Miracle-dz/UniFAR-FTUs huggingface dataset:
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation

Human physical pigmentation is determined by the type and amount of melanin and the process of pigmentation production probably involves more than 100 genes. A failure to synthesize melanin results in oculocutaneous albinism (OCA). A recently identified form of OCA results from mutations in the Membrane Associated Transporter Protein (MATP) gene. The role of MATP in human pigmentation is not clear. We investigated the role of two nonpathogenic nonsynonymous single nucleotide polymorphisms (SNPs) in the MATP gene to determine if they are associated with normal human skin, hair, and eye color variation. A total of 608 individuals from four different population groups (456 Caucasians, 31 Asians, 70 African‐Americans, and 51 Australian Aborigines) were genotyped for c.814G>A (p.Glu272Lys) and c.1122C>G (p.Phe374Leu). Results indicate that the allele frequencies of both polymorphisms are significantly different between population groups. The two alleles, 374Leu and 272Lys, are significantly associated with dark hair, skin, and eye color in Caucasians. The odds ratios (ORs) of the LeuLeu genotype for black hair and olive skin are 25.63 and 28.65, respectively, and for the LysLys genotype are 43.23 and 8.27, respectively. The OR for eye color is lower at 3.48 for the LeuLeu and 6.57 for LysLys genotypes. This is the first report of this highly significant association of MATP polymorphisms with normal human pigmentation variation. Hum Mutat 25:278–284, 2005. © 2005 Wiley‐Liss, Inc.
Determination of the secondary structure and global topology of the 44 kDa ectodomain of gp41 of the simian immunodeficiency virus by multidimensional nuclear magnetic resonance spectroscopy.

The gp41 protein of the human (HIV) and simian (SIV) immunodeficiency viruses is part of the envelope glycoprotein complex gp41/gp120 which plays an essential role in viral infection. We present a multidimensional NMR study on the trimeric 44 kDa soluble ectodomain of SIV gp41 (e-gp41), comprising residues 27 to 149. Despite the large molecular weight and very limited spectral dispersion, complete backbone 1H, 13C, 13CO and 15N assignments have been made using a combination of triple resonance experiments on uniformly 13C/15N and 2H/13C/15N-labeled samples. The secondary structure of SIV e-gp41, derived on the basis of 13C chemical shifts, NH exchange rates, medium range nuclear Overhauser enhancements (NOE), and 3JHNalpha coupling constants, consists of a 49 residue helix at the N terminus (residues 29 to 77) and a 40 residue helix at the C terminus (residues 108 to 147), connected by a 30 residue loop which does not display any of the characteristics of regular secondary structure. The cross-peak intensities of the loop region in scalar correlation experiments suggests that it is more mobile than the core helical regions. The presence, however, of numerous long range NOEs, both intra and inter-subunit, within the loop indicates that it adopts a well-defined structure in which the loops from the three subunits interact with each other. Based on a number of long range intra and inter-subunit NOEs, a topological model is presented for the symmetric SIV e-gp41 trimer in which the N-terminal helices are packed within the protein interior in a parallel trimeric coiled-coil arrangement, while the C-terminal helices are located on the protein exterior, oriented antiparallel to the N-terminal helices.
Piggyback resistive Micromegas

A novel read-out architecture has been developed for the Micromegas detector. The anode element is made of a resistive layer on a ceramic substrate. The detector part is entirely separated from the read-out element. Without significant loss, signals are transmitted by capacitive coupling to the read-out pads. The detector provides high gas gain, good energy resolution and the resistive layer assures spark protection to the electronics. This assembly could be combined with modern pixel array electronic ASICs. This readout organization is free on how the pixels are designed, arranged and connected. We present first results taken with a MediPix read-out chip.
Dynamic range of the contralateral stapedius reflex in cochlear implant patients.

