Balloon-mounted covered stent as endovascular management of a traumatic cervical internal carotid artery pseudoaneurysm in a 23-year-old: a case report.

Background: Distal cervical internal carotid artery (cICA) pseudoaneurysms are uncommon. They may lead to thromboembolic or hemorrhagic complications, especially in young adults. We report one of the first cases in the literature regarding the management via PK Papyrus (Biotronik, Lake Oswego, Oregon, USA) balloon-mounted covered stent of a 23-year-old male with an enlarging cervical carotid artery pseudoaneurysm and progressive internal carotid artery stenosis. Case Description: We report the management of a 23-year-old male with an enlarging cervical carotid artery pseudoaneurysm and progressive internal carotid artery stenosis. Based on clinical judgment and imaging analysis, the best option to seal the aneurysm was a PK Papyrus 5×26 balloon-mounted covered stent. A follow-up angiogram showed no residual filling of the pseudoaneurysm, but there was some contrast stagnation just proximal to the stent, which is consistent with a residual dissection flap. We then deployed another PK Papyrus 5×26 balloon-mounted covered stent, providing some overlap at the proximal end of the stent. An angiogram following this subsequent deployment demonstrated complete reconstruction of the cICA with no residual evidence of pseudoaneurysm or dissection flap. There were no residual in-stent stenosis or vessel stenosis. The patient was discharged the day after the procedure with no complications. Conclusions: These positive outcomes support the use of a balloon-mounted covered stent as a safe and feasible modality with high technical success for endovascular management of pseudoaneurysm.

Imputation strategies for genomic prediction using nanopore sequencing.

BACKGROUND: Genomic prediction describes the use of SNP genotypes to predict complex traits and has been widely applied in humans and agricultural species. Genotyping-by-sequencing, a method which uses low-coverage sequence data paired with genotype imputation, is becoming an increasingly popular SNP genotyping method for genomic prediction. The development of Oxford Nanopore Technologies' (ONT) MinION sequencer has now made genotyping-by-sequencing portable and rapid. Here we evaluate the speed and accuracy of genomic predictions using low-coverage ONT sequence data in a population of cattle using four imputation approaches. We also investigate the effect of SNP reference panel size on imputation performance. RESULTS: SNP array genotypes and ONT sequence data for 62 beef heifers were used to calculate genomic estimated breeding values (GEBVs) from 641 k SNP for four traits. GEBV accuracy was much higher when genome-wide flanking SNP from sequence data were used to help impute the 641 k panel used for genomic predictions. Using the imputation package QUILT, correlations between ONT and low-density SNP array genomic breeding values were greater than 0.91 and up to 0.97 for sequencing coverages as low as 0.1 × using a reference panel of 48 million SNP. Imputation time was significantly reduced by decreasing the number of flanking sequence SNP used in imputation for all methods. When compared to high-density SNP arrays, genotyping accuracy and genomic breeding value correlations at 0.5 × coverage were also found to be higher than those imputed from low-density arrays. CONCLUSIONS: Here we demonstrated accurate genomic prediction is possible with ONT sequence data from sequencing coverages as low as 0.1 × , and imputation time can be as short as 10 min per sample. We also demonstrate that in this population, genotyping-by-sequencing at 0.1 × coverage can be more accurate than imputation from low-density SNP arrays.

Results from the Radiation Assessment Detector on the International Space Station: Part 1, the Charged Particle Detector.

We report the results of the first six years of measurements of the energetic particle radiation environment on the International Space Station (ISS) with the Radiation Assessment Detector (ISS-RAD), spanning the period from February 2016 to February 2022. The first RAD was designed and built for MSL, the Mars Science Laboratory rover, also known as Curiosity; it has been operating on Mars since 2012 and is referred to here as MSL-RAD. ISS-RAD combines two sensor heads, one nearly identical to the single MSL-RAD sensor head, the other with greatly enhanced sensitivity to fast neutrons. These two sensor heads are referred to as the Charged Particle Detector (CPD) and Fast Neutron Detector (FND), respectively. Despite its name, the CPD is also capable of measuring high-energy neutrons and γ-rays, as is MSL-RAD. ISS-RAD was flown to the ISS in December 2015 and was deployed in February 2016, initially in the USLab module. RAD was used as a survey instrument from January 2017 through May 2020, when the instrument was positioned in the USLab and set to a zenith-pointing orientation. The energetic particle environment on the ISS is complex and varies on short time scales owing to the orbit, which has a 51.6∘ inclination with respect to the equator and has had an altitude in the 400-440 km range in this time period. The ISS moves continuously through the geomagnetic field, the strength of which varies with latitude, longitude, and altitude. The orbit passes through the South Atlantic Anomaly (SAA) several times a day, where magnetically trapped protons and electrons produce large but transient increases in observed fluxes and absorbed dose rates. The environment inside the ISS is affected by the solar cycle, altitude, and the local shielding, which varies between different ISS modules. We report results for charged particle absorbed dose and dose equivalent rates in various positions in the ISS. In an accompanying paper, we report similar results for neutron dose equivalent rates obtained with the ISS-RAD Fast Neutron Detector.

