Objective: To test clinical observations that the penilo-cavernosus reflex is much more difficult to elicit in circumcised men. Patients and methods: Men consecutively referred for uro-neurological or uro-neurophysiological examination were prospectively included. * Those with possible sacral neuropathic lesions were excluded. A history was obtained, and a clinical neurological examination was performed. The penilo-cavernosus reflex was tested clinically and neurophysiologically using electrical and mechanical stimulation. * Reflex elicitability scores in groups of circumcised men, men with foreskin retraction and a control group of uncircumcised men were compared using the Mann-Whitney U test. Results: The reflex was clinically non-elicitable in 73%, 64% and 8% of 30 circumcised men, 15 men with foreskin retraction, and 29 control men, respectively. * The scored reflex elicitability was significantly (P ( 0.001) higher in control men than in the other two groups clinically, but not neurophysiologically. Conclusions: The study confirmed the lower clinical and similar neurophysiological elicitability of the penilo-cavernosus reflex in circumcised men and in men with foreskin retraction. This finding needs to be taken into account by urologists and other clinicians in daily clinical practice.
COBISS.SI-ID: 29503449
Aims: Urinary incontinence (UI) is a predictor of greater mortality and poor functional recovery; however published studies failed to evaluate lower urinary tract (LUT) function immediately after stroke. The aim of our study was to evaluate the course of LUT function in the first week after stroke, andits impact on prognosis. Methods: We included 100 consecutively admitted patients suffering first-ever stroke and evaluated them within 72 hours after stroke, after 7 days, 6 months, and 12 months. For LUT function assessment we used ultrasound measurement. The patients were divided into three groups: (i) patients who remained continent after stroke, (ii) patients who had LUT dysfunction in the acute phase but regained continence in the first week, and (iii) patients who did not regain normal LUT control in the first week. We assessed the influence of variables on death using the multiple logistic regression model. Results: Immediately after stroke 58 patients had LUT dysfunction. The odds of dying in group with LUT dysfunction were significantly larger than odds in group without LUT dysfunction. Odds for death for patients who regained LUT function in 1 week after stroke were comparable to patients without LUT dysfunction. Conclusions: We confirmed thatpost-stroke UI is a predictor of greater mortality at 1 week, 6 months and12 months after stroke. However, patients who regain normal bladder controlin the first week have a comparable prognosis as the patients who do not have micturition disturbances following stroke.
COBISS.SI-ID: 29598169
This study estimated the whole-scalp topography and possible generators of thecortical potential associated with volitional self-paced inspirations (sniffs). In 17 healthy subjects we recorded a 32-channel electroencephalogram(EEG) during sniffing, for comparison during finger flexions. We averaged the EEG with respect to movement onset, and performed current source density and principal component analysis on the grand averaged data. We identified an early negative sniffing-related cortical potential starting Ž1.5s before movement at the vertex, which, in its time-course and dipole orientation, closely resembled Bereitshaftspotential preceding finger flexions. Around the movement onset, its topography became unique with three negative current sources: one at the vertex, and two bilaterally over the fronto-temporal derivations. We conclude that sequential cortical activation in preparation for sniffing is similar to other volitional movements. The current sources at sniff onset at the vertex likely reflect somatotopic motor representation of the diaphragm, neck and intercostal muscles, whereas currentsources over fronto-temporal derivations likely reflect the somatotopicrepresentation of the orofacial muscles.
COBISS.SI-ID: 9459284
Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. Unrecognized, these can result in delayed wound healing and osteomyelitis, necessitating distal amputations. To elucidate the genetic basis of an HSN I subtype in a family in which mutations in the few known HSN I genes had been excluded, we employed massive parallel exon sequencing of the 14.3 Mb disease interval on chromosome14q. We detected a missense mutation (c.1065C)A, p.Asn355Lys) in atlastin-1 (ATL1), a gene that is known to be mutated in early-onset hereditary spastic paraplegia SPG3A and that encodes the large dynamin-relatedGTPase atlastin-1. The mutant protein exhibited reduced GTPase activity and prominently disrupted ER network morphology when expressed in COS7 cells, strongly supporting pathogenicity. An expanded screen in 115 additional HSN I patients identified two further dominant ATL1 mutations (c.196G)C [p.Glu66Gln] and c.976 delG [p.Val326TrpfsX8]). This study highlights an unexpected major role for atlastin-1 in the function of sensory neurons and identifies HSN I and SPG3A as allelic disorders.
COBISS.SI-ID: 27949785
Background: Research on brain activity in schizophrenia has shown that changes in the function of any single region cannot explain the range of cognitive and affective impairments in this illness. Rather, neural circuits that support sensory, cognitive, and emotional processes are now being investigated as substrates for cognitive and affective impairments in schizophrenia, a shift in focus consistent with long-standing hypotheses about schizophrenia as a disconnection syndrome. Our goal was to further examine alterations in functional connectivity within and between the default mode network and three cognitive control networks (frontal-parietal, cingulo- opercular, and cerebellar) as a basis for such impairments. Methods: Resting state functional magnetic resonance imaging was collected from 40 individuals with DSM-IV-TR schizophrenia, 31 siblings of individuals with schizophrenia, 15 healthy control subjects, and 18 siblings of healthy control subjects while they rested quietly with their eyes closed. Connectivity metrics were compared between patients and control subjects for both within- and between-network connections and were used to predict clinical symptoms and cognitive function. Results: Individuals with schizophrenia showed reduced distal and somewhat enhanced local connectivity between the cognitive control networks compared with control subjects. Additionally, greater connectivity between the frontal-parietal and cerebellar regions was robustly predictive of better cognitive performance across groups and predictive of fewer disorganization symptoms among patients. Conclusions: These results are consistent with the hypothesis that impairments of executive function and cognitive control result from disruption in the coordination of activity across brain networks and additionally suggest that these might reflect impairments in normal pattern of brain connectivity development.
COBISS.SI-ID: 46639202