Dentoskeletal characteristics of non-syndromic pierre robin sequence and isolated incomplete cleft palate children: a retrospective case control study.

Background: Pierre Robin sequence (PRS) is characterized by micrognathia, glossoptosis, and upper airway obstruction. This study aimed to compare the dentoskeletal characteristics of children diagnosed with non-syndromic PRS and those with cleft palate.

Methods: This study was conducted on the non-syndromic PRS patients in the database of our hospital.

Single-nuclear transcriptomics of lymphedema-associated adipose reveals a pro-lymphangiogenic stromal cell population.

Chronic lymphedema is a progressive, disfiguring disease that results from dysfunction of the lymphatic vasculature, causing distal accumulation of interstitial fluid, localized development of tissue edema, and expansion of subcutaneous adipose tissue (SAT). As the molecular mechanisms governing SAT remodeling in this disease are unclear, we performed single-nucleus RNA sequencing on paired control and affected SAT biopsies from patients with unilateral lymphedema. Lymphedema samples were characterized by expansion of SAA adipocytes, pro-adipogenic stem cells, and proliferation of lymphatic capillaries.

Pathomics-based machine learning models for predicting pathological complete response and prognosis in locally advanced rectal cancer patients post-neoadjuvant chemoradiotherapy: insights from two independent institutional studies.

Background: Accurate prediction of pathological complete response (pCR) and disease-free survival (DFS) in locally advanced rectal cancer (LARC) patients undergoing neoadjuvant chemoradiotherapy (NCRT) is essential for formulating effective treatment plans. This study aimed to construct and validate the machine learning (ML) models to predict pCR and DFS using pathomics.

Method: A retrospective analysis was conducted on 294 patients who received NCRT from two independent institutions.

[Single nucleotide polymorphism heritability of non-syndromic cleft lip with or without cleft palate in Chinese population].

Objective: To delve into the intricate relationship between common genetic variations across the entire genome and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P).

Methods: Utilizing summary statistics data from genome-wide association studies (GWAS), a thorough investigation to evaluate the impact of common variations on the genome were undertook. This involved assessing single nucleotide polymorphism (SNP) heritability across the entire genome, as well as within specific genomic regions.

Approach to the Patient: Diagnosis and Treatment with Growth Hormone of Turner Syndrome and its Variants.

Context: Turner syndrome (TS) is characterized by a partial or complete absence of the second X chromosome in female. Here, patients with Xp deletion involving SHOX haploinsufficiency caused by unbalanced X-autosome translocations were discussed and considered as TS variants.

Objective: This work aimed to expand the current knowledge of TS and unbalanced X-autosome translocations and to suggest the definition, clinical characteristics, diagnosis workflow and growth hormone (GH) treatment strategy of TS and its variants.

A novel mutation in the ATP7B gene causing hepatolenticular degeneration in a Chinese family: A case report.

Introduction: Hepatolenticular degeneration (Wilson disease) is an autosomal recessive monogenic disorder caused by mutations in the ATPase copper transporting beta (ATP7B) gene located on human chromosome 13. This gene encodes a copper-transporting P-type ATPase (ATP7B). Recent studies have revealed that the ATP7B gene is predominantly affected by a few hotspot mutations, with the His1069Gln mutation in exon 14 accounting for 50 to 80% of cases.

[Gene-gene/gene-environment interaction of transforming growth factor-β signaling pathway and the risk of non-syndromic oral clefts].

Objective: To explore the association between polymorphisms of transforming growth factor-β (TGF-β) signaling pathway and non-syndromic cleft lip with or without cleft palate (NSCL/P) among Asian populations, while considering gene-gene interaction and gene-environment interaction.

Methods: A total of 1 038 Asian NSCL/P case-parent trios were ascertained from an international consortium, which conducted a genome-wide association study using a case-parent trio design to investigate the genes affec-ting risk to NSCL/P. After stringent quality control measures, 343 single nucleotide polymorphism (SNP) spanning across 10 pivotal genes in the TGF-β signaling pathway were selected from the original genome-wide association study(GWAS) dataset for further analysis.

Streptomyces chengbuensis sp. nov., isolated from the rhizosphere soil of Cathaya argyrophylla.

Strain HUAS CB01 was a novel actinobacterium which was isolated from the rhizosphere soil of Cathaya argyrophylla, Chengbu Miao Autonomous County of Hunan Province, China. The strain formed well-growing substrate mycelium, diffusible pigments, and aerial mycelium, and differentiated into spiral-type spore chains composed of smooth-surface rod-shaped spores. Phylogenetic analysis on account of 16 S rRNA gene sequence demonstrated the strain HUAS CB01 was a member of the genus Streptomyces and had a close relationship with Streptomyces wuyuanensis CGMCC 4.

sp. nov., a novel endophytic actinomycete isolated from the leaves of .

Strain HUAS 3-15 was isolated from the leaves of collected from Chenzhou, Hunan Province, PR China. The main fatty acids (>5.0 %) of the strain were -C, C, C ω9, C, summed feature 5 (C ω6,9/C ante), C and C.

Adaptable cascaded registration for personalized maxilla completion and cleft defect volume estimation.

