Spinocerebellar ataxia 15: A phenotypic review and expansion

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders

A multi-wavelength search for a counterpart of the unidentified gamma-ray source 3EG J2020+4017 (2CG078+2)

In search of the counterpart to the brightest unidentified gamma-ray source 3EG J2020+4017 we report on new X-ray and radio observations of the gamma-Cygni field with the Chandra X-ray Observatory and with the Green Bank Telescope. We also report on reanalysis of archival ROSAT data. With Chandra it became possible for the first time to measure the position of the putative gamma-ray counterpart RX J2020.2+4026 with sub-arcsec accuracy and to deduce its X-ray spectral characteristics. These observations demonstrate that RX J2020.2+4026 is associated with a K field star and therefore is unlikely to be the counterpart of the bright gamma-ray source 2CG078+2 in the SNR G78.2+2.1 as had been previously suggested. The Chandra observation detected 37 additional X-ray sources which were correlated with catalogs of optical and infrared data. Subsequent GBT radio observations covered the complete 99% EGRET likelihood contour of 3EG J2020+4017 with a sensitivity limit of L_820 ~ 0.1 mJy kpc^2 which is lower than most of the recent deep radio search limits. If there is a pulsar operating in 3EG J2020+4017 this sensitivity limit suggests that the pulsar either does not produce significant amounts of radio emission or that its geometry is such that the radio beam does not intersect with the line of sight. Finally, reanalysis of archival ROSAT data leads to a flux upper limit of f_x < 1.8 x 10^-13 erg s^-1 cm^-2 for a putative point-like X-ray source located within the 68% confidence contour of 3EG J2020+4017. Adopting the SNR age of 5400 yrs and assuming a spin-down to X-ray energy conversion factor of 10^-4 this upper limit constrains the parameters of a putative neutron star as a counterpart for 3EG J2020+4017 to be P >= 160 (d/1.5 kpc)^-1 ms, P_dot >= 5 x 10^-13 (d/1.5 kpc)^-1 s s^-1 and B_perp >= 9 x 10^12 (d/1.5 kpc)^-1 G.Comment: Accepted for publication in ApJ. A PDF version of the accepted paper with higher resolution images is available at ftp://www.xray.mpe.mpg.de/people/web/gamma-Cygn

The effects of salinity and temperature on the development and survival of fish parasites

In brackish water the variety of marine and freshwater parasite species is considerably reduced. The distribution in brackish water of most marine endoparasites is restricted by the salinity tolerance of their hosts, most of the parasite species are more tolerant than their hosts. The influence of salinity and temperature on nine species has been examined; first stage larvae of Contracaecum aduncum develop in 0-32‰ salinity; Cryptocotyle lingua proved to be infective at salinities down to 4‰. The greatest resistance was found in Anisakis larvae from herring Clupea harengus, which survived for more than half a year. Parasites in the fish intestines appear to be unaffected by changing water salinities, as the osmolarity in the intestines stays nearly constant. Marine ectoparasites (Acanthochondria depressa, Lepeophtheirus pectoralis) survive about three times longer than freshwater species (Piscicola geometra, Argulus foliaceus) when salinity is 16‰. High temperature increases the effects of adverse salinities on parasites. There is evidence that none of these ecto-parasitic species can develop within the range of 7-20‰ salinity

In NPH, setting valve opening pressure close to lumbar puncture opening pressure decreases overdrainage

Background. The management of normal pressure hydrocephalus (NPH) can be difficult, partly because there are frequent treatment complications such as overdrainage which, when serious, may require surgical intervention. We previously reported a correlation between the difference of lumbar puncture opening pressure minus the valve opening pressure setting (LPOP–VOP) (which we refer to as the delta) and increased rates of overdrainage. This led to a modification in our practice, whereby we now set the VOP equal to, or close to, the LPOP, resulting in lower deltas. Objective. In this new study, our aim was to compare the rate of overdrainage in our patients with higher and lower deltas and assess the significance of setting the VOP equal, or close, to the patient’s LPOP. Methods. 1. We reproduced the association between delta and overdrainage. 2. We compared the incidence of overdrainage in those whose VOP was set close to LPOP (low delta) versus those with VOP setting distant from the LPOP (higher delta). 3. We compared symptom improvement in those with a low versus higher delta. Results. We confirmed the relation between high delta and an increased rate of overdrainage, lower rates of overdrainage in those whose VOP was set close to the LPOP (Delta Adjusted Practice), and better improvement of symptoms when the VOP was set closer to the LPOP. Conclusion. We propose that the initial VOP should be set as close as possible to the patient’s LPOP to decrease overdrainage without compromising symptom improvement

Drusen of the iris: in advanced malignant choroidal melanoma

Drusen were found in the iris between the layers of the pigment epithelium and the dilator muscle in an eye of a 52 year old patient that contained a large malignant choroidal melanoma. The significance of this unusual observation in comparison to the common drusen of Bruch's membrane of the choroid is discussed. In einem Auge einer 52jährigen Patientin, das wegen eines Melanoms der Aderhaut enukleiert werden mußte, fanden sich Drusen der Regenbogenhaut, die zwischen dem Pigmentepithel und dem Dilatator-Muskel lagen. Die Bedeutung dieser Drusen im Vergleich zu den Drusen der Aderhaut wird erörtert.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47368/1/417_2004_Article_BF00506637.pd

The state of the Martian climate

60°N was +2.0°C, relative to the 1981–2010 average value (Fig. 5.1). This marks a new high for the record. The average annual surface air temperature (SAT) anomaly for 2016 for land stations north of starting in 1900, and is a significant increase over the previous highest value of +1.2°C, which was observed in 2007, 2011, and 2015. Average global annual temperatures also showed record values in 2015 and 2016. Currently, the Arctic is warming at more than twice the rate of lower latitudes

Enabling and Enhancing Science Exploration Across the Solar System: Aerocapture Technology for SmallSat to Flagship Missions

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