The history of circadian rhythm research in Austria.

In view of the recent revival of interest in circadian biology and circadian epidemiology at the Medical University of Vienna, it seems appropriate to highlight the rich and pioneering history of circadian research in Austria. Among the forefathers of circadian research in Vienna are Otto Marburg (1874-1948), who discovered important elements of the pineal gland physiology, Robert Hofstätter (1883-1970), who used pineal gland extract in obstetrics/gynecology, and Paul Engel (1907-1997), who discovered that the pineal gland was controlled by light. More recently, Vera Lapin (1920-2007) showed that surgical removal of the pineal gland increased tumor growth, while Franz Waldhauser (*1946) investigated melatonin in conjunction with night work.

A comprehensive suite of earthquake catalogues for the 2016-2017 Central Italy seismic sequence.

The protracted nature of the 2016-2017 central Italy seismic sequence, with multiple damaging earthquakes spaced over months, presented serious challenges for the duty seismologists and emergency managers as they assimilated the growing sequence to advise the local population. Uncertainty concerning where and when it was safe to occupy vulnerable structures highlighted the need for timely delivery of scientifically based understanding of the evolving hazard and risk. Seismic hazard assessment during complex sequences depends critically on up-to-date earthquake catalogues-i.

An assessment of what Hans Asperger knew about child euthanasia in Vienna during the Nazi occupation.

Aim: Hans Asperger is probably best known for Asperger syndrome. However, he has been accused of knowingly and willingly participating in the National Socialist Child Euthanasia programme by referring patients to the Am Spiegelgrund children's home in Vienna. This later became notorious for euthanising disabled children.

Machine learning reveals cyclic changes in seismic source spectra in Geysers geothermal field.

The earthquake rupture process comprises complex interactions of stress, fracture, and frictional properties. New machine learning methods demonstrate great potential to reveal patterns in time-dependent spectral properties of seismic signals and enable identification of changes in faulting processes. Clustering of 46,000 earthquakes of 0.

Seismic constraints on caldera dynamics from the 2015 Axial Seamount eruption.

Seismic observations in volcanically active calderas are challenging. A new cabled observatory atop Axial Seamount on the Juan de Fuca ridge allows unprecedented real-time monitoring of a submarine caldera. Beginning on 24 April 2015, the seismic network captured an eruption that culminated in explosive acoustic signals where lava erupted on the seafloor.

Dynamics of a seafloor-spreading episode at the East Pacific Rise.

Seafloor spreading is largely unobserved because 98 per cent of the global mid-ocean-ridge system is below the ocean surface. Our understanding of the dynamic processes that control seafloor spreading is thus inferred largely from geophysical observations of spreading events on land at Afar in East Africa and Iceland. However, these are slow-spreading centres influenced by mantle plumes.

Child Health Care Services in Austria.

We describe child health care in Austria, a small country in Central Europe with a population of about 9 million inhabitants of whom approximately 1.7 million are children and adolescents under the age of 20 years. For children and adolescents, few health care indicators are available.

Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.

Context: Rare haplotypes with Q318X mutations and duplicated CYP21A2 genes have been reported to occur in different populations to a varying extent. Discrimination between a normal (Q318X mutation on one of the duplicated CYP21A2 genes) and a congenital adrenal hyperplasia (CAH, Q318X mutation without duplicated functional gene) allele is of importance, particularly for prenatal diagnosis and the respective genetic counseling. Although methods to differentiate between such alleles have been published only recently, it remains unclear with which frequency Q318X mutations are associated with duplicated CYP21A2 genes and whether these haplotypes have a common ancestry.

A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.

Background/aim: 11-beta-hydroxylase deficiency (11betaOHD) is caused by CYP11B1 gene defects and leads to congenital adrenal hyperplasia associated with hypertension. Recently, a novel L299P mutation has been described in a compound heterozygous male individual. We observed two 46,XX siblings with a homozygous L299P mutation and investigated the functional properties of this CYP11B1 variant.

Seismic identification of along-axis hydrothermal flow on the East Pacific Rise.

Hydrothermal circulation at the axis of mid-ocean ridges affects the chemistry of the lithosphere and overlying ocean, supports chemosynthetic biological communities and is responsible for significant heat transfer from the lithosphere to the ocean. It is commonly thought that flow in these systems is oriented across the ridge axis, with recharge occurring along off-axis faults, but the structure and scale of hydrothermal systems are usually inferred from thermal and geochemical models constrained by the geophysical setting, rather than direct observations. The presence of microearthquakes may shed light on hydrothermal pathways by revealing zones of thermal cracking where cold sea water extracts heat from hot crustal rocks, as well as regions where magmatic and tectonic stresses create fractures that increase porosity and permeability.

Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.

Activation of the V2 receptor by arginine vasopressin (AVP) results in trafficking of the water channel AQP2 to the luminal plasma membrane and a small amount into the urine. Mutations in the A VPR2 gene, encoding the AVP V2 receptor, result in congenital nephrogenic diabetes insipidus (CNDI). To determine a correlation between A VPR2 mutations and urinary AQP2 excretion, immunobloting was used to detect AQP2 in the urine of patients with CNDI before and after a dehydration test.

