Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in ...a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later included extensive atrophy of the lower extremities, with severe progression, including the gluteal muscles, iliopsoas, rectus femoris, and obturator internus. There was also significant atrophy of the rectus abdominis and internal and external oblique muscles, and iliacus muscles. The MRI findings showed more proximal involvement of lower extremities and no atrophy of the tibialis anterior, making TOR1AIP1 the more likely genetic cause. Muscle biopsy findings supported TOR1AIP1 limb-girdle muscular dystrophy. Though rare, TOR1AIP1 gene mutation occurs in pediatric patients and MRI can aid in diagnosis and help differentiate from other types of muscular dystrophy. Genetic and pathology workup is also crucial to accurate diagnosis and possible treatment of these patients.
•Mutations in torsinA-interacting protein 1 gene result in a severe muscular dystrophy.•MRI findings included extensive atrophy of the lower extremities, with severe progression.•Muscle biopsy findings supported TOR1AIP1 limb-girdle muscular dystrophy.•TOR1AIP1 gene mutation occurs in pediatric patients and MRI can aid in diagnosis.
It is well recognised that medical training globally and at all levels lacks sufficient incorporation of genetics and genomics education to keep up with the rapid advances and growing application of ...genomics to clinical care. However, the best strategy to implement these desired changes into postgraduate medical training and engage learners is still unclear. We developed a novel elective rotation in 'Genomic Medicine and Undiagnosed Diseases' for categorical Internal Medicine Residents to address this educational gap and serve as an adaptable model for training that can be applied broadly across different specialties and at other institutions. Key curriculum goals achieved include increased understanding about genetic testing modalities and tools available for diagnosis and risk analysis, the role of genetics-trained allied health professionals, and indications and limitations of genetic and genomic testing in both rare and common conditions.
Despite the scientific and commercial interest that Atlantic halibut has received over the past decade, little is known of the ontogeny of its digestive tract during larval development. The provision ...of enriched
Artemia as prey has been associated with incomplete metamorphosis while improved development has been achieved using wild plankton e.g., copepods. The aim of the present study was to investigate whether there was any variation during development in the ability of the larvae to digest and incorporate
Artemia or copepods. Groups of larvae fed either
Artemia enriched with an oil emulsion (Super Selco™) and with a dried protist
Schizochytrium (Algamac 2000™) or with a marine calanoid copepod (
Eurytemora velox) were sampled weekly from the end of yolksac resorption to the completion of metamorphosis. The sites of absorption were visualised by the presence of vacuoles in the epithelial cells of the digestive tract's mucosa. During the first 30 days of exogenous feeding, before the stomach had formed, there were small inclusions on the apical side of the rectal epithelial cells in both groups. Between 30 and 50 days post first-feeding, at the time when the stomach was differentiating with the appearance of gastric glands, and the four pyloric caecae were starting to elongate, numerous supranuclear vacuoles were observed in the mid- and hind-gut epithelial cells of the copepod-fed group. The rectal epithelial cells showed lipid vacuoles that filled their apical ends suggesting significant absorptive activity. By contrast, few vacuoles were present in the rectum of the
Artemia-fed larvae. By the end of metamorphosis (up to 83 days post first-feeding), the copepod-fed larvae had an adult-like digestive tract with functional stomach and highly absorptive intestine. At the same age, the
Artemia-fed larvae showed that the rectum was still the major site of absorption; this is a typical larval feature. Furthermore, observations of the gut's content confirmed the poor ability of the halibut larvae to digest
Artemia in comparison to copepods. Indeed, while no individual copepod could be identified in the digestive chyme past the mid-gut of these larvae, partially digested
Artemia could be seen as far as the anus in those fed on
Artemia. Although the rate of development and of differentiation of the digestive tract of first-feeding halibut larvae appeared unaffected by the nature of their prey items, our results show a difference in the absorption sites of copepods vs.
Artemia. These findings are of considerable significance to the rearing techniques used in the commercial production of halibut juveniles.
