Publications by authors named "Spiller M"

Article Synopsis
  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
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Background: Validated and internationally standardised measurement instruments are a prerequisite for ensuring that physical activity during pregnancy is comparable and for deriving physical activity recommendations. In Germany, there has been no adapted version of the internationally used Pregnancy Physical Activity Questionnaire (PPAQ) until now. This study's aim centred around translating the original English version into German (PPAQ-G) and determining its reliability as well as validity in a German population.

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  • Laparoscopic access is a crucial but difficult part of surgery, often leading to complications, with current tools offering limited safety at higher prices.
  • A new prototype using vibroacoustic signals was tested on pig cadavers, successfully detecting 100% of abdominal cavity entries during 193 insertions.
  • This technology improves situational awareness for surgeons, can identify all phases of needle insertion, and doesn't need specialized sensors in the instrument tip, making it compatible with various medical tools.
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In recirculating aquaculture systems (RAS), waste management of nutrient-rich byproducts accounts for 30-50% of the whole production costs. Integrating microalgae into RAS offers complementary solutions for transforming waste streams into valuable co-products. This review aims to provide an overview of recent advances in microalgae application to enhance RAS performance and derive value from all waste streams by using RAS effluents as microalgal nutrient sources.

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Article Synopsis
  • - A new water-soluble iridium(I) catalyst was created, which features phosphine and longer polyethylene glycol (PEG) side chains for better solubility in water, regardless of pH levels.
  • - The catalyst was tested for hydrogen isotope exchange (HIE) reactions using polar substances in protic solvents, with DFT calculations helping to explain the catalytic mechanisms.
  • - The performance of the pegylated catalyst was evaluated using various complex compounds in a specific borax buffer at pH 9, and the optimized conditions were successfully applied in an experiment involving the drug telmisartan.
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In regions with intensive livestock production, managing the environmental impact of manure is a critical challenge. This study, set in Flanders (Belgium), evaluates the effectiveness of integrating process intensification measures into the treatment of piggery manure to mitigate nitrogen (N) surplus issues. The research investigates the techno-economic benefits of implementing three key interventions: pure oxygen (PO) aeration, ammonia (NH) stripping-scrubbing (SS) pretreatment, and tertiary treatment using constructed wetlands (CW), within the conventional nitrification-denitrification (NDN) process.

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Heterogeneous nuclear ribonucleoprotein C (HNRNPC) is an essential, ubiquitously abundant protein involved in mRNA processing. Genetic variants in other members of the HNRNP family have been associated with neurodevelopmental disorders. Here, we describe 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants.

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Background: The shift towards minimally invasive surgery is associated with a significant reduction of tactile information available to the surgeon, with compensation strategies ranging from vision-based techniques to the integration of sensing concepts into surgical instruments. Tactile information is vital for palpation tasks such as the differentiation of tissues or the characterisation of surfaces. This work investigates a new sensing approach to derive palpation-related information from vibration signals originating from instrument-tissue-interactions.

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The direct tactile assessment of surface textures during palpation is an essential component of open surgery that is impeded in minimally invasive and robot-assisted surgery. When indirectly palpating with a surgical instrument, the structural vibrations from this interaction contain tactile information that can be extracted and analysed. This study investigates the influence of the parameters contact angle α and velocity v→ on the vibro-acoustic signals from this indirect palpation.

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To provide for the globally increasing demand for proteinaceous food, microbial protein (MP) has the potential to become an alternative food or feed source. Phosphorus (P), on the other hand, is a critical raw material whose global reserves are declining. Growing MP on recovered phosphorus, for instance, struvite obtained from wastewater treatment, is a promising MP production route that could supply protein-rich products while handling P scarcity.

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Individuals with biallelic TBCK pathogenic variants present in infancy with distinctive facial features, profound hypotonia, severe intellectual impairment and epilepsy. Although rare, it may mimic other neurogenetic disorders leading to extensive investigations. Improved understanding of the clinical phenotype can support early monitoring of complications due to respiratory insufficiency.

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Importance: The association of 13-valent pneumococcal conjugate vaccine (PCV13) use with pneumonia hospitalization in older adults, especially those with underlying medical conditions, is not well described.

