Miracle-dz/UniFAR-FTUs huggingface dataset:
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2–3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases by linkage analysis. However, mutation detection has become available with thorough screening methods. The phenotypic variability observed in MFS makes reproductive options difficult, as molecular diagnosis cannot predict clinical severity of the disease. Data are presented on 15 prenatal and/or preimplantation genetic diagnoses (PGD) in nine families, originating from Belgium, the Netherlands, Spain and France. In four families data from linkage analysis were used, whereas in five other families the causative FBN1 mutation was characterised. Four PGD cycles in two couples led to one ongoing pregnancy. In addition, two amniocenteses and nine chorionic villus (CV) samplings were performed. In five pregnancies an affected fetus was diagnosed. In one of them, the couple chose to continue the pregnancy and an affected child was born, whereas the other four couples decided to terminate the pregnancy. It is expected that the greater availability of mutation testing of the FBN1 gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas. Copyright © 2002 John Wiley & Sons, Ltd.
MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis

The purpose of this study was to demonstrate the course of infantile neuronal ceroid-lipofuscinosis with brain magnetic resonance imaging (MRI) in children aged 3 months to 11 years. Twenty-one patients and 46 neurologically normal controls of the same age were examined. The images were evaluated visually; then signal intensities were measured and related to those of references. MRI abnormalities were detectable before clinical symptoms. The radiologic picture of the brain varied with the duration of the disease. Pathognomonic MRI findings in the early stage of the disease were generalized cerebral atrophy, strong thalamic hypointensity to the white matter and to the basal ganglia, and thin periventricular high-signal rims from 13 months onward on T2-weighted images. In patients over 4 years old, cerebral atrophy was extreme, and the signal intensity of the entire white matter was higher than that of the gray matter, which is the reverse of normal. This study showed that the abnormalities seen on MRI progress rapidly during the first 4 years of life, then stabilize, in conformity with the clinical and histopathologic pictures of infantile neuronal ceroid-lipofuscinosis. (J Child Neurol 1995; 10:444-450).
Risk Factors for Infection with Escherichia coli in Nursing Home Residents Colonized with Fluoroquinolone-Resistant E. coli

A case-control study to determine risk factors for clinical infection with Escherichia coli was conducted among nursing home residents colonized with fluoroquinolone-resistant E. coli. Among 94 subjects, 11 (12%) developed infections with E. coli. Risk factors included the presence of a urinary catheter or tracheostomy, diabetes mellitus, and trimethoprim-sulfamethoxazole exposure. Infect Control Hosp Epidemiol 2015;00(0): 1–3
Micromorphological characterization of adhesive interface of sound dentin and total-etch and self-etch adhesives.

INTRODUCTION The ultimate goal in restorative dentistry has always been to achieve strong and permanent bond between the dental tissues and filling materials. It is not easy to achieve this task because the bonding process is different for enamel and dentin-dentin is more humid and more organic than enamel. It is moisture and organic nature of dentin that make this hard tissue very complex to achieve adhesive bond. One of the first and most widely used tools for examining the adhesive bond between hard dental tissues and composite restorative materials is scanning electron microscopy. The aim of this study was scanning electron microscopy analyzes the interfacial micro morphology of total-etch and self-etch adhesives. MATERIAL AND METHODS Micro morphological characteristics of interface between total-etch adhesive (Prime & Bond NT) in combination with the corresponding composite (Ceram X Mono) were compared with those of self-etching adhesive (AdheSE One) in, combination with the corresponding composite (Tetric EvoCeram). The specimens were observed under 1000 x magnification of scanning electron microscopy (JEOL, JSM-6460 Low Vacuum). Measurement of the thickness of the hybrid layer of the examined com posite systems was performed with the software of the device used (NIH Image Analyser). RESULTS Micromorphological analysis of interface showed that the hybrid layer in sound dentin was well formed, its average thickness being 2.68 microm, with a large number of resin tags and a large amount of lateral branches for specimens with a composite system Prime & Bond NT-Ceram X Mono. However, the specimens' with composite systems Adhese One-Tetric EvoCeram did not show the presence of hybrid layer and the resin tags were poorly represented. CONCLUSION The results of this study suggest that total-etch adhesives bond better with sound dentin than self-etch adhesive.
Do Monetary Policy Transparency, Independence and Credibility Enhance Macro- Financial Stability?

