Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patients was 8.5 months (range: 20 days–21 months). Half of them had positive family histories, with a shorter diagnosis lag. The most common symptoms were recurrent sinopulmonary infections (18 patients, 90%), neutropenia (14 patients, 70%), oral ulcer (13 patients, 65%), and protracted diarrhea (13 patients, 65%). Six patients had BCGitis. Six patients received hematopoietic stem cell transplantations and four of them had immune reconstructions and clinical remissions. Eighteen unique mutations in CD40L gene were identified in these 20 patients from 19 unrelated families, with 12 novel mutations. We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. These mutations reflected the heterogeneity of CD40L gene and expanded our understanding of XHIGM

Rethinking Amodal Video Segmentation from Learning Supervised Signals with Object-centric Representation

Video amodal segmentation is a particularly challenging task in computer vision, which requires to deduce the full shape of an object from the visible parts of it. Recently, some studies have achieved promising performance by using motion flow to integrate information across frames under a self-supervised setting. However, motion flow has a clear limitation by the two factors of moving cameras and object deformation. This paper presents a rethinking to previous works. We particularly leverage the supervised signals with object-centric representation in \textit{real-world scenarios}. The underlying idea is the supervision signal of the specific object and the features from different views can mutually benefit the deduction of the full mask in any specific frame. We thus propose an Efficient object-centric Representation amodal Segmentation (EoRaS). Specially, beyond solely relying on supervision signals, we design a translation module to project image features into the Bird's-Eye View (BEV), which introduces 3D information to improve current feature quality. Furthermore, we propose a multi-view fusion layer based temporal module which is equipped with a set of object slots and interacts with features from different views by attention mechanism to fulfill sufficient object representation completion. As a result, the full mask of the object can be decoded from image features updated by object slots. Extensive experiments on both real-world and synthetic benchmarks demonstrate the superiority of our proposed method, achieving state-of-the-art performance. Our code will be released at \url{https://github.com/kfan21/EoRaS}.Comment: Accepted by ICCV 202

Augmenting Large Language Model Translators via Translation Memories

Using translation memories (TMs) as prompts is a promising approach to in-context learning of machine translation models. In this work, we take a step towards prompting large language models (LLMs) with TMs and making them better translators. We find that the ability of LLMs to ``understand'' prompts is indeed helpful for making better use of TMs. Experiments show that the results of a pre-trained LLM translator can be greatly improved by using high-quality TM-based prompts. These results are even comparable to those of the state-of-the-art NMT systems which have access to large-scale in-domain bilingual data and are well tuned on the downstream tasks.Comment: Accepted to Findings of ACL 202

Functional trait divergence associated with heteromorphic leaves in a climbing fig

IntroductionPlants that display heteroblasty possess conspicuous variations in leaf morphology between their juvenile and adult phases, with certain species retaining juvenile-like leaves even in adulthood. Nevertheless, the ecological advantages of maintaining two or more distinct leaf types in heteroblastic plants at the adult stage remain unclear.MethodThe aim of this study is to examine the adaptive significance of heteroblastic leaves sampled from branches with divergent functions (sterile and fertile branches) of mature Ficus pumila individuals by comparing their morphological, anatomical, and physiological characteristics.ResultLeaves on sterile branches (LSs) exhibited a significantly larger specific leaf area, thinner palisade and spongy tissues, lower chlorophyll contents, and lower light saturation points than leaves on fertile branches (LFs). These results demonstrate that LSs are better adapted to low light environments, while LFs are well equipped to take advantages of high light conditions. However, both LFs and LSs have a low light compensation point with no significant difference between them, indicating that they start to accumulate photosynthetic products under similar light conditions. Interestingly, significant higher net photosynthetic rate was detected in LFs, showing they have higher photosynthetic capacity. Furthermore, LFs produced significant more nutrients compared to LSs, which may associate to their ability of accumulating more photosynthetic products under full light conditions and higher photosynthetic capacity.DiscussionOverall, we observed a pattern of divergence in morphological features of leaves on two functional branches. Anatomical and physiological features indicate that LFs have an advantage in varied light conditions, providing amounts of photosynthetic products to support the sexual reproduction, while LSs adapt to low light environments. Our findings provide evidence that heteroblasty facilitates F. pumila to utilize varying light environments, likely associated with its growth form as a climbing plant. This strategy allows the plant to allocate resources more effectively and optimize its overall fitness

Compound Danshen Dripping Pill Inhibits Retina Cell Apoptosis in Diabetic Rats

Scope: Diabetic retinopathy (DR) is a severe microvascular complication of diabetes. Previous clinical trials have shown that Compound Danshen Dripping Pill (CDDP) improves DR symptoms. However, the mechanism involved remains unclear.Procedures: Rats fed a high-fat diet and injected with streptozotocin (STZ) were used as an experimental type 2 diabetes rodent model. CDDP was administered to two groups of diabetic rats at 0.2 and 0.4 g/kg/day via gastric gavage for 12 weeks. After the 12 weeks of treatment, retinal function was evaluated by electroretinography (ERG). Histological staining and TdT-mediated dUTP nick-end labeling (TUNEL) assays were also performed. Retinal genome expression was determined by gene array.Results: We found that CDDP moderated ERG and histological abnormalities in diabetic rats, independent of blood glucose level. A gene array showed that CDDP changed 262 genes significantly in the diabetic retina. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis indicated that differentially expressed genes in the CDDP-treated groups were involved mainly in the apoptosis pathway. Moreover, CDDP reduced the number of TUNEL-positive cells in the diabetic retinas. CDDP prevented the reduction in Bcl-2 expression and the increase in BCL-2 associated X (Bax) and caspase-3 (Casp3) expression in diabetic rats.Conclusion: Our results suggest that CDDP exerts its neuroprotective functions by inhibiting cell apoptosis in diabetic rats

Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patients was 8.5 months (range: 20 days-21 months). Half of them had positive family histories, with a shorter diagnosis lag. The most common symptoms were recurrent sinopulmonary infections (18 patients, 90%), neutropenia (14 patients, 70%), oral ulcer (13 patients, 65%), and protracted diarrhea (13 patients, 65%). Six patients had BCGitis. Six patients received hematopoietic stem cell transplantations and four of them had immune reconstructions and clinical remissions. Eighteen unique mutations in CD40L gene were identified in these 20 patients from 19 unrelated families, with 12 novel mutations. We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. These mutations reflected the heterogeneity of CD40L gene and expanded our understanding of XHIGM

ScQ cloud quantum computation for generating Greenberger-Horne-Zeilinger states of up to 10 qubits

We introduce an online for public quantum computation platform, named as ScQ, based on a 1D array of 10-qubit superconducting processor. Single qubit rotation gates can be performed on each qubit. Controlled-NOT (CNOT) gates between nearest-neighbor sites on the 1D array of 10 qubits are available. We show online preparation and verification of Greenberger-Horne-Zeilinger (GHZ) states of up to 10 qubits by this platform, for all possible blocks of qubits in the chain. Both graphic interface and the quantum assembly language methods are presented to achieve the above tasks, which rely on a parameter scanning feature implemented on ScQ. Performance of this quantum computation platform, such as fidelities of the logic gates and details of the superconducting device, are presented