MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma.

Pheochromocytomas and paragangliomas are rare neuroendocrine tumours. Around 20-25 % of patients develop metastases, for which there is an urgent need of prognostic markers and therapeutic stratification strategies. The presence of a MAML3-fusion is associated with increased metastatic risk, but neither the processes underlying disease progression, nor targetable vulnerabilities have been addressed.

Whole Exome Sequencing in Vaccine-Induced Thrombotic Thrombocytopenia (VITT).

In February 2021, a few cases of unusual, severe thrombotic events associated with thrombocytopenia reported after vaccination with ChAdOx1 nCoV-19 (Vaxzevria) or with Johnson & Johnson's Janssen vaccine raise concern about safety. The vaccine-induced thrombotic thrombocytopenia (VITT) has been related to the presence of platelet-activating antibodies directed against platelet Factor 4. We investigated VITT subject genetic background by a high-throughput whole exome sequencing (WES) approach in order to investigate VITT genetic predisposition.

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.

Relevance of germline (GL) predisposition in myelodysplastic syndromes (MDSs) was stressed in both 2022 WHO and International Consensus classifications, but its incidence is probably underestimated, especially in young adult patients. We selected a cohort of 31 consecutive de novo MDS patients with unusual young age (<60 years). We performed exome sequencing (ES) on DNA extracted from noninvasive sources (peripheral blood and saliva), filtering for a panel of 344 genes specifically tailored for detecting GL variants related to clonal and nonclonal cytopenia.

Quality of life and nutritional status of a group of post-operative head and neck cancer patients.

Introduction: scientific evidence on the appropriate nutritional support in the treatment of post-operative head and neck cancer (HNC) patients is still limited. Objectives: our aim was to evaluate nutritional status and quality of life in HNC patients in post-operative phase with different nutritional support. Methods: fifty-four HNC patients (26 with enteral nutrition [EN] via percutaneous endoscopic gastrostomy [PEG] and 28 with oral nutrition [ON]) were included.

Clinical Outcomes of Cryo Nerve Ablation Technique for Pain Management: An Exploratory Study in Patients Undergoing Left Thoracotomy Coronary Artery Bypass Grafting.

Background: To investigate the impact of Cryo Nerve Block with cryoICE™ device utilization, on post-operative pain in patients undergoing isolated coronary artery bypass grafting (CABG) through left thoracotomy.

Methods: All consecutive patients undergoing isolated CABG through left thoracotomy between July 2021 and July 2022 from a single surgeon were included in the study. Patients using the cryoICE™ device for nerve block were compared for baseline demographics and pre-operative characteristics with those that did not use the cryoICE™ device.

Endoscopy-assisted transoral approach for parapharyngeal space tumors: Our experience and a systematic review of the literature.

Background: Several approaches have been described for the excision of parapharyngeal space tumors (PPSTs). Advances in endoscopy gave a further stimulus to the use of the transoral route.

Aims: We present our experience with the endoscopy-assisted transoral approach (EATA) in this regard and a review of the most recent literature about EATA for PPSTs excision.

Prevalence of transthyretin-related amyloidosis in Tuscany: Data from the regional population-based registry.

The limited available data regarding the prevalence of transthyretin amyloidosis, both for wild-type (ATTRwt) and hereditary form (ATTRv), is inferred from highly selected patients and subsequent extrapolations that limit the comprehension of the clinical disease impact. The Tuscan healthcare system in 2006 developed a web-based rare disease registry, to monitor and profile patients affected by rare diseases. Clinicians belonging to regional validated healthcare data centres can register patients at the diagnosis, with a rigorous approach and distinguishing the types of amyloidosis, i.

Gingival recessions caused by Herpes Simplex Virus in a patient with COVID-19 infection.

Herpes Simplex Virus type 1 (HSV-1) is a very common infection often localized in the mucocutaneous junction of the lip. Rarely, it could be detected also in periodontal tissues, associated with an elevated risk of periodontal disease progression and gingival recessions. Recently, HSV-1 and numerous co-infections have been reported in literature associated with the Coronavirus and subsequent COVID-19 disease.

Somatic points for cough and urge to cough in chronic coughers.

In patients with chronic cough and age-matched control subjects, we attempted to evoke coughing and/or an urge to cough (UTC) by finger pressure along the sternocleidomastoid and sternum, on the lower cervical or first dorsal vertebrae, the jugular notch as well as with maximum neck extension and flexion These mechanical actions were ineffective in controls but reproducibly evoked coughing or UTC in about 50% of chronic coughers; sternal and spinal responses were abolished temporarily by local cooling. The results may disclose a novel paradigm of cough sensitisation possibly involving central convergence of somatic and visceral neural stimuli.

