Miracle-dz/UniFAR-FTUs huggingface dataset:
Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course. At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents and in 80% of adults, but epilepsy severity progressively decreased through age. Seizure persistence correlated with the complete phenotype and with the occurrence of reflex seizures. At last evaluation, ID was moderate or severe in 70.5% of adolescents and in 80% of adults. The most severe cognitive and motor impairment was observed in patients with persisting seizures. The severity of cognition, language, and neurologic impairment at last evaluation correlated statistically with the complete phenotype. The study confirms that the global outcome of DS is poor in most cases, albeit epilepsy severity decreases throughout adulthood. The improvement of epilepsy throughout ages is not associated with improvement in intellectual abilities and motor skills; this confirms that the unfavorable outcome is not a pure consequence of epilepsy.
Similar Effects of Acute Resistance Exercise on Carotid Stiffness in Males and Females

Abstract Sex differences exist in vascular responses to blood pressure perturbations, such as resistance exercise. Increases in aortic stiffness following acute resistance exercise appear different between sexes, with attenuated increases in females vs. males. Whether sex differences exist in carotid stiffness, following resistance exercise is unknown. This study sought to examine sex differences in carotid stiffness, aortic stiffness, and hemodynamics following acute resistance exercise. Thirty-five participants (18 male) completed 3 sets of 10 repetitions of maximal isokinetic knee extension/flexion. Aortic stiffness and hemodynamics were estimated using an automated oscillometric blood pressure monitor at baseline, 5- and 30-min post-exercise. Carotid stiffness was assessed by β-stiffness index, pressure-strain elastic modulus and arterial compliance using ultrasonography. Resistance exercise increased aortic stiffness, mean and systolic pressure at 5-min (p<0.01), and pressure-strain elastic modulus at 5-min in both sexes (p<0.05). Arterial compliance decreased at 5- and 30-min post exercise in both sexes (p<0.01). No interaction effects were detected in carotid stiffness, aortic stiffness, and hemodynamics, indicating similar vascular responses between sexes. Our findings indicate that the large arteries appear to stiffen similarly following resistance exercise in males and females when presented with similar blood pressure responses.
Anatomy of Ankle Syndesmotic Ligaments: A Systematic Review of Cadaveric Studies

Diagnosis and management of isolated syndesmotic injuries are controversial and highly debated. Hence, the aim of this study is to explore and gain the current understanding pertaining to detailed anatomy of syndesmotic ligaments through a systematic review of published cadaveric studies. A systematic review was conducted online for literature published in English using PubMed and Google Scholar, as per PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, up to April 30, 2019. Predefined eligibility criteria were applied, and the data thus compiled was analyzed. Study quality was assessed based on Quality Appraisal for Cadaveric Studies (QUACS) scale. A total of 12 studies reporting 365 ankles were included in this review. Considerable inconsistency in the naming and description of syndesmotic ligaments was observed, with only 2 studies reporting the vasculature of the ligaments. Hence further investigation of the anatomy of the syndesmotic ligaments is recommended so as to better inform clinical practice, as awareness of anatomy is critical for assessment, healing, and successful surgical management. Levels of Evidence: Level III: Systematic review of anatomical dissections
Paths of femoral nerve catheters placed using ultrasound-guided in plane vs out of plane techniques

