SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND.

OBJECTIVE: Ectopic posterior pituitary gland (EPP) is usually characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain. The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP. METHODS: In the Endocrinology Outpatient Clinic of "Dr. Behcet Uz" Children's Hospital, 27 patients with EPP were submitted to sequencing analyses of the PROP-1, LHX2, and POU1F1 genes. RESULTS: Growth hormone, thyrotropin, corticotropin, gonadotropin, and vasopressin deficiency were observed in 22 (81.5%), 23 (85.2%), 17 (63%), 14 (51.9%), and two (7.4%) patients. Thirteen patients (48.1%) presented with hyperprolactinemia. Fourteen patients (51%) had a history of birth dystocia, and 12 cases (42.1%) had a history of breech presentation. Central nervous system abnormalities included five cases with corpus callosum agenesis, one case with schizencephaly, and one case with Chiari type 1 malformation. We identified a homozygous p.S109* mutation in exon 2 in one male patient with EPP and two different PROP1 gene polymorphisms (A142T or c.109+3 G>A polymorphism) in thirteen patients. CONCLUSIONS: Our results suggest that PROP1 gene abnormalities might explain the genetic mechanisms involved in the development of EPP.

Predictive value of magnetic resonance imaging signal and contrast-enhancement characteristics on post-embolization volume reduction of uterine fibroids.

PURPOSE: To assess the magnetic resonance imaging (MRI) signal and contrast-enhancement features of uterine fibroids before and after embolization, and to determine whether or not there are pre-embolization MRI characteristics that predict the volume reduction of fibroids. MATERIAL AND METHODS: Uterine fibroid embolization (UFE) was carried out in 28 fibroids of 20 patients, all of whom were symptomatic. The patients were prospectively evaluated with T1-weighted, T2-weighted, and gadolinium-enhanced T1 MRI sequences before and 6 months after embolization. The relationship between the characteristics of MRI signal and contrast-enhancement features of fibroids before the procedure and the change in size of the lesions after treatment was investigated. RESULTS: Before embolization, the mean volume of fibroids was 123 cm3 (8-560 cm3). The decrease rate in fibroid volumes was 44.6% (range 7-70%) 6 months after embolization. Volume reduction was more prominent in fibroids that had a high signal intensity on T2-weighted images and a marked contrast enhancement on T1-weighted images (P < 0.001). However, the volume reduction was insufficient in fibroids with high signal characteristics on pre-contrast T1-weighted images (P < 0.001). CONCLUSION: MRI is an effective method for revealing size and signal changes of fibroids after embolization. MRI signal characteristics and the contrast-enhancement pattern of fibroids before embolization can predict tumor volume reduction after embolization.

Endoscopic view and MRI of a Thornwaldt's cyst of the nasopharynx.

A Thornwaldt's cyst is an uncommon nasopharyngeal lesion that develops from the remnant of the primitive notochord. A 65-year-old man with a Thornwaldt's cyst is presented in this case report. The patient was diagnosed by rigid nasal endoscopy and magnetic resonance imaging (MRI). These cases are infrequently presented in the English journals. Our study suggested that endoscopic and MRI examinations of the nasopharynx were a simple, rapid, and useful procedure for the diagnosis of the Thornwaldt's cysts.

Direct percutaneous embolization of a carotid body tumor with n-butyl cyanoacrylate: an alternative method to endovascular embolization.

We report ultrasound-guided direct percutaneous injection of n-butyl cyanoacrylate for preoperative embolization of carotid body tumor in a 50-year-old patient. Angiographic road map assistance was used for protection of parent arteries during the injection. After embolization, complete devascularization of the tumor was achieved without complications. The tumor was removed surgically with minimal blood loss. This procedure is effective and promising for preoperative embolization of carotid body tumors.

Abdominal hydatid disease: long-term results of percutaneous treatment.

PURPOSE: To evaluate the effectiveness of percutaneous treatment under sonographic guidance in abdominal hydatid cysts. MATERIAL AND METHODS: Fifty-two hydatid cysts in 33 patients were treated using a percutaneous approach under sonographic guidance. Forty-five cysts were located in the liver, 6 in the spleen, and 1 in the pancreas. Forty-nine cysts were type I, and 3 were type II. Thirty-one cysts in 15 patients were treated with puncture and aspiration of the contents, injection of hypertonic saline solution, and respiration (PAIR); 15 cysts in 14 patients were treated with puncture, aspiration of cyst contents, injection of hypertonic saline solution, drainage, and injection of sclerosing agent (PAIDS); and 6 cysts in 4 patients were treated with puncture, aspiration of cyst contents, injection of sclerosing agent, and re-aspiration (mPAIDS). Hypertonic saline or alcohol was used as a scolicidal agent. The follow-up period was between 17 and 53 months. RESULTS: A decrease in the dimensions of the cysts, solidification of the contents, and irregularity in the walls of cysts, all of which were considered signs of cure, were found in all patients. Recurrence was observed in one case and anaphylaxis in one. CONCLUSION: Percutaneous treatment of abdominal hydatid cysts is a safe, easily applicable, well-tolerated, and effective method.