Sex-Related Differences in Genetic Cardiomyopathies.

Cardiomyopathies are a heterogeneous collection of diseases that have in common primary functional and structural abnormalities of the heart muscle, often genetically determined. The most effective categorization of cardiomyopathies is based on the presenting phenotype, with hypertrophic, dilated, arrhythmogenic, and restrictive cardiomyopathy as the prototypes. Sex modulates the prevalence, morpho-functional manifestations and clinical course of cardiomyopathies.

Dynamics and physiological meaning of complexes between ion channels and integrin receptors: the case of Kv11.1.

The cellular functions are regulated by a complex interplay of diffuse and local signals. Studying the latter is challenging, but experimental work in cell physiology has led to recognize that understanding a cell's dynamics requires a deep comprehension of local fluctuations of cytosolic regulators. Macromolecular complexes are major determinants of local signaling.

External validation of the VENUSS prognostic model to predict recurrence after surgery in non-metastatic papillary renal cell carcinoma: A multi-institutional analysis.

Objective: Recently, VENUSS (VEnous extension, NUclear Grade, Size, Stage), as a prognostic model, was defined to predict disease recurrence (DR) after curative surgery of non-metastatic papillary renal cell carcinoma (papRCC). This study aimed to validate the VENUSS prognostic model in a large multi-institutional European cohort of patients with histopathologically proven papRCC after curative surgery for non-metastatic disease.

Patients And Methods: Overall, 980 patients undergoing partial or radical nephrectomy for sporadic, unilateral and non-metastatic papRCC between 1987 and 2020 were included from 7 European tertiary institutions.

Robot-assisted surgery in space: pros and cons. A review from the surgeon's point of view.

The target of human flight in space has changed from permanence on the International Space Station to missions beyond low earth orbit and the Lunar Gateway for deep space exploration and Missions to Mars. Several conditions affecting space missions had to be considered: for example the effect of weightlessness and radiations on the human body, behavioral health decrements or communication latency, and consumable resupply. Telemedicine and telerobotic applications, robot-assisted surgery with some hints on experimental surgical procedures carried out in previous missions, had to be considered as well.

Interdisciplinary orthodontic-periodontal treatment of unerupted permanent maxillary incisors following traumatic injury to deciduous teeth. Case report with long-term follow-up (11 years).

Orthodontic and periodontal treatment of the permanent maxillary teeth, which were retained due to trauma on the deciduous dentition, showed a perfect alignment of the teeth associated with healthy and stable periodontal tissues during an 11-year follow-up.

Heterogeneous magnitude of immunological memory to SARS-CoV-2 in recovered individuals.

Objective: Although the adaptive immune response to SARS-CoV-2 has been characterised in the acute and early convalescent phase of the disease, few studies explore whether natural infection elicits long-lasting immunological memory in recovered individuals. In this work, we aimed to assess the maintenance of immunological memory to SARS-CoV-2.

Methods: We evaluated the long-term virus-specific cellular and humoral immune response in the members of an Italian Serie A football team, who experienced a cluster of COVID-19 in March 2020, which was strictly evaluated in the following months.

Regenerative Endodontic Therapy using a New Antibacterial Root Canal Cleanser in necrotic immature permanent teeth: Report of two cases treated in a single appointment.

A case of regenerative endodontics: (a) before treatment; (b) post-treatment Xray; (c) follow-up at 6 months; (d) follow-up at 12 months.

Brain abscess and periodontal pathogens (). Report of a case.

Patients who develop brain abscesses must be evaluated through a complete set of diagnostic tests including a microbiological and clinical periodontal assessment. A genetic comparison of the pathogens from intracranial/extracranial sites is necessary.

Description of the Follicular Fluid Cytokine and Hormone Profiles in Human Physiological Natural Cycles.

Purpose: Exogenous gonadotrophins administration during in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) cycles could significantly alter the endogenous follicular regulation system and could influence oocyte quality. The analysis of the follicular fluid (FF) cytokine and hormone profiles in physiological natural cycles is crucial to appreciate the role of FF milieu on follicle development. So far, the FF cytokine profile has been analyzed only in controlled ovarian stimulation cycles and in modified natural cycles.

Use of hydroxychloroquine in hospitalised COVID-19 patients is associated with reduced mortality: Findings from the observational multicentre Italian CORIST study.

Background: Hydroxychloroquine (HCQ) was proposed as potential treatment for COVID-19.

Objective: We set-up a multicenter Italian collaboration to investigate the relationship between HCQ therapy and COVID-19 in-hospital mortality.

Methods: In a retrospective observational study, 3,451 unselected patients hospitalized in 33 clinical centers in Italy, from February 19, 2020 to May 23, 2020, with laboratory-confirmed SARS-CoV-2 infection, were analyzed.