Germline predisposition in multiple myeloma.

We present a study of rare germline predisposition variants in 954 unrelated individuals with multiple myeloma (MM) and 82 MM families. Using a candidate gene approach, we identified such variants across all age groups in 9.1% of sporadic and 18% of familial cases.

Biodistribution of Polymeric Nanoparticles following in utero Delivery to a Nonhuman Primate.

Introduction: Monogenic diseases can be diagnosed before birth. Systemic fetal administration of nanoparticles (NPs) grants therapeutic access to developing stem cell populations impacted by these classes of disease. Delivery of editing reagents in these NPs administered before birth has yielded encouraging results in preclinical mouse models of monogenic diseases.

Burnout in the female surgical trainee; is it time to consider a more global approach to tackle this issue?

Workplace related burnout is rampant in medicine. Prevalence is even higher in surgical specialties, higher during various stages of training, and higher still in females in these specialties. There has been a concerted effort by various deliberative bodies to institute policies to combat this.

Exploring the association between emergency hospital services and homicide incidents in Pennsylvania.

Homicide is a significant measure of quality of life and serves as a reference point for a comparison between neighborhoods. Despite its unique relevance to homicide, the role of medical resources, specifically emergency hospital services, has been underexplored in the literature. This study addresses this gap by examining the relationship between emergency hospital availability and homicide rates across counties in Pennsylvania, using advanced spatiotemporal modeling techniques.

Children betrayed: The unseen victims of domestic violence and how law enforcement can better protect them.

Domestic violence is a commonplace and serious societal problem with vast public health and economic consequences. Childhood exposure to domestic violence can blight children's biological and social development. Often, local police departments are first responders to domestic violence.

A meta-analysis of the American college of surgeons risk calculator's predictive accuracy among different surgical sub-specialties.

Background: The American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) provides risk estimates of postoperative complications. While several studies have examined the accuracy of the ACS-Surgical Risk Calculator (SRC) within a single specialty, the respective conclusions are limited by sample size. We sought to conduct a meta-analysis to determine the accuracy of the ACS-SRC among various surgical specialties.

Variation in approach for midsize (4-6cm) ventral hernias across a statewide quality improvement collaborative.

Introduction: Repair of midsize (4-6 cm) ventral hernias is challenging given lack of guidelines. Within this context, we sought to characterize surgical approach among patients undergoing repair of midsize ventral hernias within the only population-level, clinically-nuanced hernia registry in the US.

Methods: Retrospective cohort study of patients undergoing ventral hernia repair in the Michigan Surgical Quality Collaborative Core Optimization Hernia Registry (MSQC-COHR).

Donor hepatitis C status is not associated with an increased risk of acute rejection in kidney transplantation.

Introduction: In renal transplantation, donor hepatitis C virus (HCV) status is crucial to consider when selecting a recipient given the high likelihood of transmission. We analyzed the effect of donor HCV status on post-renal transplant rejection and virologic infectious outcomes using electronic health record data from multiple US health care organizations.

Methods: Using real world data from electronic health records of renal transplant recipients, a propensity score-matched case-control study of one-year renal transplant outcomes was conducted on cohorts of HCV-negative recipients who received an organ from an HCV-positive donor (HCV D+/R-) versus from an HCV-negative donor (HCV D-/R-).

Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation.

is a gene that codes for a tumour suppressor protein involved in various types of cancer. It was first described in retinoblastoma and is segregated as an autosomal dominant trait with high penetrance. In 1971, Knudson proposed his hypothesis of the two hits, where two mutational events are required to initiate tumour progression.

Exploring Goal Attainment Scaling Among Occupational Therapy Students: A Retrospective Descriptive Analysis.

This study explored the administration of goal attainment scaling (GAS) by entry-level occupational therapy (OT) students, examining their competency following minimal training. While GAS is valuable for measuring progress toward individualized client goals, its implementation requires specific skills and training that may challenge entry-level practitioners. Using retrospective data from a study of sensory garments' effects on children with autism spectrum disorder (ASD), we analyzed GAS administration by five entry-level OT students.

Chronic calcified subdural hematoma masquerading as hemorrhagic extra-axial mass: A case report and brief review of the literature.

Calcified chronic subdural hematoma (CCSDH) is a rare condition characterized by the accumulation of calcified blood between the dura mater and arachnoid membrane, typically following remote trauma. These lesions often present as space-occupying, extra-axial masses over the cerebral convexity and can mimic extra-axial tumors, such as calcified meningiomas. A 73-year-old male with a history of prostate cancer, hypertension, and hyperlipidemia presented with vision changes and mild papilledema.

Primary breast osteosarcoma: A case report highlighting the importance of radiologic-pathologic correlation.

Osteosarcoma of primary breast origin is a rare form of malignancy. Imaging findings are nonspecific and often overlap with other differential considerations reinforcing the importance of radiologic-pathologic correlation for an accurate diagnosis. This case report details the clinical presentation, imaging findings, histopathological features, and therapeutic approach that transpired to diagnose and treat this rare malignancy.

A rare case of extrapelvic endometriosis in the right sciatic notch.

Endometriosis is described as the proliferation of endometrial tissue outside of the uterus. This most frequently occurs within the pelvis and is a common cause of chronic pelvic pain in women of reproductive age. Rarely, endometriosis can manifest outside of the pelvis and can uncommonly involve the musculoskeletal and peripheral nervous systems.

Arabidopsis 3-Deoxy-d--Heptulosonate 7-Phosphate (DAHP) Synthases of the Shikimate Pathway Display Both Manganese- and Cobalt-Dependent Activities.

