Using Image Recognition to Process Unbalanced Data in Genetic Diseases From Biobanks.

With precision medicine as the goal, the human biobank of each country should be analyzed to determine the complete research results related to genetic diseases. In addition, with the increase in medical imaging data, automatic image processing with image recognition has been widely studied and applied in biomedicine. However, case-control data imbalance often occurs in human biobanks, which is usually solved by the statistical method SAIGE. Due to the huge amount of genetic data in human biobanks, the direct use of the SAIGE method often faces the problem of insufficient computer memory to support calculations and excessive calculation time. The other method is to use sampling to adjust the data to balance the case-control ratio, which is called Synthetic Minority Oversampling Technique (SMOTE). Our study employed the Manhattan plot and genetic disease information from the Taiwan Biobank to adjust the imbalance in the case-control ratio by SMOTE, called "TW-SMOTE." We further used a deep learning image recognition system to identify the TW-SMOTE. We found that TW-SMOTE can achieve the same results as that of SAIGE and the UK Biobank (UKB). The processing of the technical data can be equivalent to the use of data plots with a relatively large UKB sample size and achieve the same effect as that of SAIGE in addressing data imbalance.

Expert panel's guideline on cervicogenic headache: The Chinese Association for the Study of Pain recommendation.

Cervicogenic headache (CEH) has been recognized as a unique category of headache that can be difficult to diagnose and treat. In China, CEH patients are managed by many different specialties, and the treatment plans remain controversial. Therefore, there is a great need for comprehensive evidence-based Chinese experts' recommendations for the management of CEH. The Chinese Association for the Study of Pain asked an expert panel to develop recommendations for a series of questions that are essential for daily clinical management of patients with CEH. A group of multidisciplinary Chinese Association for the Study of Pain experts identified the clinically relevant topics in CEH. A systematic review of the literature was performed, and evidence supporting the benefits and harms for the management of CEH was summarized. Twenty-four recommendations were finally developed through expert consensus voting for evidence quality and recommendation strength. We hope this guideline provides direction for clinicians and patients making treatment decisions for the management of CEH.

CircRNA circ-IQGAP1 Knockdown Alleviates Interleukin-1ß-Induced Osteoarthritis Progression via Targeting miR-671-5p/TCF4.

OBJECTIVE: To explore the function of circular RNA IQ motif-containing GTPase-activating protein 1 (circ-IQGAP1) in interleukin (IL)-1ß-induced osteoarthritis (OA) model and to explore whether circ-IQGAP1 can modulate microRNA-671-5p (miR-671-5p) and transcription factor 4 (TCF4) to regulate chondrocyte apoptosis, inflammatory injury, and extracellular matrix degradation. METHODS: The cartilage tissues were collected from 32 OA patients or normal subjects. Human chondrocyte CHON-001 cells were challenged via different doses of IL-1ß for 24 hours. CHON-001 cells were transfected with circ-IQGAP1 overexpression vector, TCF4 overexpression vector, small interfering RNA (siRNA) for circ-IQGAP1, miR-671-5p mimic, miR-671-5p inhibitor or corresponding negative controls. Circ-IQGAP1, miR-671-5p and TCF4 abundances in cartilage tissues or CHON-001 cells were examined via quantitative reverse transcription polymerase chain reaction (qRT-PCR) or western blot. Cell viability was investigated by 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide (MTT). Cell apoptosis was measured by flow cytometry. The inflammatory injury was analyzed by the secretion levels of inflammatory cytokines (IL-6, IL-8 and tumor necrosis factor-α [TNF-α]) by enzyme-linked immunosorbent assay (ELISA). The extracellular matrix degradation was evaluated by expression of aggrecan and matrix metalloproteinase 13 (MMP13) via western blot. The target relationship of miR-671-5p and circ-IQGAP1 or TCF4 was analyzed via dual-luciferase reporter and RNA immunoprecipitation (RIP) analyses. RESULTS: Circ-IQGAP1 abundance was enhanced in the cartilage tissues from OA patients compared with normal subjects (n = 32), and its expression was increased in CHON-001 cells after treatment of IL-1ß in a dose-dependent pattern. MiR-671-5p expression was decreased in the cartilage tissues from OA patients (n = 32) and IL-1ß-challenged CHON-001 cells. MiR-671-5p expression was negatively associated with circ-IQGAP1 level in OA patients. Circ-IQGAP1 silence mitigated IL-1ß-caused chondrocyte viability reduction, apoptosis promotion, secretion of inflammatory cytokine (IL-6, IL-8 and TNF-α), and extracellular matrix degradation (reduction of aggrecan and increase of MMP13). MiR-671-5p was targeted and inhibited via circ-IQGAP1. MiR-671-5p knockdown attenuated the influence of circ-IQGAP1 interference on IL-1ß-caused chondrocyte apoptosis, inflammatory injury, and extracellular matrix degradation. TCF4 was targeted via miR-671-5p, and TCF4 expression was increased in the cartilage tissues from OA patients (n = 32) and IL-1ß-challenged CHON-001 cells. TCF4 abundance in OA patients was negatively correlated with miR-671-5p expression. MiR-671-5p overexpression alleviated IL-1ß-mediated chondrocyte apoptosis, inflammatory injury, and extracellular matrix degradation via decreasing TCF4 expression. Circ-IQGAP1 silence reduced TCF4 expression via regulating miR-671-5p in IL-1ß-challenged CHON-001 cells. CONCLUSION: Circ-IQGAP1 knockdown attenuated IL-1ß-caused chondrocyte apoptosis, inflammatory injury, and extracellular matrix degradation. Circ-IQGAP1 could regulate miR-671-5p/TCF4 axis to modulate IL-1ß-caused chondrocyte damage. Circ-IQGAP1 might act as a new target for the treatment of OA.

