Appendiceal collision tumors: case reports, management and literature review.

Appendiceal tumors are incidentally detected in 0.5% cases of appendectomy for acute appendicitis and occur in approximately 1% of all appendectomies. Here, we report two cases of appendiceal collision tumors in two asymptomatic women. In both cases, imaging revealed right-lower-quadrant abdominal masses, which were laparoscopically resected. In both cases, histological examinations revealed an appendiceal collision tumor comprising a low-grade appendiceal mucinous neoplasm and well-differentiated neuroendocrine neoplasm (NEN). For complete oncological control, right hemicolectomy was performed in one patient for the aggressive behavior of NEN; however, histology revealed no metastasis. The other patient only underwent appendectomy. No further treatment was recommended. According to the latest guidelines, exact pathology needs to be defined. Proper management indicated by a multidisciplinary team is fundamental.

Robotic resection of a single adenoid cystic tumor liver metastasis using ICG fluorescence. A case report and literature review.

Adenoid cystic carcinoma (AdCC) is a rare tumor that typically develops in the salivary glands and less frequently in other sites of the head and neck region. Only a few cases of resected metachronous liver metastases have been reported. Minimally invasive surgery is currently the gold standard of care for liver resections; furthermore, the use of Indocyanine Green (ICG) is continuously increasing in surgical practice, especially in cases of primary liver tumors and colorectal liver metastases, due to its capacity to enhance liver nodules. We report the case of a 54-year-old male with a single liver metastasis of AdCC, located in SIII, who presented in our center 9 months after resection of a primary tumor of the laryngotracheal junction and adjuvant proton therapy. A 25-mg injection of ICG (0.3 mg/kg) was administered 48 h before surgery in order to highlight the tumor and perform an ICG-guided resection. The lesion was clearly visible during surgery, and, given its position and the proximity to the main lobar vessels of the left lobe, we opted for a left lateral sectionectomy. The outcome was unremarkable, with no major postoperative complications. The administration of ICG 48 h before surgery seems to be a valid tool even in cases of AdCC liver metastases, providing surgeons with better visualization of the lesion and improving the precision of the resection.

The role of robotic surgery for the treatment of hilar cholangiocarcinoma: A systematic review.

Background: The role of robotic surgery (RS) for hilar cholangiocarcinoma (HC) is under investigation. Surgical resection is the only curative modality of treatment but extremely complex and high risk of morbidity and mortality may occur. The aim of this study is to perform a systematic review of perioperative and oncological outcomes of RS for HC, across a comprehensive range of outcomes reported in recent literature. Materials and Methods: PRISMA checklist was used as a basis for writing the systematic review and studies' selection. Literature documenting RS for HC was analyzed by searching PubMed and Cochrane Library from 2009 to May 2022. The search terms, either independently or in combination, were used according to PICOT framework. The target population are patients treated with robotic surgical approach for HC. Results: 12 studies with 109 patients were included after screening process. The Bismuth classification in all series except one was: 21 type I, 7 type II, 12 type IIIa, 26 type IIIb and 4 type IV. Mean operative time for a total of 21 patients was 644 minutes. Other two case series reported a median operative time of 375 with a console time of 276 minutes. Mean blood loss for case reports and two case series was 662 milliliters. Blood transfusion rate for all operation was 33.3%. Overall Conversion rate was 2.8%. Pooled post operative morbidity and mortality was 39.8% and 1.8% respectively. Mean LOS for case reports and one case series for a total of 17 patients was 16 days. R0 resection rate for the 11 papers was 74.3%. Seven out of 12 studies reported on the oncological follow up: median observation time ranged from 5 to 60 months, recurrence rate was 52.6% (range 0-90%) reported only in 19 patients (10/19). Conclusions: RS for HC was feasible and safe. However, although this systematic review could not be conclusive in most of the analyzed items, RS for the treatment of HC could represent the best tool for a future meticulous and precision surgery. The review's results certainly indicate that further research in urgently is required on this field.

Effect of unilateral adrenalectomy on the quality of life of patients with lateralized primary aldosteronism.

