Vitamin D deficiency in myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a multisystemic disorder affecting, among others, the endocrine system, with derangement of steroid hormones functions. Vitamin D is a steroid recognized for its role in calcium homeostasis. In addition, vitamin D influences muscle metabolism by genomic and non-genomic actions, including stimulation of the insulin-like-growth-factor 1 (IGF1), a major regulator of muscle trophism. To verify the presence of vitamin D deficit in DM1 and its possible consequences, serum 25-hydroxyvitamin D (25(OH)D), calcium, parathormone (PTH), and IGF1 levels were measured in 32 DM1 patients and in 32 age-matched controls. Bone mineral density (BMD) and proximal muscle strength were also measured by DXA and a handheld dynamometer, respectively. In DM1 patients, 25(OH)D levels were reduced compared to controls, and a significant decrease of IGF1 was also found. 25(OH)D levels inversely correlated with CTG expansion size, while IGF1 levels and muscle strength directly correlated with levels of 25(OH)D lower than 20 and 10 ng/ml, respectively. A significantly higher percentage of DM1 patients presented hyperparathyroidism as compared to controls. Calcium levels and BMD were comparable between the two groups. Oral administration of cholecalciferol in 11 DM1 patients with severe vitamin D deficiency induced a normal increase of circulating 25(OH)D, ruling out defects in intestinal absorption or hepatic hydroxylation. DM1 patients show a reduction of circulating 25(OH)D, which correlates with genotype and may influence IGF1 levels and proximal muscle strength. Oral supplementation with vitamin D should be considered in DM1 and might mitigate muscle weakness.     

Cognitive and MRI correlates of orthostatic hypotension in Parkinson’s disease

Orthostatic hypotension (OH) is a frequent nonmotor feature of Parkinson’s disease (PD), and its occurrence has been associated with cognitive impairment. The underlying mechanism could be mediated by development of cerebrovascular disease induced by chronic or episodic hypoperfusion, but the extent of brain vascular load in PD patients with OH has never been investigated. This study aimed to assess the relationship between OH and cognitive function in PD patients and to investigate the contribution of brain vascular lesions. Forty-eight PD patients underwent a tilt table test (TT) to assess supine and orthostatic blood pressure as well as an extensive neuropsychological evaluation to evaluate cognitive function. Brain magnetic resonance imaging was acquired in 44/48 patients and analyzed by a visual semiquantitative scale. Twenty-three patients presented OH at TT (13/23 were symptomatic), and 25 did not. There were no differences in motor severity or disease duration between patients with and without OH. In patients with OH we found significantly worse cognitive performance in specific tasks, such as sustained attention, visuospatial and verbal memory, compared with patients without OH. However, there were no differences in vascular burden between the two groups. Our study confirms that there is an association between OH and selective cognitive deficits in PD, but rebuts the hypothesis that this is underlined by the development of cerebrovascular disease.     

Do catastrophizing and autonomic-reduced flexibility mediate pain outcomes in chronic headache?

Neurological Sciences - Maladaptive cognitive strategies and reduced autonomic flexibility have been reported in chronic pain conditions. No study to date addressed the effects of maladaptive...     

Long-term efficacy of the trans-obturator and retropubic mid-urethral slings for stress urinary incontinence: update from a randomized clinical trial

Purpose

To report the extended long-term results of the use of tension-free vaginal tape(TVT) and trans-obturator tape (TOT) for the treatment of female stress urinary incontinence (SUI).

Methods

A prospective, multicentre randomized clinical trial comparing the use of TVT and TOT was used to evaluate 87 patients. The inclusion criteria were stress or mixed UI associated with urethral hyper mobility (the stress component was clinically predominant), while the exclusion criteria were previous anti-incontinence surgery and/or pelvic organ prolapse. The objective cure criteria were a negative provocative stress test and a negative 1-h pad test, with no further treatment for SUI. The subjective cure criteria were a 3-day voiding diary, quality-of-life questionnaires (UDI6–IIQ7), and patient satisfaction on a scale from 0 to 10.

Results

Eighty-seven patients were evaluated (47 TOT and 40 TVT) at a median follow-up of 100 months. Subjective and objective cure rates were 59.6 and 70.2 % in the TOT group and 75 and 87.5 % in the TVT group. The mid-to-long-term trend was a decreasing continence rate in patients who underwent TOT, compared with a stable rate for TVT. The Kaplan–Meier survival curve showed that continence rate decreased for up to 25 months after surgery, with stabilization thereafter for the TVT group while continuing to drop in the TOT group, with no inter-group difference.

