Sources of cortical rhythms change as a function of cognitive impairment in pathological aging: a multicenter study.

OBJECTIVE: The present study tested the hypothesis that cortical electroencephalographic (EEG) rhythms. change across normal elderly (Nold), mild cognitive impairment (MCI), and Alzheimer's disease (AD) subjects as a function of the global cognitive level. METHODS: Resting eyes-closed EEG data were recorded in 155 MCI, 193 mild AD, and 126 age-matched Nold subjects. EEG rhythms of interest were delta (2-4 Hz), theta (4-8 Hz), alpha 1 (8-10.5 Hz), alpha 2 (10.5-13 Hz), beta 1 (13-20 Hz), and beta 2 (20-30 Hz). EEG cortical sources were estimated by LORETA. RESULTS: Occipital delta and alpha 1 sources in parietal, occipital, temporal, and 'limbic' areas had an intermediate magnitude in MCI subjects compared to mild AD and Nold subjects. These five EEG sources presented both linear and nonlinear (linear, exponential, logarithmic, and power) correlations with the global cognitive level (as revealed by mini mental state examination score) across all subjects. CONCLUSIONS: Cortical EEG rhythms change in pathological aging as a function of the global cognitive level. SIGNIFICANCE: The present functional data on large populations support the 'transitional hypothesis' of a shadow zone across normality, pre-clinical stage of dementia (MCI), and AD.     

Myoclonic encephalopathy in the CDKL5 gene mutation.

OBJECTIVE: Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation. METHODS: We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.5, 7.4, and 9.4 years, each with a mutation of the CDKL5 gene. RESULTS: We revealed the presence of an encephalopathy that started by 1.5 months of age. At first, seizures involved tonic spasms or complex partial seizures, and were complicated by the later appearance of complex partial, tonic, and unexpectedly, myoclonic seizures. This form of epilepsy was drug resistant. Routine and prolonged video EEGs both displayed a homogeneous electroclinical pattern consisting of (a) unique background with diffuse high voltage sharp waves of 6-7 Hz, and absence of the typical rhythmic frontal-central theta activity present in Rett syndrome; (b) unique awake and sleep background, with diffuse, high voltage, continuous sharp waves with multifocal and diffuse spikes; (c) rhythmic, diffuse, 15 Hz activity accompanied clinically by tonic seizures; (d) intercritical pattern with pseudoperiodic, diffuse, sharp waves or pseudoperiodic, diffuse spike and polyspike or wave discharges; and (e) diffuse, spike, polyspike and wave discharges accompanied by massive or focal myoclonias or both. CONCLUSIONS: Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern. SIGNIFICANCE: Recognizing this type of encephalopathy could be useful in prompting clinicians to proceed further with their diagnostic work in patients not fitting the criteria of classical Rett syndrome.     

Diagnosis and management of severe atherosclerosis of the ascending aorta and aortic arch during cardiac surgery: focus on aortic replacement

Objective: Severe atherosclerosis of the ascending aorta and arch frequently causes difficulties during heart operations, hindering surgical manoeuvres and potentially leading to systemic embolism. The aim of our study was to assess the safety and effectiveness of replacing the atherosclerotic ascending aorta in this setting. Methods: Aortic atherosclerosis was characterized by epiaortic ultrasonographic scanning in 90.1% of 1927 consecutive adult patients undergoing cardiac operations, and by computed tomographic chest scanning in selected cases. Thirty-six of the 152 patients requiring major derangements from our standard practice due to aortic atherosclerosis underwent replacement of the ascending aorta and constitute the study group. Replacement of the aorta was extended to the arch in 13 cases (36.1%). It was associated with single or multiple valve surgery in 34 patients (94.4%) and with coronary revascularization in 30 (83.3%). Two patients (5.6%) underwent coronary bypass grafting without valve surgery. A cryoablation procedure was associated in three patients with permanent atrial fibrillation. Deep hypothermic circulatory arrest was employed in 34 patients (94.4%), while proximal aortic disease allowed conventional distal crossclamping in 2 cases. The risk of operative mortality was estimated by the logistic EuroSCORE both with and withholding the variable ‘surgery of the thoracic aorta’. All survivors were followed-up for 1–41 months (16 ± 12). Results: Two patients died in the hospital (5.6%) and two during follow-up, for a cumulative survival of 91.3% and 85.6% at 1 and 3 years, respectively (hospital deaths included). The hospital death rate compared favourably with the expected estimates of 25.5% (p < 0.05) and 10.3% (p = 0.67) obtained by the EuroSCORE full model and without ‘aortic surgery’, respectively. In-hospital adverse neurologic events occurred in six patients (16.7%), including stroke in one patient (2.8%) and neurocognitive disturbances in five (13.9%), although they were all transient and cleared before discharge. Excess bleeding required re-exploration in four patients (11.1%), and one more patient underwent emergency grafting for acute postoperative coronary occlusion. Ten patients (38.5%) were intubated for longer than 24 h. Conclusion: Despite significant perioperative morbidity, replacement of the severely atherosclerotic aorta is worth consideration to avert expectedly higher death and stroke rates.     

Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing

A new strategy has been developed for rapid haplotype analysis based on an initial multiplex amplification of several polymorphic sites, followed by heteroduplex detection. Heteroduplexes formed between two different alleles are detected because they migrate differently than the corresponding homoduplexes in Hydrolink-MDE gel. This simple, rapid method does not depend on specific sequences such as restriction enzyme sites or CA boxes and does not require the use of isotope. This approach has been tested using commonly occurring polymorphisms spanning the dystrophin gene as a model. We describe the use of the method to assign the carrier status of females in Duchenne muscular dystrophy (DMD) pedigrees. The method may be used for other genetic diseases when mutations are unknown or there are few dinucleotide markers in the gene proximity, and for the identification of haplotype backgrounds of mutant alleles. © 1995 Wiley-Liss, Inc.     

Light reflection rheography and thoracic outlet syndrome

The authors have studied with a light reflection rheograph (LRR) 112 cases: 54 patients with suspected "thoracic outlet syndrome" (TOS) in the functional phase, 28 patients with phlebothrombosis localized in upper limbs, and a control group of 30 healthy subjects to evaluate the upper limbs' venous outlet. They recorded a good correlation among results obtained with LRR, clinical examination, Doppler, and phlebographic examination. The data obtained lead them to propose this methodology as an important examination in the evaluation of upper thoracic pathology.     

Preliminary results of a multicentre trial of the electrically stimulated gracilis neoanal sphincter

BACKGROUND: The electrically stimulated gracilis neoanal sphincter was initially developed to treat refractory incontinence. Good early results were reported from the two centres that pioneered the technique. The aim of this study was to assess the operation in a prospective multicentre setting. METHODS: The procedure was performed on 64 patients from seven centres worldwide and was performed in stages. All patients were evaluated clinically and manometrically before and after operation. RESULTS: There was a high incidence of infective and hardware-related complications. At a median of 10 months following closure of the defunctioning stoma 56 per cent had experienced a good functional result. The major functional problems comprised evacuatory difficulties experienced by 25 per cent. CONCLUSION: The technique is effective in treating otherwise refractory incontinence. It is, however, a complex procedure and the morbidity rate may be high, particularly during the learning curve, factors that necessitate careful patient selection. Presented to the Association of Surgeons of Great Britain and Ireland in Bournemouth, UK, April 1997 and the European Council of Coloproctology in Edinburgh, UK, June 1997; and published in abstract form as Br J Surg 1997; 88(Suppl): 39 and Int J Colorectal Dis 1997; 12: 144     

Botulinum Toxin A for Oral Cavity Cancer Patients: In Microsurgical Patients BTX Injections in Major Salivary Glands Temporarily Reduce Salivary Production and the Risk of Local Complications Related to Saliva Stagnation

In patients suffering from oral cavity cancer surgical treatment is complex because it is necessary to remove carcinoma and lymph node metastasis (through a radical unilateral or bilateral neck dissection) and to reconstruct the affected area by means of free flaps. The saliva stagnation in the post-operative period is a risk factor with regard to local complications. Minor complications related to saliva stagnation (such as tissue maceration and wound dehiscence) could become major complications compromising the surgery or the reconstructive outcome. In fact the formation of oro-cutaneous fistula may cause infection, failure of the free flap, or the patient’s death with carotid blow-out syndrome. Botulinum injections in the major salivary glands, four days before surgery, temporarily reduces salivation during the healing stage and thus could reduce the incidence of saliva-related complications. Forty three patients with oral cancer were treated with botulinum toxin A. The saliva quantitative measurement and the sialoscintigraphy were performed before and after infiltrations of botulinum toxin in the major salivary glands. In all cases there was a considerable, but temporary, reduction of salivary secretion. A lower rate of local complications was observed in the post-operative period. The salivary production returned to normal within two months, with minimal side effects and discomfort for the patients. The temporary inhibition of salivary secretion in the post-operative period could enable a reduction in saliva-related local complications, in the incidence of oro-cutaneous fistulas, and improve the outcome of the surgery as well as the quality of residual life in these patients.     

Presence of Hepatitis E Virus in a RED Deer (Cervus elaphus) Population in Central Italy

Hepatitis E is an acute human disease caused by the hepatitis E virus (HEV). In addition to humans, HEV has been detected in several animal species and is recognized as a zoonotic pathogen. Pigs, wild boar and deer can be reservoir. In this study, we evaluated HEV prevalence in a free‐living red deer (Cervus elaphus) population in central Italy by detecting virus‐specific antibodies and RNA in sera. A total of 35 of 251 red deer sera were positive for anti‐HEV IgG. HEV RNA was detected in 10 of 91 sera examined. Two genomic fragments targeted by diagnostic PCRs in the capsid region were sequenced, both matching with genotype 3 HEV. Overall results confirmed the occurrence of HEV infection in deer also in Italy.     

