The Role of Echocardiogram and Cardiac Rhythm Analysis for Early Detection of Cardiac Amyloidosis.

Purpose: The purpose of this integrative review was to establish the role of cardiac rhythm analysis (electrocardiogram; EKG) and echocardiogram in increasing clinical suspicion for and earlier diagnosis of cardiac amyloidosis.

Methods: A literature review was conducted using PubMed and Scopus databases. Dates searched were from January 2017 to May 2021.

Characterization and Pharmacological Validation of a Preclinical Model of NASH in Göttingen Minipigs.

Background: Nonalcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disease, which is associated with features of metabolic syndrome. NAFLD may progress in a subset of patients into nonalcoholic steatohepatitis (NASH) with liver injury resulting ultimately in cirrhosis and potentially hepatocellular carcinoma. Today, there is no approved treatment for NASH due to, at least in part, the lack of preclinical models recapitulating features of human disease.

Incentives, lockdown, and testing: from Thucydides' analysis to the COVID-19 pandemic.

In this work, we provide a general mathematical formalism to study the optimal control of an epidemic, such as the COVID-19 pandemic, via incentives to lockdown and testing. In particular, we model the interplay between the government and the population as a principal-agent problem with moral hazard, à la Cvitanić et al. (Finance Stoch 22(1):1-37, 2018), while an epidemic is spreading according to dynamics given by compartmental stochastic SIS or SIR models, as proposed respectively by Gray et al.

Radiation dose to nuclear medicine technologists when operating PET/MR compared with PET/CT.

Since 2010, positron emission tomography/magnetic resonance (PET/MR) has been increasingly used as clinical routine in nuclear medicine departments. One advantage of PET/MR over PET/computed tomography (CT) is the lower dose of ionising radiation delivered to patients. However, data on the radiation dose delivered to staff operating PET/MR compared with the new generation of PET/CT equipment are still lacking.

Upstream open reading frames regulate translation of cancer-associated transcripts and encode HLA-presented immunogenic tumor antigens.

Background: Upstream open reading frames (uORFs) represent translational control elements within eukaryotic transcript leader sequences. Recent data showed that uORFs can encode for biologically active proteins and human leukocyte antigen (HLA)-presented peptides in malignant and benign cells suggesting their potential role in cancer cell development and survival. However, the role of uORFs in translational regulation of cancer-associated transcripts as well as in cancer immune surveillance is still incompletely understood.

Procollagen C-Proteinase Enhancer-1 (PCPE-1) deficiency in mice reduces liver fibrosis but not NASH progression.

Background And Aims: Nonalcoholic Steatohepatitis (NASH) is a major cause of end-stage liver diseases such as cirrhosis and hepatocellular carcinoma resulting ultimately in increased liver-related mortality. Fibrosis is the main driver of mortality in NASH. Procollagen C-Proteinase Enhancer-1 (PCPE-1) plays a key role in procollagen maturation and collagen fibril formation.

Somatic Functional Deletions of Upstream Open Reading Frame-Associated Initiation and Termination Codons in Human Cancer.

Upstream open reading frame (uORF)-mediated translational control has emerged as an important regulatory mechanism in human health and disease. However, a systematic search for cancer-associated somatic uORF mutations has not been performed. Here, we analyzed the genetic variability at canonical (uAUG) and alternative translational initiation sites (aTISs), as well as the associated upstream termination codons (uStops) in 3394 whole-exome-sequencing datasets from patient samples of breast, colon, lung, prostate, and skin cancer and of acute myeloid leukemia, provided by The Cancer Genome Atlas research network.

Type 2 diabetes is associated with impaired jejunal enteroendocrine GLP-1 cell lineage in human obesity.

Objectives: Altered enteroendocrine cell (EEC) function in obesity and type 2 diabetes is not fully understood. Understanding the transcriptional program that controls EEC differentiation is important because some EEC types harbor significant therapeutic potential for type 2 diabetes.

Methods: EEC isolation from jejunum of obese individuals with (ObD) or without (Ob) type 2 diabetes was obtained with a new method of cell sorting.

Radiation dose of nuclear medicine technicians performing PET/MR.

Since october 2015, PET/MR has been used extensively for clinical routine in the nuclear medicine department of the Pitié-Salpêtrière Hospital (Paris, France) with a throughput of 11 to 15 patients each day. While many studies have been conducted to investigate dose reduction strategies to patients with hybrid PET/MR devices, no study has focused on staff radiation safety. Knowing that patient positioning within the scanner takes longer in PET/MR than in PET/CT because of the placement of several local MR receive coils, a retrospective study was carried out to measure the radiation doses to nuclear medicine technologists from the patient.

