Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

Fournier's Gangrene Severity Index and Charlson Comorbidity Index Predict Mortality, Intensive Care Unit Admission, and Length of Hospital Stay in Patients With Fournier's Gangrene: An Analysis of 264 Consecutive Patients.

Introduction Fournier's gangrene (FG) is a rapidly progressing necrotizing fasciitis. The Fournier's Gangrene Severity Index (FGSI), in conjunction with the Charlson Comorbidity Index (CCI), has been used as a mortality predictor during hospitalization. Patients with diabetes have also been shown to be at an increased risk for the development of FG.

Assessing the Use and Acceptability of Virtual Reality to Assist Coping in Children Undergoing Clinical Procedures.

Purpose: Virtual reality is used as a distraction tool during medical procedures that can cause anxiety and pain. We assessed the usefulness, engagement, value and feasibility of virtual reality to help children cope with routine clinical procedures.

Design And Methods: Quality improvement study.

Utilization of Partial Cytoreductive Nephrectomy in Patients with Metastatic Renal Cell Carcinoma.

Objectives: Cytoreductive nephrectomy for metastatic renal cell carcinoma (mRCC) is a standard of care. Partial nephrectomy (PN) in the setting of metastatic disease is an uncommon occurrence, and we aimed to characterize its utilization in a modern cohort.

Methods: The National Cancer Database was reviewed for patients with mRCC from 2010 to 2017.

The Development of a Chocolate-Based Chewable Tablet of Prednisolone-Enhancing the Palatability of Steroids for Pediatric Use.

Oral liquid prednisolone medications have poor acceptance among paediatric patients due to ineffective masking of the bitterness taste of prednisolone. This study aimed to develop a child-friendly prednisolone tablet using a patented chewable chocolate-based delivery system (CDS) previously applied successfully to mask the bitterness tastes of midazolam and tramadol. Prednisolone sodium phosphate (PSP) and prednisolone base (PB) CDS tablets were prepared, and the manufacturing process was optimised using a design of experiments (DoE) approach.

3-Dimensional Virtual Reality Versus 2-Dimensional Video for Distraction During the Induction of Anesthesia in Children to Reduce Anxiety: A Randomized Controlled Trial.

Background: Preoperative anxiety is common in children. It can contribute to negative experiences with anesthetic induction and may cause adverse physiological and psychological effects. Virtual reality (VR) and electronic tablet devices are 2 audiovisual distraction tools that may help to reduce anxiety and enhance the preoperative experience.

Effect of different lung recruitment strategies and airway device on oscillatory mechanics in children under general anaesthesia.

Background: Atelectasis has been reported in 68 to 100% of children undergoing general anaesthesia, a phenomenon that persists into the recovery period. Children receiving recruitment manoeuvres have less atelectasis and fewer episodes of oxygen desaturation during emergence. The optimal type of recruitment manoeuvre is unclear and may be influenced by the airway device chosen.

Patient positioning and its impact on perioperative outcomes in children: A narrative review.

Patient positioning interacts with a number of body systems and can impact clinically important perioperative outcomes. In this educational review, we present the available evidence on the impact that patient positioning can have in the pediatric perioperative setting. A literature search was conducted using search terms that focused on pediatric perioperative outcomes prioritized by contemporary research in this area.

Flexible bronchoscopy insufflated and high-flow nasal oxygen pilot trial (BUFFALO protocol pilot trial).

Background: Hypoxaemia occurs in approximately 30% of children during anaesthesia for flexible bronchoscopy. High-flow nasal oxygen (HFNO) can prolong safe apnoea time and be used in children with abnormal airways. During flexible bronchoscopy, there is limited evidence if HFNO confers advantages over current standard practice in avoiding hypoxaemia.

Predicting obstructive sleep apnoea and perioperative respiratory adverse events in children: role of upper airway collapsibility measurements.

Background: Obstructive sleep apnoea (OSA) and perioperative respiratory adverse events are significant risks for anaesthesia in children undergoing adenotonsillectomy. Upper airway collapse is a crucial feature of OSA that contributes to respiratory adverse events. A measure of upper airway collapsibility to identify undiagnosed OSA can help guide perioperative management.