A review is presented of UK hatchery rearing techniques for Atlantic halibut (
Hippoglossus hippoglossus L.), based on research findings and commercial practices. Operations from gamete collection ...through to weaning are covered, including reference to survival rates at each developmental phase. Areas of recent progress are discussed in relation to the remaining production bottlenecks and research requirements. Rearing techniques have been shaped to a large extent by the temperate water conditions prevailing at UK hatcheries. The requirement of halibut broodstocks and eggs/yolk sac larvae for cold, stable water conditions has placed an emphasis on intensive hatchery systems that incorporate accurate temperature control mechanisms. The energy costs associated with chilling are reduced by the use of low water flow rates and water recycling, where possible. Yolk sac larvae are reared in smaller tanks (500–2000 l volume) than conventional Norwegian-style `silos'. Configuration and husbandry procedures for this developmental stage have been modified accordingly, including early transfer of the yolk sac larvae to feeding tanks (at around 150–180 degree days post-hatch). The live feeding phase is mostly carried out indoors under artificial lighting. Feeding is typically initiated at an age of 220–250 degree days post-hatch. Brine shrimp,
Artemia sp., constitute the basis of the diet in most cases, with the exception of one commercial hatchery engaged in large scale copepod production. Recent research on this phase has focused on defining
Artemia enrichment protocols and methods of diet presentation, with the aim of improving the survival and growth rates of larvae, and their metamorphosis attributes. Crumbled feeds are used to wean halibut juveniles onto formulated diets. Recent improvements in hatchery survival rates, combined with greater egg availability, have enabled UK production capacity to rise to hundreds-of-thousands of juveniles per year using existing commercial facilities. Operators have identified the transition from late yolk sac phase to onset of feeding as the primary hurdle remaining in the hatchery rearing process and this is the subject of ongoing research into physical environmental conditions, handling methods and microbial conditions in the rearing tanks.
The Nancy Grace Roman Space Telescope is capable of delivering an unprecedented all-sky, high-spatial resolution, multi-epoch infrared map to the astronomical community. This opportunity arises in ...the midst of numerous ground- and space-based surveys that will provide extensive spectroscopy and imaging together covering the entire sky (such as Rubin/LSST, Euclid, UNIONS, SPHEREx, DESI, SDSS-V, GALAH, 4MOST, WEAVE, MOONS, PFS, UVEX, NEO Surveyor, etc.). Roman can uniquely provide uniform high-spatial-resolution (~0.1 arcsec) imaging over the entire sky, vastly expanding the science reach and precision of all of these near-term and future surveys. This imaging will not only enhance other surveys, but also facilitate completely new science. By imaging the full sky over two epochs, Roman can measure the proper motions for stars across the entire Milky Way, probing 100 times fainter than Gaia out to the very edge of the Galaxy. Here, we propose NANCY: a completely public, all-sky survey that will create a high-value legacy dataset benefiting innumerable ongoing and forthcoming studies of the universe. NANCY is a pure expression of Roman's potential: it images the entire sky, at high spatial resolution, in a broad infrared bandpass that collects as many photons as possible. The majority of all ongoing astronomical surveys would benefit from incorporating observations of NANCY into their analyses, whether these surveys focus on nearby stars, the Milky Way, near-field cosmology, or the broader universe.
We investigate the effects of a novel approach to diamond nanofabrication and nitrogen vacancy (NV) center formation on the optical linewidth of the NV zero-phonon line (ZPL). In this ...post-implantation method, nitrogen is implanted after all fabrication processes have been completed. We examine three post-implanted samples, one implanted with \(^{14}\)N and two with \(^{15}\)N isotopes. We perform photoluminescence excitation (PLE) spectroscopy to assess optical linewidths and optically detected magnetic resonance (ODMR) measurements to isotopically classify the NV centers. From this, we find that NV centers formed from nitrogen naturally occuring in the diamond lattice are characterized by a linewidth distribution peaked at an optical linewidth nearly two orders of magnitude smaller than the distribution characterizing most of the NV centers formed from implanted nitrogen. Surprisingly, we also observe a number of \(^{15}\)NV centers with narrow (\(<500\,\mathrm{MHz}\)) linewidths, implying that implanted nitrogen can yield NV centers with narrow optical linewidths. We further use a Bayesian approach to statistically model the linewidth distributions, to accurately quantify the uncertainty of fit parameters in our model, and to predict future linewidths within a particular sample. Our model is designed to aid comparisons between samples and research groups, in order to determine the best methods of achieving narrow NV linewidths in structured samples.
Neutral silicon vacancy centers (SiV0) in diamond are promising candidates for quantum networks because of their long spin coherence times and stable, narrow optical transitions. However, stabilizing ...SiV0 requires high purity, boron doped diamond, which is not a readily available material. Here, we demonstrate an alternative approach via chemical control of the diamond surface. We use low-damage chemical processing and annealing in a hydrogen environment to realize reversible and highly stable charge state tuning in undoped diamond. The resulting SiV0 centers display optically detected magnetic resonance and bulk-like optical properties. Controlling the charge state tuning via surface termination offers a route for scalable technologies based on SiV0 centers, as well as charge state engineering of other defects.
