Publications by authors named "Chen Ying-Chuan"

Background: Rickets is a growth disorder that imposes a global health burden and causes disability in affected children. However, issues related to the clinical epidemiology and mortality risk of nutritional versus hereditary rickets have not been fully investigated in large population studies, particularly in Asia.

Purpose: This study aimed to investigate the nationwide incidence, demographic characteristics, and mortality-related risk factors of pediatric rickets stratified by nutritional and hereditary subtypes.

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Central precocious puberty (CPP) is characterized by the early onset of secondary sexual characteristics caused by premature activation of the hypothalamic-pituitary-gonadal axis. CPP can result in short stature, reproductive health complications, and psychosocial challenges. The rising prevalence of CPP underscores the urgency of investigating the genetic and dietary factors that influence its development to reduce long-term health and developmental effects.

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Objective: Deep brain stimulation offers a unique opportunity to record neural activity of the basal ganglia. While much work in dystonia has focused on the globus pallidus internus, expanding research to investigate subthalamic nucleus (STN) activity in various dystonia types is critical to provide a comprehensive understanding of dystonia pathophysiology.

Methods: STN and cortex activity were recorded from 17 patients with cervical dystonia (CD), 19 with Meige syndrome, and 9 with generalized dystonia (GD) during the lead externalized period.

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Article Synopsis
  • - A 45-year-old male with familial hypocalciuric hypercalcemia (FHH) showed significant improvement in hypercalcemia and parathyroid hormone levels after treatment with cinacalcet.
  • - Genetic analysis revealed a novel heterozygous missense mutation in the calcium-sensing receptor (CASR) gene, which was found to decrease the protein's binding energy to calcium and destabilize it.
  • - Functional studies confirmed that the mutation impaired the calcium response in cells, but the effects could be reversed with calcimimetics, indicating potential treatment options for patients with similar mutations.
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Background: Glioblastoma (GBM) is notorious for the aggressive behaviors and easily results in chemo-resistance. Studies have shown that the use of herbal medicines as treatments for GBM as limited by the blood-brain barrier (BBB) and glioma stem cells.

Purpose: The aim of this study was to investigate the relationship between GBM suppression and α-terpineol, the monoterpenoid alcohol derived from Eucalyptus glubulus and Pinus merkusii.

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In early-stage colorectal cancer (CRC), AQP8, GUCA2B, and SPIB were important suppressor genes and frequently co-expressed. However, the underlying co-regulation effect remains unknown and need to be elucidated. We aimed to investigate the co-regulatory network of AQP8, GUCA2B, and SPIB in CRC using in vitro and in silico methods.

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Background: Hearing loss is a global health issue and its etiopathologies involve complex molecular pathways. The ubiquitin-proteasome system has been reported to be associated with cochlear development and hearing loss. The gene related to anergy in lymphocytes ( GRAIL ), as an E3 ubiquitin ligase, has not, as yet, been examined in aging-related and noise-induced hearing loss mice models.

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Introduction: Hypothyroidism is a rare and possible cause of hyponatremia. However, the clinical epidemiology and risk of mortality (ROM) when they coexist still remain elusive.

Objectives: We assessed the epidemiology and ROM among index patients with coexisting hypothyroidism and hyponatremia via a national population database.

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Acute lung injury (ALI) is characterised by severe pulmonary inflammation, alveolar-capillary barrier disruption, and pulmonary oedema. Therefore, establishing effective therapeutic targets for ALI prevention is crucial. The present study reports a novel function of RNF128 in regulating LPS-induced ALI.

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Glioblastoma is notorious for its rapid progression and neovascularization. In this study, it was found that KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2) stimulated vasculogenic factor expression and induced human umbilical vein endothelial cell (HUVEC) proliferation. The NLRP3 inflammasome and autophagy activation via hypoxic inducible factor 1 alpha (HIF-1α) and mitochondrial reactive oxygen species (ROS) production was also confirmed.

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Background: Deep brain stimulation (DBS) of the nucleus basalis of Meynert (NBM) has shown potential for the treatment of mild-to-moderate Alzheimer's disease (AD). However, there is little evidence of whether NBM-DBS can improve cognitive functioning in patients with advanced AD. In addition, the mechanisms underlying the modulation of brain networks remain unclear.

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There are many documented sex differences in the clinical course, symptom expression profile, and treatment response of Parkinson's disease, creating additional challenges for patient management. Although subthalamic nucleus deep brain stimulation is an established therapy for Parkinson's disease, the effects of sex on treatment outcome are still unclear. The aim of this retrospective observational study, was to examine sex differences in motor symptoms, non-motor symptoms, and quality of life after subthalamic nucleus deep brain stimulation.

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Background: Peripheral intravenous catheterization (PIVC) is pivotal to pediatric medical care; however, it is a challenging technique for pediatricians, and the parameters affecting successful pediatric PIVC establishment have not been fully investigated.

