Miracle-dz/UniFAR-FTUs huggingface dataset:
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population.

PURPOSE To study the clinical, radiologic, and genetic features in Indian Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) patients. METHODS A total of 33 clinically well characterized BPES cases who presented between 2009 to 2011 were recruited. Clinical evaluation consisted of ophthalmic and orthoptic examination. For orbital indices, computed tomography (CT) scan of orbits was performed. Genetic studies included cytogenetic analysis and molecular analysis of FOXL2 gene. RESULTS Significant clinical findings included a high incidence of refractive error in 94%, amblyopia in 60%, and strabismus in 40% of BPES cases. Orbital radiologic indices on CT scan in BPES were found to be comparable to the control group. On karyotyping, 8 out of 33 (24%) cases harbored chromosomal abnormalities. These abnormalities included 46,XY;del(3qter), 46,XY;del(3q26.3), 46,XX;del(3q24-25), and 46,XY;del(3q26qter). On molecular analysis, a novel mutation consisting of heterozygous substitution at c1635 that replaced cytosine by thymidine was detected. CONCLUSIONS To the best of our knowledge, this is the first study on clinical features in BPES patients of Indian origin. A high incidence of refractive error, strabismus, and amblyopia was found in BPES cases. Orbital imaging confirmed that clinical features are limited to soft tissue abnormalities, with no underlying bony changes. Cytogenetic studies showed that most chromosomal abnormalities in the Indian population are in the region of the long arm of chromosome 3. Results of molecular analysis indicate that there may be loci other than the FOXL2 gene, which are affected in BPES cases. Our study expands the existing mutation spectrum of FOXL2 gene.
Glutathione and α‐lipoate in diabetic rats: nerve function, blood flow and oxidative state

Background Increased oxidative stress is considered to be a causal factor in the development of diabetic complications, among which peripheral neuropathy. The pathophysiology of nerve dysfunction in diabetes has been explained both by reduced endoneurial microcirculation and alterations in endoneurial metabolism. It is unclear whether antioxidants primarily improve nerve blood flow or normalise systemic or endoneurial oxidative metabolism. Therefore, we evaluated the effects of the antioxidants glutathione and α‐lipoic acid on both nerve microcirculation and the antioxidative capacity and lipid peroxidation in experimentally diabetic rats.
Genotype‐based association test for general pedigrees: The genotype‐PDT

Many family‐based tests of linkage disequilibrium (LD) are based on counts of alleles rather than genotypes. However, allele‐based tests may not detect interactions among alleles at a single locus that are apparent when examining associations with genotypes. Family‐based tests of LD based on genotypes have been developed, but they are typically valid as tests of association only in families with a single affected individual. To take advantage of families with multiple affected individuals, we propose the genotype‐pedigree disequilibrium test (geno‐PDT) to test for LD between marker locus genotypes and disease. Unlike previous tests for genotypic association, the geno‐PDT is valid in general pedigrees. Simulations to compare the power of the allele‐based PDT and geno‐PDT reveal that under an additive model, the allele‐based PDT is more powerful, but that the geno‐PDT can have greater power when the genetic model is recessive or dominant. Perhaps the most important property of the geno‐PDT is the ability to test for association with particular genotypes, which can reveal underlying patterns of association at the genotypic level. These genotype‐specific tests can be used to suggest possible underlying genetic models that are consistent with the pattern of genotypic association. This is illustrated through an application to a candidate gene analysis of the MLLT3 gene in families with Alzheimer disease. The geno‐PDT approach for testing genotypes in general family data provides a useful tool for identifying genes in complex disease, and partitioning individual genotype contributions will help to dissect the influence of genotype on risk. Genet Epidemiol 25:203–213, 2003. © 2003 Wiley‐Liss, Inc.
A study of the services provided by the women's health nurses in a Sydney Area Health Service.

