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*
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Infant
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Diagnosis, Differential
2.The diagnostic strategy, procedure and pathway for acute vestibular syndrome SCD.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(4):292-307
Acute vestibular syndrome(AVS) accounts for about 5% of walk clinic, and 20% of neurology consultations in the emergency department. A central acute vestibular syndrome is of high-risk vertigo disorders or potentially life-threaten disorders. Some of the central vestibular vertigo, especially brainstem or cerebellar ischemic infarction, can be misdiagnosed due to the absence of focal neurological symptoms and signs. In the past decade, the diagnosis mode and diagnosis pathway of vestibular syndrome have been made great progress. The HINTS examination battery reported by Kattah et al. (2009), the STANDING examination battery reported by Vanni et al. (2014) as well as the "Big five" step examination procedure reported by Brandt et al. (2017) have been used widely to identify stroke in clinic. The TiTrATE proposed by Newman Toker and Edlow(2015) as well as the ATTEST proposed by Gurley and Edlow(2019) have promoted the accuracy for AVS diagnosis. However, only about 50% of patients with cerebellar ischemic infarction have spontaneous nystagmus. The sensitivity of direction-changing nystagmus in diagnostic predicting stroke in acute vestibular syndrome was only 38%. The diagnostic predictive sensitivity of AICA stroke was only 62% when the horizontal head pulse test were normal. Therefore, the bed-side test battery for differentiating acute isolated vertigo as well as the diagnosis approach of AVS need to be further improved. Based on the SCD diagnosis strategy and the differentiating pathway for vestibular disorders proposed by the author, I propose further in this paper the step-rised SCD strategy for the acute vestibular syndrome, and the ABC mode for differentiating central vestibular vertigo[A: Associated neurological deficit(or: with headache=HAND); B: Eye(E³) GAP examination battery; C: Combined warning battery of A³B²C²D²E³], as well as the differential diagnosis pathway of acute vestibular diseases. The history questioning of associated neurological deficit and the examining batteries for acute central vestibular disorders can be summarized as an illogical English phrase "HAND-Eye(E³) GAP" for memory.
Humans
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Vestibular Diseases/diagnosis*
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Vertigo/diagnosis*
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Diagnosis, Differential
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Nystagmus, Pathologic/diagnosis*
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Acute Disease
3.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
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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
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Diagnosis, Differential
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Female
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Middle Aged
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Nose Neoplasms/diagnosis*
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Adult
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Aged
4.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
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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
5.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
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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
6.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*
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Tic Disorders/diagnosis*
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Acupuncture Points
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Meridians
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Diagnosis, Differential
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China
7.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
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Spasm/diagnosis*
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Moxibustion
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Acupuncture Points
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Medicine, Chinese Traditional
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Diagnosis, Differential
8.Machine learning models established to distinguish OA and RA based on immune factors in the knee joint fluid.
Qin LIANG ; Lingzhi ZHAO ; Yan LU ; Rui ZHANG ; Qiaolin YANG ; Hui FU ; Haiping LIU ; Lei ZHANG ; Guoduo LI
Chinese Journal of Cellular and Molecular Immunology 2025;41(4):331-338
Objective Based on 25 indicators including immune factors, cell count classification, and smear results of the knee joint fluid, machine learning models were established to distinguish between osteoarthritis (OA) and rheumatoid arthritis (RA). Methods 100 OA and 40 RA patients scheduled for total knee arthroplasty were enrolled respectively. Each patient's knee joint fluid was collected preoperatively. Nucleated cells were counted and classified. The expression levels of immune factors, including tumor necrosis factor alpha (TNF-α), interleukin-1 beta (IL-1β), IL-6, IL-8, IL-15, matrix metalloproteinase 3 (MMP3), MMP9, MMP13, rheumatoid factor (RF), serum amyloid A (SAA), C-reactive protein (CRP), and others were measured. Smears and microscopic classification of all the immune factors were performed. Independent influencing factors for OA or RA were identified using univariate binary logistic regression, Lasso regression, and multivariate binary logistic regression. Based on the independent influencing factors, three machine learning models were constructed which are logistic regression, random forest, and support vector machine. Receiver operating characteristic curve (ROC), calibration curve and decision curve analysis (DCA) were used to evaluate and compare the models. Results A total of 5 indicators in the knee joint fluid were screened out to distinguish OA and RA, which were IL-1β(odds ratio(OR)=10.512, 95× confidence interval (95×CI) was 1.048-105.42, P=0.045), IL-6 (OR=1.007, 95×CI was 1.001-1.014, P=0.022), MMP9 (OR=3.202, 95×CI was 1.235-8.305, P=0.017), MMP13 (OR=1.002, 95× CI was 1-1.004, P=0.049), and RF (OR=1.091, 95×CI was 1.01-1.179, P=0.026). According to the results of ROC, calibration curve and DCA, the accuracy (0.979), sensitivity (0.98) and area under the curve (AUC, 0.996, 95×CI was 0.991-1) of the random forest model were the highest. It has good validity and feasibility, and its distinguishing ability is better than the other two models. Conclusion The machine learning model based on immune factors in the knee joint fluid holds significant value in distinguishing OA and RA. It provides an important reference for the clinical early differential diagnosis, prevention and treatment of OA and RA.
