Miracle-dz/UniFAR-FTUs huggingface dataset:
MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta

The Amelogenesis Imperfecta (AI) are a group of clinically and genetically heterogeneous disorders that affect enamel formation. To date, mutations in 4 genes have been reported in various types of AI. Mutations in the genes encoding the 2 enamel proteases, matrix metalloproteinase 20 (MMP20) and kallikrein 4 (KLK4), have each been reported in a single family segregating autosomal-recessive hypomaturation AI. To determine the frequency of mutations in these genes, we analyzed 15 Turkish probands with autosomal-recessive hypomaturation AI for MMP20 and KLK4 gene mutations. No KLK4 mutations were found. A novel MMP20 mutation (g.16250T>A) was found in one family. This missense mutation changed the conserved active-site His226 residue of the zinc catalytic domain to Gln (p.H226Q). Zymogram analysis demonstrated that this missense mutation abolished MMP20 proteolytic activity. No MMP20 mutations were found in the remaining 14 probands, underscoring the genetic heterogeneity of hypomaturation AI.
Fabrication and characterization of polyacrylamide/silk fibroin hydrogels for peripheral nerve regeneration

Various hydrogels have been used for repairing peripheral nerve injury; however, the silk fibroin (SF)-based hydrogels in peripheral nerve regeneration are still rarely reported. In this study, the SF/pAM hydrogels with different SF concentrations and ethanol treatment time were developed by solution blending and in situ radical polymerization. The physiochemical properties of composite hydrogels were measured, the cytotoxicity of hydrogels was evaluated by L929 fibroblasts, and the effect on peripheral nerve regeneration was evaluated via Schwann cells culture in vitro. The results showed that the physiochemical properties of SF/pAM hydrogels could be changed by varying SF concentration and ethanol treatment time, and the mechanical property was enhanced with increasing SF concentration, while the presence of SF in pAM hydrogels and ethanol treatment does not affect hydrogels structure in per se. All the composite hydrogels displayed no obvious cytotoxicity, while the SF/pAM composite hydrogels with 10% SF and 60-min ethanol treatment could obviously accelerate the attachment and proliferation of Schwann cells. Therefore, the SF/pAM composite hydrogels possessed the beneficial properties required for in situ cell scaffolding and may have potential application in peripheral nerve regeneration.
Exercise training for health-related quality of life in peripheral artery disease: A systematic review and meta-analysis

We sought to quantify whether health-related quality of life (HRQoL) is improved through exercise training in people with peripheral artery disease (PAD) and to clarify which prescriptions were optimal for improving HRQoL when compared to usual care. We conducted a systematic search (PubMed, CINAHL, Cochrane Central Register of Controlled Trials; 1966 – 31 August 2014). We only included randomized controlled trials (RCTs) of exercise training versus usual medical care in persons with PAD that included the Walking Impairment Questionnaire (WIQ) and Short-Form Health Survey component summary scores as outcomes. Of 15 RCTs, 1257 participants were studied: 543 participated in supervised exercise, with only 61 undertaking resistance training and 316 unsupervised exercise. When compared to controls, participants who completed any form of exercise training significantly improved their WIQ speed [mean difference (MD) 9.60 (95% CI 6.98 to 12.23, p<0.00001)]; WIQ distance [MD 7.41 (95% CI 4.49 to 10.33, p<0.00001)] and WIQ stair-climbing [MD 5.07 (95% CI 3.16 to 6.99, p<0.00001)]. Walking also significantly improved the Short-Form Physical Component Summary (SF-PCS) score when compared to controls [MD 1.24 (95% CI 0.48 to 2.01, p=0.001)], but not the Mental Component Summary (SF-MCS) score [MD –0.55 (95% CI –1.27 to 0.18, p=0.14)]. Exercise training improves the SF-PCS dimension, as well as perceived walking distance, speed and stair-climbing as measured by the WIQ, but not the SF-MCS score. Future studies should aim to blind assessors of such subjective measures, and study alternative modes and prescriptions of exercise alternative to walking.
Detection of Chlamydia trachomatis in semen and urethral specimens from male members of infertile couples in Tunisia

