Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.

Background: Plectinopathy-associated disorders are caused by mutations in the gene encoding Plectin protein. mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q). Here we report three cases with EBS-MD and LGMD2Q disorders analyzed by exome sequencing followed by mutation confirmation.

App-based assessment of patient-reported outcomes in the Molecular Tumor Board in the Center for Personalized Medicine-(TRACE).

Background: Biomarker-based therapies are increasingly used in cancer patients outside clinical trials. Systematic assessment of patient-reported outcomes (PRO) is warranted to take patients' perspectives during biomarker-based therapies into consideration. We assessed the feasibility of an electronic PRO assessment via a smartphone application.

Role of CT attenuation correction gated SPECT MPI in prediction of pulmonary hypertension.

Objective: To elucidate the value of gated SPECT-MPI using CT attenuation correction (AC) for prediction of pulmonary hypertension (PHT) in coronary patients by estimation of reliability of non-contrast CT in measurement of main pulmonary artery diameter (MPAd) as well as by assessment of potential predictive role of gated parameters as beneficial accessory findings.

Background: Contrast-enhanced CT is known as an accurate tool for assessment of MPAd to predict PHT. [1] The low-dose non-contrast CT which is used for AC in MPI study, however, has an unclear value in precise vascular diameter measurement; it is also uncertain whether gated parameters could help to predict PHT.

Chromosome-level organization of the regulatory genome in the Drosophila nervous system.

Previous studies have identified topologically associating domains (TADs) as basic units of genome organization. We present evidence of a previously unreported level of genome folding, where distant TAD pairs, megabases apart, interact to form meta-domains. Within meta-domains, gene promoters and structural intergenic elements present in distant TADs are specifically paired.

Diagnosis of Fungal Infection () After Heart Transplantation in a Pediatric Case with Fever of Unknown Origin: Role of Tc-UBI SPECT/CT and F-FDG PET/CT.

The diagnosis of patients with fever of unknown origin (FUO) in pediatric heart transplantation is a challenging medical problem. The physician should differentiate between rejections, infections, malignancy, adrenal insufficiency, and drug fever. Immunosuppressive therapy in these patients exposes them to a high risk of developing a post-transplantation fungal infection.

Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous system.

Background: The clinical utility of molecular profiling and targeted therapies for neuro-oncology patients outside of clinical trials is not established. We aimed at investigating feasibility and clinical utility of molecular profiling and targeted therapy in adult patients with advanced tumors in the nervous system within a prospective observational study.

Methods: molecular tumor board (MTB)@ZPM (NCT03503149) is a prospective observational precision medicine study for patients with advanced tumors.

A Rare Case of Coexistence Ectopic Lingual Thyroid and Thyroglossal Cyst with Tc 99 m Thyroid Scintigraphy.

Lingual thyroid is a very rare anomaly and is usually incidentally found in patients that have hypothyroidism or mass in throat. This case however had another mass in the submandible with diagnosis of thyroglossal cyst. Thyroglossal duct cyst is the most common congenital neck mass.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family.

Extensive Venous Tumor Thrombi in a Case of Malignant Melanoma: Role of 18F FDG PET/CT.

The 18F-FDG PET/CT imaging is a non-invasive modality for diagnosis and staging of metastatic melanoma. Venous thromboembolism (VTE) is a common complication of cancers, which needs anticoagulant therapy. Tumor thrombosis (TT), on the other hand, is an infrequent complication of solid malignancies that may need aggressive management.

Mathematical analysis of the role of pituitary-adrenal interactions in ultradian rhythms of the HPA axis.

The hypothalamic-pituitary-adrenal (HPA) axis is a biological system in the human body that plays an important role in controlling stress and regulating various physiological elements, including the immune system, emotions, and moods in tense situations. Over the past two decades, several ordinary or delay differential equations models of the HPA axis have been proposed. In the majority of studies presented so far, corticotropin-releasing hormone (CRH), adrenocorticotropic hormone (ACTH), and cortisol are among the main variables employed to build the HPA axis models.

Role of Technetium-99m-Ethylenedicysteine in the Calculation of Differential Renal Function: A Comparison Study with Dimercaptosuccinic Acid Renal Scintigraphy.

Purpose Of The Study: The aim of our study was to compare the technetium-99m (Tc-99m)-ethylenedicysteine (EC) renography calculation of differential renal function (DRF) with this measurement using Tc-99m-dimercaptosuccinic acid (DMSA) scintigraphy.

Materials And Methods: Patients referred to our department were included in our study, and both DMSA and EC scans were performed for each patient according to the standard imaging protocols. A checklist was filled for each patient.

Early Detection of Rhabdomyolysis-Induced Acute Kidney Injury through Machine Learning Approaches.

