On the probability of occurrence of rogue waves

A number of extreme and rogue wave studies have been conducted theoretically, numerically, experimentally and based on field data in the last years, which have significantly advanced our knowledge of ocean waves. So far, however, consensus on the probability of occurrence of rogue waves has not been achieved. The present investigation is addressing this topic from the perspective of design needs. Probability of occurrence of extreme and rogue wave crests in deep water is here discussed based on higher order time simulations, experiments and hindcast data. Focus is given to occurrence of rogue waves in high sea states

Model for Electrical Field Distribution in the Human Esophagus during Stimulation with Patch and Ring Electrodes

Introduction. Electrical stimulation is used in experimental human pain models. The aim was to develop a model that visualizes the distribution of electrical field in the esophagus close to ring and patch electrodes mounted on an esophageal catheter and to explain the obtained sensory responses. Methods. Electrical field distribution in esophageal layers (mucosa, muscle layers, and surrounding tissue) was computed using a finite element model based on a 3D model. Each layer was assigned different electrical properties. An electrical field exceeding 20 V/m was considered to activate the esophageal afferents. Results. The model output showed homogeneous and symmetrical field surrounding ring electrodes compared to a saddle-shaped field around patch electrodes. Increasing interelectrode distance enlarged the electrical field in muscle layer. Conclusion. Ring electrodes with 10 mm interelectrode distance seem optimal for future catheter designs. Though the model needs further validation, the results seem useful for electrode designs and understanding of electrical stimulation patterns

Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome.

Ethylmalonic encephalopathy (EE) is an autosomally recessive inherited disorder with a relentlessly progressive decline in neurological function, usually fatal by the age of ten. It is characterised by generalised hypotonia, psychomotor regression, spastic tetraparesis, dystonia, seizures and, eventually, global neurological failure. Approximately 50 reports have been published worldwide describing this devastating disease, most involving patients of Mediterranean or Arab origin. The fundamental defect in EE likely involves the impairment of a mitochondrial sulphur dioxygenase coded by the ETHE1 gene responsible for the catabolism of sulphide, which subsequently accumulates to toxic levels. A diagnosis of EE should initiate careful genetic evaluation and counselling, particularly if the parents intend to have additional offspring. The present report describes the diagnosis of EE in a reproductive endocrinology context, where both members of a non-consanguineous couple were confirmed to be carriers of an identical A↷G mutation. This previously unknown mutation at nucleotide position c.494 resulted in an amino acid substitution, p.Asp165Gly. Although consideration was given to in vitro fertilisation, embryo biopsy and single gene pre-implantation genetic diagnosis, the couple decided to first utilise a less aggressive therapeutic approach with donor sperm insemination. Pregnancy with a low risk of EE was indeed achieved; however, the infant was affected with a different anomaly (hypoplastic left heart). As this case demonstrates, prior to the initiation of fertility therapy, genetic analysis may be used to provide a confirmatory diagnosis when EE is suspected

Rotation of the pre-stellar core L1689B

The search for the onset of star formation in pre-stellar cores has focussed on the identification of an infall signature in the molecular line profiles of tracer species. The classic infall signature is a double peaked line profile with an asymmetry in the strength of the peaks such that the blue peak is stronger. L1689B is a pre-stellar core and infall candidate but new JCMT HCO+ line profile data, presented here, confirms that both blue and red asymmetric line profiles are present in this source. Moreover, a dividing line can be drawn between the locations where each type of profile is found. It is argued that it is unlikely that the line profiles can be interpreted with simple models of infall or outflow and that rotation of the inner regions is the most likely explanation. A rotational model is developed in detail with a new 3D molecular line transport code and it is found that the best type of model is one in which the rotational velocity profile is in between solid body and Keplerian. It is firstly shown that red and blue asymmetric line profiles can be generated with a rotation model entirely in the absence of any infall motion. The model is then quantitively compared with the JCMT data and an iteration over a range of parameters is performed to minmize the difference between the data and model. The results indicate that rotation can dominate the line profile shape even before the onset of infall.Comment: Accepted by MNRAS, 7 pages, 4 figure

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no longer subject to gene silencing through the X chromosome inactivation centre. We present a case where delineation of the extent of X chromosome-localised genes on the derivative autosome using molecular karyotyping offers critical information in the context of genetic counselling.