PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol

PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germline mutations in the tumor suppressor PTEN gene located on 10q23.3. It is widely accepted that two of these disorders,Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome, are allelic conditions. BecausePTENmutations are not identifiable in every case of the PHTS phenotype, the inability to detect a mutation within thePTENgene does not invalidate the clinical diagnosis of Cowden syndrome, or Bannayan–Riley–Ruvalcaba syndrome, in patients who meet diagnostic criteria for these disorders. PTEN mutations are associated with an increased risk for developing breast, thyroid, endometrial, and sometimes renal cancers. Thus, cancer surveillance is the cornerstone of PHTS patient management. Although a consensus cancer surveillance protocol has not been formally instituted, all PTEN mutation carriers should adopt the cancer surveillance strategies proposed for patients with Cowden syndrome. In addition, because gastrointestinal and vascular complications can be more severe in Bannayan– Riley–Ruvalcaba syndrome than in Cowden syndrome, patients with Bannayan–Riley–Ruvalcaba syndrome should be monitored from this point of view too. In this study, we report on two cases with Bannayan–Riley–Ruvalcaba phenotype that showed two different PTEN mutations.Wealso propose practice recommendations for management of PHTS patient

Postoperative laryngeal symptoms in a general surgery setting. Clinical study.

INTRODUCTION: Vocal cord injuries (VI), postoperative hoarseness (PH), dysphonia (DN), dysphagia (DG) and sore throat (ST) are common complications after general anesthesia; there is actually a lack of consensus to support the proper timing for post-operative laryngoscopy that is reliable to support the diagnosis of laryngeal or vocal fold lesions after surgery and there are no valid studies about the entity of laryngeal trauma in oro-tracheal intubation. Aim of our study is to evaluate the statistical relation between anatomic, anesthesiological and surgical variables in the case of PH, DG or impaired voice register. MATERIALS AND METHODS: 50 patients (30 thyroidectomies, 8 videolaparoscopic cholecistectomies, 2 right emicolectomies, 2 left emicolectomies, 1 gastrectomy, 1 hemorrhoidectomy, 1 nefrectomy, 1 diagnostic videothoracoscopy, 1 superior right lung lobectomy, 1 appendicectomy, 1 incisional hernia repair, 1 low anterior rectal resection, 1 radical hysterectomy) underwent clinical evaluation and direct laryngoscopy before surgery, within 6 hours, after 72 hours and after 30 days, to evaluate motility and breathing space, phonatory motility, true and false vocal folds and arytenoids oedema. We evaluated also mean age (56.6 ± 3.6 years), male:female ratio (1:1.5), cigarette smoke (20%), atopic comorbidity (17/50 = 34%), Mallampati class (32% 1, 38% 2, 26% 3, 2% 4), mean duration of intubation (159 minutes, range 50 - 405 minutes), Cormack-Lehane score (34% 1, 22% 2, 22% 3, 2% 4), difficult intubation in 9 cases (18%). No complication during the laryngoscopy were registered. We investigated the statistic relationship between pre and intraoperative variables and laryngeal symptoms and lesions. RESULTS: In our experience, statistically significant relations were found in prevalence of vocal folds oedema in smokers (p < 0.005), self limiting DG and DN in younger patients (p < 0.005) and in thyroidectomy (p < 0.01), DG after thyroidectomy (p < 0.01). The short preoperative use of steroids and antihistaminic to prevent allergic reactions appears not related to reduction or prevention of DN, DG, PH and ST. No statistical relation in incidence of postoperative complications was found for the prolonged intubation, gastro-esophageal reflux, BURP manoeuvre (backward upward right sided pressure) and Mallampati and Cormack-Lehane class more than 2, maintenance with sevoflurane 2% and use of stilet. CONCLUSIONS: Direct laryngoscopy is essential for the detection of arytenoid lesions after orotracheal intubation for general anesthesia. In our opinion, a part of temporary post-operative DN or PH is due to monolateral or bilateral arytenoids oedema, secondary to prolonged or difficult orotracheal intubation, valuable with laryngoscopy 72 hours after surgery. Is necessary to adjunct these complications in the surgical informed consensus scheme

Giant subcutaneous lipomatosis in Myoclonic Epilepsy with Ragged Red Fibers syndrome: The first literature report of "laparoscopic" excision

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Simple and fast orotracheal intubation procedure in rat

