Miracle-dz/UniFAR-FTUs huggingface dataset:
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

X-linked mental retardation (XLMR) has a prevalence of 2.6 cases per 1000 population, accounting for over 10% of all cases of mental retardation. Clinically, XLMR exists in syndromic (MRXS) and non-syndromic (MRX) forms, that is without other distinguishing features. Non-syndromic X-linked mental retardation (MRX) is a highly heterogeneous group of conditions in which mental retardation (MR) is the only consistent clinical feature in patients. This in contrast to syndromic forms of X-linked mental retardation (MRXS), where MR is associated with recognisable clinical signs such as congenital malformations, neurological features, or metabolic disturbances. Identifying novel genes that are responsible for MRX is difficult due to the heterogeneity of this disorder. At present 30 genes have been identified as playing a role in MRXS. However in MRX, only 15 genes are known to be involved accounting for less than one-fifth of all MRX.1–6 The recent observations that RSK2, MECP2 , and ARX play a role in both syndromic and non-syndromic forms of XLMR,7–10 suggest that a molecular basis to strictly separate these two forms is not always present. In addition, careful clinical re-examination of patients with an OPHN1 gene mutation has revealed distinctive phenotypic hallmarks, such as cerebellar hypoplasia, in patients who were previously classified as non-syndromic.11,12 The frequency of causative mutations in any of the 15 MRX genes known today appears to be very low, so in the majority of patients with MRX the genetic cause is still not known. It has been suggested that up to 100 different genes might be involved in MRX.1–4 Seven of the 15 genes have been cloned on the basis of their disruption by chromosomal rearrangements in mentally retarded patients. Recently, it has been predicted that approximately 30% of all mutations underlying MRX are located in the …
The Political Economy of Agricultural Policies in Africa: History, Analytical Concepts and Implications for Development Cooperation

50 years since independence, agriculture remains a key driver for economic growth, rural development and poverty reduction in many African countries. Yet, the sector has suffered from market and policy failures and has largely failed to fulfil its potential. Why do agricultural policies seem to have failed in seizing development opportunities? This paper argues that this is partly due to the fact that the legacy of political economy of agricultural policy reforms in Africa was inadequately considered. After decades of research, the political economy of agricultural policy making in Africa still seems to puzzle academics and practitioners alike. This paper discusses the evolution of the specific political economy in agricultural policy reforms from a historic perspective, and why political economy issues are (still) key problems in rural development. Even though political economy has been analysed from different economic and social science angles, the respective results have rarely been synthesised and put into practical use. The author argues that a lot can be gained by addressing the political economy in African agriculture in a more inter-disciplinary way and she provides lessons learned for both development research and development cooperation.
Blunt traumatic occult pneumothorax: is observation safe?--results of a prospective, AAST multicenter study.

BACKGROUND An occult pneumothorax (OPTX) is found incidentally in 2% to 10% of all blunt trauma patients. Indications for intervention remain controversial. We sought to determine which factors predicted failed observation in blunt trauma patients. METHODS A prospective, observational, multicenter study was undertaken to identify patients with OPTX. Successfully observed patients and patients who failed observation were compared. Multivariate logistic regression was used to identify predictors of failure of observation. OPTX size was calculated by measuring the largest air collection along a line perpendicular from the chest wall to the lung or mediastinum. RESULTS Sixteen trauma centers identified 588 OPTXs in 569 blunt trauma patients. One hundred twenty-one patients (21%) underwent immediate tube thoracostomy and 448 (79%) were observed. Twenty-seven patients (6%) failed observation and required tube thoracostomy for OPTX progression, respiratory distress, or subsequent hemothorax. Fourteen percent (10 of 73) failed observation during positive pressure ventilation. Hospital and intensive care unit lengths of stay, and ventilator days were longer in the failed observation group. OPTX progression and respiratory distress were significant predictors of failed observation. Most patient deaths were from traumatic brain injury. Fifteen percentage of patients in the failed observation group developed complications. No patient who failed observation developed a tension PTX, or experienced adverse events by delaying tube thoracostomy. CONCLUSION Most blunt trauma patients with OPTX can be carefully monitored without tube thoracostomy; however, OPTX progression and respiratory distress are independently associated with observation failure.
Data‐driven projection method in fluid simulation