The dynamic range of the contralateral Stapedius reflex elicited by analog electrostimulation via cochlear implant was investigated in 8 subjects supplied with a Vienna prosthesis. The study comprised patients fitted with intracochlear devices as well as patients with extracochlear devices. Sinusoidal bursts of 125, 500, 1,000 and 2,000 Hz were used as stimulation signals. Only in one patient was saturation of reflex amplitude observed. The dynamic range of the Stapedius reflex was defined either by the difference in stimulus level for reflex saturation or individual uncomfortable loudness level and reflex threshold. Two different methods were used, yielding values between 0.1 and 12 dB, with a median of 4 dB. The individual results were compared with individual psychoacoustic quantities, i.e. subjective dynamic range (difference between sensation threshold and uncomfortable loudness level) and residual dynamic range (difference between most comfortable loudness level and uncomfortable loudness level). The reflex dynamic range is located within the residual dynamic range of electrostimulation. Thus the Stapedius reflex dynamic range can be applied as a rough estimate of minimum residual dynamic range.
Kinetic interactions of nadolol and propranolol with cimetidine.

Feller, D. R. & Gerald, M. C. (1971). Interactions of spironolactone with hepatic microsomal drug metabolising systems. Biochem. Pharmac. , 20, 1991-20(0). Huffman, D. H. , Shoeman, D. W. , Pentikainen, P. & Azarnoff, D. L. ( 1973). The effect of spironolactone on antipyrine metabolism in man. Pharmacology, 10, 338-344. Ohnhaus, E. E. & Park, B. K. (1979). Measurement of urinary 6,1-hydroxycortisol excretion as an in vivo parameter in the clinical assessment of the microsomal enzyme inducing capacity of antipyrine, phenobarbitone and rifampicin. Euir. J. clin. Pharmac. , 15, 139-145. Talcott, R. E. & Stohs, S. J. (1972). Metabolism of aniline and hexobarbital by liver homogenates of spironolactone pretreated rats. J. pharm. Sci., 61, 296-297. Taylor, S. A. , Rawlins, M. D. & Smith, S. E. (1972). Spironolactone-a weak inducer in man. J. Pharm. Pharmac. , 24. 578-579.
Aging and alexithymia: association with reduced right rostral cingulate volume.

OBJECTIVES Previous studies have linked alexithymia to an inability to process emotions appropriately. Older persons show changes in emotion processing and have higher alexithymia scores. Because the anterior cingulate cortex (ACC) is one of the regions showing earlier decline in late-life, and alexithymia seems to be related to a dysfunction in right hemisphere regions including the ACC subserving affective processes, the present study sought to test the hypothesis that reduced ACC volume accounts for the association between older age and alexithymia. DESIGN Correlation analyses between functionally distinct ACC subregions, age and alexithymia features. SETTING University of Iowa. PARTICIPANTS Twenty-four healthy volunteers aged between 24 and 79 years. MEASUREMENTS Psychiatric and neuropsychological assessment and assessment of alexithymia using the 20-item Toronto Alexithymia Scale. High-resolution magnetic resonance imaging, and in-house developed methods for ACC parcellation. RESULTS Older age directly correlated with higher overall alexithymia and reduced bilateral rostral and right dorsal ACC gray matter volume. Furthermore, higher alexithymia scores correlated with reduced right rostral ACC volume. This correlation seems to be influenced primarily by Factor 3 of the alexithymia scale measuring diversion of attention to external details in place of internal feelings. CONCLUSIONS These results suggest that alexithymia in older age may be a result of structural changes in the right rostral ACC.
Implicit Sexual Orientation Ambivalence − On Feeling Torn About One ' s Sexuality : The Effects of Explicit

Three studies offer novel evidence addressing the consequences of explicit–implicit sexual orientation (SO) ambivalence. In Study 1, self-identified straight females completed explicit and implicit measures of SO. The results revealed that participants with greater SO ambivalence took longer responding to explicit questions about their sexual preferences, an effect moderated by the direction of ambivalence. Study 2 replicated this effect using a different paradigm. Study 3 included self-identified straight and gay female and male participants; participants completed explicit and implicit measures of SO, plus measures of self-esteem and affect regarding their SO. Among straight participants, the response time results replicated the findings of Studies 1 and 2. Among gay participants, trends suggested that SO ambivalence influenced time spent deliberating on explicit questions relevant to sexuality, but in a different way. Furthermore, the amount and direction of SO ambivalence was related to self-esteem.
[Reasons and meanings attributed by women who experienced induced abortion: an integrative review].