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

We report on two unrelated families of Polish origin with variable expression of Fraser syndrome (FS; MIM#219000) due to homozygosity for the same pathogenic variant, c.6963_6964dup, of FRAS1. In one family, the disorder presented with perinatal and prenatal lethality.

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.

We present a natural history of a 32-year-old man with Hajdu-Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH2 (c.6424-6427delTCTG, p.Ser2142ArgfsX4), who has been followed up for a period of 23 years (between 9 and 32 years).

Jejunal T Cell Inflammation in Human Obesity Correlates with Decreased Enterocyte Insulin Signaling.

In obesity, insulin resistance is linked to inflammation in several tissues. Although the gut is a very large lymphoid tissue, inflammation in the absorptive small intestine, the jejunum, where insulin regulates lipid and sugar absorption is unknown. We analyzed jejunal samples of 185 obese subjects stratified in three metabolic groups: without comorbidity, suffering from obesity-related comorbidity, and diabetic, versus 33 lean controls.

Malignant pilomatricoma: two new observations and review of the relevant literature.

Malignant pilomatricoma or pilomatrical carcinoma is a rare malignant hair follicle neoplasm. This tumor is locally aggressive with increased tendency to recur, but a low metastatic potential. Its histopathological diagnosis is difficult and based on a detailed evaluation of the infiltrative nature, the importance of the mummified and necrotic cell component, atypical mitoses, and perineural or vascular invasion.

Cancer patients and advance directives: a survey of patients in a hematology and oncology outpatient clinic.

Background: In 2009, Germany enacted a new law supporting advance directives that led to heated discussions in the media and the public. 3 years after the law passed, we surveyed patients with malignant diseases with regards to their views on advance directives.

Patients And Methods: Between September 2011 and July 2012 an anonymous survey on advance directives was conducted among 617 patients at the hematology and oncology outpatient department of the University Hospital Mannheim, using a standardized questionnaire developed for this investigation.

Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the mineralocorticoid receptor (MR). Independent segregation of the mutations occurred in the family, with p.

Aldosterone resistance: structural and functional considerations and new perspectives.

Aldosterone plays an essential role in the maintenance of fluid and electrolyte homeostasis in the distal nephron. Loss-of-function mutations in two key components of the aldosterone response, the mineralocorticoid receptor and the epithelial sodium channel ENaC, lead to type 1 pseudohypoaldosteronism (PHA1), a rare genetic disease of aldosterone resistance characterized by salt wasting, dehydration, failure to thrive, hyperkalemia and metabolic acidosis. This review describes the clinical, biological and genetic characteristics of the different forms of PHA1 and highlights recent advances in the understanding of the pathogenesis of the disease.

Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.

Context: Type 1 pseudohypoaldosteronism (PHA1), a primary form of mineralocorticoid resistance, is due to inactivating mutations of the NR3C2 gene, coding for the mineralocorticoid receptor (MR).

Objective: The objective of the study was to assess whether different NR3C2 mutations have distinct effects on the pattern of MR-dependent transcriptional regulation of aldosterone-regulated genes.

Design And Methods: Four MR mutations affecting residues in the ligand binding domain, identified in families with PHA1, were tested.

[Home hospitalisation, the ideal area for testing telehealth].

Home hospitalisation is growing rapidly. Based on the coordination of care and the interdisciplinarity of the caregivers at the patient's bedside, it already practises the exchange and sharing of healthcare data. That is why it is an ideal area for developing computerised information and telemedicine systems.

How to optimize the economic viability of thyroid surgery in a French public hospital?

Study Objective: Physicians in France have been asked to change their day-to-day medical practice to reduce overall costs. We examine ways to achieve this goal in thyroid surgery.

Material And Methods: We defined and implemented a clinical pathway to optimize the economic viability of thyroid surgery by increasing revenues and lowering expenses.

Analysis of insulin sensitivity in adipose tissue of patients with primary aldosteronism.

Objective: The objective of the study was to assess the effect of high aldosterone levels on insulin sensitivity of adipose tissue in humans.

Methods: Visceral adipose tissue (VAT) was obtained from patients with aldosterone-producing adenoma (APA; n=14) and, as controls, nonfunctioning adenoma (NFA; n=14) undergoing laparoscopic adrenalectomy. Homeostasis model assessment index was higher and potassium was lower in APA than NFA (P<0.