Tuberculosis in dialysis patients, single centre experience from an endemic area.

Because of immunity defect, patients with end-stage renal disease are at increased risk of developing infections, tuberculosis (TB) in particular. The incidence of TB is higher in dialysis patients than in general population. We retrospectively reviewed the charts of dialysis patients with TB in our facility. A total of 287 dialysis patients (153 male, 134 female, 223 haemodialysis (HD), 64 continuous ambulatory peritoneal dialysis (CAPD) patients, mean age 46 +/- 15) were reviewed from October 1997 to January 2002. TB developed in 30 patients (17 male, 13 female, 24 HD and six CAPD). Thirteen patients with TB presented with fever of unknown origin (FUO) and four of them subsequently developed military lesions on chest X-ray. Nine patients had pulmonary TB (four with pleural effusions), five patients had TB lymphadenits, two patients had TB peritonitis and one patient had vertebral TB. TB was presented mostly as FUO among dialysis patients in a region under poor socio-economic conditions. In such areas with endemic TB, dialysis patients who present with FUO should be carefully evaluated for the presence of TB, and test therapy for TB should be performed in otherwise unexplained FUO.

MRI findings of hepatic alveolar echinococcosis.

Diagnosis of liver infestation by alveolar echinococcosis (AE) is based on serologic, sonographic and computed tomography (CT) findings. Experience with magnetic resonance imaging (MRI) demonstrates that features of this disease are limited. CT and MRI findings of 14 cases with hepatic AE were compared in this report. We have described the MRI appearance of hepatic AE, which exhibits variable signal intensities on T1- and T2-weighted images. Fibrous and parasitic tissue showed low signal both on T1- and, generally, on T2-weighted images. In a few cases, a high signal on T2-weighted images may be observed, due either to central necrotic zones or to small peripheral cyst. MRI than by CT was more easily identified central necrosis. However, MRI seemed to be less effective than CT in allowing us to reach a positive diagnosis, due to its inability to show microcalcifications. In addition, MRI may not reveal small lesions. In most cases, T1-weighted images revealed more clearly than CT did the margins of the lesions and the hepatic extension, especially to hepatic veins, vena cava and perihepatic spaces.

Bronchobiliary fistula due to hydatid disease of the liver: a case report.

As a complication of hydatid cyst disease of the liver, bronchobiliary fistula is a rare condition and manifests as bilioptysis. We report the case of a 34 year-old man with echinococcosis of the liver who developed a bronchobiliary fistula which manifested as chronic cough and bile stained sputum. A chest X-ray showed an unilateral infiltrate in the costodiaphragmatic angle. Bronchoscopy revealed bile filling the right basal bronchi. Magnetic resonance cystography revealed that the hepatic bile ducts communicated with the right basal pleural space. Percutaneous transhepatic drainage was applied. When the patient was reevaluated, the hydatid cyst had eroded into the pleural space, and a pleural effusion had developed. The condition of the patient deteriorated. Hence, surgical therapy was performed. After surgery, the condition of the patient improved. He was discharged from the hospital in good condition.

Late systolic wave on brachial artery blood flow velocity pattern in patients with coronary artery disease and its relation to vascular stiffness.

Duplex-Doppler study typically exhibits triphasic brachial artery blood flow velocity pattern in subjects classified as normal without clinically evident atherosclerotic complications, heart disease, hypertension, or diabetes mellitus. In this study, the authors described the late systolic wave on the brachial artery blood flow velocity pattern in patients with coronary artery disease and investigated the relation between late systolic wave and vascular stiffness. Blood flow profile and velocity of the brachial artery were determined noninvasively by ultrasound pulsed-Doppler technique under the guidance of a B-mode ultrasound image in 96 patients with coronary artery disease (CAD). The control group consisted of 23 healthy subjects with no or maximally 2 risk factors (only among age, cigarette smoking, obesity, and gender) for vascular disease. None of the patients and controls had clinical evidence of arterial disorders at upper extremities. In 32 patients (33%) with CAD, a late systolic wave was observed in the brachial artery Doppler study. On the other hand, no late systolic wave was observed in the healthy subjects. In addition, multivessel disease, hypertension, advanced age, diabetes, and smoking were significantly more frequent in patients with the late systolic wave. In conclusion, peripheral arterial abnormalities induced by vascular stiffness may produce alterations in regional wave reflections, and the normal triphasic pattern of the brachial artery blood flow may change by the appearance of the late systolic wave.

The effects of cyclophosphamide and its uroprotective agents, mesna and hyperbaric oxygen, on urinary bladder motility in guinea pigs.

