Miracle-dz/UniFAR-FTUs huggingface dataset:
Survival of ram spermatozoa at high dilution: protective effect of simple constituents of culture media as compared with seminal plasma.

During incubation of ram spermatozoa at 1 x 10(7) cells mL-1 or less in a simple HEPES-buffered saline medium, high levels of cell death were detected using propidium iodide as a probe of viability (membrane integrity): some 70% of the cells died during 3 h incubation at 37 degrees C. Because the conditions of incubation were similar to those encountered during manipulations for in vitro fertilization, this phenomenon was investigated further. If ram spermatozoa were diluted in an equivalent sucrose-based medium, or if the saline medium was supplemented with 10% seminal plasma, survival was greatly improved (only 5-15% died during a 3-h incubation at 37 degrees C); the protective effect of seminal plasma resided in a 5-10 kDa fraction. Sperm death in the basal saline medium was strongly dependent on cell concentration below 5 x 10(7) spermatozoa mL-1 whereas little effect of concentration was seen in the sucrose medium or in the presence of seminal plasma. The presence of Ca2+ (2 mM), EGTA (1 mM) or mercaptoethanol (1 mM) enhanced sperm survival in saline medium, but no effect was gained by replacing NaCl with KCl, and neither BSA nor fetal calf serum were beneficial. However, when a combination of pyruvate (1 mM), lactate (21.7 mM), Mg2+ (0.4 mM), phosphate (0.3 mM) and Ca2+ (2 mM) was included in the saline medium (to render it similar to Tyrode's medium), cell survival was greatly improved (12% died during the 3-h incubation). (ABSTRACT TRUNCATED AT 250 WORDS)
Identification of Two Novel β-Thalassemia Mutations (HBB: c.335-346del and HBB: c.108 C > G) in Han Chinese

Abstract β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although a number of causative mutations have been reported, here we report two novel mutations detected in Chinese patients. Red blood cell (RBC) indices were indicative of β-thal, but no mutations were detected by routine methods. Sequencing of the β-globin gene uncovered one mutant with a 12 bp deletion (TCTGTGTGCTGG) from codon 111 to codon 115 (HBB: c.335-346del12bp) in exon 3. The other was found to be a nonsense mutation at codon 35 (HBB: c.108 C > G). The identification of these novel mutations will facilitate future diagnoses of β-thal caused by either of these mutations and will also be useful for genetic counseling and prenatal diagnosis.
Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure Events

Background—The aim of the study was to clarify the relationship between genotype status and major cardiovascular outcomes in a large cohort of patients with hypertrophic cardiomyopathy. Methods and Results—Genetic testing was performed in 558 consecutive proband patients with hypertrophic cardiomyopathy. Baseline and follow-up (mean follow-up 6.3 years) clinical and echocardiographic data were obtained. Pathogenic mutations were identified in 198 (35.4%) patients. Genotype-positive patients were more likely to be women (44% versus 30%; P=0.001), younger (39 versus 48 years; P<0.001), and have a family history of hypertrophic cardiomyopathy (53% versus 20%; P<0.001), as well as family history of sudden cardiac death (17% versus 7%; P=0.002). There were no significant differences in the rates of atrial fibrillation, stroke, or septal reduction procedures. Multivariable analysis demonstrated that genotype-positive status was an independent risk factor for the development of combined heart failure end points (decline in left ventricular ejection fraction to <50%, New York Heart Association III or IV in the absence of obstruction, heart failure–related hospital admission, transplantation, and heart failure–related death; hazards ratio, 4.51; confidence interval, 2.09–9.31; P<0.001). No difference was seen in heart failure events between the myosin heavy chain and myosin-binding protein C genotype-positive patients. Conclusions—The presence of a pathogenic sarcomere mutation in patients with hypertrophic cardiomyopathy was associated with an increase in heart failure events, with no differences in event rates seen between myosin heavy chain and myosin-binding protein C genotype-positive patients. The presence of a disease-causing mutation seems more clinically relevant than the specific mutation itself.
PseudoBase: a database with RNA pseudoknots

