Objective:To evaluate the clinical efficacy of Jianpi Bushen Prescription in treating acute gouty arthritis with spleen-kidney deficiency syndrome using propensity score matching method.Methods:A retrospective analysis method was used to select 156 patients with acute gouty arthritis with spleen kidney deficiency type admitted from March 2022 to March 2024. They were divided into an observation group of 89 cases and a control group of 67 cases according to the treatment method. Propensity score matching (PSM) was further adopted to balance the confounding factors before treatment in a 1:1 ratio. Finally, 42 patients in each group were successfully matched. The control group received conventional Western medicine, the observation group received additional treatment with Jianpi Bushen Prescription on the basis of the control group. The treatment for both groups lasted for 1 month. TCM syndrome scores were performed before and after treatment, and the levels of serum uric acid (UA), ESR, and pH were measured using an automatic dry biochemical analyzer. The VAS scale was used to assess the degree of pain, the Oswestry Disability Index (ODI) was used to evaluate the degree of joint function improvement, and the Quality of Life Scale-36 (SF-36) was used to evaluate the quality of life of patients. Adverse reactions during treatment were observed and recorded to evaluate clinical efficacy.Results:The total effective rate of the observation group 92.86% (39/42) was higher than that of the control group 73.81% (31/42), with statistical significance ( χ2=5.49, P<0.05). After treatment, the joint pain, soreness and weakness of the waist and knees, poor flexion and extension, and pale and greasy tongue coating, were lower than those in the control group ( t values were 3.38, 4.26, 3.96, 3.97, 4.41, respectively, P<0.01). After treatment, the serum uric acid (UA) [(351.84±36.46) μmol/L vs. (380.19±39.42) μmol/L, t=3.42] and erythrocyte sedimentation rate (ESR) [(17.91±3.71) mm/h vs. (21.43±3.90) mm/h, t=4.24] of the observation group were lower than those in the control group, and the pH value (7.24±0.49 vs. 6.98±0.57, t=2.24) was higher than that of the control group ( P<0.05). After treatment, the VAS and ODI of the observation group were lower than those of the control group ( t values were 5.80, 6.25, respectively, P<0.01), and the SF-36 score was higher than that of the control group ( t=3.23, P<0.05). During the treatment, the incidence of adverse reactions was 14.29% (6/42) in the observation group and 9.52% (4/42) in the control group. There was no statistical significance in the incidence of adverse reactions between the two groups ( χ2=0.45, P>0.05). Conclusions:Jianpi Bushen Prescription has good efficacy on the treatment of acute gouty arthritis with spleen-kidney deficiency syndrome. It can reduce the levels of uric acid, improve the life quality of patients, and enhance efficacy, with good treatment safety.

Objective:To explore the diagnostic value of combining Ki67, molecular subtyping, and ultrasonographic parameters in predicting axillary lymph node metastasis in breast cancer.Methods:200 breast cancer patients who were admitted to Meizhou People’s Hospital from Jan. 2020 to Dec. 2022 were collected. Based on the presence or absence of axillary lymph node metastasis in breast cancer, the patients were divided into an axillary lymph node metastasis group and a non-axillary lymph node metastasis group. Age, clinical stage, tumor location, tumor size, degree of differentiation, boundary, blood flow, echo, calcification, morphology, vascular invasion, Ki67, molecular typing, resistance index (RI) , shear wave velocity were collected. Multivariate Logistic regression analysis was used to screen the risk factors for axillary lymph node metastasis of breast cancer, and receiver operating characteristic curve (ROC) was used to evaluate the clinical value of ki67, molecular typing combined with ultrasound parameters in the diagnosis of axillary lymph node metastasis of breast cancer.Results:There were no statistically significant differences in age, clinical stage, tumor location, tumor size, differentiation degree, boundary, blood flow, echo or calcification between the axillary lymph node metastasis group and the non-axillary lymph node metastasis group ( t=0.80, χ20.13, χ2=0.14, χ2=0.90, χ2=0.64, χ2=1.03, χ2=0.04, χ2=0.34, χ2=1.2, P>0.05) , while there were statistically significant differences in morphology, vascular