Miracle-dz/UniFAR-FTUs huggingface dataset:
Environmental risk factors for REM sleep behavior disorder

Objective: Idiopathic REM sleep behavior disorder is a parasomnia characterized by dream enactment and is commonly a prediagnostic sign of parkinsonism and dementia. Since risk factors have not been defined, we initiated a multicenter case-control study to assess environmental and lifestyle risk factors for REM sleep behavior disorder. Methods: Cases were patients with idiopathic REM sleep behavior disorder who were free of dementia and parkinsonism, recruited from 13 International REM Sleep Behavior Disorder Study Group centers. Controls were matched according to age and sex. Potential environmental and lifestyle risk factors were assessed via standardized questionnaire. Unconditional logistic regression adjusting for age, sex, and center was conducted to investigate the environmental factors. Results: A total of 694 participants (347 patients, 347 controls) were recruited. Among cases, mean age was 67.7 ± 9.6 years and 81.0% were male. Cases were more likely to smoke (ever smokers = 64.0% vs 55.5%, adjusted odds ratio [OR] = 1.43, p = 0.028). Caffeine and alcohol use were not different between cases and controls. Cases were more likely to report previous head injury (19.3% vs 12.7%, OR = 1.59, p = 0.037). Cases had fewer years of formal schooling (11.1 ± 4.4 years vs 12.7 ± 4.3, p < 0.001), and were more likely to report having worked as farmers (19.7% vs 12.5% OR = 1.67, p = 0.022) with borderline increase in welding (17.8% vs 12.1%, OR = 1.53, p = 0.063). Previous occupational pesticide exposure was more prevalent in cases than controls (11.8% vs 6.1%, OR = 2.16, p = 0.008). Conclusions: Smoking, head injury, pesticide exposure, and farming are potential risk factors for idiopathic REM sleep behavior disorder.
Pathogenesis and management of iron toxicity in thalassemia

In thalassemia major, iron overload is the joint outcome of multiple blood transfusions and an inappropriately increased iron absorption associated with ineffective erythropoiesis. Threshold values for iron toxicity are a liver iron concentration exceeding 440 mmoles/g dry weight, serum ferritin >2500 ng/mL, DFO urinary iron excretion >20 mg/day, and transferrin saturation >75%. The outpouring of catabolic iron that exceeds the iron‐carrying capacity of transferrin results in the emergence of non‐transferrin‐bound iron (NTBI). NTBI is cleared preferentially by the liver and myocardium at a rate exceeding 200 times that of transferrin iron. NTBI catalyzes the formation of free radicals, resulting in oxidative stress and damage to mitochondria, lysosomes, lipid membranes, proteins, and DNA. The long‐term consequences of iron toxicity, including cirrhosis, myocardiopathy, and endocrine disorders, are preventable and mostly reversible by effective iron chelation therapy. Recent technologic advances in the documentation of organ‐specific siderosis and the improved efficiency of iron chelating programs resulted in a spectacular improvement in the prevention of iron‐induced end‐organ failure and improved survival in thalassemic patients.
Cervical assessment in women with threatened preterm labor

Objective. The aim of the study was to examine the clinical value of cervical assessment by transvaginal ultrasonography in women with symptoms of preterm labor. Methods. We prospectively evaluated 172 women with singleton pregnancies and symptoms of preterm labor. Seventy of them were nulliparas, while 102 were multiparas. Gestational age ranged between 24 and 34 wks. All women underwent cervical assessment with transvaginal ultrasonography and were given intravenous tocolytics. The only parameter evaluated was cervical length. Women with multiple pregnancies, gestational age < 24 wks or > 34 wks, cervical dilatation > 2 cm, placenta praevia, premature rupture of membranes, or cervical cerclage were excluded from the study. The outcome measure was delivery before 34 wks gestation. Results. The preterm delivery rate before 34 wks was 37%. The sensitivity and the specificity of a cervical length of less than 20 mm was 60 and 53.8% and 97.7 and 95.2% for nulliparas and multiparas, respectively. A cervical length < 20 mm was also 93.7% predictive of preterm delivery in nulliparas and 87.5% in multiparas, while the corresponding numbers for its negative predictive value (NPV) were 81.4 and 76.9%, respectively. Conclusions. Cervical assessment in women with symptoms of preterm labor can distinguish those at high risk for preterm delivery. Cervical sonography can be a valuable adjunct to the clinical evaluation of these patients.
MRI and surgical findings in deltoid ligament tears.

