Miracle-dz/UniFAR-FTUs huggingface dataset:
Transforming Growth Factor-α and Nonsyndromic Cleft Lip with or without Palate in Brazilian Patients: Results of a Large Case-Control Study

Objective Transforming growth factor-α (TGFA) was the first gene suggested to be associated with nonsyndromic cleft lip, cleft palate, or both (CL/ P). There are, however, still controversies of the effect of TGFA on the predisposition of this malformation. To contribute to a better understanding of the role of this gene in the occurrence of CL/P we undertook a case-control study including patients and controls ascertained in different regions of the country. Design We examined the C2/TaqI variant of the TGFA gene in 536 patients with nonsyndromic CL/P and 412 controls. The TGFA genotype frequencies in patients were compared with controls using chi-square or Fisher exact test. DNA, obtained from peripheral blood or buccal swabs, was genotyped for the TaqI polymorphism of TGFA. Setting The probands and corresponding controls were ascertained in different centers of Brazil, partly representing the ethnic admixture of our population. Results The TGFA genotype distribution was very similar in patients with CL/P ascertained in the three different regions of Brazil. However, a discrete difference was observed between controls of Säo Paulo and Ceará (chi-square = 3.605; p = 0.058), with a lower value of the C2/Taq allele frequency in controls of CE (0.04). These data reinforce that this polymorphic system is heterogenous among different ethnic groups. In addition, no evidence was found for an association of TGFA with CL/P in this case-control study. Conclusion These data further suggest that TGFA is not a relevant modifier locus for the occurrence of CL/P.
Category fluency in schizophrenia: opposing effects of negative and positive symptoms?

ABSTRACT Introduction: Category fluency is associated with speed-, executive- and semantic impairments in schizphrenia. It has traditionally been linked to negative symptoms, whereas the relation to positive symptoms is mixed. Associations to the consensus negative, positive and disorganisation factors have not been analysed before. Methods: Animal fluency was administered to 81 patients with schizophrenia. Measures of overall performance and applied strategies were analysed in relation to the Wallwork five-factor PANSS-model. Results: Negative and disorganisation symptoms were negatively related to overall fluency performance. Positive symptoms were positively related to overall performance when controlling for disorganisation symptoms. Negative symptoms were related to fewer switches, less repetitions, less single animals intrusions, and both less rare and common animals. Positive symptoms were related to more effective retrieval of sub-category exemplars following a sub-category title, whereas there were no relation between symptoms and exemplars when the title was not retrieved. The Beta values of negative and positive symptoms were opposite. Conclusion: This is the first study showing that positive symptoms are related to increased fluency performance when disorganisation is controlled for. Like previous studies, negative symptoms were found to depress fluency. Strategy measures indicated that negative symptoms predispose for rigidity, whereas positive symptoms facilitate more efficient associative pathways.
Down the rabbit hole: assessing the influence of schizotypy on the experience of the Barbie Doll Illusion

ABSTRACT Introduction: “Body swapping” illusions have been used to explore factors contributing to the experience of “owning” an artificial body. Preliminary research indicated that those people diagnosed with schizophrenia experience more vivid illusions of this kind than do “normal” individuals. Objectives: Here, we explored whether participants who rated themselves “high” on the cognitive-perceptual factor of the Schizotypal Personality Questionnaire (SPQ) experienced a more compelling sense of immersion in a variation of the body swapping illusion: The Barbie Doll Illusion. We also hypothesised that these individuals would experience a change in size perception when immersed in the illusion. Method: Forty-four participants wore a pair of Head-Mounted Display goggles connected to a video-camera, and thus a doll’s body replaced their own body in their visual field. In two conditions, touch was either applied synchronously or asynchronously to the doll’s and each participant’s leg. After each condition, participants filled out a questionnaire relating to their experience in the illusion. When both conditions were completed, they filled out the SPQ. Results: Our first hypothesis was confirmed, which suggested that people with higher cognitive-perceptual SPQ scores do indeed experience a more compelling Barbie Doll Illusion; however, our second hypothesis was not supported. Conclusion: Our study demonstrated, for the first time, that proneness to the positive and interpersonal factors of schizotypy in a normal population is sufficient to produce a compelling sense of swapping bodies.
Selective neuronal lineages derived from Dll4‐expressing progenitors/precursors in the retina and spinal cord

