New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study.

PURPOSE: Many questions concerning Turner syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. The primary aim of this long-term cohort study was to estimate the incidence of comorbid conditions along the life course. METHODS: A total of 160 Italian patients with TS diagnosed from 1967 to 2010 were regularly and structurally monitored from the diagnosis to December 2019 at the University Hospital of Bologna using a structured multidisciplinary monitoring protocol. RESULTS: The study cohort was followed up for a median of 27 years (IQR 12-42). Autoimmune diseases were the comorbid condition with the highest incidence (61.2%), followed by osteoporosis and hypertension (23.8%), type 2 diabetes (16.2%) and tumours (15.1%). Median age of onset ranged from 22 years for autoimmune diseases to 39 years for type 2 diabetes. Malignant tumours were the most prominent type of neoplasm, with a cumulative incidence of 11.9%. Papillary thyroid carcinoma was the most common form of cancer, followed by skin cancer and cancer of the central nervous system. Only one major cardiovascular event (acute aortic dissection) was observed during follow-up. No cases of ischaemic heart disease, heart failure, stroke or death were recorded. CONCLUSIONS: This cohort study confirms the need for continuous, structured and multidisciplinary lifelong monitoring of TS, thus ensuring the early diagnosis of important comorbid conditions, including cancer, and their appropriate and timely treatment. In addition, these data highlight the need for the increased surveillance of specific types of cancer in TS, including thyroid carcinoma.

Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.

OBJECTIVE: We aimed at defining the most effective routine immunoassay- or liquid chromatography-tandem mass spectrometry (LC-MS/MS)-determined steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency (21-NCAH) in a PCOS-like population before genotyping. METHODS: Seventy PCOS-like patients in reproductive age with immunoassay-determined follicular 17OH-progesterone (17OHP) ≥ 2.00 ng/mL underwent CYP21A2 gene analysis and 1-24ACTH test. Serum steroids were measured by immunoassays at baseline and 60 min after ACTH stimulation; basal steroid profile was measured by LC-MS/MS. RESULTS: Genotyping revealed 23 21-NCAH, 15 single allele heterozygous CYP21A2 mutations (21-HTZ) and 32 PCOS patients displaying similar clinical and metabolic features. Immunoassays revealed higher baseline 17OHP and testosterone, and after ACTH stimulation, higher 17OHP (17OHP60) and lower cortisol, whereas LC-MS/MS revealed higher 17OHP (17OHPLC-MS/MS), progesterone and 21-deoxycortisol and lower corticosterone in 21-NCAH compared with both 21-HTZ and PCOS patients. Steroid thresholds best discriminating 21-NCAH from 21-HTZ and PCOS were estimated, and their diagnostic accuracy in identifying 21-NCAH from PCOS was established by ROC analysis. The highest accuracy was observed for 21-deoxycortisol ≥ 0.087 ng/mL, showing 100% sensitivity, while the combination of 17OHPLC-MS/MS ≥ 1.79 ng/mL and corticosterone ≤ 8.76 ng/mL, as well as the combination of ACTH-stimulated 17OHP ≥ 6.77 ng/mL and cortisol ≤ 240 ng/mL by immunoassay, showed 100% specificity. CONCLUSIONS: LC-MS/MS measurement of basal follicular 21-deoxycortisol, 17OHP and corticosterone seems the most convenient method for diagnosing 21-NCAH in a population of PCOS with a positive first level screening, providing high accuracy and reducing the need for ACTH stimulation test.

Influence of acute cholecystitis on surgical strategy and outcome of inapparent carcinoma of the gallbladder: a report on two cases.

Unsuspected microscopic adenocarcinoma (T1) of the gallbladder was identified after surgery in two patients who underwent urgent open cholecystectomy for acute cholecystitis. In spite of the tumor being at an early stage both patients died after few months for local and disseminated tumor recurrence. The influence of the associated inflammatory disease of the gallbladder on the outcome of patients with inapparent gallbladder carcinoma is discussed and a more aggressive surgical strategy is suggested.

Recurrences following videothoracoscopic treatment of primary spontaneous pneumothorax: the role of redo-videothoracoscopy.

OBJECTIVE: There is very little experience regarding recurrences following videothoracoscopic (VATS) treatment of primary spontaneous pneumothorax. We report our experience with 19 patients who underwent redo-VATS to evaluate the feasibility of such surgical approach. METHODS: From July 1, 1992 to September 1, 2000, out of 2136 VATS procedures performed at our institution, 597 patients (27.94%) underwent VATS treatment of primary spontaneous pneumothorax with a recurrence rate of 3.85% (23 cases). Primary VATS treatment in these patients was: talc poudrage, three cases; subtotal pleurectomy, three cases; ligation of the bullae + subtotal pleurectomy, 12 cases; stapling of the bullae + subtotal pleurectomy, two cases; ligation of the bullae + talc poudrage, one case; stapling of the bullae + talc poudrage, one case. Treatment of the 23 recurrences included: 15 redo-VATS, four standard thoracotomy, three pleural drainage, one bed rest. Four additional redo-VATS were also performed in four patients operated on in different institutions. Redo-VATS showed residual bullae in nine cases and a minimal leaking area in one patient; in the remaining nine patients no lesion was found. Redo-VATS treatment was: stapling of the bullae + talc poudrage in nine patients; suture of the leaking area with a no-knife stapler + talc poudrage in one patient; isolated talc poudrage in the remaining nine patients with no-evidence of bullae or blebs. RESULTS: No mortality was reported; no major complications occurred. The conversion rate in the group of redo-VATS was 5.2% (one patient). At a mean follow-up of 32 months no patient showed recurrent pneumothorax. CONCLUSIONS: In the light of our initial experience, redo-VATS seems to be a promising tool for the surgical therapy of recurrences following VATS treatment of primary spontaneous pneumothorax.

