Functional Assessment of Lower Extremities in Hereditary Spastic Paraplegia

Braschinsky M, Parts K, Maamägi H, Gross-Paju K, Haldre S. Functional assessment of lower extremities in hereditary spastic paraplegia.

Objectives

To characterize the spasticity and range of motion (ROM) in patients with hereditary spastic paraplegia (HSP) and to correlate these parameters with walking speed.

Design

An observational population-based cohort study.

Setting

Patient data were acquired from a population-based epidemiologic study performed earlier in Estonia.

Participants

Persons (N=46) (mean age, 50.1y) with clinically confirmed HSP diagnosis (mean duration, 20.9y) participated in the study.

Interventions

Active and passive ROMs were measured with a plastic 360° goniometer. Spasticity was evaluated by using the modified Ashworth scale (MAS). The time it took a patient to walk 10m was recorded.

Main Outcome Measures

Measurements included testing of active and passive ROM as a marker for mobility, the MAS for spasticity, and time to complete a 10-m walk.

Results

A higher degree of spasticity in hip muscles was associated with lower values of active ROM and slower walking. Walking speed was negatively correlated to disease duration and participant age.

Conclusions

The present study provides analysis of the contributions of spasticity and ROM to walking speed in HSP, both factors negatively influence gait in persons with HSP.     

Outcomes of Transcatheter Aortic Valve Replacement in Mixed Aortic Valve Disease

ObjectivesThe aim of this study was to compare outcomes after transcatheter aortic valve replacement (TAVR) in patients with pure aortic stenosis (AS) (i.e., no or trivial associated aortic regurgitation [AR]) with those in patients with AS and mild or more severe AR (i.e., mixed aortic valve disease [MAVD]).BackgroundTAVR is indicated in treating patients with severe AS. Limited data exist regarding the outcomes of TAVR in patients with MAVD.MethodsA total of 1,133 patients who underwent TAVR between January 2014 and December 2017 were included. The primary outcome was all-cause mortality. The comparison was adjusted to account for post-TAVR AR development in both groups. The secondary outcomes included composite endpoints of early safety and clinical efficacy as specified in the Valve Academic Research Consortium-2 criteria. Variables were compared using Mann-Whitney, chi-square, and Fisher exact tests, while Kaplan-Meier analyses were used to compare survival.ResultsA total of 688 patients (61%) had MAVD (median age 83 years , 43% women). Among these, 17% developed mild, 2% moderate, and <1% severe post-TAVR AR. Overall, patients with MAVD had better survival compared with patients with pure AS (p = 0.03). Among patients who developed post-TAVR AR, those in the MAVD group had better survival (p = 0.04). In contrast, in patients who did not develop post-TAVR AR, pre-TAVR AR did not improve survival (p = 0.11).ConclusionsPatients with MAVD who underwent TAVR had better survival compared with patients with pure AS. This is explained by the better survival of patients with MAVD who developed post-TAVR AR, likely due to left ventricular adaptation to AR.     

Syndrome de Tako Tsubo révélant une hémorragie méningée par rupture d’anévrisme

Cerebral hemorrhage is usually associated to many cardiac disorders, mimicking acute coronary syndrome. We relate a case of a postmenopausal woman presenting at emergency room for acute coronary syndrome and whose evaluation revealed a subarachnoidal hemorrhage, normal coronary arteries, and a typical Tako Tsubo aspect on echocardiography with apical ballooning and hyperkinesis with basal hypokinesis.     

Altération de la variabilité sinusale chez les malades en hémodialyse chronique

Background and aim

Decrease in heart rate variability (HRV) is a known risk factor for cardiovascular morbidity and mortality. The aim of our study is to evaluate HRV in chronic hemodialysis patients and to determine factors that might decrease or increase it.

Methods

This is a retrospective study including 51 patients, 23 males and 28 females, with a mean of age of 64.5 years (23-84 years) on chronic hemodialysis for end stage renal disease due to various causes. Twenty-four-hour heart rate monitoring was recorded in all patients to evaluate HRV. HRV of hemodialysis patients was compared to normal patients (control). We also looked for correlation between HRV and a number of clinical and biological factors.

Results

All HRV parameters were decreased in chronic hemodialysis patients compared to normal controls with a significant difference (p < 0.0005). HRV decreases with age (p = 0.012), and is lower in diabetic patients (p = 0.026). Interestingly, we found that chronic hemodialysis patients on beta-blockers had higher HRV with p = 0.011.

Conclusion

HRV is reduced in chronic hemodialysis patients mainly in old and diabetic patients, but this decrease is less important in those receiving beta-blockers.     

Pyoderma gangrenosum and exacerbation of psoriasis resulting from pegylated interferon alpha and ribavirin treatment of chronic hepatitis C

Interferon therapy is the cornerstone of chronic hepatitis C treatment. Side effects of interferon include possible triggering or exacerbation of immune diseases in consequence of immunomodulatory effects. We describe the unique case, in which pyoderma gangrenosum and exacerbation of psoriasis were developed 8 weeks after pegylated interferon alpha 2a and ribavirin therapy in a 45-year-old woman. The therapy had to be stopped on account of pyoderma gangrenosum and exacerbation of psoriasis in spite of a biochemical response to the therapy for hepatitis C. The evolution was favorable after stopping treatment. Therefore, we propose this would suggest a possible autoimmune mechanism for the development of pyoderma gangrenosum and exacerbation of psoriasis with pegylated interferon therapy. A susceptible patient, who has an autoimmune disease before interferon therapy, had to be informed that interferons may induce de novo or exacerbate existing immune diseases by immunomodulatory actions. To the best of our knowledge, this is the first case report of pyoderma gangrenosum and psoriasis that resulted from pegylated interferon alpha 2a and ribavirin treatment of chronic hepatitis C.     

