Delving into the Latest Updates on Quanzhou Maternal and Child Health Hospital with Synapse

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Nervous System Diseases

Congenital Disorders

Immune System Diseases

Small molecule drug

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Disease Domain	Count

Immune System Diseases	1
Infectious Diseases	1
Nervous System Diseases	1
Neoplasms	1

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Small molecule drug	1

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APP x DYRK1A x α-synuclein	1

Background:TBL1XR1, also known as IRA1 or TBLR1, encodes a protein that is localized in the nucleus and is expressed in most tissues. TBL1XR1 binds to histones H2B and H4 in vitro and functions in nuclear receptor-mediated transcription. TBL1XR1 is also involved in the regulation of the Wnt–β-catenin signaling pathway. Mutations in the TBL1XR1 gene impair the Wnt–β-catenin signaling pathway’s ability to recruit Wnt-responsive element chromatin, affecting brain development. Mutations in this gene cause various clinical phenotypes, including Pierpont syndrome, autism spectrum disorder, speech and motor delays, mental retardation, facial dysmorphism, hypotonia, microcephaly, and hearing impairment.Case Summary:A 5-month-old female child was admitted with “episodic limb tremors for more than 1 month.” At the time of admission, the child had recurrent episodes of limb tremors with motor retardation and a partially atypical and hypsarrhythmic video electroencephalogram. It was determined that a heterozygous mutation in the TBL1XR1 gene caused West syndrome and global developmental delay. Recurrent episodes persisted for 6 months following oral treatment with topiramate; the addition of oral treatment with vigabatrin did not show any significant improvement, and the disease continued to recur. The child continued to have recurrent episodes of limb tremors at follow-up until 1 year and 3 months of age. Additionally, she developed poor eye contact and a poor response to name-calling.Conclusion:We report the case of a child with West syndrome and a global developmental delay caused by a heterozygous mutation in the TBL1XR1 gene. This study adds to our understanding of the clinical phenotype of TBL1XR1 mutations and provides a realistic and reliable basis for clinicians.

Zhongguo Fuyou Baojian

Analysis of SLC25A13 gene mutation spectrum in children with citrin deficiency in Quanzhou area

Author: Zheng, Zhen-zhu ; Peng, Wei-lin ; Lin, Yi-ming ; Fu, Qing-liu ; Lin, Wei-hua ; Su, Run

Objective To understand the SLC25A13 gene mutation spectrum of children with citrin deficiency in Quanzhou area.Methods From Jan. 1, 2014 to Nov. 1, 2021, 576, 601 newborns were screened for hitelin protein deficiency by high performance liquid chromatog.-tandem mass spectrometry.Neonatal or infancy-onset neonatal intrahepatic cholestasis (NICCD) was the most important pediatric phenotype.SLC25A13 pathogenic gene mutations were analyzed by MassArray technol., second-generation sequencing and Sanger sequencing to find possible pathogenic mutation sites, the gene mutation spectrum and hot spot mutation of SLC25A13 in Quanzhou area were analyzed.Results A total of 7 mutations were found in 20 children with NICCD, including c.851_854delGTAT (42.1%), IVS6 +5G > A (26.3%), c.1638_1660dup (13.2%), IVS16ins3kb (10.5%), c.1095delT (2.6%), c.1399C > T (2.6%), IVS6-11A > G (2.6%), the hot spot mutations were c.851_854delGTAT, IVS6 +5G > A, c.1638_1660dup, IVS16ins3kb, accounting for 92.1%, of which IVS6-11A > G was a new mutation.A total of 10 genotypes were found, of which the proportion of genotype c.851_854delGTAT/IVS6 +5G > A was the highest, accounting for 36.8.Conclusion By analyzing the gene results of 20 children with hitelin protein deficiency in Quanzhou area, the gene mutation spectrum of SLC25A13 pathogenic genes in Quanzhou area was studied, and the hot spot mutations were sorted out.

BMC Medical Informatics and Decision Making

Transfer learning-enabled outcome prediction for guiding CRRT treatment of the pediatric patients with sepsis

Article

Author: Wang, Rui-Quan ; Chen, Dong-Mei ; Li, Xiao-Qing ; Wu, Lian-Qiang

Continuous renal replacement therapy (CRRT) is a life-saving procedure for sepsis but the benefit of CRRT varies and prediction of clinical outcomes is valuable in efficient treatment planning. This study aimed to use machine learning (ML) models trained using MIMIC III data for identifying sepsis patients who would benefit from CRRT. We first selected patients with sepsis and CRRT in the ICU setting and their gender, and an array of routine lab results were included as features to train machine learning models using 30-day mortality as the primary outcome. A total of 4161 patients were included for analysis, among whom there were 1342 deaths within 30 days. Without data augmentation, extreme gradient boosting (XGBoost) showed an accuracy of 64.2% with AUC-ROC of 0.61. Data augmentation using a conditional generative adversarial neural network (c-GAN) resulted in a significantly improved accuracy (82%) and ROC-AUC (0.78%). To enable prediction on pediatric patients, we adopted transfer learning approaches, where the weights of all but the last hidden layer were fixed, followed by fine-tuning of the weights of the last hidden layer using pediatric data of 200 patients as the inputs. A significant improvement was observed using the transfer learning approach (AUCROC = 0.76) compared to direct training on the pediatric cohort (AUCROC = 0.62). Through this transfer-learning-facilitated patient outcome prediction, our study showed that ML can aid in clinical decision-making by predicting patient responses to CRRT for managing pediatric sepsis.

100 Deals associated with Quanzhou Maternal and Child Health Hospital

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100 Translational Medicine associated with Quanzhou Maternal and Child Health Hospital

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Pipeline

Pipeline Snapshot as of 02 Feb 2025

The statistics for drugs in the Pipeline is the current organization and its subsidiaries are counted as organizations,Early Phase 1 is incorporated into Phase 1, Phase 1/2 is incorporated into phase 2, and phase 2/3 is incorporated into phase 3

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