CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights.

Variants in the CHRNE gene can lead to a condition called congenital myasthenic syndrome (CMS), which affects the neuromuscular junction (NMJ). CHRNE mutations are the most common cause of CMS. Seventy-seven patients with a possible diagnosis of CMS were referred to the neuromuscular clinic of Shariati Hospital affiliated with the Tehran University of Medical Sciences.

Thinking globally, acting locally in the 21 century: Bamboo to bioproducts and cleaned mine sites.

Current solutions to global challenges place tension between global benefits and local impacts. The result is increasing opposition to implementation of beneficial climate policies. Prioritizing investment in projects with tangible local benefits that also contribute to global climate change can resolve this tension and make local communities' partners instead of antagonists to change; the approach advocated is a new take on "thinking globally, acting locally".

Colloid thermophoresis in surfactant solutions: Probing colloid-solvent interactions through microscale experiments.

Thermophoresis has emerged as a powerful tool for characterizing and manipulating colloids at the nano- and micro-scales due to its sensitivity to colloid-solvent interactions. The use of surfactants enables the tailoring of surface chemistry on colloidal particles and the tuning of interfacial interactions. However, the microscopic mechanisms underlying thermophoresis in surfactant solutions remain poorly understood due to the complexity of multiscale interaction coupling.

Droplet Electrophoresis with Internal Free Ions: Effect of Permittivity Changes in the Electric Double Layer.

Droplet electrophoresis (EP) is of interest in biological systems, microfluidics, and separation techniques. We investigate EP of an oil droplet that contains free ions and is stabilized in an electrolyte solution through an amphoteric surfactant. The presence of mobile ions within the droplet leads to the creation of a distinct nonzero space charge density inside the droplet and consequently, formation of an inner EDL inside the droplet in addition to the traditionally considered outside EDL.

On the temperature and emissivity of torrefied biomass and coal in group particle combustion.

This laboratory study reports results on the group particle combustion of pulverized bituminous coal and various types of torrefied biomass. Combustion of particle streams in a drop tube furnace in air was concurrently monitored by a spectrometer and an electronic camera to obtain spectral emissivities and temperatures. As particle number density (PND) increased, biomass particles became more prone than coal to group combustion.

DOK7 congenital myasthenic syndrome: case series and review of literature.

Background: Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than other CMS types.

Redefining high risk multiple myeloma with an APOBEC/Inflammation-based classifier.

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A Mode-Coupling Model of Colloid Thermophoresis in Aqueous Systems: Temperature and Size Dependencies of the Soret Coefficient.

Thermophoresis allows for the manipulation of colloids in systems containing a temperature gradient. A deep understanding of the phenomena at the molecular level allows for increased control and manipulation strategies. We developed a microscopic model revealing different coupling mechanisms for colloid thermophoresis under local thermodynamic equilibrium conditions.

Long noncoding RNA polymorphisms in gynecological cancers.

Gynecological malignancies are one of the main causes of cancer-induced mortality. Despite remarkable recent therapeutic advances, current therapeutic options are not sufficient. Regarding the effect of long noncoding RNAs (lncRNAs) on cell differentiation, proliferation and apoptosis, variations in their expression cause different anomalies, such as tumorigenesis.

LncRNA polymorphisms and lung cancer risk.

Lung cancer (LC) imposes a significant burden, and is associated with high mortality and morbidity among malignant tumors. Aberrant expression of particular lncRNAs is closely linked to LC. LncRNA polymorphisms cause abnormal expression levels and/or structural dysfunction.

FDA-approved machine learning algorithms in neuroradiology: A systematic review of the current evidence for approval.

Over the past decade, machine learning (ML) and artificial intelligence (AI) have become increasingly prevalent in the medical field. In the United States, the Food and Drug Administration (FDA) is responsible for regulating AI algorithms as "medical devices" to ensure patient safety. However, recent work has shown that the FDA approval process may be deficient.

Autonomous assessment of spontaneous retinal venous pulsations in fundus videos using a deep learning framework.

The presence or absence of spontaneous retinal venous pulsations (SVP) provides clinically significant insight into the hemodynamic status of the optic nerve head. Reduced SVP amplitudes have been linked to increased intracranial pressure and glaucoma progression. Currently, monitoring for the presence or absence of SVPs is performed subjectively and is highly dependent on trained clinicians.

FsaNet: Frequency Self-Attention for Semantic Segmentation.

