Oct 24th, 2021 - Polycythemia vera (PV) is a common type of Philadelphia chromosome-negative chronic myeloproliferative disorder. PV-associated kidney disease is rarely reported and remains poorly understood. It has been observed that chronic kidney disease could be a risk factor for poor prognosis in PV. We retrospectively analyzed the clinicopathological features of renal presentations in eight patients with ...

Oct 24th, 2021 - The 2019 European guidelines (ESC/EAS) for the treatment of dyslipidaemias recommend more aggressive targets for low-density lipoprotein cholesterol (LDL-C) in patients with familial hypercholesterolemia (FH). Current lipid-lowering treatment is often inadequate to achieve these targets. Data from the HELLAS-FH registry were analysed to assess achievement of LDL-C targets in adults with FH base...

Oct 24th, 2021 - The cavernous malformations (CM) affect approximately 0.5% of the population, with only a limited portion being located in the optic nerve and chiasma. The clinical presentation is determined by their locations. In the optochiasmatic CM, the acute visual disturbance is the most common presentation. Chronically, many show a progressive visual loss, chronic headache, and pituitary disturbances. T...

Oct 24th, 2021 - Pyroptosis, a type of regulated cell death controlled by the gasdermin family of proteins to form plasma membrane pores is known. Nonetheless, the function of pyroptosis-related long non-coding RNAs (lncRNAs) in this process still lacks exhaustive elucidation in head and neck squamous cell carcinoma (HNSCC). Other attributes encompassing the function of such lncRNAs in the immune microenvironme...

Oct 24th, 2021 - During the past decade, there have been considerable advances in understanding of the genetic and morphogenic processes underlying cortical malformations and developmental brain tumours. Focal malformations are caused by somatic (postzygotic) variants in genes related to cell growth (ie, in the mTOR pathway in focal cortical dysplasia type 2), which are acquired in neuronal progenitors during n...

Oct 24th, 2021 - Describe growth and feeding outcomes in patients with type C esophageal atresia, who underwent early primary repair, and to identify predictors for poor growth. Single-center, retrospective, cohort study of all patients with type C esophageal atresia, who underwent early primary repair, from 2013 to 2019. Weight-for-age z score (WAZ) was calculated at birth, and every 6 months until 3 years pos...

Oct 24th, 2021 - Eosinophilic esophagitis (EoE) can progress to fibrostenosis by unclear mechanisms. Herein, we investigated gene dysregulation in fibrostenotic EoE, its association with clinical parameters and specific pathways, and the functional consequences. Esophageal biopsies from subjects with EoE were collected across 11 Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) sites (n = ...

Oct 24th, 2021 - The primary aim of this paper was to describe SARS-CoV-2 infection among pregnant women during the Wild-type and the Alpha period in Italy, the secondary aim was to compare the impact of the virus variants on the severity of maternal and perinatal outcomes. National population-based prospective cohort study. 315 Italian maternity hospitals. 3,306 women with SARS-CoV-2 infection confirmed within...

Oct 24th, 2021 - Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease and has an estimated global prevalence of 25%. NAFLD is found in up to 80% of people with obesity and over 60% of patients with diabetes. Cardiovascular disease is the main cause of mortality, followed by extra-hepatic cancers and then liver-specific complications of cirrhosis and hepatocellular carcinoma...

Oct 24th, 2021 - To elucidate the reasons for the decreased effectiveness of Vedolizumab (VDZ) treatment in patients with Crohn's disease (CD) previously treated (CD-T) with anti-TNF-α biologics. Immunohistochemical staining was performed on sections of formalin-fixed paraffin-embedded ileocolonic biopsies using antibodies for the mucosal addressin molecule (MAdCAM-1) and Etrolizumab. The mean number of MAdCAM-...

Oct 24th, 2021 - Background: Kidneys with chronic inflammation develop tertiary lymphoid structures (TLSs). Infectious pyelonephritis is characterized by renal pelvis (RP) inflammation. However, the pathological features of TLSs, including their formation and association with non-infectious nephritis, are unclear. Methods: RPs from humans and mice that were healthy or had non-infectious chronic nephritis, were ...

Oct 24th, 2021 - Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism characterized by increased endogenous oxalate production. The metabolic pathways underlying oxalate synthesis have not been fully elucidated and upcoming therapies require more reliable outcome parameters than currently used plasma oxalate levels and urinary oxalate excretion rates. We therefore developed a stable is...

Oct 24th, 2021 - To determine the prevalence and determinants of diabetes mellitus (DM) among tuberculosis (TB) patients and to assess the additional yield and number needed to screen (NNS) to obtain a newly diagnosed DM among TB patients. We undertook a cross-sectional analysis of the cohort data under Regional Prospective Observational Research for Tuberculosis-India consortium. Newly diagnosed TB patients re...

Oct 24th, 2021 - We aimed to compare spatial extent of high-grade subregions detected with combined [18F]-dihydroxyphenylalanine (18F-DOPA) PET and MRI to the one provided by advanced multimodal MRI alone including Contrast-enhanced (CE) and Perfusion weighted imaging (PWI). Then, we compared the accuracy between imaging modalities, in a per biopsy analysis. Participants with suspected diffuse glioma were prosp...

Oct 24th, 2021 - Functional skin barrier requires sphingolipid homeostasis. 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene may cause erythrokeratoderma variabilis et progressive-4, later specified as PERIOPTER syndrome, emphasizing a characteristic periorifical and ptyc...

Oct 24th, 2021 - IgA nephropathy (IgAN) is one of the most prevalent primary glomerulopathies in children. There are various studies investigating the efficacy of angiotensin-converting enzyme inhibitors (ACEI) and angiotensin II receptor blockers (ARB) in adults with IgAN. However, only few studies evaluated the efficacy of these medications in pediatric patients. To evaluate the efficacy and safety of ACEI/AR...

Oct 24th, 2021 - To investigate the effect of disease modifying therapies on immune response to SARS-CoV2 vaccines in people with multiple sclerosis. 473 people with multiple sclerosis provided one or more dried blood spot samples. Information about COVID-19 and vaccine history, medical and drug history were extracted from questionnaires and medical records. Dried blood spots were eluted and tested for antibodi...

Oct 24th, 2021 - Currently, there are no straightforward guidelines for the clinical and diagnostic management of hyperCKemia, a frequent and nonspecific presentation in muscle diseases. Therefore, we aimed to describe our diagnostic workflow for evaluating patients with this condition. We selected 83 asymptomatic or minimally symptomatic patients with persistent hyperCKemia for participation in this Italian mu...

Oct 24th, 2021 - Unlike many viral infections such as influenza, and the two previous incarnations of the coronavirus, SARS and MERS, Covid-19 originally appeared to be of similar severity, after adjusting for age, BMI and other co-morbidities, in the pregnant as in the non-pregnant population. Worryingly the paper from the Italian Obstetric Surveillance System COVID-19 Working Group (p …), suggests that, in pr...

Oct 24th, 2021 - Morganella morganii is one of the main etiological agents of hospital-acquired infections and no licensed vaccine is available against the pathogen. Herein, we designed a multi-epitope-based vaccine against M. morganii. Predicted proteins from fully sequenced genomes of the pathogen were subjected to a core sequences analysis, followed by the prioritization of non-redundant, host non-homologous...