Publications by authors named "Yajie Su"
Article Synopsis
- - The study focuses on developing a machine-learning model to predict dietary phenylalanine (Phe) tolerance in children with hyperphenylalaninemia (HPA), which can streamline dietary adjustments for clinicians and parents over a decade post-diagnosis.
- - Researchers collected extensive data, including genotypes, metabolic profiles, and blood Phe levels from 204 children, utilizing a predictive model trained on known relationships to create a classification tool.
- - The final model demonstrated strong predictive performance with high sensitivity and specificity scores, providing a valuable tool for managing dietary Phe intake based on individual genetic and metabolic profiles.
Background: A low-phenylalanine (Phe) diet affects the metabolism and diversity of gut microbial communities in children with phenylketonuria (PKU). Our study examined gut microbiota characteristics and metabolic pathways, and their correlations with clinical phenotypes in a high-incidence population.
Methods: We assessed clinical phenotypes and gut microbiota by 16S ribosomal RNA (rRNA) sequencing, and performed a correlation analysis between phenotype and gut microbiota in a PKU group (n=11) and a healthy group (n=11).
MEGDEL syndrome and -associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in and a mutation in .
View Article and Find Full Text PDFObjectives: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants.
Design: In this prospective study, samples from critically ill infants were analyzed using both proband-only clinical exome sequencing and trio-rapid genome sequencing (proband and biological parents). The study occurred between April 2019 and December 2019.
Article Synopsis
- This study investigates the clinical and genetic characteristics, drug use, and neuropsychiatric conditions in infants diagnosed with tuberous sclerosis complex (TSC) at a neonatal intensive care unit (NICU) to understand the impact of early screening.* -
- It involved 42 infants with TSC confirmed by genetic testing (TSC1 and TSC2), highlighting common symptoms at diagnosis such as cortical tubers and skin macules, along with a significant increase in epilepsy and cardiac issues over the year.* -
- The findings suggest that early diagnosis allows for timely treatment of epilepsy, which can minimize the risk of neurological problems, even though no strong link was found between mutation types and their clinical outcomes.*
Background: Neonatal hyperphenylalaninemia (HPA) screening did not begin until 2009 in the Uygur population because of poor medical and economic conditions. This study intended to investigate HPA incidence rate and characterize mutation spectrum of phenylalanine hydroxylase () gene within the Uygur population.
Methods: Cross-sectional data of National Direct Reporting System database from 2009 to 2016 were used to calculate incidence rate.
Article Synopsis
- Tetrahydrobiopterin (BH) deficiency is an autosomal recessive disorder stemming from enzyme deficiency, leading to symptoms like microcephaly, severe ataxia, and seizures; this study focuses on the first identified case in the Uygur population of China.* -
- Diagnostic methods included tandem mass spectrometry and gene sequencing; results showed altered urinary levels of neopterin and biopterin, reduced DHPR activity, and identified a homozygous mutation in the QDPR gene.* -
- This case highlights the need for increased awareness of BH deficiency in patients with neurological issues, and the benefits of next-generation sequencing in identifying mutations linked to hereditary conditions.*
[Evaluation of the value of ultrasound-guided core needle biopsy in the diagnosis of breast lesions].
Zhonghua Zhong Liu Za Zhi
June 2010
Objective: To investigate the accuracy, consistency and related affecting factors in pathological results of breast lesions diagnosed by ultrasound-guided core needle biopsy (CNB) and conventional excision histopathology.
Methods: The clinical data of 177 consecutive cases of breast lesions examined by ultrasound-guided CNB and subsequently excised were reviewed from Jan. 2003 to Nov.