Publications by authors named "Schutte B"

Article Synopsis
  • In Finland, isolated cleft palate (CP) occurs more frequently than cleft lip with or without cleft palate (CL/P), which is the opposite trend seen in other European countries.
  • A genome-wide association study revealed a specific single nucleotide polymorphism (rs570516915) strongly linked to CP in the Finnish population, showing significant statistical results and confirmed in other cohorts.
  • The risk allele for rs570516915 disrupts a binding site for the IRF6 transcription factor, leading to decreased IRF6 expression, indicating that this genetic alteration may be a key factor in the mechanism causing CP.
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Article Synopsis
  • In Finland, isolated cleft palate (CP) occurs more frequently than cleft lip with or without cleft palate (CL/P), which is the opposite trend seen in other European nations.
  • A genome-wide association study identified a specific SNP (rs570516915) that is strongly linked to CP in the Finnish and Estonian populations.
  • This SNP disrupts a binding site for the transcription factor IRF6, leading to decreased enhancer activity and impaired autoregulation, which may contribute to the increased risk of CP.
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The ability to perform attosecond-pump attosecond-probe spectroscopy (APAPS) is a longstanding goal in ultrafast science. While first pioneering experiments demonstrated the feasibility of APAPS, the low repetition rates (10 to 120 Hz) and the large footprints of existing setups have so far hindered the widespread exploitation of APAPS. Here, we demonstrate two-color APAPS using a commercial laser system at 1 kHz, straightforward post-compression in a hollow-core fiber, and a compact high-harmonic generation (HHG) setup.

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Background: A common cause of mild thrombocytopenia is chronic liver disease, the most common etiology being metabolic dysfunction-associated steatotic liver disease (MASLD). Mild thrombocytopenia is a well-defined, independent marker of hepatic fibrosis in patients with chronic liver disease. Currently, there is a paucity of information available to characterize perioperative risk in patients with MASLD; therefore, the characterization of perioperative morbidity is paramount.

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Background: The management of patients with chronic hepatitis B (CHB) is complex and spans multiple medical specialties. As a result of this complexity, patients with CHB often do not receive adequate monitoring including hepatocellular carcinoma (HCC) surveillance with abdominal ultrasonography. Previous studies have identified multiple factors associated with decreased HCC surveillance.

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Guar is a potential crop that can be grown as a forage or as a seed crop in arid to semi-arid regions due to its low water requirements and tolerance to heat. Optimizing irrigation water use is important for making alternative crops such as guar a sustainable option. Amendments such as biogenic silica, a sedimentary rock from a biogenic source such as fossils, may help plants tolerate water stress due to reduced irrigation.

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Background: Colorectal cancer is diagnosed in approximately 500,000 patients each year in Europe, leading to a high number of patients having to cope with the consequences of resection for colorectal cancer. As treatment options tend to grow, more information on the effects of these treatments is needed to engage in shared decision-making. This study aims to explore the impact of resection for colorectal cancer on patients' daily life.

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CoSAGE Community Advisory and Ethics Committee; Age-related hearing impairment yields many negative outcomes, including alterations in mental health, functional impairments, and decreased social engagement. The purpose of the current study was to examine perceived hearing impairment and its relationship with person-centered outcomes among adults in a rural community setting. A cross-sectional, descriptive correlational design was used.

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Endogenous bacterial endophthalmitis (EBE) is a rare but vision-threatening complication of bacteria spreading contiguously through the blood-ocular border. The condition is frequently associated with a poor visual prognosis and has even resulted in death. We present a case of a 48-year-old female with bilateral endogenous methicillin-resistant Staphylococcus aureus (MRSA)endophthalmitis further complicated by septic emboli, endocarditis, osteomyelitis, and septic polyarthralgia.

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Purpose: The main purpose of this study was to analyse the incidence of Common Peroneal Nerve Palsy (CPNP) after Total Knee Arthroplasty (TKA) for all alignments. Secondarily, the efficiency and safety of a Peroneal Nerve Release (PNR) prior to TKA in preoperative severe fixed valgus deformities were evaluated to prevent a CPNP.

Methods: Overall, 7612 TKAs were performed in the institution from 2009 to 2021.

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We present an optical parametric chirped pulse amplification (OPCPA) system delivering 4.4 TW pulses centered at 810 nm with a sub-9 fs duration and a carrier-envelope phase stability of 350 mrad. The OPCPA setup pumped by sub-10 ps pulses from two Yb:YAG thin-disk lasers at 100 Hz repetition rate is optimized for a high conversion-efficiency.

