A clinical challenge: delayed diagnosis of autoimmune polyglandular syndrome type II in a patient with thyroid eye disease.

A 35-year-old woman with thyroid eye disease (TED) was found to have autoimmune polyglandular syndrome type II (APS-II) 1 year after developing symptoms of this rare syndrome, during which she underwent 8 emergency department visits before receiving a targeted endocrinology workup. Thyroid disease is the second most common autoimmune syndrome associated with APS-II after primary adrenal insufficiency. Identification of this syndrome is critical as it can be life-threatening if left untreated.

Infective Endocarditis by Biofilm-Producing Methicillin-Resistant -Pathogenesis, Diagnosis, and Management.

Infective endocarditis (IE) is a life-threatening condition with increasing global incidence, primarily caused by , especially methicillin-resistant strains (MRSA). Biofilm formation by is a critical factor in pathogenesis, contributing to antimicrobial resistance and complicating the treatment of infections involving prosthetic valves and cardiovascular devices. Biofilms provide a protective matrix for MRSA, shielding it from antibiotics and host immune defenses, leading to persistent infections and increased complications, particularly in cases involving prosthetic materials.

Sequential Endoluminal Doxorubicin and Gemcitabine Alternating Weekly with Sequential Mitomycin and Docetaxel for Recurrent Non-Muscle Invasive Urothelial Carcinoma.

After first-line treatment failure, patients with non-muscle invasive urothelial carcinoma (NMIUC) are recommended to undergo radical cystectomy. However, those unable to pursue radical surgery or desiring bladder preservation require effective salvage therapies. Multi-agent treatment regimens are particularly useful for targeting the complex resistance mechanisms of recurrent UC.

The utility of renal sonographic measurements in differentiating children with grades 2, 3, and 4 hydronephrosis.

Introduction: Prior analysis of children with grade 3 and 4 congenital hydronephrosis demonstrated that renal medullary pyramidal thickness (PT) is predictive of subsequent pyeloplasty (area under the curve [AUC] = 0.78). The objective of this study was to further analyze the utility of sonographic measurements including PT, anteroposterior pelvic diameter (APD), and renal length with an expansion of the number of infants with hydronephrotic kidneys including grades 2, 3, and 4 hydronephrosis.

Long-term, cell type-specific effects of prenatal stress on dorsal striatum and relevant behaviors in mice.

Maternal stress during pregnancy, or prenatal stress, is a risk factor for neurodevelopmental disorders in offspring, including autism spectrum disorder (ASD). In ASD, dorsal striatum displays abnormalities correlating with symptom severity, but there is a gap in knowledge about dorsal striatal cellular and molecular mechanisms that may contribute. Using a mouse model, we investigated how prenatal stress impacted striatal-dependent behavior in adult offspring.

Primary Intracranial Sarcoma, DICER1-Mutant, With Prominent Chondroid Differentiation: Case Report and Summary of Reported Patients in Literature.

Primary intracranial sarcoma, -mutant, included as a new diagnostic entity in the 2021 WHO Classification of Central Nervous System Tumors, is a rare, but aggressive neoplasm generally identified in the supratentorial forebrain. The prognostic implications of these uncommon tumors and optimal treatment strategy remain unclear. A 19-year-old woman was found unresponsive after reporting a severe headache.

Novel Variants of IGF2 Gene Are Linked With Neural Tube Defects-An In Silico to Clinical Approach in West Bengal, India.

Background: Neural tube defects (NTDs) are defined as an incomplete closure of the neural tube (NT), with a prevalence of 1.2 per 1000 live births around the world. Methylation of the maternally imprinted gene Insulin-like growth factor 2 (IGF2) is one of the epigenetic mechanisms that contribute significantly to the development of NTDs.

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.

Peripheral Myelin Protein 22 (PMP22) and MPZ are abundant myelin membrane proteins in Schwann cells. The MPZ adhesion protein holds myelin wraps together across the intraperiod line. PMP22 is a tetraspan protein belonging to the Claudin superfamily.

Differences in motivation for biology learning: A measurement invariance testing and latent mean comparison approach.

