Ethnic differences in cerebral venous thrombosis

BACKGROUND: Cerebral venous thromboses (CVT) with distinct clinical presentations have been shown worldwide. However, there is little information regarding race-ethnic differences in this disease. METHODS: We prospectively studied 50 CVT patients from Brazil, comparing clinical and laboratory data among white (W) and African-Brazilian (AB) patients. RESULTS: Seventy percent of the patients were female, 26 W and 23 AB, mean age 34.7 years. Multiple sinus CVT, deep CVT and worse outcome were significantly more frequent in AB than in W patients. There was a trend towards a higher frequency of factor V Leiden and prothrombin mutation in W than in AB, and of protein C deficiency in AB. CONCLUSIONS: CVT was more severe in AB patients than in W patients. Race-ethnic differences may account for the heterogeneous distribution of inherited thrombophilia in this series.     

Improved naming after TMS treatments in a chronic, global aphasia patient--case report

We report improved ability to name pictures at 2 and 8 months after repetitive transcranial magnetic stimulation (rTMS) treatments to the pars triangularis portion of right Broca's homologue in a 57 year-old woman with severe nonfluent/global aphasia (6.5 years post left basal ganglia bleed, subcortical lesion). TMS was applied at 1 Hz, 20 minutes a day, 10 days, over a two-week period. She received no speech therapy during the study. One year after her TMS treatments, she entered speech therapy with continued improvement. TMS may have modulated activity in the remaining left and right hemisphere neural network for naming.     

Employment Outcomes and PTSD Symptom Severity

A diagnosis of chronic war-related posttraumatic stress disorder (PTSD) has been linked consistently to poor employment outcomes. This study investigates the relation further, analyzing how symptom severity correlates with work status, occupation type, and earnings. Study participants were male Vietnam veterans with severe or very severe PTSD who received treatment in the Department of Veterans Affairs system (N = 325). Veterans with more severe symptoms were more likely to work part-time or not at all. Among workers, more severe symptoms were weakly associated with having a sales or clerical position. Conditional on employment and occupation category, there was no significant relation between PTSD symptom level and earnings. Alternative PTSD symptom measures produced similar results. Our findings suggest that even modest reductions in PTSD symptoms may lead to employment gains, even if the overall symptom level remains severe.     

Oxidative stress: the old enemy in Alzheimer's disease pathophysiology

The complex nature and genesis of oxidative damage in Alzheimer disease can be partly answered by mitochondrial and redox-active metal abnormalities. By releasing high levels of hydrogen peroxide, dysfunctional mitochondria propagate a series of interactions between redox-active metals and oxidative response elements. In the initial phase of disease development, amyloid-beta deposition and hyperphosphorylated tau may function as compensatory responses and downstream adaptations to ensure that neuronal cells do not succumb to oxidative injuries. However, during the progression of the disease, the antioxidant activity of both agents evolves into pro-oxidant activity representing a typical gain-of-function transformation, which can result from an increase in reactive species and a decrease in clearance mechanisms.     

Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis

BACKGROUND: XX males range phenotypically from completely masculinised individuals to true hermaphrodites and include a subset of SRY negative patients. The correlation between genotype (SRY+/-) and phenotype is still unclear. AIM: To report three new patients with this rare condition, one of whom was diagnosed prenatally and another was SRY negative, and to verify in our patients whether the presence of SRY results in a more masculinised phenotype. PATIENTS AND METHODS: We present two phenotypically normal XX male patients (10 and 13.5 years) and one 3.1 years old XX male with ambiguous external male genitalia Prader IV. The patients were diagnosed by clinical, hormonal, sonographic, genetic and histological criteria. RESULTS: Basal hormonal status was normal for phenotype but an excessive response to GnRH testing was noticed in the second patient together with insufficient hCG stimulation in all three patients. Pelvic ultrasound displayed male structures without Müllerian ducts; testicular biopsy, performed only in the intersex patient, showed Sertoli and Leydig cell hypoplasia. Chromosome analysis confirmed 46,XX karyotype. FISH analysis and molecular analysis by PCR were positive for Yp fragments/SRY gene on Xp in two patients and negative in the patient with ambiguous external genitalia. CONCLUSIONS: In our observation Y chromosome-specific material containing the SRY gene translocated to the X chromosome results in a completely masculinised phenotype. In the intersex patient, incomplete masculinisation without SRY suggests a mutation of one or more downstream non-Y testis-determining genes.     

A multisite randomized trial of the effects of physician education and organizational change in chronic asthma care: cost-effectiveness analysis of the Pediatric Asthma Care Patient Outcomes Research Team II (PAC-PORT II)

BACKGROUND: A decision to implement innovative disease management interventions in health plans often requires evidence of clinical benefit and financial impact. The Pediatric Asthma Care Patient Outcomes Research Team II trial evaluated 2 asthma care strategies: a peer leader-based physician behavior change intervention (PLE) and a practice-based redesign called the planned asthma care intervention (PACI). OBJECTIVE: To estimate the cost-effectiveness of the interventions. METHODS: This was a 3-arm, cluster randomized trial conducted in 42 primary care practices. A total of 638 children (age range, 3-17 years) with mild to moderate persistent asthma were followed up for 2 years. Practices were randomized to PLE (n = 226), PACI (n = 213), or usual care (n = 199). The primary outcome was symptom-free days (SFDs). Costs included asthma-related health care utilization and intervention costs. RESULTS: Annual costs per patient were as follows: PACI, USD 1292; PLE, USD 504; and usual care, USD 385. The difference in annual SFDs was 6.5 days (95% confidence interval [CI], -3.6 to 16.9 days) for PLE vs usual care and 13.3 days (95% CI, 2.1-24.7 days) for PACI vs usual care. Compared with usual care, the incremental cost-effectiveness ratio was USD 18 per SFD gained for PLE (95% CI, USD 5.21-dominated) and USD 68 per SFD gained for PACI (95% CI, USD 37.36-361.16). CONCLUSIONS: Results of this study show that it is possible to increase SFDs in children and move organizations toward guideline recommendations on asthma control in settings where most children are receiving controller medications at baseline. However, the improvements were realized with an increase in the costs associated with asthma care.     

Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation

Transient myeloproliferative disorder is a form of self-limited leukemia that occurs almost exclusively in neonates with Down syndrome. The authors report an unusual case of a newborn without constitutional trisomy 21 who developed undifferentiated leukemia and subsequently achieved clinical and molecular remission without chemotherapy. Cytogenetics and molecular analysis have shown trisomy 21 and GATA1 mutation restricted to leukemic cells. G-to-T transversion was detected, which is predicted to result in a premature stop codon (c.119G>T; pGlu67X) in diagnosis samples. These findings emphasize that there must be a powerful interaction between GATA1 and trisomy 21 in leukemogenesis process.