Background: During retinal and spinal cord neurogenesis, Notch signaling plays crucial roles in regulating proliferation and differentiation of progenitor cells. One of the Notch ligands, Delta‐like 4 (Dll4), has been shown to be expressed in subsets of retinal and spinal cord progenitors/precursors and involved in neuronal subtype specification. However, it remains to be determined whether Dll4 expression has any progenitor/precursor‐specificity contributing to its functional specificity during neural development. Results: We generated a Dll4‐Cre BAC transgenic mouse line that drives Cre recombinase expression mimicking that of the endogenous Dll4 in the developing retina and spinal cord. By fate‐mapping analysis, we found that Dll4‐expressing progenitors/precursors give rise to essentially all cone, amacrine and horizontal cells, a large portion of rod and ganglion cells, but only few bipolar and Müller cells. In the spinal cord, Dll4‐expressing progenitors/precursors generate almost all V2a and V2c cells while producing only a fraction of the cells for other interneuron and motor neuron subtypes along the dorsoventral axis. Conclusions: Our data suggest that selective expression of Dll4 in progenitors/precursors contributes to its functional specificity in neuronal specification and that the Dll4‐Cre line is a valuable tool for gene manipulation to study Notch signaling. Developmental Dynamics 244:86–97, 2015. © 2014 Wiley Periodicals, Inc.
Needle Sharing, Shooting Galleries, And Aids Risks Among Intravenous Drug Users In San Francisco: Criminal Justice And Public Health Policy

This article presents descriptive data on needle sharing and shooting gallery utilization by members of a small sample of intravenous drug users (IVDUs) from the San Francisco bay area. We found that most of this sample of IVDU's experimented for many months before obtaining their own "works," and that nearly 80% shared injection equipment, mostly with spouses or close friends. Moreover, the vast majority had frequented shooting galleries, although these tended to be smaller and less formal than those reported in New York. Their reasons for sharing syringes and using shooting galleries were primarily practical, including, ironically, the need to avoid carrying illicit injection equipment for fear of arrest. The implications of these findings for both criminal justice and public health policy are discussed, including suggestions for how law enforcement might help reduce the spread of AIDS.
Characteristics of Young Suicides by Violent Methods in Rural China *

Abstract: Suicide is one of the most common public health problems in the world. Information on 392 completed suicides aged 15–34 years were consecutively collected from 16 counties in three provinces of China. Information on each suicide was obtained from two informants. The results showed ingesting pesticides or other poisons (73.5%) and hanging (10.5%) were the two most common methods of suicide. Suicides happened more in autumn (30.10%) or summer (27.29%), nighttime (68.3%), and at home (73.6%). However, suicides with violent methods were more common in winter and spring and outside of home. Season (autumn or summer), place (at home), and pesticide stored in home were negatively while depression was positively associated with violent methods of suicide. Characteristics of the suicides by violent methods are different from those by nonviolent methods. Investigations into the methods of rural young suicides are necessary for suicide prevention in China.
Successive recruitment of p‐CDC25B‐Ser351 and p‐cyclin B1‐Ser123 to centrosomes contributes to the release of mouse oocytes from prophase I arrest

