Miracle-dz/UniFAR-FTUs huggingface dataset:
APECED mutations in the autoimmune regulator (AIRE) gene

Autoimmune polyendocrinopathy candidiasis‐ectodermal dystrophy (APECED) is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addison’s disease, hypoparathyroidism, and type 1 diabetes. The AIRE protein contains motifs suggestive of a transcription regulator and can activate transcription of a reporter gene when fused to a heterologous DNA biding domain. In this article, mutation analyses of over 200 APECED patients published by several laboratories are summarized. To date 42 different mutations have been identified. These mutations include nonsense and missense mutations, small insertions and deletions leading into frame shifts, and splice site mutations. Although mutations are spread throughout the coding region of the gene some hotspots emerge, including the more common and recurrent mutations R257X and 967‐979del13bp. Some of the identified mutations have been shown to affect subcellular localization or transactivation properties of the protein, thus providing insights into the functional properties of the predicted protein motifs. Hum Mutat 18:205–211, 2001. © 2001 Wiley‐Liss, Inc.
Heuristic Numerical Work in Some Problems of Hydrodynamics

Tt is well known that in many problems of hydrodynamics one cannot, at the present time, obtain valid solutions in a closed form. The asymptotic behavior of the solutions and even more generally their qualitative properties are barely obtainable through analytical work alone. This is even true of some problems which are already highly schematized by neglecting various physical parameters, like the change in the equation of state in a fluid or gas during its motion. One proceeds in numerical computations with the continuum of the fluid replaced by a finite network of discrete points, and ihus replaces the partial differential equations by a system of difference equations. The time variable, too, is replaced by a discrete succession of steps in time. This is the usual procedure in solving initial value problems which do not yield to analytical methods. In recent years the advent of electronic computing machines introduced the possibility of large scale experimentation in calculation of problems in more than one dimension. It is the purpose of the following discussion to outline some general properties of such numerical work and to propose several different methods for numerical computations. Some numerical work already performed will be discussed in the sequel; it dates from 1952, when the authors first applied such computations on electronic computing machines. More recently, F. Harlow [11 has applied similar methods to calculations performed on electronic machines in Los Alamos. With the constant improvement in electronic computers, both as regards their speed and the size of the memory, it will be possible to perform more ambitious calculations; both the variety and the magnitude of the problems which can be handled will increase. Such calculations can play a role analogous to that of experiments in physics and may suggest new theoretical lines of attack. There are, broadly speaking, at least two different ways to approach numerically the problems dealing with the dynamical behavior of continua. The kinetic theory of gases assumes the physical reality of the discontinuum. One calculates the properties in the large of the motion of N "points"-atoms or molecules which have statistically given velocity distributions and are subject to incessant collisions with each other. There are forces acting between these points, e.g., deriving from potentials, but whose form is only imperfectly known. Many, but not all, properties of the macroscopic motions are largely independent of the exact form of the interactions between these particles. This is not the place to enter into a description of the way to derive the hydrodynamical equations from the Boltzmann integral-differential equations describing the microscopic behavior of such systems. Suffice it to say that, e.g., Navier-Stokes equations can be so derived and they will describe the behavior of certain statistical averages (or functionals on the 6N dimensional space) which are interpreted as macroscopic quantities like density, pressure and velocity, of a point in space (three dimensions) as functions of time.
Chlorhexidine Hypersensitivity: A Critical and Updated Review

Chlorhexidine is a synthetic bis-biguanide widely used as disinfectant in medical and surgical fields, highly appreciated for its efficacy, microbicide properties and low costs. Unfortunately, Chlorhexidine can be responsible for hypersensitivity reactions (from contact dermatitis to life-threatening anaphylaxis) but its role as allergen, often complicating a perioperative or anesthetic session, is still undervalued and misdiagnosed. In the lights of the most recent studies and case reports published, hereby we have comprehensively reviewed the main aspects of Chlorhexidine hypersensitivity, including, pathway of sensitization, cross-reactivity and new diagnostic laboratory tools.
Analysis of human papillomavirus types in exophytic condylomata acuminata by hybrid capture and Southern blot techniques

