ACTA ENDOCRINOLOGICA (BUC)

Introduction. The functions of CD36 membrane receptor include removal of oxidized low-density lipoproteins from\r\nplasma. The aim of our study was to search association between the IVS3-6 C allele and hypercholesterolemia in overweight children.\r\nMaterial and Methods. The study groups comprised 55 Caucasian children with (33) and without hypercholesterolemia (22). Amplicons of exon 4 including\r\nfragments of introns 3 and 4 were studied using denaturing high-performance liquid chromatography (DHPLC).\r\nResults. Polymorphism detected by DHPLC was single nucleotide substitution in intron 3 (IVS3-6 T/C - rs3173798). The IVS3-6 T/C polymorphism is located in the\r\nregion encoding the oxidized LDL binding domain, at a conserved splice site. Total serum cholesterol concentrations were significantly lower in the IVS3-6 TC\r\nheterozygotes than in the TT patients. Furthermore we found tendency (p=0.06) to lower LDL-cholesterol level in IVS3-6 TC heterozygotes than in wild-type homozygotes.\r\nConclusion. The results of our preliminary study suggest that the IVS3-6 C allele of CD36 rs3173798 polymorphism\r\nmay be associated with lower serum total and LDL-cholesterol in overweight children diagnosed with hypercholesterolemia.

A 75 years old woman was referred to abdominal echography for pain related to biliaryduodenal motriceal dysfunction. The ultrasound discovered a dense (hyperechogenic) image under (posterior of) the 8th segment of the liver. The dense process was supposed to be a calcification situated medial from the right kidney in the cranial 1/3 length of it. Specific clinical and biological data related to possible adrenal destruction were analyzed: the patient was in good condition, body mass index was 29. She had no tuberculosis during her life. The current arterial pressure was 145/80 mm Hg. All laboratory data, including basal cortisol were normal. Cortisolemia at 8 a.m. was 523 nmol/l. The diagnosis was made by CT scan: clear and only organ-disseminated calcification in adrenals appeared as a rim. The management of this case was related to follow-up of adrenal lesions by abdominal ultrasound.\r\nThe calcification of one adrenal raised several issues for discussion: the role of ultrasound vs CT in adrenal lesions, the prevalence of calcifications in adrenal glands, the importance of the calcification process. Calcifications of adrenals are seldom found in primary autoimmune cortical atrophy associated with Addison's disease, but they are supposed to be more frequent in adrenal tuberculosis; calcification suggests a former local tuberculosis process, associated with pulmonary tuberculosis and with borderline adrenal insufficiency. Various etiologies and mechanisms for adrenal calcifications (infectious, tumor, hemorrhage, parasitic) are discussed. To our knowledge, the rim-like appearance of the adrenal calcification was described only in one patient. In conclusion, incidental diagnostic of adrenal gland calcifications was reported in patients without adrenal insufficiency, signaled by ultrasound and detailed by CT, associated with normal adrenal function. Therefore, we consider that calcifications in the right adrenal in our patient could mean a process of cicatrisation or healing after an autoimmune aggression, only on the right adrenal gland.

Context. 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. Subjects and Methods. 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. Results. 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. Conclusions. A valid Romanian Sarc-F questionnaire is now available to simply detect patients at risk/no risk of sarcopenia.

Context. Management of neuroendocrine tumors is highly dynamic, in both diagnosis and treatment. Objective. Surgical resection with lymph node approach offers excellent 5-years survival. Design. Between 2008 and 2011 we operated with radical intent 326 lung cancers. Patients and Methods. Cases without lymph node approach were excluded. We found 38 neuroendocrine malignancies: 12 typical carcinoids, 3 atypical carcinoids, 4 large cell neuroendocrine carcinomas (LCNEC) and 10 small-cell lung cancers (SCLC). Limits of the study are: variable lymphadenectomy technique; absence of PET - CT and EBUS-TBNA (EndoBronchial UltraSound - TransBronchial Needle Aspiration) for staging; incomplete data for disease-free survival. Results. We performed 13 pneumonectomies, 22 lobectomies and 3 non-anatomical resections. There were 5 bronchoplasties. The 5-year survival difference between NSCLC (non-small-cell lung cancer - 42.9%) and SCLC (40.53% - one of the best from the literature) is not statistically significant (p=0.4780). Five-years survival was 100% for typical and atypical carcinoids – the best published. We found lymph node metastasis in 2 typical carcinoids, in 2 atypical carcinoids and in 6 SCLCs. Conclusions. For typical and atypical carcinoids, radical resection with lymphadenectomy offers 100% 5-years survival. Early-stage SCLC may benefit from radical resection; lymph node dissection is mandatory because of the well-known precocious lymphatic dissemination.

