De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.

Congenital hydrocephalus (CH), characterized by cerebral ventriculomegaly (CV), is among the most common and least understood pediatric neurosurgical disorders. We have identified in the largest-assembled CV cohort (>2,697 parent-proband trios) an exome-wide significant enrichment of protein-altering de novo variants (DNVs) in LDB1 (p = 1.11 x 10-15).

Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.

The trafficking dynamics of uromodulin (UMOD), the most abundant protein in human urine, play a critical role in the pathogenesis of kidney disease. Monoallelic mutations in the UMOD gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), an incurable genetic disorder that leads to kidney failure. The disease is caused by the intracellular entrapment of mutant UMOD in kidney epithelial cells, but the precise mechanisms mediating disrupted UMOD trafficking remain elusive.

Considerations Regarding High Oil Density Bioreactor-Scale Fermentations of Yarrowia lipolytica Using CFD Modeling and Experimental Validation.

Hydrophobic feedstocks such as waste cooking oil have recently been considered for microbial biotransformation due to their abundance, low cost, and unique advantage for lipid-derived fermentation products. Most fermentations with hydrophobic substrates are conducted at the tube or flask scale (less than 1 L total volume) or with the hydrophobic substrate comprising a small fraction of the media. Low substrate concentrations require additional feeding.

Comparison of methotrexate and methylprednisolone as addition to antifibrotic therapy in progressive pulmonary fibrosis due to COVID-19.

Background: Post-covid pulmonary fibrosis (PCPF) is an essential cause of hypoxic respiratory failure, especially in patients with severe COVID-19 infection. In our study, we aimed to compare the effectiveness of methylprednisolone and methotrexate treatments in patients diagnosed with PCPF and in whom progression was observed despite nintedanib treatment.  Methods: Forty-eight patients diagnosed with PCPF between April 2022 and February 2023 were followed up in our study.

Understanding Variation in Bra Cup Sizing Among Leading Manufacturers: A Current Guide for Patients and Surgeons.

Background: Brassiere (bra) size is commonly used when patients and plastic surgeons discuss breast procedures. Variations in sizing between manufacturers can affect patient-surgeon communication and postoperative satisfaction. This study quantifies bra cup volume across alphanumeric sizes and manufacturers to describe variance and improve preoperative communication for shared decision-making.

Healthy at Home for COPD: An Integrated Digital Monitoring, Treatment, and Pulmonary Rehabilitation Intervention.

Background: Chronic Obstructive Pulmonary Disease (COPD) is a leading cause of morbidity and mortality in the United States. Frequent exacerbations result in higher use of emergency services and hospitalizations, leading to poor patient outcomes and high costs.

Objective: Demonstrate the feasibility of a multimodal, digitally enhanced remote monitoring, treatment, and tele-pulmonary rehabilitation intervention among patients with COPD.

Multiomics approaches disclose very-early molecular and cellular switches during insect-venom allergen-specific immunotherapy: an observational study.

Allergen-specific immunotherapy (AIT) induces immune tolerance, showing the highest success rate (>95%) for insect venom while a much lower chance for pollen allergy. However, the molecular switches leading to successful durable tolerance restoration remain elusive. The primary outcome of this observational study is the comprehensive immunological cellular characterization during the AIT initiation phase, whereas the secondary outcomes are the serological and Th2-cell-type-specific transcriptomic analyses.

Private versus funded infertility care: not a challenge but a call for cooperation.

Private medical care has significantly contributed to the advancement of various medical fields. The birth of private IVF groups in the 1990s led to improvements in stimulation protocols, embryo culture, intracytoplasmic sperm injection, vitrification and preimplantation genetic testing. However, infertility is often misunderstood as a disease, leading to low birth rates and a lack of awareness among the general population.

Adiponectin Signaling Regulates Urinary Bladder Function by Blunting Smooth Muscle Purinergic Contractility.

Unlabelled: Lower urinary tract symptoms (LUTS) affect ∼ 50% of the population aged >40 years and are strongly associated with obesity and metabolic syndrome. Adipose tissue plays a key role in obesity/metabolic syndrome by releasing adipokines that regulate systemic energy/lipid metabolism, insulin resistance, and inflammation. Adiponectin (ADPN), the most abundant adipokine, modulates energy/metabolism homeostasis through its insulin-sensitizing and anti-inflammatory effects.

