Objective:To investigate the clinical manifestations and genetic characteristics of a child with glycogen storage disease type Ⅲ (GSD-Ⅲ) complicated with Guillain-Barré syndrome (GBS) caused by AGL gene variants, and to analyze the pathogenesis, potential correlation, treatment and prognosis of the two diseases. Methods:A child with GSD-Ⅲ who visited the General Hospital of Ningxia Medical University due to " limb weakness for more than ten days" in July 2024 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected for whole exome sequencing and Sanger sequencing. Candidate variants were verified, and pathogenicity analysis was conducted for the variant sites. This study was approved by the Medical Ethics Committee of General Hospital of Ningxia Medical University (Ethics No.: KYLL-2025-1984).Results:The child has presented with inability to stand or walk independently, difficulty in grasping, accompanied by numbness and pain at the distal end, choking when drinking water, occasional non-projectile vomiting, and enlargement of liver and spleen. Laboratory tests showed abnormal liver function and a significant increase in creatine kinase. Color Doppler ultrasound of the heart showed an enlarged left atrium and mild regurgitation of mitral and tricuspid valves. Genetic testing confirmed that he has harbored compound heterozygous variants of the AGL gene, namely c. 1611G>A (p.E537E) and c. 579del (p.W194Gfs*7), which were inherited from his father and mother, respectively. According to the guidelines from the American Collage for Medical Genetics and Genomics (ACMG), the two variants were respectively predicted as variant of unknown significance (PM2_Supporting+ PM3+ PP3_Supporting) and likely pathogenic (PVS1+ PM2_Supporting). Electrophysiological examination confirmed that the child had severe damage to the motor and sensory nerves accompanied by axonal injury, which was consistent with the axonal variant type of GBS -acute motor and sensory axonal neuropathy. After a clear diagnosis, the child was treated with intravenous human immunoglobulin. His condition deteriorated progressively, presenting with breathing difficulties, liver failure, and gastrointestinal bleeding, and eventually deceased due to multiple organ failures. Conclusion:The etiology of GSD-Ⅲ and GBS involves multiple aspects such as genetics, metabolism and immunity. In clinical practice, it should be noted that similar clinical manifestations may occur in both conditions. Close attention should be paid to the patients′ blood glucose, blood gas, coagulation function and liver function, etc. Clinical intervention should be carried out as early as possible to improve the prognosis.

OBJECTIVE: To investigate the clinical manifestations and genetic characteristics of a child with glycogen storage disease type III (GSD-III) complicated with Guillain-Barré syndrome (GBS) caused by AGL gene variants, and to analyze the pathogenesis, potential correlation, treatment and prognosis of the two diseases. METHODS: A child with GSD-III who visited the General Hospital of Ningxia Medical University due to "limb weakness for more than ten days" in July 2024 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected for whole exome sequencing and Sanger sequencing. Candidate variants were verified, and pathogenicity analysis was conducted for the variant sites. This study was approved by the Medical Ethics Committee of General Hospital of Ningxia Medical University (Ethics No.: KYLL-2025-1984). RESULTS: The child has presented with inability to stand or walk independently, difficulty in grasping, accompanied by numbness and pain at the distal end, choking when drinking water, occasional non-projectile vomiting, and enlargement of liver and spleen. Laboratory tests showed abnormal liver function and a significant increase in creatine kinase. Color Doppler ultrasound of the heart showed an enlarged left atrium and mild regurgitation of mitral and tricuspid valves. Genetic testing confirmed that he has harbored compound heterozygous variants of the AGL gene, namely c.1611G>A (p.E537E) and c.579del (p.W194Gfs*7), which were inherited from his father and mother, respectively. According to the guidelines from the American Collage for Medical Genetics and Genomics (ACMG), the two variants were respectively predicted as variant of unknown significance (PM2_Supporting+PM3+PP3_Supporting) and likely pathogenic (PVS1+PM2_Supporting). Electrophysiological examination confirmed that the child had severe damage to the motor and sensory nerves accompanied by axonal injury, which was consistent with the axonal variant type of GBS -acute motor and sensory axonal neuropathy. After a clear diagnosis, the child was treated with intravenous human immunoglobulin. His condition deteriorated progressively, presenting with breathing difficulties, liver failure, and gastrointestinal bleeding, and eventually deceased due to multiple organ failures. CONCLUSION The etiology of GSD-III and GBS involves multiple aspects such as genetics, metabolism and immunity. In clinical practice, it should be noted that similar clinical manifestations may occur in both conditions. Close attention should be paid to the patients' blood glucose, blood gas, coagulation function and liver function, etc. Clinical intervention should be carried out as early as possible to improve the prognosis.
Humans ; Male ; Guillain-Barre Syndrome/complications* ; Glycogen Storage Disease Type III/complications* ; Mutation ; Child

