Miracle-dz/UniFAR-FTUs huggingface dataset:
Genetic heterogeneity of amyotrophic lateral sclerosis: Implications for clinical practice and research

Genetic insights into the pathophysiology of amyotrophic lateral sclerosis (ALS) are untangling the clinical heterogeneity that may contribute to poor clinical trial outcomes and thus to a lack of effective treatments. Mutations in a large number of genes, including SOD1, C9ORF72, TARDBP, FUS, VAPB, VCP, UBQLN2, ALS2, SETX, OPTN, ANG, and SPG11, are thought to cause ALS, whereas others, including ATAXN2, GRN, HFE, NEFH, UNC13A, and VEGF, appear to be disease‐modifying genes. Epigenetic influences may also play important roles. An improved understanding of ALS genetics should lead to better trial designs, insights into common molecular pathways, and better characterization of preclinical models. New genetic sequencing techniques, which use high‐throughput methods to assess variants across the genome or exome, may facilitate rational patient stratification for clinical trials and permit more individualized prognostic information and treatment decisions in clinical care. Muscle Nerve 49: 786–803, 2014
Stable and Tunable Single-Longitudinal-Mode Erbium-Doped Fiber Triple-Ring Laser With Power-Equalized Output

In this demonstration, we propose and investigate a stable and tunable single-longitudinal-mode (SLM) erbium-doped fiber (EDF) ring laser structure. Here, in order to achieve the SLM output, the “eye-type” triple-ring scheme is designed in this EDF laser to suppress the densely spaced longitudinal modes. In the measurement, the output power and optical-signal-to-noise ratio (OSNR) are between 8.35 and 8.92 dBm and 33.2 and 35.7 dB, respectively, in the wavelength range of 1530 to 1560 nm. The proposed EDF laser architecture not only has free tuning step but provides stabilized and flattened output power spectrum as well.
Dissipative phenomena in quark-gluon plasmas.

Transport coefficients of small-chemical-potential quark-gluon plasmas are estimated and dissipative corrections to the scaling hydrodynamic equations for ultrarelativistic nuclear collisions are studied. The absence of heat-conduction phenomena is clarified. Lower and upper bounds on the shear-viscosity coefficient are derived. QCD phenomenology is used to estimate effects of color-electric and -magnetic shielding, and nonperturbative antiscreening. Bulk viscosity associated with the plasma-to-hadron transition is estimated within the relaxation-time approximation. Finally, effects of dissipative phenomena on the relation between initial energy density and final rapidity density are estimated.
Role of Minority Populations of Human Immunodeficiency Virus Type 1 in the Evolution of Viral Resistance to Protease Inhibitors

ABSTRACT Human immunodeficiency virus type 1 (HIV-1) drug resistance results from the accumulation of mutations in the viral genes targeted by the drugs. These genetic changes, however, are commonly detected and monitored by techniques that only take into account the dominant population of plasma virus. Because HIV-1-infected patients harbor a complex and diverse mixture of virus populations, the mechanisms underlying the emergence and the evolution of resistance are not fully elucidated. Using techniques that allow the quantification of resistance mutations in minority virus species, we have monitored the evolution of resistance in plasma virus populations from patients failing protease inhibitor treatment. Minority populations with distinct resistance genotypes were detected in all patients throughout the evolution of resistance. The emergence of new dominant genotypes followed two possible mechanisms: (i) emergence of a new mutation in a currently dominant genotype and (ii) emergence of a new genotype derived from a minority virus species. In most cases, these population changes were associated with an increase in resistance at the expense of a reduction in replication capacity. Our findings provide a preliminary indication that minority viral species, which evolve independently of the majority virus population, can eventually become dominant populations, thereby serving as a reservoir of diversity and possibly accelerating the development of drug resistance.
Hantavirus infection.