The sequelae to infection with Chlamydia trachomatis in women are an established cause of tubal infertility. However, little is known about chlamydial infection and male infertility. The main objective of this study was to evaluate the presence of asymptomatic C. trachomatis infections in urethral and semen specimens from the male members of infertile couples by means of four different methods: the direct fluorescence antibodies assay, cell culture, the Roche Cobas Amplicor polymerase chain reaction, and the presence of chlamydial local IgA antibodies by the recombinant antibody-enzyme-linked immunosorbent assay. One or more chlamydial infection markers were detected in 42 (45.7%) of the 92 examined urethral and semen specimens from the male partners of infertile couples. C. trachomatis was detected in 23.9% (22/92) of urethral specimens and in 35.9% (33/92) of semen specimens. Although there was a significant correlation between the detection of one or more chlamydial infection markers in urethral and semen specimens (p = 0.01), no significant correlation was found between the detection of C. trachomatis DNA in these samples. Furthermore, no significant association was found between the presence of chlamydial local IgA antibodies and the detection of C. trachomatis. The discrepancies in positive results found between some techniques for the detection of C. trachomatis in urethral and semen specimens might be explained by variations in the sensitivities and specificities of the tests carried out and the use of specimens from different anatomical locations. Our findings suggest that C. trachomatis seems to be widespread among the male partners of infertile couples in Tunisia. The detection of C. trachomatis in urethral or semen specimens can serve as a marker for the presence of this organism in the genital tract, which is not necessarily the cause of male infertility. The study of the correlation between the detection of chlamydial infection markers and the parameters of male fertility seems to be necessary in order to determine the direct link between chlamydial infection and male infertility and to choose the most efficient technique and most suitable specimen with which to diagnose C. trachomatis-associated male infertility.
Phacoemulsification in patients with nanophthalmos.

OBJECTIVE To evaluate phacoemulsification surgery and its possible risks in patients with nanophthalmos. DESIGN The surgical procedure, corneal diameter, keratometry, axial length, visual acuity, and intraoperative and postoperative complications were reviewed. Scleral thickness was determined by echography. PARTICIPANTS 5 patients, 8 eyes. METHODS The results of cataract surgery in nanophthalmic eyes were reviewed. Inclusion criteria was based on a clinical diagnosis of nanophthalmos and ocular surgery for cataract. Nanophthalmos was diagnosed according to a shorter than average axial length (usually less than 20.0 mm), typically a shallow anterior chamber, hyperopia, and scleral thickening greater than 1.5 mm. The procedure was planned as phacoemulsification, and foldable acrylic PCIOL implantation via a clear corneal tunnel. RESULTS The procedure was planned as phacoemulsification. Six eyes had cataract extraction with posterior chamber intraocular lens implantation by phacoemulsification. It was necessary to change the procedure to extracapsular cataract surgery in 2 cases because of uncontrolled shallowing of the anterior chamber. Postoperative trabeculectomy was needed in 1 eye, and Nd:YAG laser capsulotomy was performed on 4 eyes. No postoperative uveal effusion or infections were seen in any of the eyes. Complications included iritis with posterior synechia (n = 1), transient choroidal hemorrhage (n = 1), vitreous loss (n = 1), posterior capsule opacity (n = 4), and glaucoma (n = 1). In 1 case retinal detachment developed 3 weeks postoperatively. Prophylactic laser iridoplasty or iridotomy was not performed for surgery. CONCLUSIONS Although phacoemulsification seems to be relatively safe in nanophthalmic patients without performing any prophylactic surgical procedure, surgeons need to be attentive of the challenges of working through them when performing phacoemulsification in these high-risk eyes. However, with careful preoperative evaluation and planning, complications can be avoided.
Distal Radius Fracture Outcomes and Rehabilitation