PseudoBase is a database containing structural, functional and sequence data related to RNA pseudo-knots. It can be reached at http://wwwbio. Leiden Univ.nl/ approximately Batenburg/PKB.html. This page will direct the user to a retrieval page from where a particular pseudoknot can be chosen, or to a submission page which enables the user to add pseudoknot information to the database or to an informative page that elaborates on the various aspects of the database. For each pseudoknot, 12 items are stored, e.g. the nucleotides of the region that contains the pseudoknot, the stem positions of the pseudoknot, the EMBL accession number of the sequence that contains this pseudoknot and the support that can be given regarding the reliability of the pseudoknot. Access is via a small number of steps, using 16 different categories. The development process was done by applying the evolutionary methodology for software development rather than by applying the methodology of the classical waterfall model or the more modern spiral model.
Loss of CDC14B expression in clear cell renal cell carcinoma: meta-analysis of microarray data sets.

OBJECTIVES To discover significant differentially expressed genes (DEGs) in clear cell renal cell carcinoma (ccRCC) that might be unidentified by single microarray analysis. METHODS The effect sizes of five ccRCC microarray data sets were combined using a random-effects model. The most downregulated gene was validated in paired 80 ccRCC tissues by immunohistochemistry. RESULTS CDC14B was the most downregulated gene among 1,761 DEGs. CDC14B was strongly expressed in the apical proximal tubules in the nonneoplastic tissues, while it was completely absent in 10 (12.5%) of 80 or downregulated in 70 (87.5%) of 80 ccRCC cases. The complete loss of CDC14B correlated with high T stage (P = .038), advanced TNM stage (P = .027), tumor recurrence (P = .038), and shorter recurrence-free survival (P = .046) compared with the partial loss of CDC14B. CONCLUSIONS Microarray meta-analysis is a useful tool for pathologists. CDC14B expression is downregulated in ccRCC, suggesting its role in renal carcinogenesis.
Validity of the diagnostic criteria for chronic cerebrospinal venous insufficiency and association with multiple sclerosis

Background: The chronic cerebrospinal venous insufficiency theory proposes that altered cerebral venous hemodynamics play a role in the pathophysiology of multiple sclerosis. We aimed to explore the validity of this hypothesis by assessing the diagnostic criteria for chronic cerebrospinal venous insufficiency in persons with and without multiple sclerosis. Methods: We compared the proportion of venous outflow abnormalities between patients with multiple sclerosis and healthy controls using extracranial Doppler ultrasonography and gadolinium-enhanced magnetic resonance venography. Interpreting radiologists were blinded to the clinical status of participants. Results: We enrolled 120 patients with multiple sclerosis and 60 healthy controls. High proportions of both patients (67/115 [58%]) and controls (38/60 [63%]) met 1 or more of the proposed ultrasound criteria for diagnosis of chronic cerebrospinal venous insufficiency (p = 0.6). A minority of patients (23/115 [20%]) and controls (6/60 [10%]) fulfilled 2 or more of the proposed criteria (p = 0.1). There were no differences between patients and controls in the prevalence of each individual ultrasound criterion. Similarly, there were no differences in intracranial or extracranial venous patency between groups, as measured by magnetic resonance venography. Interpretation: We detected no differences in the proportion of venous outflow abnormalities between patients with multiple sclerosis and healthy controls. Moreover, our study revealed significant methodologic concerns regarding the proposed diagnostic criteria for chronic cerebrospinal venous insufficiency that challenge their validity.
Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E.

