Adenosine diphosphate stimulates VEGF-independent choroidal endothelial cell proliferation: A potential escape from anti-VEGF therapy.

We hypothesized that a strategy employing tissue-specific endothelial cells (EC) might facilitate the identification of tissue- or organ-specific vascular functions of ubiquitous metabolites. An unbiased approach was employed to identify water-soluble small molecules with mitogenic activity on choroidal EC. We identified adenosine diphosphate (ADP) as a candidate, following biochemical purification from mouse EL4 lymphoma extracts.

Application of artificial intelligence in laryngeal lesions: a systematic review and meta-analysis.

Objective: The objective of this systematic review and meta-analysis was to evaluate the diagnostic accuracy of AI-assisted technologies, including endoscopy, voice analysis, and histopathology, for detecting and classifying laryngeal lesions.

Methods: A systematic search was conducted in PubMed, Embase, etc. for studies utilizing voice analysis, histopathology for laryngeal lesions, or AI-assisted endoscopy.

Effects of Chemodenervation on Ocular Synkinesis.

Chemodenervation is widely used for management of synkinesis in patients with facial palsy, but there is limited objective data assessing treatment effect. To measure the eyelid palpebral fissure height at rest and during movement after chemodenervation of the orbicularis oculi muscle among patients with ocular synkinesis, as measured on photographs with computerized facial analysis application. A retrospective review of patients who underwent initial chemodenervation to the orbicularis oculi for synkinesis was conducted from January 1, 2015, and July 26, 2023.

Maxillomandibular Advancement for Obstructive Sleep Apnea in Patients With Obesity: A Meta-Analysis.

Objective: To systematically review polysomnographic and cephalometric data in obstructive sleep apnea (OSA) patients with obesity (body mass index [BMI] ≥30 kg/m) treated with maxillomandibular advancement (MMA).

Data Sources: Scopus, PubMed, CINAHL, and The COCHRANE Library.

Review Methods: A search was performed from inception until April 3, 2024, in each database.

Impaired Semen Quality in Patients with Chronic Prostatitis.

Chronic prostatitis/chronic pelvic pain syndrome CP/CPPS is a rather common condition and in recent years many studies have shown contradictory results regarding its impact on semen quality. This prospective cohort study set out to investigate how CP/CPPS affected the parameters of semen in a prospective cohort of patients compared with the WHO 2021 reference group. From 2013 to 2022, a total of 1071 patients with suspicion of CP/CPPS received a comprehensive andrological examination.

Proteomic biomarkers in seminal plasma as predictors of reproductive potential in azoospermic men.

Introduction: Azoospermia, characterized by an absence of sperm in the ejaculate, represents the most severe form of male infertility. While surgical sperm retrieval in obstructive azoospermia (OA) is successful in the majority of cases, patients with non-obstructive azoospermia (NOA) show retrieval rates of only about 50% and thus frequently have unnecessary surgery. Surgical intervention could be avoided if patients without preserved spermatogenesis are identified preoperatively.

[Priapism].

Priapism is defined as penile erection lasting more than four hours that is unrelated to sexual arousal. Priapism is classified based on the oxygenation of the penile tissue into ischemic and non-ischemic subtypes. As the most common form, ischemic priapism is usually associated with pain and carries a significant risk of permanent loss of erectile function; thus, rapid intervention is necessary.

Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.

Short stature or shortening of the limbs can be the result of a variety of genetic variants. Achondroplasia is the most common cause of disproportionate short stature and is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene (FGFR3). Short stature homeobox (SHOX) deficiency is caused by loss or defects of the SHOX gene or its enhancer region.

A Wearable Device Towards Automatic Detection and Treatment of Opioid Overdose.

Opioid-induced overdose is one of the leading causes of death among the US population under the age of 50. In 2021 alone, the death toll among opioid users rose to a devastating number of over 80,000. The overdose process can be reversed by the administration of naloxone, an opioid antagonist that rapidly counteracts the effects of opioid-induced respiratory depression.

Methimazole, an Effective Neutralizing Agent of the Sulfur Mustard Derivative 2-Chloroethyl Ethyl Sulfide.

Sulfur mustard (SM), designated by the military as HD, is a highly toxic and dangerous vesicant that has been utilized as a chemical warfare agent since World War I. Despite SM's extensive history, an effective antidote does not exist. The effects of SM are predominantly based on its ability to alkylate important biomolecules.

Sertoli cell-enriched proteins in mouse and human testicular interstitial fluid.

Sertoli cells support the development of sperm and the function of various somatic cells in the interstitium between the tubules. Sertoli cells regulate the function of the testicular vasculature and the development and function of the Leydig cells that produce testosterone for fertility and virility. However, the Sertoli cell-derived factors that regulate these cells are largely unknown.