Exophytic condylomata acuminata of the external genitalia of 40 patients were analyzed for human papillomavirus (HPV) DNA by the Southern blot and hybrid capture methods. All lesions were initially analyzed by the Southern blot method by using a mixture of HPV type 6, 11, 16, and 18 whole genomic probes. Southern blots demonstrated characteristic PstI restriction patterns of HPV type 6, 11, or 16 in all but one lesion. HPV 6 subtypes accounted for 28 of 39 HPV-positive lesions. Twenty-seven of these 28 lesions contained HPV type 6a, and 1 lesion contained HPV type 6c. Eight lesions contained HPV type 11 and three contained HPV type 16. Two of the three condylomata acuminata containing HPV type 16 were obtained from solid-organ transplant recipients receiving immunosuppressive medications. The third lesion containing HPV type 16 was a typical exophytic condyloma acuminatum from a woman with previously resected vulvar carcinoma. The hybrid capture assay detected HPV DNAs in all lesions except the Southern blot-negative lesion. Twenty-five lesions were positive for the A probe only (HPV types 6 and 11 and related types). All of these lesions were found to contain HPV type 6 or 11 sequences in the Southern blot assay. The remaining 14 lesions were positive for both the A probe and the B probe (HPV types 16 and 18 and related types). The strongest signal in these 14 lesions by the hybrid capture assay was consistent with the result of the Southern blot assay in all but one case. We conclude that (i) HPV type 6a is the most common type found in these lesions, (ii) HPV type 16 may be present more often in exophytic condylomata acuminata from immunosuppressed individuals, (iii) hybrid capture is a useful tool for documenting the presence of HPV sequences in DNAs from exophytic condylomata acuminata, and (iv) in samples containing multiple HPV types, hybrid capture allows detection of minority HPV types.
Effects of vocoder distortion on network echo cancellation

In packet based telephone networks, if there are vocoders in the echo path, due to vocoder distortion, the performance of the echo canceller is degraded. The paper proposes a simulation model to study the effects of vocoder distortion on the performance of echo cancellers. The normalized least mean square (NLMS), the fast transversal filter (FTF) and the fast affine projection (FAP) algorithms are used for the echo canceller. Simulation results show that the vocoders cause significant degradation in echo return loss enhancement (ERLE), and FAP performs the best among the three algorithms.
Inhibiting DNA-PKcs in a non-homologous end-joining pathway in response to DNA double-strand breaks

DNA-dependent protein kinase catalytic subunit (DNA-PKcs) is a distinct factor in the non-homologous end-joining (NHEJ) pathway involved in DNA double-strand break (DSB) repair. We examined the crosstalk between key proteins in the DSB NHEJ repair pathway and cell cycle regulation and found that mouse embryonic fibroblast (MEF) cells deficient in DNA-PKcs or Ku70 were more vulnerable to ionizing radiation (IR) compared with wild-type cells and that DSB repair was delayed. γH2AX was associated with phospho-Ataxia-telangiectasia mutated kinase (Ser1987) and phospho-checkpoint effector kinase 1 (Ser345) foci for the arrest of cell cycle through the G2/M phase. Inhibition of DNA-PKcs prolonged IR-induced G2/M phase arrest because of sequential activation of cell cycle checkpoints. DSBs were introduced, and cell cycle checkpoints were recruited after exposure to IR in nasopharyngeal carcinoma SUNE-1 cells. NU7441 radiosensitized MEF cells and SUNE-1 cells by interfering with DSB repair. Together, these results reveal a mechanism in which coupling of DSB repair with the cell cycle radiosensitizes NHEJ repair-deficient cells, justifying further development of DNA-PK inhibitors in cancer therapy.
HMM-Based Voice Conversion Using Quantized F0 Context

We propose a segment-based voice conversion technique using hidden Markov model (HMM)-based speech synthesis with nonparallel training data. In the proposed technique, the phoneme information with durations and a quantized F0 contour are extracted from the input speech of a source speaker, and are transmitted to a synthesis part. In the synthesis part, the quantized F0 symbols are used as prosodic context. A phonetically and prosodically context-dependent label sequence is generated from the transmitted phoneme and the F0 symbols. Then, converted speech is generated from the label sequence with durations using the target speaker's pre-trained context-dependent HMMs. In the model training, the models of the source and target speakers can be trained separately, hence there is no need to prepare parallel speech data of the source and target speakers. Objective and subjective experimental results show that the segment-based voice conversion with phonetic and prosodic contexts works effectively even if the parallel speech data is not available.
Non-Abelian geometric phase and long-range atomic forces.

