Lokalizacja taśmy u pacjentek z niepowodzeniem leczenia wysiłkowego nietrzymania moczu za pomocą slingu podcewkowego

Objectives: The high-pressure zone of the urethra (HPZ), which is crucial for the continence mechanism, extends between the point of the maximum urethral closure pressure and the urethral knee, and has been calculated to lie between 53% and 72% of the functional urethral length. According to recent studies the best results of suburethral slings are achieved when tapes are positioned under this zone. The aim of the study was to determine the location of tapes relative to the urethral length in patients seeking help due to recurrent stress urinary incontinence (SUI) following sling procedures. Material and methods: The study group comprised 61 patients suffering from recurrent SUI following suburethral slings performed from 6 months to 5 years earlier. Forty-nine (80.3%) women were initially treated with a transobturator sling and 12 (19.7%) with a retropubic procedure. Twenty patients had the original sling performed at our department whereas, the other 41 in other institutions. The position of the tapes was determined at the sagittal plane by 3-D transvaginal ultrasound using a linear transducer. The length of the urethra was measured from the bladder neck to the external urethral meatus following the urethral lumen, taking into account its curve. The position of the tapes relative to the percentage of the urethral length was calculated assuming the bladder neck as the proximal end of the urethra. The reference point was set at the midpoint on the tape. Results: Only 13 (21.3%) patients had tapes positioned at 50%-75% of the urethral length. In 45 (73.8%) of women examined the tapes were found under proximal half of the urethra and in 3 (4.9%) distally to the 75% of the urethral length. Conclusions: In most patients in whom slings procedures proved unsuccessful the tapes are located under theproximal half of the urethra, that is outside the HPZ. The position of a tape outside the HPZ may be considered as a cause of suburethral sling failure.Cel pracy: Badania ultrasonograficzne, oceniające położenie taśmy pod cewką moczową u pacjentek leczonych z powodu wysiłkowego nietrzymania moczu (WNM) za pomocą slingu podcewkowego wykazały, że najlepsze rezultaty obserwowane są w przypadku umiejscowienia taśmy pod odcinkiem cewki moczowej odpowiadającym strefie wysokiego ciśnienia (SWC). SWC rozciąga się pomiędzy punktem maksymalnego ciśnienia zamykającego cewkę moczową, a jej kolankiem i obejmuje odcinek pomiędzy 53% a 72% funkcjonalnej długości cewki moczowej. Celem pracy była ultrasonograficzna ocena położenia taśm podcewkowych u pacjentek z niepowodzeniami leczenia WNM. Materiały i metody: Badaniem objęto 61 pacjentek po nieskutecznym leczeniu WNM za pomocą slingow podcewkowych. Zabiegi były wykonane od 6 miesięcy do 5 lat przed momentem badania ultrasonograficznego. Z dostępu przez otwory zasłonione wykonano 49 zabiegow (80,3%), a 12 (19,7%) z dostępu załonowego. U 20 pacjentek wykonano zabiegi w II Klinice Ginekologii Uniwersytetu Medycznego w Lublinie, a 41 w innych ośrodkach. nPołożenie taśm oceniano za pomocą przezpochwowej ultrasonografii wykorzystując sondę liniową o częstotliwości 9-12 MHz. Po uzyskaniu trojwymiarowego obrazu mierzono długość cewki moczowej, w odniesieniu do której określano pozycję taśmy, przyjmując szyję pęcherza moczowego jako początek cewki. Wyniki: Jedynie u 13 (21,3%) pacjentek taśmy były umiejscowione pomiędzy 50 a 75% długości cewki moczowej. U 45 (73,8%) pacjentek, taśmę uwidoczniono pod proksymalną częścią cewki (poniżej 50% jej długości), a u 3 (4,9%) dystalnie do 75% długości cewki moczowej. Wnioski: U większości pacjentek z niepowodzeniem leczenia WNM za pomocą slingow podcewkowych taśmy zlokalizowane są pod proksymalnym odcinkiem cewki moczowej, a więc poza SWC cewki. Dlatego rozważając przyczyny niepowodzenia zabiegow slingowych u pacjentek z nawrotem nietrzymania moczu należy brać pod uwagę nieprawidłowe położenie taśmy