Physically based fluid simulation requires much time in numerical calculation to solve Navier–Stokes equations. Especially in grid‐based fluid simulation, because of iterative computation, the projection step is much more time‐consuming than other steps. In this paper, we propose a novel data‐driven projection method using an artificial neural network to avoid iterative computation. Once the grid resolution is decided, our data‐driven method could obtain projection results in relatively constant time per grid cell, which is independent of scene complexity. Experimental results demonstrated that our data‐driven method drastically speeded up the computation in the projection step. With the growth of grid resolution, the speed‐up would increase strikingly. In addition, our method is still applicable in different fluid scenes with some alterations, when computational cost is more important than physical accuracy. Copyright © 2016 John Wiley & Sons, Ltd.
Describing a Folic Acid Intervention for Health Care Providers: Implications for Professional Practice and Continuing Education

The purpose of this article is to, first, describe the content of a folic acid professional education intervention that was developed and implemented as a result of a collaborative effort between an academic institution and a nonprofit organization—the Pittsburgh, Pennsylvania, chapter of the March of Dimes—and the process by which it was developed; second, report the results of an evaluation of the impact of this intervention on knowledge and recommendation behaviors of health care providers; and third, discuss the implications for professional practice and continuing education. We developed a novel presentation that had practical utility for practitioners that could be implemented in either a classroom or continuing education setting.
Venereal shedding of equid herpesvirus-1 (EHV-1) in naturally infected stallions.

BACKGROUND Equid herpesvirus 1 (EHV-1) is a highly prevalent pathogen in horse populations worldwide. Oronasal infection represents the classic route of disease transmission. Venereal shedding of EHV-1 is not regarded relevant in terms of virus spreading, which is in contrast to the close relatives of EHV-1, bovine and suid alphaherpesvirus, for which artificial insemination is a well-documented and accepted means of virus spread. OBJECTIVES Documentation of venereal EHV-1 shedding in 3 naturally infected stallions. ANIMALS Three stallions were infected during an acute outbreak by an EHV-1 strain with the G(2254) /D(752) Pol genotype. METHODS In this observational study, 12 semen samples from these 3 stallions were tested for EHV-1 to determine venereal shedding. EHV-1 was diagnosed by conventional PCR and paired serum neutralization tests in 42 horses. Semen samples were separated into sperm and seminal plasma fractions and tested for EHV-1 by conventional and quantitative PCR as well as virus isolation by cell culture. RESULTS Acute EHV-1 infection was diagnosed on the premise. Five semen samples collected from 2 of the 3 stallions tested positive for EHV-1 by (q)PCR. On days 18 and 20 after onset of fever, the last positive samples were retrieved. All samples were positive in seminal plasma, only three in sperm fraction. Virus isolation attempts were unsuccessful. CONCLUSIONS AND CLINICAL IMPORTANCE The data presented here document shedding of EHV-1 in semen of naturally infected stallions for close to 3 weeks, which seems not to be directly associated with spermatozoa.
A unique practice model for Nurse Practitioners in long-term care homes.

AIM This paper is a report of a study examining a practice model for Nurse Practitioners (NPs) working in long-term care (LTC) homes and its impact on staff confidence, preventing hospital admission, and promoting early hospital discharge. BACKGROUND The recent introduction of NPs in LTC homes in Ontario, Canada, provided an opportunity to explore unique practice models. In a pilot project, two full-time equivalent NPs provided primary care to a consortium of 22 homes serving approximately 2900 residents. The practice model was based on the specific needs of the homes and residents. METHODS The NPs working in this project prospectively collected data (from July 2003 until June 2004) on their clinical activities and resident outcomes. Directors of Care (n = 18) of the participating homes completed a questionnaire (March 2004) assessing the impact on prevention of hospitalization and staff confidence. FINDINGS The NPs had 2315 clinical contacts in the 1-year period; the majority (64%) were follow-up contacts. Many contacts were for uncomplicated medical problems or more complex but straightforward medical issues, and had positive outcomes. Hospital admission was prevented in 39-43% of cases. NPs had a positive impact on improving staff confidence, but no impact on facilitating early discharge from hospital. CONCLUSION Practice models designed to meet the distinctive needs of LTC homes and residents can enhance quality of care, even with low NP:resident ratios. Participation of key stakeholders in the identification of care priorities and planning contributed to the success of this model.
Opportunity missed: medical consultation, resource use, and quality of care of patients undergoing major surgery.

