ACTA ENDOCRINOLOGICA (BUC)

Objective. To compare two chromatographic methodologies for determination of plasma phenylalanine (Phe) and their usefulness for diagnosing hyperphenylalaninemia (HPA) and phenylketonuria (PKU). Methods. The plasma amino acids were isolated and concentrated from blood collected from infants with HPA detected by newborn screening. The plasma Phe was determined in parallel by HPLC and by image-densitometry of 2D-TLC plates. Results. Typical examples of 2D-TLC plates and HPLC chromatograms from infants with HPA and PKU are presented and evaluated. The Phe spot was visible on 2D - TLC plates at Phe concentrations higher than 300 μmol/L. The standard calibration curve traced after imagedensitometry of the Phe spot presented high dispersion of values at each concentration of Phe, high SD values, the equation of the curve having a low R-squared value (0.862). In contrast, the standard calibration curve obtained by HPLC shows linearity on the range of concentrations from 100 - 16,000 μmol/L, extremely small SD values, the equation of the curve has a very high R-squared value (0.999). Conclusions. The HPLC methodology is appropriate to confirm HPA detected by newborn or selective screening of PKU. The 2D - TLC methodology is adequate to detect patients with severe PKU.

Bronchial carcinoid tumours (typical and atypical carcinoid) are endobronchial tumours that can benefit from both local endobronchial treatment and surgical treatment. Given their relatively good prognosis compared to the other two forms of pulmonary neuroendocrine tumours, there is a current concern about the implications of lymph node involvement as well as the identification of new prognostic factors to shape the treatment of these patients in the future.

Aim: to evaluate the type of surgery performed in pulmonary carcinoids.\r\nMethods. Retrospective study on database of 2282 cases of surgical patients operated\r\nin the Clinic of Thoracic Surgery between 1994 and 2004, in which 92 cases of bronchopulmonary\r\ncarcinoid tumors were included, representing 4% of lung cancers. From these 92\r\ncases, 32 were typical and 60 were atypical carcinoids, 29 women and 63 men.\r\nResults. The mean age was 39.2?18 for typical carcinoid and 51.9?13 for atypical\r\ncarcinoid. More than half of the carcinoid tumors were in 1B stage - 48 cases; the rest of the\r\ntumors were staged as: stage 3A - 20 cases, stage 2B - 12 cases, stage 4 - 5 cases, stage 3B\r\n- 4 cases and stage 1A - 3 cases.\r\nAs surgical interventions, there were performed: 63 classical lung resections, 23\r\nbronchoplastic lung resections, 5 bronchial resections without lung parenchyma and 2\r\nbiopsies: 1 lung biopsy by video-assisted thoracoscopic surgery and 1 pleural biopsy by\r\nthoracoscopy. In 9 cases of atypical carcinoids, associated surgical procedures were\r\nimposed by the tumoral extension or by the associated disorders.\r\nConclusions. The bronchoplastic and bronchoanastomotic procedures have the major\r\nrole of preserving the most of the functional pulmonary parenchyma in case of low-grade\r\nmalignancies, such as carcinoid tumors. Along the pulmonary resection, the authors consider\r\nthat mediastinal lymphadenectomy is mandatory, even in case of typical carcinoid tumors.

Introduction. Over the past decades, several definitions and classifications of cervico-mediastinal goiters have been proposed. We analyzed and discussed the clinical presentation, the diagnostic procedures and the surgical technique in relation to post-operative complications and long-term results in a case of a sixtysix years old obese, hypertensive female admitted in the Thoracic Surgery Department with respiratory distress (inspiratory dyspnea, stridor) progressively aggravating during the latest month. Methods. Cervico-thoracic CT scan revealed the existence of a cervico-mediastinal huge goiter which developed mostly intrathoracic (2/ 3 of the goiter). It determined a tracheal compression, reducing its caliber by two thirds, and its displacement to the right side. The proposed surgical procedure was total thyroidectomy and it involved a bipolar approach (transcervical and transsternal) through a partial upper cervico-sternotomy. Results. The complete removal of the goiter and the decompression of the trachea have been achieved. Postoperative results were very satisfactory, with the absence of the respiratory distress. The histological examination revealed a multinodular goiter with epithelium hyperplasia. Conclusion. The presence of a complicated cervico-mediastinal goiter with severe respiratory distress required a surgical excision as the main and immediate treatment option. The surgical procedure represented a milestone for both the anesthesiologist (difficult intubation, with a thin tracheal tube in the absence of the jet ventilation technology) and for the surgeon. The goiter’s excision from the visceral mediastinum was very difficult because of its huge dimensions and close relations with trachea and great vessels (anterior) and esophagus, erector spinal muscles and the spine (posterior).

