Publications by authors named "Kahler S"

Among various techniques designed for studying open-shell species, electron paramagnetic resonance (EPR) spectroscopy plays an important role. The key quantity measured by EPR is the -tensor, describing the coupling between an external magnetic field and molecular electronic spin. One theoretical framework for quantum chemistry calculations of -tensors is based on response theory, which involves substantial developments that are specific to the underlying electronic structure models.

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Testosterone and dihydrotestosterone are significant drivers of male external genital development, and therefore teratogens that alter these hormone profiles have been hypothesized to cause aberrations in development. Here, we present the first case report of genitalia anomalies after prenatal exposure to spironolactone and dutasteride through 8-weeks of gestation. The patient was born with abnormal male external genitalia which was surgically managed.

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We report on photolipid doping of giant unilamellar vesicles (GUVs) vesicle fusion with small unilamellar photolipid vesicles (pSUVs), which enables retroactive optical control of the membrane properties. We observe that vesicle fusion is light-dependent, if the phospholipids are neutral. Charge-mediated fusion involving anionic and cationic lipid molecules augments the overall fusion performance and doping efficiency, even in the absence of light exposure.

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While recent technological developments contributed to breakthrough advances in single particle cryo-electron microscopy (cryo-EM), sample preparation remains a significant bottleneck for the structure determination of macromolecular complexes. A critical time factor is sample optimization that requires the use of an electron microscope to screen grids prepared under different conditions to achieve the ideal vitreous ice thickness containing the particles. Evaluating sample quality requires access to cryo-electron microscopes and a strong expertise in EM.

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Real-world data (RWD) collected in routine health care processes and transformed to real-world evidence have become increasingly interesting within the research and medical communities to enhance medical research and support regulatory decision-making. Despite numerous European initiatives, there is still no cross-border consensus or guideline determining which qualities RWD must meet in order to be acceptable for decision-making within regulatory or routine clinical decision support. In the absence of guidelines defining the quality standards for RWD, an overview and first recommendations for quality criteria for RWD in pharmaceutical research and health care decision-making is needed in Austria.

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Low-energy spectra of single-molecule magnets (SMMs) are often described by Heisenberg Hamiltonians. Within this formalism, exchange interactions between magnetic centers determine the ground-state multiplicity and energy separation between the ground and excited states. In this contribution, we extract exchange coupling constants (J) for a set of iron (III) binuclear and tetranuclear complexes from all-electron calculations using non-collinear spin-flip time-dependent density functional theory (NC-SF-TDDFT).

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Background: Dermatologic disease is a neglected public health challenge that disproportionately affects resource-poor settings. Globally, dermatologic disease contributes the fourth highest burden of nonfatal disability with the most acute impact in the Oceanic region, including the Republic of Palau. Efforts to address the dermatologic health inequality are hindered without the necessary epidemiologic evidence to guide health policy in the resource-poor setting of Palau.

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This article summarizes technical advances contained in the fifth major release of the Q-Chem quantum chemistry program package, covering developments since 2015. A comprehensive library of exchange-correlation functionals, along with a suite of correlated many-body methods, continues to be a hallmark of the Q-Chem software. The many-body methods include novel variants of both coupled-cluster and configuration-interaction approaches along with methods based on the algebraic diagrammatic construction and variational reduced density-matrix methods.

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Globally, lung cancer is the leading cause of cancer-related death. The majority of non-small cell lung cancer (NSCLC) tumours express epidermal growth factor receptor (EGFR), which allows for precise and targeted therapy in these patients. The dysregulation of EGFR in solid epithelial cancers has two distinct mechanisms: either a kinase-activating mutation in EGFR (EGFR-mutant) and/or an overexpression of wild-type EGFR (wt-EGFR).

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Article Synopsis
  • Endothelial to mesenchymal transition (EndMT) is linked to fibrosis and disease, but its exact mechanisms remain unclear, with focus on vessel-resident endovascular progenitors (EVP).
  • The transcription factors SOX9 and RBPJ play significant roles in regulating the numbers and fate of EVPs, where knocking out Sox9 reduces EVP numbers and minimizes pathological EndMT in wound healing.
  • Manipulating Sox9 and Rbpj levels affects gene expression related to EndMT, suggesting that targeting these pathways could lead to new therapies for fibrotic conditions.
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Autism spectrum disorder (ASD) is a behaviorally defined disorder that is now thought to affect approximately 1 in 69 children in the United States. In most cases, the etiology is unknown, but several studies point to the interaction of genetic predisposition with environmental factors. The immune system is thought to have a causative role in ASD, and specific studies have implicated T lymphocytes, monocytes, natural killer (NK) cells, and certain cytokines.

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Purpose: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), β (PHKB), ɣ (PHKG1, PHKG2), and δ (CALM1, CALM2, CALM3).

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Revascularization-associated intracanal calcification (RAIC) is a common finding in immature teeth managed with regenerative endodontic treatment (RET). The aim of this report was to illustrate a case in which 2 mandibular premolar teeth developed complete canal obliteration and have been reviewed for 8 years. The 3 primary outcome goals as defined by the American Association of Endodontists after RET are resolution of signs and symptoms of pulp necrosis, further root maturation, and achievement of responses to pulp vitality testing.

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The use of non-orthogonal orbitals allows the construction and use of more compact wave functions than offered by standard methods using orthogonal molecular orbitals; in particular, for molecules containing partly occupied atomic orbitals as present, for example, in transition metal complexes. With the purpose of developing efficient dynamic correlation methods, we discuss several new internal correlation methods employing a reference state containing non-orthogonal active orbitals. The non-orthogonal internally contracted perturbation theory approach is improved in several directions.

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Objective: To study the variable clinical picture and exercise tolerance of patients with phosphoglycerate kinase (PGK) 1 deficiency and how it relates to residual PGK enzyme activity.

Methods: In this case series study, we evaluated 7 boys and men from 5 families with PGK1 deficiency. Five had pure muscle symptoms, while 2 also had mild intellectual disability with or without anemia.

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Article Synopsis
  • A recent study explored the potential benefits of intravenous immunoglobulin (IVIG) treatment for children with autism spectrum disorder (ASD), suggesting that some may have autoimmune encephalopathy (AIE).
  • Out of 82 children screened for AIE, 60% were recommended IVIG, and 38% received it, with 90% of parents reporting improved symptoms and significant statistical improvements noted on behavior assessments.
  • While adverse effects occurred in 62% of patients, they were mostly mild and only two patients stopped treatment; the findings highlight a possible neuroimmune subgroup in ASD warranting further research.
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Transposable elements modify human genome by inserting into new loci or by mediating homology-, microhomology-, or homeology-driven DNA recombination or repair, resulting in genomic structural variation. Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal neonatal developmental lung disorder caused by point mutations or copy-number variant (CNV) deletions of FOXF1 or its distant tissue-specific enhancer. Eighty-five percent of 45 ACDMPV-causative CNV deletions, of which junctions have been sequenced, had at least one of their two breakpoints located in a retrotransposon, with more than half of them being Alu elements.

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Autism spectrum disorder (ASD) affects ~ 2% of children in the United States. The etiology of ASD likely involves environmental factors triggering physiological abnormalities in genetically sensitive individuals. One of these major physiological abnormalities is mitochondrial dysfunction, which may affect a significant subset of children with ASD.

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Background: Neurotoxicity of anaesthetics in developing brain cells is well documented in preclinical studies, yet results are conflicting in humans. The use of many and different outcome measures in human studies may contribute to this disagreement.

Methods: We conducted a systematic review to identify all measures used to assess long-term neurocognitive outcomes following general anaesthesia (GA) and surgery in children.

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