BACKGROUND: Primary aldosteronism (PA) is associated with an increased prevalence of anxiety and depression. Subnormal quality of life (QoL) scores in PA patients may be improved after surgical treatment. The aim of the study was to assess the impact of surgery on health-related QoL and depression status of patients suffering from PA, comparing the results with a control group of patients undergoing surgery for non-secreting adrenal tumors. METHODS: Data on QoL and depression status were prospectively collected, from January 2014 to January 2017, before, early after surgery (at 1 month) and at late follow up (at least 6 months) in patients with unilateral PA and in a control group with non-secreting adrenal tumors submitted to unilateral laparoscopic adrenalectomy. QoL was assessed using the Short Form 36 (SF-36) Health Survey for Physical (PCS) and Mental Component (MCS); the depression status by a 20-item depression scale (DS) questionnaire. RESULTS: Twenty-six PA patients and 15 controls were recruited. Biochemical cure of the disease was achieved following surgery in all PA patients; hypertension was cured in 31% of cases and improved in the remaining 69% of cases. No morbidity occurred in both groups. There were no significant differences between PA patients and controls concerning demographics, preoperative PCS, MCS and DS values. In patients with PA, MCS values improved at early (42.72 ± 13.68 vs 51.56 ± 9.03, p = 0.0005) and late follow up (42.72 ± 13.68 vs 51.81 ± 7.04, p < 0.0001); also DS values improved at early (15.92 ± 11.98 vs 8.3 ± 8.8, p = 0.0002) and late follow up (15.92 ± 11.98 vs 4.57 ± 6.11, p < 0.0001). In PA patients PCS values significantly improved at late follow up (51.02 ± 8.04 vs 55.85 ± 5.1, p = 0.013). Also in controls an improvement of MCS and DS scores was found at early and late follow up compared to preoperative values, while no significant differences in PCS were found. CONCLUSIONS: Both PA and non-secreting adrenal tumors affect health-related QoL, worsening MCS and DS scores. Adrenalectomy is effective in curing PA, and improving MCS and DS scores at early and late follow-up, in patients with PA and non-secreting adrenal tumors. In PA patient surgery also significantly improves PCS at late follow up.

Adrenal ganglioneuroma: The Padua Endocrine Surgery Unit experience.

BACKGROUND: Adrenal ganglioneuroma (AGN) is a rare tumor that originates from the gangliar cells of the sympathetic nervous system. It represents less than 5% of all adrenal masses. AGN occurs as a large mass, with benign behavior and no relevant symptoms and hormonal secretion, but it is often misdiagnosed because the preoperative radiological diagnosis is generally challenging. The aim of the present paper is to report the experience of a tertiary referral academic center regarding the management of AGN and review the relevant literature. METHODS: The demographic, diagnostic, surgical, and pathological findings of 666 consecutive patients who were adrenalectomized at the Padua Endocrine Surgery Unit between 1990 and 2015 were retrospectively reviewed in order to focus on AGN. RESULTS: The pathology confirmed AGN in 10 patients (1.5% of cases; median age 35 years, range 19-73). The diagnosis was incidental and never available before surgery. Eight patients were asymptomatic, two presented lower back and abdominal pain. The mass was non-secreting in all cases. Preoperative imaging techniques were inconclusive about the nature of the mass in all cases. The median size of the tumor was 55 mm (range 30-80). The laparoscopic approach was performed in 60% of cases. No recurrences occurred after surgery at a median follow-up of 10 years (range 1.7-18.2). CONCLUSION: The diagnosis of AGN may be challenging and most often occurs after surgery, since it is frequently confirmed by histological examination. Radical excision may be achieved by laparoscopic adrenalectomy, with a subsequent definitive cure and excellent prognosis at long term follow up.

Surgical approaches in hereditary endocrine tumors.