Methods: This prospective observational study collected data from pediatric patients aged less than 18 years who required PIVC. The participants were categorized into five groups for subgroup analysis: newborn, infant, toddler, pre-school, and student (children and adolescent).

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Mutations in the Kelch-like 3 (KLHL3) gene are the most common cause of inherited pseudohypoaldosteronism type II (PHAII) featuring thiazide-sensitive hypertension and hyperkalemic metabolic acidosis. Although Klhl3 knock-in (KI) mice carrying a missense mutation in the Kelch repeat domain have been reported, nonsense KLHL3 mutations in the same domain that cause PHAII have not been fully investigated in vivo. We generated and analyzed Klhl3 KI mice harboring a nonsense W523X mutation (corresponding to the human KLHL3 W470X mutation).

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In this report, 19 boron-containing depsipeptides were synthesized via microwave-assisted Passerini three-component reaction (P-3CR) in an aqueous environment. The linker-free DAHMI fluorescent tagging approach was used on selected boron-containing compounds to study the relationship between their structures and their level of cellular uptake of HEK293 cells. The biological data retrieved from the DAHMI experiments indicated that while the structures of tested compounds may be highly similar, their bio-distribution profile could be vastly distinctive.

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Biopsies play an important role in the diagnosis of intracranial lesions, and robot-assisted procedures are increasingly common in neurosurgery centers. This research investigates the diagnoses, complications, and technology yield of 700 robotic frameless intracranial stereotactic biopsies conducted with the Remebot system. This research considered 700 robotic biopsies performed between 2016 and 2020 by surgeons from the Department of Functional Neurosurgery in Beijing's Tiantan Hospital.

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In obese adults, nonalcoholic fatty liver disease (NAFLD) is accompanied by multiple metabolic dysfunctions. Although upregulated hepatic fatty acid synthesis has been identified as a crucial mediator of NAFLD development, the underlying mechanisms are yet to be elucidated. In this study, we reported upregulated expression of gene related to anergy in lymphocytes (GRAIL) in the livers of humans and mice with hepatic steatosis.

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Background: Anterior thalamic nuclei (ATN) deep brain stimulation (DBS) is an effective method of controlling epilepsy, especially temporal lobe epilepsy. Mossy fiber sprouting (MFS) plays an indispensable role in the pathogenesis and progression of epilepsy, but the effect of ATN-DBS on MFS in the chronic stage of epilepsy and the potential underlying mechanisms are unknown. This study aimed to investigate the effect of ATN-DBS on MFS, as well as potential signaling pathways by a kainic acid (KA)-induced epileptic model.

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The activation of the Notch pathway induces glioblastoma (GBM) development. Since KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2) is involved in the Notch pathway, the detailed mechanism is still undetermined. The Cancer Genome Atlas (TCGA) and Chinese Glioma Genome Atlas (CGGA) databases revealed that KDELC2 mRNA was associated with oncologic factors of GBM.

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Objective: We focused on a rare gene mutation causing dystonia in two siblings who received globus pallidus internus deep brain stimulation (GPi-DBS). The aim was to characterize the relationship between neuronal activity patterns and clinical syndromes.

Methods: Whole exome sequencing was applied to identify the TWNK (previous symbol C10orf2) mutation; Two siblings with TWNK mutation presented as generalized dystonia with rigidity and bradykinesia; four other sporadic generalized dystonia patients underwent GPi-DBS and local field potentials (LFPs) were recorded.

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Deep brain stimulation of the anterior nucleus of the thalamus (ANT-DBS) has been shown to be effective and safe in the long-term treatment of refractory epilepsy. However, the mechanisms by which ANT-DBS controls epilepsy at the gene expression level (e.g.

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Introduction: Previous studies found subthalamic nucleus deep brain stimulation (STN-DBS) has clinical effect on Parkinson's disease, dystonia, and obsessive compulsive disorder. It is noteworthy that only a few studies report the STN-DBS for Tourette's syndrome (TS). Globus pallidus interna (GPi)-DBS is the one of the most common targets for TS.

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Objectives: Deep brain stimulation (DBS) and stereo-electroencephalography (SEEG) electrode implantation are the most important and frequent manipulations in nonhuman primates (NHP) neuromodulation research. However, traditional methods tend to be arduous and inaccurate.

Materials And Methods: Twelve adult male rhesus monkeys were selected for the study, with six subthalamic nucleus (STN) DBS, six anterior nucleus of the thalamus (ANT) DBS and six hippocampus-SEEG (Hippo-SEEG) electrodes implantation.

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Multiple organ dysfunction caused by hyperinflammation remains the major cause of mortality during sepsis. Excessive M1-macrophage activation leads to systemic inflammatory responses. Gene related to anergy in lymphocytes (Grail) is regarded as an important regulator of T cells that functions by diminishing cytokine production.

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