H antavirus has attracted more and more attention as an emerging pathogenic virus in the past decades. It causes two distinct human diseases: Hemorrhagic fever with renal syndrome (HFRS) and human pulmonary syndrome (HPS). Reports on clinical entities possibly caused by hantaviruses in China and England backdate into the first millennium and the Middle Age, respectively (1,2). However, it lasted until 1951 to 1953 during the Korean War before hantaviruses found global attention. More than 3000 United Nations and US soldiers experienced an acute febrile illness with acute renal failure and shock and a mortality rate of 7% close to a small river called Hantaan (3,4; G. Schreiner, personal communication, Washington, 1993). The causative agent, Hantaan virus (HTNV), was identified in 1978 by Lee et al. (5). Until now, 21 different hantavirus species have been described, and more than 30 genotypes are characterized and can be found all over the world (6,7).
Olivopontocerebellar atrophy: Toward a better nosological definition

Olivopontocerebellar atrophy (OPCA) is a pathological label implying not only olivopontocerebellar changes, but also cases with more widespread lesions involving the CNS. This polytopic pathological background accounts for clinical complexity, essentially defined as cerebellar‐plus syndrome. The term “OPCA” is applicable to an increasing number of neurodegenerative syndromes, including autosomal dominant ataxia, complicated spastic paraplegia, multiple‐system atrophy (MSA), and many cases of idiopathic late‐onset cerebellar ataxia (ILOCA), some of whom also turn out to have MSA. OPCA may also be part of the pathological hallmark of other disorders, such as prion disorders, mitochondrial encephalomyopathies, and hereditary metabolic diseases. Sporadic OPCA and ILOCA with cerebellar‐plus presentation and neuroimaging evidence of brainstem and cerebellar atrophy may represent interchangeable eponyms. Just a quarter of such cases evolve to MSA within 5 years of the onset of symptoms. Therefore, the assumption that MSA and sporadic OPCA necessarily are one and the same disease is no longer tenable. Our review suggests that the label “OPCA” is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA. © 2006 Movement Disorder Society
Automated Segmentation of Folk Songs Using Artificial Neural Networks

Two different systems are introduced, that perform automated audio annotation and segmentation of Cypriot folk songs into meaningful musical information. The first system consists of three artificial neural networks (ANNs) using timbre low-level features. The output of the three networks is classifying an unknown song as âmonophonicâ or âpolyphonicâ. The second system employs one ANN using the same feature set. This system takes as input a polyphonic song and it identifies the boundaries of the instrumental and vocal parts. For the classification of the âmonophonic â polyphonicâ, a precision of 0.88 and a recall of 0.78 has been achieved. For the classification of the âvocal â instrumentalâ a precision of 0.85 and recall of 0.83 has been achieved. From the obtained results we concluded that the timbre low-level features were able to capture the characteristics of the audio signals. Also, that the specific ANN structures were suitable for the specific classification problem and outperformed classical statistical methods.
Short-circuit dissipation of static CMOS circuitry and its impact on the design of buffer circuits

A simple formula is derived for quick calculation of the maximum short-circuit dissipation of static CMOS circuits. A detailed discussion of this short-circuit dissipation is given based on the behavior of the inverter when loaded with different capacitances. It was found that if each inverter of a string is designed in such a way that the input and output rise and fall times are equal, the short-circuit dissipation will be much less than the dynamic dissipation (<20%). This result has been applied to a practical design of a CMOS driving circuit (buffer), which is commonly built up of a string of inverters. An expression has also been derived for a tapering factor between two successive inverters of such a string to minimize parasitic power dissipation. Finally, it is concluded that optimization in terms of power dissipation leads to a better overall performance (in terms of speed, power, and area) than is possible by minimization of the propagation delay.
A comparison of measles and canine distemper virus polypeptides.

The polypeptides induced by canine distemper virus (CDV) strains have been characterized by polyacrylamide slab gel electrophoresis of infected cell lysates labelled with 35S-methionine, 14C-amino acids, 3H-glucosamine and 3H-mannose, or 32P-orthophosphate. Seven virus-induced polypeptides have been asigned the following nomenclature and mol. wt. : a large polypeptide L (180,000); a large glycoprotein G (77,000); a nucleocapsid-associated protein P (73,000); the nucleocapsid protein N (60,000); the smaller glycoprotein F0 (59,000); a membrane protein M (35,000) and a small polypeptide S (15,000). During pulse-chase experiments with 3H-glucosamine and 14C-amino acids the intensity of the F0 band decreases and that of the F1 and F2 bands increases; the H polypeptide band becomes more diffuse and the S-protein disappears. The N- and P- but not the M-proteins have been found to be phosphorylated. The polypeptide pattern of the Onderstepoort strain of CDV has been compared with that of two other CDV and with 17 measles and subactue sclerosing panencephalitis (SSPE) strains. Differences in the mobilities of various polypeptides have been observed between CDV and measles and SSPE strains; however, the only consistent difference is the mol. wt. of the M-protein of CDV strains which is smaller by 2000 than that of MV and this may be a biochemical marker to distinguish CDV from measles and SSPE virus strains.
Hearing loss and handicap of professional soldiers exposed to gunfire noise.

