ObjectiveTo analyze the characteristics of 150 patients with spinal cord injury complicated with spasticity. MethodsA cross-sectional survey was conducted on 150 patients with spinal cord injury accompanied by spasticity from September, 2019 to December, 2024. Their age, gender, cause of injury, injury site, severity of injury, spasticity severity and other indicators were recorded. The relationships between different characteristics were analyzed, and a correlation analysis of disease duration, spasticity grade, injury level, injury severity and age were conducted. ResultsThere was no significant difference in age distribution between patients with tetraplegia and paraplegia (Z = 0.806, P = 0.420). The proportions of trauma (χ² = 3.982, P = 0.046) and tetraplegia (χ² = 10.559, P = 0.010) were higher in males than in females. Trauma was the main cause of injury in both tetraplegia and paraplegia patients; the proportion of tetraplegia was higher than paraplegia in trauma patients, while paraplegia was higher than tetraplegia in non-trauma patients (χ² = 11.885, P < 0.001). Patients with tetraplegia was dominated by incomplete injury, whereas patients with paraplegia was dominated by complete injury (χ² = 10.885, P = 0.012). Grade A injury was predominant in trauma patients (P = 0.003). Spasticity grade showed a very weak positive correlation with disease duration (r = 0.175, P = 0.032) and age (r = 0.168, P = 0.040). Injury severity showed a very weak positive correlation with age (r = 0.183, P = 0.025). ConclusionCharacteristics of patients with spinal cord injury complicated with spasticity is different with gender, cause of injury, injury level, injury severity.

The number of women entering pregnancy with chronic liver disease is rising， and gestational liver disorders affect 3% of the pregnant population. Both can be associated with significant maternal and fetal morbidity and mortality. An international panel of experts with extensive experience in managing liver disease during pregnancy from various continents contributed to the formulation of these guidelines. This edition of the International Federation of Gynecology and Obstetrics guidelines on liver disease and pregnancy systematically addresses the most common diseases of gestational liver disorders and pregnancy comorbid with acute and chronic liver diseases and summarizes evidence-based clinical guidance and management recommendations， in order to enhance the clinical management of this patient population.

Objective:To summarize the clinical phenotypes, genotypes, and treatment outcomes of NPRL2-related epilepsy. Methods:This was a case summary.Clinical data of patients with NRPL2 variants admitted to the Department of Pediatrics, Peking University People′s Hospital between October 1, 2013 and October 31, 2023 were retrospectively analyzed.Previous reports of patients with the same disease were reviewed. Results:Six cases of NPRL2-related epilepsy were collected, and 37 cases were reported in the previous literatures.The age of onset ranged from 3 days to 18 years with the median age of 24 months.There were 15 patients with onset in infancy.Among the 41 patients diagnosed with epilepsy, 73.1% (30/41) had focal seizures, 34.1% (14/41) had frontal lobe epilepsy, and 17.1% (7/41) had epileptic spasms.Among the patients with known cranial imaging, 58.6% (17/29) had cortical malformations. NPRL2 variants involved 11 nonsense mutations, 10 splice site mutations, 7 frameshift mutations, 1 large fragment deletion, and 14 missense mutations; among them, 39 mutations were pathogenic or likely pathogenic, while the rest 4 mutations had unclear pathogenicity.Among the 27 patients with known outcomes, 11 (40.7%) had no seizures after administration of 1 or 2 types of drugs, and 16 (59.2%) had drug-resistant epilepsy.Among the 16 patients, 1 had no seizures after treatment with 3 types of anti seizure medications, and 7 had no seizures after surgery.Most patients had varying degrees of delay in intellectual and motor development. Conclusions:Patients with NPRL2 variants usually present with frequent focal seizures and epileptic spasms, and the age of onset varies greatly.About half of the patients have drug-resistant epilepsy, half of whom have cortical malformations.For those with drug-resistant epilepsy and abnormal cranial imaging, surgery may be considered.

