1.Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Fan YU ; Yinfang TU ; Yanfang ZHANG ; Tianwei GU ; Haoyong YU ; Xiangyu MENG ; Si CHEN ; Fengjing LIU ; Ke HUANG ; Tianhao BA ; Siqian GONG ; Danfeng PENG ; Dandan YAN ; Xiangnan FANG ; Tongyu WANG ; Yang HUA ; Xianghui CHEN ; Hongli CHEN ; Jie XU ; Rong ZHANG ; Linong JI ; Yan BI ; Xueyao HAN ; Hong ZHANG ; Cheng HU
Chinese Medical Journal 2025;138(9):1129-1131
2.Alert to the overlooked important oral disease: peri-implant diseases
Xianghui FENG ; Jie HAN ; Dong SHI ; Huanxin MENG
Chinese Journal of Stomatology 2025;60(5):443-453
Peri-implant diseases are inflammatory diseases in the spectrum of oral diseases, which are caused by the dysbiosis of peri-implant flora and the imbalance between microorganism and host. Peri-implant diseases are divided into two types: peri-implant mucositis and peri-implantitis. The diagnostic definition of peri-implant mucositis is based on presence of peri-implant signs of inflammation (redness, swelling, line or drop of bleeding/suppuration following probing) and no additional bone loss following initial healing. The clinical definition of peri-implantitis is based on not only the presence of peri-implant signs of inflammation but also radiographic evidence of bone loss following initial healing. Peri-implant diseases, like periodontitis, have clear etiology, histopathological features, clinical manifestations, and current international consensus diagnostic criteria. This article provides an overview of the etiology, histopathological features, key points of examination and diagnosis, prevention and non-surgical treatment, and surgical treatment of peri-implant diseases. The aim is to raise the awareness of dentists, especially those who specialize in oral implantology and restoration, to have a concept of periodontal and implant health, master the basic theoretical knowledge and prevention and treatment methods of peri-implant diseases, and also inform patients to control plaque and maintain their oral health.
3.Alert to the overlooked important oral disease: peri-implant diseases
Xianghui FENG ; Jie HAN ; Dong SHI ; Huanxin MENG
Chinese Journal of Stomatology 2025;60(5):443-453
Peri-implant diseases are inflammatory diseases in the spectrum of oral diseases, which are caused by the dysbiosis of peri-implant flora and the imbalance between microorganism and host. Peri-implant diseases are divided into two types: peri-implant mucositis and peri-implantitis. The diagnostic definition of peri-implant mucositis is based on presence of peri-implant signs of inflammation (redness, swelling, line or drop of bleeding/suppuration following probing) and no additional bone loss following initial healing. The clinical definition of peri-implantitis is based on not only the presence of peri-implant signs of inflammation but also radiographic evidence of bone loss following initial healing. Peri-implant diseases, like periodontitis, have clear etiology, histopathological features, clinical manifestations, and current international consensus diagnostic criteria. This article provides an overview of the etiology, histopathological features, key points of examination and diagnosis, prevention and non-surgical treatment, and surgical treatment of peri-implant diseases. The aim is to raise the awareness of dentists, especially those who specialize in oral implantology and restoration, to have a concept of periodontal and implant health, master the basic theoretical knowledge and prevention and treatment methods of peri-implant diseases, and also inform patients to control plaque and maintain their oral health.
4.Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease
Han GAO ; Xianghui HUANG ; Weicheng CHEN ; Zhiyu FENG ; Zhengshan ZHAO ; Ping LI ; Chaozhong TAN ; Jinxin WANG ; Quannan ZHUANG ; Yuan GAO ; Shaojie MIN ; Qinyu YAO ; Maoxiang QIAN ; Xiaojing MA ; Feizhen WU ; Weili YAN ; Wei SHENG ; Guoying HUANG
Chinese Medical Journal 2024;137(15):1823-1834
Background::Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.Methods::Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, and PNPLA4 was identified as the leading candidate gene. To validate, we generated PNPLA4-overexpressing human induced pluripotent stem cell lines as well as pnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular analyses. Results::Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, and PNPLA4 in the Xp22.31 was a candidate gene associated with HTX/CHD. PNPLA4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series of in vivo and in vitro analyses at the molecular and cellular levels, we revealed that the biological function of PNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP production. Conclusions::Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose of PNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.
5.Magnetic Resonance Imaging-Related Anatomic and Functional Parameters for the Diagnosis and Prognosis of Chiari Malformation Type I: A Systematic Review and Meta-analysis
Zairan WANG ; Zhimin LI ; Shiyuan HAN ; Xianghui HU ; Siyuan PANG ; Yongning LI ; Jun GAO
Neurospine 2024;21(2):510-524
Objective:
Imaging parameters of Chiari malformation type I (CMI) development are not well established. This study aimed to collect evidence of general or specific imaging measurements in patients with CMI, analyze indicators that may assist in determining the severity of CMI, and guide its diagnosis and treatment.