Objective:To explore the application value of radiomics models based on MRI of vertebrae and paravertebral muscles in identifying potential vertebral fragility fracture risk in osteoporosis and osteopenia.Methods:This cross-sectional study collected data from patients who underwent both dual-energy X-ray absorptiometry (DXA) and lumbar MRI at the Third Affiliated Hospital of Southern Medical University between January 2014 and December 2023,retrospectively. Based on DXA results, patients were categorized into osteoporosis group ( n=302) and osteopenia group ( n=264), with fracture and non-fracture patients matched at 1∶1 ratio by propensity score matching based on age, gender, and body mass index. The fourth lumbar vertebra was selected as the region of interest (ROI) for the vertebral body, and the bilateral psoas major, erector spinae, and multifidus muscles were selected as the ROIs for the paraspinal muscles. A total of 7 259 radiomics features were extracted from these ROIs. The dataset was divided into a training set and a test set in an 8∶2 ratio by simple random sampling (osteoporosis group 241 and 61 cases, osteopenia group 211 and 53 cases). The T-score was used to establish the clinical model. After feature normalization and dimensionality reduction, logistic regression was applied to build three radiomics models: vertebral model, paraspinal muscle model, and vertebral-paraspinal muscle model. The T-score was then combined with the radiomics model that achieved the highest area under the receiver operating characteristic curve (AUC) in the test set to construct a clinical-radiomics combined model. Model performance was evaluated using the AUC. The DeLong test was used to compare the diagnostic efficacy between models. Results:In the test set, the vertebral-paravertebral muscle model achieved the highest AUC among radiomics models and was selected for combination with the T-score. In identifying potential vertebral fragility fractures of osteoporosis group, the AUC (95% CI) of the clinical model, vertebral model, paraspinal muscle model, vertebral-paraspinal muscle model, and clinical-radiomics model were 0.523 (0.373-0.672), 0.869 (0.779-0.959), 0.608 (0.464-0.752), 0.876 (0.791-0.961), and 0.860 (0.769-0.952), respectively. For osteopenia group, the corresponding AUC(95% CI) were 0.625 (0.467-0.783), 0.696 (0.547-0.845), 0.706 (0.563-0.848), 0.816 (0.702-0.930), and 0.820 (0.710-0.930). The DeLong test showed that the vertebral model for identifying the potential vertebral fracture risk in osteoporosis group had better performance than the paraspinal muscle model ( Z=3.28, P=0.001). While for osteopenia group, there was no significant difference in diagnostic performance between the vertebral model and the paraspinal muscle model ( Z=0.09, P=0.932). The recognition efficacy of the clinical model and the vertebral-paraspinal muscle model was significantly different ( Z=3.69, 1.98; P<0.001, P=0.047), while there was no significant difference between the clinical-radiomics combined model and the vertebral-paraspinal muscle model ( Z=1.51, 0.12; P=0.131, 0.904). Conclusion:The MRI-based vertebral-paraspinal muscle radiomics model can effectively identify osteoporosis or osteopenia patients with potential fragility fracture risk. In osteopenia group, the efficacy of the MRI radiomics models based on the vertebra and paraspinal muscles in identifying potential vertebral fragility fracture risk is comparable.