BACKGROUND Variants of the apolipoprotein E allele appear to account for most cases of late-onset Alzheimer's disease, and persons with two copies of the epsilon 4 allele appear to have an especially high risk of dementia. Positron-emission tomography (PET) has identified specific regions of the brain in which the rate of glucose metabolism declines progressively in patients with probable Alzheimer's disease. We used PET to investigate whether these same regions of the brain are affected in subjects homozygous for the epsilon 4 allele before the onset of cognitive impairment. METHODS Apolipoprotein E genotypes were established in 235 volunteers 50 to 65 years of age who reported a family history of probable Alzheimer's disease. Neurologic and psychiatric evaluations, a battery of neuropsychological tests, magnetic resonance imaging, and PET were performed in 11 epsilon 4 homozygotes and 22 controls without the epsilon 4 allele who were matched for sex, age, and level of education. An automated method was used to generate an aggregate surface-projection map that compared regional rates of glucose metabolism in the two groups. RESULTS The epsilon 4 homozygotes were cognitively normal. They had significantly reduced rates of glucose metabolism in the same posterior cingulate, parietal, temporal, and prefrontal regions as in previously studied patients with probable Alzheimer's disease. They also had reduced rates of glucose metabolism in additional prefrontal regions, which may be preferentially affected during normal aging. CONCLUSIONS In late middle age, cognitively normal subjects who are homozygous for the epsilon 4 allele for apolipoprotein E have reduced glucose metabolism in the same regions of the brain as in patients with probable Alzheimer's disease. These findings provide preclinical evidence that the presence of the epsilon 4 allele is a risk factor for Alzheimer's disease. PET may offer a relatively rapid way of testing future treatments to prevent Alzheimer's disease.
Direct Parametric Reconstruction With Joint Motion Estimation/Correction for Dynamic Brain PET Data

Direct reconstruction of parametric images from raw photon counts has been shown to improve the quantitative analysis of dynamic positron emission tomography (PET) data. However it suffers from subject motion which is inevitable during the typical acquisition time of 1-2 hours. In this work we propose a framework to jointly estimate subject head motion and reconstruct the motion-corrected parametric images directly from raw PET data, so that the effects of distorted tissue-to-voxel mapping due to subject motion can be reduced in reconstructing the parametric images with motion-compensated attenuation correction and spatially aligned temporal PET data. The proposed approach is formulated within the maximum likelihood framework, and efficient solutions are derived for estimating subject motion and kinetic parameters from raw PET photon count data. Results from evaluations on simulated [11C]raclopride data using the Zubal brain phantom and real clinical [18F]florbetapir data of a patient with Alzheimer's disease show that the proposed joint direct parametric reconstruction motion correction approach can improve the accuracy of quantifying dynamic PET data with large subject motion.
Nanographene-oxide mediated hyperthermia for cancer treatment

One of the new trends of nanomedicine is the application of nanoparticles for targeting tumors to achieve localized tumor cell destruction while producing minimal side effects on healthy cells, but their application will not be feasible without a previous understanding of vectorcell/tissue interactions, possible toxicity and accumulation risks. [1] The enhanced permeability and retention effect (EPR), provoked by the angiogenesis process of tumors, allows preferential concentration of nanosystems on the tumor periphery, making hyperthermia mediated by these systems a potential efficient therapy for producing confined tumoral cell death. [2] It can induce lethal damage to cellular components at temperatures above 40 oC and cancerous cells are subsequently removed by macrophages, causing the tumor to diminish. Although hyperthermia is a well-known concept, little is known about the type of damage, cell death and secondary effects that these nanosystems mediated therapies can provoke locally. Amongst hyperthermia potential agents, nano graphene oxide (nGO) has been proposed due to its strong Near-Infrared (NIR 700-1100 nm range) optical absorption ability and its unique 2dimensional aspect ratio. [3] Restricting all dimensions at nanoscale could allow unique performing when compared to any other nanoparticle, but it is mandatory to deeply study the hyperthermia route and the kind of nGO-cell interactions induced in the process. By optimizing the nGO synthesis, it is possible to diminish the initial cell-particle interactions to reduce possible future toxicity in healthy cells. [3,4] Cell internalization kinetics (specifically for targeting tumoral osteoblasts on a bone cancer model) were established for producing a safe and efficient tumor cell destruction avoiding damage on untreated cells as well as an evaluation of the nature of tumor destruction that could be produced by this hyperthermia treatment. [5,6] The type of cell damage and toxicity produced by NIR laser irradiation was evaluated as a function of exposure time and laser power in order to control the temperature rise and consequent damage in the nGO containing cell culture medium. The results showed that cell culture temperature (after irradiating cells with internalized nGO) increases preferentially with laser power rather than with exposure time. Moreover, when laser power is increased, necrosis is the preferential cell death (Fig. 1). The results suggested that controlling the type of cell death, the threshold for producing soft or harmful damage could be precisely controlled and so, the increase of cytokine release to the medium, having this a direct impact on immune system reactions. Moreover, nGO cell exposure did not stimulate proinflammatory cytokine secretion [7] and nanoparticles incorporation by different cell types either in the absence or in the presence of eight endocytosis inhibitors, showed that macropynocitosis is the general mechanism of nGO internalization, but it can also entry through clathrin-dependent mechanisms in hepatocytes and macrophages. [8]
[Intercondylar fractures of the humerus].

