Publications by authors named "Merlini L"

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 PDF
Article Synopsis
  • Collagen VI, made of three chains encoded by specific genes, is crucial for the extracellular matrix and its defects are linked to muscular diseases like Ullrich congenital muscular dystrophy (UCMD).
  • A CRISPR genome editing strategy was developed to specifically target a harmful deletion in the collagen VI gene, achieving 32% editing efficiency and restoring the protein's secretion in patient fibroblasts.
  • The edited fibroblasts not only improved collagen VI levels but also positively impacted cell interactions, suggesting that CRISPR can effectively address genetic mutations in UCMD.
View Article and Find Full Text PDF

Breast 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 PDF
Article Synopsis
  • Triangular fibrocartilage complex (TFCC) injuries can lead to significant dysfunction, and the study examines the effectiveness of platelet-rich plasma (PRP) injections as an additional treatment alongside arthroscopic TFCC repair.
  • A total of 33 patients were studied, with some receiving PRP injections and others undergoing repair only; preoperative conditions showed no significant differences in wrist function or pain between the groups.
  • Results indicated that the non-PRP group had better postoperative function, as evidenced by lower Quick DASH scores, while pain levels remained similar across both groups, suggesting further research is necessary to evaluate PRP's effectiveness in TFCC repair.
View Article and Find Full Text PDF

 The 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 PDF

The 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 PDF

The 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 PDF
Article Synopsis
  • * This study examined how pericytes function in elderly individuals and those with muscular dystrophies linked to collagen VI mutations, highlighting the challenges of aging and muscle degeneration.
  • * The research demonstrated that aging affects pericytes negatively, impairing their ability to help form blood vessels, while young patients with collagen VI issues showed some similar traits but retained a stronger ability to cope with oxidative stress and support blood vessel formation.
View Article and Find Full Text PDF
Article Synopsis
  • Collagen VI-related dystrophies (COL6-RDs) include a range of conditions such as Ullrich congenital muscular dystrophy (UCMD), which features severe muscle weakness and respiratory issues, and Bethlem muscular dystrophy, which has milder and later-presenting symptoms.
  • Some patients with symptoms typical of COL6-RDs were previously undiagnosed until a deep intronic variant in COL6A1 was identified, leading to a severe form of UCMD in a cohort of 44 patients, except for one with a milder phenotype.
  • The study suggests that a new pseudoexon skipping therapy could effectively reduce the severity of UCMD symptoms by targeting the abnormal transcripts
View Article and Find Full Text PDF

The 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 PDF

Aims: 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 PDF

Background: 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.

View Article and Find Full Text PDF

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 PDF

Objective: 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 PDF
Article Synopsis
  • - The study explored the effectiveness of arthroscopic dorsal capsulodesis for treating chronic scapholunate (SL) injuries, proposing this method as a viable option for enhancing the radiographic SL angle over time.
  • - A total of 146 patients were monitored for one year post-surgery, revealing significant improvements in both the radiolunate (RL) and SL angles, demonstrating the method's efficacy without requiring invasive procedures.
  • - Results indicated that the RL angle improved from -7.23 degrees to 4.37 degrees, and the SL angle decreased from 74.55 to 54.95 degrees, showing meaningful radiological changes and stability after a year of follow-up.
View Article and Find Full Text PDF

Lunate 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 PDF

Pathogenetic 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 PDF

Collagen 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 PDF

In 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 PDF

Collagen 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 PDF

Congenital 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 PDF

A 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 PDF

Background: 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 PDF

Duchenne 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.

View Article and Find Full Text PDF

A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_sessionhglf7nns9fbbob7cr6j9duif3t8ed5vd): Failed to open stream: No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 177

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once

A PHP Error was encountered

Severity: Warning

Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)

Filename: Session/Session.php

Line Number: 137

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once