OBJECTIVES The aim of the study was to investigate the prevalence and degree of hearing loss and other disabling consequences of noise among professional soldiers. METHODS A cross-sectional audiometric survey was combined with a questionnaire study on disabilities in a stratified random sample of 699 army officers (mean age 39.8 years) with long-term exposure to gunfire noise. RESULTS In 224 (32%) officers, the hearing threshold was found to be 20 dB or less at all of the frequencies measured (0.5, 1, 2, 3, 4, 6, and 8 kHz). Most of the 475 (68%) subjects with hearing loss belonged to older age categories, but more than one-fourth (26%) of the officers under 30 years of age had a hearing loss. Low frequencies were deteriorated in 110 (16%) subjects. The average of the hearing threshold levels of the frequencies 2 and 4 kHz exceeded 20 dB in 229 (33%) officers. For 347 (49.6%) subjects hearing was normal for their age. The degree of age-corrected hearing loss, especially at low frequencies, correlated highly significantly with exposure. Altogether 220 (32%) men experienced tinnitus, 118 (17%) of them continuously. Tinnitus was the most common among the men with severe or disabling hearing loss. Twenty-four (3.4%) of 699 officers needed sound amplification in noisy environments. CONCLUSIONS The prevalence of hearing loss in the Finnish Defence Forces seems to have decreased, but a fairly large number of younger men still suffer considerable hearing loss and disabling tinnitus, although the use of hearing protectors has substantially increased during the past 15 years. Most of the subjects experienced communication difficulties in noisy environments.
Puberty in perinatal HIV-1 infection: a multicentre longitudinal study of 212 children

Objective To define age at entry into Tanner stages in children with perinatal HIV-1 infection. Design Multicentre longitudinal study including 212 perinatally HIV-1-infected children (107 girls and 105 boys) followed-up during puberty (from 8 and 9 years onwards in girls and boys, respectively). Healthy children (843 girls and 821 boys) provided reference percentiles. P2 or B2 stages in girls and P2 or G2 stages in boys defined onset of puberty. Methods The cumulative probability [95% confidence limit (CI)] of entry into each stage at different ages was estimated by the Kaplan–Meier product-limit method; differences were evaluated by log rank test. Relationships were tested using the Spearman's rank correlation coefficient. Results Ages of girls [years (95%CI)] at P2 [12.9 (12.6–13.2)], P3 [13.4 (13.0–13.8)], P4 [14.6 (14.0–15.2)], B2 [12.7 (12.2–13.2)], B3 [13.3 (12.8–14.0)] and B4 [14.6 (14.0–15.2)] stages were > 97th percentile (⩾ 21 month delay) of controls. Ages of boys [years (95%CI)] at P2 [12.6 (12.1–13.1)], P3 [13.9 (13.4–14.4)], P4 [14.9 (14.2–15.6)], G2 [12.1 (11.5–12.7)], G3 [13.6 (13.1–14.1)] and G4 [14.9 (14.1–15.7)] stages were at the 75–97th percentiles (⩽ 15 month delay). Age at onset of puberty was not related to clinical and immunological condition, antiretroviral treatment, weigh for height and age at onset of severe disease or immune suppression. Conclusion Perinatal HIV-1 infection interferes with sexual maturation. The mechanisms by which this occurs should be elucidated and intervention strategies designed. Intervention could save much psychological distress, since associated linear growthfailure can exacerbate adolescents’ feelings of being different and unwell.
Hepatocyte growth factor, keratinocyte growth factor, and other growth factor-receptor systems in the lens.