BACKGROUND There is growing interest in collaborative management of surgical patients. However, few data describe how medical consultation influences quality of care or resource use. The objective of this study was to determine whether medical consultation improves care in surgical patients. METHODS Observational cohort of patients undergoing surgery between May 1, 2004, and May 31, 2006, at a university-based hospital. The outcomes included costs, hospital length of stay, use of preventive therapies (such as perioperative beta-blockers) and clinical outcomes. RESULTS Of 1,282 patients, 117 (9.1%) underwent a perioperative medical consultation. Consulted patients were of a similar age, sex, and race, but more frequently had an American Society of Anesthesiologists score of 4 or higher (34.2% vs 13.0%; P < .001), diabetes mellitus (29.1% vs 16.1%; P < .001), vascular disease (35.0% vs 10.6%; P < .01), or chronic renal failure (23.9% vs 5.6%; P < .001). After adjusting for severity of illness and likelihood of receiving a consultation, patients were just as likely to have a serum glucose level of less than 200 mg/dL (<11.1 mmol/L), receive perioperative beta-blockers, or receive venous thromboembolism prophylaxis. Consulted patients had a longer adjusted length of stay (12.98% longer; 95% confidence interval, 1.61%-25.61%) and higher adjusted costs (24.36% higher; 95% confidence interval, 13.54%-36.34%). Patients who had a consultation from a generalist did not receive different quality of care, but had costs and length of stay similar to nonconsulted patients. Our results may be influenced by unaccounted referral bias or severity of illness. CONCLUSIONS Perioperative internal medicine consultation produces inconsistent effects on efficiency and quality of care in surgical patients. Modifying the consultative model may represent an opportunity to improve care.
THE SPITZER INFRARED NEARBY GALAXIES SURVEY: A HIGH-RESOLUTION SPECTROSCOPY ANTHOLOGY

High-resolution mid-infrared spectra are presented for 155 nuclear and extranuclear regions from the Spitzer Infrared Nearby Galaxies Survey (SINGS). The fluxes for nine atomic forbidden and three molecular hydrogen mid-infrared emission lines are also provided, along with upper limits in key lines for infrared-faint targets. The SINGS sample shows a wide range in the ratio of [S iii] 18.71 μm/[S iii] 33.48 μm, but the average ratio of the ensemble indicates a typical interstellar electron density of 300–400 cm−3 on ∼23″ × 15″ scales and 500–600 cm−3 using ∼11″ × 9″ apertures, independent of whether the region probed is a star-forming nuclear, a star-forming extranuclear, or an active galactic nuclei (AGN) environment. Evidence is provided that variations in gas-phase metallicity play an important role in driving variations in radiation field hardness, as indicated by [Ne iii] 15.56 μm/[Ne ii] 12.81 μm, for regions powered by star formation. Conversely, the radiation hardness for galaxy nuclei powered by accretion around a massive black hole is independent of metal abundance. Furthermore, for metal-rich environments AGN are distinguishable from star-forming regions by significantly larger [Ne iii] 15.56 μm/[Ne ii] 12.81 μm ratios. Finally, [Fe ii] 25.99 μm/[Ne ii] 12.81 μm versus [Si ii] 34.82 μm/[S iii] 33.48 μm also provides an empirical method for discerning AGN from normal star-forming sources. However, similar to [Ne iii] 15.56 μm/[Ne ii] 12.81 μm, these mid-infrared line ratios lose their AGN/star-formation diagnostic powers for very low metallicity star-forming systems with hard radiation fields.
Combretum lanceolatum flowers ethanol extract inhibits hepatic gluconeogenesis: an in vivo mechanism study