Endocrine tumors of thyroid, adrenal and parathyroid glands may be due to germline and inheritable mutations in 5-30% of patients. Medullary Thyroid Carcinoma, Pheochromocytoma, Paraganglioma, and Familial Primary Hyperparathyroidism are the most frequent entity. Hereditary endocrine tumors usually have a suggestive familial history; they occur earlier than sporadic variants, are multifocal, and have increased recurrence rates. They may be present as isolated variant or associated to other neoplasms in a syndromic setting. Genetic diagnosis should be preferably available before surgery because specific and targeted operative management are needed to achieve the best chance of cure. This review was aimed to discuss the surgical approaches for some of the most frequent hereditary endocrine tumors of thyroid, adrenal and parathyroid glands, focusing on medullary thyroid carcinoma, Pheochromocytoma, Paraganglioma and hereditary primary hyperparathyroidism (pHPT). Hereditary Medullary Thyroid Carcinoma is caused by RET mutations, and may be associated to Pheochromocytomas in MEN 2 setting. Total thyroidectomy and at least central neck nodal dissection is required. The availability of genetic screening allows prophylactic or early surgery in asymptomatic patients, with subsequent definitive cure. Hereditary Pheochromocytomas may be present in several syndromes (MEN 2, VHL, NF1, Paraganglioma/Pheochromocytoma syndrome); it may involve both adrenals; in these cases, a cortical sparing adrenalectomy should be performed to avoid permanent hypocorticosurrenalism. Hereditary Primary Hyperparathyroidism may frequently occur associated to MEN 1, MEN 2A, MEN 4, Hyperparathyroidism-Jaw Tumor Syndrome; it may involve all the parathyroid glands, requiring subtotal parathyroidectomy or total parathyroidectomy plus autotransplantation. In some cases, a selective parathyroidectomy might be performed.

Neck ultrasonography for detection of non-recurrent laryngeal nerve.

BACKGROUND: Non-recurrent laryngeal nerve (NRLN) is a rare anatomical variant (0.3-6%) that is associated with some arterial abnormalities (absence of the brachiocephalic trunk and presence of a right aberrant subclavian lusorian artery). The availability of a preoperative diagnosis of NRLN may reduce the risk of nerve injuries. Preoperative ultrasonography (US) has been suggested as a reliable diagnostic tool to detect the arterial abnormalities associated with NRLN, but the literature is relatively scarce. This paper was aimed to review the literature, in order to offer an up to-date on this technique and its results. METHODS: A web search, focusing on humans, was performed by PubMed database, including papers published up to August 2016, using the key words "ultrasonography" AND "non-recurrent laryngeal nerve" or "nonrecurrent laryngeal nerve". RESULTS: Eight papers, including 3,740 patients who underwent neck US for the detection of NRLN were selected. Only five studies focused on the preoperative use of US. The incidence of NRLN varied between 0.4% and 1.94%. The sensitivity and specificity varied between 99-100% and 41-100%, respectively. CONCLUSIONS: US is a simple, non-invasive and cost-effective method to detect NRLN, also if its accuracy is not absolute. It may be used preoperatively and to prevent the intraoperative nerve damage, since the risk of NRLN palsies is significantly reduced when a preoperative diagnosis is available.

Increased and safer detection of nonrecurrent inferior laryngeal nerve after preoperative ultrasonography.

OBJECTIVES/HYPOTHESIS: Right nonrecurrent inferior laryngeal nerve (NRLN) is an anatomical variant reported with a variable prevalence (0.3%-6%). It is associated with some arterial abnormalities (absence of the brachiocephalic trunk and presence of a right aberrant subclavian lusorian artery) that may be identified by preoperative ultrasonography (pUS). NRLN represents a major morbidity risk factor during neck surgery. The aim of this study was to verify pUS accuracy in predicting NRLN and to assess the impact of this technique on NRLN detection rate and laryngeal morbidity. STUDY DESIGN: Retrospective. METHODS: The study included 1,477 patients undergoing thyroid and parathyroid surgery with right-side inferior laryngeal nerve exploration. pUS was performed in 878 patients (pUS group); no preoperative attempts were performed in the remaining 599 patients (controls). Demographics, disease type, intraoperative inferior laryngeal nerve anatomy, and laryngeal morbidity were compared. RESULTS: No differences occurred between the two groups concerning demographics and disease type. NRLN was detected in 17 patients (1.9%) of the pUS group and in four patients (0.6%) of controls (P < 0.05). pUS predicted NRLN in all cases, with an overall accuracy > 98%. Overall laryngeal nerves morbidity was 1.8% in the pUS group and 4.2% in the controls (P < 0.05). NRLN palsy never occurred in the pUS group, whereas it occurred three times in the controls (P < 0.005). CONCLUSION: NRLN is accurately predicted by pUS. It occurs more frequently than expected because it may be misdiagnosed when no preoperative suspicion is available. Preoperative NRLN detection by pUS prevents inferior laryngeal nerve injuries.

Approach to the surgical management of primary aldosteronism.