Results from the Radiation Assessment Detector on the International Space Station, Part 2: The fast neutron detector.

We report the results of the first six years of measurements of so-called fast neutrons on the International Space Station (ISS) with the Radiation Assessment Detector (ISS-RAD), spanning the period from February 2016 to February 2022. ISS-RAD combines two sensor heads, one nearly identical to the single sensor head in the Mars Science Laboratory RAD (MSL-RAD). The latter is described in a companion article to this one. The novel sensor is the FND, or fast neutron detector, designed to measure neutrons with energies in the range from 200 keV to about 8 MeV. ISS-RAD was deployed in February 2016 in the USLAB module, and then served as a survey instrument from March 2017 until May 2020. Data were acquired in Node3, the Japanese Pressurized Module, Columbus, and Node2. At the conclusion of the survey portion of RAD's planned 10-year campaign on ISS, the instrument was stationed in the USLAB; current plans call for it to remain there indefinitely. The radiation environment on the ISS consists of a complex mix of charged and neutral particles that varies on short time scales owing to the Station's orbit. Neutral particles, and neutrons in particular, are of concern from a radiation protection viewpoint, because they are both highly penetrating (since they do not lose energy via direct ionization) and, at some energies, have high biological effectiveness. Neutrons are copiously produced by GCRs and other incident energetic particles when they undergo nuclear interactions in shielding. As different ISS modules have varying amounts of shielding, they also have varying neutron environments. We report results for neutron fluences and dose equivalent rates in various positions in the ISS.

Results from the Radiation Assessment Detector on the International Space Station: Part 3, combined results from the CPD and FND.

The energetic particle radiation environment on the International Space Station (ISS) includes both charged and neutral particles. Here, we make use of the unique capabilities of the Radiation Assessment Detector (ISS-RAD) to measure both of these components simultaneously. The Charged Particle Detector (CPD) is, despite its name, capable of measuring neutrons in the energy range from about 4 MeV to a few hundred MeV. Combined with data from the Fast Neutron Detector (FND) in the 0.2 to 8 MeV range, we present the first broad-spectrum measurements of the neutron environments in various locations within the ISS since an early Bonner-Ball experiment that was conducted before the Station was fully constructed. The data presented here span the time period from February 2016 to February 2022. In addition to presenting broad-spectrum neutron fluence measurements, we show correlations of the measured neutron dose equivalent with charged-particle dose rates. The ratio of charged-particle dose to neutron dose equivalent is found to be relatively stable within the ISS.

Autistic traits at neurodevelopmental assessment for very preterm infants.

Aim The aim of this study was to establish the prevalence of autistic traits at childhood neurodevelopmental assessment in a premature cohort and to assess associated perinatal exposures. Methods An observational retrospective case-control study was conducted in a single tertiary neonatal unit. All infants born weighing =1500 grams and/or =32/40 weeks who attended for neurodevelopmental assessment in 2019 were eligible. Results 96 preterm infants met the inclusion criteria. 22 (23%) in the case group demonstrated clinical features of autism at early childhood assessment. The remaining 74 acted as a control group. In the case group 18 (82%) were male. There was no difference in rate of multiple births between the groups. There was no statistically significant difference in maternal age or indication for delivery. Male phenotype (p=0.003), non-Irish ethnicity (p=0.005), vaginal delivery (p=0.005) and abnormal cranial ultrasound (p=0.009) occurred more frequently in the case group. Use of assistive reproductive technologies occurred less frequently in the case group (p=0.047). In the case group, 10/14 of the composite scores measured on Bayleys-3 at a median (IQR) age of 32 (31-35) months showed statistically significant differences (p<0.003). Discussion Our study strongly supports increasing awareness of the association between prematurity and autism. It highlights the need for targeted neurodevelopmental follow-up to support early detection of autism, allowing for timely intervention. Further investigation in a larger prospective cohort may further delineate the various perinatal risk factors for autism.

Developing flexible models for genetic evaluations in smallholder crossbred dairy farms.