Objective:To investigate the clinical manifestations and genetic characteristics of a child with glycogen storage disease type Ⅲ (GSD-Ⅲ) complicated with Guillain-Barré syndrome (GBS) caused by AGL gene variants, and to analyze the pathogenesis, potential correlation, treatment and prognosis of the two diseases. Methods:A child with GSD-Ⅲ who visited the General Hospital of Ningxia Medical University due to " limb weakness for more than ten days" in July 2024 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected for whole exome sequencing and Sanger sequencing. Candidate variants were verified, and pathogenicity analysis was conducted for the variant sites. This study was approved by the Medical Ethics Committee of General Hospital of Ningxia Medical University (Ethics No.: KYLL-2025-1984).Results:The child has presented with inability to stand or walk independently, difficulty in grasping, accompanied by numbness and pain at the distal end, choking when drinking water, occasional non-projectile vomiting, and enlargement of liver and spleen. Laboratory tests showed abnormal liver function and a significant increase in creatine kinase. Color Doppler ultrasound of the heart showed an enlarged left atrium and mild regurgitation of mitral and tricuspid valves. Genetic testing confirmed that he has harbored compound heterozygous variants of the AGL gene, namely c. 1611G>A (p.E537E) and c. 579del (p.W194Gfs*7), which were inherited from his father and mother, respectively. According to the guidelines from the American Collage for Medical Genetics and Genomics (ACMG), the two variants were respectively predicted as variant of unknown significance (PM2_Supporting+ PM3+ PP3_Supporting) and likely pathogenic (PVS1+ PM2_Supporting). Electrophysiological examination confirmed that the child had severe damage to the motor and sensory nerves accompanied by axonal injury, which was consistent with the axonal variant type of GBS -acute motor and sensory axonal neuropathy. After a clear diagnosis, the child was treated with intravenous human immunoglobulin. His condition deteriorated progressively, presenting with breathing difficulties, liver failure, and gastrointestinal bleeding, and eventually deceased due to multiple organ failures. Conclusion:The etiology of GSD-Ⅲ and GBS involves multiple aspects such as genetics, metabolism and immunity. In clinical practice, it should be noted that similar clinical manifestations may occur in both conditions. Close attention should be paid to the patients′ blood glucose, blood gas, coagulation function and liver function, etc. Clinical intervention should be carried out as early as possible to improve the prognosis.

Objective:To explore the application value of radiomics models based on MRI of vertebrae and paravertebral muscles in identifying potential vertebral fragility fracture risk in osteoporosis and osteopenia.Methods:This cross-sectional study collected data from patients who underwent both dual-energy X-ray absorptiometry (DXA) and lumbar MRI at the Third Affiliated Hospital of Southern Medical University between January 2014 and December 2023,retrospectively. Based on DXA results, patients were categorized into osteoporosis group ( n=302) and osteopenia group ( n=264), with fracture and non-fracture patients matched at 1∶1 ratio by propensity score matching based on age, gender, and body mass index. The fourth lumbar vertebra was selected as the region of interest (ROI) for the vertebral body, and the bilateral psoas major, erector spinae, and multifidus muscles were selected as the ROIs for the paraspinal muscles. A total of 7 259 radiomics features were extracted from these ROIs. The dataset was divided into a training set and a test set in an 8∶2 ratio by simple random sampling (osteoporosis group 241 and 61 cases, osteopenia group 211 and 53 cases). The T-score was used to establish the clinical model. After feature normalization and dimensionality reduction, logistic regression was applied to build three radiomics models: vertebral model, paraspinal muscle model, and vertebral-paraspinal muscle model. The T-score was then combined with the radiomics model that achieved the highest area under the receiver operating characteristic curve (AUC) in the test set to construct a clinical-radiomics combined model. Model performance was evaluated using the AUC. The DeLong test was used to compare the diagnostic efficacy between models. Results:In the test set, the vertebral-paravertebral muscle model achieved the highest AUC among radiomics models and was selected for combination with the T-score. In identifying potential vertebral fragility fractures of osteoporosis group, the AUC (95% CI) of the clinical model, vertebral model, paraspinal muscle model, vertebral-paraspinal muscle model, and clinical-radiomics model were 0.523 (0.373-0.672), 0.869 (0.779-0.959), 0.608 (0.464-0.752), 0.876 (0.791-0.961), and 0.860 (0.769-0.952), respectively. For osteopenia group, the corresponding AUC(95% CI) were 0.625 (0.467-0.783), 0.696 (0.547-0.845), 0.706 (0.563-0.848), 0.816 (0.702-0.930), and 0.820 (0.710-0.930). The DeLong test showed that the vertebral model for identifying the potential vertebral fracture risk in osteoporosis group had better performance than the paraspinal muscle model ( Z=3.28, P=0.001). While for osteopenia group, there was no significant difference in diagnostic performance between the vertebral model and the paraspinal muscle model ( Z=0.09, P=0.932). The recognition efficacy of the clinical model and the vertebral-paraspinal muscle model was significantly different ( Z=3.69, 1.98; P<0.001, P=0.047), while there was no significant difference between the clinical-radiomics combined model and the vertebral-paraspinal muscle model ( Z=1.51, 0.12; P=0.131, 0.904). Conclusion:The MRI-based vertebral-paraspinal muscle radiomics model can effectively identify osteoporosis or osteopenia patients with potential fragility fracture risk. In osteopenia group, the efficacy of the MRI radiomics models based on the vertebra and paraspinal muscles in identifying potential vertebral fragility fracture risk is comparable.