Distal radius fractures account for nearly 1 of every 5 fractures in individuals aged 65 or older. Moreover, increased susceptibility to vertebral and hip fractures has been documented in patients a year after suffering a distal radius fracture. Although women are more susceptible to hip fractures, men experience a higher mortality rate in the 7 years following a distal radius fracture. Traditional approaches to distal radius fractures have included both surgical and nonsurgical treatments, with predominant complaints involving weakness, stiffness, and pain. Nonsurgical approaches include immobilization with or without reduction, whereas surgical treatments include dorsal spanning bridge plates, percutaneous pinning, external fixation, and volar plate fixation. The nature of the fracture will determine the best treatment option, and surgeons employ a multifactorial treatment approach that includes the patient’s age, nature of injury, joint involvement, and displacement among other factors. Historically, closed reduction and percutaneous pinning have been the most popular approaches. However, volar plate fixation is quickly becoming a popular option as it minimizes tendon irritation, reduces immobilization time, and decreases risk of complication. The goal of treatment is to restore mobility, reduce pain, and improve functional outcomes following rehabilitation. The aim of this review is to summarize the most common treatments and importance of early referral to hand therapy to improve functional outcomes.
The Caregiver’s Burden of Alzheimer Patients: Differences Between Live-In and Non-Live-In

The objective of our study was to describe the burden of a sample of 208 live-in/non-live-in caregivers of patients with Alzheimer’s disease (AD). We analyzed the statistical correlation between Caregiver Burden Inventory (CBI) and the live-in/non-live-in caregiver status, and between the ‘‘objective burden,’’ the cognitive deterioration, functional ability, and psychic and behavioral disorders. Using analysis of variance (ANOVA), the live-in groups of caregivers were compared to each subscale and to the total CBI. Living with a patient causes a bigger burden associated to the ‘‘developmental and physical burden,’’ which is affected more by the functional impairment than by the cognitive-behavioral aspect. Understanding the aspects of this burden in the initial-intermediate phase of the disease and being able to monitor it over time could contribute to improving the interventions already in place, which affect burden, stress, and quality of life of caregivers and their sick family members.
A Quantitative Service Accountability Model

Recently, several global institutions have fallen victim to concerns regarding disclosure and accountability. The most poignant examples are the recent US Wall Street collapse due to the burgeoning effect of Collateralized Debt Obligations (CDO). The key concern for consumers of these services are transparency, disclosure, and trust of the product/services. These are elementary attributes of accountability and in the online world of trading goods and services Information Technology provides the SOA foundation for executing these global transactions. This paper presents a quantitative model to measure and assess accountability in SOA. The proposed model may be applied in practice to assess accountability of a service or process, assisting to strengthen accountability in SOA and general information and communication technology (ICT) solutions that support transactions globally.
Osteopontin Deficiency Attenuates Atherosclerosis in Female Apolipoprotein E–Deficient Mice

Objective—Osteopontin (OPN), a noncollagenous adhesive protein, is implicated in atherosclerosis, in which macrophages within atherosclerotic plaques express OPN. However, it is not known whether the elevated OPN expression is a cause or result of atherosclerosis. Methods and Results—We generated mice that lacked OPN and crossed them with apolipoprotein (apo) E–deficient mice and analyzed these mice with a mixed C57BL/6×129 background after 36 weeks on a normal chow diet. In female mice, OP+/−E−/− and OP−/−E−/− mice had significantly smaller atherosclerotic and inflammatory lesions compared with OP+/+E−/− mice, and that was reflected by smaller area of MOMA-2–positive staining. In male mice, however, there was no significant difference in the atherosclerosis lesion areas among 3 genotypes. In both OP−/−E−/− and OP+/+E−/− mice, typical atherosclerotic lesions were detected, which include necrotic core, foamy cell collections, and cholesterol clefts. However, we found that vascular mineral-deposited areas in 60-week-old male OP−/−E−/− mice were significantly increased compared with those in OP+/+E−/− male mice. Conclusions—These results suggest that OPN plays a promoting effect in atherosclerosis and inhibitory effect in vascular calcification. The suppression of OPN expression in females should be considered a therapeutic possibility in atherosclerosis.
Expanded-Criteria Donor Kidneys: A Single-Center Clinical and Short-Term Financial Analysis—Cause for Concern in Retransplantation

