Phenotype prediction from single-cell RNA-seq data using attention-based neural networks.

Motivation: A patient's disease phenotype can be driven and determined by specific groups of cells whose marker genes are either unknown or can only be detected at late-stage using conventional bulk assays such as RNA-Seq technology. Recent advances in single-cell RNA sequencing (scRNA-seq) enable gene expression profiling in cell-level resolution, and therefore have the potential to identify those cells driving the disease phenotype even while the number of these cells is small. However, most existing methods rely heavily on accurate cell type detection, and the number of available annotated samples is usually too small for training deep learning predictive models.

Optimized high-throughput screening of non-coding variants identified from genome-wide association studies.

The vast majority of disease-associated single nucleotide polymorphisms (SNP) identified from genome-wide association studies (GWAS) are localized in non-coding regions. A significant fraction of these variants impact transcription factors binding to enhancer elements and alter gene expression. To functionally interrogate the activity of such variants we developed snpSTARRseq, a high-throughput experimental method that can interrogate the functional impact of hundreds to thousands of non-coding variants on enhancer activity.

Isolating Nuclei From Frozen Human Heart Tissue for Single-Nucleus RNA Sequencing.

Heart disease is the leading cause of global morbidity and mortality. This is in part because, despite an abundance of animal and in vitro models, it has been a challenge to date to study human heart tissue with sufficient depth and resolution to develop disease-modifying therapies for common cardiac conditions. Single-nucleus RNA sequencing (snRNA-seq) has emerged as a powerful tool capable of analyzing cellular function and signaling in health and disease, and has already contributed to significant advances in areas such as oncology and hematology.

Frequencies and Distribution of APOE Gene Polymorphisms and Its Association With Lipid Parameters in the Senegalese Population.

Background Apolipoprotein E is a multifunctional protein that plays an important role in lipid metabolism. It is encoded by the gene. However, gene polymorphism has not been very well studied in the Senegalese population.

Functional mapping of androgen receptor enhancer activity.

Background: Androgen receptor (AR) is critical to the initiation, growth, and progression of prostate cancer. Once activated, the AR binds to cis-regulatory enhancer elements on DNA that drive gene expression. Yet, there are 10-100× more binding sites than differentially expressed genes.

Well-Differentiated Papillary Mesothelioma of the Peritoneum Is Genetically Distinct from Malignant Mesothelioma.

Well-differentiated papillary mesothelioma (WDPM) is an uncommon mesothelial proliferation that is most commonly encountered as an incidental finding in the peritoneal cavity. There is controversy in the literature about whether WDPM is a neoplasm or a reactive process and, if neoplastic, whether it is a variant or precursor of epithelial malignant mesothelioma or is a different entity. Using whole exome sequencing of five WDPMs of the peritoneum, we have identified distinct mutations in , , , , , , and shared by WDPM cases but not reported in malignant mesotheliomas.

Identification of acute myocardial infarction in elderly patients using optimized highly sensitive troponin I thresholds.

Established diagnostic thresholds for high-sensitivity cardiac troponins (hs-cTn) might not apply for elderly patients as they are elevated irrespective of the presence of an acute myocardial infarction (AMI). Aim of the present study was to investigate hs-cTnI in elderly patients with suspected AMI and to calculate optimized diagnostic cutoffs. Data from a prospective multi-centre study and from a second independent prospective single-centre cohort study were analysed.

[Prescription And Delivery's Survey Of Benzodiazepines In The Occurrence Of Addictions At Mbour's District].

Unlabelled: Impact of the prescription and delivery of benzodiazepines in the occurrence of addictions in the district of Mbour.

Introduction: Benzodiazepines (BZD) are widely used nowadays and are at the origin of an addiction.

Objectives: The objective was to evaluate the quality of benzodiazepine prescribing and delivery in the Mbour department of Senegal and subsequently to implement an addictovigilance strategy.

Prognostic significance of high free T4 and low free T3 levels in non-thyroidal illness syndrome.

