Accès ouvert
2026
article
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
BACKGROUND: Costello syndrome (CS) is a rare genetic disorder within the spectrum of RASopathies, caused by activating mutations in the HRAS gene, leading to constitutive dysregulation of the RAS/MAPK signalling pathway. Among its multisystemic manifestations, a distinctive musculoskeletal involvement is frequently observed …
it
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Accès ouvert
2026
other
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
Abstract Background Costello syndrome (CS) is a rare genetic disorder within the spectrum of RASopathies, caused by activating mutations in the HRAS gene, leading to constitutive dysregulation of the RAS/MAPK signalling pathway. Among its multisystemic manifestations, a distinctive musculoskeletal involvement is frequently …
it, jp
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
Supplementary Material 1: Fasting biochemical parameters at the time of ultrasonography evaluationThe table summarizes the distribution of key biochemical markers in the study cohort, including lower and higher recorded values, median, and reference ranges. Parameters assessed included fasting glycemia, triglycerides (TAGs), total …
it, jp
(code pays fourni par la source)
Accès ouvert
2026
other
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
Abstract Background Costello syndrome (CS) is a rare genetic disorder within the spectrum of RASopathies, caused by activating mutations in the HRAS gene, leading to constitutive dysregulation of the RAS/MAPK signalling pathway. Among its multisystemic manifestations, a distinctive musculoskeletal involvement is frequently …
it, jp
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
Supplementary Material 1: Fasting biochemical parameters at the time of ultrasonography evaluationThe table summarizes the distribution of key biochemical markers in the study cohort, including lower and higher recorded values, median, and reference ranges. Parameters assessed included fasting glycemia, triglycerides (TAGs), total …
it, jp
(code pays fourni par la source)
Accès ouvert
2026
other
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
Supplementary Material 3: Lipid droplets detection in proliferating muscle cells stably expressing WT and mutants HRAS Representative images showing an increased amount of lipid droplets in proliferating myoblasts expressing HRAS mutants (G12S and G13C) compared to cells expressing WT HRAS and control …
it, jp
(code pays fourni par la source)
Accès ouvert
2026
other
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
Supplementary Material 3: Lipid droplets detection in proliferating muscle cells stably expressing WT and mutants HRAS Representative images showing an increased amount of lipid droplets in proliferating myoblasts expressing HRAS mutants (G12S and G13C) compared to cells expressing WT HRAS and control …
it, jp
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
Supplementary Material 2: Daily macronutrients kilocaloric intake according to reference range The table shows the distribution of participants with appropriate, below-range, or above-range daily caloric intake for carbohydrates, lipids, and proteins
it, jp
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan et autres
Supplementary Material 2: Daily macronutrients kilocaloric intake according to reference range The table shows the distribution of participants with appropriate, below-range, or above-range daily caloric intake for carbohydrates, lipids, and proteins
it, jp
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Federico Orsini, Giorgio Mazzotta, Luigi Carbone, Claudia Dell'atti et autres
PURPOSE: Spontaneous muscle hematomas (SMH) are frequently seen in the Emergency Department (ED), particularly as a complication of anticoagulation treatments. To date, there are no standard guidelines for the management of this condition in the ED. This work aims to identify clinical-radiological …
it
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Accès ouvert
2022
article
OpenAlex
Maria Luigia Angeli, Annemilia del Ciello, Claudia Dell'atti, Federico Orsini et autres
Waterhouse-Friderichsen syndrome is a rare disease characterized by bleeding into the adrenal glands, and its symptoms may vary from non-specific abdominal pain to multi-organ failure. Commonly related to a variety of infectious diseases among which sepsis from Neisseria meningitidis is the most …
it
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Accès ouvert
2010
article
OpenAlex
Gianluigi Sergiacomi, Francesca Bolacchi, Marcello Cadioli, Maria Luigia Angeli et autres
PURPOSE: To correlate conventional invasive pressure indexes of pulmonary circulation with pulmonary first-order arterial mean transit time (MTT) and time to peak enhancement (TTP) measured by means of three-dimensional time-resolved magnetic resonance (MR) angiography in patients with combined pulmonary fibrosis and emphysema …
it
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