It is generally agreed that the credibility, independence and transparency of the central bank have produced better overall policy outcomes and reduced the financial market uncertainty. This paper, using panel data approach, evaluates the effect of, respectively, the central bank transparency, independence and credibility on, respectively, the level and variability of realized and expected economic performance. It also analyzes the effects of central banks characteristics on the level and variability of Government bond rate. The results obtained suggest that central bank independence does not influence the realized and expected level and variability of economic performance. As for the central bank transparency, our findings are consistent with the view that greater transparency could have a desirable reputational effect that lowers inflation expectations and long-term nominal interest rates. Finally, our results show that central bank credibility negatively influences the level and variability of Government bond rate.
AMBULATORY BLOOD PRESSURE PATTERNS IN PATIENTS WITH RETINAL VEIN OCCLUSION

Purpose: Failure of blood pressure (BP) to dip during sleep (nondipper pattern) is associated with cardiovascular disease and stroke. The prevalence and degree of nondipping and masked hypertension in patients with retinal vein occlusion (RVO), which is associated with stroke, has not been previously examined. Methods: We measured clinic and 24-hour ambulatory BPs in 22 patients with RVO and 20 control participants without known eye disease matched by age and sex. Mean BP dipping, defined as the ratio of difference in mean awake and sleep systolic BPs to mean awake systolic BP, and masked and nocturnal hypertension were compared between groups. Results: Mean 24-hour ambulatory BP was 144/79 mmHg among those with RVO and 136/77 mmHg among controls. Patients with RVO had an almost 2-fold higher prevalence of nondipping pattern (80.8% [95% confidence interval, 52.8–94.1] vs. 50.4% [95% confidence interval, 26.1–74.5]; P = 0.008). Average sleep systolic BP dip in patients with RVO was 6.1% versus 11.9% in controls (P = 0.004). More patients with RVO had masked hypertension by ambulatory BPs than controls (71% vs. 50%), but this difference was not statistically significant. Conclusion: Our data suggest an association between RVO and nondipper BP pattern. Ambulatory BP monitoring may be useful in the evaluation of patients with RVO by identifying those who may benefit from more aggressive BP control.
Porocarcinoma detected by fine needle aspiration biopsy of a node metastasis. A case report.

BACKGROUND Porocarcinomas were first reported by Pinkus and Meherengan in 1963 as uncommon malignant adnexal tumors of the skin characterized by epidermotropism with pagetoid diffusion within the epidermis. CASE The cytologic findings of an eccrine porocarcinoma lymph node metastasis in a 65-year-old female and histologic features of the skin recurrence are reported. Metastasis was firstly identified by fine needle aspiration biopsy (FNAB) performed on one inguinal lymph node. Cytologically the tumor was characterized by atypical malignant cells showing clear granular or keratinized cytoplasm and vesicular nuclei, with prominent nucleoli, which were irregularly dispersed or forming nests or cords, sometimes harboring central necrosis. The skin metastasis, detected after the cytologic FNAB diagnosis, showed superficial dissemination within the epidermis and dermal invasion. CONCLUSION Cytologic diagnosis of porocarcinoma metastases by FNAB is important for adequate treatment, but adherence to strict diagnostic criteria is necessary. The tumor cells could be histogenetically related to the intraepidermal duct cells of the eccrine sweat glands, and pagetoid diffusion is considered a sort of homing phenomenon.
Grafting Period and Donor Age Affect the Potential for Spermatogenesis in Bovine Ectopic Testis Xenografts

