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UnknownClinical Features, Cardiovascular Risk Profile, and Therapeutic Trajectories of Patients with Type 2 Diabetes Candidate for Oral Semaglutide Therapy in the Italian Specialist Care.

Introduction

This study aimed to address therapeutic inertia in the management of type 2 diabetes (T2D) by investigating the potential of early treatment with oral semaglutide.

Methods

A cross-sectional survey was conducted between October 2021 and April 2022 among specialists treatin...
S-EPMC10597935 | biostudies-literature
UnknownIsoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Background

Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed model hypothesizes that variation in the levels of protein isoforms ge...
S-EPMC6858644 | biostudies-literature
UnknownTransplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats.
Stem cells are emerging as a therapeutic option for incurable diseases, such as Amyotrophic Lateral Sclerosis (ALS). However, critical issues are related to their origin as well as to the need to deepen our knowledge of the therapeutic actions exerted by these cells. Here, we investigate the therape...
S-EPMC6484011 | biostudies-literature
UnknownPredictive Factors for Super Responder Status and Long-Term Effectiveness of Guselkumab in Psoriasis: A Multicenter Retrospective Study.

Introduction

Psoriasis is a chronic inflammatory skin disorder, affecting around 2-3% of the global population. The IL-23/Th17 signaling pathway plays a critical role in disease progression. Guselkumab, an IL-23p19 monoclonal antibody, has shown substantial efficacy in clinical trials for tr...
S-EPMC12033149 | biostudies-literature
UnknownThe clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
The RASopathies are a group of clinically and genetically heterogeneous developmental disorders caused by dysregulation of the RAS/MAPK signalling pathway. Variants in several components and regulators of this pathway have been identified as the pathogenetic cause. In 2015, missense variants in A2ML...
S-EPMC7940614 | biostudies-literature
UnknownDefining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.
Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high prevalence of HCM. Among these, NM_002880.4:c.770C > T, NP_002871.1:p.(Ser257Leu) accounts for approximately half of cases and has...
S-EPMC11291835 | biostudies-literature
UnknownPrevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort i...
S-EPMC6770533 | biostudies-literature
TranscriptomicsAtrial Myxomas Arise From Multipotent Myxoid Cardiac Stem Cells
Myxomas, the most common primary tumor of the heart, usually develop in the atria and consist of a myxoid matrix composed of an acid-mucopolysaccharide-rich stroma with polygonal stromal cells scattered throughout the matrix. These benign tumors, despite their rarity, are a research focus because of...
ORGANISM(S): Homo sapiens 
2020-05-02 | E-MTAB-8642 | biostudies-arrayexpress
TranscriptomicsAtrial Myxomas Arise From Multipotent Myxoid Cardiac Stem Cells
Myxomas, the most common primary tumor of the heart, usually develop in the atria and consist of a myxoid matrix composed of an acid-mucopolysaccharide-rich stroma with polygonal stromal cells scattered throughout the matrix. These benign tumors, despite their rarity, are a research focus because of...
ORGANISM(S): Homo sapiens 
2020-04-01 | E-MTAB-8701 | biostudies-arrayexpress
UnknownEvaluation of the Molecular Landscape in PD-L1 Positive Metastatic NSCLC: Data from Campania, Italy.

Background

Immune-checkpoint inhibitors (ICIs) have increased and improved the treatment options for patients with non-oncogene-addicted advanced stage non-small cell lung cancer (NSCLC). However, the role of ICIs in oncogene-addicted advanced stage NSCLC patients is still debated. In this s...
S-EPMC9369105 | biostudies-literature
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