OBJECTIVE Identifying the contribution of developed research on what motivates women to induce an abortion and the meaning attributed to these experiences in their lives. METHOD An integrative review conducted in MEDLINE/PubMed, LILACS, BDENF, CINAHL and SciELO databases, covering the periods from 2001 to 2011. RESULTS We selected and analyzed 11 studies with selection criteria being reasons given by women for inducing abortion and/or the meaning attributed to this experience in their lives, including social, religious, ethical and moral aspects related to this practice, as well as the suffering experienced from the experience. The illegality of abortion is identified as a risk factor for unsafe abortions, reaffirming this issue as a public health and social justice problem. CONCLUSION Results evidence aspects that can contribute to improving health quality and ratify the importance of research to support nursing practices.
T1ρ dispersion imaging of head and neck tumors: A comparison to spin lock and magnetization transfer techniques

The potential of T1ρ dispersion, spin lock (SL), and magnetization transfer (MT) techniques to differentiate benign and malignant head and neck tumors was evaluated. Twenty‐four patients with pathologically verified head and neck tumors were studied with a . 1‐T MR imager. T1ρ dispersion effect was defined as 1 — (intensity with lower locking field amplitude/intensity with higher locking field amplitude). T1ρ dispersion effects were higher for malignant than benign tumors (P = .001). With T1ρ dispersion effect . 14 as the threshold, sensitivity for detecting a malignant tumor was 91%, specificity was 77%, and accuracy was 83%. A strong correlation between T1ρ dispersion effects and SL effects and between T1ρ dispersion effects and MT effects in the head and neck tumors was found (r = .87, P < .001 and r = .90, P < .001, respectively). High T1ρ dispersion effects are not specific indicators of malignancy, because chronic infections, some benign tumors, and malignancies may overlap. Low T1ρ dispersion effect values are characteristic of a benign tumor.
La dyslexie à l’âge adulte : la persistance des difficultés orthographiques

Dans cet article, les resultats preliminaires d’une etude plus large sur la production textuelle des etudiants dyslexiques sont presentes. Les productions ecrites d’une vingtaine d’etudiants dyslexiques et controles sont analysees dans l’objectif de voir ce qu’il en est de la gestion de l’orthographe lexicale et grammaticale. En effet, lors d’analyses anterieures sur les memes populations, les etudiants dyslexiques se declarent en difficultes lorsqu’il s’agit de rediger un texte, et ce, que ce soit avec l’orthographe, la syntaxe ou l’organisation du texte lui-meme. Un bilan orthophonique et neuropsychologique confirme que les etudiants dyslexiques ont encore des difficultes avec l’orthographe, la lecture et qu’ils presentent un fonctionnement attentionnel atypique. Pour cette presente etude, il a ete demande aux etudiants dyslexiques et controles de produire un texte narratif et un expositif, a l’ecrit et a l’oral. Les versions ecrites, dont il est question dans cet article, ont ete collectees via le logiciel Eye and Pen© puis transferees dans CLAN permettant le codage de toutes les erreurs d’orthographe. Les resultats revelent que, si les etudiants dyslexiques et controles ont le meme pattern d’erreurs, les dyslexiques font significativement plus d’erreurs que les controles. Une etude qualitative montre que certaines erreurs recurrentes des etudiants dyslexiques ne sont jamais relevees dans les textes des etudiants controles. Les etudiants dyslexiques ont encore de reelles difficultes avec l’orthographe.
Benefits of magnetic resonance image scanning in progressive, bilateral, sensorineural hearing loss: a case of leptomeningeal haemosiderosis.

OBJECTIVE Magnetic resonance imaging is a routine investigation in cases of asymmetric sensorineural hearing loss, but it is not routinely used to investigate bilateral sensorineural hearing loss. METHOD This case report illustrates the benefits of magnetic resonance image scanning in the latter patient group. RESULTS A 53-year-old man with rapidly progressive, symmetrical, bilateral, sensorineural hearing loss was found also to have anosmia, imbalance and incoordination. Magnetic resonance image scanning demonstrated leptomeningeal haemosiderosis. Progressive, bilateral, sensorineural hearing loss is the most common presentation of this condition and magnetic resonance imaging is the diagnostic investigation of choice. CONCLUSION There are potential treatments for leptomeningeal haemosiderosis which prevent further irreversible damage, if a bleeding source can be found. Hearing loss may be due to cochlear or retrocochlear pathology. Cochlear implantation may be indicated.
Comparison of control methods for high-voltage high-power three-level half-bridge DC/DC converters

