Miracle-dz/UniFAR-FTUs huggingface dataset:
Étude génétique du développement normal et pathologique des canaux de Müller

La mise en place et la differenciation du tractus genital femelle est un processus developpemental complexe. Les mecanismes moleculaires et cellulaires impliques dans ce processus sont regis par de nombreux genes et voies de signalisation, entre lesquels les interactions sont multiples. Leur connaissance precise est d'une grande importance d'un point de vue clinique pour la comprehension des mecanismes pathogeniques a l'origine de malformations congenitales. Inversement, l'etude genetique des syndromes malformatifs affectant le tractus reproducteur feminin contribue a la definition des cascades genetiques regulant la mise en place de cet organe essentiel. Dans ce cadre, deux axes de recherche, l'un fondamental, l'autre clinique, ont ete suivis dans cette etude. Dans la premiere approche, le role du gene mTcf7l2 a ete etudie au cours du developpement des voies genitales internes mâle et femelle chez la souris. Ce gene, codant pour un co-facteur transcriptionnel de la voie de signalisation Wnt, est soumis a de nombreux evenements d'epissage alternatif menant a la synthese de plusieurs isoformes proteiques. La caracterisation de son expression dans les canaux de Muller (ebauches embryonnaires des voies genitales internes femelles) en cours de differenciation indique qu'il pourrait etre implique dans la regulation transcriptionnelle de genes cibles lors de ce processus. L'ensemble des resultats obtenus au cours de cette etude suggere que les produits du gene mTcf7l2 participent au developpement sexuellement dimorphique du tractus genital interne. La seconde partie concerne une etude genetique menee sur une cohorte de patientes atteintes du syndrome d'aplasie utero-vaginale congenitale, dit syndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH). Cette etude nous a conduits a caracteriser, chez quatre patientes non apparentees, quatre microdeletions au sein des regions critiques du syndrome de DiGeorge, une pathologie malformative congenitale dont le spectre de malformations chevauche celui du syndrome MRKH. La question d'une seule et meme entite clinique aux manifestations phenotypiques tres variables, ou d'un syndrome dit de genes contigus selon les cas, peut se poser. La delimitation precise de l'une de ces microdeletions a abouti a la definition d'un gene candidat, ITIH5, dont les etudes preliminaires de profil d'expression chez la souris suggerent qu'il joue un role tres important lors du processus de differenciation des canaux mulleriens.
Quality of Life of Postoperative Photon versus Proton Radiation Therapy for Oropharynx Cancer

Purpose: Quality of life (QOL) for patients with oropharyngeal squamous cell cancer is negatively affected by conventional radiation (RT) owing to radiation exposure to normal tissues. Proton therapy, via pencil beam scanning (PBS), can better spare many of these tissues, and may thereby improve QOL. Patients and Methods: Patient-reported outcomes were prospectively collected from patients treated from April 2013 to April 2015. Patients were treated with PBS or intensity-modulated radiation therapy (IMRT) via volumetric arc therapy after transoral robotic surgery. Validated QOL questionnaires were collected before RT, and 3, 6, and 12 months post RT. Results: Sixty-four patients were treated with adjuvant RT after transoral robotic surgery, 33 (52%) with volumetric arc therapy, and 31 (48%) with PBS. Both groups were similar in terms of age, site, stage, and dose delivered. Patients receiving PBS had significantly less dose to many normal structures than those receiving IMRT. These dosimetric advantages with PBS were reflected in higher scores in head and neck specific, as well as general, QOL measures. Most notable was significantly less xerostomia with PBS, on multiple patient-reported outcomes at multiple timepoints (6 and 12 months). Conclusion: Pencil beam scanning, when compared to IMRT, confers a significant dosimetric advantage to many normal organs at risk, with a corresponding benefit in multiple patient-reported QOL parameters in patients receiving adjuvant RT for oropharyngeal squamous cell cancer.
G1 is the major APOL1 risk allele for hypertension-attributed nephropathy in Central Africa