Comprehensive evaluation of hematospermia in patients with acute epididymitis compared to patients with isolated hematospermia.

Background: Among the most commonly known causes of hematospermia are infections in the genitourinary tract, but no study exists that has comprehensively investigated hematospermia in patients with acute epididymitis.

Objectives: To assess the impact of hematospermia in patients with acute epididymitis and its association with clinical, microbiological, and semen parameters.

Materials And Methods: Since May 2007, a total of 324 sexually active patients with acute epididymitis were recruited in a prospective cohort study.

[Testosterone treatment].

Male hypogonadism is a congenital or acquired disorder that exerts a negative influence on various organ functions and can massively impair the quality of life through the relative or absolute deficiency of testosterone. A variety of preparations are available for substitution treatment, which differ in administration form and intake interval. For the execution of testosterone treatment various guidelines exist with clear and practical instructions on the indications, contraindications, treatment procedure and monitoring.

Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome.

Background: Guidelines from the European Hereditary Tumor Group as well as The Danish National Guidelines for Peutz-Jeghers Syndrome (PJS) state that both prenatal diagnosis and preimplantation genetic testing for monogenic disorders (PGT-M) should be offered to patients with PJS. However, only a few cases resulting in viable pregnancies have been published.

Objective: We present two cases of PJS patients going through PGT-M for PJS.

Consensus and Diversity in the Management of Varicocele for Male Infertility: Results of a Global Practice Survey and Comparison with Guidelines and Recommendations.

Purpose: Varicocele is a common problem among infertile men. Varicocele repair (VR) is frequently performed to improve semen parameters and the chances of pregnancy. However, there is a lack of consensus about the diagnosis, indications for VR and its outcomes.

Patients' choices and opinions on chorionic villous sampling and non-invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross-sectional questionnaire study.

Objective: The aim of this study was to investigate choices of and reasoning behind chorionic villous sampling and opinions on non-invasive prenatal testing among women and men achieving pregnancy following preimplantation genetic testing (PGT) for hereditary disorders.

Methods: A questionnaire was electronically submitted to patients who had achieved a clinical pregnancy following PGT at the Center for Preimplantation Genetic Testing, Aalborg University Hospital, Denmark, between 2017 and 2020.

Results: Chorionic villous sampling was declined by approximately half of the patients.

[Preimplantation genetic testing].

Preimplantation genetic testing (PGT) for known familial monogenetic disease (PGT-M) or structural chromosomal rearrangements (PGT-SR) has evolved into a well-established alternative to prenatal diagnosis. PGT significantly reduces the risk of a pregnancy with an affected foetus. Screening for aneuploidy (PGT-A) used as an add-on to standard IVF treatment of infertile couples is widely used internationally, although its benefit is highly debated.

LIF, a mitogen for choroidal endothelial cells, protects the choriocapillaris: implications for prevention of geographic atrophy.

In the course of our studies aiming to discover vascular bed-specific endothelial cell (EC) mitogens, we identified leukemia inhibitory factor (LIF) as a mitogen for bovine choroidal EC (BCE), although LIF has been mainly characterized as an EC growth inhibitor and an anti-angiogenic molecule. LIF stimulated growth of BCE while it inhibited, as previously reported, bovine aortic EC (BAE) growth. The JAK-STAT3 pathway mediated LIF actions in both BCE and BAE cells, but a caspase-independent proapoptotic signal mediated by cathepsins was triggered in BAE but not in BCE.

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with neurodevelopmental disorders and generalized epilepsy. One variant occurred in two sibs of healthy parents with presumed somatic mosaicism, another segregated with the disease in three affected family members, and the remaining five occurred de novo in sporadic patients.

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here report five additional unrelated patients with TARS2-related mitochondrial diseases, expanding the clinical phenotype to also include epilepsy, dystonia, hyperhidrosis and severe hearing impairment.

Sperm proteins and cancer-testis antigens are released by the seminiferous tubules in mice and men.

Sperm develop from puberty in the seminiferous tubules, inside the blood-testis barrier to prevent their recognition as "non-self" by the immune system, and it is widely assumed that human sperm-specific proteins cannot access the circulatory or immune systems. Sperm-specific proteins aberrantly expressed in cancer, known as cancer-testis antigens (CTAs), are often pursued as cancer biomarkers and therapeutic targets based on the assumption they are neoantigens absent from the circulation in healthy men. Here, we identify a wide range of germ cell-derived and sperm-specific proteins, including multiple CTAs, that are selectively deposited by the Sertoli cells of the adult mouse and human seminiferous tubules into testicular interstitial fluid (TIF) that is "outside" the blood-testis barrier.