Starvation, which is associated with inactivation of the growth-promoting TOR complex 1 (TORC1), is a strong environmental signal for cell differentiation. In the fission yeast Schizosaccharomyces pombe, nitrogen starvation has distinct physiological consequences depending on the presence of mating partners. In their absence, cells enter quiescence, and TORC1 inactivation prolongs their life.
View Article and Find Full Text PDFBreast cancer stands as the most frequently diagnosed cancer and the primary cause of cancer-related mortality among women worldwide, including Italy. With the increasing number of survivors, many are enrolled in regular follow-up programs. However, adherence to recommendations from scientific societies (such as ASCO, ESMO, AIOM) for breast cancer follow-up management varies in daily clinical practice across different cancer centers, potentially resulting in unequal management and escalating costs.
View Article and Find Full Text PDFThe ideal treatment of stage 3 Kienbock's disease is uncertain, with current open procedures conferring the risk of carpal instability, ulnar translocation, and stiffness. We present our technique of arthroscopic lunate excision, and discuss our short- to medium-term results. Via standard wrist arthroscopic portals, the lunate is excised using a combination of shavers, burrs, and rongeurs.
View Article and Find Full Text PDFThe dorsal intercarpal ligament (DICL) is crucial for carpal stability and is frequently associated with injuries to other carpal ligaments, notably the scapholunate and lunotriquetral interosseous ligaments. Although isolated DICL injuries are uncommon, they can manifest as ligament avulsions, bony avulsions, or attenuations from chronic injury. Surgical repair of isolated DICL tears may be necessary when conservative management fails.
View Article and Find Full Text PDFThe ulnocarpal ligament complex (UCLC), consisting of the ulnotriquetral, ulnolunate, and ulnocapitate ligaments, plays a pivotal role in maintaining ulnocarpal joint stability and is closely linked to the palmar radioulnar ligament (PRUL), preventing dorsal ulnar translation. Often, tears in the PRUL and UCLC coincide with lunotriquetral interosseous ligament (LTIL) tears as the result of their strong anatomical connections. Biomechanical studies have demonstrated that ulnar-shortening osteotomy enhances stability in the distal radioulnar joint, lunotriquetral joint, and UCLC by tightening the ligaments and capsules.
View Article and Find Full Text PDFThe pericellular matrix (PCM) is a specialized extracellular matrix that surrounds cells. Interactions with the PCM enable the cells to sense and respond to mechanical signals, triggering a proper adaptive response. Collagen VI is a component of muscle and tendon PCM.
View Article and Find Full Text PDFAims: Patients with midcarpal instability are difficult to manage. It is a rare condition, and few studies have reported the outcomes of surgical treatment. No prospective or retrospective study has reported the results of arthroscopic palmar capsuloligamentous suturing.
View Article and Find Full Text PDFBackground: The clinical value of tumor infiltrating lymphocytes (TILs) in hormone receptor-positive (HR+)/HER2- breast cancer (BC) may be unearthed by focusing on more biologically aggressive tumors. Here we deepen and describe the correlation between RS and TILs, proposing an immuno-genomic model for HR+ /HER2- BC.
Methods: We enrolled T1-T3, N0-N1 BC patients with available RS® and TILs in the context of four multicenter, prospective studies.
In advanced scapholunate instability, a scapholunate repair by open or arthroscopic ligamentoplasty is indicated. Although the radiographic results and functional scores are more or less satisfactory for open ligamentoplasty, it is often responsible for a decrease in joint amplitude postoperatively. Arthroscopic techniques are therefore of great interest, since they respect the joint capsule, but they remain technically difficult and demanding surgeries, requiring a good deal of experience in arthroscopy and using bone tunnels that are potentially a source of complications, as well as pinning to the palmar side of the wrist, which is potentially dangerous for the palmar structures of the wrist.
View Article and Find Full Text PDFObjective: Scapholunate instability is the most common ligament injury of the wrist. In case of predynamic instability, diagnosis can be difficult, even under arthroscopy. Scapholunate instability is not the result of an isolated injury to the scapholunate interosseous ligament.
View Article and Find Full Text PDFLunate pseudarthrosis is a complication of lunate fractures and few cases are described in the literature. We designed a case series of lunate pseudarthrosis, to acknowledge this topic and to show our clinical experience. Four patients were included in this study.
View Article and Find Full Text PDFPathogenetic mechanism recognition and proof-of-concept clinical trials were performed in our patients affected by collagen VI-related myopathies. This study, which included 69 patients, aimed to identify innovative clinical data to better design future trials. Among the patients, 33 had Bethlem myopathy (BM), 24 had Ullrich congenital muscular dystrophy (UCMD), 7 had an intermediate phenotype (INTM), and five had myosclerosis myopathy (MM).
View Article and Find Full Text PDFCollagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence.
View Article and Find Full Text PDFIn the most advanced cases of scapholunate instability with dynamic or static signs, classical arthroscopic repair seems impossible. Ligamentoplasties or open surgery procedures are technically demanding, hampered by significant operative complications and often stiffening. Therapeutic simplification is therefore necessary for the management of these complex cases of advanced scapholunate instability.
View Article and Find Full Text PDFCollagen VI exerts several functions in the tissues in which it is expressed, including mechanical roles, cytoprotective functions with the inhibition of apoptosis and oxidative damage, and the promotion of tumor growth and progression by the regulation of cell differentiation and autophagic mechanisms. Mutations in the genes encoding collagen VI main chains, and , are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myopathy (MM), which show a variable combination of muscle wasting and weakness, joint contractures, distal laxity, and respiratory compromise. No effective therapeutic strategy is available so far for these diseases; moreover, the effects of collagen VI mutations on other tissues is poorly investigated.
View Article and Find Full Text PDFCongenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. In this study we describe a patient with a congenital myopathy characterized by multiple contractures, a rigid spine, non progressive muscular weakness, and a novel homozygous TTN pathogenic variant in a metatranscript-only exon: the c.36400A > T, p.
View Article and Find Full Text PDFA conventional arthroscopic capsuloligamentous repair is a reliable surgical solution in most patients with scapholunate instability. However, this repair does not seem to be sufficient for more advanced injuries. The aim of this study was to evaluate the functional results of a wide arthroscopic dorsal capsuloligamentous repair (WADCLR) in the management of severe scapholunate instability.
View Article and Find Full Text PDFBackground: The aim of the present multi-center split-mouth randomized control trial was to investigate the effect on peri-implant tissue of abutment with chromium nitride/ niobium nitride (CrN/NbN) coatings (superlattice) compared to traditional machined surface. Methods: Two adjacent posterior implants were inserted in 20 patients. A machined abutment was randomly screwed on either the mesial or distal implant, while a superlattice abutment was screwed on the other one.
View Article and Find Full Text PDFDuchenne and Becker muscular dystrophies are allelic X-linked recessive neuromuscular diseases affecting both skeletal and cardiac muscles. Therefore, owing to their single X chromosome, the affected boys receive pathogenic gene mutations from their unknowing carrier mothers. Current pharmacological drugs are palliative that address the symptoms of the disease rather than the genetic cause imbedded in the gene DNA sequence.
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