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Nerve biopsy represents the conclusive step in the diagnostic work-up of peripheral neuropathies, and its diagnostic yield is still debated. The aim of this study is to consider the impact of nerve biopsy on reaching a useful diagnosis in different peripheral neuropathies and its changing over time. We retrospectively analyzed 1,179 sural nerve biopsies performed in the period 1981–2017 at Neurological Clinic of Policlinico San Martino (Genoa). We relied on medical records and collected both clinical and pathological data in a database. Biopsy provided univocal diagnoses in 53% of cases (with an increase over time), multiple diagnostic options in 14%, while diagnosis was undetermined in 33% (undetermined reports decreased during the years). In 57% of patients, the pre-biopsy suspicion was confirmed, while in 43% sural biopsy modified the clinical diagnosis. The highest yield was in axonal neuropathies (29% undetermined reports vs. 40% in demyelinating and 48% in mixed neuropathies). In 68% of patients with vasculitic neuropathy, this etiology was already suspected, whereas in 32% nerve biopsy modified the clinical diagnosis. During the years, the number of annually performed biopsies decreased significantly (p = 0.007), with an increase in the mean age of patients (p < 0.0001). The percentage of hereditary neuropathies had a significant decrease (p = 0.016), while the rate of vasculitic and chronic inflammatory neuropathies increased (p < 0.0001). This is the largest Italian study addressing the yield of sural nerve biopsy. During the years, we observed a progressive refinement of the indication of this procedure, which confirms its utility for interstitial neuropathies, particularly if non-systemic vasculitic neuropathy is suspected. [ABSTRACT FROM AUTHOR]

Objective. To find out by studying a homogeneous group of patients whether euthyroidism is achievable by surgical treatment of diffuse toxic goitre. Design. Retrospective study Setting. Teaching hospital, Italy. Subjects. 128 of the 152 patients operated on for diffuse toxic goitre during the period January 1971–December 1994 and followed up for a median of 83 months (range 6–289). Intervention. Standard subtotal thyroidectomy. Main outcome measures. Operative mortality, recurrence, hypothyroidism and late complications. Results. There were no operative deaths. After 10 years follow up, 11 patients (9%) had developed recurrences and 61 (48%) were euthyroid. In the univariate analysis the risk of hypothyroidism was significantly associated with the year of operation (p = 0.04), the duration of symptoms (p < 0.01), and the degree of lymphocytic infiltration (p < 0.01). The last two were confirmed by multivariate analysis. Conclusion. Subtotal thyroidectomy seems to be an effective treatment of diffuse toxic goitre as a stable euthyroid state can be achieved in nearly half the patients after a prolonged follow up. [ABSTRACT FROM AUTHOR]

Medullary thyroid carcinomas (MTCs) are rare thyroid tumors occurring in both sporadic and hereditary forms, whose pathogenesis is related to RET proto-oncogene alterations. MTCs originate from parafollicular cells, which produce calcitonin that represents the biochemical activity of MTC. Total thyroidectomy is the main treatment for MTC and often cures patients with confined diseases. In the presence of metastasis, the therapeutic approach depends on the rate of disease progression. We report a case of a 54-year-old female with a single, incidentally discovered, thyroid nodule of 1 cm, classified as suspicious MTC after a stimulation test with intravenous (iv) calcium. After surgery, we examined the nodule using immunohistochemistry, immunofluorescence, and electron microscopy. In addition to calcitonin, we found that it expressed intracellular positivity for the tyrosine kinase RTK receptors ERBB1 and ERBB2. Consistently with MTC features, the ultrastructural examination of the tumor displayed heterogeneous spindle-shaped cells containing two groups of secretory granules. Because of the significant correlation found between high ERBB1/ERBB2 levels in MTCs and extrathyroidal growth, the detection of ERBB1 and ERBB2 expression suggests that the two oncoproteins may be involved in the tumor proliferative responses and/or in the differentiation of parafollicular C-cells. The biological, prognostic, and therapeutic significance of these patterns would merit further investigations. [ABSTRACT FROM AUTHOR]

A surgical series of 30 cervico-mediastinal thyroid cancer patients operated on has been retrospectively reviewed. Results were compared with those obtained in patients operated on for benign cervico-mediastinal goiter and thyroid cancer confined to cervical region. Of 4688 thyroidectomies performed, 30 patients were operated on for thyroid carcinoma with cervicomediastinal extension. There were 15 males and 15 females. The mean age was 67 years (range, 21-86 years). Patients with cervico-mediastinal cancer were significantly older than patients with benign cervico-mediastinal goiter (P < 0.0001). Time between onset of first symptoms and surgery was significantly longer in patients with cervico-mediastinal cancer than in those with benign cervico-mediastinal goiter (P < 0.0001) and cervical thyroid cancer. Signs and symptoms at the time of surgery were cervical mass in 28 patients (93%), cervical lymphadenopathy in 20 patients (66%), dyspnea in 21 (70%), dysphagia in 9 (30%), dysphonia in 2 (7%), and venous stasis in 1 (3%). None of the patients was asymptomatic. Total thyroidectomy with functional lymphectomy was performed in 16 cases. Seven of these patients were operated on in 2 stages. In 8 cases the operation was a debulking procedure, and in 6 it was a near-total thyroidectomy. Sternotomy was performed in two cases. A differentiated thyroid cancer was found in 21 patients (70%), medullary in 5 (17%) and undifferentiated in 4 (13%). The incidence of medullary carcinoma was significantly higher compared with cervical cancer (P < 0.008). Postoperative complications were higher than those occurring in benign cervico-mediastinal goiter and similar to those occurring in cervical cancer. The actuarial survival was similar to that of cervical cancer matched for age and sex. This analysis shows that the longer clinical history of goiter is related to its endothoracic development and its neoplastic transformation. This finding should further encourage surgeons to tr... [ABSTRACT FROM AUTHOR]