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Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period., Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022. These data were used as a proxy to estimate the prevalence rate of DEEs., Results: We included 1568 unique patients and found a mean incidence proportion of 2.6 patients for 100.000 inhabitants (SD=1.13) with consistent values across most Italian regions. The number of molecular diagnoses showed a continuing positive trend, resulting in more than a 10-fold increase between 2012 and 2022. The mean age at molecular diagnosis was 11.2 years (range 0-75). Pathogenic or likely pathogenic variants in genes with an autosomal dominant inheritance pattern occurred in 77% (n=1207) patients; 17% (n=271) in X-linked genes and 6% (n=90) in genes with autosomal recessive inheritance. The most frequently reported genes in the survey were SCN1A (16%), followed by KCNQ2 (5.6%) and SCN2A (5%)., Conclusion: Our study provides a large dataset of patients with monogenic DEE, from a European country. This is essential for informing decision-makers in drug development on the appropriateness of initiatives aimed at developing precision medicine therapies and is instrumental in implementing disease-specific registries and natural history studies., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published by BMJ Group.)

Purpose: Since the first Italian case of SARS-CoV-2 was detected in Lombardy (Northern Italy)  Italy quickly became one of the worst-affected European countries, with a severe impact on health-care workers (HCWs). In the first epidemic, HCWs accounted for 12% of all national COVID-19 cases. We evaluated the burden of COVID-19 among HCWs and other non-health-care workers (nHCWs) in a large Italian hospital., Methods: From March 1st to May 31st 2020, we performed a retrospective study at ASST Civil Hospital, in the Province of Brescia, Lombardy. The study population included all hospital personnel (n = 9265), categorized by professional status., Results: A SARS-CoV-2 test was performed in 3572 workers (38.5%), with a positive result in 552 (5.9% of all hospital personnel). The temporal trend of SARS-CoV-2 cases in hospital staff broadly reflected that in the community, with a great majority of infections occurred during March 2020 (87.7%). From April onward, a steep decrease of positive cases was observed among hospital personnel, while in the community the decrease was much slower. Medical doctors (8.9%) and nurses (8.5%) were the most affected professional categories with a significantly higher risk of SARS-CoV-2 infection (OR 1.436 and OR 1.410, respectively p < 0.0001). HCWs in COVID-19 units presented a significantly higher risk of infection compared to HCWs in non-COVID units (p < 0.001)., Conclusion: HCWs were severely affected by the COVID-19 epidemic, probably associated with an overwhelming burden of work and lack of preparedness in prevention of nosocomial transmission of the infection. The rapid decrease of COVID-19 spread in the hospital, registered before the one in the community, suggests that the adopted preventive measures were effective., (© 2021. The Author(s).)

Background: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. This complex neurodegenerative condition is caused by pathogenic variants in EPM2A/EPM2B genes, encoding two essential glycogen metabolism enzymes known as laforin and malin. Long-term follow-up data are lacking. We describe the clinical features and genetic findings of a cohort of 26 Italian patients with a long clinical follow-up., Methods: Patients with EPM2A/EPM2B pathogenic variants were identified by direct gene sequencing or gene panels with targeted re-sequencing. Disease progression, motor functions, and mental performance were assessed by a simplified disability scale. Spontaneous/action myoclonus severity was scored by the Magaudda Scale., Results: Age range was 12.2-46.2 years (mean:25.53 ± 9.14). Age at disease onset ranged from 10 to 22 years (mean:14.04 ± 2.62). The mean follow-up period was 11.48 ± 7.8 years. Twelve out of the 26 (46%) patients preserved walking ability and 13 (50%) maintained speech. A slower disease progression with preserved ambulation and speech after ≥4 years of follow-up was observed in 1 (11%) out of the 9 (35%) EPM2A patients and in 6 (35%) out of the 17 (65%) EPM2B patients. Follow-up was >10 years in 7 (41.2%) EPM2B individuals, including two harbouring the homozygous p.(D146N) pathogenic variant., Conclusions: This study supports an overall worse disease outcome with severe deterioration of ambulation and speech in patients carrying EPM2A mutations. However, the delayed onset of disabling symptoms observed in the EPM2B subjects harbouring the p.(D146N) pathogenic variant suggests that the underlying causative variant may still influence LD severity., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Background: Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 variants. This disorder presents with subtle and relatively non-specific symptoms, mimicking those observed in more common paediatric epilepsies and followed by rapid psychomotor deterioration and drug-resistant epilepsy. A prompt diagnosis is essential to adopt appropriate treatment and disease management strategies., Methods: This is a prospective, multicentre study on the efficiency of targeted re-sequencing in the early identification of the genetic causes of childhood epilepsy, with particular regard to CLN2. After phenotypic characterization, a 283-gene Next Generation Sequencing panel was performed in 21 Italian children with neurodevelopmental abnormalities, aged between 24 and 60 months, experiencing first unprovoked seizure after 2 years of age., Results: The average age at enrolment was 39.9 months, with a mean age at seizure onset of 30.9 months and a mean time interval between seizure onset and targeted resequencing of 9 months. Genetic confirmation was achieved in 4 out of 21 patients, with a diagnostic yield of 19%. In one case, the homozygous splice acceptor variant c.509-1G > C in TPP1 was identified, leading to a CLN2 diagnosis. Three pathogenic variants in MECP2 were also detected in three patients, including the frameshift variant c.1157&#95;1186delinsA (p.Leu386Hisfs*9) in a girl with negative single gene sequencing. Variants of unknown significance (VUS) were found in 11 out of 21 (52.4%) individuals, whereas no clinically significant variants were observed in the remaining 6 subjects., Conclusions: Our findings support the efficacy of target re-sequencing in the identification of the genetic causes of childhood epilepsy and suggest that this technique might prove successful in the early detection of CLN2 as well as other neurodevelopmental conditions.

