Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.

Whole-exome sequencing (WES), a ground-breaking technology, has emerged as a linchpin in neurology and neurosurgery, offering a comprehensive elucidation of the genetic landscape of various neurological disorders. This transformative methodology concentrates on the exonic portions of DNA, which constitute approximately 1% of the human genome, thus facilitating an expedited and efficient sequencing process. WES has been instrumental in advancing our understanding of neurodegenerative diseases, neuro-oncology, cerebrovascular disorders, and epilepsy by revealing rare variants and novel mutations and providing intricate insights into their genetic complexities.

Arab founder variants: Contributions to clinical genomics and precision medicine.

Background: Founder variants are ancestral variants shared by individuals who are not closely related. The large effect size of some of these variants in the context of Mendelian disorders offers numerous precision medicine opportunities.

Methods: Using one of the largest datasets on Mendelian disorders in the Middle East, we identified 2,908 medically relevant founder variants derived from 18,360 exomes and genomes and investigated their contribution to the clinical annotation of the human genome.

Feasibility, safety and efficacy of endoscopic submucosal dissection for recurrent superficial rectal neoplastic lesions after transanal microsurgery.

Background And Aims: We aimed to evaluate the feasibility, safety and efficacy of endoscopic submucosal dissection for recurrent rectal neoplastic lesions after transanal microsurgery of superficial rectal neoplasms.

Methods: Multicenter retrospective study.

Main Outcomes: recurrence at first endoscopic follow-up, En bloc, R0 and curative resections.

Theranostics Advances in the Treatment and Diagnosis of Neurological and Neurosurgical Diseases.

Theranostics represents a significant advance in the fields of neurology and neurosurgery, offering innovative approaches that combine the diagnosis and treatment of various neurological disorders. This innovation serves as a cornerstone of personalized medicine, where therapeutic strategies are closely integrated with diagnostic tools to enable precise and targeted interventions. Primary research results emphasize the profound impact of theranostics in Neuro Oncol.

Factors Influencing the Selection of Dentistry as a Career Among Prospective Candidates: A Multicentre Cross-Sectional Study.

Objective: This study aimed to analyse the impact of sociodemographic factors on dental school candidates' decision to pursue dentistry as their career of choice.

Materials And Methods: Candidates shortlisted by three dental schools were invited to participate in a self-administered questionnaire study, featuring a validated instrument containing sociodemographic questions and 16 motivational items grouped into four domains: economic, professional, vocational and personal background reasons. The variations in motivational item scores across sociodemographic factors were assessed using the Mann-Whitney U test (age, sex, ethnicity, having relatives in the dental profession and dentistry as the first choice) and Kruskal-Wallis test (dental school and family income).

Novel insights into the role of TREM2 in cerebrovascular diseases.

Cerebrovascular diseases (CVDs) include conditions such as stroke, cerebral amyloid angiopathy (CAA) and cerebral small vessel disease (CSVD), which contribute significantly to global morbidity and healthcare burden. The pathophysiology of CVD is complex, involving inflammatory, cellular and vascular mechanisms. Recently, research has focused on triggering receptor expressed on myeloid cells 2 (TREM2), an immune receptor predominantly found on microglia.

Associations between risk factors, including approximal contact types and dental caries in children from low-income families. Pilot study.

The present cross-sectional study was conducted to evaluate various caries risk factors in children from low socio-economic groups and to assess if children with broad contacts between one or more primary molars (type I and S) should be categorized as at high caries risk. Clinical examinations were performed on 107, 3- to 10-year-old children from low socio-economic settings. Contact types along with other caries risk factors (insurance, diet, plaque, and fluoride use, and diet habits) were analyzed for effect on presence of caries lesions (prevalence) and caries experience (decayed, missing, filled teeth).

Combined Lactate Glucose Ratio as a Novel Marker for Rapid Diagnosis of Cerebrospinal Fluid Bacterial Infection in Neurosurgical Patients: Diagnostic Accuracy Study and Benchtop Analyzer Correlation.

Objective: This study aimed to assess the diagnostic accuracy of a novel marker, the combined lactate glucose ratio (CLGR), in identifying cerebrospinal fluid (CSF) bacterial infection (CBI) in neurosurgical patients. Additionally, it seeks to establish cutoff values for CLGR and evaluate the reliability of measurement using blood gas analyzer (BGA).

Methods: CSF samples were collected from 2 neurosurgical centers in Kuala Lumpur, Malaysia, between January 2022 and October 2023.

Profiling of autoantibodies in the sera of glioblastoma patients.

This study aimed to determine the expression pattern of autoantibody proteins from the serum of grade IV glioblastoma patients. We performed high throughput antibody profiling via the Sengenics i-Ome Protein Array to determine the differentially expressed autoantibodies. The results portrayed that anti-COL4A3BP and anti-HSP90AA1 were among the upregulated autoantibodies in glioblastoma sera.