invasion, Ki67, molecular classification, RI and shear wave velocity between the two groups ( χ2=12.01, χ2=8.75, χ2=11.36, χ2=11.43, t=6.34, t=7.25, P<0.05) . Multivariate Logistic regression analysis showed that vascular invasion, Ki67 high expression, triple negative breast cancer, RI and shear wave velocity were all risk factors for axillary lymph node metastasis ( OR=5.572,4.026,3.632,107.639,1.936, P<0.05) . ROC curve analysis results showed that the AUC of Ki67, molecular typing, RI and shear wave velocity in the diagnosis of axillary lymph node metastasis of breast cancer was 0.620, 0.594, 0.744 and 0.792, respectively, and the AUC of Ki67, molecular typing, RI and shear wave velocity in the diagnosis of axillary lymph node metastasis of breast cancer was 0.846. The AUC of the combination of Ki67, molecular typing, RI and shear wave velocity in the diagnosis of axillary lymph node metastasis of breast cancer was higher than that of Ki67, molecular typing, RI and shear wave velocity alone ( Z=5.55,7.10,3.44,2.45, P<0.05) . Conclusions:High Ki67 expression, triple-negative breast cancer, lymphovascular invasion,RI, and shear wave velocity are all risk factors for axillary lymph node metastasis in breast cancer. The combined use of Ki67, molecular subtype, RI, and shear wave velocity can improve the diagnostic accuracy for axillary lymph node metastasis in breast cancer.

Objective:To summarize the clinical characteristics of children with mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (ECHS1D) caused by c.489G>A (p.Pro163=) compound heterozygous variants in the ECHS1 gene, and to explore genotype-phenotype correlations.Methods:A case series study was performed to analyze clinical, biochemical, metabolic, imaging, genetic, treatment and follow-up outcomes of 24 children with ECHS1 gene c.489G>A(p.Pro163=) variant, who were diagnosed in the Department of Neurology, Beijing Children′s Hospital from July 2010 to June 2024. Disease severity was assessed using the Newcastle Paediatric Mitochondrial Disease Scale, and Fisher exact test was applied to compare the improvement rate between valine-restricted and non-restricted groups.Results:These 24 children were all diagnosed after 2022, with a disease duration of 3.35 (1.25, 6.52) years at diagnosis. A total of 8 children initially had negative genetic results, and were finally confirmed by abnormal splicing of ECHS1 gene via skin fibroblast RNA sequencing, with the longest diagnostic time of 14 years. All 24 children presented with Leigh syndrome, including 11 boys and 13 girls, with an onset age of 1.46 (0.96, 2.79) years; 16 children (67%) were mild cases. Common initial symptoms included developmental delay (9 cases) and paroxysmal dystonia (9 cases), followed by developmental regression (3 cases), nystagmus (2 cases), and epilepsy (1 case). Main manifestations were dystonia (18 cases), developmental regression (14 cases), nystagmus (12 cases), developmental delay (11 cases), ataxia (10 cases), vision loss (9 cases), seizures (2 cases), and hearing impairment (1 case). Among 22 children who underwent blood and urine metabolic screening, 21 children (95%) had elevated urinary 2, 3-dihydroxy-2-methylbutyric acid and 19 children (86%) had elevated urinary S-(2-hydroxypropyl) cysteamine. All 24 children had symmetric abnormal signals in bilateral globus pallidus on cranial magnetic resonance imaging, 10 children had isolated globus pallidus involvement, and other common involved sites included caudate nucleus and brainstem (9 cases each), putamen (7 cases), and cerebral white matter (5 cases). At last follow-up, all 24 children survived, with a follow-up duration of 5.40 (2.75, 8.02) years and a maximum age of 17.8 years; 17 children (71%) had varying degrees of clinical improvement. There was no statistical difference in the improvement rate between children with or without valine-restricted diet (12/14 vs. 5/8, P=0.309). A total of 18 pathogenic variants in the ECHS1 gene were identified among 24 children, 13 of which were distributed in exons 7 and 8; those carrying c.308T>C, c.523G>A, c.796A>G, and c.832G>A variants were mostly severe cases. Conclusions:Children carrying ECHS1 gene c.489G>A(p.Pro163=) compound heterozygous variants face significant diagnostic delay. Clinical awareness of this synonymous variant needs further improvement for timely diagnosis. All these cases present as Leigh syndrome, mostly mild, with no clear genotype-phenotype correlation identified.