Background: Continuous blockade of the femoral nerve is widely used for postoperative analgesia after hip surgery. It can be achieved by ultrasound-guided placement of a femoral nerve catheter via either the in plane (IP) or out of plane (OOP) technique. On the basis of postoperative radiographs, we evaluated the paths of femoral nerve catheters with respect to both techniques and its effect on postoperative analgesia. Methods: Thirty-four patients were randomized to receive a radiopaque femoral nerve catheter via either the IP or OOP technique. The paths and tip position of the catheters were evaluated in postoperative frontal radiographs of the operated hip joint concerning a predefined target region and four neighboring regions. Pain scores were assessed using a numeric rating scale (0–10). Results: Sixteen IP patients and 18 OOP patients were included in the study. The catheter path was radiographically evaluated in 13 IP patients and in 10 OOP patients. The catheter tips were located within the target region in 39% of the IP group and in 50% of the OOP group. The catheter tip was 0.00 cm [−3.80 to 3.84] and −1.19 cm [−12.27 to 0.00] (median [range]) from the target region in the OOP group and IP group, respectively (P = .045). Catheters flipped distally more often in the IP group (IP: 61.5%, OOP: 10.0%; P = .01). There were no marked differences in the pain scores of either group. Conclusion: Femoral nerve catheters inserted by the ultrasound-guided IP technique flip distally more frequently than catheters inserted by the OOP technique. Moreover, the distance between the catheter tip and the trunk of the femoral nerve is greater for IP catheters than for OOP catheters. Despite these findings, postoperative analgesia did not seem to differ between the 2 techniques.
Dexamethasone Addition to Popliteal Nerve Blocks: Effects on Duration of Analgesia and Incidence of Postoperative Nerve Complication

Background. The purpose of this prospective, double-blinded randomized control pilot study was to evaluate the effect of adjunctive dexamethasone on analgesia duration and the incidence of postoperative neuropathic complication. Peripheral nerve blocks are an effective adjunct to decrease postoperative pain in foot and ankle surgery, and any possible modalities to augment their efficacy is of clinical utility. Methods. Patients were randomly assigned to a control group (n = 25) receiving nerve blocks of bupivacaine and epinephrine or an experimental group (n = 24) with an adjunctive 8 mg dexamethasone. The patients, surgeons, and anesthesiologists were all blinded to allocation. Patients had a minimum 1 year postoperative follow-up. Results. Forty-nine patients completed the protocol. There was no statistically significant difference in analgesia duration (P = .38) or postoperative neuropathic complication incidence (P = .67) between the 2 groups. Conclusions. The addition of dexamethasone to popliteal nerve blocks does not appear to affect analgesia duration or incidence of postoperative neuropathic complications. However, our study was underpowered, and we recommend a larger scale prospective study for validation. Levels of Evidence: Level II: Prospective, randomized control pilot study
Loss of circadian gene Bmal1 in the collecting duct lowers blood pressure in male, but not female, mice.

Kidney function follows a 24-hour rhythm subject to regulation by circadian genes including the transcription factor Bmal1. High salt diet induces a phase shift in Bmal1 expression in the renal inner medulla that is dependent on endothelin B receptors (ETB). Further, ETB receptor-mediated natriuresis is sex-dependent. Therefore, experiments tested the hypothesis that collecting duct Bmal1 regulates blood pressure in a sex-dependent manner. We generated a mouse model that lacks Bmal1 expression in the collecting duct where ETB receptor abundance is highest. Male, but not female, collecting duct Bmal1 knockout (CDBmal1KO) mice had significantly lower 24 hour mean arterial pressure (MAP) compared to flox controls (Male: 105±2 vs 112±3 mmHg; female: 106±1 vs 108±1 mmHg, by telemetry). After 6 days of a high salt (4% NaCl) diet, MAP of male CDBmal1KO mice remained significantly lower than flox control (107±2 vs 113±1 mmHg) with no significant differences between genotypes in female mice (108±2 vs 109±1 mmHg). ETB receptor blockade for another 6 days increased MAP similarly in both male and female CDBmal1KO and flox control mice. However, MAP remained lower in male CDBmal1KO compared to flox controls (124±2 vs 130±2 mmHg). No significant differences were observed between female CDBmal1KO and flox during ETB blockade (130±2 vs 127±2 mmHg). There were no significant genotype differences in amplitude or phase of MAP in either sex. These data suggest that collecting duct Bmal1 has no role in circadian MAP, but plays an important role in overall blood pressure in male, but not female, mice.
Prenatal diagnosis of foetal hydrocephalus and suspected X-linked recessive inheritance of cleft lip in a Chihuahua

