Pseudoathetosis: report of three patients.

We report on 3 patients with pseudoathetosis, which are involuntary, slow, writhing movements due to loss of proprioception.     

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients

Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a defect in a metal transporting P-type ATPase, resulting in copper overload in various tissues and cells. The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype. Sixty subjects belonging to 46 pedigrees diagnosed as WD were included in this study. Direct sequencing of all 21 exons within ATP7B and their flanking introns was performed. Demographic, clinical, laboratory and histopathological data at the time of diagnosis were obtained. We identified twenty-five mutations, twelve of them reported for the first time. The c.3402delC mutation had the highest allelic frequency (30.8%), followed by the c.2123T>C (p.L708P) (16.7%). Exons 8 and 15 were the site of 62.5% of the mutations. The common European mutation c.3207C>A (p.H1069Q) was not present at all. Phenotype varied greatly among individuals with the same ATP7B genotype. Our data confirm the heterogeneity of ATP7B genotype in Brazilian WD patients. The mutational spectrum is compatible with the Brazilian history of Mediterranean immigration; however, new mutations, and different frequencies and phenotype associated with the previously known mutations characterize this population. Exons 8 and 15 should be preferentially screened in WD cases from Brazil. Phenotype variation among subjects with the same ATP7B genotype suggests that modifying factors play an additional role in the pathogenesis of WD.     

Comparing Electrical Stimulation With and Without Ultrasound Guidance for Phenol Neurolysis to the Musculocutaneous Nerve

Background

Ultrasound guidance is increasingly being used for neurolytic procedures that have traditionally been done with electrical stimulation (e-stim) guidance alone. Ultrasound visualization with e-stim?guided neurolysis can potentially allow adjustments in injection protocols that will reduce the volume of neurolytic agent needed to achieve clinical improvement.

Ilex paraguariensis (yerba mate) improves endocrine and metabolic disorders in obese rats primed by early weaning

Purpose

We showed that early weaned rats developed obesity, hyperleptinemia, leptin and insulin resistance at adulthood. Here, we studied the potential beneficial effects of Ilex paraguariensis aqueous solution upon body composition, glycemia, lipid and hormonal profiles, leptin signaling and NPY content.

Methods

To induce early weaning, lactating rats’ teats were blocked with a bandage to interrupt lactation during the last 3 days (EW group), while control offspring had free access to milk throughout lactation (C group). In postnatal day (PN) 150, EW offspring were subdivided into: EW and EW+ mate groups treated, respectively, with water or yerba mate aqueous solution (1 g/kg BW/day, gavage) during 30 days. C offspring received water for gavage. In PN180, offspring were killed.

Results

EW+ mate group presented lower body weight (?10 %), adipose mass (retroperitoneal:?40 % and epididymal:?44 %), total body fat (?43 %), subcutaneous fat (?46 %), visceral adipocyte area (?21 %), triglyceridemia (?31 %) and hypothalamic NPY content (?37 %) compared to EW group. However, hyperglycemia and lower HDL-c levels observed in EW group were not reverted with mate treatment. Although the hyperleptinemia, lower hypothalamic JAK2 and pSTAT3 content of EW group were not corrected by mate treatment, the hyperphagia and higher hypothalamic SOCS-3 content were normalized in EW+ mate group, indicating that the central leptin resistance could be restored.

Conclusion

Thus, the therapy with yerba mate solution was capable to reverse abdominal obesity, leptin resistance and hypertriglyceridemia, suggesting an important role of this bioactive component in the management of obesity in this programming model.     

Neurological status predicts response to alpha-blockers in men with voiding dysfunction and Parkinson's disease

OBJECTIVES:To evaluate predictors of the response to doxazosin, a selective alpha-adrenoceptor antagonist, when used for the treatment of lower urinary tract symptoms in men with Parkinson''s disease.METHODS:In a prospective study, 33 consecutive men (mean age 59.2±7.0 years) with Parkinson''s disease and lower urinary tract symptoms were evaluated. Neurological dysfunction was assessed with the Unified Parkinson''s Disease Rating Scale. Urological assessment was performed at baseline and after 12 weeks of treatment with 4 mg/day of extended-release doxazosin, including symptom evaluation with the International Continence Society male short-form questionnaire, an assessment of the impact of lower urinary tract symptoms on quality of life and urodynamics. Clinical and urodynamic predictors of response were specifically evaluated.RESULTS:Compared with the score at baseline, the total International Continence Society male short-form score was reduced after doxazosin administration, from 17.4±7.5 to 11.1±6.9 (p<0.001). The impact of lower urinary tract symptoms on quality of life was also significantly reduced, from 1.8±1.1 to 1.0±1.0 (p<0.001) and the maximum urinary flow varied from 9.3±4.4 to 11.2±4.6 ml/s (p = 0.025). The severity of neurological impairment was the only predictor of the clinical response. Additionally, patients with a Unified Parkinson''s Disease Rating Scale score lower than 70 had a significantly higher chance of clinical improvement with doxazosin treatment than those with higher Unified Parkinson''s Disease Rating Scale scores did (RR = 3.10, 95% CI = [1.15 to 5.37], p = 0.011).CONCLUSIONS:Doxazosin resulted in the improvement of lower urinary tract symptoms and the maximum flow rate and was well tolerated in men with Parkinson''s disease. The response to treatment is dependent on the severity of neurological disability.     

Clinically relevant behaviors in elderly hip fracture inpatients

OBJECTIVE: To examine the range of behaviors documented by inpatient rehabilitation staff and the association of these behaviors with functional outcome, in elderly persons undergoing rehabilitation after hip fracture. METHOD: Subjects were 137 patients, aged 60 and older, admitted to a rehabilitation hospital after a hip fracture, defined as having either a good or poor rehabilitation outcome based on change in Functional Independence Measure motor subscale scores during the course of their admission. Their charts were systematically reviewed for nursing and therapy staff documentation of behaviors. Prevalence of behaviors was compared between good and poor rehabilitation outcome group. RESULTS: Disturbances in cognition and rehabilitation participation were common and were associated with poorer rehabilitation outcome. Behaviors reflective of depression and anxiety were relatively uncommon and not associated with rehabilitation outcome. CONCLUSION: Rehabilitation staff frequently detect and document disturbances in cognition and participation that are associated with poorer rehabilitation outcome. It is recommended that staff observations be routinely added to mental health evaluations. Additionally, routine mental health screening and required staff documentation of behaviors would improve case detection rate.