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Introducción: La malnutrición proteico-energética (MPE) es un síndrome geriátrico muy frecuente que varia entre un 15 y 60% dependiendo del nivel asistencial analizado. Un estado nutricional deficiente dará lugar a una mayor morbilidad y mortalidad en la persona anciana. Objetivos: Estudiar la prevalencia de la desnutrición proteico-energética en personas atendidas en diferentes centros Mutuam y Fundación Conviure. Material y métodos: Se ha realizado una valoración nutricional en las personas atendidas en los diferentes centros Mutuam y Fundación Conviure. La valoración incluye el estudio del nivel cognitivo mediante MMS y GDS Reisberg, situación funcional (Índice Barthel) valoración de riesgo de úlceras (escala Norton), existencia depresión (Yesavage), comorbilidad (índice Charlson), trastornos del comportamiento alimentario (Blandford) y el estado nutricional se valora mediante el MNA. Resultados: Se han valorado 688 pacientes de los cuales un 65% tenían edad superior a 80 años siendo la mayoría enfermos ingresados en régimen de Larga estancia, Convalecencia, Residencia Asistida y Centros de Día, existía un mayor deterioro funcional los pacientes de Larga Estancia y Paliativos, conservando mayor autonomía los de Residencias y Centros de Día. El peor deterioro cognitivo se observa en enfermos de Larga Estancia y Centros de Día. A nivel nutricional el MNA revelaba un riesgo de malnutrición en todos los centros (53,8%) excepto en centros de Día. La desnutrición establecida la encontramos en 17,7% de los pacientes y en número superior en enfermos paliativos 45% y en larga estancia 38,1%. Conclusiones: La malnutrición proteico-energética es muy frecuente en los centros de internamiento en especial en centros de larga estancia. La malnutrición se correlaciona con un mayor deterioro funcional y cognitivo. El MNA es un buen indicador de riesgo nutricional como método de screening y para adoptar medidas preventivas en casos de riesgo. [ABSTRACT FROM AUTHOR]

The epidermal cyst, also called infundibular cyst, is a common benign skin tumor. This stems from the infundibular portion of the hair follicle, which rarely affects hairless areas such as the palms and soles. The etiology of epidermal cysts on palms and soles may be different from that caused by inflammation of the hair follicle. We report the case of a 30-year-old female patient with a lump in right plant, histology showed epidermal cyst. After surgical excision patient presented an adequate functional outcome without recurrence. [ABSTRACT FROM AUTHOR]

Ensembl (www.ensembl.org) is an open platform integrating publicly available genomics data across the tree of life with a focus on eukaryotic species related to human health, agriculture and biodiversity. This year has seen a continued expansion in the number of species represented, with >4800 eukaryotic and >31 300 prokaryotic genomes available. The new Ensembl site, currently in beta, has continued to develop, currently holding >2700 eukaryotic genome assemblies. The new site provides genome, gene, transcript, homology and variation views, and will replace the current Rapid Release site; this represents a key step towards provision of a single integrated Ensembl site. Additional activities have included developing improved regulatory annotation for human, mouse and agricultural species, and expanding the Ensembl Variant Effect Predictor tool. To learn more about Ensembl, help and documentation are available along with an extensive training program that can be accessed via our training pages., (© The Author(s) 2024. Published by Oxford University Press on behalf of Nucleic Acids Research.)

