Netherton syndrome: Temporary response to dupilumab

Netherton syndrome (NS) is an orphan disease characterized by congenital ichthyosis, hair abnormalities, and atopy, with limited treatment options. We achieved temporary improvement only during the initial 6 weeks of treatment with dupilumab, which differs from the sustained improvement observed in 2 other recently published cases. Although the clinical presentation of atopy and increased pre-allergic cytokines in NS patients suggest that dupilumab may be beneficial, larger studies are required.     

Establishing the Turkish version of the SIGAM mobility scale,and determining its validity and reliability in lower extremity amputees

Purpose: The aim of this study is to adapt the Special Interest Group in Amputee Medicine (SIGAM) mobility scale to Turkish, and to test its validity and reliability in lower extremity amputees.

Material and methods: Adaptation of the scale into Turkish was performed by following the steps in American Association of Orthopedic Surgeons (AAOS) guideline. Turkish version of the scale was tested twice on 109 patients who had lower extremity amputations, at hours 0 and 72. The reliability of the Turkish version was tested for internal consistency and test–retest reliability. Structural validity was tested using the “scale validity” method. For this purpose, the scores of the Short Form-36 (SF-36), Functional Ambulation Scale (FAS), Get Up and Go Test, and Satisfaction with the Prosthesis Questionnaire (SATPRO) were calculated, and analyzed using Spearman’s correlation test.

Results: Cronbach’s alpha coefficient was 0.67 for the Turkish version of the SIGAM mobility scale. Cohen's kappa coefficients were between 0.224 and 0.999. Repeatability according to the results of the SIGAM mobility scale (grades A–F) was 0.822. We found significant and strong positive correlations of the SIGAM mobility scale results with the FAS, Get Up and Go Test, SATPRO, and all of the SF-36 subscales.

Conclusion: In our study, the Turkish version of the SIGAM mobility scale was found as a reliable, valid, and easy to use scale in everyday practice for measuring mobility in lower extremity amputees.

• Implications for Rehabilitation

• Amputation is the surgical removal of a severely injured and nonfunctional extremity, at a level of one or more bones proximal to the body.

• Loss of a lower extremity is one of the most important conditions that cause functional disability.

• The Special Interest Group in Amputee Medicine (SIGAM) mobility scale contains 21 questions that evaluate the mobility of lower extremity amputees.

• Lack of a specific Turkish scale that evaluates rehabilitation results and mobility of lower extremity amputees, and determines their needs, directed us to perform a study on this topic when we took the number of amputations performed in our country into consideration.

• SIGAM mobility scale is directed at rehabilitation specialists who are working in amputee medicine. Turkish version of this scale was found both reliable and valid in our study and hence it can be used in clinical practice and studies.

     

Dilation of the ascending aorta after balloon valvuloplasty for aortic stenosis during infancy and childhood

Dilation of the ascending aorta (AA) is common in patients with a bicuspid aortic valve. The natural history of the aortic root and AA and the risk factors for dilation have not been characterized in patients with congenital aortic stenosis (AS) treated with balloon valvuloplasty during childhood. The present study was performed to determine the prevalence of aortic dilation in patients with congenital AS before and up to 20 years after balloon valvuloplasty performed during childhood. In patients who underwent balloon valvuloplasty for AS at age ≤18 years from 1984 to 2005, the aortic diameter measurements before intervention and at 5-year intervals afterward were recorded and the Z scores calculated. Among 156 patients (median age 1.5 years at valvuloplasty), the AA Z scores were significantly larger than normal before intervention (median Z score 1.5) and at all follow-up points (all p <0.001). Using mixed modeling, with time as a categorical variable (before intervention, 5-year window, 10-year window, and so forth), the mean AA Z score was greater at all postvalvuloplasty points than before the intervention, with mean Z score increases of 1.20 at 5 years and 2.11 at 20 years (p <0.001). Moderate or greater aortic regurgitation early after valvuloplasty was associated with greater AA Z scores than mild or less aortic regurgitation, with a progressive difference over time. More significant residual AS after valvuloplasty was associated with lower AA Z scores over time. In conclusion, AA dilation is common in children with congenital AS and continues to progress over many years after balloon valvuloplasty.     

