1.Research advances in Infantile liver failure syndrome.
Chinese Journal of Medical Genetics 2026;43(4):312-317
Pediatric acute liver failure (PALF) is a rare and critical clinical syndrome with a poor prognosis. Its etiology is complex, with a significant proportion of cases having remained classified as indeterminate or cryptogenic PALF. With the application of high-throughput sequencing technologies, a spectrum of disorders caused by specific genetic metabolic defects and characterized by stress-sensitive Recurrent acute liver failure (RALF) has been gradually unveiled, collectively termed Infantile liver failure syndrome (ILFS). Although the molecular mechanisms underlying the subtypes ILFS1, ILFS2, and ILFS3 differ by involving aminoacyl-tRNA synthetase defects, vesicular transport disorders, and autophagy abnormalities, respectively, they share a common clinical phenotype of RALF triggered by fever or infection. This article has systematically reviewed the clinical phenotypic spectrum, molecular genetic characteristics, differential diagnosis strategies, and therapeutic advances of the three ILFS subtypes, with the goal of improving early clinical recognition and precise intervention, and providing an important reference for evaluating the prognosis of different subtypes.
Humans
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Liver Failure, Acute/therapy*
;
Infant
;
Diagnosis, Differential
2.Comparison of clinical characteristics between nasal cavity and sinus NK/T-cell lymphoma and diffuse large B-cell lymphoma.
Yi DONG ; Shunjiu CUI ; Qian HUANG ; Yunfu LIU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(5):457-469
Objective:To compare the clinical characteristics of nasal NK/T-cell lymphoma(NKTL) and diffuse large B-cell lymphoma(DLBCL) to improve the diagnosis and differential diagnosis of nasal lymphomas. Methods:A retrospective analysis of cases of nasal NKTL and DLBCL was conducted. The clinical symptoms, signs, and imaging features of both groups were compared and statistically analyzed. Results: The DLBCL group showed more symptoms like exophthalmos/diplopia and epiphora compared to the NKTL group (both P=0.040). NKTL cases were more likely to be misdiagnosed as sinusitis(P=0.007). In NKTL cases, nasal mucosal swelling(P<0.01), destruction of nasal structures(P=0.002), and external nasal structural abnormalities(P=0.003) were more prevalent. In imaging, the DLBCL group more commonly demonstrated worm-eaten destruction of sinus bones (P=0.004), sinus masses (P=0.018), and invasion of adjacent structures including the pterygopalatine fossa, infratemporal fossa (P<0.01), orbit (P=0.039), and skull base (P=0.011). NKTL involved the turbinates(P=0.001), nasal cavity and septum(P=0.016), nasopharynx(P<0.01), and "skip" infiltration of external nasal tissues(P=0.042) more frequently. No statistically significant differences were found in other clinical features between the two groups. Conclusion:For patients with nasal obstruction and discharge, it is essential to inquire about systemic B symptoms, such as fever, and eye symptoms, such as periorbital swelling, diplopia, and lacrimation. Lymphoma should be suspected if local examination reveals diffuse nasal swelling, destruction of turbinates or septum, and external nasal structural abnormalities. Worm-eaten bone destruction and "cast-like" changes of the turbinates, septum, and nasal cavity, as well as "skip" infiltration of the external nose, are more common in NKTL. Sinus masses with invasion of the pterygopalatine fossa, infratemporal fossa, skull base, and orbit are more typical of DLBCL.
Humans
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Retrospective Studies
;
Lymphoma, Extranodal NK-T-Cell/diagnosis*
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Lymphoma, Large B-Cell, Diffuse/pathology*
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Nasal Cavity/pathology*
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Male
;
Diagnosis, Differential
;
Female
;
Middle Aged
;
Nose Neoplasms/diagnosis*
;
Adult
;
Aged
3.A deep learning method for differentiating nasopharyngeal carcinoma and lymphoma based on MRI.
