Secondary glaucoma as a late complication of a primary iris stromal cyst.

An 18-year-old woman with a congenital iris stromal cyst was referred for sudden-onset increased intraocular pressure (IOP) that did not respond to medical therapy. Ultrasound biomicroscopy demonstrated synechial angle closure from 9:00 to 12:00 in addition to a large cyst occupying much of the inferior angle. After implantation of an Ahmed glaucoma valve, her visual acuity returned to baseline, and IOP normalized.

Human genetics and genomics as a unifying factor for harmony and progress in Africa: a report from the 12 African Society of Human Genetics meeting in Bamako, Mali.

Since its inception in 2003, the African Society of Human Genetics (AfSHG) has been central to the promotion of genetics research on the continent, and facilitated the networking of African researchers within Africa and abroad, thereby significantly contributing to the career development of African geneticists. The continuation of these accomplishments was stimulated by the 12 international conference of AfSHG held jointly with the 1 Congress of the Malian Society of Human Genetics (MSHG) in Bamako, Mali from September 18 to 21 2019. The main theme of the conference was "Human Genetics and Genomics as a Unifying Factor for Harmony and Progress in Africa".

Search for a genetic cause of variably protease-sensitive prionopathy.

Variably protease-sensitive prionopathy (VPSPr) is a rare, atypical subtype of prion disease in which many patients exhibit a family history of dementia. Rare protein-coding variants in , which are causal for all known forms of genetic prion disease, have been ruled out in all VPSPr cases to date, leading to suspicion that VPSPr could be caused by variants in other genes or by non-coding variation in or near . We performed exome sequencing and targeted sequencing of non-coding regions on genomic DNA from autopsy-confirmed VPSPr patients (N=67) in order to search for a possible genetic cause.

Direct Prosthesis Force Control with Tactile Feedback May Connect with the Internal Model.

Introduction: Dynamic modulation of grip occurs mainly within the major structures of the brain stem, in parallel with cortical control. This basic, but fundamental level of the brain, is robust to ill-formed feedback and to be useful, it may not require all the perceptual information of feedback we are consciously aware. This makes it viable candidate for using peripheral nerve stimulation (PNS), a form of tactile feedback that conveys intensity and location information of touch well but does not currently reproduce other qualities of natural touch.

Gender and Authorship in Annals of Surgery: A nineteen-year review including the pandemic.

Objective: We examined article submission data from the Annals of Surgery to assess gender bias in publishing.

Background: Medicine has long been a male-dominated practice, particularly in surgical fields. A key criterion for promotion in academic medicine is the publication record.

Can Wearable Technology Help Guide Dieting Safety?

Background: The safety of dietary interventions is often unmonitored. Wearable technology can track elevations in resting heart rate (RHR), a marker of physiologic stress, which may provide safety information that is incremental to self-reported data.

Methods: A single subject was placed on an isocaloric diet for four weeks.

Examination of MGMT as a risk gene for dementia in the Amish.

Introduction: Recently, the O-6-methylguanine-DNA methyltransferase (MGMT) locus was proposed as influencing the risk of Alzheimer's disease (AD) in women who did not carry the apolipoprotein E ε4 allele. We examined an Amish founder population for any influence of genetic variation in and around the MGMT locus on the risk for dementia.

Methods: Genetic association was performed for single nucleotide polymorphisms (SNPs) surrounding the MGMT locus.

Impact of transcranial Doppler screening on stroke prevention in children and adolescents with sickle cell disease: A systematic review and meta-analysis.

Background: Children with sickle cell disease (SCD) have increased stroke risk, identifiable by elevated velocities on transcranial Doppler (TCD). This review assessed the impact of TCD screening on stroke, mortality, quality of life and morbidity in children with SCD.

Methods: A systematic search of MEDLINE, PubMed, Cochrane libraries, and trial registries was conducted from inception to 28th February 2023.

External validation of predictive models for antibiotic susceptibility of urine culture.

Objective: To develop, externally validate, and test a series of computer algorithms to accurately predict antibiotic susceptibility test (AST) results at the time of clinical diagnosis, up to 3 days before standard urine culture results become available, with the goal of improving antibiotic stewardship and patient outcomes.

Patients And Methods: Machine learning algorithms were developed and trained to predict susceptibility or resistance using over 4.7 million discrete AST classifications from urine cultures in a cohort of adult patients from outpatient and inpatient settings from 2012 to 2022.

Effectiveness of the primary Bacillus Calmette-Guérin vaccine against the risk of Mycobacterium tuberculosis infection and tuberculosis disease: a meta-analysis of individual participant data.

Background: Tuberculosis vaccine trials using disease as the primary endpoint are large, time consuming, and expensive. An earlier immunological measure of the protection against disease would accelerate tuberculosis vaccine development. We aimed to assess whether the effectiveness of the Bacillus Calmette-Guérin (BCG) vaccine for prevention of Mycobacterium tuberculosis infection was consistent with that for prevention of tuberculosis disease.

The N-degron pathway mediates the autophagic degradation of cytosolic mitochondrial DNA during sterile innate immune responses.

The human body reacts to tissue damage by generating damage-associated molecular patterns (DAMPs) that activate sterile immune responses. To date, little is known about how DAMPs are removed to avoid excessive immune responses. Here, we show that proteasomal dysfunction induces the release of mitochondrial DNA (mtDNA) as a DAMP that activates the cyclic GMP-AMP synthase (cGAS)-stimulator of interferon gene (STING) pathway and is subsequently degraded through the N-degron pathway.

