Terminal or truncal ligation of the inferior thyroid artery during thyroidectomy? A prospective randomized trial

INTRODUCTION: Thyroidectomy is a common procedure in general and endocrine surgery. The technique of ligation of inferior thyroid artery (ITA) has been invoked as a possible cause of appearance of postoperative hypocalcemia. METHODS: We performed a prospective randomized study involving 184 patients undergoing total thyroidectomy to evaluate the differences of truncal ligation versus distal ligation of ITA in terms of postoperative hypocalcemia, vocal fold palsy, voice and swallowing impairment. The patients were divided into group A (trunk ligation of ITA) and group B (terminal branches ligation of ITA). RESULTS: We evaluated postoperative PTH and calcemia (immediate, 6 and 12 months after thyroidectomy), postoperative day of discontinuation of calcium and vitamin D supplementation, voice and swallowing complaints, evaluated by mean of two specific tests available in literature, day of hospital discharge. CONCLUSION: The only significant differences between the two groups were a higher immediate postoperative calcemia and a greater number of patients discharged without calcium and vitamin-D supplementation in the group B. In conclusion, no substantial differences were found between the two groups. The choice depends on the experience of the surgeon

Laparoscopic, three-port and SILS cholecystectomy: a retrospective study.

Introduction. The aim of this study was to compare the results of classic laparoscopic, three-port and SILS cholecystectomy. Materials and methods. We conducted a retrospective study of da- ta collected between January 2010 and December 2012 pertaining to 159 selected patients with symptomatic gallstones. 57 underwent lapa- roscopic cholecystectomy, 51 three-port cholecystectomy and 48 SILS cholecystectomy. We then compared the groups with respect to mean ope- rating time, intraoperative complications, postoperative pain, duration of hospitalization and final aesthetic result. Introduction The first laparoscopic cholecystectomy was carried out in 1987 in France by Philippe Mouret (1). The progressive evolution of the technique has led this procedure to be- come the gold standard in the treatment of symptoma- tic gallstones (2). As the technology improved, many sur- geons began to reduce the number and size of the ports with the aim of achieving ever lower invasiveness, con- sequently reducing trauma and postoperative pain and improving the cosmetic results. There was thus a pro- Results. The mean operating time was significantly higher in the SILS cholecystectomy group (93 minutes) than in the other two groups. There were no intraoperative complications. There were no significant differences in the duration of hospitalization among the three groups. Patients in the SILS cholecystectomy group reported significantly less pain 3, 6 and 12 hours after surgery. The aesthetic results at 1 and 6 months’ follow-up were also decidedly better. Conclusions. On the basis of this study, SILS cholecystectomy is a feasible, safe procedure. In any case, it should be used in selected patients only and carried out by a dedicated team with strong experience in laparoscopy. The main advantages of this technique are a reduction in post-operative pain and improved aesthetic result, at the price, howe- ver, of its greater technical difficulty and longer operating times. Future studies are in any case necessary to evaluate any other benefits of this method

CATANA protontherapy facility: The state of art of clinical and dosimetric experience

After nine years of activity, about 220 patients have been treated at the CATANA Eye Protontherapy facility. A 62MeV proton beam produced by a Superconducting Cyclotron is dedicated to radiotherapy of eye lesions, as uveal melanomas. Research and development work has been done to test different dosimetry devices to be used for reference and relative dosimetry, in order to achieve dose delivering accuracy. The follow-up results demonstrated the efficacy of proton beams and encouraged us in our activity in the fight against cancer

Clinical and Research Activities at the CATANA Facility of INFN-LNS: From the Conventional Hadrontherapy to the Laser-Driven Approach

The CATANA proton therapy center was the first Italian clinical facility making use of energetic (62 MeV) proton beams for the radioactive treatment of solid tumors. Since the date of the first patient treatment in 2002, 294 patients have been successful treated whose majority was affected by choroidal and iris melanomas. In this paper, we report on the current clinical and physical status of the CATANA facility describing the last dosimetric studies and reporting on the last patient follow-up results. The last part of the paper is dedicated to the description of the INFN-LNS ongoing activities on the realization of a beamline for the transport of laser-accelerated ion beams for future applications. The ELIMED (ELI-Beamlines MEDical and multidisciplinary applications) project is introduced and the main scientific aspects will be described

A 62 MeV proton beam for the treatment of ocular melanoma at Laboratori Nazionali del Sud-INFN (CATANIA)

At the Istituto Nazionale di Fisica Nucleare-Laboratori Nazionali del Sud (INFN-LNS) in Catania, Italy, the first Italian protontherapy facility, named Centro di AdroTerapia e Applicazioni Nucleari Avanzate (CATANA) has been built in collaboration with the University of Catania. It is based on the use of the 62-MeV proton beam delivered by the K=800 Superconducting Cyclotron installed and working at INFN-LNS since 1995. The facility is mainly devoted to the treatment of ocular diseases like uveal melanoma. A beam treatment line in air has been assembled together with a dedicated positioning patient system. The facility has been in operation since the beginning of 2002 and 66 patients have been successfully treated up to now. The main features of CATANA together with the clinical and dosimetric features will be extensively described; particularly, the proton beam line, that has been entirely built at LNS, with all its elements, the experimental transversal and depth dose distributions of the 62-MeV proton beam obtained for a final collimator of 25-mm diameter and the experimental depth dose distributions of a modulated proton beam obtained for the same final collimator. Finally, the clinical results over 1 yr of treatments, describing the features of the treated diseases will be reported

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons

Tauroursodeoxycholic acid in patients with amyotrophic lateral sclerosis

Background: Amyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative rare disease that affects motor neurons in the brain, brainstem, and spinal cord, resulting in progressive weakness and atrophy of voluntary skeletal muscles. Although much has been achieved in understanding the disease pathogenesis, treatment options are limited, and in Europe, riluzole is the only approved drug. Recently, some other drugs showed minor effects. Methods: The TUDCA-ALS trial is a phase III, multicenter, randomized, double-blind, placebo-controlled, parallel-group clinical trial. The study aims to enroll 320 patients in 25 centers across seven countries in Europe. Enrolled patients are randomized to one of two treatment arms: TUDCA or identical placebo by oral route. The study measures disease progression during the treatment period and compares it to natural progression during a no-treatment run-in phase. Clinical data and specific biomarkers are measured during the trial. The study is coordinated by a consortium composed of leading European ALS centers. Conclusion: This trial is aimed to determine whether TUDCA has a disease-modifying activity in ALS. Demonstration of TUDCA efficacy, combined with the validation of new biomarkers, could advance ALS patient care. Clinical trial registration: ClinicalTrials.gov, identifier: NCT03800524