Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?

The clinical manifestation of multiple endocrine neoplasia type 2 (MEN2) in terms of developing medullary thyroid cancer (MTC), pheochromocytoma (PCC), and/or primary hyperparathyroidism (PHPT) is related to the respective pathogenic variant of the RET proto-oncogene. The aim of this study is to retrospectively analyze the individual, genotype-dependent clinical manifestations of a large cohort of MEN2 patients. By comparing their clinical profile with currently existing evidence-based knowledge, an optimal therapy and prevention strategy in terms of prophylactic thyroidectomy and clinical follow-up could be ensured. This is a retrospective single-center study of 158 MEN2 patients who were diagnosed and/or surgically treated at a tertiary referral care center between 1990 and 2022. All participants were categorized according to their pathogenic variant of the RET proto-oncogene. Subsequently, the clinical manifestation of the disease and its time of occurrence was documented. Our analysis showed results in line with existing studies, except for a considerably lower-than-predicted occurrence of PCC in patients with V804M/L mutations. This study supports the current recommendation regarding the pathogenic variant-dependent management of this rare cancer-associated syndrome.

Feasibility of Autofluorescence Using Overlay Imaging for the Detection of Parathyroid Glands: Defining Standards.

BACKGROUND: The aim of this study is to define standards for the use of near-infrared autofluorescence (NIRAF)-based overlay imaging via EleVision IR (Medtronic, Dublin, Ireland) and to evaluate its clinical applicability. PATIENTS AND METHODS: This prospective study included 189 patients who had undergone open thyroid and/or parathyroid surgery and in whom EleVision IR was applied to visualize at least one parathyroid gland (PG) between January 2021 and May 2022 in a tertiary referral care center. Whether the PGs were first localized by the surgeon or by overlay imaging was noted. Handling of the device, application time and duration, distance, infrared intensity (IR%), and the angle of each measurement were analyzed. In thyroidectomies, the specimens were subsequently scanned for further PGs. NIRAF patterns and intensities were described. RESULTS: Overall, 543 PGs were analyzed in 158 (83.6%) surgeries of thyroid glands (TGs) and in 49 (25.9%) surgeries for hyperparathyroidism. In 111 (58.7%) patients, identical numbers of PGs were detected by the surgeon and by overlay imaging. While a larger number of PGs was identified by the surgeon in 48 (25.4%) patients, overlay imaging served to detect more PGs in 30 (15.9%) cases. In four (2.1%) patients, PGs were visualized post-thyroidectomy due to their autofluorescence on the specimen. NIRAF-based overlay imaging was applied to depict the PGs early on after exposure by the surgeon. The ideal distance for the measurement ranged between 8 and 12 cm with an angle of 90° and a mean IR% of 34.5% (± 17.6). CONCLUSIONS: Considering the standard operating procedures, NIRAF-based overlay imaging can be used as an adjunct tool for intraoperative localization.

The effect of genital hygiene behaviors and vaginal douching of pregnant women on preterm labor.

OBJECTIVE: To determine the effect of genital hygiene behavior (GHB) and vaginal douching (VD) of pregnant women on preterm labor (PTL). METHODS: This study, which was conducted with 365 pregnant women, is a cross-sectional study. Data were collected using a questionnaire and the Genital Hygiene Behavior Inventory (GHBI) was applied. RESULTS: The ratios of PTL diagnosis and VD practice, and mean GHBI scores of the pregnant women were 35.1%, 9.6%, and 64.42 ± 10.44, respectively. The prevalence of receiving a diagnosis of PTL was significantly higher in those who changed their underwear two to three times a week, took baths while sitting, cleansed their perineum with water using their hands, removed pubic hair at intervals of 2 months or longer, and performed VD. It was found that poor GHB and VD practices increased the rate of PTL and, in particular, VD was found to increase the risk of PTL around eight-fold. CONCLUSION: These results can help pregnant women to understand the relationship between genital hygiene and PTL and show the importance of being educated by health professionals about this issue.