The rank of contextuality

Quantum contextuality is one of the most recognized resources in quantum communication and computing scenarios. We provide a new quantifier of this resource, the rank of contextuality (RC). We define RC as the minimum number of non-contextual behaviors that are needed to simulate a contextual behavior. We show that the logarithm of RC is a natural contextuality measure satisfying several properties considered in the spirit of the resource-theoretic approach. The properties include faithfulness, monotonicity, and additivity under tensor product. We also give examples of how to construct contextual behaviors with an arbitrary value of RC exhibiting a natural connection between this quantifier and the arboricity of an underlying hypergraph. We also discuss exemplary areas of research in which the new measure appears as a natural quantifier.Comment: 15 pages, 5 figure

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

Most new mutations are observed to arise in fathers, and increasing paternal age positively correlates with the risk of new variants. Interestingly, new mutations in X-linked recessive disease show elevated familial recurrence rates. In male offspring, these mutations must be inherited from mothers. We previously developed a simulation model to consider parental mosaicism as a source of transmitted mutations. In this paper, we extend and formalize the model to provide analytical results and flexible formulas. The results implicate parent of origin and parental mosaicism as central variables in recurrence risk. Consistent with empirical data, our model predicts that more transmitted mutations arise in fathers and that this tendency increases as fathers age. Notably, the lack of expansion later in the male germline determines relatively lower variance in the proportion of mutants, which decreases with paternal age. Subsequently, observation of a transmitted mutation has less impact on the expected risk for future offspring. Conversely, for the female germline, which arrests after clonal expansion in early development, variance in the mutant proportion is higher, and observation of a transmitted mutation dramatically increases the expected risk of recurrence in another pregnancy. Parental somatic mosaicism considerably elevates risk for both parents. These findings have important implications for genetic counseling and for understanding patterns of recurrence in transmission genetics. We provide a convenient online tool and source code implementing our analytical results. These tools permit varying the underlying parameters that influence recurrence risk and could be useful for analyzing risk in diverse family structures

Effects of Sitting Callisthenic Balance and Resistance Exercise Programs on Cognitive Function in Older Participants

Background: Exercise training programs have the potential to improve cognitive function in older subjects. However, the majority of training programs are based on aerobic modality. In the current study, the influence of 3 months programs of sitting callisthenic balance (SCB) and resistance training (RT) on cognitive functioning and the mediating role that a change in the level of neurotrophic factors and strength in older, healthy participants plays were examined. Material and methods: Global cognitive function was examined using MoCA, short-term memory using Digit Span and Delayed Matching to Sample, set shifting using Trial Making Test Part B, speed of processing simple visual stimuli using Simple Reaction Time, decision making using Choice Reaction Time, visual attention with Visual Attention Test (VAT), tests. Strength of lower and upper limbs, neurotrophin level (irisin, brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT-3), neurotrophin 4/5 (NT 4/5) were examined. Results: Improved scores in RT vs. SCB were noted in MoCA (p = 0.02), reaction time in SRT (p = 0.02), TMT B (p = 0.03), errors committed in CRT (p = 0.04) and VAT (p = 0.02) were observed. No significant changes in the level of neurotrophic factors were observed. Changes in upper limb strength were related to changes in the number of errors committed in the SRT (p = 0.03). Lower limb strength changes explained the dynamics of the number of correct answers (p = 0.002) and errors committed (p = 0.006) in VAT. Conclusions: Both SCB and RT influenced multiple cognitive domains. The RT program improved global cognitive functioning, while no improvement was noticed in the SCB group. Decision making, visual attention and global cognitive function were improved after the RT program. Set-shifting, short-term visual memory processing speed of simple visual stimuli were improved after the SCB program, while a decrease in the processing speed of simple visual stimuli was noted in the RT group. Changes in irisin were related to set-shifting and short-term memory, while in BDNF to an improvement in the processing speed of simple visual stimuli. Resistance exercise training programs could be applied to prevent age related declines of cognitive function in healthy older subjects