Methods:
A comprehensive search was conducted across various databases including the Cochrane Library, PubMed, MEDLINE, Scopus, and Embase, covering the period from January 2002 to October 2023, following predefined inclusion criteria. Meta-analyses were performed using RevMan (ver. 5.4). We performed a quantitative summary and systematic analysis of the included studies. This study was registered in the PROSPERO (International Prospective Register of Systematic Reviews) prior to initiation (CRD42023415454).
Results:
Thirty-three studies met our inclusion criteria. The findings indicated that out of the 14 parameters examined, 6 (clivus length, basal angle, Boogard’s angle, supraocciput lengths, posterior cranial fossa [PCF] height, and volume) exhibited significant differences between the CMI group and the control group. Furthermore, apart from certain anatomical parameters that hold prognostic value for CMI, functional parameters like tonsillar movement, obex displacement, and cerebrospinal fluid dynamics serve as valuable indicators for guiding the clinical management of the disease.
Conclusion
We collated and established a set of linear, angular, and area measurements deemed essential for diagnosing CMI. However, more indicators can only be analyzed descriptively for various reasons, particularly in prognostic prediction. We posit that the systematic assessment of patients’ PCF morphology, volume, and other parameters at a 3-dimensional level holds promising clinical application prospects.
6.Magnetic Resonance Imaging-Related Anatomic and Functional Parameters for the Diagnosis and Prognosis of Chiari Malformation Type I: A Systematic Review and Meta-analysis
Zairan WANG ; Zhimin LI ; Shiyuan HAN ; Xianghui HU ; Siyuan PANG ; Yongning LI ; Jun GAO
Neurospine 2024;21(2):510-524
Objective:
Imaging parameters of Chiari malformation type I (CMI) development are not well established. This study aimed to collect evidence of general or specific imaging measurements in patients with CMI, analyze indicators that may assist in determining the severity of CMI, and guide its diagnosis and treatment.
Methods:
A comprehensive search was conducted across various databases including the Cochrane Library, PubMed, MEDLINE, Scopus, and Embase, covering the period from January 2002 to October 2023, following predefined inclusion criteria. Meta-analyses were performed using RevMan (ver. 5.4). We performed a quantitative summary and systematic analysis of the included studies. This study was registered in the PROSPERO (International Prospective Register of Systematic Reviews) prior to initiation (CRD42023415454).
Results:
Thirty-three studies met our inclusion criteria. The findings indicated that out of the 14 parameters examined, 6 (clivus length, basal angle, Boogard’s angle, supraocciput lengths, posterior cranial fossa [PCF] height, and volume) exhibited significant differences between the CMI group and the control group. Furthermore, apart from certain anatomical parameters that hold prognostic value for CMI, functional parameters like tonsillar movement, obex displacement, and cerebrospinal fluid dynamics serve as valuable indicators for guiding the clinical management of the disease.
Conclusion
We collated and established a set of linear, angular, and area measurements deemed essential for diagnosing CMI. However, more indicators can only be analyzed descriptively for various reasons, particularly in prognostic prediction. We posit that the systematic assessment of patients’ PCF morphology, volume, and other parameters at a 3-dimensional level holds promising clinical application prospects.
7.Magnetic Resonance Imaging-Related Anatomic and Functional Parameters for the Diagnosis and Prognosis of Chiari Malformation Type I: A Systematic Review and Meta-analysis
Zairan WANG ; Zhimin LI ; Shiyuan HAN ; Xianghui HU ; Siyuan PANG ; Yongning LI ; Jun GAO
Neurospine 2024;21(2):510-524
Objective:
Imaging parameters of Chiari malformation type I (CMI) development are not well established. This study aimed to collect evidence of general or specific imaging measurements in patients with CMI, analyze indicators that may assist in determining the severity of CMI, and guide its diagnosis and treatment.
Methods:
A comprehensive search was conducted across various databases including the Cochrane Library, PubMed, MEDLINE, Scopus, and Embase, covering the period from January 2002 to October 2023, following predefined inclusion criteria. Meta-analyses were performed using RevMan (ver. 5.4). We performed a quantitative summary and systematic analysis of the included studies. This study was registered in the PROSPERO (International Prospective Register of Systematic Reviews) prior to initiation (CRD42023415454).
Results:
Thirty-three studies met our inclusion criteria. The findings indicated that out of the 14 parameters examined, 6 (clivus length, basal angle, Boogard’s angle, supraocciput lengths, posterior cranial fossa [PCF] height, and volume) exhibited significant differences between the CMI group and the control group. Furthermore, apart from certain anatomical parameters that hold prognostic value for CMI, functional parameters like tonsillar movement, obex displacement, and cerebrospinal fluid dynamics serve as valuable indicators for guiding the clinical management of the disease.
Conclusion
We collated and established a set of linear, angular, and area measurements deemed essential for diagnosing CMI. However, more indicators can only be analyzed descriptively for various reasons, particularly in prognostic prediction. We posit that the systematic assessment of patients’ PCF morphology, volume, and other parameters at a 3-dimensional level holds promising clinical application prospects.