Objective:To summarize the long-term efficacy of nicotinamide in treating pediatric early-onset progressive encephalopathy with brain edema and (or) leukoencephalopathy-2 (PEBEL2) caused by NAXD gene variation .Methods:This was a case report conducted from February 2019 to January 2025. The long-term efficacy of nicotinamide was observed by following up a child with PEBEL2 who received the treatment in the Department of Neurology, Beijing Children′s Hospital Affiliated to Capital Medical University. The clinical data included changes in skin lesions, neurological symptoms. The modified Rankin scale (mRS) was used to evaluate the recovery of neurological function.Results:A boy was diagnosed with PEBEL2 caused by NAXD gene variation via genetic testing at Beijing Children′s Hospital Affiliated to Capital Medical University in February 2019, when he was 4 years and 6 months of age. Immediately after diagnosis, nicotinamide treatment was initiated at an initial dose of 100 mg/d, which was increased by 100 mg per week and gradually increased to 500 mg/d; meanwhile, other therapeutic drugs were gradually discontinued. After 1 year and 8 months of treatment, the child′s skin lesions had completely resolved; at the 2-year follow-up, dystonia in both upper limbs and swallowing dysfunction was alleviated significantly; by 2.5-year follow-up, his cognitive function also showed improvement. When the child was treated with 500 mg/d for 3 years, a rash appeared around the mouth. After the dose was reduced to 250 mg/d, the rash resolved, and the dose of 250 mg/d was maintained until the last follow-up. At the last follow-up in January 2025, the child was 10 years and 5 months of age. His mRS score decreased from 5 (before treatment) to 4. During the 6-year of continuous nicotinamide treatment, the child′s condition remained stable without progression. Drug-related skin rashes occurred, but no severe drug-related adverse reactions were observed.Conclusions:PEBEL2 is a treatable mitochondrial disease. Nicotinamide treatment can effectively improve skin lesions and neurological symptoms in PEBEL2 patients, and the long-term administration demonstrates a favorable safety profile.

Objective:To explore the diagnostic value of combining Ki67, molecular subtyping, and ultrasonographic parameters in predicting axillary lymph node metastasis in breast cancer.Methods:200 breast cancer patients who were admitted to Meizhou People’s Hospital from Jan. 2020 to Dec. 2022 were collected. Based on the presence or absence of axillary lymph node metastasis in breast cancer, the patients were divided into an axillary lymph node metastasis group and a non-axillary lymph node metastasis group. Age, clinical stage, tumor location, tumor size, degree of differentiation, boundary, blood flow, echo, calcification, morphology, vascular invasion, Ki67, molecular typing, resistance index (RI) , shear wave velocity were collected. Multivariate Logistic regression analysis was used to screen the risk factors for axillary lymph node metastasis of breast cancer, and receiver operating characteristic curve (ROC) was used to evaluate the clinical value of ki67, molecular typing combined with ultrasound parameters in the diagnosis of axillary lymph node metastasis of breast cancer.Results:There were no statistically significant differences in age, clinical stage, tumor location, tumor size, differentiation degree, boundary, blood flow, echo or calcification between the axillary lymph node metastasis group and the non-axillary lymph node metastasis group ( t=0.80, χ20.13, χ2=0.14, χ2=0.90, χ2=0.64, χ2=1.03, χ2=0.04, χ2=0.34, χ2=1.2, P>0.05) , while there were statistically significant differences in morphology, vascular invasion, Ki67, molecular classification, RI and shear wave velocity between the two groups ( χ2=12.01, χ2=8.75, χ2=11.36, χ2=11.43, t=6.34, t=7.25, P<0.05) . Multivariate Logistic regression analysis showed that vascular invasion, Ki67 high expression, triple negative breast cancer, RI and shear wave velocity were all risk factors for axillary lymph node metastasis ( OR=5.572,4.026,3.632,107.639,1.936, P<0.05) . ROC curve analysis results showed that the AUC of Ki67, molecular typing, RI and shear wave velocity in the diagnosis of axillary lymph