The present paper analyzes different three-level DC/DC converter control schemes. The main benefit of the three-level half-bridge inverter is the soft switching possibility without any additional components. A brief overview of different soft switching possibilities is given. Problems encountered and features are explained and simulated. An optimal solution for high input voltage (≥2 kV) and output power (≥20 kW) applications is proposed. The results are verified on a 50 kW prototype of the three-level half-bridge DC/DC converter.
The Effect of Calendula officinalis on Oxidative Stress and Bone Loss in Experimental Periodontitis

Periodontitis is associated with reduced antioxidant capacity and increased oxidative damage. Oxidative stress induces inflammation and bone loss contributing to the pathological progression of periodontal disease. Calendula officinalis (CLO) has demonstrated anti-inflammatory and anti-oxidant activities. Therefore, the aim of this study was to evaluate the effect of CLO on oxidative stress and bone loss in rats subjected to experimental periodontitis (EP). For this, 72 male Wistar rats were divided into groups: Naïve, Saline (SAL) and CLO. Rats received SAL or CLO (90 mg/kg) 30 min before ligature and daily until the 11th day. Naïve group experienced no manipulation. After 11 days, the animals were euthanized and left maxillae collected for macroscopic analysis of alveolar bone loss (ABL). Periodontium was analyzed by macroscopy, scanning electron microscopy; confocal and light polarized microscopy. Immunohistochemical examination of DKK1, WNT 10b and β-catenin was performed. The gingival tissue was collected to reduced glutathione (GSH), superoxide dismutase (SOD), catalase (CAT) and malondialdehyde (MDA) analyses. The 11 days of ligature induced bone loss, breakdown of collagen fibers, increased the immunostaining DKK-1 while reduced WNT 10b and β-catenin expressions. Periodontitis reduced GSH, SOD, CAT and increase MDA. All findings were reversed by 90 mg/kg of CLO. In summary our findings demonstrated that CLO reduced oxidative stress and bone loss and preserved collagen fibers in rats with EP, with participation of WNT signaling pathway.
Gaps in Optimal Care for Lung Cancer

Purpose: Lung cancer is the leading cause of cancer death in Australia, but little is known about how Australian patients with this disease are managed. Methods: Lung cancer patients diagnosed from November 1, 2001 to December 31, 2002 were identified through the population-based New South Wales Central Cancer Registry. Information was collected on diagnosis, staging, referrals, and treatment. Cross-tabulations and logistic regression examined factors related to not receiving cancer-specific therapy. Results: There were 2931 potentially eligible patients registered by the Central Cancer Registry and completed questionnaires were obtained for 1812 patients (62%); median age 71 years and 66% men. The pathology was non-small cell in 71%, small cell in 15% and not confirmed in 13% of patients. Eleven percent of patients did not see a lung cancer specialist and 33% received no cancer-specific therapy after initial diagnosis. Treatment utilization rates were 17% for surgery, 39% for radiotherapy, and 30% for chemotherapy. Factors significantly associated with having no cancer-specific therapy included female gender, older age, weight loss, poorer performance status, advanced or unknown disease stage, and consultation with a low patient volume lung cancer specialist or a non-lung cancer specialist. The median survival was 172 days and 2-year crude survival was 17%. Conclusions: Treatment patterns were in broad concordance with present national guidelines. Nevertheless, a significant proportion of lung cancer patients did not receive cancer-specific therapy. Treatment decisions should be multidisciplinary and decision-makers should include experienced lung cancer specialists.
The glucose clamp procedure activates the sympathetic nervous system even in the absence of hyperinsulinemia.