A 3.5-year-old, 2.9 kg, multiparous Chihuahua presented with abdominal distension; pregnancy was diagnosed. On Day 7 before parturition, prenatal sonograms showed anechoic bilateral dilated cerebral lateral ventricles, suggesting fluid-filled regions (ventriculomegaly) in one foetus. A Caesarean section was performed and the male newborn had an abnormally enlarged dome-shaped head and a cleft lip, and died 6 days after birth. According to the family pedigree, the X-linked recessive inheritance of an orofacial cleft from the unaffected mother was suggested. This report clearly demonstrates that canine foetal ventriculomegaly (hydrocephalus) can be diagnosed in utero. For dog breeds predisposed to congenital ventriculomegaly, early detection is important for the prediction of perinatal survival and adequate supportive care can be applied at delivery.
Importance of Preoperative Computed Tomography Assessment of the Membranous Septal Anatomy in Patients Undergoing Transcatheter Aortic Valve Replacement With a Balloon-Expandable Valve.

BACKGROUND Cardiac conduction disturbance (CD) is the most frequent complication following transcatheter aortic valve replacement (TAVR). This study examined whether the anatomy of the membranous septum (MS) could provide useful information about the risk of CD following TAVR with a balloon-expandable valve (BEV). Methods and Results:Among 132 consecutive patients, 106 (mean age, 85.6±5.1 years; 75 females) were included in the study. Using preoperative CT and angiography, MS length and implantation depth (ID) were assessed. The MS length minus the prosthesis ID was calculated (∆MSID). Correlation between CD, defined as new-onset left-bundle branch block (LBBB) or the need for permanent pacemaker (PPM) within 1 week after the procedure, and MS length were evaluated. A total of 19 patients (18%) developed CD following TAVR. MS length was significantly shorter in these patients than in those without CD (5.3±1.3 vs. 6.6±1.4; P<0.001), and was the important predictor of CD (odds ratio [OR]: 0.43, 95% confidence interval [CI]: 0.27-0.69, P<0.001). When considering the pre- and postprocedural parameters, the ∆MSID was smaller in patients with CD (-1.7±1.5 vs. 0.8±1.9, P<0.001), and emerged as the important predictor of CD (OR: 0.47, 95% CI: 0.33-0.69, P<0.001). CONCLUSIONS Short MS is associated with an increased risk of CD after TAVR with BEV.
Endovascular Repair of Blunt Thoracic Aortic Trauma is Associated With Increased Left Ventricular Mass, Hypertension, and Off-target Aortic Remodeling

Background: Aortic elasticity creates a cushion that protects the heart from pressure injury, and a recoil that helps perfuse the coronary arteries. TEVAR has become first-line therapy for many aortic pathologies including trauma, but stent-grafts stiffen the aorta and likely increase LV afterload. Objective: Test the hypothesis that trauma TEVAR is associated with LV mass increase and adverse off-target aortic remodeling. Methods: Computed Tomography Angiography (CTA) scans of 20 trauma TEVAR patients (17 M/3 F) at baseline [age 34.9 ± 18.5 (11.4–71.5) years] and 5.1 ± 3.1 (1.1–12.3) years after repair were used to measure changes in LV mass, LV mass index, and diameters and lengths of the ascending thoracic aorta (ATA). Measurements were compared with similarly-aged control patients without aortic repair (21 M/21 F) evaluated at similar follow-ups. Results: LV mass and LV mass index of TEVAR patients increased from 138.5 ± 39.6 g and 72.35 ± 15.17 g/m2 to 173.5 ± 50.1 g and 85.48 ± 18.34 g/m2 at the rate of 10.03 ± 12.79 g/yr and 6.25 ± 10.28 g/m2/yr, whereas in control patients LV characteristics did not change. ATA diameters of TEVAR patients increased at a rate of 0.60 ± 0.80 mm/yr, which was 2.4-fold faster than in controls. ATA length in both TEVAR and control patients increased at 0.58 mm/yr. Half of TEVAR patients had hypertension at follow-up compared to only 5% at baseline. Conclusions: TEVAR is associated with LV mass increase, development of hypertension, and accelerated expansile remodeling of the ascending aorta. Although younger trauma patients may adapt to these effects, these changes may be even more important in older patients with other aortic pathologies and diminished baseline cardiac function.
Effects of a Comprehensive Reminder System Based on the Health Belief Model for Patients Who Have Had a Stroke on Health Behaviors, Blood Pressure, Disability, and Recurrence From Baseline to 6 Months: A Randomized Controlled Trial.

