• Ray Hubbard opublikował 5 miesięcy, 2 tygodnie temu

    5% sensitivity and 90.7% specificity while with a PTH decline of 40.8% hypocalcemia can be diagnosed with a 83.9% sensitivity and 52% specificity.

    Postoperative second hour PTH and PTH percentage decline can predict postoperative hypocalcemia in total thyroidectomies. Preoperative Dual-energy X-ray absorptiometry (DXA) was not found useful in hypocalcemia prediction.

    Postoperative second hour PTH and PTH percentage decline can predict postoperative hypocalcemia in total thyroidectomies. Preoperative Dual-energy X-ray absorptiometry (DXA) was not found useful in hypocalcemia prediction.Sotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper limit of normal. In this case report, a 6-year and 10-month old boy who presented with Sotos syndrome was described. He also had increased testicular volumes with advanced bone age. The stimulated levels of gonadotropins revealed central precocious puberty and brain magnetic resonance imaging (MRI) showed a pineal cyst. A heterozygous duplication variant [NM_022455.4c.4560dup; p.(His1521Thrfs*9)] in the NSD1 was identified. Triptorelin acetate treatment was started. The aim was to report the novel duplication variant in the NSD-1 in a patient with Sotos syndrome accompanied by a pineal cyst and central precocious puberty, and also to discuss the rationale for treating precocious puberty.

    Isolated methylmalonic acidemia refers to a group of inborn errors of metabolism characterized by elevated methylmalonic acid concentrations in the blood and urine. It occurs in approximately one to three out of every 100 thousand Chinese newborns. Mutations in the MMAA gene cause isolated methylmalonic acidemia.

    A 13-month-old boy was diagnosed with isolated methylmalonic acidemia. We identified two mutations in the MMAA gene in this case c.491G>A and c.650T>A. The c.491G>A is a novel mutation in the MMAA gene. The boy is a heterozygous carrier of both mutations. The boy was treated with intravenous sodium benzoate and fluids. His sensorium gradually improved and he recovered from the acute illness. Other family members are heterozygous carriers of either mutations but with no symptoms.

    We identified a novel c.491G>A mutation in the MMAA gene. Heterozygous carriers of both c.491G>A and c.650T>A mutations are associated with isolated methylmalonic acidemia.

    A mutations are associated with isolated methylmalonic acidemia.Anaplastic thyroid cancer (ATC) is a highly uncommon (less than 2% of thyroid malignancies) and aggressive type of cancer, with aggressive behavior and, therefore, exhibiting poor prognosis. ATC tumors are automatically labeled as stage IV disease regardless of standard criteria such as tumor burden or metastasis. ATC tumors require a diversified treatment approach that includes surgical resection, followed by a complete an aggressive combination of radiation and chemotherapy and/or palliative care. Despite best efforts, 1-year overall survival of patients is 20% to 40% with nearly universal mortality rate. Consequently, novel approaches (targeted therapy, immunotherapy) have been studied, alone or in combination, to improve the dire prognosis of these patients. BRAF V600E mutation is the most common genetic mutation found in ATC. We report the case of a 57-year-old man diagnosed with stage IVc (undifferentiated) ATC with hepatic and osseous metastases. The molecular analysis of the tumor revealed a V600E BRAF-mutation. The patient was treated with Dabrafenib and Trametinib, and achieved remission 5 weeks after starting the treatment. Subsequently, he had a thyroidectomy, and pembrolizumab was added to the two tyrosine kinase inhibitors. 9 months later he is still in remission. This case illustrates the importance of obtaining molecular information in anaplastic thyroid cancer and the urgent need of studies investigating the combination of tyrosine kinase inhibitors and check-point inhibitors in patients with V600E BRAF- mutations.An 81-year-old woman presented with a history of essential hypertension for eight years and an asymptomatic multinodular goiter that had been incidentally discovered on neck ultrasonography two years ago and an-isohypoechoic mass lesion located adjacent to the right lobe inferior pole of the thyroid gland. Parathyroid adenoma or lymphadenopathy were the differential diagnosis. After two years, the endocrine surgeon decided to operate her multinodular goiter and her probably benign lesion. Intraoperatively, the blood pressure and pulse rate increased markedly and intravenous antihypertensive treatment was administered. She was discharged after blood pressure control. A 2 mm micromedullary thyroid carcinoma with C-cell hyperplasia located on the left lobe of the thyroid was detected. The aforementioned mass lesion was also reported as typical cervical paraganglioma. Because of concomitant medullary thyroid carcinoma with C-cell hyperplasia and paraganglioma the patient was subjected to genetic counseling and molecular testing for hereditary cancer syndromes. A variation of the succinate dehydrogenase gene D (SDHD) NM_003002.3 c.325C> T (Gln109Term) has been reported as the disease-causing mutation. Herein we present a case diagnosed for neck paraganglioma and medullary thyroid carcinoma after an intraoperative hypertensive crisis.

    The aim of the present study was to systematically review the effects of Realsil (silybin-phospholipid-vitamin E complex) on liver enzymes in patients with NAFLD or NASH.

