Gender and immunosuppression impact on Merkel cell carcinoma diagnosis and prognosis. A population based cohort study.

Background: Merkel cell carcinoma (MCC), a rare cutaneous neuroendocrine endocrine tumour is increasing in incidence, and continues to carry a poor prognosis.

Objectives: The objectives of this study were to examine all Irish cases of MCC from 1 January 1994 over 2 decades, focusing on gender and organ transplantation recipients (OTRs). Cases were identified from the National Cancer Registry of Ireland.

Local versus general anesthesia transperineal prostate biopsy: Tolerability, cancer detection, and complications.

Objectives: To compare data on transperineal template biopsy (TPTB) under general anesthesia (GA) compared with local anesthesia (LA) procedures using the PrecisionPoint™ Transperineal Access System (PPTAS) in relation to tolerability, cancer detection rate, complications, and cost.

Methods: A prospective pilot cohort study of patients undergoing transperineal biopsy was performed. Patients were excluded if they had concurrent flexible cystoscopy or language barriers.

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic MBD4 variants within four families and these individuals had a personal and/or family history of adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. MBD4 encodes a glycosylase involved in repair of G:T mismatches resulting from deamination of 5'-methylcytosine.

The role of early extubation on short-term outcomes after liver transplantation - A systematic review, meta-analysis and expert recommendations.

Background: Early extubation in liver transplantation (LT) and its potential benefits such as reduction in pulmonary complications and enhanced postoperative recovery have been described. The extent of the effect of early extubation on short-term outcomes after LT across the published literature is to the best of our knowledge unknown.

Objectives: The objective of this systematic review and meta-analysis was to determine whether early extubation improves immediate and short-term outcomes after LT and to provide expert recommendations.

Awake tracheal intubation: Videolaryngoscopy in a pediatric institution: Use of guidelines and multidisciplinary team preparation to facilitate performance of an unfamiliar technique in a pediatric setting.

Formal guidelines for awake tracheal intubation have recently been published providing a streamlined process for the first time. We present a case of awake videolaryngoscopy in the pediatric setting, not previously reported. Application of guidelines and careful team preparation facilitated performance of a novel technique in our pediatric institution.

Randomized trials of therapeutic heparin for COVID-19: A meta-analysis.

Background: Pulmonary endothelial injury and microcirculatory thromboses likely contribute to hypoxemic respiratory failure, the most common cause of death, in patients with COVID-19. Randomized controlled trials (RCTs) suggest differences in the effect of therapeutic heparin between moderately and severely ill patients with COVID-19. We did a systematic review and meta-analysis of RCTs to determine the effects of therapeutic heparin in hospitalized patients with COVID-19.

Voluntary and non-voluntary blood donations among doctors.

Background: Physicians may be an important source of blood donations as they are more likely to be familiar with the importance of donating and the donation process. The aim of this study is to report physicians' knowledge, attitudes, and practices towards voluntary and non-voluntary blood donations.

Study Design And Methods: This was a cross-sectional study conducted at King Faisal Specialist Hospital and Research Centre (KFSH&RC), Saudi Arabia.

Emerging clinical perspectives in cystic fibrosis liver disease.

Purpose Of Review: Liver disease (CFLD) as a complication of cystic fibrosis is recognized as a more severe disease phenotype in both children and adults. We review recent advances in understanding the disease mechanism and consider the implications of new strategies for the diagnosis and management of cystic fibrosis in those with evidence of clinically significant liver disease.

Recent Findings: Evidence suggests that the prevalence of CFLD has not declined with the introduction of newborn screening.

Ondine's Curse in Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17 Caused by Variants.

Background: "Ondine's curse" or central hypoventilation, induces an apparently spontaneous failure of automatic respiratory drive, henceforth necessitating a conscious effort to breathe and sleep induced hypoventilation. It is typically seen in congenital central hypoventilation syndrome, but may be acquired.

Objectives: To highlight Ondine's curse as part of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) secondary to microtubule associated protein tau () variants.

The impact of liver disease on mortality in cystic fibrosis-A systematic review.