INF2 mutations cause kidney disease through a gain-of-function mechanism.

Heterozygosity for inverted formin-2 (INF2) mutations causes focal segmental glomerulosclerosis (FSGS) with or without Charcot-Marie-Tooth disease. A key question is whether the disease is caused by gain-of-function effects on INF2 or loss of function (haploinsufficiency). Despite established roles in multiple cellular processes, neither INF2 knockout mice nor mice with a disease-associated point mutation display an evident kidney or neurologic phenotype.

Development of a Facility-Level Second Victim Syndrome Peer-Mentor Program: Program Design and Future Directions.

Background: Despite efforts to prevent errors, studies show that iatrogenic, or health care-related, errors continue to occur. Understandably, these errors, which can range in severity from near-misses to serious harm, can be devastating for the health care professionals involved, creating a potential second set of victims, in addition to the patient(s) that were harmed directly. Studies show that individuals struggling with second-victim syndrome (SVS) can be at increased risk for depression, burnout, and poor work performance.

High temperature pyrolysis of sewage sludge: Synergistic effects of co-pyrolysis with rice straw and composite plastics wastes.

The synergistic effect of co-pyrolysis for the mixtures of sewage sludge (SS), rice straw (RS) and composite plastic wastes (PE&PP) has been investigated with the aim of high gas yields and hydrogen generation. In this context, the applicability of high temperature pyrolysis technology was evaluated at both rotary type batch reactor and rotating screw type continuous reactor operating under the industrially relevant conditions. Gas yields have been improved at increasing the operating temperatures up to 850 °C.

Inspiring and Supporting Nurses' Scholarly Works Through a Special Issue Highlighting Nursing-Sensitive Indicators.

Description Nursing represents the largest discipline in health care, with just over 5 million nurses in the United States, and the discipline is under increasing pressure to make evidence-based decisions in the delivery of patient care. This special issue of the can inspire and support nurses' scholarly work with an eye to dissemination in peer-reviewed medical journals. This issue highlights nursing's contributions to improving patient outcomes through nurse-sensitive indicators, with the hope of elevating the quality of tomorrow's health care.

Nursing Informatics: The Vital Nursing Link Between Technology And Patient Care.

Description Advances in technology offer additional health care tools to improve the health of patients and efficiencies for our clinicians in innovative ways. These technologies cover a huge variety of therapeutics, ranging from wearable devices, such as insulin pumps, to robotic-assisted surgeries. Nursing informatics is firmly embedded in the use of technology to improve nursing care and science.

FACE-Q Satisfaction Ratings Are Higher After Facial Feminization Surgery Than Hormone Replacement Therapy Alone.

Purpose: Facial feminization surgery (FFS) is associated with improved psychological outcomes in transgender patients. We aimed to evaluate the impact of FFS on patient satisfaction with facial appearance using validated, patient-reported outcome tools.

Methods: Patients were recruited to complete a FACE-Q survey at least 6 months after their FFS.

Effect of standardized patient simulation with BCG vaccination on nursing students' skills, knowledge and satisfaction, and self-confidence: A randomized controlled study.

Aim: To examine the effect of standardised patient simulation training on nursing students' skills and knowledge in administering the Bacillus Calmette-Guérin vaccine, as well as their satisfaction and self-confidence.

Background: The Bacillus Calmette-Guérin vaccine is administered by nurses to prevent tuberculosis. However, there have been reports of complications arising from inadequate knowledge and skills related to Bacillus Calmette-Guérin vaccine administration.

Effect of different patient positions on endotracheal tube cuff pressure in patients undergoing urological procedures: a prospective study.

Background: The endotracheal tube (ETT) contains a cuff that is placed in the trachea to prevent gas leakage and aspiration of secretions and gastric contents. However, patient positioning after intubation may cause ETT displacement and changes in cuff pressure.

Objectives: Evaluate the effect of different patient positions on ETT cuff pressure in patients undergoing urological procedures in supine, prone, lateral flank, and lithotomy positions.

Molecular basis of TMED9 oligomerization and entrapment of misfolded protein cargo in the early secretory pathway.

Intracellular accumulation of misfolded proteins causes serious human proteinopathies. The transmembrane emp24 domain 9 (TMED9) cargo receptor promotes a general mechanism of cytotoxicity by entrapping misfolded protein cargos in the early secretory pathway. However, the molecular basis for this TMED9-mediated cargo retention remains elusive.