Magnetic compression for anastomosis in treating an infant born with long-gap oesophageal atresia: A case report.

RATIONALE: Neonatal long-gap esophageal atresia (LGEA) with tracheoesophageal fistula (TEF) is an uncommon but serious congenital malformation of the esophagus in newborns, and it remains challenging for pediatric surgeons. Magnetic compress has been shown to be effective for the treatment of LGEA in children and adults. However, the implementation of this unique technique for neonatal LGEA has not been evaluated. PATIENT CONCERNS: A female infant was born at 37 weeks of gestation. Prenatal ultrasound imaging revealed signs of esophageal atresia, including the absence of the gastric bubble and polyhydramnios. DIAGNOSES: A diagnosis of LGEA with TEF was confirmed at birth by contrast X-ray. INTERVENTIONS: She was treated with magnetic compression anastomosis (MCA) following an esophago-esophagostomy. Two magnetic rings were customized, and the MCA was conducted during the same stage surgery of ligating the TEF. Under the magnetic force, the 2 magnet rings pulled along the gastric tube to achieve anastomosis. The postoperative permanent suction of these 2 pouches was instituted, and spontaneous growth was awaited. Magnet removal was performed at 36 days, and enteral nutrition was continued via a gastric tube for 4 weeks at post-operation. OUTCOMES: The upper gastrointestinal contrast confirmed the anastomotic patency perfectly after 3 months. The patient was followed up for 18 months, and exhibited durable esophageal patency without dysphagia. LESSONS: These results suggest that MCA is feasible and effective for treating LGEA in infants.

[Transitional CK19 positive cells-a new possible marker of hepatic precancerous lesion].

OBJECTIVE: To investigate the relationship between Transitional CK19 positive cells and hepatic precancerous lesion in chronic hepatitis B patients. METHODS: We observed the expression of CK19 in liver tissue of chronic hepatitis B patients by LSAB immunohistochemical staining, and examined serum AFP and ultrasonography one time per 3 months for one year. RESULTS: We observed a population of CK19 positive cells-with size and structure between those of human oval cells and mature hepatocytes-that usually occurred along with oval-cell proliferation. It was suggested that these transitional cells may partly account for the elevation of serum AFP. One patient occurred hepatic carcinoma, another patient had low-echogenic nodules in liver parenchyma within the 1 year follow-up period. CONCLUSION: Transitional CK19 positive cells could be regarded as a new possible pathological marker of hepatic precancerous lesion.