Purpose: Surgical repair is considered the mainstay of genital prolapse management. Several procedures are available both by vaginal and abdominal route, with and without mesh augmentation. The Italian UroGynecology Association (AIUG) promoted this survey with the aim of evaluating current variations in the surgical management of various types of prolapse in different clinical settings and to compare practice amongst practitioners working in high- and medium/low-volume centers., Participants and Methods: The questionnaire examined four contentious areas of contemporary prolapse management. The questionnaire was emailed to the AIUG gynecologist members in Italy in 2023., Results: A total of 104 complete responses were received, resulting in a 6.9% response rate. Native-tissue repair represents the preferred option in most scenarios and was proposed by 76%, 68.3%, 94.2%, and 52.9% of practitioners in the case of primary anterior, uterovaginal, posterior, and vault prolapse respectively. The use of vaginal mesh in these scenarios is very limited. Native tissue repairs in case of recurrent anterior, posterior, or apical recurrent prolapse would be performed only by 37.5%, 47.1%, and 28% of surgeons respectively. In these cases, the use of mesh - by vaginal and abdominal route - increased significantly., Conclusion: This survey showed that in Italy surgical management of genital prolapse is very heterogeneous. Native-tissue repair remains the preferred option, but practitioners tend to lose confidence in mesh-free procedures in case of prolapse recurrence. Despite mesh kits recalls and recommendations, the use of transvaginal implants is still considered an option for prolapse repair., Competing Interests: The author(s) report no conflicts of interest in this work., (© 2024 Frigerio et al.)

Background/objectives: HER2-positive breast cancer (HER2 + BC) is an aggressive subtype, with neoadjuvant treatment (NAT) aiming to achieve a pathological complete response (pCR) to improve long-term outcomes. Trastuzumab emtansine (T-DM1) has been established as the standard of care in the adjuvant setting for HER2 + BC patients who do not obtain pCR. The ATD study aimed to evaluate the real-world tolerability of T-DM1 in this setting. The secondary objective was to assess the effectiveness., Methods: This was a multicenter, retrospective study across 24 Italian oncology centers, including 410 patients with HER2 + BC treated with adjuvant T-DM1 following a lack of pCR after NAT. Patient characteristics, NAT regimens, and surgical outcomes were recorded. Tolerability was assessed by documenting adverse events (AEs) according to the CTCAE (v5.0). Preliminary effectiveness was evaluated in terms of relapse-free survival (RFS) and overall survival (OS)., Results: Overall, 228 patients (55.6%) experienced at least one AE related to T-DM1, with 4.9% experiencing grade 3 or higher AEs. The most common AEs were hepatotoxicity (18.5%) and thrombocytopenia (17.6%). T-DM1 was discontinued in 10.0% of patients due to toxicity. After a median follow-up of 25 months, 31 relapse events (7.6%) and 22 deaths (5.4%) were reported. The preliminary incidence of RFS and OS events was similar between patients who completed the T-DM1 course and those who discontinued it early., Conclusions: T-DM1 demonstrated a manageable safety profile, and the adverse events were consistent with those reported in randomized trials. The data are not yet sufficient to allow for a formal analysis of RFS and OS, and long-term follow-up is required.

Background: Pelvic floor dysfunctions (PFDs) have a complex, multifactorial pathophysiology that impacts women's health and must be identified to provide the most appropriate care and treatment. Therefore, symptom and quality of life (QoL) questionnaires, briefly identified as patient-reported outcomes (PROs), have been developed. Despite the large number of questionnaires available for the assessment of PFDs and QoL-related issues in English, few of them have been validated for the Italian language., Objectives: The aim of this article is to systematically review the literature on Italian-language validated PROs for PFDs assessment, along with practical information on literature references and suggestions on how to obtain each individual questionnaire., Methods: A systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement was performed up to 1 March 2024. PubMed/MEDLINE databases and websites were used to identify validated questionnaires in Italian language for PFDs. Once identified, the possibility of obtaining a copy of the questionnaire was checked, and the steps to obtain one are given in the text., Outcome: Thirty-five Italian-validated questionnaires were included: 17 out of 35 (48.6%) questionnaires focused on Lower urinary tract symptoms, 1 (2.8%) on genital prolapse symptoms, 8 (22.8%) on sexuality, 3 (8.6%) on bowel symptoms and 6 (17.2%) on pelvic dysfunctions. The literature search turned up seven more Italian PRO validation papers than the previous review. Specifically, the newly validated PROs include: Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaire (PISQ-12), Sexual Desire and Erotic Fantasies (SDEF) Questionnaire, Sexual Inhibition/Sexual Excitation Scales (SIS/SES), 12-Item Sexual Distress Scale (SDS) and 5-Item Sexual Distress Scale-Short Form (SDS-SF), Vaizey and Wexner and fecal incontinence severity index (FISI) questionnaires, Pelvic Floor Distress Inventory (PFDI-20) questionnaire, Intermittent Catheterization Acceptance Test (I-CAT)., Conclusions and Outlook: This systematic review is intended to be a tool to promote the adoption of appropriate PROs when studying PFDs in Italian patients., (S. Karger AG, Basel.)