Objective:To summarize the phenotype and genotype of leukoencephalopathy with calcifications and cysts(LCC).Methods:A case summary.Clinical, imaging, and genetic data of 2 patients with early-onset LCC admitted to the Department of Pediatrics, Peking University People′s Hospital between December 2023 and August 2024 were retrospectively summarized.A review of the literature was also conducted.Results:Case 1: a 19-month-old female infant presented with febrile seizures in infancy and mild developmental delay.Trio whole-exome sequencing (trio-WES) identified compound heterozygous pathogenic variants in the SNORD118 gene: n.92C>T (paternally inherited) and n. 72A>G (maternally inherited). Case 2: an 11-year-and-4-month-old girl had non-specific encephalopathy in the neonatal period, developmental delay with regression, and seizures since early childhood.Trio-WES revealed compound heterozygous pathogenic variants in SNORD118: n.3C>T (paternally inherited) and n. 57G>C (maternally inherited). Both cases showed typical imaging findings of leukoencephalopathy, intracranial calcifications, and cysts.Case 2 has been treated with Bevacizumab for 3 months and remains under follow-up.Combining this 2 cases with previously reported genetically confirmed cases, a total of 97 LCC patients with identified SNORD118 variants were analyzed.The median age of onset was 5 years.Seventy-one cases had childhood onset, including 31 cases with onset at ≤1 year.The inaugural symptoms were: seizures in 40 patients (41.2%), motor disorders in 25 patients (25.8%), developmental delay or cognitive impairment in 19 patients (19.6%) and headaches or increased intracranial pressure in 13 patients (13.4%). Neurological dysfunctions progress during the course.All patients had typical leukoencephalopathy, intracranial calcifications and cysts, with varied imaging progress.A total of 61 variants of SNORD118 were reported and most were compound heterozygous variants.Treatment is primarily symptomatic.Three out of the 4 patients treated with Bevacizumab showed improvement. Conclusions:LCC is a rare autosomal recessive inherited cerebral microangiopathy, characterized by progressive neurological dysfunction and radiological triad of diffuse and asymmetric leukoencephalopathy, intracranial calcifications and cysts.Patients with pathogenic SNORD118 variants should definitely be diagnosed.Symptomatic treatment is the mainstay therapy and Bevacizumab may slow down the progression.

Objective:To analyze the morphologic changes and the extent of severity in end-stage heart disease; and to explore the correlation with their clinical features.Methods:Twelve cases of recipients who underwent pediatric cardiac allograft transplantation were collected from May 2022 to November 2023 at the Seventh Medical Center of People′s Liberation Army of China General Hospital. Gross pathologic examinations were performed and morphological changes were observed under a light microscope after HE, Masson′s trichrome, and reticulin staining. Semi-quantitative analysis of morphologic changes was performed. One case received DMD genetic testing, one received mtDNA variation testing for mitochondriopathy, and 1 received metagenomics next-generation sequencing. Clinical data and related literature were reviewed for comprehensive analysis.Results:There were 12 recipient hearts including 11 dilated cardiomyopathy (DCM) and 1 fulminant myocarditis (FM). The median age of DCM was 12 years (range, 3 to 15 years). DCM showed cardiomyocyte hypertrophy, cardiomyocyte disarray, nuclear morphological changes, interstitial fibrosis and fatty infiltration. One DCM was confirmed as Becker muscular dystrophy by DMD genetic testing. No pathogenic mutations were found in 1 patient that received mtDNA variation testing. H. influenzae was detected in the case of FM. FM showed diffuse and full-thickness inflammatory cell infiltration by large numbers of lymphocytes and plasma cells, scattered eosinophils, and few neutrophils.Conclusions:Cardiac transplantation is an excellent treatment for end-stage heart disease. The morphological features of DCM include cardiomyocyte hypertrophy, nuclear morphological changes, interstitial fibrosis and fatty infiltration. The severity of the lesion is influenced by multiple factors. FM predominantly presents diffuse infiltration of lymphocytes and plasma cells.

Objective:To explore the therapeutic mechanism of moxibustion in Crohn disease(CD)-associated intestinal fibrosis by observing its effects on the angiotensin-converting enzyme(ACE)/angiotensin Ⅱ(Ang Ⅱ)/angiotensin Ⅱ type 1 receptor(AT1R)axis in CD mouse models.Methods:Six randomly selected male C57BL/6 mice were assigned to a normal group,while the remaining mice were administered 0.1 mL of 2,4,6-trinitrobenzene sulfonic acid via enema to establish a CD intestinal fibrosis model.After successful modeling,the mice were randomly divided into a model group,a moxibustion group,and a Western medication group,with 6 rats in each group.The normal group and the model group only received grabbing without intervention.In the moxibustion group,mild moxibustion was applied to Qihai(CV6)and bilateral Tianshu(ST25)once a day for 10 min each time over 7 consecutive days.The Western medication group was administered mesalazine suspension via oral gavage once a day for 7 consecutive days.At the end of the intervention,the general condition,disease activity index(DAI)score,and gross colon score of mice in each group were evaluated.Hematoxylin-eosin staining was used to observe and score the histological changes in the colon tissue in each group.Masson staining was used to observe colonic fibrosis and the ratio of collagen-positive areas was analyzed;the expression of Ang Ⅱ in the colon tissue was detected by the enzyme-linked immunosorbent assay;immunohistochemistry and real-time quantitative reverse transcription polymerase chain reaction were used to detect the protein and mRNA expression of ACE and AT1R in the colon tissue,respectively;Western blotting was used to detect the expression of transforming growth factor(TGF)-β1 and connective tissue growth factor(CTGF)in the colon tissue.Results:Compared to the normal group,the DAI score,gross colon score,colonic histological score,collagen-positive area ratio,ACE protein and mRNA,Ang Ⅱ protein,AT1R protein and mRNA,TGF-β1 protein,and CTGF protein in the colon tissue in the model group increased significantly(P<0.01).In contrast,the above indicators in both the moxibustion group and the Western medication group reduced significantly compared to the model group(P<0.01 or P<0.05).There was no statistical difference in these indicators between the moxibustion group and the Western medication group(P>0.05).Conclusion:Moxibustion can alleviate intestinal fibrosis in CD mice,and its therapeutic mechanism may be associated with the regulation of colonic ACE/AngⅡ/AT1R axis.