Replicate groups of halibut larvae were fed to d 71 post-first feeding (PFF) either the marine copepod, Eurytemora velox, or Artemia nauplii doubly enriched with the marine chromist or golden algae, ...Schizochytrium sp., (Algamac 2000) and a commercial oil emulsion (SuperSelco). The fatty acid compositions of eyes, brains and livers from larvae fed the two diets were measured, and indices of growth, eye migration and skin pigmentation were recorded along with histological examinations of eye and liver. The docosahexaenoic acid 22:6(n-3); DHA/eicosapentaenoic acid 20:5(n-3); EPA ratios in Artemia nauplii enriched with the SuperSelco and Algamac 2000 were 0.4 and 1.0, respectively. The E. velox copepods were divided into two size ranges (125-250 and 250-400 microm) with the smaller size range containing the highest level of (n-3) highly unsaturated fatty acids (HUFA). The DHA/EPA ratios for the two size ranges of copepods were 2.0 and 0.9, respectively. The total lipids of eyes, brains and livers of larvae fed copepods had higher levels of DHA and lower levels of EPA than those of larvae fed enriched Artemia. The percentage of survival of the halibut larvae was significantly higher when copepods rather than enriched Artemia nauplii were fed, but larval specific growth rates did not differ. The indices of eye migration were high and not significantly different in larvae fed the two diets, but the percentage of larvae undergoing successful metamorphosis (complete eye migration and dorsal pigmentation) was higher in larvae fed copepods (40%) than in larvae fed enriched Artemia (4%). The rod/cone ratios in histological sections of the retina were 2.5 +/- 0.7 in larvae fed copepods and 1.3 +/- 0.6 in larvae fed enriched Artemia (P < 0.01). Histological examination of the livers and intestines of the larvae were consistent with better assimilation of lipid from copepods than lipid from Artemia nauplii up to 46 d post-first feeding. Thus, marine copepods are superior to enriched Artemia as food for halibut larvae in terms of survival, eye development and pigmentation, and this superiority can be related to the level of DHA in the feed.
Replicate groups of halibut larvae were fed to d 71 post-first feeding (PFF) either the marine copepod, Eurytemora velox, or Artemia nauplii doubly enriched with the marine chromist or golden algae, ...Schizochytrium sp., (Algamac 2000) and a commercial oil emulsion (SuperSelco). The fatty acid compositions of eyes, brains and livers from larvae fed the two diets were measured, and indices of growth, eye migration and skin pigmentation were recorded along with histological examinations of eye and liver. The docosahexaenoic acid 22:6(n-3); DHA/eicosapentaenoic acid 20:5(n-3); EPA ratios in Artemia nauplii enriched with the SuperSelco and Algamac 2000 were 0.4 and 1.0, respectively. The E. velox copepods were divided into two size ranges (125–250 and 250–400 μm) with the smaller size range containing the highest level of (n-3) highly unsaturated fatty acids (HUFA). The DHA/EPA ratios for the two size ranges of copepods were 2.0 and 0.9, respectively. The total lipids of eyes, brains and livers of larvae fed copepods had higher levels of DHA and lower levels of EPA than those of larvae fed enriched Artemia. The percentage of survival of the halibut larvae was significantly higher when copepods rather than enriched Artemia nauplii were fed, but larval specific growth rates did not differ. The indices of eye migration were high and not significantly different in larvae fed the two diets, but the percentage of larvae undergoing successful metamorphosis (complete eye migration and dorsal pigmentation) was higher in larvae fed copepods (40%) than in larvae fed enriched Artemia (4%). The rod/cone ratios in histological sections of the retina were 2.5 ± 0.7 in larvae fed copepods and 1.3 ± 0.6 in larvae fed enriched Artemia (P < 0.01). Histological examination of the livers and intestines of the larvae were consistent with better assimilation of lipid from copepods than lipid from Artemia nauplii up to 46 d post-first feeding. Thus, marine copepods are superior to enriched Artemia as food for halibut larvae in terms of survival, eye development and pigmentation, and this superiority can be related to the level of DHA in the feed.
Diamond is a unique material with exceptional physical and chemical properties that offers potential for the realization of high-performance devices with novel functionalities. For example diamond's ...high refractive index, transparency over wide wavelength range, and large Raman gain are of interest for the implementation of novel photonic devices. Recently, atom-like impurities in diamond emerged as an exceptional system for quantum information processing, quantum sensing and quantum networks. For these and other applications, it is essential to develop an integrated nanophotonic platform based on diamond. Here, we report on the realization of such an integrated diamond photonic platform, diamond on insulator (DOI), consisting of a thin single crystal diamond film on top of an insulating silicon dioxide/silicon substrate. Using this approach, we demonstrate diamond ring resonators that operate in a wide wavelength range, including the visible (630nm) and near-infrared (1,550nm). Finally, we demonstrate an integrated, on-chip quantum nanophotonic network, consisting of ring resonators coupled to low loss waveguides with grating couplers, that enables the generation and efficient routing of single photons at room temperature.
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