A missense mutation in the gene in a patient with autism spectrum disorder and epilepsy.

The gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with mutations remains limited.

Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.

Hereditary thoracic aorta diseases (HTADs) are a heterogeneous group of rare disorders whose major manifestation is represented by aneurysm and/or dissection frequently located at the level of the ascending thoracic aorta. The diseases have an insidious evolution and can be encountered as an isolated manifestation or can also be associated with systemic, extra-aortic manifestations (syndromic HTADs). Along with the development of molecular testing technologies, important progress has been made in deciphering the heterogeneous etiology of HTADs.

Enrichment strategy and initial characterization of heterodimers enriched from a co-formulated cocktail of therapeutic antibodies against SARS-COV-2.

Co-formulation of multiple drug products is an efficient and convenient approach to simultaneously deliver multiple biotherapeutics with the potentially added benefit of a synergistic therapeutic effect. However, co-formulation also increases the risk of heteromeric interactions, giving rise to unique impurities with unknown efficacy and immunogenicity. Therefore, it is critical to develop methods to evaluate the risk of heteromers as an impurity that could affect potency, efficacy, and/or immunogenicity.

Aryl Hydrocarbon Receptor Involvement in the Sodium-Dependent Glutamate/Aspartate Transporter Regulation in Cerebellar Bergmann Glia Cells.

Glutamate, the major excitatory neurotransmitter in the vertebrate brain, exerts its functions through the activation of specific plasma membrane receptors and transporters. Overstimulation of glutamate receptors results in neuronal cell death through a process known as excitotoxicity. A family of sodium-dependent glutamate plasma membrane transporters is responsible for the removal of glutamate from the synaptic cleft, preventing an excitotoxic insult.

Description of an activity-based enzyme biosensor for lung cancer detection.

Background: Lung cancer is associated with the greatest cancer mortality as it typically presents with incurable distributed disease. Biomarkers relevant to risk assessment for the detection of lung cancer continue to be a challenge because they are often not detectable during the asymptomatic curable stage of the disease. A solution to population-scale testing for lung cancer will require a combination of performance, scalability, cost-effectiveness, and simplicity.

Therapeutic challenges in epidermal inclusion cysts with periocular localization: case reports.

Epidermal inclusion cysts in the periocular region are distinctive pathologies exhibiting varied clinical and radiological features, and they should be taken into consideration in the differential diagnosis of cystic lesions near the orbit. This article discusses the clinical and radiological details, along with the surgical results, of two individual cases of epidermal inclusion cysts, with different localization and without any preceding trauma, surgical history, or eyelid inflammation. In the first case, a substantial spherical structure closely connected to the tarsal plate was identified via excisional biopsy, whereas the second case involved a soft, oval tumor located at the outer right orbital corner, as determined clinically and validated through computed tomography.

Preventing Dementia-A Cross-Sectional Study of Outpatients in a Tertiary Internal Medicine Department.

Dementia is a significant health problem worldwide, being the seventh leading cause of death (2,382,000 deaths worldwide in 2016). Recent data suggest there are several modifiable risk factors that, if addressed, can decrease dementia risk. Several national dementia screening programs exist; however, limited-income countries do not have the means to implement such measures.

Aryl Hydrocarbon Receptor in Glia Cells: A Plausible Glutamatergic Neurotransmission Orchestrator.

Glutamate is the major excitatory amino acid in the vertebrate brain. Glutamatergic signaling is involved in most of the central nervous system functions. Its main components, namely receptors, ion channels, and transporters, are tightly regulated at the transcriptional, translational, and post-translational levels through a diverse array of extracellular signals, such as food, light, and neuroactive molecules.

Factors Associated with Burnout in Healthcare Professionals.

Unlabelled: Burnout in healthcare professionals remains an ongoing concern. There are a number of variables associated with reactivity to stress in healthcare staff. This study wants to identify risk factors which predispose healthcare professionals to burnout.