Background: The molecular mechanism that controls the activation of Cyclin B1‐CDK1 complex has been widely investigated. It is generally believed that CDC25B acts as a “starter phosphatase” of mitosis. In this study, we investigate the sequential regulation of meiotic resumption by CDC25B and Cyclin B1 in mouse oocytes. Results: Injection of mRNAs coding for CDC25B‐Ser351A and/or Cyclin B1‐Ser123A shows a more potent maturation‐inhibiting ability than their respective wild type. Co‐injection of mRNAs coding for phosphor‐mimic CDC25B‐Ser351D and Cyclin B1‐Ser123D can rescue this prophase I arrest induced by CDC25B‐Ser351A or Cyclin B1‐Ser123A. In addition, p‐CDC25B‐Ser351 is co‐localized at the microtubule‐organizing centers (MTOCs) with Aurora kinase A (AURKA) during maturation and p‐Cyclin B1‐Ser123 is only captured on MTOCs shortly before germinal vesicle breakdown (GVBD). Depletion of AURKA not only resulted in metaphase I (MI) spindle defects and anaphase I (AI) abnormal chromosomes separation but also prevented the phosphorylation of CDC25B‐Ser351 at centrosomes. AURKA depletion induced deficiencies of spindle assembly and progression to MII can be rescued by CDC25B‐Ser351D mRNA injection. Conclusions: AURKA induced phosphorylation and recruitment of CDC25B to MTOCs prior to p‐Cyclin B1‐Ser123, and this sequential regulation is essential for the commitment of the oocytes to resume meiosis. Developmental Dynamics 244:110–121, 2015. © 2014 Wiley Periodicals, Inc.
Analysis of S-phenyl-L-cysteine in globin as a marker of benzene exposure

An assay has been developed to determine S-phenylcysteine (SPC) in globin as a potential biomarker for exposure to benzene. The sensitivity of the assay is less than 20 pmol SPC g-1 globin. Following acidic hydrolysis of the protein, the modified amino acid is purified by reverse phase cartridge chromatography and HPLC, prior to conversion to the tert-butyldimethylsilyl derivative and GC-MS selected ion recording. Quantitation is achieved using the internal standard [2H5]-SPC, and calibration lines were established using a synthetic peptide Leu-His-SPC-Asp-Lys. Control human globin was found to contain ca 30 pmol SPC g-1 globin in two populations. The source of the apparent background level of SPC is unknown.
Overexpression of LINCR in the developing mouse lung epithelium inhibits distal differentiation and induces cystic changes

Background: Lung maturation can be disrupted through pro‐inflammatory processes including intra‐uterine amniotic infection, mechanical ventilation, or oxidative stress. Lincr, originally identified as a gene induced in the lung by lipopolysaccharide (LPS), is also expressed in the developing lung. The Lung‐inducible Neuralized‐related C3HC4 RING domain (LINCR) protein is structurally related to Drosophila Neuralized, a regulator of the developmentally important Notch signaling pathway. LINCR is expressed in alveolar epithelial type II cells in the mature lung, and its expression is markedly increased by LPS and inflammatory cytokines. To test the hypothesis that targeted overexpression of LINCR in lung epithelium would interfere with normal lung development, we generated double transgenic mice that conditionally overexpress LINCR in lung epithelium under the control of doxycycline.
Biomicroscopic Signs and Disease Severity in Keratoconus

The Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Survey represents the largest sample of clinic-based keratoconus patients to date. Data were collected at 38 clinical centers on 1,579 keratoconus patients. This article reports demographic variables, ages, self-reported ages at diagnosis, keratometry, slit-lamp findings, systemic disease, family history of keratoconus, and best spectacle-corrected and contact lens-corrected visual acuity of this sample group. The average age of this clinic-based sample group was 37 years (range 10-89 years), with 84% between 20 and 49 years old. Thirteen percent of patients had unilateral keratoconus, defined as unilateral corneal irregularity. More advanced disease (steeper average keratometric reading) was associated with a greater likelihood of Vogt's striae, Fleischer's ring, and/or corneal scarring. Fifty-eight percent of the eyes in this group of patients had ≥40/40 visual acuity with manifest refraction. Penetrating keratoplasty was reported in 12.3% of eyes. This prospective survey identifies the association between the presence of Vogt's striae, Fleischer's ring, and/or corneal scarring and increasing steepness, as measured by keratometry.
The Role Dilemma of Safety Representatives in the UK Oil and Gas Industry