Efficient import of nuclear-encoded proteins into mitochondria is crucial for proper mitochondrial function. The conserved translation factor eIF5A binds ribosomes, alleviating stalling at polyproline-encoding sequences. eIF5A impacts mitochondrial function across species, though the precise molecular mechanism is unclear. We found that eIF5A depletion in yeast reduces the translation and levels of the TCA cycle and oxidative phosphorylation proteins. Loss of eIF5A causes mitoprotein precursors to accumulate in the cytosol and triggers a mitochondrial import stress response. We identify an essential polyproline protein as a direct target of eIF5A: the mitochondrial inner membrane protein and translocase component Tim50. Thus, eIF5A controls mitochondrial protein import by alleviating ribosome stalling along Tim50 mRNA at the mitochondrial surface. Removal of polyprolines from Tim50 partially rescues the mitochondrial import stress response and translation of oxidative phosphorylation genes. Overall, our findings elucidate how eIF5A impacts the mitochondrial function by promoting efficient translation and reducing ribosome stalling of co-translationally imported proteins, thereby positively impacting the mitochondrial import process., (© 2024 Barba-Aliaga et al.)

In patients with total hip replacements (THRs), wear products in the form of nanoparticles and ions are released, especially around implant failure. In this study, we use N2a cells, a neuroblastoma cell line, to evaluate the effects of different flow rates on neuronal toxicity amidst exposure to CoCrMo particles. We hypothesized that increasing flow rates would increase N2a cell viability and decrease N2a cell-degradation products (DPs) toxicity. We conducted four 24-hour experiments, each with four flow rate conditions, 0, 50, 100, and 200 μL/min, based on the physiological shear stress of the vessels in the human body, to evaluate cell viability, cell morphology, and cell-DPs interaction. Steps included microfluidic channel preparation, N2a cell culturing, CoCrMo particle acquisition, microfluidic system assembly, and dynamic flow neurotoxicity evaluation, which included video microscopy, AlamarBlue, live/dead imaging, DAPI, and ROS assay. The results suggest that fewer neurotoxic reactions and greater viability at higher flow rates supported our hypothesis, although the full range of viable flow rates is yet to be studied. While cell-particle interaction is complex and dynamic, flow rate did modulate toxicity, viability, morphology, and growth environment. The microfluidic system should continue to be developed to study toxicology aspects of implants by simulating in vivo conditions more accurately., 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 Elsevier B.V. All rights reserved.)

Introduction and Hypothesis: This study aims to translate and validate the Pelvic Floor Impact Questionnaire - short form 7 (PFIQ-7) in Italian, assessing its validity, internal consistency, and test-retest reliability., Methods: The final version of the questionnaire was submitted to women referred to urogynecological outpatient care for genital prolapse or urinary incontinence and who either reported sexual disorders (controls) or not (cases). The questionnaire was translated into Italian using established procedural stages. Two weeks later, cases got the questionnaire for the test-retest evaluation. The non-parametric Wilcoxon test was employed to evaluate the variations between the case and control groups. Convergent validity was tested using the Italian version of the PFDI-20. The internal consistency was measured using Cronbach's Alpha. Using Cohen's kappa, the degree of concordance/agreement was determined. The test-retest results for different individuals were evaluated for absolute agreement using the intraclass correlation coefficient (ICC)., Results: The study then included 45 women with a mean age of 38.0 ± 11.7 years who answered the questionnaire with no dropouts or missing items. Participants were categorized into cases and controls based on their self-reported symptoms. The questionnaire demonstrated significant construct validity by effectively distinguishing between symptomatic and asymptomatic individuals. Convergent validity testing with the PFDI-20 showed a strong linear correlation (F < 0.001) between scores. Internal consistency was excellent, with Cronbach's Alpha values ranging from 0.90 to 0.93. Test-retest reliability was confirmed, with Cohen's Kappa values ranging from 0.62 to 0.92 and intraclass correlation coefficients from 0.88 to 0.94, indicating high reliability., Conclusion: The Italian version of the PFIQ-7 is reliable, valid, and consistent., 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. Published by Elsevier B.V.)