A Locked Posterior Shoulder Dislocation: An Injury Not to Miss.

Locked posterior shoulder dislocations are dislocations that remain unreduced for more than three weeks. In most cases, they are associated with other injuries. We report the case of a 38-year-old male who presented with pain and total functional impotence due to a complex injury, including posterior glenohumeral dislocation, a reverse Hill-Sachs lesion, and a clavicle fracture.

Neuroprotective roles of flavonoid "hispidulin" in the central nervous system: A review.

Interest in naturally occurring phytochemicals has been on the increase, they are believed to reduce the risk of brain disorders. Hispidulin (HN) is a phenolic flavonoid compound with various pharmacological and biological effects on the central nervous system. It belongs to the flavone class of flavonoids.

Age-related effects on absolute and relative isokinetic knee extensor strength in community-dwelling older men and women at a French geriatric day hospital.

Purpose: Isokinetic knee extensor strength is poorly evaluated in geriatric day hospitals (GDHs), despite its potential functional significance compared to grip strength. This study aimed to investigate age-related effects on absolute and relative isokinetic knee extensor peak torque (KEPT) data in community-dwelling older GDH patients.

Methods: A total of 472 French GDH patients (179 men and 293 women, aged 75-94 years) participated in this study.

Volume detection based on porous silicon waveguide for CO mid-infrared spectroscopy.

A mid-infrared (mid-IR) porous silicon (PSi) waveguide gas sensor was fabricated. PSi guiding and confinement layers were prepared by electrochemical anodization. Ridge waveguides were patterned using standard i-line photolithography and reactive ion etching.

Bridging Minds and Machines: The Recent Advances of Brain-Computer Interfaces in Neurological and Neurosurgical Applications.

Brain-computer interfaces (BCIs), a remarkable technological advancement in neurology and neurosurgery, mark a significant leap since the inception of electroencephalography in 1924. These interfaces effectively convert central nervous system signals into commands for external devices, offering revolutionary benefits to patients with severe communication and motor impairments due to a myriad of neurological conditions like stroke, spinal cord injuries, and neurodegenerative disorders. BCIs enable these individuals to communicate and interact with their environment, using their brain signals to operate interfaces for communication and environmental control.

Tunable Neuromorphic Switching Dynamics via Porosity Control in Mesoporous Silica Diffusive Memristors.

In response to the growing need for efficient processing of temporal information, neuromorphic computing systems are placing increased emphasis on the switching dynamics of memristors. While the switching dynamics can be regulated by the properties of input signals, the ability of controlling it via electrolyte properties of a memristor is essential to further enrich the switching states and improve data processing capability. This study presents the synthesis of mesoporous silica (mSiO) films using a sol-gel process, which enables the creation of films with controllable porosities.

A Clustering-Based Approach to Functional and Biomechanical Parameters Recorded with a Pair of Smart Eyeglasses in Older Adults in Order to Determine Physical Performance Groups.

Falls and frailty status are often associated with a decline in physical capacity and multifactorial assessment is highly recommended. Based on the functional and biomechanical parameters measured during clinical tests with an accelerometer integrated into smart eyeglasses, the purpose was to characterize a population of older adults through an unsupervised analysis into different physical performance groups. A total of 84 participants (25 men and 59 women) over the age of sixty-five (age: 74.

Experience with colostomy and colostomy reversal in children in Bauchi.

Background: Colostomy is one of the common surgical procedures performed in pediatric surgical practice. The aim of this study was to retrospectively review our experience with colostomy and closure (reversal) in children.

Patients And Methods: A retrospective review of the data of all children aged 15 years and below who had colostomy and colostomy closure in the past 5 years.

Therapeutic potentials of iridoids derived from Rubiaceae against in vitro and in vivo inflammation: A scoping review.

Acute inflammation may develop into chronic, life-threatening inflammation-related diseases if left untreated or if there are persistent triggering factors. Cancer, diabetes mellitus, stroke, cardiovascular diseases, and neurodegenerative disorders are some of the inflammation-related diseases affecting millions of people worldwide. Despite that, conventional medical therapy such as non-steroidal anti-inflammatory drugs (NSAIDs) is associated with serious adverse effects; hence, there is an urgent need for a newer and safer therapeutic alternative from natural sources.

Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.

ALDH1L2, a mitochondrial enzyme in folate metabolism, converts 10-formyl-THF (10-formyltetrahydrofolate) to THF (tetrahydrofolate) and CO. At the cellular level, deficiency of this NADP-dependent reaction results in marked reduction in NADPH/NADP ratio and reduced mitochondrial ATP. Thus far, a single patient with biallelic ALDH1L2 variants and the phenotype of a neurodevelopmental disorder has been reported.