Cerebrotendinous xanthomatosis is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues. Hence, we report clinical and imaging of a 31-year-old mentally retarded man with cerebellar ataxia, bilateral swelling of the posterior aspect of Achill, and infertility.

We reported a delayed diagnosised Chinese JATD case with mild skeletal phenotype, and presented with renal insufficiency as the initial symptom of disease onset. Novel bilateral c.2789C>T (p.S930L) mutations in WDR60 gene were identified. Our report will help to improve our awareness and diagnosibility for this disease in China.

The presence of multiple tracheal and bronchial diverticula is a rare condition. Most cases are asymptomatic however, few present with chronic or recurrent symptoms. We present a case of a 22-years old non-smoker male with a history of pulmonary tuberculosis, having multiple tracheal and bronchial diverticula.

In this paper, we derive two regularity criteria of solutions to the nematic liquid crystal flows. More precisely, we prove the local smooth solution $(u, d)$ is regular if and only if one of the following two conditions is satisfied: (i) $\nabla_{h} u_{h}\in L^{\frac{2p}{2p-3}}(0,T; L^{p}(\mathbb{R}^{3})),\ \partial_{3} d\in L^{\frac{2q}{q-3}}(0,T; L^{q}(\mathbb{R}^{3})),\ \frac{3}{2}< p\leq\infty,\ 3< q\leq\infty$; and (ii) $\nabla_{h} u_{h}\in L^{q}(0,T; L^{p}(\mathbb{R}^{3})),\ \frac{3}{p}+\frac{2}{q}\leq 1, \ 3

The buffy-tufted-ear marmoset (Callithrix aurita) is a small primate endemic to the Brazilian Atlantic Forest biome, and one of the 25 most endangered primates in the world, due to fragmentation, loss of habitat, and invasion by allochthonous Callithrix species. Using occurrence data for C. aurita from published data papers, we employed model selection and cumulative AICc weight (w+) to evaluate whether fragment size, distance to fragments with allochthonous species, altitude, connectivity, and surrounding matrices influence the occurrence of C. aurita within its distributional range. Distance to fragments with C. jacchus (w+ = 0.94) and non-vegetated areas (w+ = 0.59) correlated negatively with C. aurita occurrence. Conversely, the percentage of agriculture and pasture mosaic (w+ = 0.61) and the percentage of savanna formation (w+ = 0.59) in the surrounding matrix correlated positively with C. aurita occurrence. The findings indicate that C. aurita is isolated in forest fragments surrounded by potentially inhospitable matrices, along with the proximity of a more generalist and invasive species, thereby increasing the possibility of introgressive hybridization. The findings also highlighted the importance of landscape factors and allochthonous congeneric species for C. aurita conservation, besides indicating urgency for allochthonous species management. Finally, the approach used here can be applied to improve conservation studies of other endangered species, such as C. flaviceps, which is also endemic to the Brazilian Atlantic Forest and faces the same challenges.

Aim To clarify the incidence and risk factors of infusion-related reactions (IRRs) to trastuzumab in breast cancer patients and verify the preventive effects of glucocorticoids. Methods The electronic medical record data at the time of trastuzumab administration were retrospectively reviewed. The following exclusion criteria were applied to 229 breast cancer patients who received trastuzumab at Osaka Medical and Pharmaceutical University Hospital during the 4-year study period: missing information on human epidermal growth factor receptor type 2 (HER2) status (n=1); missing information on eosinophils (n=11); or use of treatments other than trastuzumab (n=41). Results The 176 patients included in the study received 2,320 infusions. Fifty-eight patients (33.0%) experienced IRRs, and IRRs occurred in 80 (3.4%) of the 2,320 infusions. Owing to the hierarchical structure of the data, the independence of the observed values was evaluated using the intraclass correlation coefficient. Multivariate multilevel logistic regression analysis showed that premedication with dexamethasone was effective in lowering IRR risk with trastuzumab (mg; per unit; odds ratio, OR=0.62; 95% confidence interval, 95% CI, 0.44‒0.86; p=0.005). Preoperative status (OR=34.7; 95% CI, 5.0–242.0; p<0.001) and high doses of trastuzumab (mg/kg; per unit; OR=59.6; 95% CI, 19.7–180.0; p<0.001) were independent risk factors for IRRs. Conclusion The results of this study suggest that premedication with dexamethasone has a protective effect against IRRs caused by trastuzumab in breast cancer treatment. Future studies are needed to determine the optimal dosing of dexamethasone to prevent IRRs and the impact of dexamethasone on the efficacy of trastuzumab treatment.

Primary pancreatic tumors in children are rare with an overall age-adjusted incidence of 0.018 new cases per 100,000 pediatric patients. The most prevalent histologic type is the solid pseudopapillary neoplasm followed by pancreatoblastoma. This manuscript describes relevant imaging modalities and presents consensus-based recommendations for imaging at diagnosis and follow up.

