Cloning and characterization of a novel Kelch-like gene in zebrafish

Master'sMASTER OF SCIENC

Poly[diaqua­bis(μ3-1H-benzimidazole-5,6-dicarboxyl­ato-κ4 N 3:O 5,O 5′:O 6)bis­(μ2-1H,3H-benzimidazolium-5,6-dicarboxyl­ato-κ3 O 5,O 5′:O 6)digadolinium(III)]

In the title complex, [Gd2(C9H4N2O4)2(C9H5N2O4)2(H2O)2]n, two of the benzimidazole-5,6-dicarboxyl­ate ligands are pro­ton­ated at the imidazole groups. Each GdIII ion is coordinated by six O atoms and one N atom from five ligands and one water mol­ecule, displaying a distorted bicapped trigonal-prismatic geometry. The GdIII ions are linked by the carboxyl­ate groups and imidazole N atoms, forming a layer parallel to (001). These layers are further connected by O—H⋯O and N—H⋯O hydrogen bonds into a three-dimensional supra­molecular network

Online Deep Learning from Doubly-Streaming Data

This paper investigates a new online learning problem with doubly-streaming data, where the data streams are described by feature spaces that constantly evolve, with new features emerging and old features fading away. A plausible idea to deal with such data streams is to establish a relationship between the old and new feature spaces, so that an online learner can leverage the knowledge learned from the old features to better the learning performance on the new features. Unfortunately, this idea does not scale up to high-dimensional multimedia data with complex feature interplay, which suffers a tradeoff between onlineness, which biases shallow learners, and expressiveness, which requires deep models. Motivated by this, we propose a novel OLD3S paradigm, where a shared latent subspace is discovered to summarize information from the old and new feature spaces, building an intermediate feature mapping relationship. A key trait of OLD3S is to treat the model capacity as a learnable semantics, aiming to yield optimal model depth and parameters jointly in accordance with the complexity and non-linearity of the input data streams in an online fashion. Both theoretical analysis and empirical studies substantiate the viability and effectiveness of our proposed approach. The code is available online at https://github.com/X1aoLian/OLD3S

Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: A case report and review

Deletion in the Xp22.31 region is increasingly suggested to be involved in the etiology of epilepsy. Little is known regarding the genomic and clinical delineations of X-linked epilepsy in the Chinese population or the sex-stratified difference in epilepsy characteristics associated with deletions in the Xp22.31 region. In this study, we reported two siblings with a 1.69 Mb maternally inherited microdeletion at Xp22.31 involving the genes VCX3A, HDHD1, STS, VCX, VCX2, and PNPLA4 presenting with easily controlled focal epilepsy and language delay with mild ichthyosis in a Chinese family with a traceable 4-generation history of skin ichthyosis. Both brain magnetic resonance imaging results were normal, while EEG revealed epileptic abnormalities. We further performed an exhaustive literature search, documenting 25 patients with epilepsy with gene defects in Xp22.31, and summarized the epilepsy heterogeneities between sexes. Males harboring the Xp22.31 deletion mainly manifested with child-onset, easily controlled focal epilepsy accompanied by X-linked ichthyosis; the deletions were mostly X-linked recessive, with copy number variants (CNVs) in the classic region of deletion (863.38 kb–2 Mb). In contrast, epilepsy in females tended to be earlier-onset, and relatively refractory, with pathogenic CNV sizes varying over a larger range (859 kb–56.36 Mb); the alterations were infrequently inherited and almost combined with additional CNVs. A candidate region encompassing STS, HDHD1, and MIR4767 was the likely pathogenic epilepsy-associated region. This study filled in the knowledge gap regarding the genomic and clinical delineations of X-linked recessive epilepsy in the Chinese population and extends the understanding of the sex-specific characteristics of Xp22.31 deletion in regard to epilepsy

Poly[[aqua­(μ2-oxalato)(μ2-2-oxido­pyridinium-3-carboxylato)dysprosium(III)] monohydrate]

In the title complex, {[Dy(C6H4NO3)(C2O4)(H2O)]·H2O}n, the DyIII ion is coordinated by seven O atoms from two 2-oxidopyridinium-3-carboxylate ligands, two oxalate ligands and one water mol­ecule, displaying a distorted bicapped trigonal-prismatic geometry. The carboxyl­ate groups of the 2-oxidopyridinium-3-carboxylate and oxalate ligands link dysprosium metal centres, forming layers parallel to (100). These layers are further connected by inter­molecular O—H⋯O hydrogen-bonding inter­actions involving the coordin­ated water mol­ecules, forming a three-dimensional supra­molecular network. The uncoordinated water mol­ecule is involved in N—H⋯O and O—H⋯O hydrogen-bonding inter­actions within the layer

Chromosomal aberrations in pediatric patients with moderate/severe developmental delay/intellectual disability with abundant phenotypic heterogeneities: A single-center study

Background: This study aimed to examine the clinical usefulness of chromosome microarray (CMA) for selective implementation in patients with unexplained moderate or severe developmental delay/intellectual disability (DD/ID) and/or combined with different dysphonic features in the Han Chinese population. Methods: We retrospectively analyzed data on 122 pediatric patients with unexplained isolated moderate/severe DD/ID with or without autism spectrum disorders, epilepsy, dystonia, and congenital abnormalities from a single-center neurorehabilitation clinic in southern China. Results: A total of 46 probands (37.7%) had abnormal CMA results among the 122 study patients. With the exclusion of aneuploidies, uniparental disomies, and multiple homozygotes, 37 patients harbored 39 pathogenic copy number variations (pCNVs) (median [interquartile range] size: 3.57 [1.6 to 7.1] Mb; 33 deletions and 6 duplications), enriched in chromosomes 5, 7, 15, 17, and 22, with a markedly high prevalence of Angelman/Prader-Willi syndrome (24.3% [nine of 37]). Three rare deletions in the regions 5q33.2q34, 17p13.2, and 13q33.2 were reported, with specific delineation of clinical phenotypes. The frequencies of pCNVs were 18%, 33.3%, 38.89%, 41.67%, and 100% for patients with 1, 2, 3, 4, and 5 study phenotypes, respectively; patients with more concomitant abnormalities in the heart, brain, craniofacial region, and/or other organs had a higher CMA diagnostic yield and pCNV prevalence (P \u3c 0.05). Conclusions: Clinical application of CMA as a first-tier test among patients with moderate/severe DD/ID combined with congenital structural anomalies improved diagnostic yields and the quality of clinical management in this series of patients