Introduction: Endotracheal intubation in the rat is difficult because of extremely small size of anatomical structures (oral cavity, epiglottis and vocal cords), small inlet for an endotracheal tube and the lack of proper techniacal instruments. Matherial and Methods: In this study we used seventy rats weighthing 400-500 g. The equipment needed for intubation was an operating table, a longish of cotton, a cotton tip, orotracheal tube, neonatal laryngoscope KTR4, small animal ventilator, and isoflurane for inhalation anaesthesia. Premedication was carried out by medetomidine hydrochloride 1 mg/mL; then, thanks to a closed glass chamber, a mixture of oxygen and isoflurane was administered. By means of neonatal laryngoscope the orotracheal tube was advanced into the oral cavity untile the wire guide was visualized trough the vocal cords; then it was passed through them. The tube was introduced directly into into the larynx over the wire guide; successively, the guide was removed and the tube placed into the trachea. Breathing was confirmed using a glove, cut at the end of a finger, simulating a small ballon. Conclusions: We believe that our procedure is easier and faster than those previously reported in scientific literature. (www.actabiomedica.it

Esophageal motility changes after thyroidectomy; possible associations with postoperative voice and swallowing disorders: preliminary results.

Objective Swallowing and voice impairment are common after thyroidectomy. We evaluated short-term functional changes in esophageal motility in a series of patients who had undergone total thyroidectomy. Several studies have investigated these symptoms by means of interviews or questionnaires. Study Design Prospective study. Setting Academic research. Materials and Methods Thirty-six consenting patients were prospectively recruited. Eligibility criteria were thyroid volume ≤60 mL, benign disease, and age between 18 and 65 years. Exclusion criteria were previous neck surgery, severe thyroiditis, hyperthyroidism, and pre- or postoperative vocal cord palsy. Voice impairment score, swallowing impairment score, lower esophageal sphincter pressure, esophageal motility, upper esophageal pressure, and coordination were evaluated preoperatively and 30 to 45 days after surgery. Results Postoperative swallowing impairment (appearance or worsening of dysphagia) was found in 20% of patients and voice impairment in more than 30%. Both preoperative and postoperative esophageal motility were similar. All patients showed an average decrease of 25% in upper esophageal pressure, although the pressure was within normal range. Swallowing alterations were associated with upper esophageal incoordination (P &lt; .03), and proximal acid reflux was significantly associated with voice impairment (P &lt; .02). Conclusion After uncomplicated thyroidectomy, decreased upper esophageal pressure may explain both pharyngeal (dysphagia) and laryngeal (vocal impairment) exposure to acid. In the future, proton pump inhibitor therapy protocols should be evaluated

RECURRENT RENAL CARCINOMA MIMICKING A GOITRE: A CASE REPORT

Although the thyroid is a high vascularised gland, it is not common terget of metastases from extraglandular cancer. We reported a case of a 70 year-old woman who underwnt total thyroidectomy for multinodular goitre. In the patient's clinical hystory a nephrectomy was carried out 2 years before due to unspecified causes. The histopathological examination of the thyiroid showed a pattern compatible with clear cell renal carcinoma metastasis. The patient's relatives revealed, when questioned again, that the nephrectomy was due to the presence of a clear renal cell carcinoma keep concealed to the patients. Thanks to a timely intervention, the mass was removed and a better survival was guaranted to the patient

Evaluation of predictive factors for i-CLARAS (intraoperative complications in laparoscopic renal and adrenal surgery): a multicentre international retrospective cohort study

The laparoscopic approach represents the standard of treatment for renal and adrenal diseases, and its use is increasing even outside referral centres. Although most procedures are routinely performed, intraoperative complications do not occur, and the rate and predictive factors of these complications have not been established. The aim of this study was to evaluate the incidence and type of intraoperative complications and to identify predictive factors in patients undergoing laparoscopic renal and adrenal surgery. This was a cohort, multicentre, international retrospective study. Patients who underwent laparoscopic renal and adrenal surgeries between April 2017 and March 2022 were included in the study. Bivariate analysis was performed using contingency tables and the χ2 test for independent samples to compare qualitative variables and the T test and Mood test for continuous variables. Multivariate analysis was performed using a logistic regression model to obtain adjusted odds ratios. A total of 2374 patients were included in the study. Intraoperative complications were reported for 8.09% of patients who underwent renal surgery, with the most common complications reported being hollow viscus and vascular complications, and for 6.75% of patients who underwent adrenal surgery, with the most common complication reported being parenchymatous viscous complications. Multivariate analysis revealed that both adrenal and renal surgery radiological preoperative factors, such as invasive features during adrenalectomy and the RENAL score during nephrectomy, are predictive factors of intraoperative complications. In contrast to existing data, surgeon experience was not associated with a reduction in the incidence of perioperative complications