Background: Chronic pelvic pain is a debilitating condition affecting quality of life. Endometriosis is one of the leading causes of CPP, but recent studies highlighted the role of interstitial cystitis/bladder pain syndrome (IC/PBS) in causing CPP. Only some studies addressed the coexistence of these two conditions, which seems more frequent than what is supposed, leading to diagnostic delays and unnecessary surgeries. This systematic review aimed to evaluate the estimate of the prevalence of the comorbidity of endometriosis and IC/PBS., Methods: We performed a systematic review of the literature indexed on PubMed, Scopus, ISI Web of Science, and Cochrane using a combination of keywords and text words represented by "painful bladder syndrome", "endometriosis", "interstitial cystitis", and "bladder pain syndrome". We performed a meta-analysis of the results., Results: The meta-analysis shows that the coexistence of endometriosis and IC/PBS in women with CPP ranged from 15.5% to 78.3%, which is higher than the prevalence of IC/PBS in the general population., Conclusions: Prevalence data about the coexistence of endometriosis and IC/PBS are highly heterogeneous, probably due to the paucity of available data. However, in cases of endometriosis unresponsive to treatment, other reasons for CPP (such as IC/PBS) need to be ruled out.

The MYC oncogene is frequently overexpressed in tumors and inhibition of its translation is considered an attractive therapeutic opportunity. Despite numerous reports proposing an internal ribosome entry site (IRES) within the MYC Upstream Region (MYC UR) to sustain MYC translation during cellular stress or chemotherapy, conflicting evidence remains regarding the validity of such a mechanism. Through comprehensive investigations in MYC-driven Colorectal Cancer (CRC) and Burkitt Lymphoma (BL) cells, we demonstrate that MYC UR does not facilitate cap-independent translation, but instead orchestrates resistance to PI3K inhibitors. Genomic deletion of MYC UR neither impacts MYC protein levels nor viability in CRC cells, either untreated or exposed to cellular stress. However, in response to PI3K inhibitors, MYC UR drives a FOXO3a-dependent transcriptional upregulation of MYC, conferring drug resistance. This resistance is mediated by enhanced autophagic flux, governed by MYC, and blockade of autophagy sensitizes CRC cells to PI3K inhibition in vitro and in vivo. Remarkably, BL cells lacking the translocation of MYC UR exhibit sensitivity to PI3K inhibitors, whereas MYC UR-translocated cells respond to these drugs only when autophagy is inhibited. These findings challenge previous notions regarding IRES-mediated translation and highlight a promising strategy to overcome resistance to PI3K inhibitors in MYC-driven malignancies, offering potential clinical implications for CRC and BL treatment. In response to BKM120, the upstream region of MYC (UR) enhances MYC expression, via FOXO3a, leading to increased autophagic flux and resistance to PI3K inhibitors (left). Pharmacological blockade of autophagy (center) or lack of translocated MYC UR along with MYC CDS in BL (right) overcome resistance and induces cells death. Image created in BioRender., Competing Interests: Competing interests The authors declare no competing interests. Ethics approval and consent to participate All methods involving human derived materials and animal subjects were performed in accordance with the relevant local regulation and guidelines. All mouse experiments were performed according to the European Community Council Directive 2010/63/EU and carried out under the approval of the Institutional Animal Care Committee and Ministry of Health (protocol n. C1368.26). Patient-derived colorectal cancer stem cells were obtained in accordance with the ethical standards regarding Human Experimentation and informed consent was obtained from each patient in this study under Institutional Review Board protocols (authorization CE9/2015, Policlinico Paolo Giaccone, Palermo, Italy)., (© 2024. The Author(s), under exclusive licence to Springer Nature Limited.)