Abstract Bovine testis tissue xenografts contain elongating spermatids 6 mo after grafting. The percentage of seminiferous tubule cross sections with elongating spermatids at the time of graft removal varies depending on donor age and rarely exceeds 10%. These data indicate significant changes are occurring to bovine testicular cells during the first weeks of life. The objective of this research was to xenograft testis tissue from multiple ages of bull calves for 24 or 36 wk in order to gain a better understanding of early bovine testis development. Testis tissue from 1-, 2-, 4-, and 8-wk-old calves was grafted onto the backs of castrated immunodeficient mice. Testis tissue from all donor ages grew, differentiated, and produced testosterone and elongating spermatids. Testis tissue grafts from 1- and 8-wk-old calves had elongating spermatids in greater than 5.5% of seminiferous tubule cross sections at the time of graft removal regardless of grafting period. Four-week-old donor tissue never had more than 5.2% of seminiferous tubule cross sections with elongating spermatids. Extending the grafting period from 24 to 36 wk resulted in an increase in the percentage of seminiferous tubule cross sections with elongating spermatids from 2% to 10% in 2-wk donor tissue. These data demonstrate that both donor age and grafting period may be important factors regulating the maturation of bovine testis xenografts, indicating that intrinsic differences exist within testis tissue at these donor ages. These data provide the framework for further study of bovine spermatogenesis using ectopic testis xenografting.
Reexploring the Concept of Sexual Desire

This article explores how sexual desire operates in ordinary life in both sexes. Fifteen considerations divided into six categories are provided: basic aspects; easily overlooked aspects; energy concepts; politically sensitive aspects; maintaining desire; and toward a definition. Sexual desire is the sum of the forces that incline us toward and away from sexual behavior. Clinicians need to conceptualize desire richly to understand its disorders. Scientists need to simplify the concept in order to conduct pharmacological research. Ideally, the limitations of both approaches must be accepted; in anyone's hands, sexual desire can be a slippery concept.
Mice without MacroH2A Histone Variants

ABSTRACT MacroH2A core histone variants have a unique structure that includes a C-terminal nonhistone domain. They are highly conserved in vertebrates and are thought to regulate gene expression. However, the nature of genes regulated by macroH2As and their biological significance remain unclear. Here, we examine macroH2A function in vivo by knocking out both macroH2A1 and macroH2A2 in the mouse. While macroH2As are not required for early development, the absence of macroH2As impairs prenatal and postnatal growth and can significantly reduce reproductive efficiency. The distributions of macroH2A.1- and macroH2A.2-containing nucleosomes show substantial overlap, as do their effects on gene expression. Our studies in fetal and adult liver indicate that macroH2As can exert large positive or negative effects on gene expression, with macroH2A.1 and macroH2A.2 acting synergistically on the expression of some genes and apparently having opposing effects on others. These effects are very specific and in the adult liver preferentially involve genes related to lipid metabolism, including the leptin receptor. MacroH2A-dependent gene regulation changes substantially in postnatal development and can be strongly affected by fasting. We propose that macroH2As produce adaptive changes to gene expression, which in the liver focus on metabolism.
Prostate-specific antigen doubling times are similar in patients with recurrence after radical prostatectomy or radiotherapy: a novel analysis.

PURPOSE Some investigators have analyzed the rate of growth of prostate cancer that has recurred after definitive radiotherapy or radical prostatectomy using serum prostate-specific antigen (PSA) doubling times (DT). We examined all PSA values in recurrent patients to determine the pattern and rate of increase in PSA after radiation therapy and radical prostatectomy. PATIENTS AND METHODS Charts of 96 recurrent radical prostatectomy patients (mean age, 62.8 years; range, 47 to 76) and 42 recurrent radiation therapy patients (mean age, 67.2 years; range, 52 to 83) were reviewed. All available PSA values between the date of operation/radiation treatment and last follow-up evaluation or the initiation of second-line therapy are included. Rate of PSA DT was not assumed to be constant over time; it was instead allowed to vary. We use a piecewise linear random-coefficients model in time for log (PSA), which allowed different mean models for both treatments. RESULTS The PSA DT in the first year after radiation therapy was--1.17 years, which reflects the continuous decline in PSA in the average patients during the first year after radiotherapy despite eventual biochemical progression. In contrast, the PSA DT in the radical prostatectomy group was 0.66 in the first year. In year 2, after radiation therapy, the PSA DT was lengthy at 1.82 years, significantly longer (P = .0025) than in the radical prostatectomy group (0.76 years). After year 2, there were no significant differences between the two groups (P > .05). CONCLUSION A piecewise linear random-coefficients model enables interval analysis of PSA DT. While the PSA DT after radiation therapy and radical prostatectomy are different in the first 2 years, the rate of increase in PSA appears to be similar in the two groups after year 2, which suggests the rate of growth of cancers that recur after radiation therapy and radical prostatectomy is similar.
Effects of repeated transvaginal aspiration of immature follicles on mare health and ovarian status.