PURPOSE To examine the expression and function of hepatocyte growth factor (HGF), keratinocyte growth factor (KGF), epidermal growth factor (EGF) and other growth factor-cytokine-receptor systems in lens epithelial cells. METHODS Reverse transcription-polymerase chain reaction (RT-PCR) and Northern blot analysis were used to examine the expression of messenger RNAs in primary cultured rabbit and human lens cells and in ex vivo rabbit lens tissue. Protein expression and the effect of HGF and KGF on crystallin expression in lens epithelial cells were evaluated by immunoprecipitation and Western blot analysis. The effect of exogenous HGF, KGF, and EGF and of the coculture of lens epithelial cells with corneal endothelial cells on the proliferation of rabbit lens cells in a Transwell system was determined by cell counting. RESULTS Messenger RNAs and proteins of HGF and KGF were expressed in primary rabbit lens epithelial cells and in ex vivo rabbit lens epithelial tissue. Human lens cells also expressed the mRNAs. Other growth factors and receptor messenger RNAs were also expressed. Hepatocyte and keratinocyte growth factors, and coculture with corneal endothelial cells stimulated proliferation of rabbit lens epithelial cells. In first-passage rabbit lens cells, HGF, KGF, and EGF increased the expression of alpha and beta crystallins. CONCLUSIONS Hepatocyte and keratinocyte growth factor-receptor systems are expressed in lens cells. HGF and KGF are not expressed in epithelial cells in such tissues as skin, cornea, and lacrimal gland in which fibroblastic and epithelial cells interact in the formation of an organ. Expression of these growth factors in the lens may have evolved because the lens cells are relatively isolated within the anterior chamber of the eye. Our results suggest, however, that growth factors released by the corneal endothelium also could modulate lens functions (aquecrine interactions).
Evaluation of rate-distortion functions for a class of independent identically distributed sources under an absolute-magnitude criterion

The explicit evaluation of the rate-distortion function R(D) for continnous-amplitude sources when it is strictly greater than its Shannon lower bound has been previously considered a formidable task. This is the case for independent identically distributed (i.i.d.) Gaussian sources under an absolute-magnitude distortion criterion. In this paper, we provide a method that yields the explicit evaluation of R(D) for this case. This method is then shown to be applicable to the evaluation of the absolute-magnitude-criterion R(D) for a large class of i.i. d, sources having probability densities with constrained tail decay. Other applications are discussed.
Fatal methyl bromide poisoning.

Methyl bromide was commonly used in fire extinguishers in aircraft engines and in submarines during the second world war. Now it is widely used as a fumigant insecticide in grain stores. ' 2 Mortality after intoxication by methyl bromide vapour may be high,' and is often associated with convulsions, usually resistant to standard anticonvulsant chemotherapy. ' s We wish to draw attention to the continuing risk of exposure to methyl bromide and offer fresh suggestions regarding the clinical management of severe methyl bromide poisoning.
The hands-on orthopaedic robot "acrobot": Early clinical trials of total knee replacement surgery

A "hands-on" robotic system for total knee replacement (TKR) surgery is presented. A computer tomography-based preoperative planning software is used to accurately plan the procedure. Intraoperatively, the surgeon guides a small special-purpose robot, called Acrobot, which is mounted on a gross positioning device. The Acrobot uses active constraint control, which constrains the motion to a predefined region, and thus allows the surgeon to safely cut the knee bones to fit a TKR prosthesis with high precision. A noninvasive anatomical registration method is described. The system has been successfully used in seven clinical trials with encouraging results.
Iterative turbo equalization technique to countervail fiber optic transmission impairments

The performance of turbo-codes relies on two major concepts: code concatenation so as to build a powerful global code and iterative decoding in order to efficiently approximate the optimal decoding process. A turbo equalization (TE) scheme based on convolutional code and normalized least mean square equalizer for coherent optical communication links is proposed and experimentally demonstrated. For counteracting PDM 16 QAM impairments in dispersion uncompensated coherent transmission links, the iterative TE technique is proved effective.
Cancer mortality by occupation among New Zealand women: 1988-1997.