node metastasis of breast cancer was 0.620, 0.594, 0.744 and 0.792, respectively, and the AUC of Ki67, molecular typing, RI and shear wave velocity in the diagnosis of axillary lymph node metastasis of breast cancer was 0.846. The AUC of the combination of Ki67, molecular typing, RI and shear wave velocity in the diagnosis of axillary lymph node metastasis of breast cancer was higher than that of Ki67, molecular typing, RI and shear wave velocity alone ( Z=5.55,7.10,3.44,2.45, P<0.05) . Conclusions:High Ki67 expression, triple-negative breast cancer, lymphovascular invasion,RI, and shear wave velocity are all risk factors for axillary lymph node metastasis in breast cancer. The combined use of Ki67, molecular subtype, RI, and shear wave velocity can improve the diagnostic accuracy for axillary lymph node metastasis in breast cancer.

Objective To study the plasma metabolomics of mice poisoned by different dosage of the combination of diazepam and ethanol,and to reveal the toxicological mechanisms of combined poisoning of diazepam and ethanol.Methods Female Kunming mice were randomly divided into blank group,single and combined poisoning group(n=6),Based on the LD50 of diazepam co-administered with graded ethanol doses,mice in the single-drug and combined groups received oral gavage at 1/2,1,and 2 × LD50.Retro-orbital blood samples(～500 μL)were collected within 24 hours post-administration and analyzed by UPLC-QE-MS technology.Principal component analysis and orthogonal partial least squares discriminant analysis were used to identify differential metabolites and associated metabolic pathways.Results A total of 387 differential metabolites were identified in the combined poisoning group of diazepam and ethanol implicating the key pathways including tryptophan metabolism,phenylalanine metabolism,arginine and proline metabolism,Glycerophospholipid metabolism,phenylalanine,tyrosine and tryptophan biosynthesis.Conclusion Combined diazepam and ethanol poisoning exerts significant systemic effects by disrupting neurotransmitters conduction,exacerbating oxidative stress response and dysregulating energy metabolism.

BACKGROUND: As an essential part of health services, rehabilitation is of great significance to improve the health and quality of life of the whole population. Accelerating aging calls for a significant expansion of rehabilitation services in China, but rehabilitation needs remain unclear. We conducted the study to explore the rehabilitation needs in China and project the trend of rehabilitation needs from 2020 to 2034. METHODS: The data of health conditions that might potentially benefit from rehabilitation were obtained from Global Burden of Disease (GBD) study. Estimated annual percentage changes (EAPCs) were calculated to quantify the trends of the age-standardized rates. Projections of rehabilitation needs were made until 2034 using Bayesian age-period-cohort analysis (BAPC). RESULTS: Approximately 460 million persons (33.3% of the total population) need rehabilitation in China, contributing to 63 million years lived with disabilities (YLDs) in 2019. The number of prevalent cases that need rehabilitation increased from around 268 (95% uncertainty interval [UI]: 257-282) million in 1990 to almost 460 (95% UI: 443-479) million in 2019, representing an increase of 71.3%. The highest contribution to the need for rehabilitation was musculoskeletal disorders with about 322 (95% UI: 302-343) million persons in seven aggregate disease and injury categories, and hearing loss with over 95 (95% UI: 84-107) million people among 25 health conditions. Based on the projection results, there will be almost 636 million people (45% of the total population) needing rehabilitation services in China by 2034, representing an increase of 38.3%. The rehabilitation needs of neoplasms, cardiovascular diseases, and neurological disorders are expected to increase significantly from 2019 to 2034, with increases of 102.3%, 88.8% and 73.2%, respectively. CONCLUSIONS The need for rehabilitation in China substantially increased over the last 30 years. It is predicted that over two in five people will require rehabilitation by 2034, thus suggesting the need to develop rehabilitation services that meet individuals' rehabilitation needs.