OBJECTIVES To describe the client characteristics and nature of services provided by women's health nurses and to examine whether the goals set for the service are being met. DESIGN A retrospective study of women's health nurse (WHN) records from 1987 to 1991. SETTING AND SUBJECTS All women attending the women's health nurse in the Southern Sydney Area Health Service, 1987 to 1991. Older women and women of non English-speaking background are specific targets for this service. OUTCOME MEASURES Pap test and breast self-examination practices were examined in relation to age and ethnic background. Use of general practitioner services was examined for all women attending the women's health nurse in 1991. RESULTS Forty-five per cent of clients were aged over 50, and 29 per cent were from a non English-speaking background. Older women were more likely to return for subsequent visits to the women's health nurse. The practice of breast self-examination increased significantly between visits among all women. Forty-one per cent of women had not had a Pap test for at least three years, 93 per cent of these women were screened at their first visit. Eighty-seven per cent of women on their first visit and 86 per cent of women revisiting the women's health nurse had seen their general practitioner within the previous year. CONCLUSION Women's health nurses are meeting the goals set for their service in relation to health promotion and the screening of women. Their services are perceived by their clients as complementary to those provided by their general practitioners.
Renal Angiotensin Type 2 Receptors Mediate Natriuresis Via Angiotensin III in the Angiotensin II Type 1 Receptor–Blocked Rat

Whereas angiotensin (Ang) II is the major effector peptide of the renin–angiotensin system, its metabolite, des-aspartyl1-Ang II (Ang III), may also have biologic activity. We investigated the effects of renal interstitial (RI) administration of candesartan (CAND), a specific Ang II type 1 receptor (AT1) blocker, with and without coinfusion of PD-123319 (PD), a specific Ang II type 2 receptor (AT2) blocker, on Na+ excretion (UNaV) in uninephrectomized rats. We also studied the effects of unilateral RI infusion of Ang II or Ang III on UNaV with and without systemic infusion of CAND with the noninfused kidney as control. In rats receiving normal Na+ intake, RI CAND increased UNaV from 0.07±0.08 to 0.82±0.17 &mgr;mol/min (P<0.01); this response was abolished by PD. During Na+ restriction, CAND increased UNaV from 0.06±0.02 to 0.1±0.02 &mgr;mol/min (P<0.05); this response also was blocked by PD. In rats with both kidneys intact, in the absence of CAND, unilateral RI infusion of Ang III did not significantly alter UNaV. However, with systemic CAND infusion, RI Ang III increased UNaV from 0.08±0.01 &mgr;mol/min to 0.18±0.04 &mgr;mol/min (P<0.01) at 3.5 nmol/kg per minute, and UNaV remained elevated throughout the infusion; this response was abolished by PD. However, RI infusion of Ang II did not significantly alter UNaV at any infusion rate (3.5 to 80 nmol/kg per minute) with or without systemic CAND infusion. These results suggest that intrarenal AT1 receptor blockade engenders natriuresis by activation of AT2 receptors. AT2 receptor activation via Ang III, but not via Ang II, mediates the natriuretic response in the presence of systemic AT1 receptor blockade.
Functional Stoichiometry and Local Enrichment of Calmodulin Interacting with Ca2+ Channels

Calmodulin (CaM) interactions with Ca2+ channels mediate both Ca2+ regulation of channels and local Ca2+ triggering of transcription factors implicated in neuronal memory. Crucial to these functions are the number of CaM molecules (CaMs) regulating each channel, and the number of CaMs privy to the local Ca2+ signal from each channel. To resolve these parameters, we fused L-type Ca2+ channels to single CaM molecules. These chimeric molecules revealed that a single CaM directs L-type channel regulation. Similar fusion molecules were used to estimate the local CaM concentration near Ca2+ channels. This estimate indicates marked enrichment of local CaM, as if a “school” of nearby CaMs were poised to enhance the transduction of local Ca2+ entry into diverse signaling pathways.
Tell Me About It: Drawing as a Communication Tool for Children With Cancer

As health-related research on children shifts from seeking information about children to seeking information directly from them, researchers recognize the need for developmentally appropriate methods such as drawing to help children communicate their experiences. This international study sought to (a) explore and compare the nature of stressors of everyday life and disease that children with cancer in the United Kingdom and the United States experience, (b) explore and compare the coping measures they use to manage these stressors, and (c) examine the use of drawing to enhance communication. Participants included 22 children ages 7 to 18 years, 13 boys and 9 girls receiving treatment for cancer in the United Kingdom and the United States. Quantitative and qualitative methods were used within a grounded theory approach and included drawing to accompany the traditional grounded theory methods of interview and observation. Findings indicate that children, regardless of their ethnicity and other cultural components, respond to the childhood cancer experience in a similar manner. The use of drawing enhanced communication through direct visual expression and/or through verbal expression via the “campfire effect. ”
Maintenance of Peritoneal Macrophages in the Steady State