Arterial stiffness in elderly patients with normotension and hypertension in Brazil

Data on arterial stiffness in older populations, according to blood pressure (BP) levels, are scarce in Brazil. The objective of this study was to establish reference values for core measures of arterial stiffness, including carotid‐femoral pulse wave velocity (cf‐PWV) and aortic augmentation index (AIx), in a cohort of older individuals with normotension (NT) and hypertension. Cross‐sectional analysis was performed with applanation tonometry data from 1192 patients aged 60 years or older. The authors classified patients according to their BP levels as having NT, controlled hypertension (CH), and uncontrolled hypertension (UH). The cf‐PWV values were 9.11 ± 0.16 m/s (NT), 9.12 ± 0.18 m/s (CH), and 9.42 ± 2.2 m/s (UH) (P < 0.005; UH vs NT and CH). The AIx was 33.3% for the entire cohort and similar across all groups. The cf‐PWV increased with age but reached a ceiling at 75 years. Compared with men, women had a higher AIx but similar cf‐PWV levels. In conclusion, the markers of arterial stiffness were similar among individuals with NT/CH and higher among individuals with UH.     

Biventricular thrombus and associated myocardial infarction in a rheumatoid arthritis patient: a case report and literature review

Autoimmune diseases including rheumatoid arthritis have an increased incidence of cardiovascular disease. Rheumatoid arthritis (RA) confers a prothrombotic state and is associated with venous thrombosis, but its association with arterial thrombosis and embolism is not clear. In present report, we introduce a unique case of a 42-year-old woman with RA, who was admitted to the emergency service with back pain and diagnosed as having large right and left ventricular thrombus and myocardial infarction, associated with embolization of the thrombus. We also review the literature about RA and arterial and intraventricular thrombosis.     

Kainate down-regulates a subset of GABA<Subscript>A</Subscript> receptor subunits expressed in cultured mouse cerebellar granule cells

The effect of kainate, an agonist selective for ionotropic AMPA/kainate type of glutamate receptors, on GABAA receptor subunit expression in cultured mouse cerebellar granule cells was studied using quantitative RT-PCR, ligand binding and electrophysiology. Chronic kainate treatment, without producing excitotoxicity, resulted in preferential, dose- and time-dependent down-regulation of alpha1, alpha6 and beta2 subunit mRNA expression, the expression of beta3, gamma2 and delta subunit mRNAs being less affected. The down-regulation was reversed by DNQX, an AMPA/kainate-selective glutamate receptor antagonist. A 14-day kainate treatment resulted in 46% decrease of total [3H]Ro 15-4513 binding to the benzodiazepine sites. Diazepam-insensitive [3H]Ro 15-4513 binding was decreased by 89% in accordance with very low amount of alpha6 subunit mRNA present. Diazepam-sensitive [3H]Ro 154513 binding was decreased only by 40%, contrasting >90% decrease in alpha1 subunit mRNA expression. However, this was consistent with lower potentiation of GABA-evoked currents in kainate-treated than control cells by the alpha1-selective benzodiazepine site ligand zolpidem, suggesting compensatory expression of alpha5 (and/or alpha2 or alpha3) subunits producing diazepam-sensitive but zolpidem-insensitive receptor subtypes. In conclusion, chronic kainate treatment of cerebellar granule cells selectively down-regulates oil, alpha6 and beta2 subunits resulting in altered GABAA receptor pharmacology.     

Clinical diagnostic criteria for premenstrual syndrome and guidelines for their quantification for research studies.

Premenstrual syndrome (PMS) encompasses a variety of symptoms appearing during the luteal phase of the menstrual cycle. Although PMS is widely recognized, the etiology remains unclear and it lacks definitive, universally accepted diagnostic criteria. To address these issues an international multidisciplinary group of experts evaluated the current definitions and diagnostic criteria of PMS and premenstrual dysphoric disorder (PMDD). Following extensive correspondence, a consensus meeting was held with the aim of producing updated diagnostic criteria for PMS and guidelines for clinical and research applications. This report presents the conclusions and recommendations of the group. It is hoped that the criteria proposed by the group will become widely accepted and eventually be incorporated into the next edition of the World Health Organization's International Classification of Diseases (ICD-11). It is also hoped that the proposed guidelines for quantification of criteria will be used by clinicians and investigators to facilitate diagnostic uniformity in the field as well as adequate treatment modalities when warranted.     

The Evolution of Invasiveness in Garden Ants

It is unclear why some species become successful invaders whilst others fail, and whether invasive success depends on pre-adaptations already present in the native range or on characters evolving de-novo after introduction. Ants are among the worst invasive pests, with Lasius neglectus and its rapid spread through Europe and Asia as the most recent example of a pest ant that may become a global problem. Here, we present the first integrated study on behavior, morphology, population genetics, chemical recognition and parasite load of L. neglectus and its non-invasive sister species L. turcicus. We find that L. neglectus expresses the same supercolonial syndrome as other invasive ants, a social system that is characterized by mating without dispersal and large networks of cooperating nests rather than smaller mutually hostile colonies. We conclude that the invasive success of L. neglectus relies on a combination of parasite-release following introduction and pre-adaptations in mating system, body-size, queen number and recognition efficiency that evolved long before introduction. Our results challenge the notion that supercolonial organization is an inevitable consequence of low genetic variation for chemical recognition cues in small invasive founder populations. We infer that low variation and limited volatility in cuticular hydrocarbon profiles already existed in the native range in combination with low dispersal and a highly viscous population structure. Human transport to relatively disturbed urban areas thus became the decisive factor to induce parasite release, a well established general promoter of invasiveness in non-social animals and plants, but understudied in invasive social insects.