1.Analysis of serological and molecular genetic characteristics of a Chinese pedigree with a B(A)06 subtype.
Dongdong TIAN ; Ding ZHAO ; Wei LI ; Zhihao LI ; Jiali YANG ; Yongfang ZHANG ; Liuchuang ZHENG
Chinese Journal of Medical Genetics 2026;43(3):220-227
OBJECTIVE:
To explore the serological and molecular genetic characteristics of a family with subtype B(A)06.
METHODS:
A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036).
RESULTS:
The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family.
CONCLUSION
The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans
;
ABO Blood-Group System/genetics*
;
Female
;
Pedigree
;
Male
;
Infant, Newborn
;
Asian People/genetics*
;
Genotype
;
China
;
Blood Grouping and Crossmatching
;
Hyperbilirubinemia, Neonatal/blood*
;
East Asian People
2.Association between sunshine duration and hospitalization risk for mental and behavioral disorders in Zigong City, Sichuan Province
Xianyan JIANG ; Fengyuan TIAN ; Yang LI ; Shijuan RUAN ; Yue WEN ; Chunli SHI
Journal of Environmental and Occupational Medicine 2026;43(4):485-492
Background Sunshine duration is closely associated with population mental health and emotional states, although its relationship with mental and behavioral disorders (MBD) remains insufficiently studied. Objective To analyze the effect of sunshine duration on hospital admissions for MBD in Zigong City, Sichuan Province. Methods Hospital admission records for MBD from 10 medical institutions, meteorological data, and ambient air pollutant concentrations were collected in Zigong City from January 1, 2019 to December 31, 2024. A distributed lag non-linear model (DLNM) was employed to calculate single-day and cumulative lag effects of different sunshine duration exposures—0 h (P0, P5, P25), 6 h (P75), and 10.4 h (P95)—on hospitalization risks for MBD, stratified by diagnostic category, sex, and age groups. Results This study analyzed
3.MRI findings of spinal cord atrophy after spinal cord injury in children and their injury level
Yingxin ZHANG ; Genlin LIU ; Di CHEN ; Hongxia ZHANG ; Yifan TIAN ; Yiji WANG ; Yang JING ; Ruidong CHENG ; Shaomin ZHANG ; Jiafeng YAO ; Bo SUN ; Xiaomeng SUN
Chinese Journal of Rehabilitation Theory and Practice 2026;32(4):387-392
ObjectiveTo delineate imaging findings using an imaging platform and investigate the correlation between MRI characteristics of spinal cord atrophy and clinical diagnosis in children with spinal cord injury (SCI). MethodsImaging data of 150 children with SCI admitted to Beijing Bo'ai Hospital, China Rehabilitation Research Center, from January, 2002 to March, 2024 were collected and imported into the imaging platform. The anteroposterior and transverse diameters of the middle part of the spinal cord at the cross-section with the most severe atrophy were measured, and the relevant indicators of the previous normal spinal cord segment were measured as controls; the radiomic features were extracted. Clinical data of the children including gender, age, cause of injury, sensory level, motor level, spinal cord injury level, injury severity and disease course were collected. ResultsSpinal cord atrophy was identified in 81 cases (54%), among which 78 cases (96%) were American Spinal Injury Association Impairment Scale (AIS) grade A and 3 cases (4%) were AIS grade C. The upper boundary of the spinal cord atrophy site strongly correlated with the injury level, motor level and sensory level (r > 0.8, P < 0.001). ConclusionMore than half of children with SCI may develop secondary spinal cord atrophy, the vast majority of whom suffer from complete spinal cord injury; the upper boundary of spinal cord atrophy is correlated with the injury level.