A fully capable pianist with a congenital bilateral agenesis of extensor pollicis brevis muscle

A 28-year-old male musical student has been presented with visible inability of active abduction and extension of the thumbs in both hands beyond the neutral position. The student has not been previously diagnosed and claimed no history of trauma or surgical procedures in the area of hands and no family history of such disabilities. The student remained capable of playing on keyboard instruments on high level due to compensation by hyperextension of the interphalangeal joint of both thumbs and showed no increased frequency of the injuries or playing-related disorders. The ultrasound and MRI imaging showed complete bilateral agenesis of Extensor Pollicis Brevis muscles and was classified as isolated Congenital Clasped Thumb Syndrome. Due to the age of the student and the agenesis of the muscles the conservative treatment was deemed inadequate and due to high functionality of the student as a musician and unforeseeable results it might have on a musician’s career, surgical treatment has been disadvised

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

BACKGROUND: Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Interestingly, ACDMPV-causative deletions, involving FOXF1 or its lung-specific upstream enhancer at 16q24.1, arise almost exclusively on the maternally inherited chromosome 16. Given the phenotypic similarities between upd(16)mat and ACDMPV, together with parental allelic bias in ACDMPV, we hypothesized that there may be unknown imprinted loci mapping to chromosome 16 that become functionally unmasked by chromosomal structural variants. RESULTS: To identify parent-of-origin biased DNA methylation, we performed high-resolution bisulfite sequencing of chromosome 16 on peripheral blood and cultured skin fibroblasts from individuals with maternal or paternal upd(16) as well as lung tissue from patients with ACDMPV-causative 16q24.1 deletions and a normal control. We identified 22 differentially methylated regions (DMRs) with ≥ 5 consecutive CpG methylation sites and varying tissue-specificity, including the known DMRs associated with the established imprinted gene ZNF597 and DMRs supporting maternal methylation of PRR25, thought to be paternally expressed in lymphoblastoid cells. Lastly, we found evidence of paternal methylation on 16q24.1 near LINC01082 mapping to the FOXF1 enhancer. CONCLUSIONS: Using high-resolution bisulfite sequencing to evaluate DNA methylation across chromosome 16, we found evidence for novel candidate imprinted loci on chromosome 16 that would not be evident in array-based assays and could contribute to the birth defects observed in patients with upd(16)mat or in ACDMPV

SOLARIS National Synchrotron Radiation Centre in Krakow, Poland

The SOLARIS synchrotron located in Krakow, Poland, is a third-generation light source operating at medium electron energy. The first synchrotron light was observed in 2015, and the consequent development of infrastructure lead to the first users’ experiments at soft X-ray energies in 2018. Presently, SOLARIS expands its operation towards hard X-rays with continuous developments of the beamlines and concurrent infrastructure. In the following, we will summarize the SOLARIS synchrotron design, and describe the beamlines and research infrastructure together with the main performance parameters, upgrade, and development plans

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder of the lung with defining histologic abnormalities typically associated with multiple congenital anomalies (MCA). Using array CGH analysis, we have identified six overlapping microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.2 in patients with ACD/MPV and MCA. Subsequently, we have identified four different heterozygous mutations (frameshift, nonsense, and no-stop) in the candidate FOXF1 gene in unrelated patients with sporadic ACD/MPV and MCA. Custom-designed, high-resolution microarray analysis of additional ACD/MPV samples revealed one microdeletion harboring FOXF1 and two distinct microdeletions upstream of FOXF1, implicating a position effect. DNA sequence analysis revealed that in six of nine deletions, both breakpoints occurred in the portions of Alu elements showing eight to 43 base pairs of perfect microhomology, suggesting replication error Microhomology-Mediated Break-Induced Replication (MMBIR)/Fork Stalling and Template Switching (FoSTeS) as a mechanism of their formation. In contrast to the association of point mutations in FOXF1 with bowel malrotation, microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes. These differences reveal the phenotypic consequences of gene alterations in cis