The tension is noted between trade union activism and involvement in employee participation schemes. It is shown why, in the United Kingdom's offshore oil and gas industry, a participation scheme—the safety representative system—may be expected to promote union activism in an industry which has resisted union encroachment. It is explained why and how safety representatives have, nevertheless, tended to deny unions a role in the system by reference to the conditions in which representatives acquire their definition of their function. This leads to a categorization of safety representative motivation and role performance and a clarification of how those definitions which associate the representative with management functions rather than union activism receive institutional support.
Molecular fingerprinting delineates progenitor populations in the developing zebrafish enteric nervous system

To understand the basis of nervous system development, we must learn how multipotent progenitors generate diverse neuronal and glial lineages. We addressed this issue in the zebrafish enteric nervous system (ENS), a complex neuronal and glial network that regulates essential intestinal functions. Little is currently known about how ENS progenitor subpopulations generate enteric neuronal and glial diversity.
Short Communication: The effect of CYP1A1 induction on the formation of benzo a pyrene adducts in liver and lung DNA and plasma albumin in rats exposed to benzo a pyrene:adduct quantitation by immunoassay and an HPLC method.

Induction of cytochrome P450 enzymes by exposure to polycyclic aromatic hydrocarbons (PAH) can result in both decreased or increased PAH adduct levels. The lung is a main target site for PAH-carcinogenesis. By HPLC determination of B [a]P-r-7, t-8-dihydrodiol, t-9, 10-epoxide (BPDE-I)-DNA adducts in rat, the level of the ultimate carcinogenic B[a]P-metabolite was higher in lungs than in liver. However, measured by immunoassay, the total benzo[a]pyrene (B[a]P)-DNA adduct levels were higher in liver than in lungs. Induction of CYP1A1 in vivo in rat by repeated i.p. doses of methylcholanthrene (MC) prior to a single dose of B[a]P resulted in a 2.4 times increase in CYP1A1 activity in liver tissue and 1.5 times higher levelsof total B[a]P-DNA adducts in lung and liver compared with controls which only received B[a]P. Increased levels of BPDE-I-DNA adducts were significantly correlated to increased CYP1A1 activity in induced lung tissue but not in liver. The times to reach maximum adduct levels were similar for both controls and MC-induced rats in both lung and liver,and plasma albumin. The BPDE-I-albumin adducts reached a maximum level around 1 day after B[a]P exposure and could not be used as a reliable marker of the short term PAH exposure in this study.
hace1 Influences zebrafish cardiac development via ROS‐dependent mechanisms

Background: In this study, we reveal a previously undescribed role of the HACE1 (HECT domain and Ankyrin repeat Containing E3 ubiquitin‐protein ligase 1) tumor suppressor protein in normal vertebrate heart development using the zebrafish (Danio rerio) model. We examined the link between the cardiac phenotypes associated with hace1 loss of function to the expression of the Rho small family GTPase, rac1, which is a known target of HACE1 and promotes ROS production via its interaction with NADPH oxidase holoenzymes. Results: We demonstrate that loss of hace1 in zebrafish via morpholino knockdown results in cardiac deformities, specifically a looping defect, where the heart is either tubular or “inverted”. Whole‐mount in situ hybridization of cardiac markers shows distinct abnormalities in ventricular morphology and atrioventricular valve formation in the hearts of these morphants, as well as increased expression of rac1. Importantly, this phenotype appears to be directly related to Nox enzyme–dependent ROS production, as both genetic inhibition by nox1 and nox2 morpholinos or pharmacologic rescue using ROS scavenging agents restores normal cardiac structure. Conclusions: Our study demonstrates that HACE1 is critical in the normal development and proper function of the vertebrate heart via a ROS‐dependent mechanism. Developmental Dynamics 247:289–303, 2018. © 2017 Wiley Periodicals, Inc.
Stature Estimation from Hand Dimensions in a Han Population of Southern China *

Abstract: To analyze the relationship between stature and hand dimensions for forensic applications, the stature and hand dimensions of 400 healthy adults aged between 20 and 25 years were measured in a Han population of Southern China. The mean values of the stature are 170.49 and 159.72 cm in the men and the women, respectively. The statistically significant differences between the right‐ and the left‐hand dimensions were not observed in the men, whereas the bilateral differences are statistically significant in female hand dimensions. The correlation coefficients were found to be statistically significant for the hand dimensions in both the sexes. The hand length showed higher correlation coefficients than the hand breadth in both sexes. Linear and multiple regressions were developed in this study; multiple regressions showed higher correlation coefficients than linear regressions. Two regression models could be used to estimate the stature from the hand dimensions in this population.
Exosomal small RNA sequencing uncovers the microRNA dose markers for power frequency electromagnetic field exposure