A review of pediatric fasting guidelines and strategies to help children manage preoperative fasting.

Fasting for surgery is a routine step in the preoperative preparation for surgery. There have however been increasing concerns with regard to the high incidence of prolonged fasting in children, and the subsequent psycho-social distress and physiological consequences that this poses. Additionally, the past few years have yielded new research that has shown significant inter-individual variation in gastric emptying regardless of the length of the fast, with some patients still having residual gastric contents even after prolonged fasts.

The Lucerne Toolbox 2 to optimise axillary management for early breast cancer: a multidisciplinary expert consensus.

Clinical axillary lymph node management in early breast cancer has evolved from being merely an aspect of surgical management and now includes the entire multidisciplinary team. The second edition of the "Lucerne Toolbox", a multidisciplinary consortium of European cancer societies and patient representatives, addresses the challenges of clinical axillary lymph node management, from diagnosis to local therapy of the axilla. Five working packages were developed, following the patients' journey and addressing specific clinical scenarios.

Robust Chemoenzymatic Synthesis of Keratinimicin Aglycone Analogues Facilitated by the Structure and Selectivity of OxyB.

The emergence of multidrug-resistant pathogens poses a threat to public health and requires new antimicrobial agents. As the archetypal glycopeptide antibiotic (GPA) used against drug-resistant Gram-positive pathogens, vancomycin provides a promising starting point. Peripheral alterations to the vancomycin scaffold have enabled the development of new GPAs.

Congenital subglottic cyst: a rare cause for sudden airway compromise in a newborn.

A full-term infant developed stridor, respiratory distress and hypercarbia shortly after birth requiring urgent airway intervention. The patient underwent urgent intubation via rigid bronchoscopy. The diagnosis of congenital subglottic cyst was made.

ENDOTHELIAL GLYCOCALYX SHEDDING IN INTRA-ABDOMINAL SEPSIS: A FEASIBILITY STUDY.

Background: The endothelial glycocalyx layer (EGL) is a complex meshwork of glycosaminoglycans and proteoglycans that protect the vascular endothelium. Cleavage or shedding of EGL-specific biomarkers, such as hyaluronic acid (HA) and syndecan-1 (SDC-1, CD138) in plasma, have been shown to be associated with poor clinical outcomes. However, it is unclear whether levels of circulating EGL biomarkers are representative of the EGL injury within the tissues.

Exploiting the Endogenous Ubiquitin Proteasome System in Targeted Cancer Treatment.

To overcome the lack of specificity of cancer therapeutics and thus create a more potent and effective treatment, we developed a novel chimeric protein, IL2-Smurf2. Here, we describe the production of this chimeric IL2-Smurf2 protein and its variants, with inactive or over-active killing components. Using Western blots, we demonstrated the chimeric protein's ability to specifically enter target cells alone.

Anaesthesia related mortality data at a Tertiary Pediatric Hospital in Western Australia.

Background: Anaesthesia related mortality in paediatrics is rare. There are limited data describing paediatric anaesthesia related mortality. This study determined the anaesthesia related mortality at a Tertiary Paediatric Hospital in Western Australia.

Management of prostatosymphyseal fistula following photoselective vaporization of the prostate: Case series and systematic review of the literature.

Background: This study is aimed to describe our institutional experience and review the literature to date on prostatosymphyseal fistula (PSF), or puboprostatic fistula, following bladder outlet procedures such as transurethral resection of the prostate (TURP) or laser photoselective vaporization of the prostate (PVP).

Materials And Methods: We retrospectively queried our institutional experience for management of PSF following PVP performed for symptomatic benign prostatic hyperplasia. We also performed a systematic literature review for PSF following PVP or TURP.

Biosynthesis of selenium-containing small molecules in diverse microorganisms.

Selenium is an essential micronutrient in diverse organisms. Two routes are known for its insertion into proteins and nucleic acids, via selenocysteine and 2-selenouridine, respectively. However, despite its importance, pathways for specific incorporation of selenium into small molecules have remained elusive.