There is a well established connection between hyperinsulinemia and hypertension, and activation of the sympathetic nervous system (SNS) by insulin has been proposed as one mechanism. In short term infusion studies, hyperinsulinemia during the euglycemic glucose clamp examination is associated with increased norepinephrine concentration. However, many of the studies lack sufficient control groups. The euglycemic glucose clamp examination could possibly, by discomfort from iv cannulas, the use of heating cuffs, and prolonged immobilization, by itself increase SNS activity. To examine this, we included nine controls, who had saline instead of glucose and insulin infused iv, among other healthy young men (n = 50) who underwent the euglycemic hyperinsulinemic glucose clamp. During hyperinsulinemic clamp, the plasma norepinephrine concentration increased from 0.87 +/- 0.06 to 1.06 +/- 0.05 nmol/L; in the control study, it increased from 0.99 +/- 0.14 to 1.21 +/- 0.11 nmol/L, a significant treatment effect (P < 0.001, by repeated measures analysis of variance), but no group x treatment effect (P = 0.17), i.e. there was no difference between the groups. There were no significant changes in systolic or diastolic blood pressure, heart rate, or plasma epinephrine concentration during the clamps, nor any differences between the groups. We conclude that the increase in plasma norepinephrine concentration observed during an euglycemic glucose clamp examination may be attributed to the procedure itself, and that the inclusion of a control group is mandatory when assessing SNS activity.
Are low back pain and low physical capacity risk indicators for dropout among recently qualified eldercare workers? A follow-up study

Background: A high job turnover and dropout among eldercare workers has led to a significant shortage of qualified manpower in the Danish eldercare sector. Objectives: The predictive effect of some non-work-related causes for leaving the eldercare sector 2 years after qualification, physical capacity, duration, and severity of previous low back pain, was investigated. Design and setting: A 2-year prospective cohort study of all the Danish eldercare workers, who finished their education during 2004 (n = 6347). Questionnaire data from 2004 were followed up by register data on attachment to labour market, educational status, and association to trade from Statistics Denmark in 2006. Methods: Data on physical capacity, duration, and severity of low back pain the last 12 months among the female participants were analysed by multinomial logistic regression to estimate odds-ratios for being either in the eldercare sector, in other health- and welfare sectors, in all other sectors, under education, or outside labour market, 2 years after qualification. Results: Disability due to and duration of low back pain were significant predictors for dropout from the eldercare sector 2 years after qualification. Low physical capacity was not. Data on duration of low back pain suggest a trend towards a dose—response relationship: The longer the duration of low back pain, the higher odds for dropout. Conclusions: Low back pain and disability due to low back pain during the last year of education were independent predictors for dropout from the eldercare sector 2 years after qualification. However, low self-rated physical capacity did not predict job dropout or turnover.
Association between a frequent allele of the gene encoding OATP1B1 and enhanced LDL-lowering response to fluvastatin therapy.

INTRODUCTION Marked lowering of low-density-lipoprotein cholesterol (LDL-C) levels (< or =50%) with intensive statin therapy is associated with major reduction in cardiovascular risk, but is limited by a potential increase in adverse effects, thereby justifying optimization of LDL-C reduction with minimal risk. The organic anion transporting polypeptide-1B1 encoded by the SLCO1B1 gene is implicated as a major transporter in cellular uptake of statins, and notably fluvastatin. We postulated that genetic variation in SLCO1B1 might affect statin bioavailability, and might therefore influence drug response and potential adverse effects. MATERIALS & METHODS Elderly hypercholesterolemic subjects (n = 724), whose plasma lipid profile was determined before and 2 months after fluvastatin extended-release treatment (80 mg/day, n = 420), or placebo (n = 304), were genotyped for the most frequent nonsynonymous polymorphisms (SNP) in the SLCO1B1 gene (c.388A>G, c.463C>A and c.521T>C). RESULTS Due to linkage disequilibrium, only four alleles (*1b, *5, *14 and *15) of SLCO1B1 were detected in addition to the wild-type allele (*1a). The c.463A genotype, which was systematically associated with the c.388G SNP corresponding to the *14 allele was significantly associated with percentage LDL-C reduction from baseline (p = 0.005) and with mean post-treatment LDL-C values (p = 0.0005). Subjects homozygous for the c.463C genotype (n = 294) exhibited significantly less LDL-C reduction and higher post-treatment LDL-C levels (-31.5%, 138 mg/dl) relative to heterozygous C/A patients (-36.2%, 126 mg/dl; n = 111), and to homozygous A/A subjects (-41%, 115 mg/dl; n = 15). CONCLUSIONS These results reveal that OATP1B1 is implicated in the pharmacological action and efficacy of fluvastatin. Indeed, the common *14 allele, which is distinguished by the presence of the c.463C>A polymorphism, was associated with enhanced lipid-lowering efficacy in this study.