Objective:To investigate the application of magnetic resonance imaging (MRI) in clinical staging and classification of adult Japanese encephalitis.Methods:The clinical data and craniocerebral MRI findings of 35 adult patients with Japanese encephalitis admitted in General Hospital of Ningxia Medical University from August to September 2018 were analyzed retrospectively. The MRI imaging characteristics were compared among patients with different stages and types, the apparent diffusion coefficient (ADC value) of thalamic lesions in patients of different stages was analyzed. SPSS 23.0 software was used to analyze the data.Results:Six moderate cases all had lesions involving the thalamus, and the number of intracranial lesions was <2. In 11 severe cases, 8 had lesions involving thalamus and 5 had lesions involving hippocampus; the number of intracranial lesions was <2 in 3 cases, the number of intracranial lesions was 2-4 in 3 cases, and the number of intracranial lesions was >4 in 5 cases. In 18 cases critical cases, the lesions involved thalamic in 14 cases, hippocampus in 14 cases, cerebral cortex in 14 cases, cerebral feet in 9 cases, basal ganglia area in 6 cases, and brain stem in 2 cases, respectively; 2 cases had the intracranial lesions <2, 6 cases had intracranial lesions 2-4, 10 cases had intracranial lesions >4. In 11 preliminary stage patients, 9 cases had DWI high signal and 2 had FLAIR slightly high signal; in 19 extreme stage patients, 16 cases had DWI high signal, 11 cases had FLAIR slightly high signal, 3 cases had T1WI high signal and 6 cases had T2WI high signal. In 5 recovery stage patients, 1 case had DWI slightly high signal, 5 cases had FLAIR high signal, and 1 case had T2WI high signal. The ADC values of thalamic lesions in recovery and extreme patients were higher than those in the preliminary stage ( q=3.931 and 4.012, P<0.05). The ADC value of thalamic lesions in the recovery period was higher than that in the extreme period ( q=3.372, P<0.05). Conclusions:The number of lesions and the range of involvement are associated with disease severity in adult Japanese encephalitis. The DWI sequence is easy to detect at early stage, and the FLAIR sequence shows a long time span of lesions; and the DWI and FLAIR sequences are of great significance for the early clinical staging and classification of adult encephalitis patients. At the same time, the ADC value shows a trend of disease progresses, which can be used as a supplement for the clinical staging in adult encephalitis patients.

Chimeric antigen receptor T (CAR-T) cell therapy is a novel cellular immunotherapy that is widely used to treat hematological malignancies, including acute leukemia, lymphoma, and multiple myeloma. Despite its remarkable clinical effects, this therapy has side effects that cannot be underestimated. Cytokine release syndrome (CRS) is one of the most clinically important and potentially life-threatening toxicities. This syndrome is a systemic immune storm that involves the mass cytokines releasing by activated immune cells. This phenomenon causes multisystem damages and sometimes even death. In this study, we reported the management of a patient with recurrent and refractory multiple myeloma and three patients with acute lymphocytic leukemia who suffered CRS during CAR-T treatment. The early application of tocilizumab, an anti-IL-6 receptor antibody, according to toxicity grading and clinical manifestation is recommended especially for patients who suffer continuous hyperpyrexia, hypotensive shock, acute respiratory failure, and whose CRS toxicities deteriorated rapidly. Moreover, low doses of dexamethasone (5-10 mg/day) were used for refractory CRS not responding to tocilizumab. The effective management of the toxicities associated with CRS will bring additional survival opportunities and improve the quality of life for patients with cancer.

OBJECTIVETo investigate changes over time in the shape and signal intensity of high intensity zone (HIZ) in the lumbar intervertebral discs on magnetic resonance images in patients with low back pain.