Abstract Purpose: The potential health risks caused by power frequency electromagnetic field (PFEMF) have led to increase public health concerns. However, the diagnosis and prognosis remain challenging in determination of exact dose of PFEMF exposure. Materials and methods: Mice were exposed to different magnetic doses of PFEMF for the following isolation of serum exosomes, microRNAs (miRNAs) extraction and small RNA sequencing. After small RNA sequencing, bioinformatic analysis, quantitative real-time PCR (qRT-PCR) validation and serum exosomal miRNA biomarkers were determined. Results: Significantly changed serum exosomal miRNA as biomarkers of 0.1, 0.5, 2.5 mT and common PFEMF exposure were confirmed. Gene ontology (GO) and Kyoto encyclopaedia of genes and genomes (KEGG) pathway analysis of the downstream target genes of the above-identified exosomal miRNA markers indicated that, exosomal miRNA markers were predicted to be involved in critical pathophysiological processes of neural system and cancer- or other disease-related signalling pathways. Conclusions: Aberrantly-expressed serum exosomal miRNAs, including miR-128-3p for 0.1 mT, miR-133a-3p for 0.5 mT, miR-142a-5p for 2.5 mT, miR-218-5p and miR-199a-3p for common PFEMF exposure, suggested a series of informative markers for not only identifying the exact dose of PFEMF exposure, also consolidating the base for future clinical intervention.
Anomaly detection in medical treatment to discover unusual patient management

The increasing availability of electronic medical records makes it possible to reconstruct patient treatment patterns adopted in a given clinical setting. Developing methods to detect deviations from these patterns may help to determine whether the management of a patient is unusual in some way. Using pattern mining techniques, our method extracts frequent patterns from a given dataset of treatment undergone by patients. Comparison is then made between frequent patterns of treatment and the domain medical knowledge, thus allowing the detection of two types of anomalies. The first type includes frequent patterns which deviate from accepted guidelines. These patterns can be evaluated and eventually fed back into improving the guidelines. The second type of anomalies comprises the anomalous cases that deviate from the frequent patterns. They may simply indicate variations in the examinations prescribed due to specific patient conditions, otherwise they may reveal limitation in accessing public health services or identify errors in the data entry process. In all these cases, the detection of the anomalies is useful for a successive analysis by domain experts. We applied our method to three case studies to show how it can be successfully exploited in real medical domain.
Antipsychotic medication, mortality and neurodegeneration: The need for more selective use and lower doses

Introduction: Although a range of adverse effects of antipsychotic medication are well documented, less attention has been paid to the issue of reduced life expectancy. Method: The medical literature was searched to identify studies assessing severe somatic side‐effects of long‐term antipsychotic treatment with a possible impact on mortality, and studies evaluating antipsychotic‐associated brain structure changes. Results: Short‐term cardiac and long‐term metabolic side effects increasing cardiovascular risk exert a negative influence on mortality in people diagnosed with schizophrenia. Three out of five studies examining antipsychotic dosage and higher mortality showed a significant association for one or more antipsychotics. Two out of four found negative effects of antipsychotic polypharmacy on life‐expectancy. One large historical cohort study found an association between longer duration of cumulative use and lower mortality, whereas other prospective studies found no effect. There is evidence for frontal grey matter reduction which seems to be accelerated by antipsychotic treatment, and may depend on cumulative doses. The amount of brain volume changes varies between individuals and with type and duration of antipsychotic treatment. Conclusion: Antipsychotics should be used more selectively, for shorter durations and with lowest possible effective dose. Greater use of psychosocial interventions that have been proven effective should be an integral part of facilitating reductions in frequency, dosage and duration of antipsycotics.