Background: There is conflicting evidence on the impact of liver disease (CFLD) on life expectancy in CF. Therefore the aim of this systematic review was to evaluate the impact of liver disease (CFLD) on mortality in CF.

Methods: The protocol was published at (https://hrbopenresearch.

Extracellular vesicles from monocyte/platelet aggregates modulate human atherosclerotic plaque reactivity.

Extracellular vesicles (EVs) are emerging as key players in different stages of atherosclerosis. Here we provide evidence that EVs released by mixed aggregates of monocytes and platelets in response to TNF-α display pro-inflammatory actions on endothelial cells and atherosclerotic plaques. Tempering platelet activation with Iloprost, Aspirin or a P2Y inhibitor impacted quantity and phenotype of EV produced.

Renal Phosphate Handling: Independent Effects of Circulating FGF23, PTH, and Calcium.

Excess fibroblast growth factor 23 (FGF23), excess PTH, and an increase in extracellular calcium cause hypophosphatemia by lowering the maximum renal phosphate reabsorption threshold (TmP/GFR). We recently reported two cases of X-linked hypophosphatemia (XLH) with severe tertiary hyperparathyroidism who had normalization of TmP/GFR upon being rendered hypoparathyroid following total parathyroidectomy, despite marked excess in both C-terminal FGF23 (cFGF23) and intact FGF23 (iFGF23). We explored the effects of FGF23, PTH, and calcium on TmP/GFR in a cross-sectional study ( = 74) across a spectrum of clinical cases with abnormalities in TmP/GFR, PTH, and FGF23.

Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG Co-A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has traditionally been associated with hypoketotic hypoglycemia, hepatomegaly and encephalopathy, presenting in early childhood following a period of fasting. We report the third case of mHS deficiency presenting in the absence of hypoglycemia, with profound biochemical abnormalities and further evidence of potential specific diagnostic biomarkers. A previously well, 20-month old, unvaccinated male, of nonconsanguineous Polish heritage, presented with encephalopathy, hepatomegaly, severe metabolic acidosis, and mild hyperammonemia following a brief intercurrent illness.

VTE risk assessment in pregnancy.

A State of the Art lecture, "VTE Risk Assessment in Pregnancy," was presented at the ISTH congress in Melbourne, Australia, in 2019. Venous thromboembolism (VTE) remains a leading cause of death in pregnancy and in the postpartum period. Moreover, VTE can result in lifelong disability.

DUBLIN [Degree of Ulcerative colitis Burden of Luminal Inflammation] Score, a Simple Method to Quantify Inflammatory Burden in Ulcerative Colitis.

Background And Aims: Endoscopic scores of local severity do not reflect disease extent, or disease burden. The DUBLIN score is a simple bedside clinical score that estimates inflammatory burden using both disease severity and extent. As the need to personalize therapy for ulcerative colitis [UC] patients increases, a score accurately assessing disease burden will be of great relevance.

Barriers and facilitators to hepatitis C (HCV) screening and treatment-a description of prisoners' perspective.

Background: Hepatitis C virus (HCV) infection is a global epidemic with an estimated 71 million people infected worldwide. People who inject drugs (PWID) are overrepresented in prison populations globally and have higher levels of HCV infection than the general population. Despite increased access to primary health care while in prison, many HCV infected prisoners do not engage with screening or treatment.

Cyclic nucleotide-dependent inhibitory signaling interweaves with activating pathways to determine platelet responses.

Platelets are regulated by extracellular cues that impact on intracellular signaling. The endothelium releases prostacyclin and nitric oxide which stimulate the synthesis of cyclic nucleotides cAMP and cGMP leading to platelet inhibition. Other inhibitory mechanisms involve immunoreceptor tyrosine-based inhibition motif-containing receptors, intracellular receptors and receptor desensitization.

Pneumothorax secondary to pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare impairment of pulmonary phosphate clearance that leads to gradual precipitation of intra-alveolar calcium phosphate microliths. There is often a striking difference between alarming clinical imaging and a relatively well patient. Pneumothorax in PAM often only respond to surgical intervention.