It is shown how gauge fields, or geometric phases, manifest as observable effects in both bound and free diatom systems. It is shown that, in addition to altering energy splittings in bound systems, geometric phases induce transitions in levels separated by a finite-energy gap. An example is given where the non-Abelian gauge field couples nondegenerate electronic levels in a diatom. This gauge-field coupling gives rise to an observable effect. It is shown that when the diatom is 'pulled apart', the non-Abelian geometric phase manifests as a long-range atomic force.
Primary Resistance and Antibiotic Minimum Inhibitory Concentrations for Helicobacter pylori Strains in Split, Croatia

Helicobacter pylori infection is now accepted as the most common cause of gastritis and is etiologically involved in gastric ulcer, duodenal ulcer, gastric adenocarcinoma, and primary gastric B-cell lymphoma. H. pylori-related diseases are among the most prevalent in the world 1. Worldwide, the most frequently prescribed therapy is a triple therapy consist ing of a proton pump inhibitor and clarithromycin and amoxicillin 2. The resistance of H. pylori isolates to antibiotics causes eradication treatment failure. Experience has proven that if one course of therapy fails, the surviving organisms are or have become resistant to the key drug (eg, metronidazole or clarithromycin) 3,4 . Clarithromycin resistance is growing problem, although not yet as common as metronidazole resistance. Resistance to one macrolide is associated with cross-resistance to other macrolides 3. Azithromycin is a new generation acid stabile macrolide that develops the highest concentration of this class of antibiotics in gastric tissue and mucus 5-7. Amoxicillin resistance has been described but apparently is still rare 4. The aim of this study was to determine the primary resistance of H. pylori strains isolated at University Hospital Split to amoxicil l in, clarithromycin, azithromycin, and metronidazole. Because of the wide use of the azithromycin instead of clarithromycin in eradication treatment of H. pylori in our country, we analyzed differences in in vitro activity of those antibiotics. Journal of Chemotherapy Vol. 18 n. 4 (437-439) 2006
Measuring Illness beliefs in neurodegenerative disease: Why we need to be specific

Positive perceptions of illness are typically associated with good health outcomes. However, this may not be true for all domains of illness perception in neurodegenerative diseases because of their progressive incurable nature. The appropriateness of current measures of illness belief in these conditions is not known. The validity and reliability of the Illness Perception Questionnaire–Revised was evaluated in 215 participants with Parkinson’s disease. A confirmatory factor analysis supported the structure of the Illness Perception Questionnaire–Revised with the exception of the treatment control domain. It is important to consider the nature of neurodegenerative diseases and limits of symptom control when planning interventions.
The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

We report on two patients with overlapping small interstitial deletions involving regions 14q12 to 14q13.1. Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing of the eyes, epicanthal folds, sloping forehead, low‐set ears, rounded eyebrows with triangular media aspect and outer tapering, depressed and broad nasal bridge, small mouth, a long philtrum, and a prominent Cupid's bow. Brain MRI of both children showed partial agenesis of the corpus callosum. Our first patient had bilateral hypoplastic optic nerves causing blindness, mild hearing impairment, sinus arrhythmia, abnormal temperature regulation, frequent apneic episodes, myoclonic jerks, and opisthotonus. Our second patient had a seizure disorder confirmed by EEG, sleep apnea, chronic interstitial lung disease, and several episodes of pneumonia and gastroenteritis. Cytogenetic analysis showed a normal karyotype in Patient 1 and a unique apparently balanced three‐way translocation in Patient 2 involving chromosomes 4, 14, and 11. High resolution SNP Oligonucleotide Microarray Analysis (SOMA) revealed a deletion in the proximal region of chromosome 14q overlapping with the deletion of our first patient, and no copy number changes in chromosomes 4 and 11. Here, we review and compare published cases with a deletion involving the 14q12‐22.1 chromosomal region in an effort to correlate phenotype and genotype. We also examine the underlying genomic architecture to identify the possible mechanism of the chromosomal abnormality. Our review found a patient with a mirror duplication of our first patient's deletion, confirming the existence of an underlying genomic structural instability in the region. © 2011 Wiley‐Liss, Inc.
DIABETIC STUDIES The Review of C-Peptide in the Vessel Wall