REASONS FOR PERFORMING STUDY Transvaginal ultrasound-guided follicle aspiration (TVA) is performed clinically but there is little information available on complications associated with this procedure. OBJECTIVES It is possible that TVA is associated with damage to the ovary and may induce peritonitis or peritoneal adhesions. This study was conducted to determine the effect of repeated TVA on mare health and ovarian status. METHODS Thirty-two mares were used for oocyte recovery via repeated TVA over a 3 year period; different mares were used each year. In Year 1, ovarian status was monitored in 11 mares by transrectal palpation and ultrasonography. In Year 2, 6 of 11 mares underwent abdominocentesis and were examined by laparoscopy after one TVA and again after multiple TVAs. In Year 3, 10 mares underwent multiple TVAs with either a 15 or a 12 gauge needle and the ovaries were removed for examination. RESULTS Four hundred and twenty-seven aspiration sessions (390 via TVA and 37 via needle placement through the flank) and 3202 follicle punctures (3161 TVA and 41 flank) were performed. One mare developed an ovarian abscess. Transient rectal bleeding was evident after 16% of TVA sessions. No adhesions were found on laparoscopic or gross examination of ovaries and there were minimal changes on histological evaluation. CONCLUSIONS Follicle aspiration carries a small possibility (< 0.5%) of ovarian abscess formation. There is a possibility of rectal abrasion or puncture but little gross or histological damage to the ovary. POTENTIAL RELEVANCE These results provide a basis for using prophylactic administration of antibiotics after TVA and for advising mare owners of the rare but potential complications associated with the procedure.
A comparison of pain scales in Thai children

Three commonly used pain scales, the visual analogue scale, the Wong-Baker Faces Pain Scale, and the Faces Pain Scale Revised were administered to 122 Thai children, of whom half were HIV infected, in order to assess their validity. These scales presented moderate to good correlation and moderate agreement, sufficient for valid use in Thai children.
Partially gapped Fermi surface in the heavy-electron superconductor URu2Si2.

Transport, thermal, and magnetic data for the heavy electron system URu2Si2 indicate that a charge- or spin-density-wave transition opens an energy gap of approx.11 meV over a portion of the Fermi surface below T0roughly-equal17.5 K and demonstrate that bulk superconductivity occurs below T/sub c/roughly-equal1.5 K. The pressure dependences of T0 and T/sub c/ support this interpretation. The unusually large initial slope of the upper critical magnetic field (9.2 T/K) is consistent with the high values of the electronic-specific-heat coefficient and the electrical resistivity.
Pharmacologic Therapy of Lower Urinary Tract Dysfunction

Introduction Pharmacologic therapy, a primary treatment of urinary urge incontinence and detrusor overactivity, is also important in the treatment of other urinary disorders including stress incontinence, nocturnal enuresis and nocturia, and voiding dysfunction. The purpose of this chapter is to highlight the role that pharmacotherapy plays in the treatment of patients with lower urinary tract dysfunction. Pharmacologic agents often produce statistically significant changes in urodynamic parameters; however, this may not always translate into clinically significant improvement. In most drug trials, a significant placebo effect is seen. Therefore, when evaluating the efficacy of pharmacologic agents for the treatment of incontinence and other urogynecologic disorders, it is important to rely most heavily on evidence from randomized placebo-controlled trials. Other shortcomings of some currently available data, including small numbers of patients, short follow-up, variable outcome measures, and non-generalizable study populations, must be kept in mind when evaluating the effectiveness of pharmacologic treatment of urogynecologic conditions.
Analytical performances of the d‐dimer assay for the Immulite 2000 automated immunoassay analyser

