Video-based assessments of activities of daily living: generating real-world evidence in pediatric rare diseases.

Introduction: Preserving function and independence to perform activities of daily living (ADL) is critical for patients and carers to manage the burden of care and improve quality of life. In children living with rare diseases, video recording ADLs offer the opportunity to collect the patients' experience in a real-life setting and accurately reflect treatment effectiveness on outcomes that matter to patients and families.

Areas Covered: We reviewed the measurement of ADL in pediatric rare diseases and the use of video to develop at-home electronic clinical outcome assessments (eCOA) by leveraging smartphone apps and artificial intelligence-based analysis.

"Because it is a rare disease…it needs to be brought to attention that there are things out of the norm": a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US.

Background: Wilson disease (WD) is a genetic disorder of copper metabolism that leads to copper accumulation in various organs, primarily the liver and brain, resulting in heterogenous hepatic, neurologic, and psychiatric symptoms. Diagnosis can occur at any age, requiring lifelong treatment, which can involve liver transplantation. This qualitative study aims to understand the wider patient and physician experience of the diagnosis and management of WD in the US.

Delphi panel to obtain clinical consensus about using long-acting injectable antipsychotics to treat first-episode and early-phase schizophrenia: treatment goals and approaches to functional recovery.

Background: Schizophrenia is mostly a chronic disorder whose symptoms include psychosis, negative symptoms and cognitive dysfunction. Poor adherence is common and related relapse can impair outcomes. Long-acting injectable antipsychotics (LAIs) may promote treatment adherence and decrease the likelihood of relapse and rehospitalization.

Delphi panel to obtain clinical consensus about using long-acting injectable antipsychotics to treat first-episode and early-phase schizophrenia: Treatment goals and approaches to functional recovery.

Background Schizophrenia is mostly a chronic disorder whose symptoms include psychosis, negative symptoms and cognitive dysfunction. Poor adherence is common and related relapse can impair outcomes. Long-acting injectable antipsychotics (LAIs) may promote treatment adherence and decrease the likelihood of relapse and rehospitalization.

MRI quantification of femoral neck version using the posterior lesser trochanteric line: a comparison of three measurements.

Objective: To validate MRI for the quantification of the femoral neck version (FNV) using posterior lesser trochanteric Line (PLTL) and to compare reliability of the PLTL to the epicondylar and retrocondylar measurements.

Materials And Methods: A retrospective review of 3 T MRI scans performed for femoroacetabular impingement (FAI). Two musculoskeletal radiologists performed the measurements.

Association of Three-Month Radiographic Union Score for Tibia Fractures (RUST) with Nonunion in Tibial Shaft Fracture Patients.

Objectives Nonunions of tibial shaft fractures have profound implications on patient quality of life and are associated with physical and mental suffering. Radiographic Union Score for Tibia Fractures (RUST) may serve as an important prognostic tool for identifying patients at a high risk of nonunion. Design We used data from the Study to Prospectively Evaluate Reamed Intramedullary Nails in Patients with Tibial Fractures (SPRINT) and Fluid Lavage of Open Wounds (FLOW) trials to explore the association of three-month RUST scores with nonunion in patients with tibial shaft fractures treated with intramedullary nailing.

Posterior ankle labral changes at MRI: A preliminary study.

Introduction: The transverse ligament in the ankle joint has been described as a labrum-like structure in a previous cadaveric study. The purpose of this study is to assess the spectrum of abnormal changes related to this structure on imaging/MRI, and correlate these findings with other ankle joint findings and patient symptoms.

Method: A retrospective observational review of 172 ankle MRI scans was carried out independently by two fellowship trained musculoskeletal Radiologists.

Loss of Nek11 Prevents G2/M Arrest and Promotes Cell Death in HCT116 Colorectal Cancer Cells Exposed to Therapeutic DNA Damaging Agents.

The Nek11 kinase is a potential mediator of the DNA damage response whose expression is upregulated in early stage colorectal cancers (CRCs). Here, using RNAi-mediated depletion, we examined the role of Nek11 in HCT116 WT and p53-null CRC cells exposed to ionizing radiation (IR) or the chemotherapeutic drug, irinotecan. We demonstrate that depletion of Nek11 prevents the G2/M arrest induced by these genotoxic agents and promotes p53-dependent apoptosis both in the presence and absence of DNA damage.

Nek5 promotes centrosome integrity in interphase and loss of centrosome cohesion in mitosis.

Nek5 is a poorly characterized member of the NIMA-related kinase family, other members of which play roles in cell cycle progression and primary cilia function. Here, we show that Nek5, similar to Nek2, localizes to the proximal ends of centrioles. Depletion of Nek5 or overexpression of kinase-inactive Nek5 caused unscheduled separation of centrosomes in interphase, a phenotype also observed upon overexpression of active Nek2.

Computerized clinical decision support systems for acute care management: a decision-maker-researcher partnership systematic review of effects on process of care and patient outcomes.

Background: Acute medical care often demands timely, accurate decisions in complex situations. Computerized clinical decision support systems (CCDSSs) have many features that could help. However, as for any medical intervention, claims that CCDSSs improve care processes and patient outcomes need to be rigorously assessed.

Identification by high-throughput screening of viridin analogs as biochemical and cell-based inhibitors of the cell cycle-regulated nek2 kinase.

Nek2 is a serine/threonine protein kinase that localizes to the centrosome and is implicated in mitotic regulation. Overexpression of Nek2 induces premature centrosome separation and nuclear defects indicative of mitotic errors, whereas depletion of Nek2 interferes with cell growth. As Nek2 expression is upregulated in a range of cancer cell lines and primary human tumors, inhibitors of Nek2 may have therapeutic value in cancer treatment.