Context. With the widespread use of neck ultrasound, parathyroid incidentaloma (PI) emerges as an additional opportunity for incidental detection of primary hyperparathyroidism (PHPT). Objective and design. This study aimed to investigate PHPT cases detected by PI and to compare them with other PHPT patients. A retrospective analysis of newly diagnosed PHPT patients between 2014 and 2020 was conducted in our hospital. Subjects and methods. The cohort of 124 subjects was divided in two groups: 22 (17.7%) PHPT patients detected by PI (PI PHPT group) and the rest of 102 PHPT patients (non-PI PHPT group). Overall, 21 PIs were discovered on ultrasound and one was found during thyroid surgery. Clinical features, work-up and management of two study groups were compared. Results. The PI PHPT group had lower ionized calcium at diagnosis (p=0.034), lower peak serum calcium during follow-up (p<0.01), less fractures (p=0.022) and was less likely to meet the international criteria for parathyroidectomy (p<0.01). Positive sestamibi scan (p=0.022) and confirmed concordant localization in at least two different parathyroid imaging techniques (p=0.033) were more likely in the PI PHPT group. The frequency of surgical management did not differ between groups. Conclusions. PHPT detected by PI is clinically relevant and mostly comparable to PHPT in other patients with some features that correspond more often to a mild disease. Higher rate of positive preoperative localization in PHPT detected by PI might encourage parathyroidectomy even without the international criteria met.

We describe one case of sellar and suprasellar chordoma found in a 44 year old female, with bitemporal hemianopsia and secondary amenorrhea, submitted to transfrontal surgery and telecobaltotherapy. Chordomas are slow growing neoplasms arising from notochordal remnants of the axial skeleton. The second most common site for chordomas, after the sacrococcygeal region, is the base of the skull. Skull base chordomas commonly result in cranial nerve deficits, such as blurred vision, facial weakness and swallowing difficulty. Occasionally, chordomas localized in the hypothalamic or pituitary region may lead to pituitary stalk disjunction, pituitary insufficiency and diabetes insipidus. Studies show that early diagnosis, combined with aggressive surgical resection, offers the best chance for long-term survival. Although optimal treatment consists of wide excision with adjuvant radiotherapy, skull base chordomas are rarely amenable to complete surgical removal. Traditionally, postoperative irradiation is delivered to doses of 6000-6500 cGy; however this approach controls the chordoma only for a few years. Prognosis depends on the histological grade of the tumor, atypical chordomas showing the lowest survival rate.

Background Supplementation of Lcarnitine is associated with improvement in some abnormalities present in hemodialysis (HD) patients. Objective. The study aim was to analyze the effect of oral L-carnitine supplementation on endothelial dysfunction (ED), oxidative stress (OS), inflammation and anemia in HD patients. Design. A prospective, longitudinal and observational study was performed in a single dialysis unit. Subjects and methods.We studied 31 HD patients: 21 patients formed the Lcarnitine supplementation group (group 1) and 10 entered the control group (group 2). At baseline and after 3 months of L-carnitine supplementation (500mg/day) we determined endothelial-dependent flow-mediated vasodilatation (FMD) and nitroglycerin induced endothelium independent vasodilatation, involving ultrasonographic brachial artery measurements, serum visfatin, malondialdehyde, body mass index, systolic blood pressure, diastolic blood pressure, interdialytic body weight gain, C-reactive protein, albumin, cholesterol, HDL-cholesterol, LDL-cholesterol, triglycerides, ferritin, transferrin saturation, hemoglobin, erythropoietin dose, calcium (Ca), phosphorus (P), parathormone and Kt/V . Results. In group 1, FMD (8.9 (4.5-12.5) to 10.6 (6.7-18), p=0.04) and Ca (8.4±0.6 to 8.8±0.5 mg/dL, p<0.001) significantly increased after L-carnitine supplementation, while visfatin (1.0 (0.2-1.3) to 0.4 (0-0.9) pg/mL, p=0.03), malondialdehyde (2.8 (2.4- 3.2) to 1.3 (1.2-1.5) nmol/mL, p<0.001) and P (5.6±1.3 to 5.0±1.2 mg/dL, p=0.005) significantly decreased. Albumin increased significantly in both groups (3.9±0.3 to 4.2±0.3 mg/dL, p<0.001 in group 1 and 3.7±0.3 to 4.0±0.3 mg/dL, p=0.02 in group 2). There were no other significant variations of the studied parameters. Conclusions. L-carnitine supplementation reduces ED, visfatin levels and markers of OS, but has no effect on inflammation, nutrition and anemia in HD patients.