Abstract Background Sub-Saharan Africans exhibit a higher frequency of chronic kidney disease (CKD) than other populations. In this study, we sought to determine the frequency of apolipoprotein L1 (APOL1) genotypes in hypertension-attributed CKD in Kinshasa, Democratic Republic of the Congo. Methods We performed a case–control study identifying 162 subjects: 79 with hypertension-attributed CKD and 83 controls living in Kinshasa who were genotyped for APOL1 risk variants between July 2013 and November 2016. We selected control subjects from the general population and matched them with the cases according to age. Logistic regression analysis was used to examine the relationship between APOL1 high-risk genotypes and CKD. Results The frequencies of the APOL1 G1 and G2 alleles were 19.1 and 7.1%, respectively. The number of individuals with the G1 and G2 risk alleles was significantly higher in the CKD group (12.7%) than in the control group (2.4%), particularly in individuals with end-stage kidney disease (14.3%). Subjects carrying two risk alleles was strongly and independently associated with hypertension-attributed nephropathy, with an adjusted odds ratio of 7.7 (95% confidence interval 1.5–39.7; P = 0.014). The high-risk APOL1 genotypes were G1/G1 and G1/G2, whereas G2/G2 was not found in the study population. Conclusions The results of this study demonstrate the association of high-risk APOL1 genotypes with kidney disease in Kinshasa. The absence of G2/G2 may be consistent with powerful selective sweeps induced by Trypanosoma brucei gambiense infection. In contrast, the presence of APOL1 G2/G2 among individuals of African ancestry in the USA may indicate relaxation of natural selection in a trypanosome-free environment.
Serological Survey of Hydatid Disease in Asymptomatic Peoples in Mosul City, Iraq

Hydatidosis is one of the major zoonotic diseases that causes considerable economic losses and public health problems worldwide. This study was conducted in order to determine the seropositivity of hydatid disease in apparently healthy individuals who are attending the main blood bank in Mosul City. Therefore, enzyme linked immunosorbent assay (ELISA) was used in this study and to find a relation between the seropositivity and age, gender, occupation and educational level and to monitor the impact of the control programs for the disease in Mousl City. The study was conducted during 9 months period extended from November 2012 to July 2013.The samples of the study were composed of 480 apparently healthy individuals with ages ranging between 18-60 years, 280 male and 200 female. Serum samples were obtained from the main blood bank in Mosul city, ELISA test was used for detecting specific anti Echinococcus granulosus antibodies in patients’ sera. ELISA kits used were (Echinococcus ELISA IgGIBL, Hamburg, Germany –RE 56201) kits. The results revealed that out of 480 cases only 24 (5%) were positive by ELISA, the most frequently infected individuals were females (8%) while males were less frequently encounter the disease (2.86 %). the rate of hydatid cysts was highest at age group 21-30 years (7.02%) followed by age group 31-40 years (6.5%), 41-50 years ( 3.7% ) respectively, the highest infection rate was reported among housewives (10.83%), followed by self employed (4.46%), then the government employed (3.23%). On the other hand ,the lowest rate of infection was recorded among students (1.28%) and (2.88%) in other occupations, it was reported that (56.5%) were illiterate, (4.35%) were primary school, (2.42%) were secondary school and (1.38%) were of high education, most of the seropositive individuals were from rural or semi-rural areas surrounding Mosul City. It was recorded that (6.02%) and ( 3.89% ) were from rural and urban area respectively. The rate of seropositivity in the individuals who have contact with dogs (5.81%) was higher than that in individuals who do not have contact with dogs (4.05%).
Post-Aneurysmal Subarachnoid Hemorrhage Vasospasm, Clinical Correlation between the Aneurysm Site and Clinical Vasospasm