Objective: To evaluate the association of PCV13 use with pneumonia, non-health care-associated (non-HA) pneumonia, and lobar pneumonia (LP) hospitalization among US Medicare beneficiaries 65 years or older.

Design, Setting, And Participants: This cohort study with time-varying exposure assignment analyzed claims data from US Medicare beneficiaries 65 years or older enrolled in Parts A/B with a residence in the 50 US states or the District of Columbia by September 1, 2014.

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TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existing literature describes congenital heart disease as a common recognized phenotype of TAB2 gene variants, with evidence of a distinct syndromic phenotype also existing beyond this.

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Creating surgical access is a critical step in laparoscopic surgery. Surgeons have to insert a sharp instrument such as the Veress needle or a trocar into the patient's abdomen until the peritoneal cavity is reached. They solely rely on their experience and distorted tactile feedback in that process, leading to a complication rate as high as 14% of all cases.

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Genomic prediction has been established in breeding programs to predict the genotypic values of selection candidates without phenotypic data. First results in wheat showed that genomic predictions can also prove useful to select among material for which phenotypic data are available. In such a scenario, the selection candidates are evaluated with low intensity in the field.

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Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial regulator (BMPER). There is a continuum of clinical presentation, with DSD at the severe end of the spectrum whilst ISD is towards the milder end. Both are caused due to pathogenic variants in BMPER.

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Pathogenic variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants. All patients were found to harbor de novo loss-of-function variants except for one individual where the inheritance could not be determined, as a parent was unavailable for testing.

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Due to the high water- and nutrient-use efficiency, hydroponic cultivation is increasingly vital in progressing to environment-friendly food production. To further alleviate the environmental impacts of synthetic fertilizer production, the use of recovered nutrients should be encouraged in horticulture and agriculture at large. Solid organic fertilizers can largely contribute to this, yet their physical and chemical nature impedes application in hydroponics.

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We describe clinical details, including novel findings, of two further children with the newly defined TLK2-related disorder. One patient was recruited to the Deciphering Developmental Delay (DDD) Study to identify underlying etiology of global developmental delay. The other was detected on whole-exome sequencing as part of second line investigations following normal microarray.

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Background: The global prevalence of diabetes is nearly 9%, with an upward trend in type 2 diabetes mellitus (T2DM) and gestational diabetes (GDM). Although evidence shows that vulnerable groups are affected disproportionally, these groups are difficult to reach in terms of preventive measures. Currently, there is no gold standard regarding communication strategies and/or public awareness campaigns.

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Background: Biometric sensing is a security method for protecting information and property. State-of-the-art biometric traits are behavioral and physiological in nature. However, they are vulnerable to tampering and forgery.

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Resource recovery and reuse from domestic wastewater has become an important subject for the current development of sanitation technologies and infrastructures. Different technologies are available and combined into sanitation concepts, with different performances. This study provides a methodological approach to evaluate the sustainability of these sanitation concepts with focus on resource recovery and reuse.

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Objective: To determine the difference in rate of weight gain from birth to 5 years based on exposure to maternal group B streptococcal (GBS) intrapartum antibiotic prophylaxis (IAP).

Design: Retrospective cohort study of 13 804 infants.

Setting: Two perinatal centres and a primary paediatric care network in Philadelphia.

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Background: Intrapartum antibiotic prophylaxis (IAP) reduces a newborn's risk of group B streptococcal infection (GBS) but may lead to an increased childhood body mass index (BMI).

Methods: This was a retrospective cohort study of infants (n = 223 431) born 2007-2015 in an integrated healthcare system. For vaginal delivery, we compared children exposed to GBS-IAP and to any other type or duration of intrapartum antibiotics to no antibiotic exposure.

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Production of struvite (MgNHPO·6HO) from waste streams is increasingly implemented to recover phosphorus (P), which is listed as a critical raw material in the European Union (EU). To facilitate EU-wide trade of P-containing secondary raw materials such as struvite, the EU issued a revised fertilizer regulation in 2019. A comprehensive overview of the supply of struvite and its quality is presently missing.

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