Humans
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Arthritis, Rheumatoid/metabolism*
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Machine Learning
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Male
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Female
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Middle Aged
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Aged
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Synovial Fluid/immunology*
;
Osteoarthritis, Knee/metabolism*
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Knee Joint/metabolism*
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ROC Curve
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Diagnosis, Differential
9.Differentiation between nonobstructive azoospermia and obstructive azoospermia: then and now.
Logan HUBBARD ; Amarnath RAMBHATLA ; Giovanni M COLPI
Asian Journal of Andrology 2025;27(3):298-306
Male infertility has seen an increase in prevalence with cases of azoospermia estimated to affect 10%-15% of infertile men. Confirmation of azoospermia subsequently necessitates an early causal differentiation between obstructive azoospermia (OA) and nonobstructive azoospermia (NOA). Although less common when compared to NOA, OA can represent upward 20%-40% of cases of azoospermia. While there are a multitude of etiologies responsible for causing NOA and OA, correctly distinguishing between the two types of azoospermia has profound implications in managing the infertile male. This review represents an amalgamation of the current guidelines and literature which will supply the reproductive physician with a diagnostic armamentarium to properly distinguish between NOA and OA, therefore providing the best possible care to the infertile couple.
Humans
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Azoospermia/etiology*
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Male
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Diagnosis, Differential
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Infertility, Male/etiology*
10.Clinical and immunological features for early differentiation between primary immune thrombocytopenia and connective tissue disease in children.
Fu-Rong KANG ; Mei YAN ; Ying-Bin YUE ; Hailiguli NURIDDIN ; Yong-Feng CHENG ; Yu LIU
Chinese Journal of Contemporary Pediatrics 2025;27(8):974-981
OBJECTIVES:
To investigate the clinical and immunological features of children with primary immune thrombocytopenia (pITP) or connective tissue disease (CTD) with thrombocytopenia as the initial manifestation at initial diagnosis, and to provide a basis for early differentiation.
METHODS:
A retrospective study was performed on 236 children with pITP (pITP group) or CTD with thrombocytopenia as the initial manifestation (CTD-TP group) who were admitted from January 2019 to August 2024. Clinical and immunological indicators were compared between the two groups to identify potential influencing factors for early differentiation and their discriminative validity.
RESULTS:
Compared with the pITP group, the CTD-TP group had a significantly older age of onset and significantly lower leukocyte count, eosinophil count, lymphocyte count, and complement C4 level (P<0.05), as well as significantly higher levels of C-reactive protein, IgE, and IgM (P<0.05). The logistic regression analysis showed that age, IgE, IgM, total B cells, and complement C4 were predictive factors for early differentiation between pITP and CTD-TP (P<0.05). The receiver operating characteristic curve analysis showed that a combination of these five factors had a good discriminative validity, with an area under the curve of 0.944. The correlation analysis showed a negative correlation between IgG and platelet count in the pITP group (rs=-0.363, P<0.05) and a positive correlation between NK cells and platelet count in the CTD-TP group (rs=0.713, P<0.05).
CONCLUSIONS
There is heterogeneity in the clinical and immunological indicators between children with pITP and CTD-TP at initial diagnosis, and these research findings can help with the early differentiation between the two diseases.
Purpura, Thrombocytopenic, Idiopathic/immunology*
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Diagnosis, Differential
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Connective Tissue Diseases/immunology*
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Retrospective Studies
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Early Diagnosis
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Age of Onset
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Leukocyte Count
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Complement C4/immunology*
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C-Reactive Protein/immunology*
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Immunoglobulin E/immunology*
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Immunoglobulin M/immunology*
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Humans
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Male
;
Female
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Infant
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Child, Preschool
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Child
;
Adolescent
;
Biomarkers/blood*

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