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
;
Liver Failure, Acute/therapy*
;
Infant
;
Diagnosis, Differential
2.The role of free triiodothyronine to free thyroxine ratio in the differential diagnosis of thyrotoxicosis: A cross-sectional study
Menon Saieehwaran ; Sy Liang Yong ; Vijiya Mala Velayutham ; Jason Tan Seng Hong ; Avni Patel ; Zienna Zufida binti Zainol Rashid ; Hanisah Abdul Hamid ; Salbiah binti Mohd Isa ; Li Vern Lim
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):11-
Introduction:
Accurate diagnosis of thyrotoxicosis, a condition resulting from excessive thyroid hormone activity, is essential for
appropriate management. However, access to diagnostic tools such as thyrotropin receptor antibody (TRAb) assays
and thyroid ultrasonography remains limited in resource-constrained settings, highlighting the need for cost-effective
alternatives. Recent studies suggest that the free triiodothyronine to free thyroxine (FT3/FT4) ratio may serve as a potential
biomarker for differentiating the causes of thyrotoxicosis.
Methodology:
This cross-sectional study evaluated the FT3/FT4 ratio in newly diagnosed thyrotoxicosis patients aged ≥18 years recruited
from Hospital Tengku Ampuan Rahimah, Hospital Banting, Klinik Kesihatan Pelabuhan Klang, and Klinik Kesihatan
Pandamaran between February and December 2025. All participants underwent thyroid function testing (FT3, FT4, and
TSH) and autoantibody assessment (TRAb and anti-thyroid peroxidase [anti-TPO]). Diagnostic performance of the FT3/FT4
ratio for Graves’ disease was assessed using receiver operating characteristic (ROC) curve analysis.
Results:
Fifty-eight patients were included, of whom 58.6% were diagnosed with Graves’ disease. Patients with Graves’ disease had
significantly higher FT3 levels (median 16.8 pmol/L; IQR 10.9–25.7) compared to those with non-Graves’ thyrotoxicosis
(median 8.3 pmol/L; IQR 5.3–13.5; p <0.001), with similar trends observed for FT4 levels (p <0.001). However, the FT3/
FT4 ratio did not differ significantly between groups (p >0.05), with an overall ROC AUC of 0.572, indicating poor
discriminatory ability. Subgroup analysis based on FT4 levels improved performance; at FT4 <30 pmol/L, the FT3/FT4
ratio demonstrated 75.0% sensitivity, 91.7% specificity, and 87.5% diagnostic accuracy at a cutoff of 0.3445 (AUC = 0.813;
95% CI: 0.570–1.000; p = 0.069). No significant association was observed between the FT3/FT4 ratio and TRAb or anti-TPO.
Conclusion
The FT3/FT4 ratio has limited overall diagnostic utility but may provide adjunctive value in selected biochemical
contexts, particularly in settings with limited access to immunological testing.
Diagnosis, Differential
;
Thyroxine
;
Triiodothyronine
;
Thyrotoxicosis
;
Cross-Sectional Studies
3.Diagnostic yield and safety of pancreatic cystic lesions: A comparison between EUS-FNA and EUS-FNB.
Xiaoyu YU ; Mingmei YE ; Yawen NI ; Qianqi LIU ; Pan GONG ; Yuanyuan HUANG ; Xiaoyan WANG ; Li TIAN
Journal of Central South University(Medical Sciences) 2025;50(2):227-236
OBJECTIVES:
In recent years, the incidence and detection rate of pancreatic cystic lesions (PCLs) have increased significantly. Endoscopic ultrasound (EUS) plays an indispensable role in the diagnosis and differential diagnosis of PCLs. However, evidence comparing the diagnostic performance of EUS-guided fine-needle aspiration (EUS-FNA) and fine-needle biopsy (FNB) remains limited. This study aims to compare the diagnostic yield, adequacy of tissue acquisition, and safety between EUS-FNA and EUS-FNB in evaluating PCLs to inform clinical practice.
METHODS:
A retrospective review was conducted on patients with PCLs who underwent either EUS-FNA or EUS-FNB between January 2014 and August 2021. The diagnostic yield, tissue acquisition adequacy, and incidence of adverse events were compared between the 2 groups.
RESULTS:
A total of 90 patients with PCLs were included (52 in the FNA group and 38 in the FNB group). The diagnostic yield was similar between the FNA and FNB groups (94.2% vs 94.7%, P>0.05). The adequacy of tissue acquisition was 71.2% in the FNA group and 81.6% in the FNB group (P>0.05). No statistically significant difference was observed in the incidence of adverse events between the 2 groups (P>0.05).
CONCLUSIONS
Both EUS-FNA and EUS-FNB demonstrate equally high diagnostic yields and tissue adequacy in PCLs, with excellent safety profiles. Both methods are safe and effective diagnostic tools for evaluating PCLs.
Humans
;
Endoscopic Ultrasound-Guided Fine Needle Aspiration/adverse effects*
;
Retrospective Studies
;
Female
;
Male
;
Pancreatic Cyst/diagnostic imaging*
;
Middle Aged
;
Biopsy, Fine-Needle/adverse effects*
;
Aged
;
Pancreatic Neoplasms/diagnosis*
;
Adult
;
Endosonography/methods*
;
Pancreas/pathology*
;
Diagnosis, Differential
4.Characteristics and differential diagnosis of common verrucous proliferative skin diseases under dermoscopy and reflectance confocal microscopy.
