Objective To observe the value of immediate CT-guided small negative pressure thoracic drainage for pneumothorax after percutaneous lung biopsy(PTLB).Methods Totally 172 patients of unilateral pneumothorax after PTLB were retrospectively enrolled,including 83 patients underwent immediate CT-guided small negative pressure(about 30 mmHg)thoracic drainage after PTLB(group A)and 89 patients underwent bedside closed thoracic drainage after PTLB(group B).Clinical data before treamtent,degree of pneumothorax,the duration of catheterization,pain degree during catheterization(visual analogue scale[VAS]),blood oxygen saturation after treatment,the ratio of immediate relief of clinical symptoms,duration of drainage retention,duration of hospitalization after treatment and the occurrence of pleural reaction were compared between groups.Results Drainage went smoothly in both groups.No significant difference of clinical data before treatment nor pneumothorax degree was found between groups(all P＞0.05).Compared with those in group B,the duration of catheterization was shorter,and pain degree was lower during drainage in group A(both P＜0.001).After drainage,blood oxygen saturation and the proportion of immediate relief of clinical symptoms in group A were both higher than those in group B,while the duration of drainage retention and hospitalization were both shorter in group A than those in group B(all P＜0.001).Pleural reaction occurred in 2 patients in group A and 1 patient in group B,and no significant difference of pleural reaction was detected between groups(P=0.520).Conclusion Immediate CT-guided small negative pressure thoracic drainage was effective and safe for pneumothorax after PTLB.

Objective To observe the value of immediate CT-guided small negative pressure thoracic drainage for pneumothorax after percutaneous lung biopsy(PTLB).Methods Totally 172 patients of unilateral pneumothorax after PTLB were retrospectively enrolled,including 83 patients underwent immediate CT-guided small negative pressure(about 30 mmHg)thoracic drainage after PTLB(group A)and 89 patients underwent bedside closed thoracic drainage after PTLB(group B).Clinical data before treamtent,degree of pneumothorax,the duration of catheterization,pain degree during catheterization(visual analogue scale[VAS]),blood oxygen saturation after treatment,the ratio of immediate relief of clinical symptoms,duration of drainage retention,duration of hospitalization after treatment and the occurrence of pleural reaction were compared between groups.Results Drainage went smoothly in both groups.No significant difference of clinical data before treatment nor pneumothorax degree was found between groups(all P＞0.05).Compared with those in group B,the duration of catheterization was shorter,and pain degree was lower during drainage in group A(both P＜0.001).After drainage,blood oxygen saturation and the proportion of immediate relief of clinical symptoms in group A were both higher than those in group B,while the duration of drainage retention and hospitalization were both shorter in group A than those in group B(all P＜0.001).Pleural reaction occurred in 2 patients in group A and 1 patient in group B,and no significant difference of pleural reaction was detected between groups(P=0.520).Conclusion Immediate CT-guided small negative pressure thoracic drainage was effective and safe for pneumothorax after PTLB.

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.

Objective:To investigate the clinical manifestations, gene mutation characteristics, imaging and video electroencephalogram (VEEG) characteristics of patients with dentatorubral-pallidoluysian atrophy (DRPLA).Methods:The clinical data of 9 patients with genetically diagnosed DRPLA in the Neurology Center, Beijing Tiantan Hospital, Capital Medical University from January 2018 to January 2023 were collected, and the clinical data of DRPLA patients reported in China were retrieved and summarized.Results:A total of 45 cases were included. The clinical characteristics were summarized as follows: (1) The male to female ratio of 45 patients was 1.00∶1.25, and the age of onset was (28.11±14.58) years. (2) The main clinical symptoms of juvenile type, early-onset adult type and late-onset adult type were analyzed, and the results showed that the frequency of seizures in juvenile type (16/17) was higher than that in early-onset adult type (8/21) and late-onset adult type (2/7), with statistically significant difference (χ 2=15.971, P<0.001). In addition, the frequency of cognitive impairment in juvenile type (16/17) was also higher than that in early-onset adult type (15/21) and late-onset adult type (2/7), also with statistically significant difference (χ 2=10.177, P=0.005). Cognitive impairment, language disorder and involuntary movement were common in early-onset adult patients, and about half of the patients had ataxia. Ataxia and language disorder were more common in late-onset adult patients, while seizures and cognitive impairment were rare. (3) In imaging, cerebellum and brainstem atrophy was the most common, followed by cortical atrophy and white matter lesions. (4) The number of trinucleotide (CAG) repeats was 53-79, and there was a significant negative correlation between the number of CAG repeats and the age of onset ( r=-0.765, P<0.001), that means the younger the age of onset, the higher the number of CAG repeats. (5) In terms of electrophysiology, 21 patients provided complete VEEG data, of which slowed activity (52%, 11/21) and generalized discharge (71%, 15/21) were more common, and focal discharge (33%, 7/21) was uncommon. Conclusions:DRPLA patients can present with epilepsy, cerebellar ataxia, and other clinical manifestations. Brainstem and cerebellar atrophy and white matter lesions can be relatively characteristic in imaging. In terms of electrophysiology, slowed activity and generalized discharge are more common. DRPLA patients are easy to be misdiagnosed in clinical practice and genetic confirmation helps confirm the diagnosis.

Objective To explore the effect of continuous cuff compression in improvement of forearm hematoma in patients with percutaneous coronary intervention.Methods A total of 94 patients with coronary intervention for acute myocardial infarction in the hospital from September 2021 to September 2024 were selected as research objects,and they were divided into control group and ob-servation group according to the random number table method,with 47 cases in each group.The control group adopted a customized sphygmomanometer combined with a conventional cuff for intermit-tent compression of the forearm hematoma,and the observation group adopted a customized sphygmo-manometer combined with a double-balloon hollow cuff for continuous compression of the forearm he-matoma.The cyanosis of the hand,wrist skin temperature,numbness and swelling of the hand,the forearm painand heart rate during the cuff compression of the hematoma,as well as the arm circumfer-ence and cuff secondary compression,and direct nursing time of the patients after releasing the cuff compression were compared between the two groups.Results During the period of cuff compression of hematoma,the cyanosis of hand,wrist skin temperature,numbness and swelling of hand,the fore-arm pain and heart rate of the observation group were significantly better than those of the control group(P＜0.05);after releasing the cuff compression,the arm circumference and cuff secondary compression and direct nursing time of the observation group were significantly better than those of the control group(P＜0.05).Conclusion Application of customized sphygmomanometer combined with double-balloon hollow cuff for continuous compression of forearm hematoma can improve patient's comfort degree and cuff compression effect,and reduce nursing workload.

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 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.