Patients with insulin resistance and early type 2 diabetes exhibit an increased sensitivity to develop a diffuse and extensive pattern of arteriosclerosis leading to a remarkable increase in vascular complications, including myocardial infarction and stroke. The accelerated atherosclerosis in these patients is likely to be multifactorial. In this review, we introduce the new hypothesis that C-peptide could play a role as a mediator of lesion development. Patients with type 2 diabetes show increased levels of the proinsulin cleavage product C-peptide, and in the past few years, various groups have examined the effect of C-peptide in vascular cells as well as its potential role in lesion development. Recent data suggest that C-peptide deposits in the vessel wall could promote the recruitment of monocytes and CD4-positive lymphocytes in early arteriosclerotic lesions. Furthermore, C-peptide induces proliferation of vascular smooth muscle cells, a critical step in atherogenesis and restenosis formation. The present review summarizes this new pathophysiological aspect and discusses the potential relevance for lesion development.
Cardioprotection by epsilon-protein kinase C activation from ischemia: continuous delivery and antiarrhythmic effect of an epsilon-protein kinase C-activating peptide.

BACKGROUND We previously showed that a selective activator peptide of epsilon-protein kinase C (PKC), psi(epsilon)RACK, conferred cardioprotection against ischemia-reperfusion when delivered ex vivo before the ischemic event. Here, we tested whether in vivo continuous systemic delivery of psi(epsilon)RACK confers sustained cardioprotection against ischemia-reperfusion in isolated mouse hearts and whether psi(epsilon)RACK treatment reduces infarct size or lethal arrhythmias in porcine hearts in vivo. METHODS AND RESULTS After psi(epsilon)RACK was systemically administered in mice either acutely or continuously, hearts were subjected to ischemia-reperfusion in an isolated perfused model. Whereas psi(epsilon)RACK-induced cardioprotection lasted 1 hour after a single intraperitoneal injection, continuous treatment with psi(epsilon)RACK induced a sustained preconditioned state during the 10 days of delivery. There was no desensitization to the therapeutic effect, no downregulation of epsilonPKC, and no adverse effects after sustained psi(epsilon)RACK delivery. Porcine hearts were subjected to ischemia-reperfusion in vivo, and psi(epsilon)RACK was administered by intracoronary injection during the first 10 minutes of ischemia. psi(epsilon)RACK treatment reduced infarct size (34+/-2% versus 14+/-1%, control versus psi(epsilon)RACK) and resulted in fewer cases of ventricular fibrillation during ischemia-reperfusion (87.5% versus 50%, control versus psi(epsilon)RACK). CONCLUSIONS The epsilonPKC activator psi(epsilon)RACK induced cardioprotection both in vivo and ex vivo, reduced the incidence of lethal arrhythmia during ischemia-reperfusion, and did not cause desensitization or downregulation of epsilonPKC after sustained delivery. Thus, psi(epsilon)RACK may be useful for patients with ischemic heart disease. In addition, the psi(epsilon)RACK peptide should be a useful pharmacological agent for animal studies in which systemic and sustained modulation of epsilonPKC in vivo is needed.
Guided Motor Imagery in Healthy Adults and Stroke: Does Strategy Matter?