The productivity of smallholder dairy farms is very low in developing countries. Important genetic gains could be realized using genomic selection, but genetic evaluations need to be tailored for lack of pedigree information and very small farm sizes. To accommodate this situation, we propose a flexible Bayesian model for the genetic evaluation of milk yield, which allows us to simultaneously account for nongenetic random effects for farms and varying SNP variance (BayesR model). First, we used simulations based on real genotype data from Indian crossbred dairy cattle to demonstrate that the proposed model can separate the true genetic and nongenetic parameters even for small farm sizes (2 cows on average) although with high standard errors in scenarios with low heritability. The accuracy of genomic genetic evaluation increased until farm size was approximately 5. We then applied the model to real data from 4,655 crossbred cows with 106,109 monthly test day milk records and 689,750 autosomal SNPs. We estimated a heritability of 0.16 (0.04) for milk yield and using cross-validation, a genomic estimated breeding value (GEBV) accuracy of 0.45 and bias (regression of phenotype on GEBV) of 1.04 (0.26). Estimated genetic parameters were very similar using BayesR, BayesC, and genomic BLUP approaches. Candidate genes near the top variants, IMMP2L and ARHGEF2, have been previously associated with milk protein composition, mastitis resistance, and milk cholesterol content. The estimated heritability and GEBV accuracy for milk yield are much lower than those from intensive or pasture-based systems in many countries. Further increases in the number of phenotyped and genotyped animals in farms with at least 2 cows (preferably 3-5, to allow for dropout of cows) are needed to improve the estimation of genetic effects in these smallholder dairy farms.

Thrombosed orbital varix of the inferior ophthalmic vein: A rare cause of acute unilateral proptosis.

Background: Orbital varices are rare, accounting for only 0-1.3% of orbital masses. They can be found incidentally or cause mild to serious sequelae, including hemorrhage and optic nerve compression. Case Description: We report a case of a 74-year-old male with progressively painful unilateral proptosis. Imaging revealed the presence of an orbital mass compatible with a thrombosed orbital varix of the inferior ophthalmic vein in the left inferior intraconal space. The patient was medically managed. On a follow-up outpatient clinic visit, he demonstrated remarkable clinical recovery and denied experiencing any symptoms. Follow-up computed tomography scan showed a stable mass with decreased proptosis in the left orbit consistent with the previously diagnosed orbital varix. One-year follow-up orbital magnetic resonance imaging without contrast showed slight increase in the intraconal mass. Conclusion: An orbital varix may present with mild to severe symptoms and management, depending on case severity, ranges from medical treatment to escalated surgical innervation. Our case is one of few progressive unilateral proptosis caused by a thrombosed varix of the inferior ophthalmic vein described in the literature. We encourage further investigation into the causes and epidemiology of orbital varices.

Ancient Schwannoma Presenting at the Cauda Equina: A Report of a Rare Case.

Ancient schwannoma is an uncommon variant of schwannoma. While many reports have presented defining histologic and clinical features of ancient schwannoma, there are only a very few cases in the literature, to our knowledge, of ancient schwannoma presenting at the cauda equina. The current report of ancient schwannoma presenting at the cauda equina adds to the literature and discusses the identification of specific histologic characteristics, the role of conservative medical management, surgical resection, and prognostication in this select subset of patients.

Middle Meningeal Artery Embolization for Chronic Subdural Hematoma Related to Autosomal Dominant Polycystic Kidney Disease.

Autosomal dominant polycystic kidney disease (ADPKD) is a connective tissue disease with vascular abnormalities involving multiple organs. The prevalence of ADPKD associated with a spontaneous subdural hematoma (SDH) is very low, with less than 10 cases reported in the literature to date. Symptomatic chronic SDH is classically treated with a twist drill, burr holes, or craniotomy. Recently, middle meningeal artery (MMA) embolization has emerged as an ancillary modality. We present the first case in the literature of a bilateral SDH in a young ADPKD patient successfully managed with MMA embolization. Moreover, we discuss the role of different treatment modalities on this subset of patients.

CELPI: trial protocol for a randomised controlled trial of a Carer End of Life Planning Intervention in people dying with dementia.

BACKGROUND: Dementia is a leading cause of death in developed nations. Despite an often distressing and symptom laden end of life, there are systematic barriers to accessing palliative care in older people dying of dementia. Evidence exists that 70% of people living with severe dementia attend an emergency department (ED) in their last year of life. The aim of this trial is to test whether a Carer End of Life Planning Intervention (CELPI), co-designed by consumers, clinicians and content specialists, improves access to end of life care for older people with severe dementia, using an ED visit as a catalyst for recognising unmet needs and specialist palliative care referral where indicated. METHODS: A randomised controlled trial (RCT) enrolling at six EDs across three states in Australia will be conducted, enrolling four hundred and forty dyads comprising a person with severe dementia aged ≥ 65 years, and their primary carer. Participants will be randomly allocated to CELPI or the control group. CELPI incorporates a structured carer needs assessment and referral to specialist palliative care services where indicated by patient symptom burden and needs assessment. The primary outcome measure is death of the person with dementia in the carer-nominated preferred location. Secondary outcomes include carer reported quality of life of the person dying of dementia, hospital bed day occupancy in the last 12 months of life, and carer stress. An economic evaluation from the perspective of a health funder will be conducted. DISCUSSION: CELPI seeks to support carers and provide optimal end of life care for the person dying of dementia. This trial will provide high level evidence as to the clinical and cost effectiveness of this intervention. TRIAL REGISTRATION: ACTRN12622000611729 registered 22/04/2022.

