A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies.

Structural variants (SVs) play a significant role in gene function and are implicated in numerous human diseases. With advances in sequencing technologies, identifying SVs through whole-genome sequencing (WGS) has become a key area of research. However, variability in SV detection persists due to the wide range of available tools and the absence of standardized methodologies.

Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel and Duplication.

North Carolina Macular Dystrophy (NCMD) is a non-progressive inherited macular dystrophy characterized by marked phenotypic variability. The genetic etiology of NCMD remains largely unknown, and only a limited number of families have been reported in Europe. : We performed an in-depth investigation of an Italian family affected by NCMD using an integrated approach that combined SNP-array analysis, whole-exome sequencing, and long-read whole-genome sequencing.

Patient Interaction Phenotypes With an Automated SMS Text Message-Based Program and Use of Acute Health Care Resources After Hospital Discharge: Observational Study.

Background: Automated bidirectional SMS text messaging has emerged as a compelling strategy to facilitate communication between patients and the health system after hospital discharge. Understanding the unique ways in which patients interact with these messaging programs can inform future efforts to tailor their design to individual patient styles and needs.

Objective: Our primary aim was to identify and characterize distinct patient interaction phenotypes with a postdischarge automated SMS text messaging program.

Access to Surgical Care After Newly Acquired Insurance Enrollment.

Objective: To evaluate the association between insurance acquisition through a hospital-based linkage program and the utilization of elective and emergency surgical procedures within one year of hospitalization.

Summary Background Data: Lack of insurance creates substantial barriers to elective surgical procedures, potentially leading to preventable complications and worsened outcomes. Hospital-based insurance linkage programs may help address these challenges by providing retroactive coverage, but their impact on surgical care utilization remains understudied.

Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts.

Introduction: Deepening the genetic mechanisms underlying Normal Hearing Function (NHF) has proven challenging, despite extensive efforts through Genome-Wide Association Studies (GWAS).

Methods: NHF was described as a set of nine quantitative traits (i.e.

Uncovering a Novel Pathogenic Mechanism of in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

The gene encodes a mitochondrial chaperone which inserts the FeS iron-sulfur Rieske protein into the nascent electron transfer complex III. Variants in the gene are associated with a spectrum of mitochondrial disorders, ranging from mild to severe phenotypes. Björnstad syndrome, a milder condition, is characterized by sensorineural hearing loss (SNHL) and pili torti.

The Co-Expression and Cellular Location of HER Family Members, EGFRvIII, Putative Cancer Stem Cell Biomarkers CD44 and CD109 in Patients with Glioblastoma, and Their Impacts on Prognosis.

Background/objectives: The aberrant expression and activation of HER family members is a known major oncogenic pathway for the proliferation, progression, and metastasis of a wide range of human malignancies. In this study, our aim was to examine the relative expression and prognostic significance of all members of the HER family, the type III EGFR mutant (EGFRvIII), and the putative stem cell markers CD44 and CD109 in patients with glioblastoma.

Methods: The expression levels of wild-type EGFR (wtEGFR), HER2, HER3, HER4, EGFRvIII, CD44, and CD109 were determined in tumour specimens from 80 patients by immunohistochemistry.

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Background: The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and nonsyndromic autosomal recessive hearing loss DFNB4 in EVA patients. In Caucasian cohorts, the genetic determinants of EVA remain unknown in approximately 50% of cases.

Family Navigation for Children with Autism: A Scoping Review of Quantitative and Qualitative Evidence.

Family navigation (FN) has emerged as a promising intervention for reducing barriers and addressing social and economic inequities in autism service delivery. Little is known regarding the implementation and effectiveness of FN for children with autism. The aims of this scoping review are to: (1) summarize the breadth, quantity, and characteristics of the existing literature on FN for children diagnosed with autism; (2) describe the models and outcomes of FN for this population; and (3) identify knowledge gaps and provide directions for future research.

Awaiting insurance coverage: Medicaid enrollment and post-acute care use after traumatic injury.

Background: Lack of insurance after traumatic injury is associated with decreased use of postacute care and poor outcomes. Insurance linkage programs enroll eligible patients in Medicaid at the time of an unplanned admission. We hypothesized that Medicaid enrollment would be associated with increased use of postacute care, but also with prolonged hospital length of stay (LOS) while awaiting insurance authorization.

Mistaken for migraine: Coccidioidal meningitis.