BCKDK loss impairs mitochondrial Complex I activity and drives alpha-synuclein aggregation in models of Parkinson's disease.

Mitochondrial dysfunction and α-synuclein (αSyn) aggregation are key contributors to Parkinson's Disease (PD). While genetic and environmental risk factors, including mutations in mitochondrial-associated genes, are implicated in PD, the precise mechanisms linking mitochondrial defects to αSyn pathology remain incompletely understood, hindering the development of effective therapeutic interventions. Here, we identify the loss of branched chain ketoacid dehydrogenase kinase (BCKDK) as a mitochondrial risk factor that exacerbates αSyn pathology by disrupting Complex I function.

Asthma Exacerbation Risk in Pregnancy and Postpartum: Assessing the Impact of Gestational Diabetes Mellitus and Other Key Factors.

Background: Asthma, affecting approximately 13% of pregnancies worldwide, and gestational diabetes mellitus (GDM), present in about 14%, are both associated with adverse maternal and perinatal outcomes. This study aims to address a lack of current knowledge about how GDM affects asthma during pregnancy.

Objective: To determine whether GDM is associated with an increased risk of asthma exacerbations during pregnancy and the first year postpartum.

Diuretic management protocol to improve quality and safety in managing acute heart failure in an integrated health system: An implementation science approach.

Background: Effective and timely decongestion in acute heart failure (AHF) coupled with careful discharge planning is critical in the successful treatment of patients hospitalized for AHF. We leveraged an implementation science framework to develop a health system-wide diuretic management protocol (DMP) based on emerging clinical evidence.

Methods: We conducted stakeholder interviews using the Integrated Promoting Action on Research Implementation in Health Services (iPARiHS) Framework.

Management of pleural effusion in mechanically ventilated critically ill patients: A systematic review and guideline.

Background: Mechanically ventilated critically ill patients often develop pleural effusions, which may impact lung compliance and expansion. This systematic review explores the management of pleural effusion in the critically ill population.

Methods: A comprehensive literature search was performed.

Perioperative complications and cervical malalignment requiring revision following cervical C3 laminectomy and C4-6 laminoplasty.

Background: Degenerative cervical myelopathy is one of the most common causes of spinal cord dysfunction. Cervical laminoplasty is an excellent surgical procedure that address the underlying pathology along with motion preservation with various advantages over other surgical options. While the advantages are intuitive and are being proven in multiple recent studies, concerns regarding failure still remains precluding wider utilization despite evidence to the contrary.

Stress by Design: A Scoping Review of Structural Stress of Emergency Telecommunicators.

Background: Most agree that occupational stress is caused by workplace strains, tensions, and demands that originate from characteristics of the work. The accumulation of multiple types of stress has been found to have calamitous effects on health and well-being. One such occupation, emergency telecommunicators, experiences a multitude of stressors within their day-to-day work environment.

A New Perspective on Drugs for Duchenne Muscular Dystrophy: Proposals for Better Respiratory Outcomes and Improved Regulatory Pathways.

New drugs for Duchenne muscular dystrophy (DMD) are emerging rapidly. However, we and others believe these drugs are achieving regulatory approval prematurely. It is the cardiorespiratory complications of DMD that cause the disease's major morbidities and that determine survival.

Global disparities in drug-related adverse events of patients with multiple myeloma: a pharmacovigilance study.

Multiple myeloma (MM) is a complex hematological malignancy of clonal plasma cells driven by alterations to the chromosomal material leading to uncontrolled proliferation in the bone marrow. Ethnic and racial disparities persist in the prevalence, diagnosis, management, and outcomes of MM. These disparities are multifaceted and intersect with various factors, including demographics, geography, socioeconomic status, genetics, and access to healthcare.

Intraoperative Molecular Imaging With Pafolacianine: Histologic Characteristics of Identified Nodules.

Background: With increased early detection efforts, surgery for early-stage lung cancer is expected to rise. Pafolacianine is the first FDA approved targeted optical imaging agent indicated as an adjunct for intraoperative identification of malignant and nonmalignant pulmonary lesions in adult patients with known or suspected cancer in the lung.

Methods: This is a retrospective review of the malignant and nonmalignant lesions identified by pafolacianine with intraoperative molecular imaging (IMI) in the multi-center Phase 2 and Phase 3 ELUCIDATE clinical trials.

The physicochemical properties of lipopolysaccharide chemotypes regulate activation of the contact pathway of blood coagulation.

Lipopolysaccharide (LPS) is the primary pathogenic factor in Gram-negative sepsis. While the presence of LPS in the bloodstream during infection is associated with disseminated intravascular coagulation, the mechanistic link between LPS and blood coagulation activation remains ill-defined. The contact pathway of coagulation-a series of biochemical reactions that initiates blood clotting when plasma factors XII (FXII) and XI (FXI), prekallikrein (PK) and high molecular weight kininogen (HK) interact with anionic surfaces-has been shown to be activated in Gram-negative septic patients.

WD repeat domain 5 (WDR5) inhibitors: a patent review (2016-present).

Introduction: WDR5 is an epigenetic scaffolding protein that has attracted significant interest as an anti-cancer drug target, especially in MLL-rearranged leukemias. The most druggable 'WIN-site' on WDR5, which tethers WDR5 to chromatin, has been successfully targeted with multiple classes of exquisitely potent small-molecule protein-protein interaction inhibitors. Earlier progress has also been made on the development of WDR5 degraders and inhibitors at the 'WBM-site' on the opposite face of WDR5.