28 research outputs found

    MEN1 family with a novel frameshift mutation.

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    Multiple endocrine neoplasm type 1 (MEN1) syndrome predisposes to the development of endocrine and non-endocrine tumors with an autosomal dominant pattern of inheritance. Different mutations have been found throughout the gene with a variable phenotype expression. The proband, a Caucasian man, was admitted to our department in 2001, at the age of 51 because of a 1-yr history of diarrhoea and hypertension. He reported a previous intestinal resection for bowel occlusion with a histological diagnosis of unspecified mesenchymal neoplasia. He had also undergone a left adrenalectomy for a large nonfunctioning adrenal adenoma. Subsequently, he had suffered from gastralgia and melena; a gastroduodenoscopy showed an erosive gastritis. His family history was negative for endocrine disorders. On physical examination, multiple abdominal cutaneous lipomas and facial angiofibromas were observed. Biochemical screening revealed a primary hyperparathyroidism and an increase in circulating levels of PRL, chromogranin-A, gastrin and glucagon. The whole body computed tomography (CT) scan, the 111In-octreotide scan and the pituitary magnetic resonance imaging (MRI) did not reveal any abnormality. The presence of small neuroendocrine tumors was suspected by a positron emission tomography uptake in the epigastric region. The endoscopic ultrasound revealed a pancreatic lesion sized 1.1 cm that is under evaluation. Direct DNA sequencing analysis of the proband MEN1 gene revealed the 579delG frameshift mutation in the exon 3. The genetic screening of the family revealed the same mutation in 3 out of 5 offspring. The biochemical screening revealed some features of the MEN1 syndrome in all three of them. In conclusion, a novel frameshift MEN1 mutation was found in kindred with an apparently negative family history. Our experience confirms that MEN1 syndrome is a complex and underestimated condition, unless specifically investigated by trained specialists

    Surgical therapy for rectal prolapse: Advantages and limits of proctopexy using an abdominal route

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    In the surgical treatment of prolapse proctopexies using an abdominal route and synthetic mesh appear to represent the most effective type of surgery. Various techniques can be used, all with similar results: in particular, it is worth emphasising the low operating risk even in elderly patients, the small number of recurrences, and the improved continence reported in many cases. The authors discuss whether the mobilisation of the rectum as far as the levators ani, a stage which precedes the plasty, should be circumferential or limited to the posterior wall in order to avoid nerve lesions. Although specific complications are limited in overall terms (in particular the risk of sepsis), the occurrence of a considerable numer of alterations of the alvus, ranging from persistent stipsis to real occlusion, are worth noting in the postoperative period. These may be explained by the formation of a convoluted sigmoid loop and damage to nerve fibres in the autonomous system. Alternative operations such as simple presacral proctopexy associated with sigmoid resection or surgery using a perineal route (e.g. Delorme's technique) are therefore used and should not only be reserved for those patients in generally poor conditions. Moreover, these techniques are often not simple and a much higher number of recurrences are reported compared to abdominal proctopexy

    Intraoperative parathyroid hormone testing in primary hyperparathyroidism surgery : time for giving up?

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    PURPOSE: Intraoperative PTH testing (IOPTH) in treatment of primary hyperparathyroidism (PH) is debated. Some authors advise against IOPTH in patients with concordant preoperative imaging undergoing focused parathyroidectomy. This study aims to compare focused parathyroidectomy success rates with and without IOPTH in patients with concordant preoperative imaging. METHODS: Retrospective cohort study involving 599 consecutive patients underwent surgery for PH from 2012 to 2017. Patients with discordant preoperative imaging were excluded. 426 patients underwent focused parathyroidectomy (214 patients without IOPTH and 212 with IOPTH) and were considered for the statistical analysis. In case of insufficient IOPTH decay (less than 50%), a bilateral exploration was carried out. RESULTS: The IOPTH group and the non-IOPTH group were similar for demographics and preoperative PTH and calcaemia. 413 patients were cured and disease persistence rates between groups were not significantly different (p > 0.05). CONCLUSIONS: Although further testing and randomized-controlled trials are required to validate our findings, our data show that IOPTH does not seem to improve the outcome in patients with concordant preoperative imaging undergoing focused parathyroidectomy

    Validità, limiti ed indicazioni del dosaggio intraoperatorio del paratormone (I-PTH) ne ltrattamento chirurgico dell'iperparatiroidismo primario

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    Introduction - Recently new methods have been experienced to achieve the best surgical results in complete removal of pathological parathyroid tissue; serum I-PTH (1-84) rapid dosage is the most interesting and reliable method. Material and methods - In a group of 11 patients with IPP, diagnosed by high levels of I-PTH, total and ionized serum calcium, 7 were paucisymptomatic, 3 presented nephrolityasis, 1 acute pancreatitis and severe hypercalcemic crisis. No MEN were found. A systemic research of all paratyroid glands was always performed, then 10, 20, 30 and any 30 minutes after each parathyroidectomy serum I-PTH rapid dosage was made (rapid IRMA method) until the end of surgical treatment. Results - Eight single adenomas paratyroid were diagnosed, 1 double adenoma and 2 hyperplasia. All patients had high levels of serum I-PTH during pathologic paratyroid removal. The decrement of I-PTH level to 40% 10 min after parathyroidectomy, and 50% after 20 minutes confirmed the efficacy of surgery. Discussion - Intraoperative rapid dosage of I-PTH associated with anatomopathologic results leads to a successful diagnosis and therapy. Sometimes in multiglandular disease serum level of PTH dicreases after first parathyroidectomy as in a single adenoma: this underlines the importance of systematic surgical research of all glands in any case. Conclusion - In our experience serum I-PTH rapid dosage in IPP would be applied by specialized surgical equipes only in selected patients, such as reoperation or those few cases of first surgical treatment when ectopy is suspected

    Limiti del neuromonitoraggio

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    Vengono esposti i limiti della tecnica relativi a paralisi del ricorrente, difformità dell'applicazione della tecnica standardizzata, conoscenza degli algoritmi per la soluzione dei problemi, superiorità del giudizio clinico, basso valore predittivo positivo della tecnica, costi
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