Primary aldosteronism (PA) is the most common cause of endocrine hypertension; it has been reported in more than 11% of referred hypertensive patients. PA may be caused by unilateral adrenal involvement [aldosterone producing adenoma (APA) or unilateral adrenal hyperplasia (UAH)], and bilateral disease (idiopathic adrenal hyperplasia). Only patients with unilateral adrenal hypersecretion may be cured by unilateral adrenalectomy, while patients with bilateral and non-surgically correctable PA are usually treated by mineralocorticoid receptor antagonists; thus the distinction between unilateral and bilateral aldosterone hypersecretion is crucial. Most experts agree that the referral diagnostic test for lateralization of aldosterone hypersecretion should be adrenal venous sampling (AVS) because the interpretation of other imaging techniques [computed tomography (CT), magnetic resonance imaging (MRI) and scintigraphy] may lead to inappropriate treatment. Adrenalectomy represents the elective treatment in unilateral PA variants. Laparoscopic surgery, using transperitoneal or retroperitoneal approaches, is the preferred strategy. Otherwise, the indications to laparoscopic unilateral total or partial adrenalectomy in patients with unilateral PA remain controversial. Adrenalectomy is highly successful in curing the PA, with correction of hypokalemia in virtually all patients, cure of hypertension in about 30-60% of cases, and a marked improvement of blood pressure values in the remaining patients. Interestingly, in several papers the outcomes of surgery focus only on blood pressure changes and the normalization of serum potassium levels is often used as a surrogate of PA recovery. However, the goal of surgery is the normalization of aldosterone, because chronically elevated levels of this hormone can lead to cardiovascular complications, independently from blood pressure levels. Thus, we strongly advocate the need of considering the postoperative normalization of aldosterone-renin ratio (ARR) as the main endpoint for determining outcomes of PA.

Outcome of surgical treatment of primary aldosteronism.

PURPOSE: The aim of this retrospective study was to analyze the early and long-term outcomes of the surgical treatment of primary aldosteronism (PA), the most common surgically correctable cause of endocrine hypertension. METHODS: Serum Potassium levels, blood pressure values, and aldosterone/renin ratio (ARR) were assessed in 128 patients undergoing unilateral adrenalectomy for PA, before and after surgery. The role of lateralizing techniques and the relationship between outcome and histopathology findings were also evaluated. RESULTS: Biochemical cure of PA (ARR and kalemia normalization) was achieved in 95 % of patients, at early follow-up. Single aldosterone-producing adenoma, multinodular hyperplasia, and diffuse hyperplasia were found in 46, 45, and 9 % of the patients, respectively. No relationship between histopathology and persistence or recurrence of PA was found. The use of further lateralizing techniques in addition to computed tomography or magnetic resonance was the main predictor of PA cure (p = 0.02); adrenal venous sampling (AVS) was more accurate than scintigraphy in PA lateralization (p < 0.05). After surgery, hypertension was cured in 55 % and improved in 36 % of patients. Female gender, a lower number of antihypertensive drugs, and a shorter duration of hypertension were the main predictors of hypertension cure. At long-term, recurrent PA occurred in 3.7 % of cases. CONCLUSIONS: Early diagnosis and correct lateralization of hyperaldosteronism by means of AVS are keys to achieve surgical cure of PA and PA-related hypertension. PA may be also caused by unilateral hyperplasia, which may be cured by unilateral adrenalectomy. Recurrences of PA are rare, although a prolonged follow-up is required.

The effects of acupuncture after thyroid surgery: A randomized, controlled trial.

BACKGROUND: Acupuncture is a safe and well-tolerated treatment for pain relief. Previous studies supported the effectiveness of several acupuncture techniques for postoperative pain. The aim of this randomized, controlled trial was to evaluate the efficacy of acupuncture in reducing pain after thyroid surgery. METHODS: We randomized 121 patients to a control group (undergoing only standard postoperative analgesic treatment with acetaminophen) and an acupuncture group, undergoing also either electroacupuncture (EA) or traditional acupuncture (TA). Pain was measured according to intraoperative remifentanil use, acetaminophen daily intake, Numeric Rating Scale (NRS), and McGill Pain Questionnaire on postoperative days (POD) 1-3. RESULTS: Acupuncture group required less acetaminophen than controls at POD 2 (P = .01) and 3 (P = .016). EA patients required less remifentanil (P = .032) and acetaminophen than controls at POD 2 (P = .004) and 3 (P = .008). EA patients showed a trend toward better NRS and McGill scores from POD 1 to 3 compared with controls. EA patients had a lower remifentanil requirement and better NRS and McGill scores than TA patients. No differences occurred between TA patients and controls. CONCLUSION: Acupuncture may be effective in reducing pain after thyroid surgery. EA is more useful; TA achieves no significant effects.

