Biomedical subjects

Shan Huang

Publications and source records attributed to Shan Huang.

8 recordsLinked to original sources

PubMed2026

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing.

BACKGROUND: Pediatric seizure disorders are clinically and genetically heterogeneous. Whole-exome sequencing has improved the detection of rare genetic variants in childhood epilepsy; however, data from pediatric populations in Southeast China remain limited. This study aimed to characterize the genetic landscape of pediatric seizure disorders in Southeast China and to evaluate the clinical diagnostic yield of whole-exome sequencing. MATERIALS AND METHODS: This retrospective observational study included 21 pediatric patients with seizure disorders who were recruited at the Fifth Hospital of Xiamen, Fujian, China, between January 2021 and June 2024. Clinical data were extracted from medical records. Whole-exome sequencing was performed on DNA extracted from peripheral blood. Sequence variants were annotated, filtered, and classified according to the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Copy-number variants were evaluated using exome-based algorithms. Descriptive statistics were used because of the limited sample size. RESULTS: WES identified three clinically relevant, likely pathogenic findings in 3 of 21 patients, corresponding to a provisional diagnostic yield of 14.3%. The remaining 62 of 65 variants were of uncertain significance (VUS). The three retained variants included a GLI3 frameshift variant (exon 2: c.90_91insCAGATGTGAGC; p.Glu31Glnfs*3) and two copy-number variants (16p13.12-16p13.11 duplication and Xp22.31 deletion) with established clinical significance. Functional analysis of all 65 variants revealed that ion channel genes and neurodevelopmental genes were the most frequently affected categories. CONCLUSION: Whole-exome sequencing identified clinically relevant genetic findings in a subset of Southeast Chinese children with seizure disorders. The novel GLI3 frameshift variant may suggest an expansion of the GLI3-associated phenotypic spectrum, but further segregation, functional validation, and larger cohort studies are needed. The high proportion of variants of uncertain significance highlights the ongoing challenges of genetic interpretation in pediatric seizure disorders.

GLI3 frameshift variant↗

PubMed2025

The mRNA export pathway licenses viral mimicry response and antitumor immunity by actively exporting nuclear retroelement transcripts.

Nuclear retroelement transcripts (RTs), which can be elicited both transcriptionally and posttranscriptionally, form double-stranded RNA (dsRNA) in cytosol to trigger the viral mimicry response (VMR) and antitumor immunity. However, the strength of the induced VMR varies tremendously across tumor types, and the underlying mechanisms remain poorly understood. Here, we demonstrate that the mRNA export pathway modulates the VMR through actively exporting nuclear RTs for cytosolic dsRNA formation after their induction. Tumor cells hijack this process for immune evasion through aberrant coactivator-associated arginine methyltransferase 1 (CARM1) expression. Mechanistically, we show that the cytoplasmic transportation of RTs by the mRNA export pathway is counteracted by the RNA exosome, which cleaves multiple transcripts within this pathway, including those encoding the essential DExD-box helicase 39A (DDX39A) and the adaptor protein ALYREF. CARM1 enhances the RNA exosome activity to attenuate the nuclear export of RTs by the mRNA export pathway through two synergistic mechanisms: (i) transcriptionally activating several RNA exosome components and (ii) posttranslationally methylating arginine 6 of the RNA exosome subunit EXOSC1, which protects it from proteasome-mediated degradation. Collectively, our study highlights the critical active regulatory role of the mRNA export pathway in transporting nuclear RTs into the cytosol for triggering the VMR and tumor immunity. Furthermore, we propose that enhancing the mRNA export pathway activity, either through CARM1 inhibition or RNA exosome modulation, could reinforce the therapeutic agent-induced VMR, thus holding the promise for overcoming tumor immune evasion and immunotherapy resistance.

Humans↗

PubMed2006

A program to improve the electronic working environment and computer hardware.

Information technology is the inevitable product of modern society and computerized medical information provides clinic workers with more timely and instant information. Therefore, computer hardware equipment is a must to promote computerized information system. Yet, there is low satisfaction level toward the arrangement of clinical computer equipment. The purpose of this program is to improve the satisfaction level and easiness to access to e- environment and computer hardware equipment at nursing stations. Results after the improvement and rearrangement of e-environment indicated that the satisfaction level of nursing staffs has been improved by 22.4% from 41.4% to 63.8% improving the accessibility, the interactions between and among staffs and patients, and the utilization of computer equipment.

Computers↗

PubMed2005

Acute histologic effects of extraesophageal reflux on vocal fold healing.

This study evaluates how extraesophageal reflux affects membranous vocal fold healing in a canine model. We created membranous vocal fold injuries in the animals and randomly assigned them to topical application of acid and pepsin at pH 2 or pH 6 or of normal saline solution every other day for 12 days. The experimental vocal folds were compared to uninjured, control vocal folds from animals painlessly sacrificed for other reasons. Hematoxylin and eosin, fibronectin, and procollagen I staining were performed for histologic analysis. The injured specimens had three times greater cellular infiltrate (p < or = .001, analysis of variance) and twice as much fibronectin and procollagen I (p < or = .001, analysis of variance) as did the specimens from the control animals. No significant differences or trends were identified for cellular infiltrate, fibronectin, or procollagen I within the injured groups (p > .05, Bonferroni t-test). Acute wound healing did not appear to be influenced by the presence of acid and pepsin at pH 2 or 6 as compared to saline solution.

