ACTA ENDOCRINOLOGICA (BUC)

Background: The solitary benign thyroid nodules represent one of the most common\r\nabnormalities affecting the thyroid gland. The appearance of solitary thyroid nodules is\r\nvariable and all the patients should be assessed as soon as possible in order to establish the\r\nbenign nature of the lesion and to rule-out malignancy.\r\nThe aim of the present study is to show the histological changes that appear during\r\nevolution of benign solitary thyroid nodules and rapid growing rate along 6 years, in 71\r\npatients (65 women and 6 men).\r\nMethods: All cases were evaluated by clinical, ultrasound, biochemical (at every 6\r\nmonths) and FNA (initially and repeated between 10 months and 4 years afterwards); 26 out\r\nof 71 presented, along evolution, an increase of thyroid nodule (24 women and 2 men) from\r\n1.77 cm diameter (1.4-2 cm) to more than 2.5 cm (2.5-4.3 cm), therefore a radical surgical\r\nattitude was performed.\r\nResults: Histological postsurgery data showed degenerative changes in all cases, with\r\nrepetitive nodular hemorrhage (26 cases), sclerohyalinisation of the interfollicular stroma (4\r\ncases), cholesteatoma (5 cases) and inflammatory infiltrate (8 cases).\r\nIn conclusion, the significant growth of a benign solitary nodule is determined by\r\nrepetitive hemorrhages in the thyroid tissue. The associated sclerosis induces changes in the\r\nnodular firmness and might trigger the thyroid surgery.

Background. Sweet's syndrome (SS) or acute febrile neutrophilic dermatosis is a dermatological illness that can be described by tender erythematous plaques or nodules and acute onset fever. The etiology is multifactorial and is not fully understood. SS is separated in three subclasses: classical, malignancy-associated, and drug-induced. It was shown that this syndrome can reveal an underlying hematological or solid malignancy. Case presentation. We report the case of a 55-yearold female patient referred to the Urology department for management of pheochromocytoma in the right adrenal gland, revealed by abdominal imaging in another medical unit during the evaluation and diagnosis of multiple mucocutaneous lesions, characterized by erythematousviolaceous plaques and nodules, and painful aphthous ulcers of the tongue. The eruption of each lesion was preceded by low-grade fever and chills. The hormonal profile highlighted the presence of elevated normetanephrines. We performed 3D laparoscopic transperitoneal right adrenalectomy after preoperative treatment with alpha blocker therapy. The clinical outcome was favourable, given that the cutaneous lesions started to heal after the surgery. Conclusions. Sweet’s syndrome in association with pheochromocytoma is a very rare condition, only few cases were described in literature to our knowledge. The multidisciplinary collaboration is extremely important in the management of such cases.

We report on a 4-years old girl with mosaic Turner karyotype: 45X/46XX (10% the 45,X line, 90% 46,XX line) / karyotype performed by the classical method and direct FISH (centromeres X and Y on buccal smears). As turnerian manifestations she presented short stature (more than –2 SD), mental retardation and slightly webbed neck. The most clinical manifestations were suggestive for the Kabuki syndrome, i.e.: -peculiar facies: very long palpebral fissures, arching of the eyebrows, short nasal septum, cleft palate, open mouth; -ventricular septal defect, left renal agenesis, dislocated hip on the left side. We present shortly the Kabuki and Turner syndromes and discuss the relationship between them.

Aim. There is no data for platelet distribution width (PDW) levels as a marker of platelet activation in patients with\r\nmetabolic syndrome (MetS). The present study tested the hypothesis that PDW levels may be elevated in MetS patients. Based on this hypothesis, PDW levels in patients with MetS were compared with those of patients without MetS. The relation between PDW levels and cardiometabolic risk factors was also evaluated.\r\nMaterials and Methods. Two hundred and nineteen non-diabetic MetS patients (MetS group; 155 females, 64 males) and 155 non-diabetic patients without MetS (Control group; 123 females, 32 males) were included consecutively. The primary endpoint of the study was to compare the PDW levels between the groups, while the secondary endpoint was to evaluate the relationship between PDW and cardiometabolic risk factors.\r\nResults. PDW levels were 16.75?1.73%, and 16.89?1.92% in MetS patients and control subjects, respectively (p>0.05). In correlation analysis, insulin and homeostasis model assessment of insulin resistance (HOMA-IR) (r:0.193, p:0.004, and r:0.215, p:0.001, respectively) were associated with the PDW.\r\nConclusion. Although there is a weak positive correlation between PDW and insulin and HOMA-IR, these findings do\r\nnot support our hypothesis that PDW levels may be elevated in MetS patients.

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

Introduction. Primary osteoporosis during childhood and adolescence represents an uncommon condition, and secondary forms are more likely to manifest at this age due to chronic disease and adverse effects of medical treatment. Case report. The authors report the case of a young male patient with a history of multiple idiopathic nonvertebral fragility fractures in addition to a family history of maternal osteoporosis and fracture, in whom osteoporosis was confirmed according to 2013 International Society for Clinical Densitometry (ISCD) criteria. Bone markers indicated low bone formation marker osteocalcin. Genetic testing revealed homozygosity for Sp1 COL1A1 gene polymorphism in combination to Fok-I vitamin D receptor (VDR) heterozygous polymorphism, to contribute to low bone mass and increased fracture risk. Severe premenopausal osteoporosis was present in the patient’s mother, who was also tested positive for both gene polymorphisms. Conclusion. This case report highlights the association between COL1A1 and VDR candidate gene polymorphisms and fragility fractures in a family. Individual genetic testing might be of clinical value in idiopathic osteoporosis in young patients, identifying subjects at increased fracture risk.

Context. Spontaneous muscle infarction is a rare complication of diabetes mellitus, mainly affecting women and patients with long-lasting type 1 diabetes. Objective. This report is aimed to describe the case of a patient with type 1 diabetes and diabetic nephropathy in whom a severe deterioration of renal function was triggered by a muscle infarction. Subject and Methods. Subject of the study was a 33-years-old woman with an 18 years history of type 1 diabetes mellitus, proliferative diabetic retinopathy, nephropathy at stage 3 chronic kidney disease, somatic sensory-motor polyneuropathy and autonomic neuropathy. Results. The patient presented with severe pain and dysfunction of the left thigh without prior trauma plus progressive deterioration of the renal function. Nuclear magnetic resonance of the thigh showed inflammatory changes in the external vastus with hyperintensity on T2 sequence and edema of the subcutaneous cellular tissue. After other possible etiologies were ruled out, a clinical diagnosis of spontaneous muscle infarction was established. The patient needed hospital admission for two months, during which the renal function worsened until she required hemodialysis. No other possible triggers of kidney injury were identified. Conclusions. Up to our knowledge, this is the first described case where muscle infarction is suspected to have caused exacerbation of an existing chronic kidney failure. Monitoring the renal function should be considered in patients with diabetic nephropathy presenting with this rare complication of diabetes.

Iodine plays an important biochemical role in human organism; its insufficiency produces disturbances in the synthesis of thyroid hormones and increases the volume of the thyroid gland. Iodine deficiency in pregnant women has severe consequences on maternal\r\nbody and fetal development. The aim of this study was to determine the incidence of iodine deficiency in pregnant women from Cluj city and county. Urinary iodine levels were determined by the Sandell-Kolthoff method. A group of 100 pregnant women was studied. The results show a mean iodine concentration at the lower limit of the normal range (107.58 ? 91.16 μg/L), not correlated with the period of pregnancy.