Educational and psychological research often involves comparing motivation across groups. It is critical to ensure that observed differences in motivation are true variations by group, not due to measurement biases. With a diverse sample of undergraduate students (N = 2200), this study measured internal consistency and gathered validity evidence based on the internal structure of five motivation scales.

Consensus review and considerations on TMS to treat depression: A comprehensive update endorsed by the National Network of Depression Centers, the Clinical TMS Society, and the International Federation of Clinical Neurophysiology.

This article updates the prior 2018 consensus statement by the National Network of Depression Centers (NNDC) on the use of transcranial magnetic stimulation (TMS) in the treatment of depression, incorporating recent research and clinical developments. Publications on TMS and depression between September 2016 and April 2024 were identified using methods informed by PRISMA guidelines. The NNDC Neuromodulation Work Group met monthly between October 2022 and April 2024 to define important clinical topics and review pertinent literature.

Drusen Regression after Macula-involving Rhegmatogenous Retinal Detachment Repair.

Purpose: To investigate the effect of macula-involving rhegmatogenous retinal detachment (RRD) repair on drusen regression.

Methods: A retrospective review was performed of patients with drusen who underwent macula-involving RRD repair. Longitudinal optical coherence tomography scans were reviewed by three graders, and each case was grouped into one of three categories: drusen regression, drusen persistence, or mixed.

Conformational landscape of soluble α-klotho revealed by cryogenic electron microscopy.

α-Klotho (KLA) is a type-1 membranous protein that can associate with fibroblast growth factor receptor (FGFR) to form co-receptor for FGF23. The ectodomain of unassociated KLA is shed as soluble KLA (sKLA) to exert FGFR/FGF23-independent pleiotropic functions. The previously determined X-ray crystal structure of the extracellular region of sKLA in complex with FGF23 and FGFR1c suggests that sKLA functions solely as an on-demand coreceptor for FGF23.

Composite Hyaluronic Acid Gas-Entrapping Materials to Promote Wound Healing.

Tissue repair is often impaired in pathological states, highlighting the need for innovative wound-healing technologies. This study introduces composite hyaluronic acid gas-entrapping materials (GEMs) delivering carbon monoxide (CO) to promote wound healing in pigs. These composite materials facilitate burst release followed by sustained release of CO over 48 h.

Prediction of good neurological outcome after return of circulation following paediatric cardiac arrest: A systematic review and meta-analysis.

Aim: To evaluate the ability of blood-biomarkers, clinical examination, electrophysiology, or neuroimaging, assessed within 14 days from return of circulation to predict good neurological outcome in children following out- or in-hospital cardiac arrest.

Methods: Medline, EMBASE and Cochrane Trials databases were searched (2010-2023). Sensitivity and false positive rates (FPR) for good neurological outcome (defined as either 'no, mild, moderate disability or minimal change from baseline') in paediatric survivors were calculated for each predictor.

Structural and functional dynamics of human cone cGMP-phosphodiesterase important for photopic vision.

Cone cGMP-phosphodiesterase (PDE6) is the key effector enzyme for daylight vision, and its properties are critical for shaping distinct physiology of cone photoreceptors. We determined the structures of human cone PDE6C in various liganded states by single-particle cryo-EM that reveal essential functional dynamics and adaptations of the enzyme. Our analysis exposed the dynamic nature of PDE6C association with its regulatory γ-subunit (Pγ) which allows openings of the catalytic pocket in the absence of phototransduction signaling, thereby controlling photoreceptor noise and sensitivity.

Quality of Cancer Recurrence Data in the National Cancer Database: A Reappraisal of Reporting Readiness.

Background: This study evaluated the quality of cancer recurrence data in the National Cancer Database (NCDB) to determine if missingness and reporting consistency have improved enough to support national research.

Methods: This multi-methods study included NCDB analyses and a cancer registry staff survey. Trends in recurrence data missingness from 2004 to 2021 and multivariable analyses of factors associated with missingness from 2017 to 2021 were evaluated for 4,568,927 patients with non-metastatic cancer.

