ACTA ENDOCRINOLOGICA (BUC)

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Background. Oncogenic osteomalacia (OOM) is a rare syndrome caused by a tumor that produces a phosphaturic factor: fibroblast growth factor 23 (FGF23). These tumors can be extremely difficult to localize because they are small, slow growing and cause no local symptoms.\r\nPatient and methods: Venous sampling for detection of a gradient of FGF23 has been used to limit the area of further\r\nimaging. We describe a case of OOM in a 73-year old woman, with two years of spontaneous fractures, severe musculoskeletal pain and phosphate wasting.\r\nResults: Her serum FGF23 level was increased and whole-body intravenous sampling (11 sites) revealed a FGF23 gradient\r\nfrom the right leg. The second sampling indicated that the source of FGF23 was below the knee, but imaging studies, including magnetic resonance imaging and octreotide scintigraphy, were not conclusive. A third sampling demonstrated increasing FGF23 the more distal one came in the lower leg. Imaging of the forefoot finally identified a 10 mm tumor that was removed. Histopathological examination showed a phosphaturic mesenchymal tumor of mixed connective\r\ntissue type. The phosphate level and symptoms improved in days after surgery.\r\nConclusion: Repeated determinations of a venous gradient of FGF23 may be used to localize tumors of OOM.

Background. The use of nutrient supplements along with medication to optimize the treatment of diseases yields desirable outcomes. Hypothyroidism causes abnormalities in cells, and organs, and induces gene expression changes. The use of salt supplements and vitamins considerably helps to treat hypothyroidism. Objectives. To evaluate the effect of a food supplement containing iron, iodine, and folic acid on thyroid hormones changes as well as the quality and quantity of hypothyroid female rat’s offspring. Materials and Methods. In the current experimental study, 40 female rats were divided into six experimental and two control groups. The study was conducted in three phases. In the first phase, the role of a combinatory supplement along with levothyroxine to treat hypothyroidism by assessing T3, T4, and TSH hormones was investigated. In the second phase, the dose-depended effects of a combinatory supplement were investigated. Additionally, in the third phase, the quality and quantity of the next generation were measured in the hypothyroid female rats receiving the salt supplement. Results. The plasma level of T3, T4 and TSH in hypothyroid rats receiving nutrient supplements indicated that the use of combinatory supplements along with levothyroxine could have desirable effects on the treatment of hypothyroidism to such an extent that the level of T3 and T4 hormones in the intervention group was significantly higher than that of the control group (P≤0.01). The second phase demonstrated that the desired effects of combinatory supplements on the serum levels of T3, T4, and TSH hormones were dose-dependent so that by increasing the dosage of supplementation, a significant decrease in the TSH level was observed (P <0.05), while T3 and T4 levels increased (P <0.01). The results of the third phase demonstrated that salt supplements could be effective in reducing the number of dead or preterm pups, and the use of mineral salts along with levothyroxine could promote a healthy birth. Conclusion. Salt supplements have considerable effects on the health status of the offspring of hypothyroid rats, resulting in the birth of more healthy pups and reducing the rate of abortion or preterm births.

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Context. Hyperparathyroidism-jaw tumour (HPTJT) syndrome is a rare autosomal dominant cause of familial hyperparathyroidism associated with ossifying fibromas (OF) of the maxillofacial bones and increased risk of parathyroid carcinoma, caused by inactivating germline mutation of the cell division cycle 73 (CDC73) gene. Objective. To report the first Romanian family with HPT-JT and genetic screening of CDC73 gene. Subjects and Methods. Mutational analysis of the CDC73 gene and genetic screening of the family of a proband with HPT-JT. Histological diagnosis of parathyroid tumors (WHO criteria) and immunohistochemistry (parafibromin) were performed. Results. Three of the six screened family members had evidence of PHPT and surgically proven parathyroid tumours. Two of the three affected members had parathyroid carcinomas and one had two parathyroid adenomas. Genetic screening of CDC73 gene revealed that 4 of 6 patients showed a heterozygous germline deletion of one nucleotide: c.128-IVS1+1 delG. All the three affected patients, resulted to be carriers of the CDC73 mutation, but each one bearing a different CDC73 polymorphism. Conclusions. We identified a new CDC73 germline mutation in a Romanian family of HPT-JT. Analysis of clinical phenotypes in the four mutated individuals confirmed the incomplete penetrance and the variable clinical expression of the disease.

Background. People chew betel nut (Areca catechu) for physical work and stress reduction, but it contains arecoline, which has both therapeutic value and untoward effects on endocrine and gonadal functions. Objective. Aim of the present study is to investigate its role on adrenal with its target in metabolic stress in mice. Materials and methods. Mice were deprived of water / food, each for 5 days / treated with arecoline (10 mg / kg body wt daily for 5 days) / arecoline after water or food deprivation, for 5 days each. Results. Water or food-deprivation caused adrenocortical hyperactivity, evident from abundance of enlarged mitochondria and smooth endoplasmic reticulum (SER) with elevation of corticosterone level (C: 68.31 ± 2.30, WD: 159.31 ± 4.10 / FD: 194.12 ± 3.40 μg/ mL). Arecoline treatment alone or in water deprivation (C: 68.31 ± 2.30, AR: 144.50 ± 4.33, AR+WD: 194.42 ± 3.35 μg/ mL) / food deprivation (AR + FD: 180.89 ± 4.51 μg/ mL) stress also stimulated adrenocortical activity as recorded in metabolic stress. In contrast, adrenomedullary activity was not altered following water/ food deprivation. Arecoline treatment alone or in metabolic stress suppressed adrenomedullary activity by showing depletion of chromaffin granules (E/NE?), epinephrine (E) and norepinephrine (NE) concentrations. Both the stress decreased blood glucose and liver glycogen levels. Arecoline treatment decreased blood glucose level, with a rise in liver glycogen level, but elevated blood glucose level in water deprivation unlike in starvation. Conclusion. Arecoline alone or in metabolic stress involves adrenal and probably other endocrine glands (pancreas, posterior pituitary and rennin-angiotensin system) to maintain homeostasis in metabolic stress in mice.

Gastrointestinal effects of estrogens are emerging as an important topic in colorectal cancer management. Current research demonstrated the link between inflammation and this malignancy, so important estrogen dependent mediators of the inflammatory response have been identified. Radioresistance and chemoresistance still represent an important cause of therapeutic failure in colorectal cancer and lead to further studies of colorectal carcinogenesis and predictive markers.

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Background. Prevention of complications is widely considered as the main aim of diabetes control. And diabetes education is the cornerstone for type 2 diabetes (T2D) management. However, traditional lecture-based diabetes patient education activities have small and shortlasting efficacy. Therefore, technology-based initiatives for diabetes patient education are urgently required. Objective. To evaluate Guessing, a popular game, as tool in increasing complication awareness of patients with newly diagnosed T2D during diabetes care. Patients and Methods. In a cohort study, 103 patients were split into Guessing Game group and control group. The opinions of patients and educators in Guessing Game group were surveyed. Patient performance was evaluated by test scores and the attendance to diabetes complication screening clinic. Results. A majority of patients and all educators believed that Guessing Game enhanced complication awareness. Educatees achieved higher total scores and test scores in “Fill in the Gaps” (one of 2 types of test item), more actively attended complication screening clinic, after using Guessing Game as an education tool. Conclusion. Guessing Game is an attractive and effective educational intervention to increase complication awareness of T2D patients.