The aim of this research was to observe the effects of cyclophosphamide and its uroprotective agents, mesna and hyperbaric oxygen (HBO), on the motility of urinary bladder muscle in guinea pigs. In the experimental groups, mesna and cyclophosphamide were intraperitoneally injected at a dose of 21.5 mg/kg and 68.1 mg/kg, respectively. For the combination of mesna and cyclophosphamide, one dose of mesna was injected 20 min before cyclophosphamide administration and three additional injections of mesna were repeated every three hours. A total of 8 HBO exposures were performed at 2.8 ATA for 90 min twice daily for another experimental group. In the HBO and cyclophosphamide combined group 5 HBO exposures were given prophylactically before cyclophosphamide. The combination of mesna, HBO and cyclophosphamide was administered by the same procedure. The contractions obtained in response to acetylcholine (ACh, 10(-4) M) in the control group were reduced using cyclophosphamide and HBO individually, but not by mesna. However, the contractions belonging to the various combinations of these three agents were not different from those seen in the control group. On the other hand, the combinations of cyclophosphamide, mesna and HBO showed higher responses to ACh than the groups in which cyclophosphamide and HBO were used individually, while the responses elicited by the cyclophosphamide and HBO combination were greater than those seen in the group treated with HBO only.

Comparison of the uroprotective efficacy of mesna and HBO treatments in cyclophosphamide-induced hemorrhagic cystitis.

The aim of this research was to compare the protective effects of mesna, hyperbaric oxygenation (HBO), and their combination in cyclophosphamide-induced hemorrhagic cystitis in guinea pigs. Following one dose of i.p. 21.5 mg./kg. mesna administration 20 minutes before i.p. 68.1 mg./kg. cyclophosphamide, 3 additional doses of mesna were given every three hours. A total of 8 HBO exposures, 5 of which were applied prophylactically before cyclophosphamide, were performed at 2.8 ATA for 90 minutes 2 times a day. Although mesna or HBO provided significant protection for cyclophosphamide-cystitis in animal bladders, there was also significant damage compared with controls. The combination of mesna and HBO, which act through independent mechanisms, resulted in complete protection, since mean histological scores and hematuria levels in this group were not different from controls (p >0.05). Therefore, this combination may be a useful tool in the prophylaxis and treatment of cyclophosphamide-induced hemorrhagic cystitis.

Protective effect of antioxidant vitamins on red blood cell lipoperoxidation induced by SO2 inhalation.

The aim of this research was to determine whether administration of antioxidant vitamins can reduce oxidant damage in erythrocytes induced by sulfur dioxide (SO2) inhalation. Meth- and sulfhemoglobin ratios, malonyldialdehyde (MDA) levels, osmotic fragility ratios and hematological parameters of a total of 28 rats were compared. SO2 was given at 10 ppm, 1 hour daily, for 45 days in a specially designed chamber. DL-alpha-Tocopherol acetate (40 mg/kg) and Na-ascorbate (200 mg/kg) treatments, initiated 3 days before SO2 exposures, were applied intraperitoneally 3 times a week for 45 days. Meth- and sulfhemoglobin ratios, MDA levels and osmotic fragility ratios were significantly higher in the SO2-treated group (p < 0.05). Significant decreases in MDA levels and osmotic fragility ratios were observed in the antioxidant-treated group (p < 0.05). SO2 inhalation resulted in higher MDA levels and osmotic fragility ratios, which can be reduced by vitamin E + C combination.

The effect of antioxidant vitamins E and C on lipoperoxidation of erythrocyte membranes during hyperbaric oxygenation.

The aim of this research was to determine whether administration of an antioxidant vitamin combination can reduce oxidative damage in erythrocytes induced by hyperbaric oxygenation (HBO). Malonyldialdehyde (MDA) levels and osmotic fragility ratios in erythrocytes of 28 rats were compared in group A [control], group B [Vitamin (E + C)], group C [HBO] and group D [HBO + Vitamin (E + C)]. HBO was applied at a pressure of 2.8 atmospheres absolute (ATA), 1 hour daily, for 45 days in groups C and D. Administration of alpha-tocopherol acetate (40 mg/kg) and Na-ascorbate (200 mg/kg) was initiated 3 days before the start of HBO exposures and administered intraperitoneally 3 times a week for 45 days. MDA levels and osmotic fragility ratios were significantly higher in group C than in groups A and B (p < 0.05 for all). Significant decreases in MDA levels and osmotic fragility were observed in group D compared with group C, although these parameters were still significantly higher than in controls (p < 0.05 for all). Prolonged HBO resulted in oxidative damage indicated by significant increases in MDA levels and osmotic fragility ratios, which were reduced by concomitant vitamin (E + C) administration.

The effects of sulfur dioxide inhalation and antioxidant vitamins on red blood cell lipoperoxidation.

An attempt was made to determine whether sulfur dioxide (SO2,) inhalation at 10 ppm, 1 hr daily, for 30 days induces oxidant stress and whether vitamin E (40 mg/kg) together with vitamin C (200 mg/kg), administered intraperitoneally once in every 3 days, can reduce the damage in red blood cell membranes of guinea pigs. Malonyldialdehyde (MDA) levels, osmotic fragility ratios, and methemoglobin and sulfhemoglobin values were significantly higher in the SO2-treated group compared with the control group (P < 0.05), and marked decreases in MDA levels and osmotic fragility ratios were determined in the group treated with SO2 + antioxidant vitamins (P < 0.05).