Background: Intracranial vasospasm is a common complication following subarachnoid hemorrhage (SAH). The radiographic vasospasm can reach up to 90% of aneurysmal SAH. Materials and Methods: 139 consecutive patients admitted to Cairo University Hospitals from June 2013 to September 2014 with SAH who had been enrolled in a retrospective controlled study were analyzed retrospectively for the occurrence of vasospasm. The data collected from the charts of Cairo University Hospitals were the patient’s demographics, clinical presentation, aneurysm location, treatment modality, and Glasgow Outcome Scale (GOS) scores. We excluded 24 patients with nonaneurysmal SAH, 3 internal carotid artery (ICA) aneurysms, 7 with multiple aneurysms and 4 patients died before treatment. Results: 72 males and 29 females were included in the study, mean age 53.5 ± 11.5 years. Twelve patients had aneurysms located in the vertebral artery group, 24 had middle cerebral artery aneurysms, 11 had pericallosal aneurysms, and 54 patients had anterior communicating artery (ACoA) complex aneurysms. Radiographic vasospasm occurred in 62.4% with the highest incidence (75.9%) at the ACoA complex group. Symptomatic vasospasm occurred in 48.5% with the highest incidence (63%) at the anterior communicating artery complex aneurysm location. The mean GOS at 6 months follow-up was 4.2. The worse GOS was found in the vertebral artery (VA) aneurysm group with a mean of 3.75. Conclusion: Aneurysms of the anterior communicating artery complex group have a greater risk of both radiographic and clinical vasospasm. Also, the worse 6 months follow-up GOS when an aneurysm was located in the VA group.
Effects of drug abuse on academic performance among secondary school students in Masaba North Sub County, Nyamira County, Kenya

This study aimed at investigating the effect of drug abuse on the academic performance of students in Masaba North Sub-County. The study employed descriptive survey research design. Target population was 32 secondary schools in Masaba North sub-county. Simple random sampling technique was used to sample 11 secondary schools. Twelve form three students were sampled using class register from each of the 11 schools sampled. Eleven principals and 11 guidance and counseling teachers from each sampled school were used as respondents. A total sample size of 154 respondents was used. The study used questionnaires and interview schedule to collect primary data. Data collected was analyzed using Statistical Package for Social Sciences (SPSS) software program and presented using descriptive methods such as frequencies, means, standard deviation and percentages and presented as tables and figures. The study concluded that drug and substance abuse among the students led to school drop outs, strained relationship with other students, lack of interest in studying, truancy, low concentration span and healthy problems such as anxiety, headaches, feeling sleepy and confusion leading to declining academic performance. The researcher recommended that schools should develop a drug policy, to create awareness of the effect of drug abuse among students and lias with all educational stakeholders so as to improve student’s academic performance. Although the Ministry of Education has integrated drug abuse in some subjects, it should also consider developing a curriculum on effects of drug abuse. This will ensure that all students are informed about consequences of drug abuse in order to make informed judgements.
Efficacy and safety of traditional Chinese medicine retention enema in the treatment of anal sinusitis: A protocol for systematic review and meta-analysis

Background: Anal sinusitis is an acute or chronic inflammation of the anal sinus, anal flap, and anal glands. There are many traditional Chinese medicine (TCM) therapies for anal sinusitis, and most of them can achieve satisfactory results. Retention enema is one effective treatment for anal sinusitis. Although a number of studies have shown the effectiveness of retention enema with TCM in treating anal sinusitis, the results are inconsistent. Therefore, a meta-analysis was carried out in this study to evaluate the efficacy and safety of retention enema with TCM in the treatment of anal sinusitis. Methods: Randomized controlled trials on TCM retention enema for treating anal sinusitis were retrieved from PubMed, EMBASE, The Cochrane Library, CNKI, WanFang databases and VIP databases. The search time limit was from the database establishment to November 15, 2022. Two researchers independently screened the literature, extracted the data, and evaluated the risk of bias in the included studies. Risk of bias was assessed using the Cochrane Risk of Bias Tool (RoB 2.0). The meta-analysis was conducted by RevMan 5.3. Results: The results of this study will be published in a peer-reviewed publication. Conclusion: This systematic review and meta-analysis will provide evidence for the efficacy and safety of TCM retention enema in the treatment of anal sinusitis.
Galectin-3 Mediates Endothelial-to-Mesenchymal Transition in Pulmonary Arterial Hypertension