The human C14orf166 protein, also known as RTRAF, shows positive modulatory activity on the cellular RNA polymerase II enzyme. This protein is a component of the tRNA-splicing ligase complex and is involved in RNA metabolism. It also functions in the nucleo-cytoplasmic transport of RNA molecules. The C14orf166 protein has been reported to be associated with some types of cancer. It has been shown that the C14orf166 protein binds to the influenza A virus RNA polymerase PA subunit and has a stimulating effect on viral replication. In this study, candidate interactor proteins for influenza A virus PA protein were screened with a Y2H assay using HEK293 Matchmaker cDNA. The C14orf166 protein fragments in different sizes were found to interact with the PA. The three-dimensional structures of the viral PA and C14orf166 proteins interacting with the PA were generated using the I-TASSER algorithm. The interaction models between these proteins were predicted with the ClusPro protein docking algorithm and analyzed with PyMol software. The results revealed that the carboxy-terminal end of the C14orf166 protein is involved in this interaction, and it is highly possible that it binds to the carboxy-terminal of the PA protein. Although amino acid residues in the interaction area of the PA protein with the C14orf166 showed distribution from 450th to 700th position, the intense interaction region was revealed to be at amino acid positions 610 to 630.

Reply to: “COVID-19 pandemic and environment: not only air pollution”. M.Carminati et al.

It has been proposed that conservation laws might not be beneficial for accurate hydrological modeling due to errors in input (precipitation) and target (streamflow) data (particularly at the event time scale), and this might explain why deep learning models (which are not based on enforcing closure) can out-perform catchment-scale conceptual and process-based models at predicting streamflow. We test this hypothesis at the event and multi-year time scale using physics-informed (mass conserving) machine learning and find that: (1) enforcing closure in the rainfall-runoff mass balance does appear to harm the overall skill of hydrological models, (2) deep learning models learn to account for spatiotemporally variable biases in data (3) however this “closure” effect accounts for only a small fraction of the difference in predictive skill between deep learning and conceptual models.

NTM-infected CF patients may be at risk of being underdiagnosed or inappropriately treated when relying on culture and susceptibility results from non-specialized laboratories. Since this was a small study with convenience samples, a larger study needs to be carried out. If our findings are confirmed, the drivers should be elucidated for the discrepant results. Given the increasing prevalence of NTM in the population at large and not in the CF community alone[[13]](#ref-0013), elucidating any differences in testing to ensure the correct identification, including subspeciation and antimicrobial susceptibilities should be paramount

Adapting the target dataset for a pre-trained model is still challenging. These adaptation problems result from a lack of adequate transfer of traits from the source dataset; this often leads to poor model performance resulting in trial and error in selecting the best performing pre-trained model. This paper introduces the conflation of source domain low-level textural features extracted using the first layer of the pretrained model. The extracted features are compared to the conflated low-level features of the target dataset to select a higher quality target dataset for improved pre-trained model performance and adaptation. From comparing the various probability distance metrics, Kullback-Leibler is adopted to compare the samples from both domains. We experiment on three publicly available datasets and two ImageNet pre-trained models used in past studies for results comparisons. This proposed approach method yields two categories of the target samples with those with lower Kullback-Leibler values giving better accuracy, precision and recall. The samples with the lower Kullback-Leibler values give a higher margin accuracy rate of 6.21% to 7.27%, thereby leading to better model adaptation for target transfer learning datasets and tasks

We present two cases of general anesthesia in children with 18, 13 trisomy. One patient had difficulty with intubation and had to be reintubated postoperatively, another developed postoperative acute respiratory distress syndrome. The use of postoperative high-flow nasal cannula oxygen therapy to avoid reintubation is considered a feasible strategy.

The outcomes of the arterial switch operation have improved over a period of time with the elimination of coronary artery anatomy as a risk factor for operative mortality in some series. However, cumulatively, when all the series published so far are analyzed, two coronary variations, namely the single sinus coronary artery origin and intramural type, persist as risk factors for an adverse operative outcome.

There are no solid evidence from literature that compare Cox-Maze with pulmonary vein isolation technique for atrial fibrillation in the context of concomitant mitral valve surgery. While the first is perhaps more effective and linked to higher freedom form atrial fibrillation, it is more invasive compared to the pulmonary isolation.

Parsonage Turner syndrome (PTS) is a peripheral inflammatory neuropathy of unknown etiology. We present a rare case of a patient with PTS post-covid-19 BNT162b2 mRNA vaccine. Symptoms occurred fifteen days after the second dose. The patient was treated with corticosteroids, analgesics and physical rehabilitation with a partial recovery.

Insulinomas are rare functioning neuroendocrine tumors. Up to 10% of insulinomas are associated with multiple endocrine neoplasia 1 . Several non-invasive and invasive techniques are used to localize the lesion. We present a case of insulinoma presenting with seizures episode , with negative non-invasive imaging results ,diagnosed with endoscopic ultrasound.

The catastrophe of hypoxia in complex aortic surgery