The plant shikimate pathway directs a significant portion of photosynthetically assimilated carbon into the downstream biosynthetic pathways of aromatic amino acids (AAA) and aromatic natural products. 3-Deoxy-d--heptulosonate 7-phosphate (DAHP) synthase (hereafter DHS) catalyzes the first step of the shikimate pathway, playing a critical role in controlling the carbon flux from central carbon metabolism into the AAA biosynthesis. Previous biochemical studies suggested the presence of manganese- and cobalt-dependent DHS enzymes (DHS-Mn and DHS-Co, respectively) in various plant species.

Gene model for the ortholog of in .

Gene model for the ortholog of glycogen synthase ( ) in the May 2017 (Princeton ASM75419v2/DsimGB2) Genome Assembly (GenBank Accession: GCA_000754195.3 ). This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

Urethral Complications Due to Erythema Multiforme Major: A Case Report.

Erythema multiforme major (EMM) is an acute, immune-mediated mucocutaneous disease that rarely affects the genital mucosal surfaces. This study describes a 39-year-old male with this rare disease and unusual presentation. The patient presented to an emergency department with oral lesions, drainage from both eyes, injected sclera, and characteristic targetoid lesions on the face, upper extremities, torso, and plantar surfaces of the feet.

Neurodevelopmental Abnormalities in Down Syndrome: Assessing Structural and Functional Deficits.

Down syndrome (DS) is a genetic intellectual disorder caused by trisomy of chromosome 21 (Hsa21) and presents with a variety of phenotypes. The correlation between the chromosomal abnormality and the resulting symptoms is unclear, partly due to the spectrum of impairments observed. However, it has been determined that trisomy 21 contributes to neurodegeneration and impaired neurodevelopment resulting from decreased neurotransmission, neurogenesis, and synaptic plasticity.

Correlation Between Ki-67 Expression and Tumor Grade in Breast Cancer: A Cross-Sectional Study.

Introduction Ki-67 is a proliferation marker that may correlate with tumor grade in breast cancer. This study explores the association between Ki-67 expression levels and tumor grade in breast cancer patients. Materials and methods This cross-sectional study analyzed Ki-67 expression in tumor samples from 280 breast cancer patients.

The Importance of Preserving the Posterior Ligament Complex in Elective Lumbar Fusion Surgery: Early Results from a Single-Center Experience.

Background:  Adjacent segment disease (ASD) is a degenerative condition at the segment adjacent to a previously fused segment. Potential risk factors for ASD, such as posterior ligamentous complex (PLC) integrity between the upper instrumented vertebra (UIV) and the first unfused segment (UIV+1), have not been addressed. The objective of this study is to assess the PLC integrity between the UIV and UIV+1 following posterior lumbar decompression and fusion (PLDF).

Cardiac Complications From Herbal Remedies.

The safety of traditional Chinese medicine (TCM) herbal remedies, particularly when used with modern medications or in non-traditional dosages, requires careful consideration. We present a case of a 62-year-old male with pre-existing cardiovascular risk factors who developed tachycardia-induced cardiomyopathy (TIC) potentially linked to prolonged use of the TCM supplement "Tan Ke Jing." The supplement contains licorice root, caffeine, and apricot kernel, which have known cardiovascular effects.

Impact of Total Body Surface Area Burn Injuries on Clinical Outcomes and Comorbidities in Elderly Patients Aged Over 65.

Introduction: Burn injuries are associated with high mortality and morbidity, especially in the elderly population. Although burns are preventable, they account for the fourth most common cause of trauma worldwide. The majority of the mortality associated with burn victims is also seen in the elderly age group.

Improvement of Recalcitrant Folliculitis Decalvans With Tirzepatide: A Case Report.

Folliculitis decalvans (FD) is a chronic inflammatory alopecia characterized by painful, scarring lesions and recurrent flares, often complicated by secondary bacterial infections. Despite the use of topical and systemic anti-inflammatory or antimicrobial therapies, FD remains challenging to manage, with limited therapeutic advancements. We report a case of recalcitrant FD in a man in his 40s who experienced significant symptom improvement and hair regrowth following the initiation of tirzepatide for weight management.

A Case Report: The Vicious Cycle of Schizophrenia, Substance Abuse, and Human Trafficking.

Patients with schizophrenia often find themselves in vulnerable situations because their cognitive impairments can make them more susceptible to exploitation and crime. A prevalent misconception is that schizophrenia is synonymous with violence, possibly fueled by selective media coverage that highlights instances of violent crimes involving individuals with schizophrenia. In reality, a large percentage of people with schizophrenia do not display violent behavior.

Pediatric Central Retinal Artery Occlusion in a Patient With Elevated Lipoprotein (A) and Factor VIII Levels.

The purpose of this manuscript is to report a rare case of pediatric central retinal artery occlusion (CRAO) in the setting of atypical hypercoagulable tests. An 11-year-old female presented to the emergency department with painless, visual changes in the left eye. Ophthalmological examination was remarkable for a central area of retinal ischemia and edema with sparing along the distribution of the cilioretinal artery along with a cherry red spot, all of which were consistent with a CRAO.

Surgical management of short-segment Hirschsprung disease.

Hirschsprung disease (HSCR) is the most common congenital motility disorder of the intestine, characterized by the absence of ganglion cells in the myenteric and submucosal plexuses, leading to functional bowel obstruction. Short-segment Hirschsprung disease (SS-HSCR) accounts for the majority of cases, with surgical resection being the cornerstone of treatment. Despite advances in surgical techniques, considerable variability exists in practice regarding the timing of surgery, the choice of technique, and the length of aganglionic rectal cuff to resect.