The perils of dental vacation: possible anaesthetic and medicolegal consequences.

INTRODUCTION: The aim of this paper is to emphasize anaesthesiologists' difficulty in detecting poor dentition in cases of poorly applied prostheses and/or advanced periodontal disease, and to establish whether it is possible, and in which conditions, to calculate compensation in cases of dental damage postlaryngoscopy and/or intubation. The main complex problem here lies in trying to reconstruct exactly what the dental situation was before the teeth were damaged. For this reason the important preoperative factors (dental prostheses, crown fractures, parodontal disease, etc.) must be clearly shown before surgery on a dental chart. CLINICAL CASES: Two cases of interest, both to anaesthesiologists practising intubation and medicolegal physicians who have to deal with potential claims, are briefly reported. The first patient was a 55-year-old diabetic patient, who underwent emergency surgery for acute abdominal pathology. He had gone outside Italy for dental treatment three years previously and now presented with very poor pre-existing dentition, carefully noted on an anaesthetic chart. He now demanded compensation for dental damage due to intubation in Italy; the resulting dental treatment was very expensive because substantial remedial work was required. The second patient had received treatment outside Italy, work which involved cosmetic coating of the teeth. After surgery in Italy, she demanded compensation because one tooth, which had been coated and appeared to be healthy, was broken after emergency intubation. In both cases, the patients demanded very high compensation. COMMENT: Dental tourism alone accounts for more than 250,000 patients each year who combine a holiday with dental treatment in Eastern Europe. However, if prosthetic devices or conservative treatments are not applied correctly, it should be noted that durability may be poorer than expected, but iatrogenic damage may also be caused.

Adrenalectomy may improve cardiovascular and metabolic impairment and ameliorate quality of life in patients with adrenal incidentalomas and subclinical Cushing's syndrome.

BACKGROUND: Adrenalectomy represents the definitive treatment in clinically evident Cushing's syndrome; however, the most appropriate treatment for patients with subclinical Cushing's syndrome (SCS) with an adrenal incidentaloma remains controversial. This study was aimed to assess whether adrenalectomy may improve cardiovascular and metabolic impairment and quality of life compared with conservative management. METHODS: Twenty patients with adrenal incidentaloma underwent laparoscopic adrenalectomy for SCS, whereas 15 were managed conservatively. Hormonal laboratory parameters of corticosteroid secretion, arterial blood pressure (BP), glycometabolic profile, and quality of life (by the SF-36 questionnaire) were compared at baseline and the end of follow-up. RESULTS: The 2 groups were equivalent concerning all the examined parameters at baseline. In the operative group, laboratory corticosteroid parameters normalized in all patients but not in the conservative-management group (P < .001). In operated patients, a decrease in BP occurred in 53% of patients, glycometabolic control improved in 50%, and body mass index decreased; in contrast, no improvement or some worsening occurred in the conservative-management group (P < .01). SF-36 evaluation improved in the operative group (P < .05). CONCLUSION: Adrenalectomy can be more beneficial than conservative management in SCS and may achieve remission of laboratory hormonal abnormalities and improve BP, glycemic control, body mass index, and quality of life.

Unilateral adrenal hyperplasia: a novel cause of surgically correctable primary hyperaldosteronism.

