Athens Medical Center

To provide an ESSKA-ESA formal Consensus to help general practitioners in their daily clinical decisions regarding the diagnosis and treatment of traumatic anterior shoulder instability (TASI) according to age and timing after injury. Part 1 is dedicated to the history-taking, physical examination and imaging studies. Patients were categorised into three age groups: adolescents (<20 years), young adults (20-40 years) and older adults (>40 years). Two clinical scenarios were addressed: first-time and recurrent dislocations. A formal consensus process was followed, including a steering group (15 experts from 9 countries), a rating group (18 experts from 18 countries) and a reader group (28 experts from 13 countries). The steering group formulated 35 clinical questions, 12 of which related to Part 1. Each question was answered with a statement and grade of recommendation (A-D), based on literature and expert opinion. The rating group reviewed and refined the statements, followed by validation from the reader group for cultural adaptability. Consensus was reached with high agreement: median (range) 9 (8-9). One question received a grade A recommendation, nine were B, and two were C. Most debated topics included imaging to guide treatment decisions in first-time dislocations, assessment of glenoid bone loss, and soft tissue quality. Each age group presents unique diagnostic considerations: younger patients have higher recurrence risk and activity levels; older patients more often present with associated soft-tissue injuries. While physical exam findings were consistent across ages, associated injuries gain importance with age. The distinction between first-time and recurrent dislocations significantly impacts imaging needs. The ESSKA-ESA Consensus highlights that age and timing (first-time versus recurrent) influence the decision-making when managing TASI. All parameters related to history taking, physical exam and imaging studies should be considered according to the patient's age and the number of dislocation episodes. Level II.

Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy. This systematic review aims to explore all current literature data regarding clinical and electroencephalographic features of MEB cases with epilepsy. Materials and Methods We conducted a literature review of previously published cases of patients with MEB and epilepsy in the PubMed and Scopus databases in the English language, focusing on seizure semiology and electroencephalographic features. Results We included 52 studies with 80 patients. The clinical spectrum of patients with MEB is broad, including hypotonia at birth, ocular symptoms, delay of motor milestones, and intellectual disability. Serum creatine kinase levels are significantly elevated (median value 1600 IU/L). POMGnT1 mutation is, by far, the most common mutation in MEB patients, reported in 38.8% of cases, followed by GMPPB (10%), FKTN, POMT2, or DPM2 mutations (less than 10%, respectively). Epilepsy is a common feature, with onset usually in the first 6 months of life. Absences are the most common seizure type (58.8% of patients), followed by generalized tonic–clonic (33.8%) and focal seizures (21.3%). Patients present with drug‐resistant epilepsy in approximately one fourth of cases (21.3%). Electroencephalogram (EEG) shows focal or multifocal discharges in approximately half of the cases, with a predominance over frontal or temporal regions. Slow and disorganized EEG background activity is commonly observed in 92.9% of cases. Conclusion Epilepsy is a common feature in MEB patients; its age of onset is usually in the first months of life, and it is often drug‐resistant. It can manifest with all seizure types, with absences being the most common type. EEG shows focal or multifocal discharges with a slow and disorganized EEG background. The POMGnT1 mutation is the most common in MEB patients with epilepsy. A clear understanding of the electroclinical patterns in MEB patients can contribute to improved diagnostic precision and management.