Background. Motor imagery (MI) enhances physical performance and skill acquisition in healthy and neurorehabilitation populations, yet little is known about the use of strategies to guide MI. Objectives. To examine the relative effectiveness of visual, auditory, and combined (visual + auditory) cueing of an imagined finger abduction task on corticomotor excitability. Methods. A total of 15 young (20-35 years) and 15 older people (over 55 years) and 10 people with chronic stroke, who could make voluntary movements of selected muscles, participated. Motor evoked potentials (MEPs, primary outcome) were measured following transcranial magnetic stimulation applied while participants imagined abducting their index finger under guidance of cueing strategies. Amplitudes of the MEPs from the first dorsal interosseous (FDI), abductor pollicis brevis (APB), and abductor digiti minimi (ADM) muscles were compared with rest, contrasted with MEPs elicited during active task performance, and expressed relative to rest to reflect facilitation. Results. Cued MI enhanced MEPs in all groups, preferentially to the target FDI muscle. In stroke, APB was also facilitated. ADM was least affected by cueing. Analyses of simple effects of condition on FDI MEPs in each group revealed that visual cueing was most effective in young people, whereas auditory cueing was most effective in healthy older people and when directed at the nonparetic side in stroke ( P < .04). On the paretic side, strategies were equally effective. In all cases, MEPs were largest during physical performance. Conclusions. Cued MI augments corticomotor excitability associated with healthy and paretic muscles related to the imagined task. Age should be considered when selecting a cueing strategy for maximum effectiveness.
Shortcut Nitrification and ANAMMOX Combined Process for Autotrophic Ammonia Removal

The shortcut nitrification was realized in a sequencing batch reactor (SBR) when the temperature and pH value were controlled at 28~30degC and 7.8~8.1. The nitrogen removal loading reached 0.129 kg NH 4 + -Nldrkg -1 VSSldrd -1 by increasing the influent ammonia concentration. More than 85% of the nitrite accumulative efficiency was achieved and the ratio of ammonium oxidation bacteria to nitrite oxidation bacteria was 10 3 : 1. To match the effluent nitrite concentration of the SBR, the influent ammonia concentration in anaerobic rotating biological contactor was increased from 80 mg I -1 to 218 mg I -1 . Both shortcut nitrification and ANAMMOX process ran steadily when they were combined for autotrophic ammonia removal. The removal efficiency and the removal loading rate of the ammonia reached 85% and 0.133 kg NH 4 + -N kg -1 VSS d -1 in the SBR. 86% of ammonia removal efficiency, 97% of nitrite removal efficiency and 90% of TN removal efficiency were achieved and the nitrogen loading rate reached 0.488 kg TN m -3 day -1 .
Mre11-Rad50-Nbs complex is required to cap telomeres during Drosophila embryogenesis

Using Drosophila as a model system, we identified here a stringent requirement for Mre11-Rad50-Nbs (MRN) function in telomere protection during early embryonic development. Animals homozygous for hypomorphic mutations in either mre11 or nbs develop normally with minimal telomere dysfunction. However, they produce inviable embryos that succumb to failure of mitosis caused by covalent fusion of telomeric DNA. Interestingly, the molecular defect is not the absence of MRN interaction or of Mre11 nuclease activities, but the depletion of the maternal pool of Nbs protein in these embryos. Because of Nbs depletion, Mre11 and Rad50 (MR) are excluded from chromatin. This maternal effect lethality in Drosophila is similar to that seen in mice carrying hypomorphic mrn mutations found in human patients, suggesting a common defect in telomere maintenance because of the loss of MRN integrity.
Semiconductor Radiation Detectors

The past decade has seen the rapid development and exploitation of one of the most significant tools of nuclear physics, the semiconductor radiation detector. Applications of the device to the analysis of materials promises to be one of the major contributions of nuclear research to technology, and may even assist in some aspects of our environmental problems. In parallel with the development of these applications, further developments in detectors for nuclear research are taking place: the use of very thin detectors for heavyion identification, position-sensitive detectors for nuclear-reaction studies, and very pure germanium for making more satisfactory detectors for many applications suggest major future contributions to physics.