Macular patterns of neuronal and visual field loss in recovered optic neuritis identified by machine learning.

We used machine learning to investigate the residual visual field (VF) deficits and macula retinal ganglion cell (RGC) thickness loss patterns in recovered optic neuritis (ON). We applied archetypal analysis (AA) to 377 same-day pairings of 10-2 VF and optical coherence tomography (OCT) macula images from 93 ON eyes and 70 normal fellow eyes ≥ 90 days after acute ON. We correlated archetype (AT) weights (total weight = 100%) of VFs and total retinal thickness (TRT), inner retinal thickness (IRT), and macular ganglion cell-inner plexiform layer (GCIPL) thickness.

Frailty is associated with poor outcomes in midlife trauma patients.

Background: The impact of frailty on outcomes in midlife trauma patients (50-64 ​y) remains understudied. We evaluated the impact of frailty on midlife trauma patients' outcomes.

Methods: This is a retrospective cohort study using TQIP 2021 data.

Impact of the clinically approved BTK inhibitors on the conformation of full-length BTK and analysis of the development of BTK resistance mutations in chronic lymphocytic leukemia.

Inhibition of Bruton's tyrosine kinase (BTK) has proven to be highly effective in the treatment of B-cell malignancies such as chronic lymphocytic leukemia (CLL), autoimmune disorders, and multiple sclerosis. Since the approval of the first BTK inhibitor (BTKi), Ibrutinib, several other inhibitors including Acalabrutinib, Zanubrutinib, Tirabrutinib, and Pirtobrutinib have been clinically approved. All are covalent active site inhibitors, with the exception of the reversible active site inhibitor Pirtobrutinib.

Private-Sector Readmissions for Inpatient Surgery in Veterans Health Administration Hospitals.

Importance: The Veterans Health Administration (VHA) reports multiple indicators of hospital surgical performance, including hospital risk-standardized 30-day readmission rates (RSRRs). Currently, most routinely reported measures do not include readmissions that occur outside VHA hospitals. The impact of readmissions outside the VHA on hospital RSRR is not known.

Reduced ATR Signaling Contributes to Endothelial Dysfunction After Preeclampsia.

Background: Women who had preeclampsia (a history of preeclampsia) have a >4-fold risk of developing cardiovascular disease compared with women who had an uncomplicated pregnancy (history of healthy pregnancy). Despite the remission of clinical symptoms after pregnancy, vascular endothelial dysfunction persists postpartum, mediated in part by exaggerated Ang II (angiotensin II)-mediated constriction. However, the role of vasodilatory ATRs (Ang II type 2 receptors) in this dysfunction is unknown.

The Association of Race With Outcomes in Hospitalised Patients With Hepatorenal Syndrome: Nationwide Cohort Study.

Introduction: Racial/ethnic disparities have been previously reported in renal and hepatic disease care; however, acute kidney injury (AKI) in the setting of cirrhosis (hepatorenal syndrome [HRS]-AKI) despite its complexity requiring a multidisciplinary approach, remains understudied.

Methods: To identify unique associations of clinical and sociodemographic factors with mortality and length of stay (LOS) among patients hospitalised with HRS-AKI, hierarchical regression analysis was conducted, along with a mediation analysis to estimate how race-related differences in in-hospital mortality were influenced by payer type, area household income, and clinical severity.

Results: Black patients demonstrated a significantly higher odds of in-hospital mortality, compared to their white counterparts, adjusting for (1) sex and age, (2) sex, age, payer type, and area household income and (3) sex, age, and clinical severity [OR 1.

Immunometabolism in the Aging Heart.

Structural, functional, and molecular-level changes in the aging heart are influenced by a dynamic interplay between immune signaling and cellular metabolism that is referred to as immunometabolism. This review explores the crosstalk between cellular metabolic pathways including glycolysis, oxidative phosphorylation, fatty acid metabolism, and the immune processes that govern cardiac aging. With a rapidly aging population that coincides with increased cardiovascular risk and cancer incidence rates, understanding the immunometabolic underpinnings of cardiac aging provides a foundation for identifying therapeutic targets to mitigate cardiac dysfunction.