Introduction: Rhabdomyolysis-induced acute kidney injury (AKI) is one of the most common complications of catastrophic incidents, especially earthquakes. Early detection of AKI can reduce the burden of the disease. In this paper, data collected from the Bam earthquake was used to find a suitable model that can be used in prediction of AKI in the early stages of the disaster.

Assessment of LV diastolic dysfunction in myocardial perfusion imaging: a correlative study with transthoracic echocardiography.

Objective: Myocardial perfusion imaging (MPI) by gated single-photon emission computed tomography (SPECT) is a feasible method in the evaluation of left ventricular perfusion and function. The purpose of this study was to determine the threshold and grading of left ventricular (LV) diastolic dysfunction (LVDD) using gated SPECT MPI.

Methods: A total of 149 patients were recruited in the study.

Determining the Need for Computed Tomography Scan Following Blunt Chest Trauma through Machine Learning Approaches.

Introduction: The use of computed tomography (CT) scan is essential for making diagnoses for trauma patients in emergency medicine. Numerous studies have been conducted on guiding medical examinations in light of advances in machine learning, leading to more accurate and rapid diagnoses. The present study aims to propose a machine learning-based method to help emergency physicians prevent performance of unnecessary CT scans for chest trauma patients.

Liraglutide Effect on Ventricular Transient Outward K + Channel and Connexin-43 Protein Expression.

Background: Human glucagon-like peptide-1 analogue, Liraglutide, has shown cardioprotective effects in animal and clinical studies of type 2 diabetes mellitus. This study was conducted to assess the effect of Liraglutide on diabetes-induced myocardial electrical remodeling.

Materials And Methods: A rat model of type 2 diabetes mellitus was induced by high-fat diet and low dose Streptozotocin (35 mg/kg).

Cardiac SPECT radiomic features repeatability and reproducibility: A multi-scanner phantom study.

Background: The aim of this work was to assess the robustness of cardiac SPECT radiomic features against changes in imaging settings, including acquisition, and reconstruction parameters.

Methods: Four commercial SPECT and SPECT/CT cameras were used to acquire images of a static cardiac phantom mimicking typical myorcardial perfusion imaging using 185 MBq of Tc. The effects of different image acquisition and reconstruction parameters, including number of views, view matrix size, attenuation correction, as well as image reconstruction related parameters (algorithm, number of iterations, number of subsets, type of post-reconstruction filter, and its associated parameters, including filter order and cut-off frequency) were studied.

[Clinical semiology of anemia in patients over 75 years: a prospective study conducted in France by the SiFMI group].

Introduction: Anemia remains one of the main concerns of the day-today life of Internist since it ranks third among the pathologies seen in Internal Medicine Departments.

Objective: it seemed appropriate for the SiFMI Group (Common Situations in Internal Medicine of the SNFMI) to carry out a study of anemia evaluating the contribution to the diagnosis of the «classical» semiology of the anemic syndrome. This work reports the results from the study of 204 patients aged 75 years and more.

Effects of nicorandil on vascular and renal dysfunctions in adenine-induced nephropathy: Possible underlying mechanisms.

Vascular dysfunctions in chronic kidney disease (CKD) include endothelial dysfunctions and vascular calcification (VC). In the present study, we examined the possible protective effect of nicorandil (potassium channel opener) on renal and vascular dysfunctions in a rat model of adenine-induced nephropathy and its underlying mechanisms. Thirty-four male Sprague-Dawley rats were randomly allocated into 3 groups: Control group, Adenine group (animals received high-adenine diet for 4 weeks), and Nicorandil group (animals received adenine for 4 weeks and nicorandil 1 mg/kg per oral for 4 weeks).

Applications of Machine Learning Approaches in Emergency Medicine; a Review Article.

Using artificial intelligence and machine learning techniques in different medical fields, especially emergency medicine is rapidly growing. In this paper, studies conducted in the recent years on using artificial intelligence in emergency medicine have been collected and assessed. These studies belonged to three categories: prediction and detection of disease; prediction of need for admission, discharge and also mortality; and machine learning based triage systems.

Temporal processing of past and future autobiographical events in patients with schizophrenia.

People with schizophrenia experience difficulties in remembering their past and envisioning their future. However, while alterations of event representation are well documented, little is known about how personal events are located and ordered in time. Using a think-aloud procedure, we investigated which strategies are used to determine the times of past and future events in 30 patients with schizophrenia and 30 control participants.

The roles of apoptosis, autophagy and unfolded protein response in arbovirus, influenza virus, and HIV infections.

Virus infection induces different cellular responses in infected cells. These include cellular stress responses like autophagy and unfolded protein response (UPR). Both autophagy and UPR are connected to programed cell death I (apoptosis) in chronic stress conditions to regulate cellular homeostasis via Bcl2 family proteins, CHOP and Beclin-1.