Aims. Earlier studies suggested that patients with nonfunctioning pituitary adenoma (NFPA) experience premature mortality, mostly from vascular diseases. The present study aims to identify risk factors associated with mortality in patients with NFPA. Methods. All consecutive patients admitted to a tertiary neuroendocrinology center for pituitary adenoma during 2001-2010 were screened. Only those with a final diagnostic of NFPA were retained. All 196 NFPA subjects (57.7% males, mean age 52.7±0.9 years) were followed-up for allcause mortality until December 31, 2011 (1298 person-years of follow-up). PAMCOMP software was used to calculate standardized mortality ratio (SMR), using the corresponding general population as reference. Cox regression analysis evaluated the independent hazards for mortality. Results. There were 26 deaths among 196 patients as compared to 20 expected. Standard Mortality Ratio (SMR) was 1.2 (95% Confidence interval (CI) 0.83-1.86). Females had a doubled mortality ratio: SMR 2.03 (95%CI 1.01-3.64), but males had a mortality ratio similar with general population: SMR 0.87 (95%CI 0.48-1.44). More patients with hypopituitarism for at least one axis deceased (22/156, 14.10%), as compared with patients without pituitary failure (1/22 patient deceased –2.07%), p=0.03. Prednison replacement for corticotrophin insufficiency (HR 1.46 (95%CI 1.12-1.90)) was correlated to mortality in females, but not in males, and mortality rose progressively with prednison dose (log rank: p=0.01). In males, last known maximal pituitary tumour diameter (HR 1.04 (95%CI 1.001-1.08) and age at baseline (HR 1.1 (95%CI 1.05-1.1) were modestly related to mortality. Conclusions. Females with nonfunctioning pituitary adenomas and hypopituitarism had a reduced life expectancy as compared with general population, possibly related to glucocorticoid substitution or a more severe pituitary insufficiency.

Calciphylaxis, also known as calcific uremic arteriolopathy (CUA), is usually observed in women and it is a serious complication of hyperparathyroidism secondary to chronic renal failure. CUA is characterized by ischemic tissue loss secondary to progressive vascular degeneration. Although it is rare, it may end up with sepsis and organ failure and can be fatal. Its pathogenesis is not fully understood, but it is thought that it occurs secondary to increased calcification activators such as oxidized LDL, TNF- α, calcitriol, fibronectin, collagen-I, and TGF-1α. The most effective treatment is managing underlying pathology and decreasing serum calcium and phosphorus levels. In this report, we aimed to present an end stage renal failure case with coexisting hyperparathyroidism, hyperthyroidism and calciphylaxis in whom cutaneous manifestations were healed 6 months after parathyroidectomy.

Objective. Highly active antiretroviral therapy (HAART) is involved in the potential pathogenic mechanisms linking thyroid autoimmunity with immune restoration. The objective is to emphasize the emergence of autoimmune thyroid disease in a HIV patient long period after restoration of immune competence, unlinked to the immune reconstitution inflammatory syndrome (IRIS) occurring shortly after HAART initiation. We report a case of acute autoimmune thyroiditis with thyrotoxicosis in a patient with stage C3 HIV infection, who had been under HAART for more than 7 years. From the beginning there was a good immune response to the regimen, due to a good adherence and compliance (over 90%). Nine months after HAART initiation the viral load was undetectable (under 34 copies/μL) and the CD4 count reached 645 cells/mm3 (within normal range) after one year of treatment. Eight years after HAART initiation, based on clinical and laboratory findings, autoimmune thyroiditis was diagnosed. At this time immune competence with a normal CD4 count and a CD4/CD8 ratio over 1 was achieved. The chronic inflammation status of an HIV infection is the reason that autoimmunity appears outside the IRIS period. Treatment was initiated with antithyroid drugs. Thyroid function should be monitored periodically in HIV patients undergoing HAART. Future observations must be made for HIV related thyroid disorders using new classifications and studies with a larger number of patients.