Enhancing Semantic and Structure Modeling of Diseases for Diagnosis Prediction.

Electronic Health Records (EHRs) are valuable healthcare data, aiding researchers and doctors in improving diagnosis accuracy. Researchers have developed several predictive models by learning disease representations to forecast the potential diagnosis that patients may receive. However, existing studies usually ignore the fine-grained semantic and structure information in EHRs (e.

Development and validation of a nomogram model based on blood-based genomic mutation signature for predicting the risk of brain metastases in non-small cell lung cancer.

Purpose: Available research indicates that the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway is significantly correlated with lung cancer brain metastasis (BM). This study established a clinical predictive model for assessing the risk of BM based on the mTORC1-related single nucleotide polymorphisms (SNPs).

Methods: In this single-center retrospective study, 395 patients with non-small cell lung cancer were included.

Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family.

Purpose: Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant genetic disease associated with mutations in the GATA3 gene, which encodes GATA3 that plays essential roles in vertebrate development. This study aimed to identify and report the pathogenic mutation in GATA3 in a Chinese family diagnosed with HDR syndrome and determine its functional impacts in vivo.

Subjects And Methods: The clinical features of a 25-year-old male patient with HDR syndrome and his parents were collected.

Impact of distant metastasis on overall survival and cancer specific survival of elderly patients with differentiated thyroid cancer.

Distant metastases are common in most elderly patients, because elderly patients are diagnosed with advanced thyroid cancer due to delayed diagnosis. There is still few specific real-world data regarding prognosis in the elderly with differentiated thyroid cancer (DTC). The purpose of this study is to evaluate the prognostic factors and survival rate of elderly DTC patients with metastasis.

The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome.

Purpose: Werner syndrome (WS) is a rare autosomal recessive genetic disease caused by mutations in the WRN gene, and it is characterized by multiple manifestations corresponding to early-onset aging. This study reports the case of a WS patient with a novel WRN mutation.

Patient And Methods: A 36-year-old male patient with WS was evaluated after approval from the local ethics committee.

Value of machine learning algorithms for predicting diabetes risk: A subset analysis from a real-world retrospective cohort study.

Aims/introduction: To compare the application value of different machine learning (ML) algorithms for diabetes risk prediction.

Materials And Methods: This is a 3-year retrospective cohort study with a total of 3,687 participants being included in the data analysis. Modeling variable screening and predictive model building were carried out using logistic regression (LR) analysis and 10-fold cross-validation, respectively.