A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.

Are irreversible morphological [corrected] signs of portal hypertension in neurological form of Wilson's disease associated with treatment delay? A pilot study.

Aim of this study was to evaluate the rate of morphological liver and spleen abnormalities in patients with neurological clinical presentation of Wilson's disease (WD). Fourteen patients with neurological presentation of WD divided into group A (5 patients who initiated chelating therapy <24 months from the first symptoms) and group B (9 patients whose therapy started ≥24 months after the initial symptoms) underwent abdominal MRI examination. Abnormal findings on abdominal MRI were present in 28% of patients with neurological form of WD. Significant hepatosplenomegaly was present in none of the patients from group A and in 4 (44%) patients from group B. In addition, macronodular liver cirrhosis and peritoneal effusion were evident in two and one patient from group B, respectively, and in none of the patients from group A. Our results suggest that severe portal hypertension and liver damage in patients with neurological presentation of WD might be reversible or do not even develop if chelating treatment is initiated <2 years after the onset of symptoms.

Diagnostic significance of ultrasound and magnetic resonance imaging scan in the presurgical determination of FIGO stage of endometrial cancer.

PURPOSE: To compare the presurgically determined FIGO (Federation International Gynaecology Obstetrics) stage of endometrial cancer based on ultrasound (US) and magnetic resonance imaging (MRI) with the surgico-pathological disease stage. METHODS: 60 patients with histopathologically proven endometrial cancer were prospectively studied. Prior to surgical treatment, all patients underwent abdominal US and MRI. The imaging results were compared with the surgical histopathological findings. RESULTS: Imaging (US, MRI) staging accuracy for stage I identification was higher than the accuracy of advanced FIGO stages of endometrial cancer. Total accuracy of determination of all disease stages was significantly higher using MRI. CONCLUSION: US is not adequate for overall presurgical FIGO stage assessment, but does have satisfactory accuracy in determining tumor spread in the uterus itself and can be applied when MRI scanner is not available and when the risk of extrauterine disease expansion is low. MRI examination should be applied in all cases when there is suspicion for extrauterine spread into other pelvic and abdominal organs.

Three-dimensional multivoxel spectroscopy of the healthy hippocampus-are the metabolic differences related to the location?

AIM: The aim of this study was to determine the bilateral distribution of proton metabolites along the long axis of the hippocampus. MATERIALS AND METHODS: Forty-one healthy volunteers were examined using a 1.5T magnetic resonance imaging system, using proton three-dimensional spectroscopic imaging (3D CSI) of the left and the right hippocampus separately. Three dominant signals were measured: choline (Cho), total creatine (tCr), and n-acetylaspartate (NAA) and expressed as ratios of Cho:tCr, NAA:tCr, NAA:Cho and NAA:(Cho+tCr). We compared the data from three hippocampal regions: head, body and tail. RESULTS: Lower NAA:tCr ratios were found in head compared with the body (p<0.05) and in the head compared with the tail (p<0.05) bilaterally. Lower NAA:Cho and NAA:(Cho+tCr) ratios were found in the head compared with the body (p<0.05), in the body compared with the tail (p<0.05), and in the head compared with the tail (p<0.05) bilaterally. There was no statistically significant difference between the left and the right hippocampus. CONCLUSION: Ratios of NAA:tCr, NAA:Cho, and NAA:(Cho+tCr) in hippocampal tissue were significantly higher posteriorly than anteriorly. As the differences are present in healthy volunteers, the appearance in patients related to approximate voxel positioning within hippocampi may result in false-positive results.

Overlooked early CT signs of cerebral venous thrombosis with lethal outcome.

The aim of this report is to emphasize the consequences of overlooked initial CT signs of cerebral venous thrombosis. Brain CT was ordered in an afebrile patient with neck pain and occipital headache. Since no abnormalities were noted on non-contrast CT study, the patient was discharged with recommendation for routine laboratory tests and plain X-ray of the cervical spine. Right hemiparesis developed the next day with persistent headache and the patient was sent back to the Neurology Clinic where he developed myoclonic seizures compatible with focal motor status epilepticus. Neuroimaging, performed two days later, revealed a huge hemorrhagic venous infarcts in the left posterior cerebral hemisphere associated with typical signs of dural sinus thrombosis. Subtle curvilinear hyperdensities were detected within the left parietal cortico-subcortical border zone on reevaluation of the initial brain CT. A posteriori these were thought to be compatible with a developing venous infarct, associated with subtle signs most consistent with combined cortical vein and sinus thrombosis. No improvement was noted after administration of anticoagulant treatment and the patient died 11 days after the initial CT scan. Detection of early CT signs of cerebral venous thrombosis is extremely important, since delaying adequate treatment may have catastrophic consequences.