Background: Non-thyroidal illness syndrome is characterized by decreased serum free T3 (FT3) level and associates with long term mortality. Serum free T4 (FT4) may affect on mortality with FT3 in course of chronic illness. This study performed to evaluate the association between both decreased FT3 with elevated FT4 levels and mortality risk.

N-Terminal pro-B-Type Natriuretic Peptide Levels are Linked with Modified Child-Pugh Classification in Patients with Nonalcoholic Cirrhosis [NT-ProBNP and Liver Cirrhosis].

Excess N-terminal pro-brain natriuretic peptide secretion has been linked to cirrhosis in previously studies. The relationship of plasma N-terminal pro-brain natriuretic peptide levels and cardiac dysfunction determined by echocardiography were investigated in patients with nonalcoholic cirrhosis and a control group of chronic hepatitis. This study was designed as a cross-sectional study.

The role of fetuin-A in cardiac functions and metabolism in peritoneal dialysis patients.

Aim: Fetuin-A is a member of protease inhibitors that act as an inhibitor of vascular calcification. In our study, the relationship of fetuin-A with metabolic and echocardiographic parameters in peritoneal dialysis (PD) patients has been investigated.

Methods: Besides demographic, clinical and laboratory data, fetuin-A level was recorded.

Intraday blood rheological changes induced by Ramadan fasting in sickle cell trait carriers.

The goal of the present study was to test whether fasting during the holy period of Ramadan may disturb blood rheology in sickle cell trait (SCT) carriers more than in a group of subjects with normal hemoglobin. Twenty African male students participated in the study: 10 SCT carriers and 10 subjects with normal hemoglobin (CONT). Biochemical parameters (plasma glucose and lipids levels), hematocrit, blood viscosity, and urine specific gravity were measured in the two groups on the 14th day of the Ramadan period (Ramadan condition) and 6 wks after the end of Ramadan (baseline condition).

The prevalence of metabolic syndrome in different ethnic groups in Turkey.

Objective: To determine the prevalence of metabolic syndrome and its risk factors in various ethnic groups in Istanbul, Turkey.

Methods: Study participants were aged ≥ 20 years. Risk factor components for metabolic syndrome were measured and its presence was determined in study participants.

[Evaluation of erythrocyte deformability in subjects with sickle cell trait during a soccer game: effect of hydration ad libitum].

This study compared erythrocyte changes between a group of subjects with sickle cell trait (SCT) and controls (subjects without hemoglobinopathy) during a soccer game in two conditions: with and without hydration. Erythrocyte deformability of subjects was assessed by the coefficient of erythrocyte rigidity (Tk) which was calculated before and after football match. Our results showed a significant increase in erythrocyte rigidity (Tk) in SCT at the end of physical activities without hydration; however when water was provided ad libitum their Tk decreased significantly, reaching values of controls.

A metabolomic strategy defines the regulation of lipid content and global metabolism by Δ9 desaturases in Caenorhabditis elegans.

Background: Caenorhabditis elegans provides a genetically tractable model organism to investigate the network of genes involved in fat metabolism and how regulation is perturbed to produce the complex phenotype of obesity. C. elegans possess the full range of desaturases, including the Δ9 desaturases expressed by fat-5, fat-6 and fat-7.

The vascular endothelium masks the persistent inhibition of rat thoracic arterial tone induced by S-nitrosoglutathione.

Aim: In endothelium-denuded arteries, the nitric oxide (NO) donor S-nitrosoglutathione (GSNO) induced a persistent hypo-reactivity to vasoconstrictors, and low-molecular weight thiols such as N-acetyl cysteine (NAC) produced a relaxant effect. These effects were attributed to the formation of vascular NO stores. In arteries with a functional endothelium, such long-lasting effects on arterial tone have not been well characterised.

Tuberculosis in patients on hemodialysis in an endemic region.

Clinical presentation of tuberculosis is different in hemodialysis patients than in the general population. This study aimed to analyze hemodialysis patients with tuberculosis in Istanbul. Patients who were on a chronic hemodialysis program in Istanbul for more than 3 months and diagnosed to have tuberculosis at least 3 months after the start of hemodialysis were included.

