kg (Z score −2.9), and height 129.2 cm (Z score −5.2). She has deep set eyes, grey-blue sclerae and no appreciable ligamentous laxity except for plantar eversion. Skeletal abnormalities include left femoral shortening giving 2.5 cm leg length discrepancy, accompanied by compensatory mild scoliosis, bilateral anterior tibial bowing, left third and fourth toes shorter than the right and a widened interdigital space between first and toes. Radiographs of lumbar and thoracic spine confirm normal vertebral morphology and scoliosis centered around L1 convex to the left with Cobb angle 17 . Dual energy x-ray absorptiometry shows normal bone density: lumbar spine bone mineral density (BMD) Z score −1.3 and subtotal body BMD Z score −0.8, both with normal young adult range and normal height adjusted BMD (69th centile).
Myths about “The myths about work addiction”

The present paper encompasses a response to the debate paper by Griffiths et al. about work addiction myths. Generally, we found weak empirical basis for the statement that there exist major myths and controversies regarding work addiction. Although we agree with Griffiths et al. on several issues, we argue that: (a) although work addiction is not a new behavioral addiction, work addiction research is still in its infancy; (b) work addiction is largely similar to other behavioral addictions; (c) work addiction and workaholism are actually the same; and (d) there is no compelling evidence that work addiction occurs before adulthood.
The fascinating biology behind phage display: filamentous phage assembly

With the recently awarded Nobel Prize to the inventor of Phage Display, George Smith, the technique has once more gained attention. However, one should not forget about the biology behind the method. Almost always ignored is how the structure of this bacterial virus is assembled. In contrast to lytic phages, filamentous phages are constantly being extruded through the bacterial membranes without lysis. Such filamentous phages are found in all aquatic environments, such as rivers and lakes, in the deep sea, in arctic ice, in hot springs and, associated with their hosts, in plants and animals including humans. While most filamentous phages infect Gram‐negative hosts, inoviruses of Gram‐positive hosts have also been described. Despite being among the minority within the phage family with an estimate of less than 5%, filamentous phages are real parasites as they exist at the expense of the host, but do not kill it. In contrast to lytic bacteriophages, filamentous phages are assembled in the host’s membrane and extruded across the cellular envelope while the bacterium continues to grow. In this review, we focus on this complex and yet poorly understood process of assembly and secretion of filamentous phages.
Morphology and evolution of the wing bullae in South American Leptophlebiidae (Ephemeroptera)

Insects were the first animals to take to the skies, and have been flying for over 320 million years. The order Ephemeroptera is, or at least is part of, the most early‐diverging lineage of extant winged insects. The extant species present a very short adult life span, mainly dedicated to reproduction and dispersal of eggs. Mating and egg‐laying behavior depend on flight. Wings are structures to fly and as such face a number of physical and physiological challenges. The convex curvature along the anterior–posterior axis of the wing generates a camber that must be carefully regulated. One of the most interesting ways of wing bending is provided by the bullae, which have been defined as short sections of flexible chitin, where the flexion lines cross veins. Although the bullae have been frequently used as taxonomic characters, there is no study focused on their morphology, although their prevalence on the wings of mayflies strongly suggests a role in flight. In order to identify evolutionary trends of these structures within Ephemeroptera, we constructed a matrix with comparative anatomy data of the bullae from whole mounts of the wings of 300 specimens belonging to 70 species of several mayfly families, as well as scanning microscopy samples of selected specimens. We also surveyed the number of bullae and their distribution in the wings of the different species within the South American Leptophlebiidae clade. We optimized the characters onto the latest published phylogeny for Leptophlebiidae.
Microbial communities in swine lungs and their association with lung lesions