[Diagnostic quality of CT imaging of the thorax].

The paper is aimed at determining diagnostic quality of the images in different chest CT examination protocols. Two groups of patients underwent scanning based on two different protocols using Siemens Somatom 4 Plus scanner in the spiral mode. The study included the total of 64 patients divided in two groups according to their body weight (BW). Group one included 34 patients weighing above 80 kg and they were scanned according to the standard protocol. Group two comprised 30 patients weighting below 80 kg and they were scanned using the same protocol however with reduction of tube current of 13 mA. All the scans were subsequently reconstructed using noise-reduction filter (enhancement of low contrast resolution).

MR imaging of the brain in patients with hepatic form of Wilson's disease.

The aim of this study was to detect the sites and frequency of possible lesions by brain magnetic resonance imaging (MRI; 1,5T) in a group of 16 neurologically asymptomatic patients with hepatic form of Wilson's disease (WD; seven untreated and nine under treatment). Abnormal MR findings of the brain were found in 75% of patients. Lesions in brain parenchyma were detected in all untreated, drug-naive patients and in 44% of treated patients. Abnormal signal in globus pallidus, putamen, and caudate nucleus was revealed in 86, 71 and 71% of treated and in 33, 33 and 22% of untreated patients, respectively. In five of eight patients with putaminal pathology (62.5%) and in four of seven patients with caudate nuclei involvement (57%), only proton density 2-weighted sequence (PDW) exhibited sensitivity for lesion detection, with both T1W and long echo T2W sequences being insensitive. This superiority of PDW sequence was even more pronounced in the group of untreated patients in whom 80% of putaminal pathology was visible exclusively on this sequence. The lower frequency of lesions in the group of treated in comparison with untreated patients indicated that they might be reversible in the course of chronic chelating therapy.

Dystonia in Wilson's disease.

The frequency and type of dystonic movements, as well as brain abnormalities, as depicted with magnetic resonance imaging (MRI), which might correlate with dystonia, were studied in 27 consecutive patients with a neurologic form of Wilson's disease (WD) and optimized treatment. Dystonia was found in 10 patients (37%), being generalized in half of them, while two patients had segmental, two patients multifocal dystonia, and one patient bilateral foot dystonia. Dystonia was a presenting sign in four patients and developed later in the course of the disease in six patients, despite the administered therapy for WD. Putamen was the only structure significantly more frequently lesioned in dystonic (80%) in comparison to WD patients without dystonia (24%), suggesting a relation between abnormalities in this brain region and dystonic movements in WD.

[Second-look operations in malignancies of the breast]. / Second look operacije kod malignoma dojke.

Second look operation in surgical oncology practice has been performed because of three reasons: 1. revision of operative wound due to hematoma and dehiscence of wound, 2. doubt on local recidive and 3. because of doubt on spreading process on second breast. During the period from 1977 to 1986 at surgical oncology we had revision due to hematoma and dehiscence-27, local recidives-147, metastasis in lymphoglads axilla neck, parasternal and subclavicular-38. Metastasis in second breast were 11. Up to local recidive and expansion on a second breast we have got a period of relatively good health. At reoperation because of dehiscence and hematoma interval between two operation is very short so we have got present not only hypovolemia but also summation effect of used anesthetic and plasma expander. In our material, except anesthesia a great influence on blood hemism has got irradiation and cytostatic therapy so out of 147 women patients-45 have been previously radiated, 4 under cytostatic therapy, while combined therapy had 31 patients. And that was the reason why we had to examine the influence of anesthesia polyhemio and irradiation therapy on a change in hepatogramms, blood picture and coagulation. Found deviation are statistically significant in proportion, so we emphasize it a fact, that at revision we can't find very often the source of bleeding, connected with disorders of coagulation which we have found in our examination. Because of that, without regard on a spreading hematoma, we suggest parallel hemism, and before closing the wound local use of Beriplast or Surgicel.