Publications by authors named "A Venturoli"
Article Synopsis
- Emery Dreifuss muscular dystrophy (EDMD) is an inherited muscle disease that leads to early joint stiffness, gradual muscle weakness, and heart issues, caused by mutations in various genes, particularly the emerin gene for the X-linked form.
- A case study details a 40-year-old man who initially displayed symptoms at age 6 and was misdiagnosed with spinal muscular atrophy type 3 but later developed cardiac problems and severe muscle atrophy.
- Genetic testing revealed a new mutation in the emerin gene, enhancing the understanding of X-linked EDMD's clinical and genetic variations.
Background: Clinical and psychosocial outcomes of a multimodal surgical approach for chronic intestinal pseudo-obstruction were analyzed in 24 patients who were followed over a 2- to 12-year period in a single center after surgery or intestinal/multivisceral transplant (CTx).
Methods: The main reasons for surgery were sub-occlusion in surgery and parenteral nutrition-related irreversible complications with chronic intestinal failure in CTx.
Results: At the end of follow-up (February 2015), 45.
We describe a family carrying a γ-globin gene deletion associated with an increase of Hb A2 level beyond the normal range. The family included the proband, his sister and their father, all with increased Hb A2 and normal Hb F levels. The proband and his sister showed borderline values of mean corpuscular volume (MCV) and reduced values of mean corpuscular hemoglobin (Hb) (MCH).
View Article and Find Full Text PDFBackground: Collagen VI-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal laxity, serious respiratory dysfunction and cutaneous alterations, due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. The severe Ullrich congenital muscular dystrophy (UCMD) can be due to autosomal recessive mutations in one of the three genes with a related 25% recurrence risk. In the majority of UCMD cases nevertheless, the underlying mutation is thought to arise de novo and the recurrence risk is considered as low.
View Article and Find Full Text PDFIntroduction: Intestinal transplantation has become an accepted therapy for individuals permanently dependent on total parenteral nutrition (TPN) with life-threatening complications. Quality of life and psychological well-being can be seen as important outcome measures of transplantation surgery.
Methods: We evaluated 24 adult intestinal transplant recipients and 24 healthy subjects (a control group).