Under natural farming, environmental pathogenic microorganisms may invade and affect swine lungs, further resulting in lung lesions. However, few studies on swine lung microbiota and their potential relationship with lung lesions were reported. Here, we sampled 20 pigs from a hybrid herd raised under natural conditions; we recorded a lung‐lesion phenotype and investigated lung microbial communities by sequencing the V3‐V4 region of 16S rRNA gene for each individual. We found reduced microbial diversity but more biomass in the severe‐lesion lungs. Methylotenera, Prevotella, Sphingobium and Lactobacillus were the prominent bacteria in the healthy lungs, while Mycoplasma, Ureaplasma, Sphingobium, Haemophilus and Phyllobacterium were the most abundant microbes in the severe‐lesion lungs. Notably, we identified 64 lung‐lesion‐associated OTUs, of which two classified to Mycoplasma were positively associated with lung lesions and 62 showed negative association including thirteen classified to Prevotella and six to Ruminococcus. Cross‐validation analysis showed that lung microbiota explained 23.7% phenotypic variance of lung lesions, suggesting that lung microbiota had large effects on promoting lung healthy. Furthermore, 22 KEGG pathways correlated with lung lesions were predicted. Altogether, our findings improve the knowledge about swine lung microbial communities and give insights into the relationship between lung microbiota and lung lesions.
Clinical findings and outcome of dogs with unilateral masticatory muscle atrophy

Background Little is known about the spectrum of underlying disorders in dogs with unilateral masticatory muscle (MM) atrophy. Objectives To evaluate the clinical presentation, magnetic resonance imaging (MRI) findings, and outcome of dogs with unilateral MM atrophy. Animals Sixty‐three client‐owned dogs. Methods The medical database was retrospectively reviewed for dogs that underwent MRI for evaluation of unilateral MM atrophy. Imaging studies were reviewed and follow‐up information was obtained from telephone interviews. Results Presumptive trigeminal nerve sheath tumor (pTNST) was diagnosed in 30 dogs (47.6%); survival time varied from 1 day to 21 months (median, 5 months). Other extra‐axial mass lesions were observed in 13 dogs (20.6%); survival time varied from 6 days to 25 months (median, 2.5 months). In 18 dogs (28.6%), no abnormalities were observed on MRI; neurological signs only progressed in 1 dog. Diagnosis had a significant influence on the type of neurological abnormalities, with additional neurological deficits observed in most dogs with pTNST and in all dogs with other extra‐axial mass lesions. Diagnosis had a significant effect on euthanasia at the time of diagnosis and likelihood of neurological deterioration. Dogs with mass lesions were more likely to be euthanized or experience neurological deterioration, whereas these outcomes occurred less often in dogs in which no causative lesion could be identified. Conclusions and Clinical Importance Trigeminal nerve sheath tumors should not be considered the only cause of unilateral MM atrophy. Our results illustrate the importance of performing a neurological examination and MRI when evaluating dogs with unilateral MM atrophy.
Whole‐lesion ADC histogram analysis and the spondyloarthritis research consortium of canada (SPARCC) MRI index in evaluating the disease activity of ankylosing spondylitis

Conventional MRI is limited in quantitative evaluation of ankylosing spondylitis (AS) activity states. A comparison of the effectiveness of the whole‐lesion apparent diffusion coefficient (ADC) histogram analysis with the Spondyloarthritis Research Consortium of Canada (SPARCC) MRI index in evaluating the disease activity of AS might aid in this assessment.
The Journal of Rheumatology Tissue Disease and Associated with Abnormal Pulmonary Function Tests Abnormal Nailfold Capillaroscopy Is Common in Patients with Connective