Long-term stability of amino acids and acylcarnitines in dried blood spots.

Background: Dried blood filter cards, collected for newborn screening, are often stored for long periods of time. They may be suitable for the retrospective diagnosis of inborn errors of metabolism, but no data are currently available on the long-term stability of amino acids and acylcarnitine species.

Methods: We analyzed amino acids and acylcarnitines by tandem mass spectrometry in 660 anonymous, randomly selected filter cards from 1989 through 2004.

A sea-floor spreading event captured by seismometers.

Two-thirds of Earth's surface is formed at mid-ocean ridges, yet sea-floor spreading events are poorly understood because they occur far beneath the ocean surface. At 9 degrees 50'N on the East Pacific Rise, ocean-bottom seismometers recently recorded the microearthquake character of a mid-ocean ridge eruption, including precursory activity. A gradual ramp-up in activity rates since seismic monitoring began at this site in October 2003 suggests that eruptions may be forecast in the fast-spreading environment.

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.

This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants who died suddenly between 7 days and 12 months of age and whose cause of death could not be identified. 17-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay and positive samples were subsequently genotyped.

Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function.

Depot gonadotropin releasing hormone (GnRH) agonist (GnRHa) therapy is the treatment of choice for patients with central precocious puberty (CPP). It is still unclear whether long-term exposure to GnRHa is associated with impaired reproductive function in adulthood. The present study was performed on 46 women, former CPP patients, 12.

Implications for prediction and hazard assessment from the 2004 Parkfield earthquake.

Obtaining high-quality measurements close to a large earthquake is not easy: one has to be in the right place at the right time with the right instruments. Such a convergence happened, for the first time, when the 28 September 2004 Parkfield, California, earthquake occurred on the San Andreas fault in the middle of a dense network of instruments designed to record it. The resulting data reveal aspects of the earthquake process never before seen.

Inner core differential motion confirmed by earthquake waveform doublets.

We analyzed 18 high-quality waveform doublets with time separations of up to 35 years in the South Sandwich Islands region, for which the seismic signals have traversed the inner core as PKP(DF). The doublets show a consistent temporal change of travel times at up to 58 stations in and near Alaska, and they show a dissimilarity of PKP(DF) coda. Using waveform doublets avoids artifacts of earthquake mislocations and contamination from small-scale heterogeneities.

Loss of normal circadian profile of urine excretion in idiopathic restless legs syndrome.

Background: This study was performed to elucidate preliminary observations of excessive nighttime urine excretion in idiopathic restless legs syndrome (iRLS).

Methods: Seventeen patients, with normal serum creatinine, blood urea nitrogen, and urate, and 11 healthy controls were examined. We measured excretory renal function parameters (urine volume, osmolarity, sodium, chloride, potassium, calcium, phosphate, microalbumin, aldosterone, creatinine) between 7:00 am and 10:00 pm and between 10:00 pm and 7:00 am.

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.

Objective: To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype- phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH database, and to design a reliable and rational approach for CYP21 mutation detection in Middle European populations.

Design And Methods: Molecular analysis of the CYP21 gene was performed in 432 CAH patients and 298 family members. Low-resolution genotyping was performed to detect the eight most common point mutations.

Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

Objective: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Its most important rationale is prevention of a life-threatening salt-wasting (SW) crisis; in moderate forms of CAH, early diagnosis and treatment may prevent permanent negative effects of androgen overproduction. Our target was to analyse if all CAH patients who had been identified clinically before puberty would have been detected by the newborn screening.

Central diabetes insipidus as presenting symptom of Langerhans cell histiocytosis.

Background And Objectives: Central diabetes insipidus (CDI) is a rare disorder associated with various underlying diseases. Among the systemic diseases that may cause CDI, Langerhans cell histiocytosis (LCH) is the most common. Therefore, in patients with endocrinologically proven CDI, a comprehensive diagnostic evaluation is crucial to identify possible extracranial sites of LCH.

Increase in 6-hydroxymelatonin excretion in humans during ascent to high altitudes.

Melatonin (MLT), the pineal gland hormone involved in the regulation of circadian rhythms, shows characteristic diurnal variation. Its physiological role in humans is not clear. Exposure to high altitudes may disrupt the circadian rhythm and lead to various endocrine changes.

Pineal gland abnormalities in Langerhans cell histiocytosis.

Background: The most common types of central nervous system (CNS) disease in Langerhans cell histiocytosis (LCH) comprise involvement of the hypothalamic-pituitary region (HPR) and neurodegenerative changes in the cerebellum, basal ganglia or pons. In the review process of magnetic resonance images (MRI) from 129 LCH patients a high frequency of cysts within or large pineal glands was noted by chance.

Procedure: To prove whether this observation was specific for LCH or not, we compared MRI findings of the HPR in LCH patients with a control group of 55 non-LCH patients with the same age and sex distribution.

Urinary 6-hydroxy-melatonin-sulfate excretion and circadian rhythm in patients with restless legs syndrome.

The precise etiology of the restless legs syndrome (RLS) is unknown. Sensory and motor symptoms of RLS worsen during evening/night, coincident with the physiological peak of pineal melatonin excretion. Decreased melatonin levels have been reported in insomnia, which is an associated feature of RLS.