Basal ganglia echogenicity in preterm infants: A case series.

BACKGROUND: Damage to the basal ganglia and thalamus (BGT) can be caused by multiple perinatal factors and may be associated with movement disorders, cognitive delay and visual difficulties. Changes in BGT structure, seen as echogenicity on ultrasound, are difficult to objectively quantify. The aetiology, clinical relevance and developmental outcomes of BGT echogenicity are poorly understood. We aimed to gain a better understanding of the natural history of BGT echogenicity in a preterm population. METHODS: Retrospective review of clinical course, neuroimaging and development in infants born <32weeks gestation over 5 years with evidence of BGT echogenicity. RESULTS: BGT echogenicity was reported in 18/650 infants (2.7%). Echogenicity appeared at a median of 8 days (2-45 days) and resolved on pre-discharge ultrasound in 50%. Thirteen infants had a term corrected MRI brain with abnormal BGT signal seen in 3 infants (23%). All 3 infants had persisting echogenicity on discharge ultrasound. No infant with echogenicity resolution on ultrasound had changes on term MRI. 14 infants had developmental progress available at 1 year corrected. Abnormal development was reported in four children of whom one had BGT changes on term MRI. Two children with persistent BGT changes but an otherwise normal MRI had reported normal neurodevelopment. CONCLUSION: BGT echogenicity is relatively common on routine ultrasound and resolves in the majority of infants by term corrected. This review suggests that at term corrected, normal cranial ultrasound may obviate the need for MRI where no other concerns exist. BGT echogenicity did not appear to independently influence neurodevelopment.

Evaluation of esmolol for heart rate control in patients with acute aortic dissection.

PURPOSE: Acute aortic dissection is a serious and life-threatening condition that requires prompt, effective management. The purpose of this study was to evaluate the efficacy and safety of esmolol for heart rate control in patients with acute aortic dissection in the Emergency Department (ED). METHODS: This was a retrospective, descriptive analysis of patients treated for type A or type B acute aortic dissection in the ED at an academic medical center. The primary outcome was the proportion of patients achieving strict (≤60 bpm) or lenient (≤80 bpm) heart rate control within the first 60 min of therapy at the study site. The primary safety endpoint was the incidence of hypotension, defined as a systolic blood pressure of <90 mmHg or a mean arterial pressure of ≤60 mmHg. RESULTS: Of 266 patients screened, 40 patients met inclusion criteria. Thirty-three patients (82.5%) attained lenient rate control within the first 60 min of esmolol therapy. Eleven patients (27.5%) achieved a strict heart rate goal within the first 60 min of esmolol therapy. Five patients (12.5%) experienced an episode of hypotension during the first 3 h of esmolol therapy. CONCLUSION: In patients treated with esmolol infusion for acute aortic dissection, a lenient HR goal was achieved in most patients. In contrast, esmolol was not associated with attainment of strict HR control in most patients included in this sample. Further studies are warranted to evaluate the exact role of esmolol in acute aortic dissection in a larger patient population.

Gene expression of the heat stress response in bovine peripheral white blood cells and milk somatic cells in vivo.

Heat stress in dairy cattle leads to reduction in feed intake and milk production as well as the induction of many physiological stress responses. The genes implicated in the response to heat stress in vivo are not well characterised. With the aim of identifying such genes, an experiment was conducted to perform differential gene expression in peripheral white blood cells and milk somatic cells in vivo in 6 Holstein Friesian cows in thermoneutral conditions and in 6 Holstein Friesian cows exposed to a short-term moderate heat challenge. RNA sequences from peripheral white blood cells and milk somatic cells were used to quantify full transcriptome gene expression. Genes commonly differentially expressed (DE) in both the peripheral white blood cells and in milk somatic cells were associated with the cellular stress response, apoptosis, oxidative stress and glucose metabolism. Genes DE in peripheral white blood cells of cows exposed to the heat challenge compared to the thermoneutral control were related to inflammation, lipid metabolism, carbohydrate metabolism and the cardiovascular system. Genes DE in milk somatic cells compared to the thermoneutral control were involved in the response to stress, thermoregulation and vasodilation. These findings provide new insights into the cellular adaptations induced during the response to short term moderate heat stress in dairy cattle and identify potential candidate genes (BDKRB1 and SNORA19) for future research.