Abstract Background Identifying pathogenic/likely pathogenic variants in high-risk cancer genes is key to cancer risk management.Prophylactic surgeries like RRM and RRSO are guideline-recommended options. This study aims to provide real-world evidence on their clinical implementation. Methods Between 2020 and 2025, 203 women referred for genetic testing at Genekor Medical S.A., were detected with P/LP variants in cancer susceptibility genes, for which risk-reducing surgical options are either recommended or considered for discussion. Referring clinicians were invited to complete a questionnaire to assess whether prophylactic surgical options had been discussed, if the patients had agreed to undergo such procedures, and whether the surgeries have already been performed or postponed. Results Among the individuals referred for genetic testing, 168(83%) were referred following a cancer diagnosis, while 35(17%) were unaffected individuals referred due to a family history. 153 individuals (76%) harbored BRCA1/2, 31(15%) harbored PALB2, PTEN, TP53 and 19 (9%) harbored BRIP1,RAD51C, RAD51D P/LP variants. RRSO was discussed with 78/153 (51%) of BRCA1/2 carriers and agreed in 60/78 (77%) cases. Addition of hysterectomy to RRSO was discussed in 16/78 (21%) of cases and agreed in 10/16 (63%). RRM was discussed with 113/203 (56%) of patients and agreed in 73/113(65%). In PALB2, PTEN, TP53 carriers, RRM was discussed in 21/31 (68%) cases, and accepted in 9/21 (43%), while in 5 cases both RRM/RRSO were discussed with 3 women agreeing. Finally, for 19 BRIP1,RAD51C, RAD51D carriers, in 9 cases the physician discussed RRSO as an option, with the examinees agreeing in 7 of them and in 5 cases RRM was discussed with agreement to proceed in 2 of them. In all cases, 22 individuals although agreed to proceed with RRM and/or RRSO, decided to postpone the procedure. Conclusions This study highlights the high awareness and acceptance of surgical management demonstrating the adherence to the recommendations. Age under 35 years and receiving therapy at the time of genetic testing were significant factors in lowering risk reduction RRSO and hysterectomy performance rates. Stage IV cancer was the main reason for not discussing surgical intervention. Citation Format: K. Papazisis, M. Paraskeva, S. Giassas, M. Skondra, R. Iosifidou, C. Tolis, G. Kesisis, E. Zairi, V. Venizelos, C. Markopoulos, I. Natsiopoulos, E. Bleka, I. Xanthakis, A. Ananiadis, D. Matheos, D. Stefanou, A. Adamidis, A. Meintani, G. Kapetsis, D. Bouzarelou, E. Papadopoulou, G. Nasioulas. High-risk cancer susceptibility genes mutation carriers’ compliance with surgical risk reduction for breast and ovarian cancer [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2025; 2025 Dec 9-12; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2026;32(4 Suppl):Abstract nr PS3-05-05.

The multifaceted process of fertilization encompasses a precisely orchestrated cascade of molecular and morphological modifications of the participating male and female gametes. Fertilization culminates in the union of the maternal and paternal genomes and ultimately spark the development of a new individual. During the last decade, extensive new knowledge has been gained concerning the candidate cellular and molecular mechanisms that guide each step of the process from the sperm journey through the female reproductive tract to the gamete fusion and oocyte activation. In this review, we aim at summarizing the main molecular mechanisms of sperm and oocyte activation and fertilization from the moment sperm enters the female reproductive system up to zygote formation. Focusing on molecular determinants including but not limited to ligands, receptors, and signal transducers, we describe well established and novel molecular candidates that pave the way throughout this complex process and highlight the need for further investigation toward clinical application in assisted reproductive therapy.

Background and Clinical Significance: Prader–Willi syndrome (PWS) is an imprinting disorder not typically associated with severe congenital sensorineural hearing loss (SNHL). When profound SNHL is present in an infant with a known syndrome, an independent monogenic etiology should be considered. We report the first molecularly confirmed case of PWS co-occurring with biallelic pathogenic TMC1 variants causing congenital SNHL, outlining diagnostic challenges, cochlear implant (CI) outcomes, and implications for blended phenotypes. Case Presentation: A male infant with PWS due to a paternal 15q11.2–q13 deletion failed newborn hearing screening. Diagnostic auditory brainstem response and auditory steady-state response confirmed bilateral severe-to-profound SNHL. Temporal bone CT/MRI were normal. Comprehensive genetic testing identified compound heterozygous TMC1 variants consistent with autosomal recessive DFNB7/11 hearing loss, plus two variants of uncertain significance in SERPINB6 and EPS8L2. Sequential bilateral cochlear implantation was performed (left ear at 14 months, right at 20 months), followed by auditory–verbal therapy. Over four years, the child showed steady improvements in hearing and early-speech development. Conclusions: Early genomic evaluation is essential when clinical features appear atypical for a known syndrome. Identifying TMC1-related deafness enabled timely cochlear implantation and measurable gains. This case highlights that severe congenital SNHL in a syndromic infant may reflect a distinct monogenic disorder rather than phenotypic expansion of the primary syndrome, emphasizing the importance of recognizing blended phenotypes to guide precision-care strategies in rare disorders.