Abstract Context Ethnopharmacological studies have demonstrated that plants of the Combretum genus presented antidiabetic activity, including Combretum lanceolatum Pohl ex Eichler (Combretaceae). Objective This study investigated the hepatic mechanisms of action of C. lanceolatum flowers ethanol extract (ClEtOH) related to its antihyperglycaemic effect in streptozotocin-diabetic rats. Materials and methods Male Wistar rats were divided into normal (N) and diabetic control (DC) rats treated with vehicle (water); diabetic rats treated with 500 mg/kg metformin (DMet) or 500 mg/kg ClEtOH (DT500). After 21 d of treatment, hepatic glucose and urea production were investigated through in situ perfused liver with l-glutamine. Changes in the phosphoenolpyruvate carboxykinase (PEPCK) levels and in the activation of adenosine monophosphate-activated protein kinase (AMPK) and insulin-signalling intermediates were also investigated. Results Similar to DMet, DT500 rats showed a reduction in the rates of hepatic production of glucose (46%) and urea (22%) in comparison with DC. This reduction was accompanied by a reduction in the PEPCK levels in liver of DT500 (28%) and DMet (43%) when compared with DC. AMPK phosphorylation levels were higher in the liver of DT500 (17%) and DMet (16%) rats. The basal AKT phosphorylation levels were increased in liver of DT500 rats, without differences in the insulin-stimulated AKT phosphorylation and in the insulin receptor levels between DC and DT500 rats. Discussion and conclusion The antidiabetic activity of ClEtOH can be attributed, at least in part, to inhibition of hepatic gluconeogenesis, probably due to the activation of both AMPK and AKT effectors and reduction in the PEPCK levels.
Context-Specific Function of S6K2 in Th Cell Differentiation

The mammalian target of rapamycin (mTOR) is essential for Th cell proliferation and effector differentiation, making the mTOR signaling network an attractive immunomodulatory target for autoimmune-related diseases. Although direct targeting of mTOR complex-1 (mTORC1) with rapamycin can provide clinical benefit, targeting downstream enzymes has the potential to offer more selective immunosuppression. In this study, we evaluated p70 ribosomal protein S6 Kinase 2 (S6K2), a downstream effector of mTORC1, for its role in T cell function and autoimmunity. S6K2 is a direct substrate of mTORC1, with a potential role in Th17 differentiation suggested by biochemical studies. Using a genetic approach with S6K2 knockout mice, we found that S6K2 loss reduces Th17 skewing and increases regulatory T cell differentiation in vitro when cultured in RPMI 1640 media. However, S6K2 was dispensable for Th17 differentiation in IMDM. In an in vivo experimental autoimmune encephalomyelitis model in which rapamycin suppresses disease, S6K2 knockout mice did not exhibit differences in clinical score or Th17 differentiation. These results suggest that S6K2 is dispensable for Th17-driven autoimmunity and highlight how distinct experimental conditions can produce significantly different results in T cell differentiation.
HIV Test Uptake and Sexual Risk Behaviour Assessment among Patients with Pulmonary Tuberculosis in A Resource-Limited Setting

HIV testing among patients with tuberculosis is critical to preventing missed diagnosis of HIV, improving morbidity and mortality and ensuring continuum of care for HIV-TB co-infected patients. The objective was to determine the HIV test uptake and assess sexual risk behaviour among patients with pulmonary tuberculosis attending DOTS clinic in a tertiary hospital in Nigeria. The study also determined the HIV sero-prevalence and evaluated the HIV-TB coinfection pattern among these patients. HIVTestUptakeandSexualRiskBehaviourAssessmentamong PatientswithPulmonaryTuberculosisinAResource-LimitedSetting Strictly as per the compliance and regulations of:
Basic fibroblast growth factor expression in human omental microvascular endothelial cells and the effect of phorbol ester

The human omentum contains a potent, not yet identified angiogenic activity. The omentum is very vascularized. Therefore, we investigated whether human omental microvascular endothelial cells (HOME cells) express the angiogenic peptide basic fibroblast growth factor (bFGF). Cytosol prepared from HOME cells stimulated DNA synthesis in bovine epithelial lens cells (BEL cells). The mitogenic activity could be neutralized by an anti‐bFGF antibody. Basic FGF‐like material from the HOME cell cytosol was bound onto a heparin‐Sepharose column at 0.6 M and was eluted at 3 M NaCl. The 3 M NaCl eluted material reacted with the specific anti‐bFGF antibody in an ELISA and stimulated DNA synthesis. It did not react with a specific anti‐acidic fibroblast growth factor (aFGF) antibody. Western blotting experiments using the same bFGF antibody showed the presence of a major band of 17 Kd and a doublet of 20‐22 Kd. Northern blotting of nonstimulated HOME cells using a specific 1.4 kb bFGF probe showed the presence of 5 molecular species of 6.6, 3.7, 2.2, 2.0, and 1.0kb. No aFGF mRNA was detected with a specific previously characterized 4.04 kb probe. 12‐O‐tetradecanoylphorbol 13‐acetate (TPA) did not influence significantly the expression of bFGF at the protein and mRNA level in HOME cells. Thus, protein kinase C activation by TPA did not appear to modulate significantly the expression of bFGF for that cell type. Contrastingly, human umbilical vein endothelial cells (HUVE cells), which expressed no bFGF and aFGF mRNA at a basal level, were induced to express bFGF but not aFGF mRNA when stimulated by TPA. These results suggest that the described angiogenic activity could be the bFGF‐like mitogen contained in HOME cells and that these cells are different from endothelial cells derived from large vessels (HUVE cells) regarding the expression of bFGF.
Treatment of advanced Parkinson's disease by subthalamotomy: One‐year results