Resident peritoneal macrophages (Mø) were labeled in situ by intraperitoneal (i.p.) injection of the green fluorescent cell tracking dye PKH‐1. After immunofluorescence staining with Mø specific monoclonal antibodies (Mabs) and phycoerythrin (PE) second antibody, the resident Mø were labeled with both the green dye and red Mab label, while recruited Mø were labeled only with the red Mab tag. These populations were distinguished by two‐color flow cytometry.
Evaluación de nanoformulaciones en el desarrollo in vitro de hongos fitopatógenos

En el control de microorganismos fitopatógenos, existen nuevas propuestas de nanomateriales que incluyen aquellas con quitosano y aceites esenciales, los cuales puedes aplicarse solo o en nanoformulaciones. Seis aislamientos fúngicos se sometieron a diferentes tratamientos para evaluar su efecto en el crecimiento micelial y germinación de las esporas. Se observó una inhibición total (100%) en la mayoría de los hongos cuando se incubaron en medio nutritivo adicionado con nanopartículas de quitosano con aceite esencial de tomillo al 5%; solamente o en cubiertas nanoestructuradas. Dependiendo del aislamiento, hubo una inhibición notable (50% y 100%) en la germinación con el aceite esencial de tomillo 1%. Cuando los hongos crecieron en los tratamientos individuales, la germinación se retrasó 6 h pero se inhibió completamente cuando se incubaron en las nanoformulaciones. Comparado con el aceite esencial de limón, fue el aceite esencial de tomillo el que proporcionó un control remarcable en los hongos evaluados.
Effects of inhibition of myocardial extracellular-responsive kinase and P38 mitogen-activated protein kinase on mechanical function of rat hearts after prolonged hypothermic ischemia

Background. Mitogen-activated protein kinases (MAPKs), including extracellular-responsive kinase (ERK) and p38 MAPK, are activated by stresses associated with hypothermia-rewarming and ischemia-reperfusion. Their activation in heart is associated with beneficial (preconditioning) and adverse effects (apoptosis and impaired contractility). This study determined whether ERK and p38 MAPK activities are altered by hypothermic ischemia and normothermic reperfusion and the consequences of their inhibition on recovery of myocardial function. Methods. Left ventricular work (L·min−1·mm Hg) was assessed during normothermic perfusion (30 min) of isolated rat hearts that were either freshly excised or previously subjected to hypothermic storage (8 hr, 3oC) and rewarming (10 min, 37oC) before normothermic reperfusion (30 min). Phospho-specific immunoblot analysis of p38 MAPK was performed in hearts and various cultured cells. Results. Compared with fresh hearts, hearts subjected to hypothermia and rewarming demonstrated impaired left ventricular work (1.96±0.53, n=12 vs. 8.37±0.46, n=4, P <0.05) during reperfusion. The ERK inhibitor, PD98059 (20 &mgr;M), present during storage and rewarming, caused modest improvement (3.66±0.75, n=9, P <0.05). The p38 MAPK inhibitor, SB202190 (10 &mgr;M), when present during reperfusion, improved recovery (to 6.12±0.75, n=6, P <0.05); it was ineffective if present only during rewarming (1.52±0.88, n=4). In rat2 fibroblasts, hypothermia and rewarming activated p38 MAPK and its downstream kinase MAPK-activated protein kinase 2, but not c-Jun N-terminal kinase/stress-activated protein kinase. Conclusions. Myocardial p38 MAPK and MAPK-activated protein kinase 2 are stimulated by hypothermia, ischemia, and rewarming and are detrimental to recovery of mechanical function of hearts subjected to prolonged hypothermic storage. Inhibition of p38 MAPK may be useful in protocols to improve the recovery of mechanical function of cold-stored hearts.
Fuzzy model-based robust controller design for hydrofoil catamaran