    We searched Web of Science, MEDLINE, Google Scholar, Cochrane Library, Science Direct, ProQuest, Scopus, and 1868 articles were found up to December 2018. Four studies that examined the effect of Realsil intake on liver enzymes among NAFLD or NASH patients were included. Exclusion criteria include animal studies, studies with the design other than clinical trials, studies on non-adult individuals, studies that assess the effect of vitamin E, silybin, or phospholipid solely, studies that examined the effect of Realsil on other outcomes, or studies with insufficient data.

    The analysis demonstrated that Realsil intake led to a significant decrease in Gamma-Glutamyl Transpeptidase (GGT) levels (standardized mean difference (SMD) =-0.37; 95% confidence interval (CI]) -0.68 to -0.06). Realsil intake non-significantly decrease alanine transaminase (ALT) levels (SMD=-1.02 U/L; 95% CI -2.23 to 0.20) and non-significantly increase aspartate aminotransferase (AST) levels (SMD = 0.17 U/L; 95% CI -0.26-0.61).

    Realsil intake was associated with a significantly decreased circulating GGT level without any significant effect on AST and ALT levels.

    Realsil intake was associated with a significantly decreased circulating GGT level without any significant effect on AST and ALT levels.

    Several studies have addressed the impact of sarcopenia on various health outcomes. As the most critical issue is the early identification of individuals, a short screening tool may help clinicians to simply test for sarcopenia and start early management of the disease. Recently, a simple questionnaire, Sarc-F was provided that may adequately realize this aim.

    To validate the questionnaire we translated the original Sarc-F according to the recommended methodology. A total of 80 people, aged 65+ were evaluated for sarcopenia. Muscle mass, strength, and physical performance were measured. Volunteers completed the Sarc-F as well as other two questionnaires. Discriminative power, reliability, construct validity analyses, specificity, sensitivity, negative and positive predictive value evaluations were made.

    A good discriminative power and internal consistency were found. With the functional sarcopenia diagnostic criteria the test demonstrates a high specificity (84%). The positive and negative predictive values were 78% and 77%. Using the more conservative diagnostic criteria the negative predictive value was 85.4%, sufficient to rule out those not at risk of having sarcopenia and eliminate the need for further investigations.

    A valid Romanian Sarc-F questionnaire is now available to simply detect patients at risk/no risk of sarcopenia.

    A valid Romanian Sarc-F questionnaire is now available to simply detect patients at risk/no risk of sarcopenia.

    Incidentally discovered solid adrenal tumors must be evaluated from two points of view the risk of malignancy and the secretory feature.

    Our aim was to evaluate the surgical technique option in relation with clinical and histopathologic features.

    We performed a retrospective study that included patients with adrenal gland tumors.

    All patients were operated between 2012 and 2019 by the same surgical team in a single center.

    The batch included 102 patients with adrenal tumors operated through open surgery (OS, n=41) and laparoscopic surgery (LS, n=61). Tumor localization was especially on the right adrenal gland (n=52, 50.98%). Primary origin of the adrenal gland tumors was in 82 cases (80.39%) and a metastatic origin in 16 cases. Average dimension for surgical resected tumors was 4.02 cm (0.9-12 cm) for the LS group as compared to 7.22 cm (1.3-19 cm) for OS group with a predominant type of surgery represented by adrenalectomy and a conversion rate of 2.94%. The hospital stay was 7.22 days (5-12 days) in the LS group

    12.72 days (6-57 days) in OS group with significant differences (p<0.01). Also, the postoperative recovery was significantly different (6.5 days

    2.62 days, p<0.01).

    Laparoscopic approach represents the gold standard in adrenal gland tumors less than five centimeters in size. Adrenalectomy is mostly performed by LS and adenoma is the most frequent histopathologic type, while pheochromocytoma is operated through OS. LS has a significantly reduced hospitalization and postoperative stay compared to OS.

    Laparoscopic approach represents the gold standard in adrenal gland tumors less than five centimeters in size. Adrenalectomy is mostly performed by LS and adenoma is the most frequent histopathologic type, while pheochromocytoma is operated through OS. LS has a significantly reduced hospitalization and postoperative stay compared to OS.

    The present study aimed to introduce a new formula for classification of nodules in TI-RADS and describe ultrasonography features of benign and malignant thyroid nodules.

    This study was conducted on thyroid mass in 1033 patients. The incidence of malignancy for thyroid nodules was determined by selecting malignancy coefficients. Then the patients were first classified using conventional TI-RADS classification criteria and once again according to a new proposed formula.

    Among ultrasonography features of thyroid nodules, the irregular shape (46.7%), unclear margin (47.3%), extension to the capsule (irregular and infiltrative margin) (85%), the marked hypo-echoic nodules (63.8%), micro-calcification (49%), and to have vertical axis (74.0%) were associated with high incidence of malignancy.

    According to the proposed new formula for TI-RADS, there are four coefficients of 7, 3, 1 and 0 for incidence of malignancy of each one of ultrasound findings that help to standardization and unifying of TI-RADS classification.

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