Introduction and Hypothesis: Surgical repair is the mainstay of genital prolapse management. Among native-tissue apical procedures, high uterosacral ligaments suspension is considered a valid and effective option for central compartment repair. In this study, we aimed to evaluate the effectiveness, complications rate, and functional results of high USL suspension as a primary prolapse repair technique in a large cohort of patients., Methods: Patients who underwent vaginal hysterectomy followed by high uterosacral ligaments suspension for POP between January 2008 and December 2020 were retrospectively analyzed. Questionnaires and clinical interviews were preoperatively performed to assess symptoms and severity of urinary, bowel, and sexual dysfunctions. After surgical procedure, diagnostic cystoscopy was performed to evaluate ureteral patency. Postoperative data, objective, and subjective cure rate were then noted at the follow-up evaluation., Results: A total of 1099 patients underwent high uterosacral ligaments suspension. The total complication rate was 3.4 % and recurrence in any of the vaginal compartments was 12.4 %. Reoperation for symptomatic prolapse recurrence or pessary treatment was required in 9 women (0.9 %). In the evaluation of postoperative questionnaires, functional outcomes analysis revealed a significant improvement (p < 0.05) in terms of stress urinary incontinence, urge urinary incontinence, voiding symptoms, constipation, and dyspareunia after prolapse repair., Conclusion: Uterosacral ligament suspension is a safe and effective procedure for primary surgical treatment of pelvic organ prolapse. Anatomical, functional, and subjective outcomes were very satisfactory, and the reoperation rate for recurrence was below 1%., 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.)

Objective: Enhanced recovery after surgery (ERAS) protocols have been introduced in gynecology. Postoperative pain management after vaginal procedures remains a relevant issue. In the present study we aimed to evaluate the effectiveness of pre-emptive uterosacral/cervical block (PUCB) for postoperative pain control in patients with uterovaginal prolapse undergoing vaginal hysterectomy and pelvic floor repair. We also evaluated the impact on the length of recovery., Methods: This was a pilot study analyzing 40 women who underwent pelvic organ prolapse repair through uterosacral ligament suspension. Patients who chose to undergo PUCB were considered as cases, otherwise as controls. After general or spinal anesthesia induction, the treatment group received the PUCB with ropivacaine plus clonidine injections at 2, 4, 8, and 10 o'clock of the cervix. The control group did not receive additional treatment. Pain intensity was measured at rest and after forceful cough at 1, 4, 8, 12, 24, and 48 h postoperatively., Results: We found a significant reduction in pain values at 1 h (rest and forceful cough) and 24 h (forceful cough) in the PUCB group. The incidence of moderate/severe pain was inferior in the PUCB group at 1 h (rest) and 24 h (rest and forceful cough). There were no differences in terms of the use of rescue opioids (0% vs. 5%; P = 0.311) and length of hospital stay (2.5 ± 0.6 vs. 2.3 ± 0.6; P = 0.180)., Conclusions: For the first time, we demonstrated the impact of pre-emptive uterosacral/cervical block on pain control up to 24 h after surgery. Clonidine as a sensory blockade extender appears promising in enhancing the efficacy of local anesthetics., (© 2024 International Federation of Gynecology and Obstetrics.)

Vaginal vault prolapse is one of the main reasons for reoperation in patients with pelvic organ prolapse. Effective correction of the vaginal apex is essential for lasting repair for these women. Apical suspension of the sacrospinous ligament is probably one of the main vaginal treatments still offered to patients today. We proposed an evaluation of the functional and anatomical results of long-term sacrospinous ligament fixation., Objective: The purpose of this study was to evaluate the 10-year results of sacrospinous ligament suspension as primary repair for apical prolapse and to evaluate long-term side effects., Materials and Methods: A retrospective study analyzed 10-year follow-up after prolapse repair using sacrospinous ligament suspension. A subjective recurrence was identified as the postoperative occurrence of swelling symptoms based on a particular item on the Italian Prolapse Quality of Life (P-QoL) questionnaire. An objective recurrence was defined as a postoperative decline to stage II or below in any compartment based on the POP-Q system or the requirement for additional surgery. The assessment of postoperative subjective satisfaction was conducted using the Patient Global Impression of Improvement (PGI-I) score., Results: In total, 40 patients underwent sacrospinous ligament fixation. Objective recurrence was remarkably high, as it was observed in 17 (56.7%) patients. Subjective recurrence was reported by ten (33.3%) women, and reintervention occurred in two (6.7%) of patients. From the point of view of quality of life, according to the PGI-I, twenty-three (76.7%) patients described some degree of improvement after surgery, four (13.3%) described their status as unmodified, and three (10%) reported some form of worsening after primary treatment., Conclusions: Transvaginal repair with sacrospinous fixation is a long-lasting option for prolapse repair, with improvement in every POP-q parameter. Some degree of anterior recurrence, recurrence of symptoms with swelling, or an overall worsening of quality of life after surgery is possible.

