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One of the genetic mutations most associated with the onset of amyotrophic lateral sclerosis, both in sporadic and familial cases, is the expansion of the C9orf72 gene. The presence of more than 30 repeats (GGGGCC) correlates with uncertain ALS symptomatology. Here we collected a dermal biopsy from a subject carrying 36 hexanucleotide repeats and reprogrammed it into an induced pluripotent stem cell line. Despite the number of repeat elements, the subject had no symptoms at the age of the biopsy (76 years), thus resulting in a healthy carrier of the mutation.

Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an interstitial deletion of ∼ 3.7 Mb (17p11.2, including the RAI1 gene) in 90 % of cases and a mutation on the RAI1 gene in only 10 % of cases. We generated and characterized a human pluripotent stem cell line (hIPSCs) derived from primary fibroblasts of a 17-year-old woman carrying a 17p11.2 deletion including the RAI1 gene., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)

Recreational athletes are susceptible to experiencing pain in the Achilles tendon, affecting their ability to complete daily activities. Achilles tendinosis is a degenerative process of the tendon without histologic or clinical signs of intratendinous inflammation, which can be categorized by location into insertional and noninsertional tendinosis. This condition is one that can be treated conservatively with great success or surgically for refractory cases. Currently, there is a lack of consensus regarding the best treatment options. This review aims to explore both conservative and operative treatment options for Achilles tendinopathy and Achilles tendon rupture., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Study Objective: Alexithymia is a disorder of the regulatory mechanism of the emotion elaboration. To verify the influence of the personality trait in the evaluation of quality of life (QoL), we analyzed the effect of alexithymia on the outcome of gynecologic surgery. The purpose of this study was to investigate the presence of alexithymia by using the Toronto Alexithymia Scale (TAS)-20, and to examine the relationship between alexithymia and self-reported descriptors of QoL in a gynecologic population., Design: All patients were evaluated in a semistructured interview in which personal, medical, and social data were collected. They were provided with a set of questionnaires that included both measure of alexithymia (TAS-20) and QoL perception (the Medical Outcomes Study short-form general health survey-36 [SF-36]). The patients were assessed before the surgical procedure and 1 month postoperatively., Setting: Campus BioMedico Hospital in Rome, Italy., Patients: In all, 40 consecutive patients with benign gynecologic pathology were enrolled in the study., Interventions: A total of 20 of the patients underwent laparoscopy (LPS) and 20 underwent laparotomy (LPT)., Measurements and Main Results: Patients were separated into 2 groups, with respect to the TAS questionnaire score: the high-level alexithymia (HA) group, with scores above 59, and the low-level alexithymia group, with scores below 59. The HA group represented 61% in patients who underwent LPS and 50% in patients who were submitted to LPT. Patients who underwent LPS showed a slight decrease in the QoL score after the surgical procedure. Patients who underwent LPT showed different QoL scores depending on the high or low TAS level: high-level TAS group showed higher SF-36 domain scores compared with the presurgical scores, whereas low-level TAS group showed lower scores compared with the presurgical scores., Conclusion: Our data show that the subjective QoL tested with SF-36 in patients with gynecologic conditions undergoing surgery is clearly influenced by the level of alexithymia. This influence is clearly detectable when a more invasive surgery is performed. In this case, patients with low-level alexithymia show a worsening of QoL. Contrarily, patients with HA have a better perception of QoL after more invasive surgery.