Long-term follow-up of video-assisted talc pleurodesis in malignant recurrent pleural effusions.

OBJECTIVE: Recurrent pleural effusion is a common condition and often presents a challenge for treatment. The aim of this report is to evaluate the long-term follow-up of thoracoscopic management of malignant recurrent pleural effusions. METHODS: From July 1st, 1992 to February 28th, 2001, out of 2311 VATS procedures performed at our Institution, 690 patients (29.85%) underwent videothoracoscopy (VATS) for recurrent pleural effusion. Of these 611 (88.55%) were treated for a malignant pleural effusion. There were 374 male and 237 female, with a mean age of 61.2 years. In all patients VATS was performed under general anaesthesia. The pleural effusion was carefully aspirated; fibrinous adhesions were taken down while dense fibrous adhesions were selectively divided; some limited decortications were also performed. Multiple pleural biopsies were always performed. Pleurodesis was performed with 5 g of sterile purified talc insufflated through a talc atomizer. One chest tube was left in situ for 3-5 days. RESULTS: Operative mortality was 0.81% (five cases). Postoperative complications occurred in 19 cases (3.1%). Specific histologic diagnosis was obtained in all patients. Follow-up was available for 602 patients (98.5%). After a median follow-up of 64 months (range 5-105 months), talc pleurodesis was successful in controlling recurrence of effusion in 92.7% (558 out of 602) of patients. The success rate did not show any statistically significant difference between patients who underwent postoperative adjuvant therapy and patients who did not. In two patients with failure of talc pleurodesis a redo-VATS was performed. CONCLUSIONS: VATS represents the method of choice for both diagnosis and treatment of malignant recurrent pleural effusions. Talc poudrage is safe and effective in obtaining pleurodesis.

[Fiberoptic bronchoscopy as diagnostic tool in primitive lung cancer]. / Ruolo diagnostico della fi brobroncoscopia nelle neoplasie polmonari primitive.

OBJECTIVE: The aim of this study was to assess the diagnostic role of fiberoptic bronchoscopy in primitive lung cancers in relation to the sensibility, the specificity and the cost of the examination. MATERIALS AND METHODS: We analysed the diagnostic flow-charts of 473 patients with suspected primitive lung cancer consecutively examined during a period of 4 years (2003-2006). The results were analysed comparing patients observed in the period 2003-2004 with those observed during 2005-2006. The number and type of samples collected and the protocols utilized were considered. RESULTS: In overall patients the reliability of the fiberoptic bronchoscopy was 61.7%, with a significant increase from 47.5% in 2003-2004 to 74.4% in 2005-2006. An important role in improving the diagnostic relevance of the exam was assumed by the more frequent adoption of biopsies and trans-bronchial needle aspiration on parenchyma and mediastinal lymph nodes. CONCLUSIONS: The fiberoptic-bronchoscopy associated to advanced tissue sampling techniques represents the gold standard for the diagnosis of lung cancer, due to high sensitivity and specificity and moderate cost.

Fatal bleeding after fine-needle aspiration biopsy of the liver.

Ultrasonographic-guided fine-needle aspiration (FNA) biopsy has become a routine diagnostic procedure in the histological evaluation of both focal and chronic liver diseases. It is a safe and low-cost procedure that may be quickly and easily performed by radiologists and gastroenterologists. Severe and unexpected complications, of FNA biopsy, are rarely observed, haemorrhage being the most frequent and often fatal (1,2). This report presents the case of a patient with chronic liver disease who died of massive hemorrhage due to a FNA biopsy complication.

Incidence of incisional hernia following emergency abdominal surgery.

BACKGROUND: A retrospective study was conducted to determine incidence and predisposing factors of incisional hernia after an emergency midline laparotomy. PATIENTS AND METHODS: The study population consisted in 197 patients of whom 138 were followed-up for 2 years after surgery. RESULTS: An incisional hernia developed in 25 (18.1%) patients at a mean follow-up of 11.2 months. Multivariate analysis showed the importance of age (> 60 years, p < 0.004), obesity (p < 0.008) and occurrence of post-operative wound infection (p < 0.00001) for the development of an incisional hernia. Univariate analysis showed that intestinal occlusion (p < 0.02), peritonitis (p < 0.006), upper abdominal access (p < 0.04) and post-operative wound infection (p < 0.003) in older patients and obesity (p < 0.003) and the presence of a neoplasm (p < 0.006) in younger patients, played a significant role. The comparison between young and old patients showed that upper abdominal access (p < 0.007), interrupted and layered wound closure (p < 0.02 and p < 0.01, respectively) and contamination of the operative field (p < 0.004) played a statistically significant role in older patients. CONCLUSIONS: The rate of incisional hernia after an emergency midline laparotomy is higher than after elective procedures. However, it could be reduced with proper attention to the suture technique, i.e. mass and continuous suture, better preparation of the operative field and scrupulous sterility throughout the procedure in order to decrease the incidence of post-operative wound infection.