Neurological manifestations and ATP7B mutations in Wilson's disease

Wilson's disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper excretion secondary to ATP7B gene mutations. Neurological presentations are variable in respect to both pattern and age of onset; commonly a movement disorder presents in the second or third decade. The aim of this study was to ascertain genotype correlations with distinct neurological manifestations in 41 WD patients in a Brazilian center for WD. A total of 23 distinct mutations were detected, and the frameshift 3402delC had the highest allelic frequency (31.7%). An association between 3402delC and dysphagia was detected (p=0.01) but the limited number of patients is insufficient to allow one to draw conclusions. Both clinical studies analyzing larger cohorts and basic research on ATP7B protein function could potentially shed more light on our understanding of WD.     

Positive correlation between peripheral blood granulocyte oxidative status and level of anxiety in mice

Oxidative stress is involved in many acute and chronic diseases including cancer, cardiovascular disorders and neurodegenerative diseases. We studied the relationship between the level of intracellular reactive oxygen species in peripheral granulocytes and the estimated anxiety level of mice using the behavioral light/dark choice test. Our results indicate a linear and significant relationship between the intracellular redox status of peripheral blood granulocytes and different parameters of anxiety-related behavior including latency time (R(2)=0.737, P<0.001), cumulative time spent in the lit box (R(2)=0.612, P<0.01) and number of entries into the lit box (R(2)=0.661, P<0.01). These results suggest a positive relationship between peripheral oxidative status and level of anxiety in mice.     

Pisiform-hamate synostosis with ulnar neuropathy. Case report

Entrapment of the ulnar nerve at the wrist is rare compared with the more commun site at the elbow. This condition was secondary to reccurent blunt trauma, ganglion cyst, vasculitic disorders, and fibrous bands. Compression of the ulnar nerve caused by pisiform-hamate coalition is rare entity. One case of this condition is reported.     

Characterization of the potency of epidermal growth factor (EGFR)-DNA targeting combi-molecules containing a hydrolabile carbamate at the 3-position of the triazene chain

Previous strategies for stabilizing combi-triazenes were based on masking the 1,2,3-triazene chain with a 3-acetoxymethylene group. The half-lives of the latter molecules were only ca 5 min longer than those of their parent 1,2,3-triazenes. The novel combi-molecules described herein contain a hydrolysable carbamate group that modulates their kinetics of degradation. Their half-lives were prolonged by ca 20–55 min when compared with their acetoxymethyltriazene counterparts. While they decomposed slowly in serum-containing medium, their intracellular decomposition was extremely rapid. They blocked EGFR tyrosine kinase in an isolated enzyme assay and in MDA-MB-468 breast cancer cells. Similarly, they all induced a dose-dependent DNA damage and G2/M cell cycle arrest in MDA-MB-468 cells, except the most stable compound ZRL2 (a 3-vinyl carbamate). ZRL4 (a chloromethyl carbamate) was the most potent and ZRL2 was the least active of the series against MDA-MB-468 cells. In selectivity assay with NIH-3T3 and NIH-3T3/HER-14, all compounds selectively blocked proliferation of NIH-3T3/HER-14. ZRS1 exerted the strongest growth inhibitory potency of the series. The results in toto suggest that ZRL2, despite being the most stable compound, could not hydrolyze at a rate that permitted the generation of DNA damaging species, thereby behaving primarily as an EGFR inhibitor. Thus the study permitted the definition of an optimized combi-molecule as one that decomposes at a rate that is slower than that of acetoxymethyltriazenes, but rapid enough to generate strong EGFR-DNA targeting potential and growth inhibition. Based on the latter criteria, ZRS1 and ZRL4 were tested in vivo and ZRS1 has proven the more effective.     

Male breast cancer]

This study has been realized to determine epidemiological profile and clinico-pathologic aspects of male breast cancer in the south of Tunisia. We has counted and analysed all male breast cancers diagnosed in the general surgery department of the Sfax university teaching hospital with proof pathologic or to defect cytologic of malignancy, between 1989 and 2000. In the court of these years 23 new cases of mammary cancer has been diagnosed at the man. The average patient age was 68 years (extremes 40 and 95 years). According to TNM classification of 1988, 4.3% were classified T1, 26.1% T2, 8.6% T3 and 61% T4; 22% of tumors were M1. Histology found: 3 in-situ carcinomas (13%), 18 ductular infiltrating carcinomas (79%), 1 papillary cystadenocarcinoma, and 1 neuro-endocrin tumor. The clinic profile of male breast cancer in our country rest again relatively little frequent and its clinic profile resist alarming. To get better prognosis it is important to increase information and to promote early detection.     

Transradial approach for coronary angiography and angioplasty]

The transradial approach of coronary angiography and angioplasty is now become a good alternative to the femoral approach in patients with normal Allen test results, because low rate of access site complication, improved patient comfort and early ambulation. This approach is particularly interesting in obese patients, aortoiliac disease or in patients under anticoagulation treatment or thrombolytics.     

药物干预或手术干预对急性心肌梗死与冠心病患者心率变异性的影响

目的：探讨药物或手术干预对急性心肌梗死（AMI）与冠心病人心率变异性（HRV）的影响。方法：通过观察31例AMI患者药物治疗前后HRV改变及26例PICA术病人、25例CABG术病人手术干预性治疗前后HRV的改变。结果：三组病人的HRV指标在药物或手术干预后均有不同程度的改善，治疗后6个月趋稳定，但仍低于正常对照组。结论：心血管的干预性治疗可改善病人的HRV值，但该类病人仍存在交感迷走神经的平衡失调，故仍有潜在的危险性，而心肌梗死病人的潜在预后不良的危险性较PTCA及CABG组病人更大。     

La luxation métatarsophalangienne du gros orteil: variété plantaire. À propos d’un cas

Plantar dislocation of the metatarsophalangeal joint of the great toe is a rare injury. We report the third example in the literature, detailing the anatomy, the mechanism of the injury, and the radiographic diagnosis with a review of the literature.