Broncalt®, class ii medical device, in patients with chronic relapsed upper airways disease: A survey in clinical practice

Chronic respiratory otorhinolaryngological (ORL) diseases may exacerbate. Broncalt® is a class II Medical Device containing: thermal water (Medesano, PR, Italy), hyaluronic acid, and grapefruit seed extract. It could exert a safe and effective anti-inflammatory, washing, and antimicrobial activity. The current survey, conducted in clinical practice of 84 Italian ORL centers, evaluated its safety and efficacy in the treatment of patients with exacerbated chronic upper airways disease. The 459 (254 males, mean age 44.7 years) patients were evaluated at baseline (T0) and after a 2-week treatment (T1), treated or not-treated with Broncalt®. Signs and symptoms severity were measured by visual analogue scale. Broncalt® significantly, quickly, and safely diminished the clinical features in all sub-groups (p&lt;0.001 for all). In conclusion, Broncalt® is a class II Medical Device able to exert a safe, quick, and effective activity in patients with relapsed chronic ORL disorders. (www.actabiomedica.it)

Broncalt®, class II medical device, in patients with acute upper airways disease: A survey in clinical practice

Inflammation is a common pathogenic mechanism involved in many otorhinolaryngological (ORL) disorders. Broncalt® is a class II Medical Device containing: Thermal water (Medesano, PR, Italy), hyaluronic acid, and grapefruit seed extract. It has been reported that it exerted a safe and effective anti-inflammatory, washing, and antimicrobial activity by virtue of these components. Therefore, the aim of the current survey, conducted in clinical practice of 84 Italian ORL centers, was to evaluate its safety and efficacy in the treatment of patients with acute upper airways disease. The 3,533 (1,797 males, mean age 43.5 years) patients were evaluated at baseline (T0) and after a 2-week treatment (T1) with or without Broncalt®. Signs and symptoms severity were measured by visual analogue scale. Broncalt® significantly and safely diminished the clinical features in all sub-groups (p&lt;0.001 for all). Interestingly, Broncalt® significantly induced a faster symptom relief already within 3 days after the start of the treatment. In conclusion, Broncalt® is a class II Medical Device able to exert a safe and effective activity in patients with acute ORL disorders. (www.actabiomedica.it)

The Comet Interceptor Mission

Here we describe the novel, multi-point Comet Interceptor mission. It is dedicated to the exploration of a little-processed long-period comet, possibly entering the inner Solar System for the first time, or to encounter an interstellar object originating at another star. The objectives of the mission are to address the following questions: What are the surface composition, shape, morphology, and structure of the target object? What is the composition of the gas and dust in the coma, its connection to the nucleus, and the nature of its interaction with the solar wind? The mission was proposed to the European Space Agency in 2018, and formally adopted by the agency in June 2022, for launch in 2029 together with the Ariel mission. Comet Interceptor will take advantage of the opportunity presented by ESA’s F-Class call for fast, flexible, low-cost missions to which it was proposed. The call required a launch to a halo orbit around the Sun-Earth L2 point. The mission can take advantage of this placement to wait for the discovery of a suitable comet reachable with its minimum ΔV capability of 600 ms−1. Comet Interceptor will be unique in encountering and studying, at a nominal closest approach distance of 1000 km, a comet that represents a near-pristine sample of material from the formation of the Solar System. It will also add a capability that no previous cometary mission has had, which is to deploy two sub-probes – B1, provided by the Japanese space agency, JAXA, and B2 – that will follow different trajectories through the coma. While the main probe passes at a nominal 1000 km distance, probes B1 and B2 will follow different chords through the coma at distances of 850 km and 400 km, respectively. The result will be unique, simultaneous, spatially resolved information of the 3-dimensional properties of the target comet and its interaction with the space environment. We present the mission’s science background leading to these objectives, as well as an overview of the scientific instruments, mission design, and schedule