Additional value of carotid artery intima-media thickness in cardiovascular risk assessment by Framingham risk-score in Type 2 diabetes: a retrospective cohort study.

Background: The intima-media thickness (IMT) of the carotid artery is highly correlated with cardiovascular events in Type 2 diabetes mellitus (T2DM). The aim of the present study was to undertake a cardiovascular risk assessment in a group of patients (n = 102) who had been followed-up for 10 years.

Methods: Framingham risk score (FRS), IMT, and various other clinical parameters were evaluated retrospectively using Student's t-test, regression analysis, and χ² tests.

High definition colonoscopy combined with i-Scan is superior in the detection of colorectal neoplasias compared with standard video colonoscopy: a prospective randomized controlled trial.

Introduction: Colonoscopy is the accepted gold standard for the detection of colorectal cancer. The aim of the current study was to prospectively compare high definition plus (HD+) colonoscopy with I-Scan functionality (electronic staining) vs. standard video colonoscopy.

The efficacy of n-acetylcysteine in preventing contrast-induced nephropathy in type 2 diabetic patients without nephropathy.

Background: N-acetylcysteine (NAC) is reported to have potential for prevention of contrast-induced nephropathy(CIN), however, there is not enough data related to its effects on diabetic patients without nephropathy.

Methods: A total of 45 diabetic patients without nephropathy undergoing a computerized tomography (CT) investigation and who would be receiving radio-opaque medication (300 mg iohexaol/100 mL) were enrolled. They were randomized to have either high-dose NAC (1200 mg) plus saline hydration (Group 1, n=25) or only saline hydration (Group 2; n=20).

The relationship between peritoneal leukocyte count, fluid cultures, and clinical results in peritonitis among peritoneal dialysis patients: is there a geographic or ethnic difference?

We investigated peritoneal leukocyte count (PLC) and culture results for correlations with inflammation, nutrition, microbiologic parameters, and the effects of peritonitis on peritoneal equilibration tests (PETs) and clinical outcomes in peritoneal dialysis (PD) patients. The study group consisted of patients who had experienced peritonitis for the first time and who had been on PD for at least 6 months, with a PET performed both before and after the peritonitis episode. Only patients with an increased PLC were analyzed.

Study of ACEI versus ARB in managing hypertensive overt diabetic nephropathy: long-term analysis.

Background: There is, to our knowledge, no study that has directly compared angiotensin-converting enzyme inhibitor (ACEI) with angiotensin receptor blocker (ARB) in hypertensive patients with overt diabetic nephropathy (DNP). We tried to analyze the outcomes of hypertensive patients with overt type 2 DNP who used only ACEIs or ARBs.

Methods: The patients who had an estimated creatinine clearance <90 ml/min and hypertension or had been using antihypertensive drug(s) at presentation were included in the study.

Amyloidosis in a patient with autosomal dominant polycystic kidney disease and tuberculosis: a case report.

Autosomal-dominant polycystic kidney disease is an inherited disorder characterized by the development and growth of cysts in the kidneys. Urinary protein excretion is generally less than 1 g/day, and the association of the nephrotic syndrome with this condition is considered rare. A 39-year-old man with autosomal-dominant polycystic kidney disease and nephrotic-range proteiuria is described.

Pancreatic involvement in Von Hippel-Lindau disease.

Background: Involvement of the pancreas in Von Hippel-Lindau disease that is a tumor predisposing syndrome mentioned in literature with some morbid and mortal progression.

Aims: For evaluation the faith of the pancreatic involvement in VHL disease we analysed our patient population with VHL disease.

Materials And Methods: 12 of the 56 patients that were evaluated in our institute with the diagnosis of Von Hippel-Lindau disease had pancreatic involvement.

Alkaptonuria and renal failure: a case report.

In alkaptonuria, the absence of homogentisic acid oxidase (HGO) results in the accumulation of homogentisic acid (HGA) in the body. Associated renal failure is rare and usually occurs in the later stages of the disease. We report a 33-year-old male who presented, initially, with renal failure, but no past history of illness.