Transgender individuals exhibit a higher prevalence of cancer-related risk factors, such as substance abuse and sexually transmitted infections. These factors, coupled with suboptimal adherence to cancer screening recommendations, may lead to a higher incidence of cancers, such as breast and cervical cancer, and contribute to delayed diagnoses in transgender patients. Herein, we report a unique case of a transgender man with a history of alcohol and drug abuse, undergoing gender-affirming exogenous testosterone therapy, who developed synchronous locally advanced breast cancer and human papilloma virus (HPV)-related cervical cancer. He underwent concurrent chemoradiation for cervical cancer and surgery followed by endocrine therapy for breast cancer. The treatments were suboptimals due to patient's comorbidities, among them liver cirrhosis leading to an early death. Additionally, we have conducted a review of existing literature, including case reports, clinical studies, and review articles investigating the role of potential risk factors specifically related to breast and cervical tumors in transgender men. Gender-affirming testosterone therapy is common among transgender men to induce gender affirmation, but its link to breast cancer risk remains ambiguous, with studies being limited and sometimes contradictory. Conversely, HPV is a well-established cause of up to 99% of cervical cancers. Despite persistent risk for cervical cancer in transgender men who retain their cervix, several studies indicate notable disparities in screening adherence, due to personal and structural barriers. Moreover, alcohol and drug use disorders, commonly encountered in transgender population, may negatively influence the adherence to screening programs. Current cancer screening guidelines for this population are somewhat unclear, and specific programs based on more robust data are urgently required along with further tailored studies., Competing Interests: FSDL: Novartis, Gentili, Pfizer, Daiichi-Sankyo and Ipsen, outside the submitted manuscript. LF: Gilead, Daiichi-Sankyo, Gentili and Eisai, outside the submitted manuscript. LP: Pfizer and Novartis, outside the submitted manuscript. DS: MSD, outside the submitted work. PV: Pfizer, Novartis, Eisai, Daiichi Sankyo, Ipsen and Eli Lilly, outside the submitted work. AV, TA, BC, GS, EK, MB, FL, FR, CB, and GC declare no competing interests., (© The Author(s), 2024.)

We assessed the impact of DNA damage response and repair (DDR) biomarker expressions in 222 node-positive early breast cancer (BC) patients from a previous Phase III GOIM 9902 trial of adjuvant taxanes. At a median follow-up of 64 months, the original study showed no disease-free survival (DFS) or overall survival (OS) differences with the addition of docetaxel (D) to epirubicine-cyclophosphamide (EC). Immunohistochemistry was employed to assess the expression of DDR phosphoproteins (pATM, pATR, pCHK1, γH2AX, pRPA32, and pWEE1) in tumor tissue, and their association with clinical outcomes was evaluated through the Cox elastic net model. Over an extended follow-up of 234 months, we confirmed no significant differences in DFS or OS between patients treated with EC and those receiving D → EC. A DDR risk score, inversely driven by ATM and ATR expression, emerged as an independent prognostic factor for both DFS (HR = 0.41, p < 0.0001) and OS (HR = 0.61, p = 0.046). Further validation in a public adjuvant BC cohort was possible only for ATM, confirming its protective role. Overall, our findings confirm the potential role of the DDR pathway in BC prognostication and in shaping treatment strategies advocating for an integrated approach, combining molecular markers with clinical-pathological factors.