Galectin-3 (Gal-3) is highly expressed in fibrotic tissue related to diverse etiologies. endothelial-to-mesenchymal transition (EndoMT), A less well studied phenomenon serves as a critical process in pulmonary vascular remodeling associated with the development of pulmonary arterial hypertension (PAH). EndoMT is hypothesized to contribute to the over-proliferation of αSMA positive cells. We aim to investigate the potential role of Gal-3 in regulating EndoMT in PAH. We observed an upregulation in both Gal-3 and αSMA expression in the monocrotaline (MCT) and Hypoxia PAH model, accompanied with intimal thickening. For more profound vascular remodeling and endothelial layer lesion in former model, we employed Gal-3 knockdown and overexpression lentivirus methodology to the MCT rats to determine the mechanisms underlying abnormal endothelial cell transition in PAH. PAH was evaluated according to right ventricular systolic pressure, right heart hypertrophy and pulmonary artery remodeling. A reduction in Gal-3 was protective against the development of PAH, while Gal-3 upregulation aggravated pulmonary vascular occlusion. In addition, Gal-3 deficiency suppressed pulmonary vascular cell proliferation and macrophage infiltration. Finally, we revealed that in endothelial cells treated with tumor necrosis factor α and hypoxia (representing an in vitro model of PAH), inhibition of Gal-3 by siRNA was able to abolish the associated upregulation of αSMA. These observations suggesting Gal-3 serves as a critical mediator in PAH by regulating EndoMT. Inhibition of Gal-3 may represent a novel therapeutic target for PAH treatment.
AN EVALUATION OF PHYSIOLOGICAL AND BEHAVIORAL INDICATORS OF POSTPARTUM DISEASES AND HEAT STRESS IN DAIRY COWS

OF THESIS AN EVALUATION OF PHYSIOLOGICAL AND BEHAVIORAL INDICATORS OF POSTPARTUM DISEASES AND HEAT STRESS IN DAIRY COWS Precision dairy monitoring technologies can be used to monitor changes in physiology and behavior associated with transition period postpartum diseases and heat stress. Research Objective One was to evaluate how traditional visual examination, body condition, and locomotion with and without blood, milk, and urine variables and precision dairy monitoring technologies determine variable association with hyperketonemia, metritis, mastitis, hypocalcemia and retained placenta,. This was accomplished by monitoring cows 2 weeks before calving to 3 weeks after calving for any postpartum diseases using daily visual examination and automatically detected variables including activity, milk yield, milk components, lying behavior, feeding behavior, rumination time, and reticulorumen temperature. Deviations in reticulorumen temperature, milk production, eating time, lying time, and activity were detected by precision dairy monitoring technologies among cows with postpartum diseases. Research Objective Two was to determine the association between automatically detected variables and heat stress. This objective was accomplished by monitoring cows under natural ventilation, fans, and fans plus sprinklers for variations under each condition. Changes in physiology and behavior as detected by precision dairy monitoring technologies was associated with postpartum diseases and heat stress. Using precision dairy monitoring technologies and visual examinations may aid producers in identifying postpartum disease and heat stress.
Risks to Patient Privacy: A Re-identification of Patients in Maine and Vermont Statewide Hospital Data

Forty-eight states in the United States collect statewide inpatient discharge data that include personal health information of each patient’s hospital visit [1]. A 2013 survey found that 33 of those states subsequently sold or otherwise disclosed copies of the data, but only three states de-identified data consistent with the standards established under the Health Information Portability and Accountability Act (HIPAA), the U.S. federal regulation that dictates the rules by which personal health information is shared [2]. While states are not mandated to follow HIPAA when de-identifying their data, many states still use a version of HIPAA to de-identify discharge data. Did the other 30 states put the privacy of personal health data at risk? To answer this question, Latanya Sweeney tested whether Washington State’s hospital data was vulnerable to re-identification. The study showed that Washington State’s inpatient data allowed for the correct matching of 35 of 81 (or 43 percent) individuals identified in the news stories to the anonymized discharge data released by the states local newspaper stories to anonymized hospital visits [3]. After the study, Washington State improved its anonymization standard for publicly available data and added an application process for others to receive more detailed nonpublic discharge data. Despite this successful outcome, many states were not convinced that the same re-identification strategy would be successful on their datasets. One reason was a belief that Washington State was more vulnerable because it shared patient age in months, a practice not followed by many other states. Is this correct? Are other states exempt from this re-identification strategy? To find out, we repeated the approach on statewide health data from 2010 in Maine and 2011 in Vermont using a total of 291 local news stories. Yoo J, Thaler A, Sweeney L, and Zang J. Risks to Patient Privacy: a re-identification of patients in Maine and Vermont statewide hospital data. Technology Science. 2018100901. October 9, 2018. http://techscience.org/a/2018100901 3 Results summary: We found that 69 of 244 (or 28.3 percent) of the names from local news stories uniquely matched to one hospitalization in the Maine hospital data. Even if redacted to the HIPAA Safe Harbor standard, the Maine data still allowed eight matches (or 3.2 percent). In Vermont, we found that 16 of the 47 (or 34 percent) names from the news stories uniquely matched to one hospitalization. If the Vermont data complied with the HIPAA Safe Harbor standard, five matches would result (or 10.6 percent). Such findings suggest that patients’ personal information is vulnerable to re-identification even when hospital data is de-identified according to HIPAA Safe Harbor guidelines. We call for more rigorous inquiry on the vulnerabilities that exist even when following HIPAA Safe Harbor as a standard for deidentification.
Nutrigenomics of Age-Related Macular Degeneration

