Publications by authors named "Hofer N"

Germline de novo missense variants of the CACNA1D gene, encoding the pore-forming α1 subunit of Cav1.3 L-type Ca2+ channels (LTCCs), have been found in patients with neurodevelopmental and endocrine dysfunction, but their disease-causing potential is unproven. These variants alter channel gating, enabling enhanced Cav1.

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Background: Primary hypoadrenocorticism (PH) is rare in cats and knowledge about treatment is sparse.

Objective: To describe cats with PH with a focus on long-term treatment.

Animals: Eleven cats with naturally occurring PH.

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In dopaminergic (DA) (SN) neurons Cav2.3 R-type Ca-currents contribute to somatodendritic Ca-oscillations. This activity may contribute to the selective degeneration of these neurons in Parkinson's disease (PD) since Cav2.

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-->Low voltage-activated Cav1.3 L-type Ca-channels are key regulators of neuronal excitability controlling neuronal development and different types of learning and memory. Their physiological functions are enabled by their negative activation voltage-range, which allows Cav1.

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Background: There is increasing evidence that de novo missense mutations inducing increased Cav1.3 L-type Ca-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely disease-causing from non-pathogenic de novo variants in affected individuals.

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Cav1.3 L-type Ca channels (LTCCs) in cochlear inner hair cells (IHCs) are essential for hearing as they convert sound-induced graded receptor potentials into tonic postsynaptic glutamate release. To enable fast and indefatigable presynaptic Ca signaling, IHC Cav1.

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Key Points: Tymothy syndrome (TS) is a multisystem disorder featuring cardiac arrhythmias, autism and adrenal gland dysfunction that originates from a de novo point mutation in the gene encoding the Cav1.2 (CACNA1C) L-type channel. To study the role of Cav1.

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The kinetics of caspofungin (CAS) in cerebrospinal fluid (CSF) following intravenous (i.v.) administration has been studied exclusively in animal models.

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Particular groups of plant-beneficial fluorescent pseudomonads are not only root colonizers that provide plant disease suppression, but in addition are able to infect and kill insect larvae. The mechanisms by which the bacteria manage to infest this alternative host, to overcome its immune system, and to ultimately kill the insect are still largely unknown. However, the investigation of the few virulence factors discovered so far, points to a highly multifactorial nature of insecticidal activity.

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Improvement of psychosomatic rehabilitation efforts with prestationary intervention. The study is designed as a prospective and randomisized interventon study including 317 in patients. Most of the patients were women (69.

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Serum bile acids (BA) reference values are lacking for neonates. Therefore, this study aimed to determine serum BA reference values in term and preterm neonates. Furthermore, as serum BA concentrations are well-known to rise in septic adults, BA values were determined in early-onset neonatal sepsis (EOS), a common and serious disease in neonates.

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Objectives: To identify laboratory and clinical characteristics of different pathogens associated with early-onset sepsis (EOS) of the newborn.

Methods: Newborns with EOS were retrospectively analyzed regarding laboratory and clinical parameters associated with the identified pathogen.

Results: We identified 125 newborns having diagnosis of culture proven EOS between 1993 and 2011.

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Across species, cued fear conditioning is a common experimental paradigm to investigate aversive Pavlovian learning. While fear-conditioned stimuli (CS+) elicit overt behavior in many mammals, this is not the case in humans. Typically, autonomic nervous system activity is used to quantify fear memory in humans, measured by skin conductance responses (SCR).

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Background: Population-based data on pediatric patients on long-term respiratory support (LTRS) in Austria are lacking. This study aimed to record the pediatric departments active in this field, as well as number and characteristics of patients on LTRS.

Methods: A national cross-sectional study was carried out by means of questionnaires sent to all pediatric departments in Austria.