In this paper we review a series of thirtyfour intercondylar fractures of the distal end of the humerus that were treated by open reduction over a tenyear period. The fracture patterns were classified according to the system of Muller et al. and a strict rating scale incorporating subjective data, objective motion, and the functional status of the involved elbow was used for the results. At a mean follow-up of 5.8 years, thirteen results were rated as excellent; fourteen, as good; four, as fair; and three, as pOOr. Complications included postoperative neuritis in five patients; three non-unions; and refracture, heterotopic bone, and deep sepsis in one patient each. Since the original description by Desault in 18 1 1 , the intercondylar fracture of the distal end of the humerus has remained one of the most difficult of all fractures to manage. Recommendations for treatment have ranged widely, from essentially no treatment to operative reduction and extensive internal fixation247’ I.13. I4.19. 20.23 The problem of management has been made more difficult by the fact that the fracture is relatively uncommon, which prevents the mdividual surgeon from accumulating sufficient personal experience to critically evaluate the results of treatment. In some ofthese fractures, particularly those with intraarticular comminution, anatomical restoration of the articular surface cannot be adequately achieved or maintained through manipulative reduction alone. Critics of open meduction have argued that the additional surgical trauma and the inherent difficulty in securely stabilizing the small intra* Read in part at the Annual Meeting of The American Academy of Orthopaedic Surgeons. Atlanta. Georgia, February 9. 1984. t Department ofOrthopaedic Surgery. ACC 427, Massachusetts General Hospital, Boston, Massachusetts 021 14. Department of Surgery. University Hospital. CH-4031. Basle. Switzerland. articular fragments will lead to added fibrosis and a less satisfactory result723. Even authors who have recommended open reduction differed widely in their opinions with regard to the extent and type of internal fixation to be used, as well Bicondy/ar fractures with or without rotary deformity Bicondy/ar fractures with supracondy/ar comminution Bicondylar fractures involving compression and/or comminution of the articular components
Mental Retardation and Human Chromosome 21 Gene Overdosage : From Functional Genomics and Molecular Mechanisms Towards Prevention and Treatment of the Neuropathogenesis of Down Syndrome