METHODSThe imaging data were collected from 27 patients with low back pain, who underwent lumbar magnetic resonance (MR) imaging examinations that identified HIZ lesions and received follow-up MR examinations at least 1.5 years later over the period from January 2009 to January 2017. The initial and follow-up MR T2WI images of the patients were read by two experienced radiologists to categorize the changes in the shape of the HIZ lesions into enlarged, unchanged, shrunk, and disappeared. The volume and signal/cerebrospinal fluid signal intensity (T2/CSF) ratio of the HIZ were measured on sagittal MR images using ImageJ software.

RESULTSOf the 43 HIZ lesions found in the initial examinations, 22 (51.2%) remained unchanged in the follow-up examinations, 10 (21.3%) were enlarged, 9 (20.9%) shrank, and 2 (23.3%) disappeared. The follow-up examinations revealed 4 new HIZ lesions in the intervertebral discs. The volumes of these lesions did not vary significantly in the follow-up examinations (=0.653), but the T2/CSF ratio was significantly higher in the follow-up than in the initial examinations (=0.043).

CONCLUSIONSAfter observation for an average of 3 years and 3 months, most of the HIZ lesions in the lumbar intervertebral discs of the patients with low back pain remained stable in shape, but their signal intensity on MR images increased.

Objective To investigate the difference of Alzheimer-associated neuronal thread protein ( AD7c-NTP) level and related factors among different symptom types of schizophrenia. Methods The con-centrations of AD7c-NTP in urine of 30 patients with positive symptoms,46 patients with negative symptoms and 24 controls were detected by enzyme linked immunosorbent assay( ELISA) . Positive and negative symp-tom scale ( PANSS) was used to assess schizophrenia patients. The correlation analysis was conducted be-tween the urine AD7c-NTP and demographic factors. Results The level of AD7c-NTP in urine of patients with negative symptoms((0. 88±0. 93) ng /ml)was higher than that in the patients with positive symptoms ((0. 50±0. 22)ng/ml,P<0. 05). The level of AD7c-NTP of in urine female patients((1. 16±1. 12)ng/ml) was higher than that in the male patients((0. 57± 0. 49)ng/ml,P<0. 01). AD7c-NTP levels in patients with a course of disease of more than 100 months((0. 96±0. 96)ng/ml) were higher than those in patients with a course of disease of less than 100 months((0. 60±0. 59)ng/ml,P<0. 05). The level of AD7c-NTP in pa-tients over 35 years old((0. 94±0. 96)ng/ml) were higher than that in patients under 35 years old((0. 62±0. 62)ng/ml,P<0. 05). The level of AD7c-NTP in patients with MMSE score of 0-22 points((0. 92±0. 80) ng/ml) were higher than that in patients with score of 23-29 points((0. 62±0. 74)ng/ml,P<0. 05). Before admission(at least 2 months),the level of AD7c-NTP in patients without persisting in taking drugs((0. 99± 0.95)ng/ml) was higher than that in patients with persisting in taking drugs((0. 62±0. 65)ng/ml,P<0. 05). The level of AD7c-NTP in schizophrenic patients was positively correlated with age and course of dis-ease( r=0. 29,0. 26,P<0. 05) ,and negatively correlated with smoking history and mini-mental state exami-nation( MMSE) ( r=-0. 13,-2. 41,P<0. 05) . Conclusion There is a difference in AD7c-NTP levels be-tween patients with positive and negative symptoms of schizophrenia. Gender,age,course of disease and anti-psychotics are important factors that affect AD7c-NTP levels in patients with schizophrenia.

Objectives To explore the genetic diagnosis of fructose 1,6 diphosphatase deficiency and analysis of mutation sites of its pathogenic genes. Methods The clinical data and the related results of gene panel screening in one child with fructose 1, 6 diphosphatase (FBPase) deficiency were retrospectively reviewed. Results The 2-year-old girl suffered repeated infection, nausea, vomiting, mental illness, and drowsiness, accompanied by intermittent convulsions. Blood biochemical tests sμggested hypoglycemia and acidosis.The FBP1 gene had a missense mutation,c.355G>A,p.Asp119Asn(isozygoty).Both her parents carried the locus variation (heterozygous). Conclusions Fructose 1, 6 diphosphatase deficiency should be considered when child with hypoglycemia after repeated infection, acidosis, and ketosis.