Lutein (L) and zeaxanthin (Z) are nutrients that reduce the risk of age-related macular degeneration (AMD). As micronutrients that selectively accumulate in the retina of the eye, L/Z can protect the macula from oxidative damage that contributes to AMD. This review will discuss the role of genes as a mediator between increased intake of dietary L/Z and decreased risk of AMD. Figure 1 outlines a pathway of L/Z that is subject to genetic influences, from 1) the diet to 2) the bloodstream to 3) the retina of the eye. First, L/Z are carotenoids that cannot be synthesized de novo and must be consumed from fruits and vegetables in the diet. Secondly, L/Z are transported by high-density lipoproteins (HDL) in the blood to the retina. Genetic variants that influence HDL status may impact the amount of L/Z that reaches retinal cells. Thirdly, L is taken up by retinal cells. Intracellularly, L down-regulates the expression of proinflammatory genes that contribute to the development of advanced AMD. Overall, L/Z are carotenoids in the diet that are transported by HDL and affect inflammatory pathways in AMD. The intersection of dietary L/Z, genes, and AMD will be reviewed using exemplary epidemiological, genome-wide association, and in vitro studies. The literature will support the integration of personalized nutrition, or dietary recommendations based on genomic information, into the field of eye care. Disciplines Chemistry | Eye Diseases | Optometry Creative Commons License This work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 4.0 License. This capstone report is available at ScholarlyCommons: https://repository.upenn. edu/mcs_capstones/11
Inhibition of flavonoid biosynthetic gene expression coincides with loss of astringency in pollination-constant, non-astringent (PCNA)-type persimmon fruit

Summary Pollination-constant and non-astringent (PCNA)-type persimmon fruit lose their astringency as the fruit develops on the tree, while pollination-constant and astringent (PCA)-type persimmon fruit remain astringent even during fruit maturation. The main reason for the loss of astringency in PCNA-type fruit is sudden termination of tannin accumulation in the fruit at an early stage of fruit development. Astringency of persimmon fruit is due to condensed tannins (CTs) synthesised via the flavonoid biosynthetic pathway. We investigated seasonal patterns of gene expression involved in flavonoid biosynthesis in PCNA- and PCA-type persimmon fruit as a first step to elucidate the mechanism for the sudden termination of tannin accumulation in PCNA-type fruit. Partial DNA sequences of nine structural genes in the flavonoid biosynthetic pathway (PAL, C4H, 4CL, CHS, CHI, F3H, F3’H, F3’5’H, and DFR) were determined using PCR products amplified with degenerate primers for these genes. These sequences were then used as probes for northern blot analysis of the seasonal expression patterns of these genes in the PCNA cvs. ‘Suruga’ and ‘Hanagosho’, and the PCA cvs. ‘Kuramitsu’ and ‘Yokono’. In the early stages of fruit development, when both types of fruit show high astringency, all these genes were expressed at high levels in both types of fruit. However, as fruit developed, expression of all nine genes declined and became undetectable in PCNA-type cvs. ‘Suruga’ and ‘Hanagosho’, coincident with the termination of tannin accumulation. By contrast, in PCA-type cvs. ‘Kuramitsu’ and ‘Yokono’, all nine genes were expressed at high levels until a late stage of fruit development, coincident with high tannin accumulation in the fruit. PCNA-type persimmon appears to be defective in a primary or regulatory step in flavonoid biosynthesis, so that expression of all nine genes involved in biosynthesis became undetectable at an early stage of fruit development.