Antonio Zanghì

Background: Large Language Models (LLMs) are increasingly utilized for patient-facing healthcare communication. However, their clinical utility remains constrained by communicative, ethical, and safety challenges. This systematic review provides a cross-specialty evaluation of conversational AI, synthesizing evidence on accuracy, readability, informational quality, and emotional resonance. Methods: Following PRISMA 2020 guidelines and PROSPERO registration (CRD420251021428), PubMed/MEDLINE, Scopus, and Web of Science were searched from 2020 through November 2025. Eligible studies evaluated LLM-generated medical or surgical information against healthcare professionals, validated benchmarks, or alternative AI platforms. Assessed outcomes included factual accuracy, standardized readability indices (e.g., FKGL, FRES), validated quality metrics (e.g., DISCERN, GQS), and emotional or empathetic impact. Results: Eighty-two studies (published 2023–2025) were included. Accuracy was evaluated in 45 studies, demonstrating generally high performance (mean Likert scores > 3.5/5); advanced GPT models frequently showed parity or superiority to comparators, though factual errors persisted in complex clinical reasoning. Readability, assessed in 69 studies, emerged as the primary limitation: baseline outputs consistently required high school or university-level comprehension (FKGL > 10–12), substantially exceeding recommended patient literacy thresholds (≤8th grade). Informational quality, appraised in 35 studies, was rated moderate-to-high across DISCERN and GQS metrics. Six studies evaluating emotional resonance indicated that LLMs can alleviate situational anxiety and deliver structured cognitive empathy comparable or superior to brief clinician text, though lacking genuine emotional depth. Conclusions: LLMs demonstrate strong factual accuracy and structural quality across diverse clinical disciplines. However, autonomous, patient-facing deployment remains premature due to excessive lexical density that threatens health equity. Conversational AI should function as a clinical adjunct to support providers rather than an unsupervised educational tool. Future research must prioritize dynamic literacy alignment and robust clinical validation.

A growing crisis of surgical vocation has emerged worldwide, characterized by declining interest in general surgery, increasing attrition during training, and persistent workforce shortages. Burnout has been identified as a central driver of this phenomenon, interacting with generational changes, training intensity, and gender disparities. This narrative review synthesizes current evidence on burnout in surgery and its relationship with workforce dynamics, generational expectations, and structural determinants, including surgical training pathways and gender-related barriers. Burnout affects approximately 40–70% of surgeons and trainees, with higher prevalence among younger physicians and women. Emotional exhaustion and depersonalization are the most prominent dimensions, driven by excessive workload, administrative burden, poor work–life integration, high training intensity and workplace culture. These factors negatively influence patient safety, team performance, and career sustainability. Generational shifts have redefined professional expectations, with greater emphasis on work–life balance and long-term sustainability. Persistent gender disparities further impact access to mentorship, career progression, and leadership opportunities, contributing to workforce instability. Italian data reflect similar trends, with underrepresentation in senior roles and ongoing challenges in training pathways. In the 2025 Italian national residency selection cycle, 247 of 662 General Surgery contracts remained unassigned, corresponding to an unassigned rate of 37.3%, highlighting the relevance of workforce instability in a publicly funded healthcare system. The crisis of surgical vocation is a multifactorial and systemic issue. Addressing burnout requires coordinated multilevel strategies, integrating individual, institutional, and policy-level interventions. Improving the quality and sustainability of surgical training, while promoting inclusive and supportive professional environments, is essential to ensure the future of the surgical workforce.

Background: Hereditary Diffuse Gastric Cancer (HDGC) is a rare but highly penetrant autosomal dominant cancer predisposition syndrome, most commonly associated with germline pathogenic variants in the CDH1 gene. Early diagnosis remains challenging due to the absence of specific clinical or endoscopic features in early disease stages. Methods: We present a case series describing a cluster of advanced diffuse gastric cancer (DGC) cases in a single Italian family. Clinical, genetic, and surgical data were collected and analyzed, including pedigree reconstruction, genetic testing, and risk-reducing interventions. Results: Two male siblings developed advanced signet ring cell gastric carcinoma at ages 41 and 44, both with rapid disease progression and fatal outcomes. Their family history revealed two sisters who had died from gastric cancer at a young age. Genetic counseling identified a CDH1 c.1792C>T pathogenic variant in affected family members. Two young, asymptomatic female carriers (aged 18 and 22) underwent prophylactic total gastrectomy in accordance with international guidelines. Subsequently, another male sibling died at the age of 30 due to gastric cancer. This familial cluster demonstrated high phenotypic penetrance and highlighted the impact of genetic testing on clinical management. In addition, we discuss the evolving landscape of risk stratification and the balance between prophylactic total gastrectomy and structured endoscopic surveillance. Conclusion: This case series underscores the clinical heterogeneity of HDGC and the critical role of timely genetic testing, family history assessment, and early prophylactic gastrectomy in high-risk carriers. A multidisciplinary approach integrating clinical genetics, surgery, and endoscopic expertise is essential to optimize risk-reducing strategies and outcomes in HDGC.