8.Magnetic Resonance Imaging-Related Anatomic and Functional Parameters for the Diagnosis and Prognosis of Chiari Malformation Type I: A Systematic Review and Meta-analysis
Zairan WANG ; Zhimin LI ; Shiyuan HAN ; Xianghui HU ; Siyuan PANG ; Yongning LI ; Jun GAO
Neurospine 2024;21(2):510-524
Objective:
Imaging parameters of Chiari malformation type I (CMI) development are not well established. This study aimed to collect evidence of general or specific imaging measurements in patients with CMI, analyze indicators that may assist in determining the severity of CMI, and guide its diagnosis and treatment.
Methods:
A comprehensive search was conducted across various databases including the Cochrane Library, PubMed, MEDLINE, Scopus, and Embase, covering the period from January 2002 to October 2023, following predefined inclusion criteria. Meta-analyses were performed using RevMan (ver. 5.4). We performed a quantitative summary and systematic analysis of the included studies. This study was registered in the PROSPERO (International Prospective Register of Systematic Reviews) prior to initiation (CRD42023415454).
Results:
Thirty-three studies met our inclusion criteria. The findings indicated that out of the 14 parameters examined, 6 (clivus length, basal angle, Boogard’s angle, supraocciput lengths, posterior cranial fossa [PCF] height, and volume) exhibited significant differences between the CMI group and the control group. Furthermore, apart from certain anatomical parameters that hold prognostic value for CMI, functional parameters like tonsillar movement, obex displacement, and cerebrospinal fluid dynamics serve as valuable indicators for guiding the clinical management of the disease.
Conclusion
We collated and established a set of linear, angular, and area measurements deemed essential for diagnosing CMI. However, more indicators can only be analyzed descriptively for various reasons, particularly in prognostic prediction. We posit that the systematic assessment of patients’ PCF morphology, volume, and other parameters at a 3-dimensional level holds promising clinical application prospects.
9.Magnetic Resonance Imaging-Related Anatomic and Functional Parameters for the Diagnosis and Prognosis of Chiari Malformation Type I: A Systematic Review and Meta-analysis
Zairan WANG ; Zhimin LI ; Shiyuan HAN ; Xianghui HU ; Siyuan PANG ; Yongning LI ; Jun GAO
Neurospine 2024;21(2):510-524
Objective:
Imaging parameters of Chiari malformation type I (CMI) development are not well established. This study aimed to collect evidence of general or specific imaging measurements in patients with CMI, analyze indicators that may assist in determining the severity of CMI, and guide its diagnosis and treatment.
Methods:
A comprehensive search was conducted across various databases including the Cochrane Library, PubMed, MEDLINE, Scopus, and Embase, covering the period from January 2002 to October 2023, following predefined inclusion criteria. Meta-analyses were performed using RevMan (ver. 5.4). We performed a quantitative summary and systematic analysis of the included studies. This study was registered in the PROSPERO (International Prospective Register of Systematic Reviews) prior to initiation (CRD42023415454).
Results:
Thirty-three studies met our inclusion criteria. The findings indicated that out of the 14 parameters examined, 6 (clivus length, basal angle, Boogard’s angle, supraocciput lengths, posterior cranial fossa [PCF] height, and volume) exhibited significant differences between the CMI group and the control group. Furthermore, apart from certain anatomical parameters that hold prognostic value for CMI, functional parameters like tonsillar movement, obex displacement, and cerebrospinal fluid dynamics serve as valuable indicators for guiding the clinical management of the disease.
Conclusion
We collated and established a set of linear, angular, and area measurements deemed essential for diagnosing CMI. However, more indicators can only be analyzed descriptively for various reasons, particularly in prognostic prediction. We posit that the systematic assessment of patients’ PCF morphology, volume, and other parameters at a 3-dimensional level holds promising clinical application prospects.
10.Diagnosis and treatment recommendations of dialysis patients with SARS-CoV-2 infection for primary care clinicians
Rongguo FU ; Zhao CHEN ; Lining JIA ; Li WANG ; Jin HAN ; Lifang TIAN ; Xianghui CHEN ; Linting WEI ; Fuqian LEI ; Jiamei LU ; Xiaoqin MA ; Li ZHAO ; Shizhuo WEI ; Jing LIU ; Zhaoyang DUAN ; Jie GAO
Journal of Xi'an Jiaotong University(Medical Sciences) 2023;44(3):353-360
End-stage renal disease (ESRD) patients undergoing outpatient hemodialysis (HD) and home peritoneal dialysis (PD) are high risk population of severe and critical types caused by SARS-CoV-2 infection. In order to improve the quality of diagnosis and treatment in dialysis patients with SARS-CoV-2 infection, we wrote this recommendation for primary care clinicians. During the epidemic period of SARS-CoV-2 infection, all patients should be instructed to strengthen self-management. Once the SARS-CoV-2 infection was found in dialysis patients, early stratified management should be carried out within 72 hours after the first positive nucleic acid or antigen test results, which includes early antiviral therapy, early recognition, and transferring severe patients from community or primary hospital to a referral hospital promptly. Guidance for dietary and sports rehabilitation after SARS-CoV-2 infection should also be started as soon as possible.

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