Copper-carbon hybrid nanoparticles as antimicrobial additives.

Unlabelled: Millions of cases of hospital-acquired infections occur every year involving difficult to treat bacterial and fungal agents. In an effort to improve patient outcomes and provide better infection control, antimicrobial coatings are ideal to apply in clinical settings in addition to aseptic practices. Most efforts involving effective antimicrobial surface technologies are limited by toxicity of exposure due to the diffusion.

Cardiac Biomarkers and Risk Scores in Relation with History of Atherosclerotic Cardiovascular Disease in Patients Admitted with COVID-19: The Experience of an Eastern European Center.

Background: Data regarding the combined prognostic role of biomarkers and risk scores in relation with the history of atherosclerotic cardiovascular disease (ASCVD) in COVID-19 patients are lacking.

Methods: The aim of this observational cohort study was to evaluate the combined prognostic value of N-terminal pro B-type natriuretic peptide (NT-pro BNP), troponin and risk scores in relation with ASCVD history in hospitalized COVID-19 patients. The primary composite endpoint was Intensive Care Unit (ICU) admission and death.

Chronic Coronary Syndrome in Frail Old Population.

The demographic trend of aging is associated with an increased prevalence of comorbidities among the elderly. Physical, immunological, emotional and cognitive impairment, in the context of the advanced biological age segment, leads to the maintenance and precipitation of cardiovascular diseases. Thus, more and more data are focused on understanding the pathophysiological mechanisms underlying each fragility phenotype and how they potentiate each other.

Enhanced Robustness of the Mouse Retinal Circadian Clock Upon Inherited Retina Degeneration.

Daily biological rhythms are fundamental to retinal physiology and visual function. They are generated by a local circadian clock composed of a network of cell type/layer-specific, coupled oscillators. Animal models of retinal degeneration have been instrumental in characterizing the anatomical organization of the retinal clock.

Intrinsic differences in rod and cone membrane composition: implications for cone degeneration.

Purpose: In many retinal pathological conditions, rod and cone degeneration differs. For example, the early-onset maculopathy Stargardts disease type 1 (STGD1) is typified by loss of cones while rods are often less affected. We wanted to examine whether there exist intrinsic membrane differences between rods and cones that might explain such features.

Effects of Setting on Psychedelic Experiences, Therapies, and Outcomes: A Rapid Scoping Review of the Literature.

The health and well-being impacts of art and aesthetic experiences have been rigorously studied by a range of disciplines, including cognitive neuroscience, psychiatry, public health, and translational clinical research. These experiences, encompassed in the concepts of set and setting, have long been claimed to be pivotal in determining the acute and enduring effects of psychedelic experiences. Responding to the field's longstanding emphasis on the role and value of setting, a rapid scoping review was undertaken to identify the extent to which effects of setting and aesthetics on psychedelic experiences and therapies have been explicitly studied.

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.

Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug-resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic and environmental factors. In the present study, a cohort of 15 pediatric patients with brain heterotopia were investigated by clinical examination, electroencephalographic studies, brain imaging, and genomic tests.

Dark-adapted light response in mice is regulated by a circadian clock located in rod photoreceptors.

The retinal circadian system consists of a network of clocks located virtually in every retinal cell-type. Although it is established that the circadian clock regulates many rhythmic processes in the retina, the links between retinal cell-specific clocks and visual function remain to be elucidated. Bmal1 is a principal, non-redundant component of the circadian clock in mammals and is required to keep 24 h rhythms in the retinal transcriptome and in visual processing under photopic light condition.

Exploring the prevalence and profile of epilepsy across Europe using a standard retrospective chart review: Challenges and opportunities.

Objective: This study aimed to determine the prevalence of epilepsy in four European countries (Austria, Denmark, Ireland, and Romania) employing a standard methodology. The study was conducted under the auspices of ESBACE (European Study on the Burden and Care of Epilepsy).