BACKGROUND The health behaviors and blood pressure control of patients with hypertension who have had a stroke are unsatisfactory. A protocol of a comprehensive reminder system has been published, and the results of 3 months of implementation have demonstrated improved patient health behaviors and blood pressure control. The continuity of the intervention effect on these variables after 3 months was not clear. OBJECTIVE The aim of this study was to determine the impact of a comprehensive reminder system intervention on health behaviors, medication adherence, blood pressure, disability, and stroke recurrence in patients with hypertension who have had a stroke from baseline to 6 months after discharge. METHOD A multicenter, assessor-blinded, randomized controlled trial was conducted with 174 patients with hypertension who have had a stroke. The intervention consisted of health belief education, a calendar handbook, weekly short message services, and telephone interviews. Data were collected at baseline and at 3 and 6 months after discharge. RESULTS Repeated-measures analysis of variance and single-effect analysis revealed that, compared with the control group, improvements of health behaviors, medication adherence, blood pressure, and disability of participants in the intervention group were superior. From 3 to 6 months after discharge, these trends remained or continually improved, whereas a downward trend was observed in the control group. There were only 2 stroke recurrences within 6 months, and no statistically significant difference between groups was found. CONCLUSION The comprehensive reminder system improved patients' health behaviors and medication adherence and reduced blood pressure and disability; the effect extended to 6 months after discharge.
Riociguat Improves Pulmonary Hemodynamics in Patients with Inoperable Chronic Thromboembolic Pulmonary Hypertension.

Background Few studies have investigated the effects of riociguat on pulmonary hemodynamics in Asian patients with chronic thromboembolic pulmonary hypertension (CTEPH). In this study, we evaluated the effects of riociguat on pulmonary hemodynamics in inoperable CTEPH patients. Methods We retrospectively collected the clinical data of 11 inoperable CTEPH patients. Pulmonary hemodynamic parameters of right heart catheterization, echocardiography, 6-minute walk distance and World Health Organization (WHO) functional class were assessed at baseline and after riociguat treatment. Results The median duration of riociguat treatment was 12 months, and all 11 patients tolerated riociguat 7.5 mg/day well after titration. With regards to pulmonary hemodynamic data, both mean pulmonary artery pressure and pulmonary vascular resistance significantly decreased from 41 ± 8 mmHg to 38 ± 9 mmHg (p = 0.045) and 787 ± 417 dyn·s·cm-5 to 478 ± 267 dyn·s·cm-5 (p = 0.007), respectively. With regards to clinical symptoms, WHO functional class significantly improved in nine of the 11 patients, and there was no change in the other two patients (p = 0.004). In addition, the median level of N-terminal pro-brain natriuretic peptide also significantly decreased from 281 (117-5943) pg/ml to 226 (48-1276) pg/ml (p = 0.021). Conclusions Riociguat treatment improved both clinical symptoms and pulmonary hemodynamics in the inoperative CTEPH patients in this study.
The Combination of Whey Protein and Dietary Fiber Does Not Alter Low-Grade Inflammation or Adipose Tissue Gene Expression in Adults with Abdominal Obesity.