Considering the spectral properties of images, we propose a new self-attention mechanism with highly reduced computational complexity, up to a linear rate. To better preserve edges while promoting similarity within objects, we propose individualized processes over different frequency bands. In particular, we study a case where the process is merely over low-frequency components.

Emerging Field-Effect Transistor Biosensors for Life Science Applications.

Field-effect transistors (FETs) have gained significant interest and hold great potential as groundbreaking sensing technology in the fields of biosensing and life science research [...

Iranian clinical practice guideline for amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegeneration involving motor neurons. The 3-5 years that patients have to live is marked by day-to-day loss of motor and sometimes cognitive abilities. Enormous amounts of healthcare services and resources are necessary to support patients and their caregivers during this relatively short but burdensome journey.

Colloid thermophoresis in the dilute electrolyte concentration regime: from theory to experiment.

Colloid thermophoresis in aqueous media is vital for numerous applications in nanoscience and life sciences. To date, a general description of colloid thermophoresis in DI water has not been determined. Here, we describe a theoretical model within the framework of the Fokker-Planck formalism and the flickering cluster concept to describe the hydration entropy effect on the thermophoretic behaviour of colloids suspended in DI water and compare this to new experimental results.

Simple sonochemical synthesis, characterization of TmVO nanostructure in the presence of Schiff-base ligands and investigation of its potential in the removal of toxic dyes.

Thulium vanadate (TmVO4) nanorods were successfully prepared by a simple sonochemical approach using Schiff-base ligands. Additionally, TmVO nanorods were employed as a photocatalyst. The most optimal crystal structure and morphology of TmVO4 have been determined and optimized by varying Schiff-base ligands, the molar ratio of H2Salen, the sonication time and power, and the calcination time.

Early Ambulation is Associated with Improved Outcomes Following Colorectal Surgery.

Background: The Enhanced Recovery After Surgery (ERAS) society lists early mobilization as one of their recommendations for improving patient outcomes following colorectal surgery. The level of supporting evidence, however, is relatively weak, and furthermore, the ERAS guidelines do not clearly define "early" mobilization. In this study, we define mobilization in terms of time to first ambulation after surgery and develop an outcome-based cutoff for early mobilization.

Patient Factors Affect Ergonomic Strain of Endoscopists During Colonoscopy.

Introduction: Endoscopic procedures place a great deal of muscular strain on providers, especially over the span of their careers. In this study we quantitatively analyzed the effects of patient factors such as age, body mass index, and sex on the ergonomics of endoscopists performing colonoscopies.

Methods: Surface electromyography (sEMG) was used to measure ergonomic strain of physicians while performing colonoscopies in several key muscle groups.

Diabetes as a Risk Factor for Perforated Appendicitis: A National Analysis.

Background: A few important risk factors play into rates of perforation following acute appendicitis. Diabetes may be an additional risk factor due to various systemic complications that may contribute to perforation and additional adverse outcomes following acute appendicitis, all of which currently remains unknown in the United States.

Methods: Adult patients with acute appendicitis under 65 years of age were identified from the National Inpatient Sample between 2012 and 2014 and the distribution of baseline variables was examined across diabetic status using Rao-Scott chi square and student's t-test.

ChromoEnhancer: An Artificial-Intelligence-Based Tool to Enhance Neoplastic Karyograms as an Aid for Effective Analysis.

Cytogenetics laboratory tests are among the most important procedures for the diagnosis of genetic diseases, especially in the area of hematological malignancies. Manual chromosomal karyotyping methods are time consuming and labor intensive and, hence, expensive. Therefore, to alleviate the process of analysis, several attempts have been made to enhance karyograms.

Facilitators and Barriers to Clinical Pathway Uptake and Utilization Among Primary Care Providers in Saskatchewan - A Qualitative Study.

Purpose: Clinical Pathways (CPWs) are multidisciplinary, evidence-based, complex interventions designed to standardize patient care. In Saskatchewan, development, implementation and evaluation of the seven provincial CPWs (Hip & Knee, Spine, Pelvic Floor, Prostate Assessment, Fertility Care, Lower Extremity Wound Care and Acute Stroke) present significant challenges, leading to low utilization. This study aimed to identify facilitators and barriers to CPW utilization by Saskatchewan family physicians.

Trends in utilization of laparoscopic colectomy according to race: an analysis of the NIS database.

Background: Laparoscopic colectomy has been associated with improved recovery and decreased complications when compared to an open approach. Consequently, the rates of laparoscopic colectomy have increased. Race has been identified as a factor that influences a patient's likelihood of undergoing laparoscopic colectomy.