Background: Facial palsy constitutes a profoundly disabling condition, often leading to marked functional deficits and a decline in facial appearance, which substantially reduces the patient’s quality of life. A combined therapy of botulinum toxin (BoNTA), hyaluronic acid (HA) and calcium hydroxylapatite (CaHA) appears promising in the pharmacological approach of these patients. Methods: We reported our single center experience of patients with facial palsy, either of central or peripheral etiology who were treated with the combination of BoNTA, HA and CaHA, during a 6-month period (January 2025–June 2025). Results: Eight consecutive adult patients [mean age: 49.50 ± 7.95 years, 6 (75%) female] with facial palsy, either of central (4 patients) or peripheral (4 patients) etiology, received the combination of BoNTA, HA and CaHA. No serious adverse reactions were documented. Localized bruising and swelling at injection sites resolved without requiring any additional intervention. Facial Disability Index (FDI) was assessed both prior to and following treatment. The functional subscale increased from 65.63 ± 16.13 to 80.63 ± 10.50 (improvement rate = 24.4%, p-value = 0.002), while the psychosocial subscale increased from 63.00 ± 17.34 to 74.50 ± 10.89 (improvement rate = 18.3%, p-value = 0.004). Consequently, the total FDI score improved from 128.63 ± 28.92 to 155.13 ± 17.96 (overall improvement = 20.6%, p-value = 0.001). Conclusions: The present case series underscores the potential therapeutic role of CaHA as an adjunct to BoNTA and HA injections in patients with central or peripheral facial palsy.

The role of adjuvant fractionated radiotherapy (aFRT) after gross total resection (GTR) of WHO-2 meningiomas remains unclear. We aimed to estimate the effect of aFRT on recurrence risk and survival following GTR and subtotal resection (STR). We analyzed 1452 patients with WHO-2 from our international, multicenter database (followed between 1989 and 2019). Outcomes were recurrence (10-year follow-up) and death (5-year follow-up). Risk estimates were obtained using competing risks and survival analysis. Average treatment effects were estimated by G-computation, adjusted for potential confounding by age, sex, Simpson grade, Ki-67 proliferation index, location, country group (universal healthcare or not), and year of treatment initiation. The robustness of findings was examined through sensitivity analyses. Overall, 276 of 1452 patients (19.0%) received aFRT. Among GTR patients, unadjusted analysis showed comparable recurrence proportions between irradiated and non-irradiated patients (25.5% vs. 22.8% within 5 years). Adjusted analyses provided no evidence that aFRT reduced the risk of recurrence (largest difference: −2.7%, 95% CI −5.6 to 0.2); although, the CIs include the possibility of small beneficial effects. In STR patients, aFRT was associated with reduced recurrence risk in both unadjusted and adjusted analyses. Unexpectedly, a higher mortality was observed among irradiated GTR patients, largely driven by older patients with low Ki-67 PI receiving aFRT. Sensitivity analyses showed similar results for patients with STR but discrepancy in estimates for those with GTR. Adjuvant FRT showed a consistent reduction in recurrence risk after STR while inconsistent recurrence risk estimates were observed for patients with GTR. The findings reflect efficacy of aFRT using real-world data without standardized guidelines.