Humans ; China/epidemiology* ; Global Burden of Disease ; Female ; Male ; Musculoskeletal Diseases/epidemiology* ; Rehabilitation/trends* ; Quality of Life ; Middle Aged ; Aged ; Bayes Theorem

Objective:To assess the efficacy and safety of azacitidine combined with lenalidomide in MDS patients and explore potential mechanisms of therapeutic response.Methods:Sixteen MDS patients with TP53 mutations received azacitidine plus lenalidomide at ZhongDa Hospital, Southeast University (January 2021–June 2025). Efficacy and safety were assessed, and TP53 mutation status was correlated with treatment response. Whole-transcriptome sequencing and bioinformatics were used to explore molecular biomarkers associated with therapeutic efficacy.Results:Sixteen patients (median age 69.5 years, range 52–82; 8 males, 8 females) were enrolled. According to the Molecular International Prognostic Scoring System (IPSS-M), 1, 2, and 13 patients were classified as median low, high, and very high risk, respectively. Among 16 TP53-mutated patients, 11 had biallelic mutations and 5 had monoallelic mutations. Overall response rate was 56.3% (9/16), composite complete remission rate (CRc) was 31.3% (5/16), and hematology improvement rate was 25% (4/16). Among TP53-mutated patients, the response rate was 56.3% (9/16), with variant allele frequency dropping from 65.6% to 16.5% in responders ( P=0.017). In patients with TP53 mutations and complex karyotype, response rate was 53.8% (7/13), with 57.1% (4/7) showing disappearance of CK post-treatment. The most common grade 3–4 nonhematologic adverse events were infections (9/16, 56.3% ), including pneumonia (4/16, 25.0% ), gastrointestinal infections (3/16, 18.8% ), perianal infections (1/16, 6.3% ) and sepsis (1/16, 6.3% ). High CBX8 expression may be linked to treatment response. Conclusion:Azacitidine plus lenalidomide is an effective and safe therapy for MDS, including patients with TP53 mutations and complex karyotypes. Treatment markedly reduces TP53 variant allele frequency in responders, and high CBX8 expression may predict therapeutic response.

