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 germ-line 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. Because PTEN mutations are not identifiable in every case of the PHTS phenotype, the inability to detect a mutation within the PTEN gene 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. We also propose practice recommendations for management of PHTS patients.

Papillary Thyroid Microcarcinoma: Active Surveillance Against Surgery. Considerations of an Italian Working Group From a Systematic Review.

Introduction: Active surveillance is considered a viable option for papillary thyroid microcarcinoma. Since the last decade of the 20th century, this method has spread from Japan to other countries, but has not yet been fully accepted and validated by the major Western Scientific Societies. In 2016, a systematic review on the results of active surveillance was published, based on two articles that showed encouraging results. Other reviews published subsequently, were mainly based on articles from the Far East. The aim of this review is to assess the most recent results published from 2017 to 2020 on this subject. Materials and Methods: A systematic literature search was performed on MEDLINE via PUBMED, Web of Science, and Scopus according to PRISMA criteria. The MESH terms "papillary thyroid microcarcinoma" and "active surveillance" were adopted. Tumor progression, secondary localizations, and quality of life were the main benchmarks. Results: Nine studies met the inclusion criteria. The increase in volume ranged from 2.7% and 23.2%; the occurrence of lymph node metastases from 1.3% to 29%; QoL was improved in both articles that addressed this topic. The level of evidence is considered low due to the retrospective and uncontrolled nature of most of the studies included in the review. Conclusion: The evidence from the literature currently available on AS falls into two strands: a robust data set from the Japanese experience, and an initial experience from Western countries, whose data are still limited but which show a lack of substantial alerts against this practice. Further data is useful to validate the spread of Active Surveillance.

Local neck symptoms before and after thyroidectomy: a possible correlation with reflux laryngopharyngitis.

Local symptoms in the neck such as swallowing and voice disorders, and throat discomfort might be related to a goiter if present, but are also reported by patients suffering from reflux laryngopharyngitis. The aim of our study was to investigate the presence of reflux laryngopharyngitis in patients with nodular goiter before and after uncomplicated total thyroidectomy (TT) using a prospective study in University Hospital setting. We considered 25 patients, affected by non-toxic nodular goiter and candidates for TT, who complained of local symptoms in the neck. All the patients were carefully interviewed, with emphasis on swallowing and voice disorders, throat discomfort and reflux-related symptoms and underwent a videolaryngoscopy (VLS) and a videofluoroscopic swallowing study (VFSS) before and 3 months after TT. Before thyroidectomy, reflux laryngopharyngitis-related alterations were present in 68 and 50% at VLS and VFSS, respectively. After thyroidectomy, the swallowing and voice disorders persisted in 79 and 75%, respectively, while throat discomfort persisted in 91%. The results show that patients with a non-toxic nodular goiter who complain of local neck symptoms, before surgery it is appropriate to see if a reflux laryngopharyngitis is present; VLS and VFSS could be indicated for this and if necessary an antireflux treatment should be administered.

Computerised tomography and magnetic resonance imaging of laryngeal squamous cell carcinoma: A practical approach.

Squamous cell carcinoma is the most common head and neck cancer. This review describes the state-of-the-art computerised tomography and magnetic resonance imaging protocols of the neck and the normal larynx anatomy, and provides a practical approach for the diagnosis and staging of laryngeal squamous cell carcinoma.

Swallowing disorders after thyroidectomy: What we know and where we are. A systematic review.

INTRODUCTION: Dysphagia and hoarseness are possible complications that can be observed in patients undergoing thyroidectomy or other neck surgery procedures. These complaints are usually related to superior and inferior laryngeal nerves dysfunction, but these can appear even after uncomplicated surgical procedure. METHODS: We reviewed the current literature available on MEDLINE database, concerning the swallowing disorders appearing after the thyroidectomy. The articles included in the review reported pathophysiology and diagnostic concerns. RESULTS: Twenty articles were selected for inclusion in the review. Depends on the possible causes of the difficulty swallowing (related to nerve damage or appearing after uncomplicated thyroidectomy), different types of diagnostic procedures could be used to study patient discomfort, as well as intraoperative nerve monitoring, fiber optic laryngoscopy, endoscopy, pH monitoring, esophageal manometry and videofluorography. Among all these procedures, videofluorography is considered the gold standard to evaluate the entire swallowing process, since that allows a real-time study of all the three phases of swallowing: oral phase, pharyngeal phase and esophageal phase. CONCLUSION: The diagnostic procedures described can help to identify the mechanisms involved in swallowing disorders, with the aim to choose the best therapeutic option. More studies are needed for understanding the causes of the dysphagia appearing after thyroidectomy.

The Videofluorographic Swallowing Study in Rheumatologic Diseases: A Comprehensive Review.

Autoimmune connective tissue diseases are a heterogeneous group of pathologies that affect about 10% of world population with chronic evolution in 20%-80%. Inflammation in autoimmune diseases may lead to serious damage to other organs including the gastrointestinal tract. Gastrointestinal tract involvement in these patients may also due to both a direct action of antibodies against organs and pharmacological therapies. Dysphagia is one of the most important symptom, and it is caused by failure of the swallowing function and may lead to aspiration pneumonia, malnutrition, dehydration, weight loss, and airway obstruction. The videofluorographic swallowing study is a key diagnostic tool in the detection of swallowing disorders, allowing to make an early diagnosis and to reduce the risk of gastrointestinal and pulmonary complications. This technique helps to identify both functional and structural anomalies of the anatomic chain involved in swallowing function. The aim of this review is to systematically analyze the basis of the pathological involvement of the swallowing function for each rheumatological disease and to show the main features of the videofluorographic study that may be encountered in these patients.

Simple and fast orotracheal intubation procedure in rats.

INTRODUCTION: Endotracheal intubation in the rat is difficult because of the extremely small size of anatomical structures (oral cavity, epiglottis and vocal cords), small inlet for an endotracheal tube and the lack of proper technical instruments. MATERIAL AND METHODS: In this study we used seventy rats weighting 400-500 g. The equipment needed for the intubation was an operating table, a longish of cotton, a cotton tip, orotracheal tube, neonatal laryngoscope blades, 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 a neonatal laryngoscope the orotracheal tube was advanced into the oral cavity until the wire guide was visualized trough the vocal cords; then it was passed through them. The tube was introduced directly 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 balloon. RESULTS: We achieved a fast and simple orotracheal intubation in all animals employed. CONCLUSIONS: We believe that our procedure is easier and faster than those previously reported in scientific literature.

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.

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 < .03), and proximal acid reflux was significantly associated with voice impairment (P < .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.