Transoral Thyroidectomy: Initial Results of the European TOETVA Study Group.

BACKGROUND: The aim of this study was to evaluate a new surgical technique by the European Transoral Endoscopic Thyroidectomy Vestibular Approach (TOETVA) Study Group. METHODS: This study included 391 patients (47 [(12%]) male and 344 [(88%)] female) who had undergone endoscopic thyroid or parathyroid surgery via the vestibular approach between February 2016 and May 2022 at nine centers. The data were analyzed with regard to complications, surgery time and specimen retrieval. RESULTS: Overall, 376 (96.2%) TOETVA and 15 (3.8%) transoral endoscopic parathyroidectomy vestibular approach interventions were performed with an average surgery time of 145 (± 61.2) minutes and 509 nerves at risk. The specimens were retrieved via a transoral vestibular and retroauricular approach in 66 (16.9%) patients and via a transaxillary approach in 8 (2%). Benign histology including Grave's disease was identified in 272 (69.6%) patients, 1 (0.3%) presented noninvasive follicular thyroid neoplasms with papillary-like nuclear features, and 103 (26.3%) showed differentiated thyroid carcinoma. Solitary parathyroid adenoma were removed in 15 (3.8%) patients. Conversion to open surgery was necessary in 13 (3.3%) and revision had to be performed in 2 (0.5%) patients. Transient recurrent laryngeal nerve palsy (RLNP) was present in 18 (4.6%) and permanent RLNP in 2 (0.5%) patients. Fifteen (3.8%) patients experienced transient hypoparathyroidism after thyroidectomy. No case of permanent hypoparathyroidism was observed. Postoperative surgical site infection occurred in 1 (0.3%) patient. Despite a higher rate of sensory and motor disorders and skin discoloration at discharge, permanent disorders were present in only 3 (0.8%) and 16 (4.1%) patients, respectively. CONCLUSION: Our results show that transoral endoscopic surgery, performed by experienced endocrine surgeons, is a safe alternative to conventional thyroid surgery.

Accessing the influence of 99mTc-Sesta-MIBI-positive thyroid nodules on preoperative localisation studies in patients with primary hyperparathyroidism.

PURPOSE: Curative treatment for primary hyperparathyroidism (PHPT) is parathyroidectomy (PTX) with removal of the hyperfunctioning gland(s). In an endemic goitre region, 35-78% of PHPT patients show concomitant thyroid disease. This study aimed to evaluate if 99mTc-sestamibi (MIBI)-positive thyroid nodules decrease sensitivity in regard to localising the hyperfunctioning parathyroid gland(s) in PHPT patients. METHODS: Within 5 years, 497 consecutive patients with biochemically proven PHPT were included in this study. The data was analysed retrospectively. RESULTS: In total, 198 patients underwent PTX with thyroid surgery and 299 patients underwent sole PTX. Sensitivity of MIBI scan for PTX with and without thyroid surgery was 72.1% and 73.6%, respectively. A statistically significant difference in sensitivity of ultrasound for PTX with and without thyroid surgery (57.0% and 70.9%, respectively) was observed (p = 0.029). Thyroid nodule histology did not have a significant effect on the MIBI scan. Unilateral neck exploration (UNE) was performed in 110 patients and bilateral neck exploration (BNE) in 177 patients. The probability of surgical conversion from UNE to BNE due to incorrect localisation was 1.733 times higher in patients with thyroid nodules. CONCLUSIONS: Concomitant benign thyroid nodules did not influence MIBI sensitivity. No correlation between thyroid carcinoma and MIBI uptake was determined. However, MIBI detection of thyroid malignancy is important in patients initially being considered for minimal invasive parathyroidectomy. Sensitivity and positive predictive value of ultrasound were significantly lower in patients with thyroid nodules. The probability of conversion from UNE to BNE due to incorrect localisation was 1.733 times higher in patients with thyroid nodules.