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Liquid water at ambient temperature displays ultrafast molecular motions and concomitant fluctuations of very strong electric fields originating from the dipolar HO molecules. We show that such random intermolecular fields induce the tunnel ionization of water molecules, which becomes irreversible if an external terahertz (THz) pulse imposes an additional directed electric field on the liquid. Time-resolved nonlinear THz spectroscopy maps charge separation, transport, and localization of the released electrons on a few-picosecond time scale.

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Objective: To investigate the gestational timing of morphologic events in normal canine secondary palate development as a baseline for studies in dog models of isolated cleft palate (CP).

Methods: Beagle and beagle/cocker spaniel-hybrid fetal dogs were obtained by cesarean-section on various days of gestation, timed from the initial rise of serum progesterone concentration. Morphology of fetal heads was determined by examining serial coronal sections.

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The THz-field-driven streak camera has proven to be a powerful diagnostic-technique that enables the shot-to-shot characterization of the duration and the arrival time jitter of free electron laser (FEL) pulses. Here we investigate the performance of three computational approaches capable to determine the duration of FEL pulses with complex temporal structures from single-shot measurements of up to three simultaneously recorded spectra. We use numerically simulated FEL pulses in order to validate the accuracy of the pulse length retrieval in average as well as in a single-shot mode.

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Scope: Abdominal obesity is one of the main modifiable risk factors of age-related cardiometabolic disease. Cardiometabolic disease risk and its associated high abdominal fat mass, cholesterol, and glucose concentrations can be reduced by a healthier lifestyle. Hence, the aim is to understand the relation between lifestyle-induced changes in body composition, and specifically abdominal fat, and accompanying changes in circulating metabolic biomarkers.

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SPECC1L mutations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P). These mutations cluster in the second coiled-coil and calponin homology domains of SPECC1L and severely affect the ability of SPECC1L to associate with microtubules. We previously showed that gene-trap knockout of Specc1l in mouse results in early embryonic lethality.

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Physiochemical differences between mitochondrial DNA (mtDNA) haplogroups that favor oxidative phosphorylation efficiency during periods of caloric limitation can lead to lifespan lengthening when food calories are less abundant. For example, prior work demonstrated that older female haplogroup H carriers had modestly lengthened lifespans beyond 60 years during the Great Depression, a time of caloric limitation in North America. The objective of the current study is to replicate the prior findings in an independent cohort that includes both sexes and younger ages.

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In 2010, sporadic cases of avian leukosis virus (ALV)-like bursal lymphoma, also known as spontaneous lymphoid leukosis (LL)-like tumors, were identified in two commercial broiler breeder flocks in the absence of exogenous ALV infection. Two individual ALV subgroup E (ALV-E) field strains, designated AF227 and AF229, were isolated from two different breeder farms. The role of these ALV-E field isolates in development of and the potential joint impact in conjunction with a Marek's disease virus (MDV) vaccine (SB-1) were further characterized in chickens of an experimental line and commercial broiler breeders.

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Mutations in IRF6, TFAP2A and GRHL3 cause orofacial clefting syndromes in humans. However, Tfap2a and Grhl3 are also required for neurulation in mice. Here, we found that homeostasis of Irf6 is also required for development of the neural tube and associated structures.

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Refraction is a well-known optical phenomenon that alters the direction of light waves propagating through matter. Microscopes, lenses and prisms based on refraction are indispensable tools for controlling light beams at visible, infrared, ultraviolet and X-ray wavelengths. In the past few decades, a range of extreme-ultraviolet and soft-X-ray sources has been developed in laboratory environments and at large-scale facilities.

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Clusters and nanoparticles have been widely investigated to determine how plasmonic near fields influence the strong-field induced energetic electron emission from finite systems. We focus on the contrary, i.e.

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Variants in IRF6 can lead to Van der Woude syndrome and popliteal pterygium syndrome. Furthermore, genes upstream and downstream of IRF6, including GRHL3 and TP63, are also associated with orofacial clefting. Additionally, a variant in an enhancer (MCS9.

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Background: Elevated concentrations of liver enzymes have been associated with an increased risk of developing type 2 diabetes mellitus. However, it remains unclear to which specific aspects of diurnal glucose metabolism these associate most. We aimed to investigate the associations between liver enzyme concentrations and 24 h-glucose trajectories in individuals without diabetes mellitus from three independent cohorts.

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Large-scale sequencing efforts have captured a rapidly growing catalogue of genetic variations. However, the accurate establishment of gene variant pathogenicity remains a central challenge in translating personal genomics information to clinical decisions. Interferon Regulatory Factor 6 (IRF6) gene variants are significant genetic contributors to orofacial clefts.

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