The incidence of coccidioidomycosis has been rising in the past decade. This case report focuses on a man with a history of persistent migraine who presented to the ED with altered mental status. After cerebrospinal fluid testing, the patient was diagnosed with coccidioidal meningitis and treated with lifelong antifungal therapy.

In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

Alteration in the ubiquitin-proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz-Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder, craniofacial dysmorphisms, with or without other congenital anomalies, and autoinflammation. We described six patients (four adults) from two unrelated families carrying a known p.

Implementing a Virtual Discharge Nurse Pilot: Utilizing the Pathway to Excellence® Framework.

Objective: The virtual nurse (VN) pilot was developed to assist bedside nurses in administrative tasks, including discharges and education, from a remote location.

Background: Bedside nurse vacancies have increased, leading to a shortage of resources for the care team and less time for nurses to provide hands-on care to patients.

Methods: A survey showed 77% of nurses spend more than 3 hours per shift on admissions, discharges, and patient education.

Soliciting Diaries for "Real-Time" Insights Into the COVID-19 Pandemic: Methodological Reflections on Using Digital Technologies to Engage the Public.

Objectives: To discuss the opportunities and challenges of the qualitative solicited diary approach using digital technologies as an innovative way to access insights into people's lives and their unique stories in times of COVID-19-related social distancing in Switzerland.

Methods: This case study provides reflective arguments from a social science perspective for the selection of different (digital) diary designs to optimize data collection in the SNSF-funded project "PubliCo - an experimental online platform for COVID-19-related public perception."

Results: The findings highlight some opportunities of using (digital) diaries, such as empowering participants, gathering real-time data, and ethical and methodological challenges when it comes to gaining access to alternative narratives.

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.

Chromoanagenesis events consist of complex chromosome rearrangements with multiple breakpoints in one or few chromosomes. Mechanisms of chromoanagenesis are split into three major groups: chromothripsis, chromoanasynthesis and chromoplexy. This study aims to delineate a chromoanagenesis event at the level of chromosome 22 in an individual showing obesity and borderline cognitive performance as major disturbances.

Emergency Medicaid enrollment after traumatic injury predicts long-term health care utilization.

Background: Injured patients have high rates of uninsurance, which is associated with worse outcomes. Insurance linkage programs that connect patients to Medicaid coverage can prevent catastrophic costs for patients. Less is known about the long-term impact of insurance enrollment.

Postdischarge needs identified by an automated text messaging program: A mixed-methods study.

Background: Text messaging has emerged as a popular strategy to engage patients after hospital discharge. Little is known about how patients use these programs and what types of needs are addressed through this approach.

Objective: The goal of this study was to describe the types and timing of postdischarge needs identified during a 30-day automated texting program.

Patient-Portal Compared with Supplemental In-Office Tablet Screening for Health-Related Social Needs in Primary Care.

Background: Screening for health-related social needs (HRSN) has become more widespread but the best method of delivering the screening tool is not yet known.

Objective: Describe HRSN screening completion rate, specifically portal-based and in-person tablet-based screening.

Design: Cross-sectional retrospective observational study.

Synergistic Effects of Neratinib in Combination With Palbociclib or Miransertib in Brain Cancer Cells.

Background: Aberrant expression and activation of epidermal growth factor receptor (EGFR) resulted in approval of several forms of EGFR inhibitors in the treatment of patients with a wide range of epithelial cancers. However, no EGFR inhibitor has yet been approved for the treatment of patients with brain cancer, indicating that targeting EGFR alone may not be sufficient in some patients.

Methods: In this study, we investigated the role of all members of the EGFR family, other growth factor receptors, cell-cycle proteins, and downstream cell signaling pathways (e.

Cash Transfers and After-School Programs: A Randomized Controlled Trial for Young Men at Risk of Violence Exposure in Wilmington, Delaware.

We conducted a randomized controlled trial to determine whether an after-school program paired with a cash transfer (a conditional cash transfer) or a cash transfer alone (an unconditional cash transfer) can help improve health and economic outcomes for young men between the ages of 14 and 17 whose parents have low incomes and who live in neighborhoods with high crime rates. We find that receiving the cash transfer alone was associated with an increase in healthy behaviors (one of our primary outcome composite measures) and that the cash transfer paired with after-school programming was associated with an improvement in the financial health of participants (one of our secondary outcome composite measures). We find no differences in spending on alcohol, marijuana, cigarettes, or other drugs between either the treatment group and the control group.