Background. Expanded-criteria donor (ECD) kidneys are associated with a higher risk of posttransplant failure, but they remain a favorable alternative to dialysis. Now that a uniform definition of “expanded criteria” exists, it is more appropriate than ever to evaluate their utility compared with that seen with non-ECD kidneys. Methods. The authors analyzed 202 cadaveric kidney-only recipients that underwent transplantation from January 1999 to September 2001, including 45 (22%) recipients whose donors met current ECD criteria. Results. ECD and non-ECD kidney recipients had similar pretransplant characteristics except for older age and increased duration of renal failure in the ECD group. Patient, graft, and death-censored graft survival in both groups were similar in primary recipients but significantly worse in retransplant recipients of ECD kidneys. The relative risk of death-censored graft loss was 1.58 in the ECD group (P=0.45). Overall inpatient charges (minus organ acquisition charge) for 1 year posttransplant were $76,962 (ECD) versus $71,026 (non-ECD) (P=0.53); the same charges in retransplant recipients were $136,596 (ECD) versus $91,296 (non-ECD) (P=0.25). ECD recipients, especially retransplant recipients, had consistently higher creatinine concentrations, although the average current value of all functioning ECD grafts remains less than 2 mg/dL. ECD recipients had a higher incidence of ureteral stricture (4.4% vs. 0%), but this never resulted in graft loss. Conclusions. Considering the widening disparity between renal allograft availability and need and the fact that ECD kidneys provide superior outcomes compared with dialysis, the authors’ data encourage the continued use of ECD kidneys in primary recipients but justify caution in the retransplant setting.
Association of Hemodynamic Factors With Intracranial Aneurysm Formation and Rupture: Systematic Review and Meta-analysis.

BACKGROUND Recent evidence suggests a link between the magnitude and distribution of hemodynamic factors and the formation and rupture of intracranial aneurysms. However, there are many conflicting results. OBJECTIVE To quantify the effect of hemodynamic factors on aneurysm formation and their association with ruptured aneurysms. METHODS We performed a systematic review and meta-analysis through October 2014. Analysis of the effects of hemodynamic factors on aneurysm formation was performed by pooling the results of studies that compared geometrical models of intracranial aneurysms and "preaneurysm" models where the aneurysm was artificially removed. Furthermore, we calculated pooled standardized mean differences between ruptured and unruptured aneurysms to quantify the association of hemodynamic factors with ruptured aneurysms. Standard PRISMA guidelines were followed. RESULTS The hemodynamic factors that showed high positive correlations with location of aneurysm formation were high wall shear stress (WSS) and high gradient oscillatory number, with pooled proportions of 78.8% and 85.7%, respectively. Positive correlations were largely seen in bifurcation aneurysms, whereas negative correlations were seen in sidewall aneurysms. Mean and normalized WSS were significantly lower and low shear area significantly higher in ruptured aneurysms. CONCLUSION Pooled analyses of computational fluid dynamics models suggest that an increase in WSS and gradient oscillatory number may contribute to aneurysm formation, whereas low WSS is associated with ruptured aneurysms. The location of the aneurysm at the bifurcation or sidewall may influence the correlation of these hemodynamic factors.
Role of transforming growth factor-beta 1 in invasion and metastasis in gastric carcinoma.