Introduction: Retained appendicoliths are an uncommon but clinically relevant complication of appendectomy, particularly in cases of perforated appendicitis. Migration of the appendicolith into the peritoneal cavity or liver may lead to persistent or recurrent abscess formation.Case description: We present the case of a 29-year-old male with recurrent hepatic abscesses following laparoscopic appendectomy. Initial CT and MRI imaging revealed calcified components within the liver consistent with a migrated appendicolith. Despite percutaneous drainage and antibiotic therapy, the patient experienced relapse. Definitive resolution was achieved through laparoscopic hepatic resection and removal of the retained appendicolith.Discussion: This case highlights the diagnostic challenges and potential complications associated with retained appendicoliths. Imaging plays a crucial role in identification and management. While conservative approaches may be attempted, surgical retrieval is often required to prevent recurrent infections.Conclusion: Retained appendicoliths should be considered in the differential diagnosis of hepatic abscesses following appendectomy. Timely diagnosis and complete removal are essential to avoid long-term morbidity.

Background: Hypoparathyroidism with hypocalcemia is the most frequent complication after thyroid surgery. Many risk factors have been involved in the development of this complication, with conflicting results. Incidental parathyroidectomy (IP) may be a frequent cause of postoperative hypocalcemia. In this study, we have evaluated the risk factors associated with the IP in a single-center cohort of patients undergoing thyroid surgery. Patients and methods: The incidence and the risk factors for IP were evaluated in 799 patients scheduled for surgical treatment for thyroid disease between January 2018 and December 2023. Parathyroid hormone levels and serum calcium levels, together with the histological specimens, were evaluated in all patients. Results: Post-operative temporary hypocalcemia was present in 239 (29.9%) patients. A total of 144 patients (21.9%) had an incidental parathyroidectomy. Younger patients (p = 0.014). Moreover, thyroid cancer (RR 1.4 (95 CI 1.114–1.882) OR 1.68 (95% CI 1.145–2.484), p < 0.05) and the neck dissection (RR 1.75 (95% CI 1.409–2.198) OR 2.38 (95% CI 1.644–3.460), p < 0.001) were strongly associated with the risk of incidental parathyroidectomy. Conclusions: Younger female patients with thyroid cancer and neck dissection were at the highest risk of incidental parathyroidectomy. A meticulous surgical dissection, together with imaging methods for the detection of the parathyroid glands, may reduce the incidence of this complication.

Paratesticular liposarcomas are extremely rare malignant tumors originating from fat tissues, with an often-challenging diagnosis. We present here the case of a 76-year-old man with a giant paratesticular liposarcoma, initially misdiagnosed as a scrotal hernia. After two years, the progressively enlarging mass underwent surgical resection, and a diagnosis of well-differentiated liposarcoma (lipoma-like subtype) was made. Post-operative treatments were not indicated, and the patient remains relapse free. Next generation sequencing performed on the neoplastic tissue showed co-amplification of MDM2 and CDK4. These alterations are molecular hallmarks of well-differentiated liposarcomas and corroborate the histological diagnosis. Clinical and molecular features of the presented case are in line with the majority of previously published experiences. In conclusion, the presence of a liposarcoma should be taken into account during the diagnostic workup of scrotal masses, in order to minimize the rate of misdiagnosis and improper management. Molecular analysis may support histological characterization of these rare entities and potentially disclose novel therapeutic targets.

The phenotypic variety associated to mutations in dynamin 1 (DNM1), codifying the presynaptic protein DNM1 has been increasingly reported, mainly related to encephalopathy with intractable epilepsy; currently, it is known the phenotype related to DNM1 gene mutations is relatively homogeneous with developmental delay, hypotonia, and epilepsy characterized by infantile spasms and possible progression to Lennox-Gastaut syndrome. By examining all the papers published until 2020 (18 articles), we compared data from 30 patients (extrapolated from 5 papers) with DNM1 mutations, identifying 26 patients with de novo mutations in DNM1. Nine patients (33.3%) reported the recurrent mutation p.Arg237Trp. A usual phenotype observed comprises severe to deep developmental delay and muscular hypotonia in all patients with epilepsy beginning with infantile spasms, which often evolved into Lennox-Gastaut syndrome. Data about GTPase or central domains mutations, and existing structural modeling and functional suggest a dominant negative effect on DMN1 function. Generally genetic epilepsies consist of a wide spectrum of clinical features, unlike that, DNM1-related CNS impairment phenotype is quite uniform. In up to one third of patients it has been found variant p.Arg237Trp, which is one of the most frequent variant detected in epileptic encephalopathies. The understanding of DNM1 function opens up the chance that this gene would become a new therapeutic target for epilepsies.

WD repeat domain 45 (WDR45) gene has been increasingly found in patients with developmental delay (DD) and epilepsy. Previously, WDR45 de novo mutations were reported in sporadic adult and pediatric patients presenting iron accumulation, while heterozygous mutations were associated with β-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation disorders, characterized by extrapyramidal movement disorders and abnormal accumulation of iron in the basal ganglia. Overall, people harboring WDR45 mutations have moderate to severe DD and different types of seizures. The phenotype of adult patients is characterized by extrapyramidal movement, dystonia, parkinsonism, language impairment, and involvement of the substantia nigra and in the globus pallidus at brain magnetic resonance imaging. Importantly, there are no findings of brain iron accumulation in brain in BPAN patients in the first decade of life, thus suggesting a progressive course of the disease. Comparatively, the main phenotype of pediatric patients is epilepsy with early onset, most of which present infantile spasms and arrest or regression of psychomotor development. The phenotype of patients with WDR45 mutations is variable, being different if caused by somatic mosaicism or germline mutations, and presenting with a different spectrum of manifestations in males and females. The treatment of affected individuals is symptomatic. Regarding the seizures, specific, gene-based approaches with specific antiepileptic drugs are not currently available. The early diagnosis of BPAN could be useful in some aspects, such as providing families a supportive treatment to their affected children.