Relation between NT-proBNP levels, iron overload, and early stage of myocardial dysfunction in β-thalassemia major patients

Background: Heart failure (HF) secondary to myocardial iron loading remains the leading cause of death in β‐thalassemia major (β‐TM) patients. The early diagnosis and treatment of HF in these patients is related to survival. We aimed to evaluate myocardial performance using conventional and tissue Doppler echocardiography and its relation to plasma NT‐proBNP levels and iron overload indices in β‐TM patients with preserved systolic function. Methods: The study population included 49 β‐TM patients (24.0 ± 4.2 years) and 48 age‐matched healthy controls. Doppler‐echocardiographic study was performed and blood samples for NT‐proBNP measurements were drawn on the third day following blood transfusion. Patients were divided as group‐1, without diastolic dysfunction: E/E′ ratio < 9 and group‐2, with suspected diastolic dysfunction: E/E′ ratio ≥ 9. Results: NT‐proBNP levels and E/E′ ratio were increased in patients compared with controls (P < 0.001 and P < 0.001) but did not correlate with each other. A strong positive correlation was detected between NT‐proBNP levels and mean ferritin levels in β‐TM patients (r_s= 0.939; P < 0.001). Median NT‐proBNP levels were significantly higher in group‐1 in comparison to controls [51.2 (41.51–113.5) vs 30.1 (17.97–68.16) ng/mL, P < 0.01]. NT‐proBNP levels were also increased in group‐2 in comparison to group‐1 but this increase was not statistically significant. Conclusion: NT‐proBNP secretion begins in the early phase of the disease before the increase in diastolic pressure becomes overt. While there was a strong correlation between the plasma NT‐proBNP levels and iron overload, there was no correlation between NT‐proBNP levels and diastolic dysfunction parameters in patients in the third decade of life. (Echocardiography 2012;29:318‐325)     

Adsorption kinetics of aromatic compounds on carbon nanotubes and activated carbons

Adsorption kinetics of two organic compounds on four types of carbonaceous adsorbents (a granular activated carbon [HD4000], an activated carbon fiber [ACF10], a single-walled carbon nanotube [SWNT], and a multiwalled carbon nanotube [MWNT]) was examined in aqueous solutions. The times needed for the adsorption to reach apparent equilibrium on the four carbons followed the order of ACF10?>?HD4000?>?SWNT?>?MWNT. Ultrasonication of the carbon nanotubes (CNTs) accelerated their adsorption kinetics but had no effect on their equilibrium adsorption capacities. The pseudo-second order model (PSOM) provided good fitting for the kinetic data. The fitting of kinetic data with the intraparticle diffusion model indicated that external mass transfer controls the sorption process in the organic compound-CNT systems, whereas intraparticle diffusion dominates in the sorption of organic compounds onto activated carbons.     

Chronic administration of fluoxetine or venlafaxine induces memory deterioration in an inhibitory avoidance task in rats

Antidepressants inhibiting the reuptake of both serotonin and norepinephrine may exhibit efficacy superior to that of selective serotonin reuptake inhibitors (SSRIs). Since the clinical effects of antidepressants appear gradually following weeks of treatment, the present study was designed to investigate if there is a benefit to long‐term administration of the SSRI, fluoxetine, in comparison with venlafaxine, a 5‐HT/norepinephrine (5‐HT/NE) reuptake inhibitor (SNRI; both 20 mg/kg ip, once a day for 14 days) in a one‐trial step‐through passive avoidance task in rats. Locomotor activity was evaluated to assess the effects of the drugs on the motility of the animals. The comparison of training latencies versus test latencies showed inhibition of passive avoidance learning in fluoxetine‐ or venlafaxine‐treated rats (e.g., no significant difference between training and test latencies) in a step‐through test. There was no significant difference between fluoxetine‐ and venlafaxine‐induced reduction of latency in rats in this test. Drug Dev. Res. 67:456–461, 2006. © 2006 Wiley‐Liss, Inc.