OBJECTIVE The objectives of our study were to determine the accuracy of new MRI criteria in detecting tears of the superficial deltoid ligament of the ankle, the accuracy of established criteria for detecting deep deltoid ligament tears, the most common location of super-ficial deltoid ligament tears, and the frequency of other injuries associated with deltoid tears. MATERIALS AND METHODS A chart review yielded 89 cases over a 3-year interval in which ankle MRI was followed by open or arthroscopic surgery and the surgical report described findings in the deltoid ligament. One case was excluded because the MRI study was technically inadequate. MRI and surgical reports were then compared for the presence and location of deltoid ligament tears. RESULTS MRI findings of focal detachment of the superficial deltoid origin or detachment of the fascial sleeve of the medial malleolus yielded a sensitivity for superficial deltoid ligament tears of 83.3% (45/54) and specificity of 93.9% (31/33). Eight of nine prospectively missed tears were visible on retrospective review. All superficial deltoid tears involved the origin of the ligament from the medial malleolus, and six involved mid or distal bundles of the superficial deltoid as well. MRI findings of discontinuity or nonvisualization of discrete fibers yielded a sensitivity for deep deltoid ligament tears of 96.3% (26/27) and specificity of 97.9% (46/47). CONCLUSION MRI has a high accuracy for deltoid ligament tears in consecutive cases prospectively evaluated by musculoskeletal radiologists. The location of superficial deltoid ligament tears differed in our series from findings previously reported in the imaging literature.
Specific recycling receptors are targeted to the immune synapse by the intraflagellar transport system

ABSTRACT T cell activation requires sustained signaling at the immune synapse, a specialized interface with the antigen-presenting cell (APC) that assembles following T cell antigen receptor (TCR) engagement by major histocompatibility complex (MHC)-bound peptide. Central to sustained signaling is the continuous recruitment of TCRs to the immune synapse. These TCRs are partly mobilized from an endosomal pool by polarized recycling. We have identified IFT20, a component of the intraflagellar transport (IFT) system that controls ciliogenesis, as a central regulator of TCR recycling to the immune synapse. Here, we have investigated the interplay of IFT20 with the Rab GTPase network that controls recycling. We found that IFT20 forms a complex with Rab5 and the TCR on early endosomes. IFT20 knockdown (IFT20KD) resulted in a block in the recycling pathway, leading to a build-up of recycling TCRs in Rab5+ endosomes. Recycling of the transferrin receptor (TfR), but not of CXCR4, was disrupted by IFT20 deficiency. The IFT components IFT52 and IFT57 were found to act together with IFT20 to regulate TCR and TfR recycling. The results provide novel insights into the mechanisms that control TCR recycling and immune synapse assembly, and underscore the trafficking-related function of the IFT system beyond ciliogenesis.
Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C

We describe a case of severe infantile‐onset complex I deficiency in association with an apparent de novo near‐homoplasmic mutation (m.14487T>C) in the mitochondrial ND6 gene, which was previously associated with Leigh syndrome and other neurological disorders. The mutation was near‐homoplasmic in muscle by NextGen sequencing (99.4% mutant), homoplasmic in muscle by Sanger sequencing, and it was associated with a severe complex I deficiency in both muscle and fibroblasts. This supports previous data regarding Leigh syndrome being on the severe end of a phenotypic spectrum including progressive myoclonic epilepsy, childhood‐onset dystonia, bilateral striatal necrosis, and optic atrophy, depending on the proportion of mutant heteroplasmy. While the mother in all previously reported cases was heteroplasmic, the mother and brother of this case were homoplasmic for the wild‐type, m.14487T. Importantly, the current data demonstrate the potential for cases of mutations that were previously reported to be homoplasmic by Sanger sequencing to be less homoplasmic by NextGen sequencing. This case underscores the importance of considering mitochondrial DNA mutations in families with a negative family history, even in offspring of those who have tested negative for a specific mtDNA mutation. © 2013 Wiley Periodicals, Inc.
Identification of Local Phase of Nanoscale BaTiO3 Powders by High-Resolution Electron Energy Loss Spectroscopy