Yuchen TANG ; Hongli HUA ; Yan WANG ; Zezhang TAO
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(7):597-609
Objective:To development a deep learning(DL) model based on conventional MRI for automatic segmentation and differential diagnosis of nasopharyngeal carcinoma(NPC) and nasopharyngeal lymphoma(NPL). Methods:The retrospective study included 142 patients with NPL and 292 patients with NPC who underwent conventional MRI at Renmin Hospital of Wuhan University from June 2012 to February 2023. MRI from 80 patients were manually segmented to train the segmentation model. The automatically segmented regions of interest(ROIs) formed four datasets: T1 weighted images(T1WI), T2 weighted images(T2WI), T1 weighted contrast-enhanced images(T1CE), and a combination of T1WI and T2WI. The ImageNet-pretrained ResNet101 model was fine-tuned for the classification task. Statistical analysis was conducted using SPSS 22.0. The Dice coefficient loss was used to evaluate performance of segmentation task. Diagnostic performance was assessed using receiver operating characteristic(ROC) curves. Gradient-weighted class activation mapping(Grad-CAM) was imported to visualize the model's function. Results:The DICE score of the segmentation model reached 0.876 in the testing set. The AUC values of classification models in testing set were as follows: T1WI: 0.78(95%CI 0.67-0.81), T2WI: 0.75(95%CI 0.72-0.86), T1CE: 0.84(95%CI 0.76-0.87), and T1WI+T2WI: 0.93(95%CI 0.85-0.94). The AUC values for the two clinicians were 0.77(95%CI 0.72-0.82) for the junior, and 0.84(95%CI 0.80-0.89) for the senior. Grad-CAM analysis revealed that the central region of the tumor was highly correlated with the model's classification decisions, while the correlation was lower in the peripheral regions. Conclusion:The deep learning model performed well in differentiating NPC from NPL based on conventional MRI. The T1WI+T2WI combination model exhibited the best performance. The model can assist in the early diagnosis of NPC and NPL, facilitating timely and standardized treatment, which may improve patient prognosis.
Humans
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Nasopharyngeal Carcinoma/diagnostic imaging*
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Deep Learning
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Magnetic Resonance Imaging
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Retrospective Studies
;
Nasopharyngeal Neoplasms/diagnostic imaging*
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Lymphoma/diagnostic imaging*
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Diagnosis, Differential
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ROC Curve
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Male
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Female
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Middle Aged
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Adult
4.Expert consensus on the diagnosis and treatment of cemental tear.
Ye LIANG ; Hongrui LIU ; Chengjia XIE ; Yang YU ; Jinlong SHAO ; Chunxu LV ; Wenyan KANG ; Fuhua YAN ; Yaping PAN ; Faming CHEN ; Yan XU ; Zuomin WANG ; Yao SUN ; Ang LI ; Lili CHEN ; Qingxian LUAN ; Chuanjiang ZHAO ; Zhengguo CAO ; Yi LIU ; Jiang SUN ; Zhongchen SONG ; Lei ZHAO ; Li LIN ; Peihui DING ; Weilian SUN ; Jun WANG ; Jiang LIN ; Guangxun ZHU ; Qi ZHANG ; Lijun LUO ; Jiayin DENG ; Yihuai PAN ; Jin ZHAO ; Aimei SONG ; Hongmei GUO ; Jin ZHANG ; Pingping CUI ; Song GE ; Rui ZHANG ; Xiuyun REN ; Shengbin HUANG ; Xi WEI ; Lihong QIU ; Jing DENG ; Keqing PAN ; Dandan MA ; Hongyu ZHAO ; Dong CHEN ; Liangjun ZHONG ; Gang DING ; Wu CHEN ; Quanchen XU ; Xiaoyu SUN ; Lingqian DU ; Ling LI ; Yijia WANG ; Xiaoyuan LI ; Qiang CHEN ; Hui WANG ; Zheng ZHANG ; Mengmeng LIU ; Chengfei ZHANG ; Xuedong ZHOU ; Shaohua GE
International Journal of Oral Science 2025;17(1):61-61
Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans
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Dental Cementum/injuries*
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Consensus
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Diagnosis, Differential
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Cone-Beam Computed Tomography
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Tooth Fractures/therapy*
5.Multidisciplinary consensus on the diagnosis and treatment of atypical hemolytic uremic syndrome (2025 version).
Chinese Journal of Internal Medicine 2025;64(5):396-411
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by microangiopathic hemolytic anemia, thrombocytopenia, and multi-organ damage, with the kidneys being predominantly affected. aHUS results from dysregulation of the complement alternative pathway, triggered by factors including infection, pregnancy, and surgery, among others. Therefore, complement inhibitors play a crucial role in the treatment of aHUS by blocking abnormal activation of the complement system and improving patients' prognosis. This consensus, developed by the Multidisciplinary Consensus Working Group on Atypical Hemolytic Uremic Syndrome Diagnosis and Treatment, is based on the latest literature and guidelines, discusses the pathogenesis, diagnosis and differential diagnosis, and treatment strategies for aHUS, and provides a guide and reference for the standardized diagnosis and management of aHUS in China.