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Introduction: Meconium aspiration syndrome (MAS) is linked to inflammation, but data on the patterns of hematological indices and C-reactive protein (CRP) in MAS are lacking. The aim of the study was to evaluate CRP, white blood cell count (WBC), absolute neutrophil count (ANC), and immature-to-total neutrophil ratio (IT-ratio) in MAS and to assess their association with disease severity.

Methods: Retrospective cross-sectional study including 239 consecutively admitted neonates with MAS to a level III NICU.

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To perform a systematic review assessing accuracy and completeness of diagnostic studies of procalcitonin (PCT) for early-onset neonatal sepsis (EONS) using the Standards for Reporting of Diagnostic Accuracy (STARD) initiative.EONS, diagnosed during the first 3 days of life, remains a common and serious problem. Increased PCT is a potentially useful diagnostic marker of EONS, but reports in the literature are contradictory.

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Purpose: The purpose of this study is to describe features of cystic periventricular leukomalacia (PVL) in a large consecutive cohort study including long-term neurodevelopmental follow-up.

Methods: We performed a retrospective single-centre cohort study including all preterm infants ≤35 weeks of gestational age with PVL diagnosed by ultrasound scans (US) from a tertiary care university hospital between 1988 and 2012.

Results: The majority of 160 consecutively diagnosed cases had a gestational age between 28 and 32 weeks (60.

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In 1998, a systemic fetal cytokine response, defined as a plasma interleukin-6 (IL-6) value above 11 pg/mL, was reported to be a major independent risk factor for the subsequent development of neonatal morbid events even after adjustments for gestational age and other confounders. Since then, the body of literature investigating the use of blood concentrations of IL-6 as a hallmark of the fetal inflammatory response syndrome (FIRS), a diagnostic marker of early-onset neonatal sepsis (EONS) and a risk predictor of white matter injury (WMI), has grown rapidly. In this article, we critically review: IL-6 biological functions; current evidence on the association between IL-6, preterm birth, FIRS and EONS; IL-6 reference intervals and dynamics in the early neonatal period; IL-6 response during the immediate postnatal period and perinatal confounders; accuracy and completeness of IL-6 diagnostic studies for EONS (according to the Standards for Reporting of Diagnostic Accuracy statement); and recent breakthroughs in the association between fetal blood IL-6, EONS, and WMI.

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Objectives: Although amphotericin B (AmB) and its lipid formulations are used for the treatment of fungal infections of the CNS, the kinetics of AmB in the CSF after intravenous administration of liposomal amphotericin B (LAmB) are not well characterized.

Patients And Methods: From 14 paediatric haemato-oncological patients (aged 0.4-19.

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We studied the predictive value of cord blood procalcitonin (PCT) and interleukin-6 (IL-6) in the diagnosis of early-onset sepsis (EOS) in the preterm infant. Retrospectively, PCT and IL-6 were correlated with clinical and/or blood culture positive EOS and negative infectious status between February 2008 and March 2011. Receiver operating curves (ROC) were generated and the area under the curve (AUC) was calculated by use of Youden's Index to detect the best cut-off values for sensitivity and specificity.

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Aim of this study was to describe the course of perinatal factors in neonates with meconium aspiration syndrome (MAS) from 1990 to 2010 and to determine risk factors for a severe course of the disease.All neonates with MAS hospitalized in our level III neonatal intensive care unit from 1990 to 2010.Retrospective analysis of trends of perinatal factors in neonates with MAS over time and of the association of these factors with severe MAS (need for invasive mechanical ventilation for ≥7 days, or need for high frequency oscillation or need for extracorporeal membrane oxygenation).

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Objective: The aim of this study was to show and discuss an association between fetal inflammatory response syndrome (FIRS) and an adverse neonatal outcome defined as combined severe neonatal morbidity and mortality in preterm neonates hospitalized in our neonatal intensive care unit.

Study Design: This was an observational study including all preterm neonates hospitalized in our neonatal intensive care unit over a 21 month period. FIRS was defined as cord blood interleukin (IL)-6 greater than 11 pg/mL.

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