Conclusion

The patients in both groups were highly satisfied at long-term follow-up. The overall continence rate worsened for both groups within 25 months. While the results tend to stabilize in the TVT group, a further decline in the TOT was observed.

     

The influence of spatial coordinates in a case of an optic ataxia-like syndrome following cerebellar and thalamic lesion

We report the case of a patient (S.C.) who, after a lesion involving the midbrain, thalamus, and cerebellum on the left side, was unable to reach a target at which he was not directly gazing. When attempting to do so with either hand, he showed an optic ataxia-like behaviour: A rightward deviation was manifest with respect to the real position of the target object, accuracy being worse for the right than for the left hand and for the right than for the left hemifield. To assess whether S.C.'s reaching accuracy was affected by the position of the target with respect to the retina, eyes, and/or head, he was asked to perform a pointing task in different conditions. By manipulating eyes and head position, the relative location of the target with respect to these body parts was altered. Further, to verify the relevance of the visual feedback for the accuracy of the reaching responses, the task was also performed either with or without vision of the performing hand (closed- and open-loop conditions). The results showed that the patient's reaching impairment reflects a deficit in spatio-motor coding mainly within head-centred coordinates. The lack of visual feedback about the hand spatial location worsened the reaching performance. This new pattern of reaching deficits is discussed in relation to the theoretical framework of both parietal optic ataxia and cerebellar ataxia.     

Fine-tuning of social play in juvenile lowland gorillas (gorilla gorilla gorilla)

Social play, which involves cooperation, communication, and learning, may represent a suitable field for the investigation of cognitive ability in a given species. We collected data on a captive group of gorillas in order to evaluate the potential cognitive skill of juveniles in fine-tuning play behavior. This study revealed that juvenile gorillas are able to "place" the play session in a proper spatial/temporal context, thus evaluating a complex net of factors (e.g., play partner, play roughness, group activity, space availability). When animals play fight, they use patterns of agonistic functional contexts. Since these actions are not intrinsically different from their "serious" context, it may be hard to distinguish them. One of the most important function of play in the ontogeny of primate social cognition may be to recognize stimuli, which may indicate the intentions of conspecifics. Accordingly, we found that juvenile gorillas are able to use play signals appropriately when a clear statement of purpose is necessary (i.e., during male-male competitive play sessions and when the escape opportunities are limited). The ability to interpret such ambiguous features of social signaling could represent a central issue in the evolution of behavioral flexibility and intelligence in primates.     

Incidence and Risk Factors for Hepatitis C Virus Infection among Illicit Drug Users in Italy

So far, only three small outdated studies have investigated hepatitis C virus (HCV) incidence and risk factors among illicit drug users (DUs) in Italy. Thus, during 2007–2010, we conducted a prospective cohort study among DUs attending 17 Italian rehabilitation centers serving urban areas. Two hundred eighty-four HCV-uninfected DUs were prospectively followed by interview and anti-HCV antibody and RNA testing every 6 months. Incidence was calculated using the person-years method. Infection predictors were assessed by time-dependent Cox analysis. Participants were mostly male (83.4%), under opioid substitution therapy (OST) (78.9%), non-injecting DUs (67.9%), and with a mean age of 30.8. Ninety-one of 224 DUs initially under OST interrupted treatment during the follow-up. Overall HCV incidence was 5.83/100 person-years at risk (PYAR) [95% confidence intervals (CI), 3.63–9.38]. The incidence did not significantly differ according the participants’ sociodemographic characteristics or the degree of urbanization of the towns involved in the study. The incidence was higher for DUs under than for those not under OST (6.23 vs 4.50/100 PYAR; p = 0.681). Incidence was also higher for those with than for those without OST interruption (7.17 vs 5.04/100 PYAR; p = 0.55). However, all these differences were non-significant. At last follow-up visit, a significant decrease in frequency of sharing equipment for preparation/using drugs (by injection or not) was observed by analyzing either the whole cohort or DUs under OST only. Anti-HCV seroconversion resulted independently associated with sharing drug preparation/use equipment, backloading, having a HCV-positive sexual partner, or household and (marginally) intravenous injection. In this study, HCV incidence was non-negligible and OST seemed to lack effectiveness in reducing it. In Italy, implementation of combined harm reduction interventions and antiviral treatment of chronically infected DUs would be needed.