BACKGROUND: Primary hyperaldosteronism may be caused by an aldosterone-producing adenoma (APA), which is correctable by unilateral adrenalectomy or by idiopathic adrenal hyperplasia, a bilateral disease without any indication for surgery. This study sought to assess the prevalence and the results of surgery in unilateral adrenal hyperplasia (UAH). METHODS: The study included 35 patients who underwent unilateral adrenalectomy because of primary hyperaldosteronism after unequivocal successful lateralization by adrenal venous sampling. Demographics, biochemical evaluation, and blood pressure were assessed pre- and postoperatively. Pathology was categorized as APA (isolated adenoma), nodular (multiple micromacronodules), and diffuse UAH (gland thickening without nodules). RESULTS: Pathology revealed 9 APAs and 23 nodular and 3 diffuse UAHs. Patients with APAs and UAHs were statistically similar regarding demographics and preoperative blood pressure levels. Bilateral adrenal involvement was evident at imaging in 10 patients (11% in APA versus 35% in UAH, P = NS). After surgery, biochemical cure of the disease was achieved in all patients; blood pressure levels normalized in 66.6% of patients and ameliorated in 22.2% in APA versus 34.6% and 50% in patients with UAH (P = NS). At a long-term follow-up, only 1 patient with nodular UAH experienced a biochemical recurrence of disease. CONCLUSION: UAH is not rare, sharing the same features of APA. When disease lateralization is confirmed by adrenal venous sampling, unilateral adrenalectomy achieves excellent long-term results.

The results of surgery for mediastinal parathyroid tumors: a comparative study of 63 patients.

PURPOSE: Parathyroidectomy for ectopic mediastinal hyperfunctioning glands could be performed by transcervical approach, sternotomy, thoracotomy, and recently by thoracoscopic and mediastinoscopic approaches. This study was aimed to analyze the results of traditional and video-assisted parathyroidectomy for mediastinal benign hyperfunctioning glands. METHODS: Fifty-one upper mediastinal exploration by a conventional cervicotomy, 12 by video-assisted approaches (two thoracoscopy and 10 transcervical mediastinoscopy) and six by sternotomy were performed in 63 patients with primary hyperparathyroidism. RESULTS: Video-assisted and sternotomic parathyroid explorations achieved biochemical cure in all cases; following conventional transcervical mediastinal exploration, a persistent hyperparathyroidism occurred in 11.8% of patients, who were subsequently cured by sternotomic approach. No complications occurred after video-assisted parathyroidectomy, while an overall morbidity rate of 50% and 10% was found after sternotomic and conventional cervicotomic approaches. Postoperative pain and hospital stay were significantly increased following sternotomy; patient's subjective cosmetic satisfaction was significantly higher after video-assisted and conventional cervicotomic approaches. CONCLUSIONS: Conventional cervicotomic parathyroidectomy may achieve satisfactory results, especially for upper mediastinal glands. Sternotomic approaches are effective, but should be limited because of invasiveness and increased morbidity. In case of deep and lower hyperfunctioning mediastinal parathyroids, video-assisted approaches represent a less invasive, effective, and safe alternative and might be the technique of choice.

Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred.

BACKGROUND: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal disease caused by inactivating germ-line mutations of HRPT2 gene, with subsequent loss of Parafibromin expression. It is characterized by familial HPT, ossifying jaw tumors, and other associated neoplasms. METHODS: Clinical, histopathological, and genetic features of three large Italian unrelated HPT-JT kindred were assessed. RESULTS: Three different germ-line HRPT2 inactivating mutations were identified. Seventeen affected members and six healthy mutation carriers were found. HPT was diagnosed in virtually all affected patients, at a median age of 36.3 years (range 11-71). In all cases, a single parathyroid involvement was found at surgery, although a metachronous multiglandular involvement causing recurrence after selective parathyroidectomy occurred in 17.6% of cases, after a mean disease-free interval of 13.7 years (range 5-27). Parathyroid carcinoma, atypical parathyroid adenoma, and jaw tumor occurred in one case; uterine involvement in 61.5% of women; other associated neoplasms were thyroid carcinoma (two cases) and renal and colon carcinoma (one case). Immunohistochemistry confirmed the loss of Parafibromin as the distinctive feature of the disease both in parathyroid and uterine tumors. CONCLUSIONS: HPT-JT has a frequent single-gland parathyroid involvement and a relatively increased risk of parathyroid carcinoma. The penetrance of the disease is high but incomplete. Regardless of the denomination of the syndrome, jaw tumors occur rarely, while uterine involvement is frequently present. Selective parathyroidectomy may be an effective strategy, but a prolonged follow-up is required because of the risk of recurrences and malignancies. A systematic investigation is also required because of associated malignancies.

Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.