AIM To examine cancer mortality by occupation among New Zealand women, 1988-1997. METHOD Proportional mortality ratios (PMRs) were calculated for the six most common general occupations among women: clerical workers, health professionals, teachers, farmers, cleaners and textile workers. Age groups examined were those aged 20-59 and those > or =20 years. Data on occupation was obtained from death certificates. RESULTS From 1988-1997, annually 12-54% of women had a codeable occupation on their death certificate, leaving 3079 deaths among women 20-59 years, and 7236 in those > or =20 years for analysis. Leukaemia was significantly increased in health professionals aged > or =20 years (PMR=1.52; 95% CI: 1.08-2.09, n=38). In nurses alone, the PMR for leukaemia was 1.42; 95% CI: 0.96-2.01, n=31). CONCLUSION This study represents the first systematic examination of cancer mortality by occupation among women in New Zealand. These data should be examined routinely as part of regular surveillance of occupational cancer among women. Avenues for further research identified particularly include an analytical study of leukaemia and other cancers among female health professionals.
Influence Of Transformational Leadership Role On Performance Of Virtual Project Teams In Safaricom Limited

The main objective of the study was to establish the influence of transformational leadership styles on virtual team project performance in Safaricom Company limited. The study adopted descriptive design. The target population was 78 staff working in public TelePresence and Digital City projects in Safaricom Company Limited. Since the study population was small 78 staff, the study conducted a census survey. The data was gathered using questionnaires to collect both quantitative and qualitative information from the respondents. The quantitative data was analyzed using SPSS. The descriptive statistics, mean scores, standard deviations and percentages were used to analyze quantitative data. Qualitative data were analyzed using conceptual content analysis. Further inferential statistics such as correlation and regression were done. Correlation analysis was used to establish the strength of association between variables and regression analysis was done to established relationship between transformational leadership role and virtual team performance in Safaricom Company. Virtual team project performance success was determined by how leaders inspired team member to deliver a project to the agreed scope, time, cost and quality while maintaining a relationship and
Validation of a new method for the diagnosis of rotor bar failures via wavelet transformation in industrial induction machines

In previous works, the authors proposed a novel method for the diagnosis of rotor bar failures in induction machines, based on the analysis of the startup stator current through the discrete wavelet transform (DWT). In those works the physical basis of the method was described and several verifications were done in order to confirm its validity. These verifications were satisfactory, but they were based on numerical simulations and on several tests that were developed using a laboratory machine, with certain particular constructive characteristics, different from those of the commercial motors. In the paper to be presented, the validity of the new diagnosis method is checked using a set of commercial induction motors. Several experiments are developed under different cases (healthy machine and machine with different levels of failure) and operating conditions (no load, full-load, pulsating load and fluctuating voltage). In each case, the results are compared with those obtained using the classical approach, based on the analysis of the steady-state current using the Fourier transform. Finally, the results are discussed and some considerations about the influence of the DWT parameters (type of mother wavelet, order of the mother wavelet, sampling rate or number of levels of the decomposition) over the diagnosis are done.
Der Kampf um die Fristenlösung in der Schweiz : ein Lehrstück konkordanzdemokratischer Überforderung

Streng dem Gesetz nach gilt in der Schweiz als reichstem westeuropaischen Land eine der restriktivsten Regelungsformen zum Schwangerschaftsabbruch in den OECD-Staaten. Gemas dem Strafgesetzbuch vom 1. Januar 1942 ist die Unterbrechung einer Schwangerschaft grundsatzlich untersagt. Eine Ausnahme bildet der medizinisch indizierte Eingriff als Spezialfall der gerechtfertigten Notlage. Trotz intensiver Reformbemuhungen und zahlreicher Versuche einer Neufassung gelang in den letzten sechzig Jahren keine Abkehr von der bestehenden Rechtslage. Dieser Beitrag versucht, die Ursachen fur die hohe Policy-Stabilitat zu erklaren, indem die Etappen des langen Kampfes um die Liberalisierung der Abtreibungsartikel rekonstruiert werden. Dabei stutzt sich die Untersuchung auf den Advocacy-Koalitionsansatz von Paul Sabatier und der institutionellen Theorie der Vetospieler von George Tsebelis. Mit dieser Vorgehensweise soll einerseits die dem schweizerischen Sonderfall zu Grunde liegenden Bedingungen aufgedeckt - also Politikvariation im internationalen Vergleich erklart -, andererseits soll der Policywandel in dynamischer Perspektive erfasst - d.h. der Reformprozess im Langsschnitt - rekonstruiert werden.