This paper addresses the robust fuzzy controller design for a class of nonlinear system with norm-bounded parametric uncertainties, and its application to attitude controller design for hydrofoil catamaran. First, a robust fuzzy controller is proposed, which can guarantee that the fuzzy system is asymptotically stable. The sufficient conditions are formulated in the form of linear matrix inequalities (LMI). The comparison between the new result and previous method shows that the stability conditions herein possess much less conservativeness. Second, the robust fuzzy controller is applied to attitude controller design for hydrofoil catamaran. Based on such a boat, "HC200B-AI", simulation researches demonstrate the drawbacks of conventional control strategies are overcome successfully.
Sensitivity of capacitance sensors for quality control in blade production

In this paper we analyze the electric field in a measurement setup utilized for determining the shape of a blade. Conformal mapping is utilized to obtain a mathematical representation of the electric field. This representation permits a sensitivity analysis with respect to the distinct geometrical properties of the measurement setup. The result of the analysis enables the optimization of the position and the layout of the measurement electrodes.
Diagnostic accuracy of enthesis ultrasound in the diagnosis of early spondyloarthritis

Objective To determine the sensitivity and specificity of enthesis ultrasound for the diagnostic classification of early spondyloarthritis. Methods A cross-sectional, blinded and controlled study. Standardised bilateral ultrasound of six entheses (Madrid sonography enthesitis index (MASEI)) was performed. Accepted diagnostic classification criteria were used as the gold standard. Validity was analysed by receiver operating characteristic (ROC) curves. Values of p<0.05 were considered significant. Results 113 early spondyloarthritis patients were included (58 women/55 men), 57 non-inflammatory control individuals (29 women/28 men) and 24 inflammatory control individuals (11 women/13 men). The evolution time of spondyloarthritis was 10.9±7.1 months. At least some grade of sacroiliitis on x-ray was present in 59 patients, but only five fulfilled the radiographic sacroiliitis New York criteria. Human leucocyte antigen B27 (HLA-B27) was positive in 42% of patients. No statistical differences were found for the enthesis score among diagnostic spondyloarthritis subtypes form of presentation (axial, peripheral or mixed) or HLA-B27 positivity. The MASEI score achieved statistical significance for gender. The ultrasound score was 23.36±11.40 (mean±SD) in spondyloarthritis patients and 12.26±6.85 and 16.04±9.94 in the non-inflammatory and inflammatory control groups (p<0.001), respectively. The ROC area under the curve was 0.82, and a cut-off point of ≥20 points achieved a likelihood ratio of 5.30 and a specificity of 89.47%. Conclusions Entheses are affected early in spondyloarthritis, and the incidence of involvement is higher in men and independent of the spondyloarthritis diagnostic subtype, HLA-B27 status or presentation pattern. The enthesis ultrasound score seems to have diagnostic accuracy and may be useful for improving the diagnostic accuracy of early spondyloarthritis.
Selective Involvement of Superoxide Anion, but Not Downstream Compounds Hydrogen Peroxide and Peroxynitrite, in Tumor Necrosis Factor-α-induced Apoptosis of Rat Mesangial Cells*

Tumor necrosis factor-α (TNF-α) induces reactive oxygen species (ROS) that serve as second messengers for intracellular signaling. Currently, precise roles of individual ROS in the actions of TNF-α remain to be elucidated. In this report, we investigated the roles of superoxide anion (O⨪2), hydrogen peroxide (H2O2), and peroxynitrite (ONOO−) in TNF-α-triggered apoptosis of mesangial cells. Mesangial cells stimulated by TNF-α produced O⨪2 and underwent apoptosis. The apoptosis was inhibited by transfection with manganese superoxide dismutase or treatment with a pharmacological scavenger of O⨪2, Tiron. In contrast, although exogenous H2O2 induced apoptosis, TNF-α-triggered apoptosis was not affected either by transfection with catalase cDNA or by treatment with catalase protein or glutathione ethyl ester. Similarly, although ONOO− precursor SIN-1 induced apoptosis, treatment with a scavenger of ONOO−, uric acid, or an inhibitor of nitric oxide synthesis,N G-nitro-l-argininemethyl ester hydrochloride, did not affect the TNF-α-triggered apoptosis. Like TNF-α-induced apoptosis, treatment with a O⨪2-releasing agent, pyrogallol, induced typical apoptosis even in the concurrent presence of scavengers for H2O2 and ONOO−. These results suggested that, in mesangial cells, TNF-α induces apoptosis through selective ROS. O⨪2, but not H2O2 or ONOO−, was identified as the crucial mediator for the TNF-α-initiated, apoptotic pathway.
Time-domain measurements of cochlear nonlinearities using combination click stimuli.