Context. Nonalcoholic fatty liver disease is common in type 2 diabetes mellitus patients, being difficult to diagnose. Objective. To find a correlation between elastographic parameters and lab results, for facilitating the diagnosis of nonalcoholic fatty liver disease. Design. This is a cross sectional study, conducted at the Departments of Diabetes, Nutrition and Metabolic Diseases, and Gastroenterology and Hepatology, of the Clinical Emergency Hospital “Pius Brinzeu” Timisoara. Subjects and Methods. We included 190 type 2 diabetes mellitus patients, collected data regarding medical history, clinical and biological features and applied the Alcohol Use Disorders Identification Test. We excluded patients with other causes of liver disease. Liver steatosis and fibrosis were evaluated through transient elastography, yielding two parameters: liver stiffness as an indicator of liver fibrosis stage, expressed in kPa, and liver steatosis stage, assessed by controlled attenuation parameter, expressed in dB/m. Data were analyzed using SPSS 15. Results. The analyzed group comprised 113 patients. Elastographic measurements showed that 93.8% of the patients had steatosis (controlled attenuation parameter ≥232.5 dB/m) and 70.8% severe steatosis (controlled attenuation parameter ≥290 dB/m). Severe steatosis was more common in women (75.7%) than in men (68.1%) (p<0.0001). From the patients with steatosis, 47.2% had liver stiffness values suggestive for fibrosis and 19.8% for cirrhosis. Most patients with steatosis and severe fibrosis were obese (66.7%). Triglycerides/HDLc ratio >4 correlated with hepatic steatosis (p=0.04), being more common in patients with severe fibrosis/cirrhosis (58.3%) than in those with absent or mild fibrosis (36.2%). Conclusions. Our study found a clear correlation between type 2 diabetes mellitus and the presence of liver steatosis. It correlates with body mass index, waist circumference (in men) and triglycerides/HDLc ratio. Controlled attenuation parameter is a useful noninvasive method for detection and quantification of liver steatosis.

Introduction. The published data showed the importance of metabolic control in preventing complications in metabolic syndrome (MS) and the role of nutritional medical therapy in glycemic control and in the control of dyslipidemia, hypertension, weight loss/normalization (in overweight or malnourished subjects). Objectives. This study follows the evolution of sarcopenic index (SI) and other clinical parameters (body mass index (BMI), homeostasis evaluation index (HOMA index)) correlated with MS after diet therapy or diet therapy combined with sports, in patients with MS. Patients and methods. Our research was conducted during 12 months, on 110 patients >18 years of age, with HOMA index>2, divided into three groups: control group (CG, N=20), diet therapy group (DTG, N=58), diet therapy and sports group (DTSG, N=32). HOMA index for insulin resistance was calculated as the product of resting plasma insulin (in microunits/milliliter) and plasma glucose (in millimoles/liter), divided by 22.5. SI was determined using BIA, as being the ratio between muscle mass and fat mass, measured in cm2 /m2 . Results. A significant decrease of BMI (p<0.05) in DTG (from 31.63 to 24.50) and DTSG (from 30.18 to 24.17) vs. CG was observed (Pearson coefficient r=0.281, p<0.001). Weight status changed significantly (p<0.05) in the high-risk patients. There was a significant decrease of HOMA index (p<0.05) in DTG (from 5.93 to 2.57), DTSG (from 3.93 to 2.23), and in CG an increase was observed (from 3.15 to 3.37). Conclusion. The best results in the prevention/ treatment of sarcopenia in MS patients were obtained for DTSG, which benefited from both the positive effect of diet and physical activity.

Background. The modern management of phenylketonuria (PKU) consists of generalized newborn screening (NBS) for hyperphenylalaninemia (HPA), confirmation of HPA in children detected in the NBS, introduction of dietary treatment in the first weeks of life, followed by monitoring the treatment of PKU for decades to maintain phenylalaninemia within the limits that will not affect the brain. The present study aimed to evaluate the usefulness of two chromatographic methodologies for determination of plasma Phe level in the routine management of PKU: the two dimensional thin layer chromatography (2D - TLC) and the high performance liquid chromatography (HPLC) procedures, respectively. Material and Methods. Samples of blood from 23 children with HPA detected by neonatal screening or with confirmed PKU who received treatment by low-Phe diet were analyzed to estimate the plasma Phe level by the two chromatographic procedures. Results. In case of three subjects the very low concentrations of plasma Phe could not be detected by the 2D - TLC methodology, since the spot was not visible on the chromatogram. In four patients the differences between the values of plasma Phe determined by the two methodologies are not statistically significant, while in fifteen subjects the differences are highly statistically significant. This is due to the greater errors that appear in the case of 2D - TLC methodology. In the range of concentrations of plasma Phe higher than 360 μmol/L (which is the cut-off value for HPA), although in four cases there were statistically significant differences in the level of plasma Phe determined by the two methodologies, the value obtained by the 2D - TLC methodology was high enough to influence the decision of changing the diet so that HPA is kept under control. In addition, the intense spot of Phe on the 2D - TLC chromatogram may be detected even by un unexperienced laboratory specialist. Conclusion. The HPLC procedure for measurement of plasma Phe level is very suitable to be used in the routine management of PKU. The 2D - TLC procedure may be accompanied by relatively high errors; however, it detects patients with severe PKU.