BACKGROUND Abdominal obesity is characterized by low-grade inflammation and plays a central role in the development of type 2 diabetes and cardiovascular diseases. Dietary factors can influence low-grade inflammation and affect adipose tissue function. AIM To investigate the separate and combined effects of whey protein and cereal fiber on inflammatory markers and adipose tissue gene expression in abdominal obesity. METHODS We performed a 12-week, double-blind, randomized controlled dietary intervention in 65 adults with abdominal obesity. The participants were randomized to 4 groups using a 2 × 2 factorial design; they received either 60 g/day of whey protein or maltodextrin in combination with high-fiber wheat bran products (30 g fiber/day) or low-fiber refined wheat products (10 g fiber/day). Plasma concentrations of tumor necrosis factor α (TNF-α), high-sensitivity C-reactive protein (hs-CRP), monocyte chemoattractant protein-1 (MCP-1), interleukin 1 receptor antagonist (IL-1Ra), and adiponectin were measured before and after intervention. Changes in gene expression related to inflammation, insulin signaling, and lipid metabolism were measured in abdominal subcutaneous adipose tissue. RESULTS After intervention, TNF-α was reduced for both high-fiber groups compared with baseline, but did not significantly differ from the low-fiber groups. There were no differences in fasting or postprandial inflammatory markers between the groups. The relative gene expression of ribosomal protein S6 kinase B1 (S6K1) was increased after whey protein compared with maltodextrin consumption. CONCLUSION Intake of whey protein in combination with high cereal fiber content did not differentially affect low-grade inflammation or adipose tissue gene expression compared with maltodextrin and low fiber content in individuals with abdominal obesity.
Persistent alterations in cerebrovascular reactivity in response to hypercapnia following pediatric mild traumatic brain injury

Much attention has been paid to the effects of mild traumatic brain injury (mTBI) on cerebrovascular reactivity in adult populations, yet it remains understudied in pediatric injury. In this study, 30 adolescents (12–18 years old) with pediatric mTBI (pmTBI) and 35 age- and sex-matched healthy controls (HC) underwent clinical and neuroimaging assessments during sub-acute (6.9 ± 2.2 days) and early chronic (120.4 ± 11.7 days) phases of injury. Relative to controls, pmTBI reported greater initial post-concussion symptoms, headache, pain, and anxiety, resolving by four months post-injury. Patients reported increased sleep issues and exhibited deficits in processing speed and attention across both visits. In grey-white matter interface areas throughout the brain, pmTBI displayed increased maximal fit/amplitude of a time-shifted end-tidal CO2 regressor to blood oxygen-level dependent response relative to HC, as well as increased latency to maximal fit. The alterations persisted through the early chronic phase of injury, with maximal fit being associated with complaints of ongoing sleep disturbances during post hoc analyses but not cognitive measures of processing speed or attention. Collectively, these findings suggest that deficits in the speed and degree of cerebrovascular reactivity may persist longer than current conceptualizations about clinical recovery within 30 days.
Recapitulation of Neuropsychiatric Behavioral Features in Mice Using Acute Low-dose MK-801 Administration

Despite some innate limitations, animal models are a potent investigative tool when used to model specific symptoms of a disorder. For example, MK-801, an N-methyl-D-aspartate receptor antagonist, is used as a pharmacological tool to induce symptoms found in some neuropsychiatric disorders. However, a close examination of literature suggests that the application window of MK-801 doses is relatively narrow between individual behavioral paradigms, necessitating careful characterization of the evoked behavioral aberrations and the doses used to induce them. Moreover, variation in behaviors depending on the animal strain, gender of the subject, and the timing of administration is observed, making it difficult to compare the behavioral characteristics reported in different studies. We aim to characterize the behavioral aberrations induced by different doses of MK-801 in CD-1 mice and create a ready reference for future studies. We used CD-1 mice to recapitulate behavioral impairments resulting from acute administration of MK-801. In 0.1 mg kg−1, we observed diminished spontaneous alteration during the Y-maze test, while 0.12 mg kg−1 resulted in hyperlocomotion and social deficit. Mice treated with 0.2 and 0.3 mg kg−1 of MK-801 demonstrated a decreased self-grooming. Finally, all doses significantly impaired cliff avoidance behaviors suggesting increased impulsivity. These results affirm that MK-801 can effectively model various symptoms of different neuropsychiatric disorders in a dose-dependent manner. The observed sensitivity against spatial-memory impairment and impulsive behaviors at low concentration of MK-801 suggest that MK801 may modulate cognitive function and impulsivity in even lower concentration before it can modulate other behavioral domains.