Abstract The electron energy loss spectroscopy (EELS) technique was applied to investigate the local variation in the phase of barium titanate (BaTiO3) ceramics. It was found that the fine structure of the titanium L2,3 edge and their satellite peaks were sensitively varied with the tetragonal–cubic phase transition. The peak splitting of Ti-L3 edge of tetragonal-phased BaTiO3 ceramics was widened because of the increased crystal field effect compared with that of cubic-phased BaTiO3. In case of nanoscale BaTiO3 powders, the L3 edge splitting of the core region was found to be smaller than that of the shell region. The energy gap between peaks t2g and eg varied from 2.36 to 1.94 eV with changing the probe position from 1 to 20 nm from the surface. These results suggest that the EELS technique can be used to identify the local phase of sintered BaTiO3 ceramics.
Antibiotics for acute pyelonephritis in children.

BACKGROUND Urinary tract infection (UTI) is one of the most common bacterial infection in infants. The most severe form of UTI is acute pyelonephritis, which results in significant acute morbidity and may cause permanent renal damage. Published guidelines recommend treatment of acute pyelonephritis initially with intravenous (IV) therapy followed by oral therapy for 7-14 days though there is no consensus on the duration of either IV or oral therapy. OBJECTIVES To determine the benefits and harms of different antibiotic regimens for the treatment of acute pyelonephritis in children. SEARCH STRATEGY We searched the Cochrane Register of Controlled Trials (Cochrane Library Issue 3, 2002), MEDLINE (1966 - September 2002), EMBASE (1988 -September 2002), reference lists of articles and abstracts from conference proceedings without language restriction. SELECTION CRITERIA Randomised and quasi-randomised controlled trials comparing different antibiotic agents, routes, frequencies or durations of therapy in children aged 0-18 years with proven UTI and acute pyelonephritis were selected. DATA COLLECTION AND ANALYSIS Two reviewers independently assessed trial quality and extracted data. Statistical analyses were performed using the random effects model and the results expressed as relative risk (RR) for dichotomous outcomes or weight mean difference (WMD) for continuous data with 95% confidence intervals (CI). MAIN RESULTS Sixteen trials involving 1872 children were eligible for inclusion. No significant differences were found in persistent renal damage at six months (one trial, 306 infants: RR 1.45, 95% CI 0.69 to 3.03) or in duration of fever (WMD 0.80, 95% CI -4.41 to - 6.01) between oral cefixime therapy (14 days) and IV therapy (three days) followed by oral therapy (10 days). Similarly no significant differences in persistent renal damage (three trials, 315 children: RR 0.99, 95% CI 0.72 to 1.37) were found between IV therapy (3-4 days) followed by oral therapy and IV therapy for 7-14 days. In addition no significant differences in efficacy were found between daily and thrice daily administration of aminoglycosides (one trial, 179 children, persistent symptoms at three days: RR 1.98, 95% CI 0.37 to 10.53). REVIEWER'S CONCLUSIONS These results suggest that children with acute pyelonephritis can be treated effectively with oral cefixime or with short courses (2-4 days) of IV therapy followed by oral therapy. If IV therapy is chosen, single daily dosing with aminoglycosides is safe and effective. Trials are required to determine the optimal total duration of therapy and if other oral antibiotics can be used in the initial treatment of acute pyelonephritis.
Medical Reasons Behind Player Departures From Male and Female Professional Tennis Competitions