Acids↗

PubMed2005

[Reoperation for postoperative constipation recurrences of Hirschsprung disease].

OBJECTIVE: To summarize the causes and treatment experiences of postoperative constipation recurrences of Hirschsprung disease. METHODS: Clinical data of 37 cases receiving operation again for postoperative constipation recurrences of Hirschsprung disease were collected. The recurrent causes, reoperation procedures and therapeutic efficacy were analyzed. RESULTS: Among 37 cases, the recurrent causes included insufficient resection of the intestine in 14 cases, co-existent intestinal neural hypogenesis in 6, gate syndrome in 5, and others in 12 cases. There was no postoperative death. Thirty-one cases (83.8%) were followed-up from 6 months to 11 years. The defecation frequency was 1-2 times per day in 15 cases, one times per two days in 7, one times per three days in 6 cases. Two cases could defecate with the help of laxative purgatives. Nobody had incontinence. CONCLUSION: The main cause of postoperative constipation recurrences of Hirschsprung disease is insufficient resection of the intestine,and reoperation can get better results.

Child↗

PubMed2004

[Noise reduction at an emergency intensive care unit of medical center in southern Taiwan].

This project was the result of numerous complaints from patients and their families about high levels of human and mechanical noise inside the emergency intensive care unit (EICU) of a major medical center in southern Taiwan. Other complaints were made by members of the medical staff, who claimed that they could not hear the alarms built into medical equipment. The project entailed a data inventory, analysis, and the identification of noise sources. Maximum mechanical noise level was measured at 79.6 dBA. After classifying noise sources as non-mechanical or mechanical, we established a list of objectives and used 13 approaches to achieve them. As a result, average reduction in mechanical noise volume was 11.72 dBA (14.47%) and in non-mechanical noise volume 10.5 dBA (14.0%). Still, we were only successful in protecting 50% of all EICU patients from noise disturbance levels according to the guidelines established in the Noise Prevention Act that is used in the United States. We therefore recommend that noise monitoring systems be added in order to increase the percentage of EICU patients who are protected from unnecessary noise.

Emergency Medical Services↗

PubMed2003

Infrared studies of carbon monoxide binding to carbon monoxide dehydrogenase/acetyl-CoA synthase from Moorella thermoacetica.

Carbon monoxide dehydrogenase/acetyl-CoA synthase (CODH/ACS) is a bifunctional enzyme that catalyzes the reversible reduction of carbon dioxide into carbon monoxide and the coupled synthesis of acetyl-CoA from the carbon monoxide produced. Exposure of CODH/ACS from Moorella thermoacetica to carbon monoxide gives rise to several infrared bands in the 2100-1900 cm(-1) spectral region that are attributed to the formation of metal-coordinated carbon monoxide species. Infrared bands attributable to M-CO are not detected in the as-isolated enzyme, suggesting that the enzyme does not contain intrinsic metal-coordinated CO ligands. A band detected at 1996 cm(-1) in the CO-flushed enzyme is assigned as arising from CO binding to a metal center in cluster A of the ACS subunit. The frequency of this band is most consistent with it arising from a terminally coordinated Ni(I) carbonyl. Multiple infrared bands at 2078, 2044, 1970, 1959, and 1901 cm(-1) are attributed to CO binding at cluster C of the CODH subunit. All infrared bands attributed to metal carbonyls decay in a time-dependent fashion as CO(2) appears in the solution. These observations are consistent with the enzyme-catalyzed oxidation of carbon monoxide until it is completely depleted from solution during the course of the experiments.

Acetate-CoA Ligase↗

PubMed2002

Infrared studies of the CO-inhibited form of the Fe-only hydrogenase from Clostridium pasteurianum I: examination of its light sensitivity at cryogenic temperatures.

Infrared spectroscopy has been used to examine the oxidized and CO-inhibited forms of Fe-only hydrogenase I from Clostridium pasteurianum. For the oxidized enzyme, five bands are detected in the infrared spectral region between 2100 and 1800 cm(-1). The pattern of infrared bands is consistent with the presence of two terminally coordinated carbon monoxide molecules, two terminally coordinated cyanide molecules, and one bridging carbon monoxide molecule, ligated to the Fe atoms of the active site [2Fe] subcluster. Infrared spectra of the carbon monoxide-inhibited state, prepared using both natural abundance CO and 13CO, indicate that the two terminally coordinated CO ligands that are intrinsic to the enzyme are coordinated to different Fe atoms of the active site [2Fe] subcluster. Irradiation of the CO-inhibited state at cryogenic temperatures gives rise to two species with dramatically different infrared spectra. The first species has an infrared spectrum identical to the spectrum of the oxidized enzyme, and can be assigned as arising from the photolysis of the exogenous CO from the active site. This species, which has been observed in X-ray crystallographic measurements [Lemon, B. J., and Peters, J. W. (2000) J. Am. Chem. Soc. 122, 3793], decays above 150 K. The second light-induced species decays above 80 K and is characterized by loss of the infrared band associated with the Fe bridging CO at 1809 cm(-1). Potential models for the second photolysis event are discussed.

Carbon Monoxide↗