Learnings From a National Cyberattack Digital Disaster During the SARS-CoV-2 Pandemic in a Pediatric Emergency Medicine Department.

Objective: The primary objective was to analyze the impact of the national cyberattack in May 2021 on patient flow and data quality in the Paediatric Emergency Department (ED), amid the SARS-CoV-2 (COVID-19) pandemic.

Methods: A single site retrospective time series analysis was conducted of three 6-week periods: before, during, and after the cyberattack outage. Initial emergent workflows are described.

NTBI levels in C282Y homozygotes after therapeutic phlebotomy.

C282Y homozygotes exposed to sustained elevated transferrin saturation (TS) may develop worsening clinical symptoms. This might be related to the appearance of non-transferrin bound iron (NTBI) when TS≥50% and labile plasma iron (LPI) when TS levels reach 75-80%. In this study, NTBI levels were examined in 219 randomly selected untreated and treated C282Y homozygotes.

A community-targeted implementation of self-management for people with epilepsy and a history of negative health events (SMART): A research and community partnership to reduce epilepsy burden.

Aims: Self-management for people with epilepsy and a history of negative health events (SMART) is a behavioral intervention that has been demonstrated to reduce epilepsy-related complications and improve physical and mental health functioning among people with epilepsy (PWE) [1]. The Community-SMART (C-SMART) initiative was a 4-month prospective implementation of feasibility and pre/post outcomes of SMART in a community setting and in collaboration with key epilepsy service stakeholders.

Methods: Self-management for people with epilepsy and a history of negative health events is a group-format, entirely virtual intervention delivered in eight 60-90 sessions over the course of 8-10 weeks.

Phase 1/2a Trial of ISPASM.

Background And Purpose: Microthrombosis could play a role in delayed cerebral ischemia after aneurysmal subarachnoid hemorrhage. Tirofiban has shown promising results in reducing delayed cerebral ischemia in retrospective studies. However, the safety of using tirofiban in aneurysmal subarachnoid hemorrhage is not rigorously established.

Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.

Background: Cirrhosis develops in <10% of individuals homozygous for the C282Y variant in the homeostatic iron regulator (HFE) gene. Carriage of PCSK7:rs236918 is associated with an increased risk of cirrhosis in this population.

Aim: To determine if genetic variants significantly associated with the risk of alcohol- and NAFLD-related cirrhosis also modulate the cirrhosis risk in C282Y homozygotes.

Vertebral hemangiomas: Diagnosis and management. A single center experience.

Objective: Vertebral hemangiomas (VH) are common benign lesions involving the spine. Owing to the multiplicity of treatments, the management of VH has not always been consistent. In this retrospective review of a single center experience, indications and options available for the treatment of VH are outlined.

The Community-targeted Self-management of Epilepsy and Mental Illness (C-TIME) initiative: A research, community, and healthcare administration partnership to reduce epilepsy burden.

Aims: Comorbid mental health conditions (MHCs) such as depression and anxiety are common in people with epilepsy. Targeted Self-Management for Epilepsy and Mental Illness (TIME) is a behavioral program that targets mood symptoms in adults with epilepsy and comorbid MHCs. Building upon positive findings of a randomized controlled study to establish the efficacy of TIME, the Community-TIME (C-TIME) initiative assessed the implementation feasibility and pre-/post-outcomes of this new evidence-based epilepsy self-management intervention in a community setting and in collaboration with key stakeholders.

Targeted Self-Management of Epilepsy and Mental Illness for individuals with epilepsy and psychiatric comorbidity.

Objectives: Serious mental illness is disproportionately common in people with epilepsy and contributes to complications and mortality. Few care approaches specifically target individuals who have epilepsy and severe mental illness. We used an iterative process to refine an existing intervention and tested the novel intervention, Targeted Self-Management for Epilepsy and Mental Illness (TIME) in individuals with epilepsy and comorbid mental illness (E-MI).

Correlates of hepcidin and NTBI according to HFE status in patients referred to a liver centre.

Background/aims: Innately low hepcidin levels lead to iron overload in HFE-associated hereditary haemochromatosis.

Methods: This study compared hepcidin and non-transferrin bound iron (NTBI) levels in untreated iron-loaded and non-iron-loaded C282Y homozygotes to levels in C282Y/H63D compound heterozygotes and individuals with other HFE genotypes associated with less risk of iron overload.

Results: As the genotypic risk for iron overload increased, transferrin saturation and serum NTBI levels increased while serum hepcidin levels decreased.

Defective bone morphogenic protein signaling underlies hepcidin deficiency in HFE hereditary hemochromatosis.

Unlabelled: Hereditary hemochromatosis (HH) is a common inherited iron overload disorder. The vast majority of patients carry the missense Cys282Tyr mutation of the HFE gene. Hepcidin, the central regulator of iron homeostasis, is deficient in HH, leading to unchecked iron absorption and subsequent iron overload.

Hepatic iron metabolism gene expression profiles in HFE associated hereditary hemochromatosis.

Background: Individuals with pathogenic mutations in HFE, hemojuvelin (HJV) and transferrin receptor 2 (TfR2) have low levels of hepcidin, but little is known about the hepatic expression of these molecules in patients with physiological iron overload or HFE associated Hemochromatosis (HH).

Aims: To examine the hepatic mRNA expression of iron homeostasis genes in patients with HH, physiological iron overload and healthy controls.

Patients: Untreated C282Y homozygous HH patients (n=20) with elevated serum ferritin (SF) and patients with physiological iron overload (n=12) with positive hepatocellular iron staining and negative HFE mutation analysis were evaluated.

DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis.

Background/aims: Homozygosity for a cysteine to tyrosine translocation at position 282 within the HFE gene (C282Y) is responsible for over 90% of hereditary hemochromatosis (HH) in Celtic populations. Determining those C282Y homozygotes at greatest risk for iron overload is a major clinical concern as only a small percentage will develop clinically significant iron overload. Divalent metal transport protein (DMT1) on the apical surface of duodenal enterocytes is recognised as the major iron import protein.

Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes share a common t(7;16)(q34;p11) translocation.

Low-grade fibromyxoid sarcoma (LGFMS) is a rare metastasizing soft tissue tumor with deceptively bland histologic features. The hyalinizing spindle cell tumor with giant rosettes (HSCT) is thought to be a closely related tumor differing only by the presence of collagen rosettes. We report the occurrence of a common t(7;16)(q34;p11) translocation in 2 cases of HSCT and 2 cases of LGFMS, thereby providing the first cytogenetic proof that LGFMS and HSCT are variants of the same entity.