Part II: superconductivity observed in magnetically separated nanoscale anatase titania at ambient temperature and pressure in an aqueous environment at its point of zero charge.

This is the first work to investigate if and/or how changes in the surface structure/properties affect the charge transfer resistance ( ) of anatase titania with decreasing particle size. It was accomplished by measuring the (Ω) of same weight anatase titania pellets, with particle sizes ranging from 5.31 nm to 142.

Increasing plasma calprotectin (S100A8/A9) is associated with 12-month mortality and unfavourable functional outcome in critically ill COVID-19 patients.

Background: Calprotectin (S100A8/A9) is a pro-inflammatory mediator primarily released from neutrophils. Previous studies have revealed associations between plasma calprotectin, disease severity and in-hospital mortality in unselected COVID-19 patients.

Objective: We aimed to assess whether plasma calprotectin dynamics during the first week of intensive care are associated with mortality and functional outcome in critically ill COVID-19 patients.

Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers.

Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, neurodegenerative disorder with no disease-modifying treatments. There is a dearth of information in the literature about the patient and caregiver experience living with DRPLA.

Objectives: This study aimed to (1) understand symptoms experienced by adult- and juvenile-onset DRPLA populations and their impact on daily life and (2) explore patient and caregiver treatment goals and clinical trial participation preferences.

The Healthcare and Societal Costs of Familial Intellectual Disability.

Most of the studies on the cost of intellectual disability are limited to a healthcare perspective or cohorts composed of individuals where the etiology of the condition is a mixture of genetic and non-genetic factors. When used in policy development, these can impact the decisions made on the optimal allocation of resources. In our study, we have developed a static microsimulation model to estimate the healthcare, societal, and lifetime cost of individuals with familial intellectual disability, an inheritable form of the condition, to families and government.

"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.

A diagnosis of the X-linked condition Fragile X syndrome (FXS) in a child commonly reveals the mother's carrier status. Previous research focused on the genetic counseling process for the child and maternal family, despite calls for more research on the support needs of fathers. This study explored experiences and support needs of fathers at least 1 year after their child's FXS diagnosis to understand barriers and enablers and optimize health outcomes for the family.

Home-based video assessment of ease of movement for patients with Duchenne: Interviews with physical therapists to select movement tasks.

Background And Purpose: Patients with Duchenne muscular dystrophy (DMD) change their movement patterns to compensate for muscle weakness. The Duchenne Video Assessment (DVA) measures ease of movement through evaluation of compensatory movements. The DVA directs caregivers to video record patients performing home-based movement tasks using a mobile application, and DVA-certified physical therapists evaluate the videos using scorecards with prespecified compensatory movement criteria.

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.

The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb size (herein described as the K/L mediated Xq28 duplication syndrome). We describe five families, including nine males with K/L mediated Xq28 duplications, some with regions of greater copy number variation (CNV). We summarise findings in 25 affected males reported to date.

Intensive care unit burden is associated with increased mortality in critically ill COVID-19 patients.

Background: Traditional models to predict intensive care outcomes do not perform well in COVID-19. We undertook a comprehensive study of factors affecting mortality and functional outcome after severe COVID-19.

Methods: In this prospective multicentre cohort study, we enrolled laboratory-confirmed, critically ill COVID-19 patients at six ICUs in the Skåne Region, Sweden, between May 11, 2020, and May 10, 2021.

Development of Duchenne Video Assessment scorecards to evaluate ease of movement among those with Duchenne muscular dystrophy.

Background: Patients with Duchenne muscular dystrophy (DMD) adopt compensatory movement patterns as muscles weaken. The Duchenne Video Assessment (DVA) measures patient ease of movement through identification of compensatory movement patterns. The DVA directs caregivers to video record patients performing specific movement tasks at home using a secure mobile application, and DVA-certified physical therapists (PTs) score the videos using scorecards with prespecified compensatory movement criteria.

Reliability and construct validity of the Duchenne Video Assessment.

Introduction: The Duchenne Video Assessment (DVA) assesses quality of movement as an indication of Duchenne muscular dystrophy (DMD) disease severity. Caregivers video record patients performing home-based movement tasks using a mobile application, and physical therapists (PTs) rate the videos using scorecards with prespecified compensatory movement criteria. Reliability and construct validity of the DVA were tested using video and Pediatric Outcomes Data Collection Instrument (PODCI) data from patients with DMD and healthy controls from a separate study.

Long-term survival after self-expanding metallic stent or stoma decompression as bridge to surgery in acute malignant large bowel obstruction.

Aim: Self-expanding metallic stents (SEMS) as bridge to surgery have been questioned due to the fear of perforation and tumour spread. This study aimed to compare SEMS and stoma as bridge to surgery in acute malignant large bowel obstruction in the Swedish population.

Method: Medical records of patients identified via the Swedish Colorectal Cancer Register 2007-2009 were collected and scrutinized.

Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit.

Background: The aim of this study was to identify factors predicting outcome in patients with mitochondrial disease admitted to pediatric intensive care units (PICU).

Methods: Retrospective study of 2434 patients (age <21 years) admitted to a PICU from 1 January 2006 through 31 March 2016 and captured in the Virtual Pediatric Systems database with ICD9 diagnosis 277.87, disorders of mitochondrial metabolism.

The IKZF1-IRF4/IRF5 Axis Controls Polarization of Myeloma-Associated Macrophages.

The bone marrow niche has a pivotal role in progression, survival, and drug resistance of multiple myeloma cells. Therefore, it is important to develop means for targeting the multiple myeloma bone marrow microenvironment. Myeloma-associated macrophages (MAM) in the bone marrow niche are M2 like.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

Interpretation of the significance of maternally inherited X chromosome variants in males with neurocognitive phenotypes continues to present a challenge to clinical geneticists and diagnostic laboratories. Here we report 14 males from 9 families with duplications at the Xq13.2-q13.

Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.

People with intellectual disability (PWID) consistently identify the importance of health service information that is accessible and relevant. Resources tailored to the information and support needs of PWID can facilitate inclusivity in their health care (including access to genomic medicine) and improve healthcare outcomes. Despite the fact that PWID are commonly referred to genetics services, there is a lack of appropriate resources to help them prepare for their appointments.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer.

Adapting traditional content validation methods to fit purpose: an example with a novel video assessment and training materials in Duchenne muscular dystrophy (DMD).

Purpose: The Duchenne muscular dystrophy (DMD) Video Assessment requires a caregiver to record six videos of their ambulatory child performing physical activities using a smartphone application (app). Innovative assessments that combine a performance measure, technology, and an observer require new approaches to content validation studies. This study presents a novel approach to establish the feasibility and content validity of the Video Assessment and usability of the app.

Risk Factors for Developing Nonmelanoma Skin Cancer after Lung Transplantation.

Background: Nonmelanoma skin cancer (NSMC) is the most common malignancy after organ transplantation. Lung transplant recipients (LTRs) are particularly prone to develop NMSC as compared to renal or hepatic transplant recipients due to higher dosages of immunosuppression needed. Everolimus, an immunosuppressant used in organ transplant recipients, is thought to inherit a lower risk for NMSC than calcineurin inhibitors, especially in renal transplant recipients.