Lu ZHOU ; Yule FU ; Jian HUANG ; Zhen TANG ; Jianyun LU ; Lina TAN ; Dan WANG ; Jinrong ZENG ; Jia WANG ; Lihua GAO
Journal of Central South University(Medical Sciences) 2025;50(3):358-365
OBJECTIVES:
Verrucous epidermal nevus (VEN), seborrheic keratosis (SK), verruca plana (VP), verruca vulgaris (VV), and nevus sebaceous (NS) are common verrucous proliferative skin diseases with similar clinical appearances, often posing diagnostic challenges. Dermoscopy and reflectance confocal microscopy (RCM) can aid in their differentiation, yet their specific features under these tools have not been systematically described. This study aims to summarize and analyze the dermoscopic and RCM features of VEN, SK, VP, VV, and NS.
METHODS:
A total of 121 patients with histopathologically confirmed verrucous proliferative skin diseases were enrolled. Dermoscopy and RCM imaging was used to observe and analyze the microscopic features of these conditions.
RESULTS:
Under dermoscopy, the 5 diseases displayed distinct characteristics: VEN typically showed gyriform structures; SK was characterized by gyriform structures, comedo-like openings, and milia-like cysts; VP and VV featured dotted vessels and frogspawn-like structures; NS presented as brownish-yellow globules. RCM revealed shared features such as hyperkeratosis and acanthosis across all 5 diseases. Specific features included gyriform structures and elongated rete ridges in VEN; pseudocysts and gyriform structures in SK; evenly distributed ring-like structures in VP; vacuolated cells and papillomatous proliferation in VV; and frogspawn-like structures in NS.
CONCLUSIONS
These 5 verrucous proliferative skin conditions exhibit distinguishable features under both dermoscopy and RCM. The combination of these 2 noninvasive imaging modalities holds significant clinical value for the differential diagnosis of verrucous proliferative skin diseases.
Humans
;
Dermoscopy/methods*
;
Diagnosis, Differential
;
Microscopy, Confocal/methods*
;
Male
;
Female
;
Adult
;
Middle Aged
;
Adolescent
;
Keratosis, Seborrheic/pathology*
;
Young Adult
;
Warts/diagnosis*
;
Child
;
Aged
;
Skin Diseases/pathology*
;
Nevus, Sebaceous of Jadassohn/diagnosis*
;
Skin Neoplasms/diagnosis*
;
Child, Preschool
5.Diagnostic value of reflectance confocal microscopy in papular dermatoses of the female vulva.
Zhen TANG ; Lingxue HU ; Yu RAO ; Ruijian REN ; Shu DING
Journal of Central South University(Medical Sciences) 2025;50(3):366-372
OBJECTIVES:
Papular dermatoses commonly affecting the female vulva, such as molluscum contagiosum, syringoma, lymphangioma, folliculitis, verruca vulgaris, ectopic sebaceous glands, and bowenoid papulosis, often present with similar clinical appearances and are frequently misdiagnosed. This study aims to explore the clinical diagnostic value of reflectance confocal microscopy (RCM) in differentiating these conditions.
METHODS:
A retrospective analysis was conducted on RCM imaging and histopathological findings from lesion sites in 172 female patients with vulval papular dermatoses. RCM characteristics confirmed by biopsy were summarized and diagnostic clues were explored.
RESULTS:
RCM diagnosis was consistent with histopathological diagnosis in 147 out of 172 cases (85.47%). Molluscum contagiosum, syringoma, lymphangioma, and folliculitis all exhibited cystic-like structures under RCM, differing in the location of the structures, wall characteristics, internal contents, and reflectivity. Verruca vulgaris, ectopic sebaceous glands, and bowenoid papulosis lacked such structures. Verruca vulgaris showed distinctive low-refractive vacuolated cells in the spinous layer; bowenoid papulosis exhibited mild cytologic atypia in the spinous layer; ectopic sebaceous glands were characterized by moderately to low-refractive, fish roe-like sebaceous lobules within the dermis.
CONCLUSIONS
RCM enables noninvasive, real-time, and dynamic visualization of key diagnostic and differential features of common vulvar papular dermatoses in women, offering high diagnostic value.
Humans
;
Female
;
Microscopy, Confocal/methods*
;
Retrospective Studies
;
Adult
;
Vulvar Diseases/diagnosis*
;
Middle Aged
;
Young Adult
;
Aged
;
Adolescent
;
Diagnosis, Differential
;
Child
;
Skin Diseases/pathology*
;
Molluscum Contagiosum/diagnosis*
6.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
;
Vestibular Diseases/diagnosis*
;
Vertigo/diagnosis*
;
Diagnosis, Differential
;
Nystagmus, Pathologic/diagnosis*
;
Acute Disease
7.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
;
Retrospective Studies
;
Lymphoma, Extranodal NK-T-Cell/diagnosis*
;
Lymphoma, Large B-Cell, Diffuse/pathology*
;
Nasal Cavity/pathology*
;
Male
;
Diagnosis, Differential
;
Female
;
Middle Aged
;
Nose Neoplasms/diagnosis*
;
Adult
;
Aged
8.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
;
Nasopharyngeal Carcinoma/diagnostic imaging*
;
Deep Learning
;
Magnetic Resonance Imaging
;
Retrospective Studies
;
Nasopharyngeal Neoplasms/diagnostic imaging*
;
Lymphoma/diagnostic imaging*
;
Diagnosis, Differential
;
ROC Curve
;
Male
;
Female
;
Middle Aged
;
Adult
9.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
;
Humans
;
Medicine, Chinese Traditional
;
Acupuncture Therapy
;
Diagnosis, Differential
;
History, Ancient
;
Acupuncture Points
;
Medicine in Literature
10.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
;
Acupuncture Therapy/history*
;
Tic Disorders/diagnosis*
;
Acupuncture Points
;
Meridians
;
Diagnosis, Differential
;
China


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