Background: The number of retirements, withdrawals, and “lucky losers” (the replacement of a player who withdraws before the start of the tournament by a losing player from the qualifying round) from professional tennis tournaments has increased, but the reasons behind such departures have not yet been analyzed. An official consensus statement has been conducted to allow a general categorization of injuries in tennis. Purpose: To determine the reasons for departure and injury rates in professional tennis. Study Design: Descriptive epidemiology study. Methods: All reasons for departures were collected from official Association of Tennis Professionals (ATP) and Women’s Tennis Association (WTA) web pages. All tournaments apart from the 4 major competitions (the Australian Open, French Open, Wimbledon, and US Open) were included for the period 2001-2012 for men and women. Personal data, tournament information, surface, match setting, date, and reason were obtained for each departure scenario. Results: Variations in departure and injury rates were seen throughout the season. Women left and were injured significantly more than men. Women mainly left because of thigh injuries, whereas men left mainly because of back injuries. Playing surface only had an influence on the risk of lower back injuries. Only women’s departures were affected by the tournament round. Conclusion: A high number of departures from tournaments have occurred during the past 10 years on the ATP and WTA circuits. Injuries were the main reasons of these departures, regardless of the type of departure and player sex. The back and thigh were the main locations of injuries for men and women, respectively.
Effect of volume loading with 1 liter intravenous infusions of 0.9% saline, 4% succinylated gelatine (Gelofusine) and 6% hydroxyethyl starch (Voluven) on blood volume and endocrine responses: A randomized, three-way crossover study in healthy volunteers

Objective: To study the changes in blood volume and hormones controlling sodium and water homeostasis after infusions of 0.9% saline, Gelofusine (4% succinylated gelatin in 0.7% saline, weight-average molecular weight 30 kD), and Voluven (6% hydroxyethyl starch in 0.9% saline, weight-average molecular weight 130 kD) in healthy volunteers. Design: Randomized, three-way crossover study. Setting: University teaching hospital. Subjects: Ten healthy adult male volunteers. Interventions: Volunteers received 1-L infusions of 0.9% saline, Gelofusine, and Voluven over 1 hr on three occasions. Body weight, hematocrit, serum biochemistry, and plasma concentrations of vasopressin, aldosterone, brain natriuretic peptide, and total renin were measured before infusion and hourly thereafter for 6 hrs. Changes in body water, blood volume, and extravascular fluid volume were calculated. Measurements and Main Results: Although changes in body weight (total body water) after the infusions were similar, blood volume expansion by the two colloids was significantly greater than that produced by 0.9% saline (p < .01). At the end of infusions, 68%, 21%, and 16% of the infused volumes of 0.9% saline, Gelofusine, and Voluven, respectively, had escaped from the intravascular space to the extravascular space. Over the 6 hrs, the magnitude and duration of blood volume expansion by the two colloids were similar (p = .70). There were no significant differences in urinary volume, osmolality, and sodium content after the three infusions. Hormonal changes were similar after the three infusions, with the increase in natriuretic peptide being transient. The reduction in aldosterone and total renin concentrations was more sustained. Conclusions: The effects of Gelofusine and Voluven were similar despite the 100 kD difference in weight-average molecular weight. Excretion of an acute fluid load containing sodium and chloride may be dependent on a sustained suppression of the renin-angiotensin-aldosterone system rather than on natriuretic peptides.
No evidence for contraindications to the use of propofol in adults allergic to egg, soy or peanut†.

BACKGROUND Propofol is thought to be a potential cause of allergic reactions in patients allergic to egg, soy or peanut, since current formulations contain an emulsion that includes egg lecithin and soybean oil. However, other than six case reports lacking in confirmatory evidence of an allergic reaction, there is no evidence linking the two types of allergies. The aim of this study was to examine the frequency of propofol allergy and to investigate if patients with specific immunoglobulin E (IgE) to egg, soy or peanut tolerated propofol. METHODS Study A examined the frequency of propofol allergy in 273 patients systematically investigated for suspected perioperative allergic reactions. Of these, 153 had been exposed to propofol and underwent skin tests and intravenous provocation. Study B retrospectively investigated propofol exposure and tolerance in 520 adult patients with a positive specific IgE to egg, soy or peanut. RESULTS Four of the 153 propofol-exposed patients (2.6%) investigated in study A were diagnosed with propofol allergy. Of these, three tested positive only on intravenous provocation. None of the four had allergic symptoms when eating egg, soy or peanut and none had detectable levels of specific IgE to egg or soy in their serum. In study B we found no signs of allergic reactions towards propofol in 171 retrieved anaesthetic charts from 99 patients with specific IgE to egg, soy or peanut. CONCLUSION No connection between allergy to propofol and allergy to egg, soy or peanut was found. The present practice of choosing alternatives to propofol in patients with this kind of food allergy is not evidence based and should be reconsidered.
Early Divergence of Fcε Receptor I Signals for Receptor Up-Regulation and Internalization from Degranulation, Cytokine Production, and Survival1