4.Fibroblast Growth Factors in Parkinson’s Disease: Multi-target Neuroprotective Mechanisms Involving Neuroinflammation, Cellular Stress, and Ferroptosis
Hui WANG ; Zi-Gui ZHOU ; Teng-Teng HAN ; Chang-Zhi YANG ; Xue-Wen TIAN
Progress in Biochemistry and Biophysics 2026;53(4):855-874
Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by the selective loss of dopaminergic neurons in the substantia nigra pars compacta and the pathological accumulation ofα‑synuclein. Although extensive progress has been made in elucidating its pathogenesis, current therapeutic approaches remain largely symptomatic, and effective disease-modifying treatments are still unavailable. Increasing evidence indicates that PD is driven by the interaction of multiple pathological processes, including neuroinflammation, iron homeostasis dysregulation and ferroptosis, endoplasmic reticulum (ER) stress, mitochondrial dysfunction, oxidative stress, and impaired protein homeostasis, which together contribute to neuronal vulnerability and degeneration. Fibroblast growth factors (FGFs) comprise a family of 22 ligands that play important roles in neural development, stress responses, metabolic regulation, and the maintenance of nervous system homeostasis. Recent studies have shown that several FGF family members, such as FGF1, FGF2, FGF9, and FGF21, exert neuroprotective effects in cellular and animal models of PD. These effects include the regulation of inflammatory responses, oxidative stress, iron homeostasis, cellular stress adaptation, and neuronal survival. Compared with therapeutic strategies targeting a single pathogenic pathway, FGFs appear to influence multiple disease-related processes, suggesting their potential relevance to the complex pathophysiology of PD. Experimental evidence indicates that altered FGF signaling may contribute to dopaminergic neuron dysfunction through the coordinated regulation of several interconnected mechanisms. FGFs have been reported to modulate neuroinflammation by affecting the activation of microglia and astrocytes, thereby influencing the inflammatory environment in the central nervous system. In addition, FGFs are involved in the regulation of iron homeostasis and ferroptosis, partly through antioxidant signaling pathways associated with NRF2, SLC7A11, and GPX4. Moreover, FGFs can alleviate ER stress and mitochondrial dysfunction by activating intracellular signaling pathways such as PI3K/AKT, AMPK-PGC-1α, as well as SIRT1-dependent programs, which support cellular energy metabolism and redox balance. Recent advances in single-cell and spatial transcriptomic studies further suggest that FGF signaling is not limited to neuron-intrinsic mechanisms but also involves interactions among different glial cell types. Altered FGF ligand-receptor communication between astrocytes and oligodendrocytes has been observed in PD models and is associated with increased susceptibility of dopaminergic neurons to oxidative stress and ferroptosis. These findings indicate that the biological effects of FGFs are influenced by cell type and disease stage and may vary under different pathological conditions. In this review, we summarize recent progress in understanding the roles of FGF family members in PD, with a focus on their involvement in iron homeostasis dysregulation and ferroptosis, neuroinflammation, cellular stress responses, and neuronal protection and regeneration. By integrating current evidence, this review aims to provide a clearer understanding of how FGFs participate in PD pathogenesis and to offer a theoretical basis for future studies exploring their potential value in disease-modifying therapeutic strategies.
5.Compact Fundus Imaging System Using Shack-Hartmann Wavefront Sensing for High-speed Auto-focus
Zhe-Kai LIN ; Long CHEN ; Geng-Yong ZHENG ; Jin-Tian HUANG ; Jia-Xin DONG ; Shang-Pan YANG ; Wen-Zheng DING ; Ding-An HAN ; Xue-Hua WANG ; Ya-Guang ZENG
Progress in Biochemistry and Biophysics 2026;53(4):1076-1086
ObjectiveThe widespread adoption of portable fundus cameras for primary care and community screening is hindered by limitations in current autofocus(AF) technologies. Image-based methods relying on sharpness evaluation require iterative searches, resulting in slow convergence, while projection-based techniques are susceptible to optical artifacts and calibration errors. To address these challenges, this study introduces a novel AF system based on direct wavefront sensing, designed to deliver simultaneous high speed, high precision, and operational robustness within the compact form factor essential for portable ophthalmic devices. MethodsOur approach fundamentally reimagines the AF process by directly measuring the ocular wavefront aberration. We developed a custom portable fundus camera integrating a miniaturized Shack-Hartmann wavefront sensor (SHWS) into the optical path. An 850 nm laser diode projects a point source onto the retina via oblique illumination to minimize corneal reflections. Light scattered from this spot carries the eye’s refractive error through the imaging optics and is directed to the SHWS, positioned at a plane optically conjugate to the primary color CMOS imaging sensor. A microlens array within the SHWS samples the incident wavefront, generating a pattern of focal spots on a CCD. Real-time centroid analysis of these spots provides a map of local wavefront slopes. These measurements are processed through a singular value decomposition (SVD) algorithm to fit a Zernike polynomial basis set, enabling real-time reconstruction of the wavefront phase. The defocus component (S) is extracted from the second-order Zernike coefficients, providing a direct, quantitative measure of the refractive error in diopters. This value serves as a precise error signal in a closed-loop control system, which commands a voice-coil actuated focusing lens to its null position in a single, deterministic step, eliminating the need for iterative search algorithms. ResultsComprehensive evaluation demonstrated the system’s high performance. Testing on a calibrated model eye (OEMI-7) established a highly linear relationship between the computed defocus S and the focusing lens position across a ±20 Diopter (D) compensation range, achievable within a 5 mm mechanical travel. The system achieved a focusing precision of 0.08 D, corresponding to an 18-fold improvement over a conventional projection spot-size method tested under identical conditions. The total focus acquisition time, encompassing wavefront measurement, computation, and lens actuation, averaged under 0.5 s. Clinical validation with 25 human volunteers (50 eyes, refractive range -15 D to +10 D) confirmed practical efficacy. The wavefront-sensing AF succeeded in 92% of attempts with a mean time of 0.5 s, substantially outperforming a projection-based benchmark which achieved only a 32% success rate with an average time of 4.25 s. The system provided instantaneous directional guidance and maintained stability during minor ocular movements. Objective assessment of image quality, via amplitude contrast of retinal vasculature, showed consistent and significant enhancement following AF correction across the entire tested diopter range. ConclusionThis work successfully implements and validates a direct wavefront-sensing autofocus paradigm for portable fundus cameras. By directly quantifying and compensating for the optical defocus aberration, this method bypasses the fundamental limitations of image-processing and projection-based techniques, enabling rapid, precise, and deterministic diopter compensation. The developed system delivers an exceptional combination of a wide operational range (±20 D), high accuracy (0.08 D), fast convergence (0.5 s), and a compact physical footprint. This technology provides a practical and high-performance focusing solution capable of enhancing the reliability, throughput, and diagnostic utility of portable retinal imaging in large-scale screening applications. Future efforts will be directed towards system cost optimization and performance adaptation for diverse ocular conditions.