Humans
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Atypical Hemolytic Uremic Syndrome/therapy*
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Consensus
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Diagnosis, Differential
;
Prognosis
6.Lymphatic and Venous Contrast-Enhanced Ultrasound Imaging for Differential Diagnosis of Cervical Lymph Node Metastasis in Thyroid Cancer.
Li XU ; Wen-Bo WAN ; Tian GAO ; Tao-Hua GOU ; Yan ZHANG
Acta Academiae Medicinae Sinicae 2025;47(1):16-22
Objective To investigate the value of the novel lymphatic contrast-enhanced ultrasound(LCEUS)and conventional venous contrast-enhanced ultrasound(VCEUS)in the differential diagnosis of benign and malignant cervical lymph nodes in patients with thyroid cancer. Methods Patients with suspected thyroid cancer underwent conventional ultrasound,VCEUS,and LCEUS examinations of cervical lymph nodes before biopsy.The diagnostic abilities of conventional ultrasound,VCEUS,and LCEUS were compared with pathological results as the golden standard. Results Forty-four patients with 52 lymph nodes were included in the final data.Thirty-eight metastatic lymph nodes were confirmed by pathological results,and 14 were benign.The diagnostic sensitivity,specificity,and accuracy were 97.37%,71.43%,and 90.38% for LCEUS,92.11%,35.71%,and 76.92% for VCEUS,and 94.74%,21.43%,and 75.00% for conventional ultrasound,respectively.The area under the curve of LCEUS analyzed by the receiver operating characteristic curve was greater than that of VCEUS(P=0.020)and conventional ultrasound(P<0.001). Conclusion LCEUS could significantly improve the differential diagnosis of cervical lymph node metastasis in the patients with thyroid cancer,providing a basis for precise clinical treatment.
Humans
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Thyroid Neoplasms/diagnostic imaging*
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Lymphatic Metastasis/diagnostic imaging*
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Diagnosis, Differential
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Female
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Male
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Middle Aged
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Ultrasonography
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Adult
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Lymph Nodes/pathology*
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Contrast Media
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Neck
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Aged
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Young Adult
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Adolescent
;
Sensitivity and Specificity
7.Ultrasonographic Diagnosis of Sigmoid Colon Schwannoma: Report of One Case and Literature Review.
Acta Academiae Medicinae Sinicae 2025;47(5):776-781
Sigmoid colon schwannoma is a rare benign gastrointestinal tumor that is challenging to be diagnosed preoperatively.This paper reported a case of sigmoid colon schwannoma that was preoperatively misdiagnosed as a gastrointestinal stromal tumor on ultrasonography.Intraoperative frozen section analysis identified it as a spindle cell tumor,with definitive diagnosis confirmed as gastrointestinal schwannoma via immunohistochemistry.This paper summarizes the similarities and differentiating features of intestinal stromal tumors and schwannomas on ultrasonographic imaging.By analyzing and discussing previous literature,we aim to enhance the diagnostic and differential diagnostic capabilities of ultrasonographers in preoperative evaluation of intestinal schwannomas,thereby providing reliable evidence for clinicians in the diagnosis and management of this condition.
Humans
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Neurilemmoma/diagnostic imaging*
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Ultrasonography
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Sigmoid Neoplasms/diagnostic imaging*
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Male
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Colon, Sigmoid/diagnostic imaging*
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Middle Aged
;
Female
;
Diagnosis, Differential
8.Interpretation on the multiple connotations of twelve-meridian differentiation.
Huilin ZENG ; Bing LIU ; Ruixia WANG
Chinese Acupuncture & Moxibustion 2025;45(9):1341-1346
It attempts to determine the theoretical connotation and clinical application of the twelve-meridian based syndrome/pattern differentiation of TCM through the systematic analysis and elaboration, so as to promote the completion of meridian differentiation system. The exploration is conducted on the main body of traditional meridian-syndrome differentiation, meaning the meridian differentiation in terms of location of illness and that in terms of symptoms. The existing problems and causes are analyzed, and the specific methods of meridian differentiation put forward in line with the characteristics of meridian distribution and symptoms. In reference with Huangdi Neijing (Yellow Emperors' Canon of Medicine) and other ancient literature, the theoretical evidences of meridian differentiation are deeply analyzed in view of physiological/pathological characteristics that has been neglected in the past, such as qi and blood of meridians, opening, closing and pivoting, and time. Additionally, the category issues related to twelve-meridian differentiation and their relationship with six-meridian differentiation are expounded. The summary on the multiple connotations of twelve-meridian differentiation is of great significance on re-understanding meridians, perfecting meridian-collateral differentiation system and improving the accuracy on meridian-based treatment. Besides, the reconstruction of meridian differentiation and its framework is considered profoundly.