The aim of this study was to investigate the effect of word stress location in neglect dyslexia. An assessment was made of stress assignment in reading Italian words in 13 patients with neglect dyslexia and 13 matched normal individuals. The correspondence in stress location between target and neglect errors was preserved in 9 patients. Moreover, the proportion of words with stress on the penultimate syllable was about 50% and that on the antepenultimate syllable was also about 50%. This pattern is significantly different from the distribution observed in the Italian lexicon, in which the majority of polysyllabic words are stressed on the penultimate syllable. This result cannot be expected from the application of a "regularization" strategy associated with the operation of a nonlexical reading pathway. Taken together, these findings lead to the conclusion that lexical stress is part of the lexical information preserved in neglect dyslexia., (((c) 2004 APA, all rights reserved))

Sarcoma of the breast are a rare group of neoplasms representing less than 5% of Soft Tissue Sarcomas (STS). Between 1980 and 1995 in the National Institute foe Cancer Research (IST) of Genoa, 2188 patients were submitted to surgery for breast cancer. Seven of them were found to be affected by sarcoma, confirmed by histologic diagnosis. All the patients were between 39 and 87 years-old. Surgical treatments were: wide excision (1 case), total mastectomy (2 cases), radical mastectomy following Halsted (4 cases). A case of a 53 year-old woman with a phyllodes tumor initially transforming in to liposarcoma is reported. The patient was submitted to surgery (total mastectomy) and nowadays is alive and free of disease after 29 months. All authors agree that the treatment for sarcoma of the breast is early and complete surgical excision of the mass. The role of chemotherapy and radiotherapy is still uncertain. Outcome is based on histologic type, degree of differentiation and tumor size.

From 1981 to 1990, 1003 stage I-II breast cancers underwent surgery at the Division of Surgical Oncology of National Institute for Cancer Research of Genoa. This study described the clinical and pathologic features of these breast cancers. Radical mastectomy was performed in 73.8% of cases and conservative surgery in 26.2% of cases. In the last years the number of conservative treatment has increased. Related to size of tumour, in 1991 80.4% of pT1 performed a conservative surgery. The choice of type of surgery for pT2 tumours depended on the choice of patient and the ratio breast size and tumour size. The five-year overall survival was 85.8% in the group of conservative surgery and 65.3% in the group of radical surgery. The overall survival and relapse free survival have been calculated by Kaplan-Meyer method. Actuarial survival curves were computed according to type of surgery, tumor size, nodal status, hormonal receptors. In our experience the size of tumour was an important prognostic factor. The five years, overall survival was 80.7% in pT1 tumours and 67% in pT2-pT3 tumours (p = 10(-6)). The five-year overall survival in negative nodes patients was 80.5%. Conversely in patients with more than ten nodal metastases was 29.5%. The data reported in the present study were no different as in previous studies.

The literature on carcinomas of the oral cavity shows general agreement that alcohol and smoking are risk factors. Only a few authors blame poor hygiene. The retrospective survey conducted in Genoa aimed to evaluate the relative importance of these risk factors, by means of a case-controlled study linking a specific risk factor to a specific condition. 98 histologically confirmed cases were hospitalised in 1979-80. A similar survey was conducted on a control group. Smoking and alcohol, often both together, were found to be the most significant aetiopathogenetic risk factors in the oncological pathology of the oral cavity.