Spike discharge patterns of single cochlear nerve fibers in response to acoustic clicks imply that the cochlear neuron is excited by an oscillatory waveform—termed a Click Excitation Function (CEF)—presumably related to the impulse response of the basilar membrane. For a given fiber, the intensities of two clicks separated by k half‐periods of the fiber's characteristic frequency can be adjusted so that a particular peak does not appear in the poststimulus time histograms to both polarities of the stimulus. If each click is assumed to produce identical, linearly superposing CEF's, then the relative amplitudes of adjacent peaks of the CEF can be determined by this nulling technique when k=1. To test this assumption, the relative amplitudes of peaks separated by k half‐periods can be obtained either indirectly from k=1 measurements or by direct measurement with click separations of k > 1 half‐periods. The results obtained by these two methods do not agree and, hence, are inconsistent with the linear superpo.
DNA Packaging Mutant: Repression of the Vaccinia Virus A32 Gene Results in Noninfectious, DNA-Deficient, Spherical, Enveloped Particles

ABSTRACT The vaccinia virus A32 open reading frame was predicted to encode a protein with a nucleoside triphosphate-binding motif and a mass of 34 kDa. To investigate the role of this protein, we constructed a mutant in which the original A32 gene was replaced by an inducible copy. The recombinant virus, vA32i, has a conditional lethal phenotype: infectious virus formation was dependent on isopropyl-β-d-thiogalactopyranoside (IPTG). Under nonpermissive conditions, the mutant synthesized early- and late-stage viral proteins, as well as viral DNA that was processed into unit-length genomes. Electron microscopy of cells infected in the absence of IPTG revealed normal-appearing crescents and immature virus particles but very few with nucleoids. Instead of brick-shaped mature particles with defined core structures, there were numerous electron-dense, spherical particles. Some of these spherical particles were wrapped with cisternal membranes, analogous to intracellular and extracellular enveloped virions. Mutant viral particles, purified by sucrose density gradient centrifugation, had low infectivity and transcriptional activity, and the majority were spherical and lacked DNA. Nevertheless, the particle preparation contained representative membrane proteins, cleaved and uncleaved core proteins, the viral RNA polymerase, the early transcription factor and several enzymes, suggesting that incorporation of these components is not strictly coupled to DNA packaging.
Modal analysis of out-of-plane vibrations in switchable piezoelectric Gallium Nitride micromechanical resonators

This paper analyzes higher order out-of-plane vibrations in a piezoelectric Gallium Nitride (GaN) MEMS resonator that utilizes the two-dimensional electron gas (2DEG) as a switchable and embedded electrode. More specifically, we show that the out-of-plane vibration mode that provides the strongest electromechanical resonance (~12MHz) has an associated stress field that allows charges generated from the orthogonal stresses (σx and σy) via the piezoelectric effect to add up constructively. Besides, we show that the 2DEG bottom electrode can be depleted to reduce the resonant peak till it is indistinguishable from the noise floor. The on-off ratio between the resonant peaks at zero gate bias vs. 2DEG depletion is 41dB and resonator has a quality factor of 3,900.
A case study of Cotard's syndrome: stages and diagnosis

We report the case of a middle‐aged woman with Cotard's syndrome in whom clinical course was evaluated according to stages. Longitudinally this syndrome seems to have three stages, namely germination, blooming and chronic (depressive type/paranoid type) stages. In this patient, the chronic stage, primarily characterized by delusions, was observed without raising suspicion of affective disorder. She did not respond to any pharmacotherapies, but improved dramatically after ECT performed during the chronic stage. Although symptoms change according to the stage, most cases of Cotard's syndrome may belong to the affective spectrum and are probably best treated with ECT, as documented here. In evaluation of the mode of separation between emotion and cognition during follow‐up it is important to consider stage and diagnosis.