PURPOSE Transforming growth factor-beta1 (TGF-beta1) is a major modulator of cellular proliferation and extracellular matrix formation. We determined the role of TGF-beta1 in invasion and metastasis in gastric cancer. MATERIALS AND METHODS We detected TGF-beta1 expression in primary and lymph node metastatic lesions of gastric cancer, using an antibody and in situ hybridization. The plasma TGF-beta1 levels in the peripheral vein and in the tumor drainage vein were assayed. RESULTS In the cytoplasm of cancer cells, TGF- beta1 was immunostained in 35.9% (78 of 217) of primary gastric carcinomas, and this expression was confirmed by in situ hybridization. Of 59 gastric carcinomas with a TGF-beta1-negative primary tumor, metastatic lymph nodes were positive for TGF-beta1 staining in 32 cases (54.2%). Positive staining of TGF-beta1 in gastric cancer tissues was closely related to serosal invasion, infiltrative growth, and lymph node metastasis. Multivariate analysis showed that the expression of TGF-beta1 was an independent risk factor for serosal invasion and infiltrative growth of the tumor. The plasma level of TGF-beta1 did not differ between TGF-beta1-negative and -positive groups. There were also no differences in plasma TGF-beta1 levels among each tumor stage, between the peripheral and the tumor drainage veins, and between preoperative and postoperative testings. CONCLUSION Transforming growth factor-beta1 is closely related to the invasion and metastasis of gastric cancer, and production of TGF-beta1 in the tumor does not contribute to the total amount of TGF-beta1 in the blood circulation. We interpret our observations to mean that in a tumor microenvironment, TGF-beta1 alters the biologic behavior of the tumor.
Human immunodeficiency virus/acquired immunodeficiency syndrome knowledge among high school students in Kırıkkale province of Turkey

Background: The purpose of the present study was to assess the existing level of knowledge of high school children about human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) and the sources of their information. Materials and Methods: A cross-sectional survey was conducted in two high schools in Kirikkale, Turkey and data were collected by a self-administered questionnaire. Multi-stage sampling technique was used to obtain a representative sample. Results: Four hundred and seventy three participants; 230 males and 243 females were analyzed. Their ages ranged from 15 to 19 years with a mean age of 16.81 ± 1.27. 92.2% of the students claimed to have heard about HIV/AIDS prior to the study with slightly more females than males. Although with some misconceptions, majority of the participants knew that HIV is not transmitted by sharing meals, casual contact, and sleeping in the same room and using the same bathroom. 93.4% identiﬁed HIV/AIDS as a life-threatening disease and 27% believe that there is a cure for AIDS. 64% and 22.8% respectively believed that the people can protect themselves by using condoms and by avoiding sexual contact. Internet was preponderantly claimed as the most important source of information about HIV/AIDS. Conclusion: Empirical evidence from this study suggests that the students have a fairly high knowledge of HIV/AIDS. This is not without some misconceptions about the prognosis of the disease. Internet was the major source of HIV/AIDS information.
Long term effects of inhaled corticosteroids in chronic obstructive pulmonary disease: a meta-analysis

BACKGROUND The role of inhaled corticosteroids in the long term management of chronic obstructive pulmonary disease (COPD) is still unclear. A meta-analysis of the original data sets of the randomised controlled trials published thus far was therefore performed. The main question was: “Are inhaled corticosteroids able to slow down the decline in lung function (FEV1) in COPD? ” METHODS A Medline search of papers published between 1983 and 1996 was performed and three studies were selected, two of which were published in full and one in abstract form. Patients with “asthmatic features” were excluded from the original data. Ninety five of the original 140 patients treated with inhaled corticosteroids (81 with 1500 μg beclomethasone daily, six with 1600 μg budesonide daily, and eight with 800 μg beclomethasone daily) and 88 patients treated with placebo (of the initial 144 patients) were included in the analysis. The effect on FEV1 was assessed by a multiple repeated measurement technique in which points of time in the study and treatment effects (inhaled corticosteroids compared with placebo) were investigated. RESULTS No baseline differences were observed (mean age 61 years, mean FEV145% predicted). The estimated two year difference in prebronchodilator FEV1 was +0.034 l/year (95% confidence interval (CI) 0.005 to 0.063) in the inhaled corticosteroid group compared with placebo. The postbronchodilator FEV1 showed a difference of +0.039 l/year (95% CI –0.006 to 0.084). No beneficial effect was observed on the exacerbation rate. Worsening of the disease was the reason for drop out in four patients in the treatment group compared with nine in the placebo group. In the treatment group six of the 95 subjects dropped out because of an adverse effect which may have been related to the treatment compared with two of the 88 patients in the placebo group. CONCLUSIONS This meta-analysis in patients with clearly defined moderately severe COPD showed a beneficial course of FEV1 during two years of treatment with relatively high daily dosages of inhaled corticosteroids.