Mast cells play a critical role in IgE-dependent immediate hypersensitivity. Monomeric IgE binding to its high affinity receptor (FcεRI) results in a number of biological outcomes in mouse mast cells, including increased surface expression of FcεRI and enhanced survival. IgE molecules display heterogeneity in inducing cytokine production; highly cytokinergic IgEs cause extensive FcεRI aggregation, leading to potent enhancement of survival and other activation events, whereas poorly cytokinergic IgEs can do so less efficiently. In this study, we demonstrate that IgE-induced receptor up-regulation is not sensitive to monovalent hapten, which can prevent receptor aggregation induced by IgE, whereas other activation events such as receptor internalization, degranulation, IL-6 production, and survival are sensitive to monovalent hapten. IgE-induced receptor up-regulation is also unique in that no Src family kinases, Syk, or Btk are required for it. By contrast, highly cytokinergic IgE-induced receptor internalization is dependent on Lyn, but not other Src family kinases, Syk, or Btk, whereas degranulation, IL-6 production, and survival require Syk. Weak to moderate stimulation with IgE plus anti-IgE or IgE plus Ag enhances survival, while stronger signals are required for degranulation and IL-6 production. Collectively, signals emanated from IgE-bound FcεRI for receptor up-regulation and internalization are shown to diverge at the receptor or receptor-proximal levels from those for other biological outcomes.
The Genetic Basis of the Pierre Robin Sequence

Objective The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS. Design After searching Medline for “pierre robin and genetics,” the Mendelian Cytogenetics Network database for “robin” and “pierre robin,” and two reviews from the Human Cytogenetics Database for “cleft palate” and “micrognathia,” a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes. Results The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance. Conclusion Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS.
Colonization of potato fields in eastern North Carolina by Colorado potato beetle

Rotated and non‐rotated commercial potato fields were sampled intensively to follow Colorado potato beetle, Leptinotarsa decemlineata (Say) (Coleoptera: Chrysomelidae), colonization and subsequent oviposition patterns in the spring of 1990 and 1991. Maximum densities of colonizing adults ranged from 0 to 14,891/ha and maximum egg mass densities ranged from 0 to 48,451/ha. Crop rotation generally resulted in lower potato beetle populations. Regardless of crop rotation management practices, colonization of fields planted in potatoes began at field edges and progressed inward in all fields for both years. Management of potato beetles is discussed in light of these findings.
Weakening of Corticomuscular Signal Coupling During Voluntary Motor Action in Aging.

BACKGROUND Aging is associated with muscle weakness and impairment in performing skilled motor tasks. Still, little is known about whether the link or functional coupling or connection between the central and peripheral systems during voluntary motor performance is compromised in the elderly subjects. The purposes of this study were to estimate functional corticomuscular connection (CMC) strength in the elderly subjects by calculating EEG-EMG coherence during voluntary motor performance, determine the relationship between the CMC and voluntary muscle force, and compare these between the old and the young subjects. METHODS Maximal voluntary contraction (MVC) of elbow flexion (EF) and EFs at three submaximal (20%, 50%, and 80% MVC) levels were performed in 28 healthy older (74.96±1.32 years) and 20 young (22.60±0.90 years) individuals, while EEG and EMG from biceps brachii, brachioradialis, and triceps brachii muscles were recorded simultaneously. RESULTS Compared with the young, older individuals exhibited significantly weakened CMC at all force levels tested. There was a proportional relationship between the CMC and EF force and high-positive correlation between the CMC and EF strength in both groups. CONCLUSIONS Weakened CMC in aging may be a major factor contributing to age-related muscle weakness, and the linear relationship between the CMC and voluntary muscle force suggests dependence of force output on translation of the descending command to muscle electrical signal.