Objective . To assess the presence of a systemic sclerosis (SSc) pattern on nailfold capillary microscopy (NCM) in patients with Raynaud phenomenon (RP) and to explore its association with abnormal pulmonary function tests (PFT). Methods . NCM patterns were assessed in 759 consecutive patients with RP. Patterns were classified as normal (n = 354), nonspecific (n = 159), or SSc pattern (n = 246). Abnormal PFT was defined as forced vital or diffusion capacity < 70%. Patients were classified as primary RP (n = 245), or secondary: no definite diagnosis (n = 391), SSc (n = 40), primary Sjögren syndrome (pSS; n = 30), systemic lupus erythematosus (SLE; n = 30), mixed connective tissue disease (MCTD; n = 7), rheumatoid arthritis (RA; n = 15). Results . An SSc pattern on NCM was frequently observed in most patients with a definite diagnosis: SSc (88%), pSS (33%), SLE (17%), MCTD (71%), and RA (13%). In patients without definite diagnosis, 17% had a normal NCM pattern, 35% nonspecific, and 48% SSc pattern. Abnormal PFT was more frequent in patients with an SSc pattern (35.9% vs 19.5%, p = 0.002), even when corrected for SSc diagnosis (p = 0.003). Absence of an SSc pattern had high negative predictive value (88%); positive predictive values were low. Conclusion pattern NCM is common in patients with RP, and in those with connective tissue diseases other than SSc. It is associated with a higher prevalence of abnormal PFT, independent of the presence of an SSc diagnosis. Although these data need validation in a prospective setting, they underline the importance of NCM in RP and putative value to stratify the risk of pulmonary involvement in early stages of disease. (J Rheumatol First Release December 15 2018; doi:10.3899/
Human tularaemia associated with exposure to domestic dogs—United States, 2006–2016

Dogs have been implicated in the zoonotic transmission of numerous pathogens. Whereas cats are known to transmit Francisella tularensis to humans via bite and other routes, the role of dogs in facilitating infection is much less understood. We reviewed tularaemia case investigation records collected through national surveillance during 2006–2016 to summarize those with dog involvement, characterize the nature of dog‐related exposure and describe associated clinical characteristics. Among 1,814 human tularaemia cases, 735 (41%) supplemental case investigation records were available for review; and of those, 24 (3.3%) were classified as dog‐related. Median age of patients was 51 years (range: 1–82); 54% were female. Two thirds (67%) of cases presented with ulceroglandular/glandular tularaemia; pneumonic (13%) and oropharyngeal (13%) illness occurred less frequently. Dog‐related exposures were classified as follows: direct contact via bite, scratch or face snuggling/licking (n = 12; 50%); direct contact with dead animals retrieved by domestic dogs (n = 8; 33%); and contact with infected ticks acquired from domestic dogs (n = 4; 17%). Prevention of dog‐related tularaemia necessitates enhanced tularaemia awareness and tick avoidance among pet owners, veterinarians, health care providers and the general public.
Topical hyaluronic acid in the management of oral lichen planus: A comparative study.

AIM Oral lichen planus (OLP) is a chronic mucocutaneous disorder seen in clinical dental practice. Despite the progress in research and advances in knowledge, the successful management of OLP is still difficult to achieve. The aim of the present study was to compare the therapeutic effects of triamcinolone (TA) preparation (0.1%) with hyaluronic acid (HA) preparation (0.2%) in the management of OLP. METHODS In total, 40 patients of any age or sex who had symptomatic OLP were selected and randomly divided into two groups. Group I received topical 0.1% TA, and group II received topical 0.2% HA preparation three times per day for a period of 4 weeks. Basement data were recorded for each patient. Patients were evaluated on days 14 and 21, and after completing the course of treatment. The visual analog scale (VAS) was used for evaluating pain and burning sensation, along with an evaluation of the degree of erythema and mean area of the lesion. Data were analyzed by SPSS 17.0 software using Mann-Whitney and t test. P ≤ 0.05 was considered statistically significant. RESULTS Our results showed considerable improvement in all of the parameters evaluated. Baseline characteristics, including pain score, size, and clinical characteristics of the lesions, were not different between the two treatment groups. Both TA and HA were found to reduce the VAS score, the degree of erythema, and size of the lesions after treatment. CONCLUSION The application of HA is suggested, and is an effective substitute for TA in the treatment of OLP.
Follicular dynamics and changes in oestradiol‐17&bgr;, progesterone and LH profiles following PGF2&agr; induced oestrus in early and late ovulating Beetal goats