Meridians
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Humans
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Medicine, Chinese Traditional
;
Acupuncture Therapy
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Diagnosis, Differential
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History, Ancient
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Acupuncture Points
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Medicine in Literature
9.ZHAO Jiping's acupuncture diagnostic and therapeutic approach to tic disorders with a focus on disease location differentiation.
Yuying YANG ; Jiping ZHAO ; Yingying GUI ; Jing LIU ; Zijing WANG ; Chao YANG
Chinese Acupuncture & Moxibustion 2025;45(12):1789-1794
This paper summarizes Professor ZHAO Jiping's acupuncture diagnostic and therapeutic approach for tic disorders (TD). Focusing on the pathological characteristics of tic disorder (TD), this study analyzes TD's multilayered disease localization. Based on disease-based differentiation, it is proposed that the fundamental pathological location lie in the liver and brain, while the manifestation is in the sinew meridians. The core pathogenesis is characterized as "internal stirring of wind due to liver hyperactivity, upward disturbance of the mind in the brain, and external disharmony of the sinews", based on which the fundamental therapeutic principles are established as calming the liver and extinguishing wind, tranquilizing the mind and awakening the brain, and dredging and regulating the sinews. In clinical practice, attention is paid to meridian and acupoint examination, integrating the four diagnostic methods to assess the deficiency or excess of the liver, the state of the mind, and the condition of the sinews. Acupoint selection emphasizes three regulatory strategies: (1) liver regulation: Taichong (LR3), Hegu (LI4) are selected to soothe the liver and regulate qi; (2) brain regulation: Baihui (GV20), Shenting (GV24), Yintang (GV24+), Fengchi (GB20) are selected to calm the mind and stabilize the spirit; (3) sinew regulation: Yanglingquan (GB34), Zusanli (ST36), Quchi (LI11) are selected to regulate qi and blood and relax the sinews. Manipulation techniques, as well as various acupuncture and moxibustion methods, are also emphasized. A differential treatment framework of "layered disease localization-corresponding pathogenesis-precise acupoint selection and technique" has been established to provide a clinical guide for the diagnosis and treatment of TD.
Humans
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Acupuncture Therapy/history*
;
Tic Disorders/diagnosis*
;
Acupuncture Points
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Meridians
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Diagnosis, Differential
;
China
10.Construction of acupuncture-moxibustion diagnosis and treatment system for spasm syndrome based on the theory of three regions and sanjiao.
Yi LI ; Guirong DONG ; Chunling BAO ; Zhihua JIAO ; Hongsheng DONG ; Liang ZHOU ; Yingchao LIU
Chinese Acupuncture & Moxibustion 2025;45(12):1811-1814
Based on the theory of "three regions and sanjiao" in traditional Chinese medicine (TCM), the acupuncture-moxibustion differentiation and treatment system is explored and constructed for spasm syndrome, so as to provide a clearer guiding framework for TCM treatment of spasm syndrome. This disorder is caused essentially by the invasion of pathogenic wind, and located in brain marrow. The key regions of illness cover five zang organs and five tissues, and the core pathogenesis is associated with wind disturbance in brain marrow. In differentiation, spasm syndrome refers to overall transmission (from the upper to the lower) and local transmission (from exterior to interior). This disorder can be classified into sanjiao spasm (heart-lung spasm of the upper jiao, liver-spleen spasm of the middle jiao, and liver-kidney spasm of the lower jiao) and three-region spasm (skin-vessel spasm of the upper region, tendon-muscle spasm of the middle region, and tendon-bone spasm of the lower region). Based on "three regions and sanjiao" theory of acupuncture and moxibustion, 7 "expelling-wind" points can be selected in terms of the etiology of this disease. Baihui (GV20)-toward-Taiyang (EX-HN5) needling is applied to regulate the brain marrow, focusing on the core location of illness; and regarding the key location of illness, the combination of back-shu and front-mu points and that of jing-well and xing-spring points are adopted to regulate five zang organs. The five needling techniques (half needling, leopard-spot needling, joint needling, Hegu needling and shu needling) are used to regulate five tissues.
Humans
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Acupuncture Therapy
;
Spasm/diagnosis*
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Moxibustion
;
Acupuncture Points
;
Medicine, Chinese Traditional
;
Diagnosis, Differential

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