Background: Cone-beam computed tomography (CBCT) images provide high-resolution insights into the underlying craniofacial anomaly in patients with cleft lip and palate (CLP), requiring non-negligible annotation costs to measure the cleft defect for the guidance of the clinical secondary alveolar bone graft procedures. Considering the cumbersome volumetric image acquisition, there is a lack of paired CLP CBCTs and normal CBCTs for learning-based anatomical structure restoration models. Nowadays, the registration-based method relieves the annotation burden, though one-shot registration and the regular mask are limited to handling fine-grained shape variations and harmony between restored bony tissues and the defected maxilla.

Circ_0082374 Promotes the Tumorigenesis and Suppresses Ferroptosis in Non-small Cell Lung Cancer by Up-Regulating GPX4 Through Sequestering miR-491-5p.

Circular RNAs (circRNAs) have been identified to be dysregulated in non-small cell lung cancer (NSCLC) and implicated in the progression of this cancer. Here, this work aimed to investigate the role and mechanism of circ_0082374 on NSCLC progression. Levels of circ_0082374, miR-491-5p, GPX4 (glutathione peroxidase 4) and epithelial-mesenchymal transition (EMT)-related proteins were examined by quantitative real-time PCR or western blotting, respectively.

Failure to thrive in pediatric patients with congenital heart disease: a cross-sectional study of 13,256 patients.

Background: The prevalence and risk factors for failure to thrive (FTT) in pediatric patients with congenital heart disease (CHD) remain ambiguous. We aimed to investigate the prevalence, growth profiles, risk factors, and vulnerable subtypes of CHD associated with FTT in pediatric patients with CHD.

Methods: This was a cross-sectional study based on Chinese Database for Congenital Heart Surgery.

Detecting Gene-Gene Interaction among DNA Repair Genes in Chinese non-Syndromic Cleft lip with or Without Palate Trios.

Objective: The objective of this study is to investigate the gene-gene interactions associated with NSCL/P among DNA repair genes.

Design: This study included 806 NSCL/P case-parent trios from China. Quality control process was conducted for genotyped single nucleotide polymorphisms (SNPs) located in six DNA repair genes (, , , , and ).

Brain white matter alterations in young adult male patients with childhood-onset growth hormone deficiency: a diffusion tensor imaging study.

Purpose: This study aimed to detect white matter changes and different effects of thyroid hormone on the white matter integrity in young adult male patients with childhood-onset growth hormone deficiency (CO-GHD), compared with healthy people.

Methods: Magnetic resonance imaging (structural imaging and diffusion tensor imaging) was performed in 17 young adult male patients with CO-GHD and 17 healthy male controls. The white matter volume, mean diffusivity (MD) values and fractional anisotropy (FA) values were quantified and compared between two groups (CO-GHD group vs.

Evaluation of growth status of children with non-syndromic oral clefts.

To assess the growth status of children with non-syndromic oral clefts (NSOC) and explore potential influencing factors. The data of NSOC children aged ≤5 years hospitalized between December 2018 and June 2020 were retrieved and evaluated, including their height, weight, NSOC subtypes and demographic characteristics before reparative surgeries. The growth status of the children was assessed using height-for-age Z-score (HAZ), weight-for-age Z-score (WAZ) and weight-for-height Z-score (WHZ).

Machine learning in 3D auto-filling alveolar cleft of CT images to assess the influence of alveolar bone grafting on the development of maxilla.

Background: Machine learning based auto-segmentation of 3D images has been developed rapidly in recent years. However, the application of this new method in the research of patients with unilateral cleft lip and palate (UCLP) is very limited. In this study, a machine learning algorithm utilizing 3D U-net was used to automatically segment the maxilla, fill the cleft and evaluate the alveolar bone graft in UCLP patients.

Reward-Adaptive Reinforcement Learning: Dynamic Policy Gradient Optimization for Bipedal Locomotion.

Controlling a non-statically bipedal robot is challenging due to the complex dynamics and multi-criterion optimization involved. Recent works have demonstrated the effectiveness of deep reinforcement learning (DRL) for simulation and physical robots. In these methods, the rewards from different criteria are normally summed to learn a scalar function.

Distinct community assembly and co-existence of arbuscular mycorrhizal fungi and diazotrophs across large-scale soil fertility to improve functions in alfalfa cultivation systems.

Unravelling the community assembly processes of arbuscular mycorrhizal fungi (AMF) and diazotrophs as well as their co-existence under different soil fertility environments are vital to develop a better understanding of agroecosystem functions, which is a crucial yet poorly understood topic. We examined the soils from 99 typical alfalfa cultivation systems to formulate a comprehensive picture of AMF and diazotrophic community and presented the first simultaneous investigation of the assembly processes and their co-existence. The distributions of both AMF and diazotrophic communities were significantly (p < 0.

Cognitive bias toward the Internet: The causes of adolescents' Internet addiction under parents' self-affirmation consciousness.

The Internet plays a crucial part in the adolescent life. However, as a product of modernization, the Internet has brought a lifestyle different from that of our parents who tend to regard excessive exposure to the Internet as a manifestation of the adolescent Internet addiction. The cognitive bias against the Internet seem to have been arisen among the parents.