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
Volume-based registration (VBR) is the predominant method used in human neuroimaging to compensate for individual variability. However, surface-based registration (SBR) techniques have an inherent advantage over VBR because they respect the topology of the convoluted cortical sheet. There is evidence that existing SBR methods indeed confer a registration advantage over affine VBR. Landmark-SBR constrains registration using explicit landmarks to represent corresponding geographical locations on individual and atlas surfaces. The need for manual landmark identification has been an impediment to the widespread adoption of Landmark- SBR. To circumvent this obstacle, we have implemented and evaluated an automated landmark identification (ALI) algorithm for registration to the human PALS-B12 atlas. We compared ALI performance with that from two trained human raters and one expert anatomical rater (ENR). We employed both quantitative and qualitative quality assurance metrics, including a biologically meaningful analysis of hemispheric asymmetry. ALI performed well across all quality assurance tests, indicating that it yields robust and largely accurate results that require only modest manual correction (b10 min per subject). ALI largely circumvents human error and bias and enables high throughput analysis of large neuroimaging datasets for inter-subject registration to an atlas.
COBISS.SI-ID: 47041890
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