Cardiovascular disease in adults with osteogenesis imperfecta: Clinical characteristics, care recommendations and research priorities identified using a modified Delphi technique.

Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI.

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.

Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.

Implementation of a Comprehensive Endovascular Aortic Programme and Maintenance of Clinical Excellence during Fenestrated Branched Endovascular Aortic Repair in Two Centres.

Objective: Comprehensive endovascular aortic programmes need optimal infrastructure and multidisciplinary teams to manage complex aortic aneurysms. This study assessed the implementation of such a programme in two centres and its impact on fenestrated or branched endovascular aortic repair (FB-EVAR) outcomes.

Methods: A retrospective review of patients treated for complex abdominal and thoraco-abdominal aortic aneurysms (TAAAs) by FB-EVAR between 2013 and 2023 was undertaken.

The Impact of Surgical Margin in Wide Local Excision of Pediatric Melanoma - An Argument for a More Conservative Approach.

Background: Pediatric melanoma is the most common skin cancer in children. Achieving surgical margins recommended by the National Comprehensive Cancer Network (NCCN) for wide local excision (WLE) is challenging in children with less body domain. This study investigated whether surgical margin impacted postoperative clinical outcomes following WLE for melanoma in children and adolescents.

Epidemiology of Patient Record Duplication.

Objectives:  Duplicate patient records can increase costs and medical errors. We assessed the association between demographic factors, comorbidities, health care usage, and duplicate electronic health records.

Methods:  We analyzed the association between duplicate patient records and multiple demographic variables (race, Hispanic ethnicity, sex, and age) as well as the Charlson Comorbidity Index (CCI), number of diagnoses, and number of health care encounters.

A Review of Linear Lichen Planus Case Reports.

Lichen linear planus is a rare variant of lichen planus that appears as pruritic, polygonal, purple papules in a blaschkoid distribution. This review critically assesses all reported cases of linear lichen planus (LLP) for proposed etiology, clinical and histologic traits, treatment options, and recurrence. A PubMed search from inception through March 2023, followed by article screening and full-text review, identified 51 unique cases of LLP.

Retrospective operationalization of allostatic load in patients with cancer: A systematic review.

Allostatic load (AL) has been shown to impact cancer outcomes. At present, no gold standard exists surrounding AL computation. As such, a systematic review of the literature was performed to identify studies that retrospectively calculated AL in patients with cancer.

Skin Cancer Precursors: From Cancer Genomics to Early Diagnosis.

Skin cancers, including melanoma and keratinocyte carcinomas, are responsible for increasing health care burden internationally. Risk stratification and early detection are paramount for prevention and less risky treatment to overall improve patient outcomes and disease morbidity. Here, the authors discuss the key concepts leading to skin cancer initiation and progression.

Dysphagia After Anterior Cervical Spine Surgery: Pathophysiology, Diagnosis, and Management.

Anterior cervical spine surgery (ACSS) is a surgical intervention widely used for a myriad of indications including degenerative, oncologic, inflammatory, traumatic, and congenital spinal conditions. A primary concern for surgeons performing ACSS is the postoperative development of oropharyngeal dysphagia. Current literature reports a wide incidence of this complication ranging from 1 to 79%.

Persistent poverty and incidence-based melanoma mortality in Texas.

Purpose: Previous studies have shown that individuals living in areas with persistent poverty (PP) experience worse cancer outcomes compared to those living in areas with transient or no persistent poverty (nPP). The association between PP and melanoma outcomes remains unexplored. We hypothesized that melanoma patients living in PP counties (defined as counties with ≥ 20% of residents living at or below the federal poverty level for the past two decennial censuses) would exhibit higher rates of incidence-based melanoma mortality (IMM).

A collaboration between adult protective services and forensic accounting examiners to investigate complex financial exploitation: formative evaluation findings.

Financial exploitation (FE) is one of the most common reports to Adult Protective Services (APS) and the cases are often complex. Consequently, APS caseworkers report FE investigations to be among the most difficult while simultaneously reporting low confidence in productive outcomes for these investigations. This necessitates finding ways to support APS FE investigations.

Gonorrheal and chlamydia yield for genital and extragenital testing in children evaluated for sexual abuse.

Objective: Texas Forensic Nurse Examiners (TXFNE) performs routine testing of genital and non-genital sites for Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG), and further testing for other sexually transmitted pathogens. The current Centers for Disease Control and Prevention (CDC) guidelines recommend that testing be based primarily on patient history of type of sexual contact, patient age, community prevalence of sexually transmitted infections (STIs), perpetrator risk factors for STIs, and patient symptoms (Centers for Disease Control and Prevention, 2021). In this study, we were interested in determining whether our practice of testing all sites in all prepubertal patients presenting for sexual abuse for CT and NG resulted in identification of infections that would have been missed if testing had been limited to disclosed sites of sexual contact.

Ambulation for latency during expectant management of preterm prelabor rupture of membranes: a randomized controlled trial (AMBLE).

Background: Individuals hospitalized with preterm prelabor rupture of membranes are often advised to limit their activity or adhere to bed rest. Some evidence suggests that greater activity is associated with longer latency and improved outcomes, but no high-quality evidence from a randomized controlled trial exists.

Objective: This study aimed to evaluate whether encouragement to ambulate at least 2000 steps daily affects latency among individuals with preterm prelabor rupture of membranes compared with usual care.

Successful Treatment of SCD-Related Priapism With Crizanlizumab: A Case Series.

Priapism, an unwanted, painful, prolonged erection that is unrelated to sexual stimulation, is a common complication of sickle cell disease (SCD). Priapic events in SCD are stuttering, meaning they occur repeatedly with intervening periods of detumescence. Without health care intervention, repeated episodes can lead to erectile dysfunction.

Medication Reconciliation during Transitions of Care Across Institutions: A Quantitative Analysis of Challenges and Opportunities.

Objective: Medication discrepancies between clinical systems may pose a patient safety hazard. In this paper, we identify challenges and quantify medication discrepancies across transitions of care.

Methods: We used structured clinical data and free-text hospital discharge summaries to compare active medications' lists at four time points: preadmission (outpatient), at-admission (inpatient), at-discharge (inpatient), and postdischarge (outpatient).

Gut Microbiome in Patients With Early-Stage and Late-Stage Melanoma.

Importance: The gut microbiome modulates the immune system and responses to immunotherapy in patients with late-stage melanoma. It is unknown whether fecal microbiota profiles differ between healthy individuals and patients with melanoma or if microbiota profiles differ among patients with different stages of melanoma. Defining gut microbiota profiles in individuals without melanoma and those with early-stage and late-stage melanoma may reveal features associated with disease progression.