We evaluated the analytical performances of a new commercial chemiluminescent enzyme immunometric assay for d‐dimer measurement on the Immulite 2000 automated analyser. The within‐ and between‐run coefficients of variations for low, intermediate and high d‐dimer concentrations ranged from 2.2% to 5.1% and from 2.9% to 6.0% respectively. The assay was proven linear in a range of d‐dimer concentrations comprised between 324 and 7602 ng/ml. Comparison of samples collected in either 0.109 mol/l sodium citrate or lithium–heparin tubes by Bland–Altman plots and nonparametric regression analysis (y = 0.858x − 39, r = 0.997; P < 0.0001) revealed a minimum bias, almost completely attributable to the dilution effect of the anticoagulant. Results of 56 outpatients’ citrated plasma samples analysed with the Immulite 2000 d‐dimer assay were compared with those of the current reference commercial immunoassay on the Mini Vidas Immunoanalyser. Although the nonparametric regression according to the method of Passing and Bablok and the relative Spearman's correlation coefficient was satisfactory (Immulite = 1.001 × Vidas − 181; r = 0.937, P < 0.001), some random discrepancies could be observed in Bland–Altman plots analysis. The analytical accuracy, calculated as the area under the Receiver Operating Characteristic (ROC) curve (AUC), was 0.961 (P < 0.0001). On the basis of the results of the present evaluation, we conclude that the analytical performances and the main technical features of new Immulite 2000 d‐dimer assay make it a suitable method for the rapid quantification of d‐dimer in clinical laboratories.
Clinical relevance of Ureaplasma urealyticum colonization in preterm infants

A cohort of 78 infants of gestational age less than 34 weeks was examined for Ureaplasma urealyticum colonization and neonatal morbidity. Ureaplasma urealyticum was cultured from nasopharyngeal, endotracheal and blood‐culture samples. A child was considered as being colonized if any sample was positive. The children with perinatal U. urealyticum colonization (n= 11; 14%) differed from those with no colonization (n= 67) in two important aspects: (i) they had higher leucocyte counts on the first (18.6 vs 12.4 109) and the second (29.0 vs 15.4 109) days of life (p= 0:01, both days); and (ii) they more often needed high‐frequency oscillatory ventilation (45% vs 13%, p= 0:02). This study showed that U. urealyticum colonization is associated with signs of the host defence response together with symptoms of respiratory tract involvement suggesting the pathogenicity of U. urealyticum in premature infants.
Functional (Meta)Models for the Development of Control Software

Abstract The development of control software is a complex task: it requires the integration of many descriptions and tools for specification, design, deployment, etc. To reduce the gap between the various models used to describe a system, this paper proposes the concept of functional metamodels, i.e. precise descriptions of a modeling language embedded into a functional language. The interest of the concept is the ability to define frameworks to simplify the development process. In particular, the paper proposes a framework for specification, design and deployment and applies it to the example of a legged robot.
Molecular dynamics simulation of the phosphorylation-induced conformational changes of a tau peptide fragment Tau peptide conformation changes : An MD study

Aggregation of the microtubule associated protein tau (MAPT) within neurons of the brain is the leading cause of tauopathies such as Alzheimer’s disease. MAPT is a phospho-protein that is selectively phosphorylated by a number of kinases in vivo to perform its biological function. However it may become pathogenically hyperphosphorylated, causing aggregation into paired helical filaments (PHFs) and neurofibrillary tangles (NFTs). The phosphorylation induced conformational change on a peptide of MAPT (htau225-250) was investigated by performing molecular dynamics (MD) simulations with different phosphorylation patterns of the peptide (pThr231 and/or pSer235) in different simulation conditions to determine the effect of ionic strength and phosphate charge. All phosphorylation patterns were found to disrupt a nascent terminal β-sheet pattern (VAVVR and QTAPVP), replacing it with a range of structures. The double pThr231/ pSer235 phosphorylation pattern at experimental ionic strength resulted in the best agreement with NMR structural characterisation, with the observation of a transient α-helix (AKSRLQT). PPII helical conformations were only found sporadically throughout the simulations.