From the Cover: Emergence of dynamic vortex glasses in disordered polar active fluids

In equilibrium, disorder conspires with topological defects to redefine the ordered states of matter in systems as diverse as crystals, superconductors, and liquid crystals. Far from equilibrium, however, the consequences of quenched disorder on active condensed matter remain virtually uncharted. Here, we reveal a state of strongly disordered active matter with no counterparts in equilibrium: a dynamical vortex glass. Combining microfluidic experiments and theory, we show how colloidal flocks collectively cruise through disordered environments without relaxing the topological singularities of their flows. The resulting state is highly dynamical but the flow patterns, shaped by a finite density of frozen vortices, are stationary and exponentially degenerated. Quenched isotropic disorder acts as a random gauge field turning active liquids into dynamical vortex glasses. We argue that this robust mechanism should shape the collective dynamics of a broad class of disordered active matter, from synthetic active nematics to collections of living cells exploring heterogeneous media.

From a physicist’s perspective, flocks are ensembles of living or synthetic motile units collectively moving along a common emerging direction (1–4). They realize one of the most robust ordered states of matter observed over five orders of magnitude in scale and in systems as diverse as motility assays, self-propelled colloids, shaken grains, and actual flocks of birds (3, 5–10). The quiet flows of flocks are in stark contrast with the spatiotemporal chaos consistently reported and predicted in active nematic liquid crystals, another abundant form of ordered active matter realized in biological tissues, swimming cells, cellular extracts, and shaken rods (2, 11). Active nematics do not support any form of long-range order (4, 12). Their structure is continuously bent and destroyed by the proliferation and annihilation of singularities in their local orientation: topological defects (11, 13–15). Unlike in active nematics, topological defects in flocking matter are merely transient excitations which annihilate rapidly and allow uniaxial order to extend over system-spanning scales (4).This idyllic view of the ordered phases of active liquids is limited, however, to pure systems. Disorder is known to profoundly alter the stability of topological defects and the corresponding ordered states in equilibrium condensed matter (16–18), but its role in active fluids remains virtually uncharted territory. All previous studies (19–26), including our own early experiments (22), have been limited to weak disorder and smooth perturbations around topologically trivial states. Unlike in equilibrium, no available experiment, simulation, or theory has ever demonstrated or predicted disorder-induced topological excitations in active matter.In this paper we show how isotropic disorder generically challenges the extreme robustness of flocking matter to topological defects. We map the full phase behavior of colloidal flocks navigating through disordered lattice of obstacles and reveal an unanticipated state of active matter: a dynamical vortex glass. In dynamical vortex glasses, millions of self-propelled particles can steadily cruise through disorder, maintaining local orientational order and without relaxing the topological singularities of their flows. The associated flow patterns are exponentially degenerated and shaped by amorphous ensembles of frozen topological defects, yielding a dynamical state akin to the static vortex-glass phase of dirty superconductors and random-gauge magnets (27–29). Building a theory of flock hydrodynamics beyond the spin-wave approximation, we elucidate the emergence and stabilization of topological vortices by quenched disorder. Finally, we discuss the universality of the dynamical vortex glass phase beyond the specifics of polar active matter and colloidal flocks.     

The Role of Rehabilitation in Patients With Progressive Supranuclear Palsy: A Narrative Review

Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder caused by the deposition of abnormal proteins in neurons of the basal ganglia that limit motor ability, resulting in disability and reduced quality of life. So far, no pharmacologic therapy has been developed, and the treatment remains symptomatic. The aim of the present study is to perform a systematic investigation of the literature, and to determine the types and effects of rehabilitative interventions used for PSP. A search of all studies was conducted in MEDLINE/PubMed, the Cochrane Central Register of Controlled Trials, CINAHL, and EMBASE. Twelve studies were identified, including 6 case reports, 3 case series, one case-control study, one quasi?randomized trial (i.e. not truly random) with crossover design, and one randomized controlled trial, with 88 patients investigated overall. Rehabilitative interventions varied in type, number, frequency, and duration of sessions. The most commonly used clinical measures were the Progressive Supranuclear Palsy Rating Scale (PSPRS) and Unified Parkinson's Disease Rating Scale (UPDRS). Physical exercises were the main rehabilitative strategy but were associated with other interventions and rehabilitative devices, in particular treadmill and robot-assisted gait training. All studies showed an improvement in balance and gait impairment with a reduction of falls after rehabilitation treatment. Because of poor methodological quality and the variety of rehabilitative approaches including different and variable strategies, there was insufficient evidence of the effectiveness of any specific rehabilitation intervention in PSP. Despite this finding, rehabilitation might improve balance and gait, thereby reducing falls in PSP patients.