ACTA ENDOCRINOLOGICA (BUC)

Uncontrolled chronic gout can lead to deposition of monosodium urate crystals, better known as tophi. Such depositions can involve several organ systems, including unusual locations such as the vertebrae. Nevertheless, certain complications, such as hypercalcemia, can arise because of tophi. Despite an aggressive intervention, hypercalcemia might not resolve spontaneously, as long as an ongoing inflammatory process secondary to gouty tophi is taking place. Herein, we present the case of a 62-year-old man with a long history of gouty tophi who presented for back pain and was found to have spinal cord involvement with PTH-independent hypercalcemia which only resolved with pegloticase therapy.

Context. Large variations in thyroid volume (TV) have been reported in Hashimoto’s thyroiditis (HT). The need for long-term levo-thyroxine (L-T4) administration in order to control TV, as well as to normalise thyroid function, has not been well defined. Subjects and Methods. Retrospective data on TV in 94 adult women with HT were analysed in an ambulatory setting in Liguria, an area of moderate iodine sufficiency. TV was evaluated by means of ultrasonography (US). Thyroid function, anthropometric data, smoking habits and pharmaceutical drugs were registered at each examination. Results. At the baseline, an atrophic gland was noted in 16% of the women, and goitre in 13%. The women were evaluated 56 and 102 months after the baseline examination. At the time of each examination, 50%, 78% and 83% of women, respectively, were on L-T4 treatment. Baseline TV was not significantly different in women on/off L-T4 treatment. However, in those on L-T4, TV decreased significantly over the period of follow-up, while in those without L-T4 treatment, it did not change. By the end of the study, the percentage of L-T4-treated women with an atrophic gland had increased to 27%, and that of women with goitre had dropped to 6%; in untreated women, only minor changes were noted. There was a significant negative correlation between TV% change and baseline TSH levels in HT women on L-T4 treatment. Conclusion. The majority of HT women living in an area of moderate iodine sufficiency have normal TV. Moreover, long-term L-T4 treatment can be used to control TV, as well as to maintain normal thyroid parameters.

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Vertebrate nonapeptide neurohormones constitute an evolutionarily conserved family, involved in vital functions, such as hydro-osmotic balance regulation, reproduction and social behaviour. Two human members of this family are known, vasopressin (AVP) and oxytocin (OXT), with their highly homologous genes closely located on Chr 20p13. Presence of vasotocin (AVT) in man has been suggested, but remains controversial, and genetic evidence is lacking. AVT activity could be explained by the presence of a third distinct gene for AVT or an RNA-processing mechanism involving products of AVP and/or OXT genes. To test the first hypothesis, we developed bioinformatics and experimental approaches using genomic DNA and fetal tissues mRNAs. Family-specific primers for AVT and neurophysin were designed based on CODEHOP strategy and used in our experiments. Results of bioinformatics and genomic DNA experiments (family-specific and Alu step-out PCR) suggest there is no evidence for an AVT gene in the genome. RNA-based techniques 3?-RACE and Family-Specific Domain Restriction Fragment RTPCR provided evidence for new transcript species that could code for AVT. Further experiments will be needed to characterize them. We discuss potential mechanisms of AVT mRNA generation based on AVP and OXT mRNAs, by alternative splicing, heterologous transsplicing or RNA-editing. While all methods we developed proved feasible, current results suggest there is no AVT gene in the genome, but specific mRNAs could be present in fetal tissues. Their full characterization may potentially allow identification of vasotocin mRNA and shed light on a subject of fundamental scientific interest.

The development of cancer in humans involves genetic and epigenetic changes that\r\nlead to cell cycle progression, inhibition of apoptosis, cell immortalisation, angiogenesis and\r\nthe ability to metastasise. One signalling pathway common to these events is the activation\r\nof phosphatidylinositol-3-kinase (PI3K) that affects downstream molecules involved in\r\nmalignant transformation. The article reviews the present data on the PI3K signalling, its\r\nderegulation in endocrine tumours, and new therapeutic strategies targeting this pathway in\r\nhuman neoplasia.

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Paragangliomas are rare neuroendocrine slowgrowing tumors, often asymptomatic, that originate from embryonic neural crest cell. In the head and neck area, the most common location is the carotid body, followed, with decreasing frequency, in jugular, tympanic and vagal sites. Bilateral carotid body tumors are extremely rare. Aim. To present the most important features of carotid body paragangliomas, illustrating the clinical characteristics, associated with a thorough analysis of the diagnostic imaging elements, but also the current therapeutic strategies, with respective anatomical, surgical considerations and potential complications that can occur. Surgical resection is the main line of treatment. The complex anatomy of the cervical region and the close relationships of carotid body paragangliomas with carotid vessels and cranial nerves, as well as its intense vascularization makes the surgical intervention a real challenge even for an experienced surgeon. Discussion. Starts from a bilateral carotid paraganglioma in a 35-year-old male, with painless lateral neck swelling, accidentally discovered by his barber about two years ago. Diagnosis was suspected on the basis of history, clinical and radiological findings. “Wait and scan” strategy plus endocrinologic assessment for MEN syndromes were considered the optimal therapeutic approach in this case.

Context. DEXA is recommended for osteoporosis screening. However, the rate of screening with DEXA is very low. Therefore, methods that can be used more easily and cost effectively are needed. Objective. The objective of this study is to develop a clinical risk assessment tool of osteoporosis (OSTEORISKAPP) by using syndromic approach. Design. A methodological study was performed. Subjects and Methods. Three hundred and fiftysix participants who are above 50 years old are participants of study and take history and physical examination. Positive likelihood ratio (LR), pre and post test probability, is calculated. A logistic regression analysis and a ROC analysis are made with the model constructed by those criteria. Results. Eighteen different clinical risk indices are diagnosed. According to LR, 4 of these criteria are minimally effective, 11 of them are weakly effective and 3 of them are medium effective criteria According to results of logistic regression analysis, back pain, waist pain, and usage of cortisone for more than 3 months, vertebra tenderness in physical examination, having dorsal kyphosis and being obese are turned out to be statistically significant in 89.9% confidence interval. AUC is found to be 0.948 and diagnostic test is found to have perfect distinction ability. Conclusion. Syndromic diagnostic criteria that will be used for osteoporosis screening of population and that is cost effective, no need to refer, practical, reliable and has tried to be developed.