6.Comparison of clinical efficiency between neuroendoscope-assisted evacuation and navigation-assisted puncture in treating thalamic hemorrhage breaking into the ventricle
Yonghui HUANG ; Yang GAO ; Chen LI ; Puyuan ZHAO ; Tian HUAI ; Rujiang BAI ; Xuefu WANG
Chinese Journal of Clinical Medicine 2026;33(1):108-112
Objective To compare the clinical efficacy of neuroendoscope-assisted evacuation and navigation-assisted puncture drainage in treating thalamic hemorrhage breaking into the ventricle. Methods A retrospective analysis was conducted on the clinical data of 93 patients with thalamic hemorrhage breaking into the ventricle at Taihe Hospital of Wannan Medical College between January 2022 and February 2024. The patients received neuroendoscope-assisted removal of thalamic hematoma combined with contralateral extraventricular drainage (n=44, neuroendoscope group) and navigation-assisted thalamic hematoma puncture drainage combined with contralateral extraventricular drainage (n=49, navigation group), respectively. The treatment efficacy, surgical situation, and prognosis between the two groups were compared. Results The neuroendoscope group had longer operation duration, more intraoperative blood loss, higher hospitalization costs than the navigation group (P<0.05). The neuroendoscope group had higher hematoma clearance rate 3rd after surgery and shorter length of stay than the navigation group (P<0.05). There was no significant difference in the incidence of intracranial infection after surgery between the two groups. The neuroendoscope group had higher Glasgow coma scale (GCS) score at 1 week after surgery and Glasgow outcome scale (GOS) score at 3 months after surgery (P<0.01). Conclusions Compared with navigation-assisted puncture, neuroendoscope-assisted evacuation can improve the thalamic hemorrhage clearance rate, shorten the length of stay, and improve the prognosis of patients.
7.Current Status,Strategies and Prospects of Traditional Chinese Medicine Diagnosis and Treatment for Irritable Bowel Syndrome
Yandong WEN ; Zhi YANG ; Shaogang HUANG ; Zhongyu LI ; Xiangxue MA ; Qing XU ; Liqing DU ; Bochao YUAN ; Yibing TIAN ; Wentong GE ; Xiaofan ZHAO ; Chang LIU ; Xudong TANG
Journal of Traditional Chinese Medicine 2026;67(4):404-409
Irritable bowel syndrome (IBS) is a functional bowel disorder characterized primarily by abdominal pain and altered defecation habits. In recent years, traditional Chinese medicine (TCM) has made progress in multiple aspects of IBS research and treatment, including syndrome distribution, development of TCM formulas, clinical efficacy evaluation, external therapies, and psychosocial regulation. However, it still faces challenges such as over-reliance on symptomatic manifestations rather than biomarkers for diagnostic criteria, and the lack of high-quality evidence-based data supporting the efficacy of TCM formulas in treating IBS. This paper proposed that TCM diagnosis and treatment of IBS should adhere to the strategy of integrating the holistic concept with syndrome differentiation and treatment, combining TCM external therapies such as acupuncture, moxibustion and acupoint application), and emphasizing individualized diagnosis and treatment for psychosomatic abnormalities. Future research should integrate multi-omics technologies, artificial intelligence and other methods to deepen the understanding of the pathogenesis of IBS and the mechanisms of TCM formulas, so as to promote the standardization and internationalization of TCM in the diagnosis and treatment of IBS.
