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Träfflista för sökning "WFRF:(Lacher Martin) "

Sökning: WFRF:(Lacher Martin)

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1.
  • Rieke, Johanna Magdalena, et al. (författare)
  • SLC20A1Is Involved in Urinary Tract and Urorectal Development
  • 2020
  • Ingår i: Frontiers in Cell and Developmental Biology. - : FRONTIERS MEDIA SA. - 2296-634X. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • Previous studies in developingXenopusand zebrafish reported that the phosphate transporterslc20a1ais expressed in pronephric kidneys. The recent identification ofSLC20A1as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role ofSLC20A1in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish orthologslc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detectedSLC20A1in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequencedSLC20A1in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelicde novovariants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novelde novovariant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact ofSLC20A1variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggestSLC20A1is involved in urinary tract and urorectal development and implicateSLC20A1as a disease-gene for BEEC.
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2.
  • Amerstorfer, Eva Elisa, et al. (författare)
  • What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members’ opinion
  • 2019
  • Ingår i: Pediatric Surgery International. - : Springer Science and Business Media LLC. - 0179-0358 .- 1437-9813. ; 35:9, s. 935-943
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Since pediatric surgeons aim to follow their patients with anorectal malformations (ARM) into adulthood the aim of this study was to investigate how pediatric surgeons deal with sexual issues related to ARM. Methods: In 2018, a questionnaire was developed by the working group “Follow-up and sexuality” of the ARM-Net consortium and sent to all consortium-linked pediatric surgeons from 31 European pediatric surgical centers. Obtained data were statistically analyzed. Results: Twenty-eight of 37 pediatric surgeons (18 males/10 females) answered the questionnaire. The majority of pediatric surgeons (82%) think they should talk about sexual issues with their patient. More than 50% of pediatric surgeons do not feel at all or only moderately confident discussing the topic of sexuality. Most pediatric surgeons require more support (96%) and wish to be trained in sexuality and sexual issues (78%) to feel confident towards their ARM-patients/parents. For optimal care, sexual issues with ARM-patients should be managed by a multidisciplinary team. Conclusions: Pediatric surgeons feel that sexuality is an important issue for their ARM-patients, which they are primarily responsible of but should be managed in concert with a multidisciplinary team. A training in sexuality is wished to feel more confident about this specific issue.
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3.
  • Fanjul, María, et al. (författare)
  • Tethered cord in patients affected by anorectal malformations : a survey from the ARM-Net Consortium
  • 2017
  • Ingår i: Pediatric Surgery International. - : Springer Science and Business Media LLC. - 0179-0358 .- 1437-9813. ; 33:8, s. 849-854
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. Methods: A survey was sent to pediatric surgeons (one per center) members of the ARM-Net Consortium. Results: Twenty-four (86%) from ten different countries completed the survey. Overall prevalence of TC was: 21% unknown, 46% below 15, and 29% between 15 and 30%. Ninety-six agreed on screening all patients for TC regardless the type of ARM and 79% start screening at birth. Responses varied in TC definition and diagnostic tools. Fifty percent of respondents prefer ultrasound (US), 21% indicate either US or magnetic resonance (MRI) based on a pre-defined risk of presenting TC, and 21% perform both. Discrepancy exists in complementary test: 82% carry out urodynamic studies (UDS) and only 37% perform somatosensory-evoked potentials (SSEP). Prophylactic untethering is performed in only two centers (8%). Conclusions: Survey results support TC screening in all patients with ARM and conservative management of TC. There is discrepancy in the definition of TC, screening tools, and complementary test. Protocols should be developed to avoid such variability in management.
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4.
  • Hageman, Isabel C., et al. (författare)
  • A Quality Assessment of the ARM-Net Registry Design and Data Collection
  • 2023
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468. ; 58:10, s. 1921-1928
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience. Material and methods: Design and data elements were assessed for completeness, consistency, usefulness, accuracy, validity, and comparability. An intra- and inter-user variability study was conducted through monitoring and re-registration of patients. User experience was assessed via a questionnaire on registration, design of registry, and satisfaction. Results: We evaluated 119 data elements, of which 107 were utilized and comprised 42 string and 65 numeric elements. A minority (37.0%) of the 2278 included records had complete data, though this improved to 83.5% when follow-up elements were excluded. Intra-observer variability demonstrated 11.7% incongruence, while inter-observer variability was 14.7%. Users were predominantly pediatric surgeons and typically registered patients within 11–30 min. Users did not experience any significant difficulties with data entry and were generally satisfied with the registry, but preferred more longitudinal data and patient-reported outcomes. Conclusions: The ARM-Net registry presents one of the largest ARM cohorts. Although its collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are required to maintain relevant and high-quality data and to achieve long-term sustainability. With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. Level of Evidence: V.
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5.
  • Lacher, Larissa, et al. (författare)
  • The Puy de Dôme ICe Nucleation Intercomparison Campaign (PICNIC): comparison between online and offline methods in ambient air
  • 2024
  • Ingår i: ATMOSPHERIC CHEMISTRY AND PHYSICS. - 1680-7316 .- 1680-7324. ; 24:4, s. 2651-2678
  • Tidskriftsartikel (refereegranskat)abstract
    • Ice crystal formation in mixed-phase clouds is initiated by specific aerosol particles, termed ice-nucleating particles (INPs). Only a tiny fraction of all aerosol particles are INPs, providing a challenge for contemporary INP measurement techniques. Models have shown that the presence of INPs in clouds can impact their radiative properties and induce precipitation formation. However, for a qualified implementation of INPs in models, measurement techniques able to accurately detect the temperature-dependent INP concentration are needed. Here we present measurements of INP concentrations in ambient air under conditions relevant to mixed-phase clouds from a total of 10 INP methods over 2 weeks in October 2018 at the Puy de Dome observatory in central France. A special focus in this intercomparison campaign was placed on having overlapping sampling periods. Although a variety of different measurement principles were used, the majority of the data show INP concentrations within a factor of 5 of one another, demonstrating the suitability of the instruments to derive model-relevant INP data.Lower values of comparability are likely due to instrument-specific features such as aerosol lamina spreading in continuous-flow diffusion chambers, demonstrating the need to account for such phenomena when interpreting INP concentration data from online instruments. Moreover, consistently higher INP concentrations were observed from aerosol filters collected on the rooftop at the Puy de Dome station without the use of an aerosol inlet.
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