This study compares the factors associated with variable interval to oestrus and ovulation between early versus late ovulating goats following PGF2α administration. The time of ovulation in Beetal goats (n = 38) was monitored through transrectal ultrasound at every 6 hr following a single dose of PGF2α (experiment 1). Variations in oestrus and ovulation times were further explored through the changes in follicular dynamics, endocrine profiles and behaviour in another set of goats (n = 13) following single PGF2α given randomly during the luteal phase (experiment 2). The ovulation time varied between 60 and 96 hr, and 57% of ovulations occurred by 72 hr following PGF2α (experiment 1). Accordingly, the goats (n = 13) in the second experiment were retrospectively divided either into early and/or late ovulating, that is, ≤72 and/or ≥84 hr following PGF2α . The onset of oestrus, peak estradiol-17β concentration and LH surge after PGF2α was first observed in early than late ovulating goats (p < 0.05). The goats ovulating early had larger follicle and smaller CL in diameter at the time of PGF2α administration than those ovulating late (5.4 ± 0.2 vs. 4.3 ± 0.2 mm and 10 ± 0.6 vs. 11.8 ± 0.3 mm, respectively; p < 0.05). Likewise, plasma progesterone concentration tended to be lower (p = 0.087) in early than late ovulating goats. In conclusion, the size of dominant follicle and CL at the time of PGF2a determines the interval to ovulation following a single dose of PGF2a during the luteal phase.
Deficits in Inhibitory Control May Place Service Members at Risk for Posttraumatic Stress Disorder and Negative Parenting Behavior Following Deployment-Related Trauma.

This study examined the mediating role of posttraumatic stress disorder (PTSD) symptoms in the association between deployment-related trauma exposure and parenting behaviors in reserve-component military service members and whether this association was contingent upon parent inhibitory control (IC). Participants were 181 postdeployed fathers and their children. Fathers completed a neurospychological test of IC and self-report measures of trauma exposure and PTSD symptoms. Measures of parenting behaviors (positive engagement and reactivity coercion) were obtained from direct observation of father-child interaction. Results demonstrated that (a) fathers' PTSD symptoms indirectly mediated the effect of trauma exposure on both measures of parenting (i.e., negative indirect effect for positive engagement, point estimate = -.0045, 95% CI [-.0107, -.0003], and positive indirect effect for reactivity coercion, point estimate = .0061, 95% CI [.0007, .0146]); (b) fathers' IC skills moderated the association between trauma exposure and PTSD, β = . 14, p = . 043, such that the association was positive and significant for fathers with high and medium IC but nonsignificant for fathers with low IC; and (c) the indirect effect of trauma exposure on both parenting measures through PTSD was dependent upon IC, point estimate = . 0341, 95% CI [. 0005, . 0687]. These findings indicate that fathers with low IC skills tended to have higher rates of PTSD symptoms and related negative parenting behaviors, even for individuals with relatively low degrees of deployment-related trauma exposure. Results highlight the importance of IC as a potential moderating factor in the association between trauma exposure, PTSD, and parenting.
High-Efficiency Nose-to-Lung Aerosol Delivery in an Infant: Development of a Validated Computational Fluid Dynamics Method.