Down syndrome (DS), caused by a genomic imbalance of human chromosome 21 (HSA21), is mainly observed as trisomy 21 and is the major genetic cause of mental retardation (MR). MR and associated neurological and behavioural alterations result from dysregulation in critical HSA21 genes and associated molecular pathways. Gene expression, transcriptome, proteome and functional genomics studies, in human, trisomic and transgenic mouse models have shown similar genotype/phenotype correlation and parallel outcomes suggesting that the same evolutionarily conserved genetic programmes are perturbed by gene-dosage effects. The expression variations caused by this gene-dosage imbalance may firstly induce brain functional variations at cellular level, as primary phenotypes, and finally induce neuromorphological alterations and cognitive deficits as secondary phenotypes. The identification of trisomic genes overexpressed in the brain and their function, their developmental regulated expression and their downstream effects, their interaction with other proteins, and their involvement in regulatory and metabolic pathways is giving a clearer view of the origin of the MR in DS. This led to the identification of potential targets in the altered molecular pathways involved in MR pathogenesis, such as calcineurin, NFATs and MAPK pathways, that may be potentially corrected, in the perspective of new therapeutic approaches. Treatment of DS mouse models with NMDA receptor or GABA A antagonists allowed post-drug rescue of cognitive deficits. Besides these new pharmacotherapies, the regulation of gene expression by microRNAs or small interfering RNAs provide exciting possibilities for exogenous correction of the aberrant gene expression in DS and provide potential directions for clinical therapeutics of MR. Herein, we highlight the genetic networks and molecular mechanisms implicated in the pathogenesis of MR in DS and, thereafter, we outline some of the therapeutic strategies for the treatment of this as yet incurable cognitive disorder with a considerable impact on public health. M. Rachidi ( ) EA 3508, Laboratory of Genetic Dysregulation Models: Trisomy 21 and Hyperhomocysteinemia, University of Paris 7-Denis Diderot, Tour 54, E2-54-53, Case 7104, 2 Place Jussieu, Paris 75251, France e-mail: mrachidi2@yahoo.fr Mental Retardation and Human Chromosome 21 Gene Overdosage: From Functional Genomics and Molecular Mechanisms Towards Prevention and Treatment of the Neuropathogenesis of Down Syndrome Mohammed Rachidi and Carmela Lopes 21 J.D. Clelland (ed.), Genomics, Proteomics, and the Nervous System, Advances in Neurobiology 2, DOI 10.1007/978-1-4419-7197-5_2, © Springer Science+Business Media, LLC 2011 22 M. Rachidi and C. Lopes
Women's Lives and Poverty: Developing a Framework of Real Reform for Welfare

The historic 1996 welfare reform is typically regarded as a successful public policy. Using the limited success metric of "reducing welfare rolls," welfare evaluations and analysis have obscured the lived experiences of recipients, particularly among women, who are disproportionally represented among welfare recipients. While it is true that welfare numbers are down, those women who have been forced off or left behind are not doing well. In this paper we seek to explore and critically evaluate the lived experiences of women, to challenge mainstream understandings of women's "success" post-welfare, and propose a theoretical and methodological framework, based on an intersectional analysis, that will create more effective policy.
Psychological Impact on Women of Miscarriage Versus Induced Abortion: A 2-Year Follow-up Study

Objective To compare the psychological trauma reactions of women who had either a miscarriage or an induced abortion, in the 2 years after the event. Further, to identify important predictors of Impact of Event Scale (IES) scores. Method A consecutive sample of women who experienced miscarriage (N = 40) or induced abortion (N = 80) were interviewed 3 times: 10 days (T1), 6 months (T2), and 2 years (T3) after the event. Results At T1, 47.5% of the women who had a miscarriage were cases (IES score 19 points on 1 or both of the IES subscales), compared with 30% for women who had an induced abortion (p = .60). The corresponding values at T3 were 2.6% and 18.1%, respectively (p = .019). At all measurement time points, the group who had induced abortion scored higher on IES avoidance. Women who had a miscarriage were more likely to experience feelings of loss and grief, whereas women who had induced abortion were more likely to experience feelings of relief, guilt, and shame. At T3, IES intrusion was predicted by feelings of loss and grief at T1, whereas avoidance at T3 was predicted by guilt and shame at T1. Conclusion The short-term emotional reactions to miscarriage appear to be larger and more powerful than those to induced abortion. In the long term, however, women who had induced abortion reported significantly more avoidance of thoughts and feelings related to the event than women who had a miscarriage.
THE OCULAR MENACE OF WOOD ALCOHOL POISONING

exaggerated sphere of its usefulness; nor do I imply any disparagement of the ordinary methods in respect of which contactillumination may serve as a useful adjunct on particular occasions. Such occasions are the detection of fine corneal opacities and of early keratitis punctata against a light background, or the detection of the surface haze of slightly raised tension, or the investigation of small abnormalities in the anterior chamber and lens. I am indebted to the Surgeons of Moorfields Hospital for their courtesy in permitting me to examine and to quote from the records of their cases. I have frequently referred both to Mr. Treacher Collins and to Mr. Herbert Parsons for their opinions and advice; the readiness with which they have accorded these is a kindness for which I am very grateful.