8.Current Status and Prospects of Research on Traditional Chinese Medicine Prevention and Treatment for Gastric Precancerous Lesions
Haiyan BAI ; Tai ZHANG ; Ping WANG ; Lin LIU ; Weichao XU ; Yaxin TIAN ; Lanshuo HU ; Qian YANG ; Xudong TANG
Journal of Traditional Chinese Medicine 2026;67(4):410-415
Traditional Chinese medicine (TCM), through its multi-target and systematic regulatory effects, has demonstrated unique advantages in the treatment of gastric precancerous lesions (GPL). At present, TCM theoretical research on GPL is mainly reflected in three aspects, the integration of macroscopic syndrome differentiation, the inflammation-carcinoma transformation mechanism, as well as the systematization and scientization of theoretical inheritance from famous TCM practitioners. High-quality evidence-based research findings serve as the foundation for clinical practice guidelines on GPL, and TCM has gained international academic recognition in the field of GPL prevention and treatment. Research on TCM mechanisms has yielded a series of important outcomes in the aspects of signaling pathways, gene expression regulation, cellular epigenetics, histone modification, and intestinal microecology. It is proposed that future research on GPL should focus on four key directions, establishing multi-omics data, exploring targeted intervention strategies on key regulatory nodes, advancing the standardization process of integrated traditional Chinese and western medicine prevention and treatment technologies, and constructing stratified screening and intervention platforms. The in-depth integration of TCM microcosmic mechanism of action with its macroscopic syndrome differentiation and treatment system, coupled with interdisciplinary research, will provide valuable references for the clinical treatment and scientific research of GPL.
9.Application of optimized combination prediction model in the prediction of hand, foot and mouth disease
Weijie TIAN ; Qian GAO ; Kun YANG ; Zhirong ZHAO ; Jian CHEN
Journal of Public Health and Preventive Medicine 2026;37(1):58-62
Objective To explore scientific and accurate prediction methods for the incidence of hand, foot, and mouth disease in the post-pandemic era, and to address modeling challenges caused by abnormal fluctuations in case numbers from 2020 to 2023. Methods The seasonal index was used to pre-process the data. The traditional seasonal autoregressive integrated moving average (SARIMA) model, singular spectrum analysis (SSA)-ARIMA model, ARIMA-Long short-term memory (LSTM) model, and SSA-ARIMA-LSTM model were used to fit the incidence from 2013 to 2023, and the incidence of hand, foot and mouth disease in 2024 was predicted. The real data collected in 2024 were used as the test set to compare the prediction performance of the models. Results The fitting performance of the constructed models was as follows: the ARIMA model had MAE=107.50 and RMSE=144.53, the SSA-ARIMA model showed MAE=2.84 and RMSE=4.33, the ARIMA-LSTM model achieved MAE=99.46 and RMSE=131.59, and the SSA-ARIMA-LSTM model had MAE=96.35 and RMSE=132.13. In terms of prediction performance, the ARIMA model resulted in MAE=151.64 and RMSE=146.70, the SSA-ARIMA model demonstrated MAE=41.22 and RMSE=57.01, the ARIMA-LSTM model yielded MAE=220.75 and RMSE=257.89, and the SSA-ARIMA-LSTM model recorded MAE=58.83 and RMSE=72.06. Conclusion The SSA-ARIMA model has the best fitting degree and the highest prediction accuracy, and is suitable for predicting the incidence trend of hand, foot and mouth disease.
10.Exploring on Quality Evaluation Methods of Clinical Case Reports in Traditional Chinese Medicine Based on China Clinical Cases Library of Traditional Chinese Medicine
Kaige ZHANG ; Feng ZHANG ; Bo ZHOU ; Haimin CHEN ; Yong ZHU ; Changcheng HOU ; Liangzhen YOU ; Weijun HUANG ; Jie YANG ; Guoshuang ZHU ; Shukun GONG ; Jianwen HE ; Yang YE ; Yuqiu AN ; Chunquan SUN ; Qingjie YUAN ; Buman LI ; Xingzhong FENG ; Kegang CAO ; Hongcai SHANG ; Jihua GUO ; Xiaoxiao ZHANG ; Zhining TIAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(1):271-276
As the core vehicle for preserving and transmitting traditional Chinese medicine(TCM) academic thought and clinical experience, the establishment of a robust quality evaluation system for TCM clinical case reports is a crucial component in the current standardization and modernization of TCM. Based on the practical experience of constructing the China Clinical Cases Library of Traditional Chinese Medicine by the China Association of Chinese Medicine, this study conducted a comprehensive analysis of critical challenges, including insufficient authenticity and unfocused evaluation criteria. It proposed a three-dimensional evaluation framework grounded in the structure-process-outcome logic, encompassing three dimensions of authenticity and standardization, characteristics and advantages, application and translational impact. This framework integrated 12 key evaluation indicators in a systematic manner. The model preserved the academic characteristics of TCM syndrome differentiation and treatment, while aligning with modern scientific research standards, achieving a balance between individualized TCM experience and standardized evaluation. Concurrently, this study provided theoretical foundations and methodological guidance for evaluating the quality of TCM clinical cases, contributing significantly to the inheritance of TCM knowledge, evidence-based practice, and the reform of talent evaluation mechanisms.


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