CDC73 (HRPT2) germline mutations are responsible for more than half of cases of hyperparathyroidism-jaw tumor syndrome (HPT-JT) and for a subset of familial isolated HPT (FIHP). We performed a clinical, genetic, and histopathologic study in three unrelated Italian kindreds with HPT-JT and FIHP. We identified three germline inactivating mutations of the CDC73 gene in the probands and affected patients of the three kindreds, but also in some asymptomatic subjects. HPT-JT and FIHP patients had similar laboratory, clinical, and demographic features and shared primary HPT and other neoplasms, the most common of which was uterine polyposis. Genetic analysis of tumor samples demonstrated a second somatic CDC73 mutation only in a parathyroid adenoma and no cases with the loss of the wild-type allele or methylation of the CDC73 promoter, even though immunohistochemical analysis demonstrated the loss of nuclear parafibromin expression in all tumors, including a uterine polyp. In conclusion, our results indicate that FIHP and HPT-JT associated with CDC73 mutations do not have distinct clinical, genetic, and histopathologic features, but may represent variants of the same genetic disease. This study also confirms that uterine involvement represents a clinical manifestation of the syndrome.

The usefulness of preoperative ultrasonographic identification of nonrecurrent inferior laryngeal nerve in neck surgery.

BACKGROUNDS AND AIMS: Nonrecurrent inferior laryngeal nerve (ILN) represents a risk factor for injury during neck surgery. It is associated to arterial abnormalities (absence of the brachiocephalic trunk and arteria lusoria) that can be identified by ultrasonography. The aim of the study was to verify the usefulness of preoperative ultrasonography in the research of nonrecurrent ILN by the means of identification of arterial abnormalities and the impact on ILN morbidity. PATIENTS AND METHODS: The study included 750 patients who underwent neck surgery with right-side ILN dissection. A preoperative ultrasonography aimed to identify arterial abnormalities associated to nonrecurrent ILN was performed in 400 patients (Group A) while no preoperative attempts were performed in the remaining patients (Group B). Patients' characteristics, time for intraoperative identification of the ILN, and morbidity were compared. RESULTS: Five and four nonrecurrent ILN were identified in groups A and B, respectively (p = NS). Preoperative ultrasonography correctly predicted nonrecurrent ILN in all cases (accuracy 100%). Nonrecurrent ILN palsy never occurred in group A, while three cases occurred in group B (p < 0.05). The mean time for intraoperative identification of both nonrecurrent and normally recurrent ILN was significantly shorter in group A (p < 0.01). CONCLUSIONS: Preoperative ultrasonography can correctly identify nonrecurrent ILN, allowing earlier nerve identification and prevention of injuries.

The role of unilateral adrenalectomy in ACTH-independent macronodular adrenal hyperplasia (AIMAH).

BACKGROUND: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing's syndrome. Bilateral adrenalectomy is considered the treatment of choice, with subsequent lifetime steroid replacement, but unilateral adrenalectomy has been recently proposed to reduce the secreting tissue. This prospective study was designed to evaluate the long-term results of unilateral adrenalectomy in AIMAH concerning the main laboratory and clinical abnormalities and the patient's quality of life. METHODS: Seven consecutive patients with confirmed AIMAH underwent unilateral adrenalectomy of the largest gland. ACTH and cortisol levels, arterial blood pressure (BP), glycometabolic parameters, and patient's subjective perception of health-related quality of life (by the SF-36 questionnaire) were measured preoperatively and postoperatively. RESULTS: No surgery-related morbidity occurred. One patient with a large contralateral adrenal enlargement required a completion adrenalectomy after 7 months because of persistent hypercortisolism. At a median follow-up of 53 (range, 27-68) months, the remaining six patients were cured, because serum and urinary free cortisol levels significantly decreased and ACTH increased, thus regaining the normal range. Both systolic and diastolic BP levels significantly reduced: 50% of patients definitively became normotensive, and the remaining patients reduced the need for antihypertensive treatment; 40% of patients suffering from preoperative diabetes were cured, whereas 40% reduced the need for hypoglycemizing drug. SF-36 evaluation of the health-related quality of life confirmed a significant amelioration. CONCLUSIONS: Unilateral adrenalectomy of the largest gland can be an effective and safe treatment for AIMAH in case of asymmetric involvement. It may achieve long-term remission of Cushing's syndrome and improve BP values, glycemic control, and patient's quality of life.