We studied effects on parkinsonian features at 6 and 12 months in 12 patients who underwent unilateral ablation of subthalamic nucleus (STN). Microelectrode mapping was used, and a lesion was created in the STN using thermal coagulation and confirmed with magnetic resonance imaging. At 6 months postoperatively, improvements were seen in several areas: 1) Unified Parkinson's Disease Rating Scales II and III (UPDRS II and III) scores, 30% in off period, 38% in on period; 2) Schwab and England Scale (S&E) score, 21%; and 3) on dyskinesia, 85%. Contralateral rigidity, bradykinesia, UPDRS II and III scores, and S&E scores remained improved at 12 months. Daily dosage of levodopa requirement was reduced by 42%. Axial motor features, gait, postural stability, off period tremor, and motor fluctuation improved at 6 and 12 months but showed a decline in benefits at 18 months. Complications include 3 cases of hemiballism, of whom 2 patients recovered spontaneously but 1 died from aspiration pneumonia. One patient had asymptomatic hematoma, and 2 suffered transient postural asymmetries. We conclude that unilateral subthalamotomy results in moderate improvement in all aspects of parkinsonian features, allows reduction in the dose of levodopa required, and ameliorates drug‐induced complications throughout 12‐month assessments. © 2003 Movement Disorder Society
Water transport by Na+‐coupled cotransporters of glucose (SGLT1) and of iodide (NIS). The dependence of substrate size studied at high resolution

The relation between substrate and water transport was studied in Na+‐coupled cotransporters of glucose (SGLT1) and of iodide (NIS) expressed in Xenopus oocytes. The water transport was monitored from changes in oocyte volume at a resolution of 20 pl, more than one order of magnitude better than previous investigations. The rate of cotransport was monitored as the clamp current obtained from two‐electrode voltage clamp. The high resolution data demonstrated a fixed ratio between the turn‐over of the cotransporter and the rate of water transport. This applied to experiments in which the rate of cotransport was changed by isosmotic application of substrate, by rapid changes in clamp voltage, or by poisoning. Transport of larger substrates gave rise to less water transport. For the rabbit SGLT1, 378 ± 20 (n = 18 oocytes) water molecules were cotransported along with the 2 Na+ ions and the glucose‐analogue α‐MDG (MW 194); using the larger sugar arbutin (MW 272) this number was reduced by a factor of at least 0.86 ± 0.03 (15). For the human SGLT1 the respective numbers were 234 ± 12 (18) and 0.85 ± 0.8 (7). For NIS, 253 ± 16 (12) water molecules were cotransported for each 2 Na+ and 1 thiocyanate (SCN−, MW 58), with I− as anion (MW 127) only 162 ± 11 (19) water molecules were cotransported. The effect of substrate size suggests a molecular mechanism for water cotransport and is opposite to what would be expected from unstirred layer effects. Data were analysed by a model which combined cotransport and osmosis at the membrane with diffusion in the cytoplasm. The combination of high resolution measurements and precise modelling showed that water transport across the membrane can be explained by cotransport of water in the membrane proteins and that intracellular unstirred layers effects are minute.
The cost‐effectiveness of increasing kidney transplantation and home‐based dialysis

Background: Renal replacement therapy (RRT) consumes sizable proportions of health budgets internationally, but there is considerable variability in choice of RRT modality among and within countries with major implications for health outcomes and costs. We aimed to quantify these implications for increasing kidney transplantation and improving the rate of home‐based dialysis.