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A case of Wolf-Hirschhorn syndrome without deletion in the WHSCR region and literature review
Author:Lu Yanchao Gao Ying Zhang Jingjing
keyword:Wolf-Hirschhorn syndromeEpilepsyDevelopmental delayIntellectual disabilityCraniofacial malformationDiagnosisTreatment
This article reports the case of a patient with Wolf-Hirschhorn syndrome without WHSCR region deletion and reviews the literature.
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Research progress on different eradication treatment regimens for Helicobacter pylori and their influencing factors
Author:Xie Wenli (综述) Yang Jie (审校) Wu Sheng (审校)
keyword:Helicobacter pyloriEradication therapyInfluencing factors
Helicobacter pylori(Hp) is a Gram-negative, transmissible pathogen responsible for human gastric diseases, with approximately half of the global population infected. Eradication of Hp has been proven to effectively reduce the risk of gastric cancer. In China, however, the limitations of current therapeutic regimens and multiple factors influencing treatment outcomes have rendered Hp eradication substantially challenging. This review systematically summarizes the progress of first-line therapy, second-line rescue therapy and non-antibiotic alternative strategies for Hp eradication, and discusses key determinants of treatment efficacy, including antibiotic resistance, CYP2C19 gene polymorphisms, and patient compliance, with the aim of providing clinical references for optimizing Hp eradication strategies.
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Research progress on biomarkers related to radiotherapy sensitivity in esophageal cancer
Author:He Leran (综述) Cheng Yufeng (审校)
keyword:Esophageal cancerRadiotherapySensitivityBiomarker
Esophageal cancer is a highly prevalent malignant tumor of the digestive tract worldwide. Radiotherapy, as one of the core methods of comprehensive treatment, plays a key role in the radical treatment, postoperative adjuvant therapy,and palliative care of locally advanced patients. However, there are significant individual differences in radiotherapy sensitivity among esophageal cancer patients in clinical practice. Some patients may experience treatment failure, tumor recurrence, and metastasis due to radiotherapy resistance, which seriously affects prognosis. Biomarkers, as key indicators reflecting the biological behavior of tumor cells and predicting treatment response, provide important references for the development of individualized radiotherapy plans, efficacy evaluation, and prognosis judgment for esophageal cancer. This article categorizes biomarkers by function into three types: exposure(contact) biomarkers, effect biomarkers, and sensitivity biomarkers. It provides a comprehensive review of these biomarkers, focusing on their characteristics and clinical application value during the initial diagnosis, treatment process, and post-treatment stages of esophageal cancer. It systematically summarizes their mechanism of action and clinical research progress, explores current challenges and future directions, and provides a theoretical basis for individualized radiotherapy strategies for esophageal cancer.
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Research status of inflammatory metabolic markers in the progress of diabetic nephropathy
Author:Huang Xinxin (综述) Li Zhiming (审校) Meng Xubiao (审校)
keyword:Diabetic nephropathyInflammationMetabolismBiomarkersDisease progression
diabetic nephropathy(DN) is the most common microvascular complication of diabetic and the primary cause of end stage renal disease(ESRD), which seriously threatens the quality of life of patients. The interaction and crosstalk between metabolic disorders and chronic inflammation are the core pathological mechanisms driving the progression of diabetic nephropathy, forming a vicious cycle of “metabolic abnormalities inflammation amplification renal injury aggravation”, and participating in key pathological processes such as glomerulosclerosis and tubulointerstitial fibrosis. Inflammation metabolic markers can simultaneously reflect the metabolic imbalance and inflammatory activation status of the body, covering multiple categories such as classical inflammatory factors, inflammasomes, acute phase response proteins, glucose and lipid metabolites, oxidative stress, and adipokines. They can compensate for the lack of sensitivity and specificity of a single marker and have important value in early warning, disease stratification, prognosis evaluation, and efficacy monitoring of diabetic nephropathy. Therefore, elucidating the mechanism of action, detection value, and clinical application of inflammation metabolic markers in the system can provide important basis for early diagnosis, precise intervention, and development of new targets for DN. This article reviews the classification of inflammation metabolic markers, their mechanisms of action in the progression of diabetic nephropathy, their clinical application value, and research prospects.
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Research progress on biomarkers for diagnosing congenital heart disease in children
Author:Li Fangzhou (综述) Sha Poping (审校) Lyu Lin (审校)
keyword:Congenital heart diseaseBiomarkersDiagnosisResearch progressChildren
Congenital heart disease(CHD) is a common congenital defect in children, with a higher incidence in preterm neonates. Early diagnosis and treatment can effectively alleviate the disease, and significant progress has been made in the diagnosis and management of CHD. However, the current screening system for CHD in China is not yet completely established, leading to delayed diagnosis in some children and consequently missing the optimal treatment time. All these cause severeimpact on neonatal health. In recent years, with continuous development of biomarker detection, many biomarkers have been applied in clinical diagnosis, treatment, and prognostic assessment. These biomarkers demonstrate advantages such as simplicity, effectiveness, rapidity, and high reproducibility. Herein, research progress on biomarkers for diagnosing CHD in children was reviewed, aiming to clarify the application and development status of biomarkers for diagnosing CHD in children.