Background: Computational fluid dynamics (CFD) provides a powerful tool for developing new high-efficiency aerosol delivery strategies, such as nose-to-lung (N2L) aerosol administration to infants and children using correctly sized aerosols. The objective of this study was to establish numerically efficient CFD solution methods and guidelines for simulating N2L aerosol administration to an infant based on comparisons with concurrent in vitro experiments. Materials and Methods: N2L administration of a micrometer-sized aerosol (mass median aerodynamic diameter [MMAD] = 1.4 μm) was evaluated using concurrent CFD simulations and in vitro experiments. Aerosol transport and deposition was assessed in a new nasal airway geometry of a 6-month-old infant with a streamlined nasal cannula interface, which was constructed as a CFD mesh and three-dimensionally printed to form an identical physical prototype. CFD meshes explored were a conventional tetrahedral approach with near-wall (NW) prism elements and a new polyhedral mesh style with an equally refined NW layer. The presence of turbulence in the model was evaluated using a highly efficient low-Reynolds number (LRN) k-ω turbulence model, with previously established NW corrections that accounted for anisotropic wall-normal turbulence as well as improved NW velocity interpolations and hydrodynamic particle damping. Results: Use of the new polyhedral mesh was found to improve numerical efficiency by providing more rapid convergence and requiring fewer control volumes. Turbulent flow was found in the nasal geometry, generated by the inlet jets from the nasal cannula interface. However, due to the small particle size, turbulent dispersion was shown to have little effect on deposition. Good agreement was established between the CFD predictions using the numerically efficient LRN k-ω model with appropriate NW corrections and in vitro deposition data. Aerosol transmission efficiencies through the delivery tube, nasal cannula, and infant nasal model, based on experimental and CFD predictions, were 93.0% and 91.5%, respectively. Conclusions: A numerically efficient CFD approach was established to develop transnasal aerosol administration to infants and children. Small particle aerosols with aerodynamic diameters of ∼1.5 μm were confirmed to have low inertial depositional loss, and have low deposition from turbulent dispersion, making them ideal for high-efficiency lung delivery through an infant nasal cannula interface.
The Impact of Electrical Charge Delivery on Inhibition of Mechanical Hypersensitivity in Nerve‐Injured Rats by Sub‐Sensory Threshold Spinal Cord Stimulation

Spinal cord stimulation (SCS) represents an important neurostimulation therapy for pain. A new ultra‐high frequency (10,000 Hz) SCS paradigm has shown improved pain relief without eliciting paresthesia. We aim to determine whether sub‐sensory threshold SCS of lower frequencies also can inhibit mechanical hypersensitivity in nerve‐injured rats and examine how electric charge delivery of stimulation may affect pain inhibition by different patterns of subthreshold SCS.
VGLUT3 gates psychomotor effects induced by amphetamine

Several subtypes of modulatory neurons co‐express vesicular glutamate transporters (VGLUTs) in addition to their cognate vesicular transporters. These neurons are believed to establish new forms of neuronal communication. The atypical VGLUT3 is of particular interest since in the striatum this subtype is found in tonically active cholinergic interneurons (TANs) and in a subset of 5‐HT fibers. The striatum plays a major role in psychomotor effects induced by amphetamine. Whether and how VGLUT3‐operated glutamate/ACh or glutamate/5HT co‐transmissions modulates psychostimulants‐induced maladaptive behaviors is still unknown. Here, we investigate the involvement of VGLUT3 and glutamate co‐transmission in amphetamine‐induced psychomotor effects and stereotypies. Taking advantage of constitutive and cell‐type specific VGLUT3‐deficient mouse lines, we tackled the hypothesis that VGLUT3 could gate psychomotor effects (locomotor activity and stereotypies) induced by acute or chronic administration of amphetamine. Interestingly, VGLUT3‐null mice demonstrated blunted amphetamine‐induced stereotypies as well as reduced striatal ∆FosB expression. VGLUT3‐positive varicosities within the striatum arise in part from 5HT neurons. We tested the involvement of VGLUT3 deletion in serotoninergic neurons in amphetamine‐induced stereotypies. Mice lacking VGLUT3 specifically in 5HT fibers showed no alteration to amphetamine sensitivity. In contrast, specific deletion of VGLUT3 in cholinergic neurons partially phenocopied the effects observed in the constitutive knock‐out mice. Our results show that constitutive deletion of VGLUT3 modulates acute and chronic locomotor effects induced by amphetamine. They point to the fact that the expression of VGLUT3 in multiple brain areas is pivotal in gating amphetamine‐induced psychomotor adaptations.