Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations

We have identified the A3243G heteroplasmic point mutation in mitochondrial DNA from a female patient with headache as the main clinical feature. The mitochondrial origin of her disease was only suspected because of her brother with MELAS syndrome. Morphological and biochemical studies failed to reveal mitochondrial respiratory chain dysfunction in her muscle which contained 65% of mutated mitochondrial DNA molecules. Molecular studies performed among four generations (in the blood of seven subjects) showed the variable transmission of mutated molecules and pointed out the difficulty in giving genetic counsel.     

CT Angiography Source Image Evaluation for Stroke

Computed tomography angiogram of the head and neck has lately become a pivotal imaging modality in the patient with acute stroke symptoms due to its high resolution, accuracy, speed, and sensitivity in the assessment of brain parenchyma and vascular patency.     

Biphasic insulin aspart given thrice daily is as efficacious as a basal-bolus insulin regimen with four daily injections: a randomised open-label parallel group four months comparison in patients with type 2 diabetes.

AIMS: To show that a thrice daily meal-time biphasic insulin aspart (BIAsp) treatment regimen is as efficacious as a 4 times daily basal-bolus regimen with human isophane insulin (NPH) and insulin aspart (IAsp). METHODS: A multinational, randomised, open-label parallel-group trial in 394 patients with type 2 diabetes on a once or twice daily insulin regimen. Patients were randomised 1:1 to BIAsp or IAsp+NPH for 16 weeks. The BIAsp group was treated according to individual needs using BMI as a surrogate index of insulin resistance. Subjects administered BIAsp 70 (BMI< or =30 kg/m (2)) or BIAsp 50 (BMI>30 kg/m (2)) with breakfast and lunch and BIAsp 30 with dinner. The IAsp+NPH group injected IAsp at meals and NPH at bedtime as basal insulin. HbAlc levels after 16 weeks were compared between treatments using a predefined non-inferiority criterion of 0.4%. The incidence of hypoglycaemic episodes and adverse events was evaluated. RESULTS: Mean HbAlc (+/-SD) decreased from 9.1+/-0.7% to 7.8+/-1.0% with both treatments. Glycaemic control provided by BIAsp was non-inferior to that obtained by the IAsp+NPH (intention to treat ITT) population: diff, HbAlc -0.05%; 95% CI (-0.24; 0.14); per protocol (PP) population: diff, HbAlc -0.03%; 95% CI (-0.23; 0.16). Similar improvements in glycaemic control in both groups were confirmed by self-measured 8-point plasma glucose (PG) profiles, average and fasting PG concentrations, and average prandial PG increments. The incidence of adverse events and hypoglycaemic episodes was similar in the two treatment groups. CONCLUSIONS: A thrice daily meal-time BIAsp regimen is a suitable alternative to an intensified insulin regimen in people with inadequately controlled type 2 diabetes mellitus, and requires fewer daily injections than a basal-bolus therapy without compromising efficacy and safety.     

Antioxidant and glutathione-related enzymatic activities in rat sciatic nerve

The present work tries to establish the antioxidant capacity of the peripheral nervous tissue of the rat, in terms of the enzymatic activities present in this tissue that either prevent the formation of activated species as the semiquinone radical (DT-diaphorase), protect against activated oxygen species (superoxide dismutase, glutathione peroxidase), conjugate natural toxic products or xenobiotics (glutathione S-transferases, especially the activity conjugating 4-hydroxy-nonenal), or complete the glutathione system metabolism (glutathione disulfide reductase, γ-glutamyl transpeptidase). All the activities studied are lower in this tissue than they are in liver, except for γ-glutamyl transpeptidase. The relevance of the results obtained and its possible relationship with different neuropathies is discussed. It is concluded that the peripheral nervous tissue is by far less protected than the liver against oxidative damage.     

Direct carotid sinus approach to treatment of bilateral carotid-cavernous fistulas. Case report

The authors present a patient with a complex vascular malformation composed of bilateral spontaneous carotid-cavernous fistulas (CCF's). The abnormality was supplied on the right side by the right external carotid artery (ECA) and the right internal carotid artery (ICA), and on the left side only by the left ICA. There was also an arteriovenous communication between the right ECA and the lateral sinus. Surgical embolization of both cavernous sinuses with oxidized cellulose was achieved on one side by direct puncture and on the other through one of its venous affluents, successfully occluding both CCF's and preserving the patency of both ICA's without any neurological deficit. The arteriovenous communication between the right ECA and the lateral sinus was occluded by embolization of the occipital artery and ligation of the right ECA.     

Chondroblastoma of the rib. A case report and review of the literature

Chondroblastoma, a rare bone tumor usually found in the epiphyseal region of long bones, appeared in the rib of a 49-year-old man. Review of the literature reveals that the most common locations for this tumor are the knee and proximal humerus. The most common age group is the second decade. Eighteen cases of chondroblastoma of the rib have been reported in the literature; the patients were older than typical patients with epiphyseal chondroblastoma and had an excellent prognosis after resection of the tumor.     

Alzheimer's disease: identical phenotype of familial and non-familial cases

Summary Ninety outpatients with Alzheimer's disease according to ICD-10 diagnostic draft criteria were studied to test the hypothesis that cases with a familial aggregation are different from cases without such an aggregation with respect to cognitive impairment. In all cases the diagnosis of Alzheimer's disease was confirmed by prospective observation within 12 months of initial evaluation. Patients were divided into two groups: one consisting of 23 patients with a familial aggregation, the other consisting of 67 patients without secondary cases among first-degree relatives. By means oft-tests differences in impairment of cognitive functions between the groups were calculated. The results did not yield statistically significant differences between the groups for any of the neuropsychologically investigated cognitive deficits. Thus the hypothesis that the presence of a familial aggregation may lead to a distinct phenotype in Alzheimer's disease was not confirmed.     

Interleukin-1 in alcoholic cirrhosis of the liver: the influence of nutrition.

Interleukin-1 (IL-1) is a cytokine produced by the macrophage-monocyte system that has important effects on immunological responses and inflammatory reactions. Several clinical studies have shown that severe protein energy malnutrition adversely effects cell-mediated immune responses and the functional state of macrophages. The objective of this study was to analyse IL-1 production by adherent cells stimulated in vitro with lipopolysaccharide B (LPS) from patients with alcoholic cirrhosis of the liver and its possible relationship with nutritional states. Forty-five patients with alcoholic cirrhosis and 28 healthy donors were investigated. A combined index of nine anthropometric and biochemical parameters was used to evaluate nutritional status of cirrhotic patients, allowing a distinction to be made between those patients with acceptable nutrition (group I: 40%), those with slight malnutrition (group II: 37.7%), and those with severe malnutrition (group III: 22.3%). IL-1 activity was significantly lower in the cirrhosis patients than in the controls (P less than 0.001). This activity also was significantly lower in samples obtained from cirrhotics with severe malnutrition than in those with acceptable nutrition (P less than 0.05); the combined index and the sole anthropometric index gave the same results, suggesting that malnutrition may play a role in the immunoregulatory disturbances in the pathogenesis of alcoholic liver disease.