Objective:To summarize the clinical characteristics of children with mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (ECHS1D) caused by c.489G>A (p.Pro163=) compound heterozygous variants in the ECHS1 gene, and to explore genotype-phenotype correlations.Methods:A case series study was performed to analyze clinical, biochemical, metabolic, imaging, genetic, treatment and follow-up outcomes of 24 children with ECHS1 gene c.489G>A(p.Pro163=) variant, who were diagnosed in the Department of Neurology, Beijing Children′s Hospital from July 2010 to June 2024. Disease severity was assessed using the Newcastle Paediatric Mitochondrial Disease Scale, and Fisher exact test was applied to compare the improvement rate between valine-restricted and non-restricted groups.Results:These 24 children were all diagnosed after 2022, with a disease duration of 3.35 (1.25, 6.52) years at diagnosis. A total of 8 children initially had negative genetic results, and were finally confirmed by abnormal splicing of ECHS1 gene via skin fibroblast RNA sequencing, with the longest diagnostic time of 14 years. All 24 children presented with Leigh syndrome, including 11 boys and 13 girls, with an onset age of 1.46 (0.96, 2.79) years; 16 children (67%) were mild cases. Common initial symptoms included developmental delay (9 cases) and paroxysmal dystonia (9 cases), followed by developmental regression (3 cases), nystagmus (2 cases), and epilepsy (1 case). Main manifestations were dystonia (18 cases), developmental regression (14 cases), nystagmus (12 cases), developmental delay (11 cases), ataxia (10 cases), vision loss (9 cases), seizures (2 cases), and hearing impairment (1 case). Among 22 children who underwent blood and urine metabolic screening, 21 children (95%) had elevated urinary 2, 3-dihydroxy-2-methylbutyric acid and 19 children (86%) had elevated urinary S-(2-hydroxypropyl) cysteamine. All 24 children had symmetric abnormal signals in bilateral globus pallidus on cranial magnetic resonance imaging, 10 children had isolated globus pallidus involvement, and other common involved sites included caudate nucleus and brainstem (9 cases each), putamen (7 cases), and cerebral white matter (5 cases). At last follow-up, all 24 children survived, with a follow-up duration of 5.40 (2.75, 8.02) years and a maximum age of 17.8 years; 17 children (71%) had varying degrees of clinical improvement. There was no statistical difference in the improvement rate between children with or without valine-restricted diet (12/14 vs. 5/8, P=0.309). A total of 18 pathogenic variants in the ECHS1 gene were identified among 24 children, 13 of which were distributed in exons 7 and 8; those carrying c.308T>C, c.523G>A, c.796A>G, and c.832G>A variants were mostly severe cases. Conclusions:Children carrying ECHS1 gene c.489G>A(p.Pro163=) compound heterozygous variants face significant diagnostic delay. Clinical awareness of this synonymous variant needs further improvement for timely diagnosis. All these cases present as Leigh syndrome, mostly mild, with no clear genotype-phenotype correlation identified.

Objective:To summarize the long-term efficacy of nicotinamide in treating pediatric early-onset progressive encephalopathy with brain edema and (or) leukoencephalopathy-2 (PEBEL2) caused by NAXD gene variation .Methods:This was a case report conducted from February 2019 to January 2025. The long-term efficacy of nicotinamide was observed by following up a child with PEBEL2 who received the treatment in the Department of Neurology, Beijing Children′s Hospital Affiliated to Capital Medical University. The clinical data included changes in skin lesions, neurological symptoms. The modified Rankin scale (mRS) was used to evaluate the recovery of neurological function.Results:A boy was diagnosed with PEBEL2 caused by NAXD gene variation via genetic testing at Beijing Children′s Hospital Affiliated to Capital Medical University in February 2019, when he was 4 years and 6 months of age. Immediately after diagnosis, nicotinamide treatment was initiated at an initial dose of 100 mg/d, which was increased by 100 mg per week and gradually increased to 500 mg/d; meanwhile, other therapeutic drugs were gradually discontinued. After 1 year and 8 months of treatment, the child′s skin lesions had completely resolved; at the 2-year follow-up, dystonia in both upper limbs and swallowing dysfunction was alleviated significantly; by 2.5-year follow-up, his cognitive function also showed improvement. When the child was treated with 500 mg/d for 3 years, a rash appeared around the mouth. After the dose was reduced to 250 mg/d, the rash resolved, and the dose of 250 mg/d was maintained until the last follow-up. At the last follow-up in January 2025, the child was 10 years and 5 months of age. His mRS score decreased from 5 (before treatment) to 4. During the 6-year of continuous nicotinamide treatment, the child′s condition remained stable without progression. Drug-related skin rashes occurred, but no severe drug-related adverse reactions were observed.Conclusions:PEBEL2 is a treatable mitochondrial disease. Nicotinamide treatment can effectively improve skin lesions and neurological symptoms in PEBEL2 patients, and the long-term administration demonstrates a favorable safety profile.