Methods: All hospitals and general practitioners serving a region of at least 50 000 persons in each country were asked to identify patients living in the region who had a diagnosis of epilepsy or experienced a single unprovoked seizure.

Real-World Data Regarding Long-Term Administration of Natalizumab Derived from a Neurology Department along with Literature Review.

Background: Natalizumab is a humanized monoclonal antibody with high efficacy and an acceptable safety profile used in the treatment of patients with multiple sclerosis (MS).

Objective: Our aim was to report data regarding long-term administration of Natalizumab in patients with Relapsing-Remitting Multiple Sclerosis (RRMS) from our clinic.

Methods: A retrospective observational study was performed including RRMS patients who underwent treatment with ≥ 24 Natalizumab infusions.

Self-Assembly of Angiotensin-Converting Enzyme Inhibitors Captopril and Lisinopril and Their Crystal Structures.

The peptide angiotensin-converting enzyme inhibitors captopril and lisinopril are unexpectedly shown to exhibit critical aggregation concentration (CAC) behavior through measurements of surface tension, electrical conductivity, and dye probe fluorescence. These three measurements provide similar values for the CAC, and there is also evidence from circular dichroism spectroscopy for a possible conformational change in the peptides at the same concentration. Cryogenic transmission electron microscopy indicates the formation of micelle-like aggregates above the CAC, which can thus be considered a critical micelle concentration, and the formation of aggregates with a hydrodynamic radius of ∼6-7 nm is also evidenced by dynamic light scattering.

Functional Ability Classification Based on Moderate and Severe Kinesophobia and Demoralization Scores in Degenerative Spine Patients.

Study Design: A prospective cohort study.

Objective: To assess the relationship of fear avoidance and demoralization on gait and balance and determine a threshold score for the Tampa Scale for Kinesophobia (TSK) and the Demoralization Scale (DS) that identifies spine patients with gait and balance dysfunction amplified by underlying psychological factors.

Summary Of Background Data: Fear avoidance and demoralization are crucial components of mental health that impact the outcomes in spine surgery.

Prognostic Factors in COVID-19 Patients With New Neurological Manifestations: A Retrospective Cohort Study in a Romanian Neurology Department.

The emerging Coronavirus Disease (COVID-19) pandemic caused by Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a serious public health issue due to its rapid spreading, high mortality rate and lack of specific treatment. Given its unpredictable clinical course, risk assessment, and stratification for severity of COVID-19 are required. Apart from serving as admission criteria, prognostic factors might guide future therapeutic strategies.

Core circadian clock genes Per1 and Per2 regulate the rhythm in photoreceptor outer segment phagocytosis.

Retinal photoreceptors undergo daily renewal of their distal outer segments, a process indispensable for maintaining retinal health. Photoreceptor outer segment (POS) phagocytosis occurs as a daily peak, roughly about 1 hour after light onset. However, the underlying cellular and molecular mechanisms which initiate this process are still unknown.

The Use of Music in the Treatment and Management of Serious Mental Illness: A Global Scoping Review of the Literature.

Mental and substance use disorders have been identified as the leading cause of global disability, and the global burden of mental illness is concentrated among those experiencing disability due to serious mental illness (SMI). Music has been studied as a support for SMIs for decades, with promising results; however, a lack of synthesized evidence has precluded increased uptake of and access to music-based approaches. The purpose of this scoping review was to identify the types and quantity of research at intersections of music and SMIs, document evidentiary gaps and opportunities, and generate recommendations for improving research and practice.

Gestational diabetes - modern management and therapeutic approach (Review).

Gestational diabetes mellitus is an important healthcare problem with serious implications both to the mother and to the foetus. The necessity of clear screening criteria for the pregnant woman and also identifying from an early stage the risk groups can be beneficial instruments for better management of gestational diabetes. The present report identify the main screening criteria for patients at risk for gestational diabetes and the therapeutic-nutritional therapy for women that have gestational diabetes.