Objective:To analyze the morphologic changes and the extent of severity in end-stage heart disease; and to explore the correlation with their clinical features.Methods:Twelve cases of recipients who underwent pediatric cardiac allograft transplantation were collected from May 2022 to November 2023 at the Seventh Medical Center of People′s Liberation Army of China General Hospital. Gross pathologic examinations were performed and morphological changes were observed under a light microscope after HE, Masson′s trichrome, and reticulin staining. Semi-quantitative analysis of morphologic changes was performed. One case received DMD genetic testing, one received mtDNA variation testing for mitochondriopathy, and 1 received metagenomics next-generation sequencing. Clinical data and related literature were reviewed for comprehensive analysis.Results:There were 12 recipient hearts including 11 dilated cardiomyopathy (DCM) and 1 fulminant myocarditis (FM). The median age of DCM was 12 years (range, 3 to 15 years). DCM showed cardiomyocyte hypertrophy, cardiomyocyte disarray, nuclear morphological changes, interstitial fibrosis and fatty infiltration. One DCM was confirmed as Becker muscular dystrophy by DMD genetic testing. No pathogenic mutations were found in 1 patient that received mtDNA variation testing. H. influenzae was detected in the case of FM. FM showed diffuse and full-thickness inflammatory cell infiltration by large numbers of lymphocytes and plasma cells, scattered eosinophils, and few neutrophils.Conclusions:Cardiac transplantation is an excellent treatment for end-stage heart disease. The morphological features of DCM include cardiomyocyte hypertrophy, nuclear morphological changes, interstitial fibrosis and fatty infiltration. The severity of the lesion is influenced by multiple factors. FM predominantly presents diffuse infiltration of lymphocytes and plasma cells.

Objective:To explore the therapeutic mechanism of moxibustion in Crohn disease(CD)-associated intestinal fibrosis by observing its effects on the angiotensin-converting enzyme(ACE)/angiotensin Ⅱ(Ang Ⅱ)/angiotensin Ⅱ type 1 receptor(AT1R)axis in CD mouse models.Methods:Six randomly selected male C57BL/6 mice were assigned to a normal group,while the remaining mice were administered 0.1 mL of 2,4,6-trinitrobenzene sulfonic acid via enema to establish a CD intestinal fibrosis model.After successful modeling,the mice were randomly divided into a model group,a moxibustion group,and a Western medication group,with 6 rats in each group.The normal group and the model group only received grabbing without intervention.In the moxibustion group,mild moxibustion was applied to Qihai(CV6)and bilateral Tianshu(ST25)once a day for 10 min each time over 7 consecutive days.The Western medication group was administered mesalazine suspension via oral gavage once a day for 7 consecutive days.At the end of the intervention,the general condition,disease activity index(DAI)score,and gross colon score of mice in each group were evaluated.Hematoxylin-eosin staining was used to observe and score the histological changes in the colon tissue in each group.Masson staining was used to observe colonic fibrosis and the ratio of collagen-positive areas was analyzed;the expression of Ang Ⅱ in the colon tissue was detected by the enzyme-linked immunosorbent assay;immunohistochemistry and real-time quantitative reverse transcription polymerase chain reaction were used to detect the protein and mRNA expression of ACE and AT1R in the colon tissue,respectively;Western blotting was used to detect the expression of transforming growth factor(TGF)-β1 and connective tissue growth factor(CTGF)in the colon tissue.Results:Compared to the normal group,the DAI score,gross colon score,colonic histological score,collagen-positive area ratio,ACE protein and mRNA,Ang Ⅱ protein,AT1R protein and mRNA,TGF-β1 protein,and CTGF protein in the colon tissue in the model group increased significantly(P<0.01).In contrast,the above indicators in both the moxibustion group and the Western medication group reduced significantly compared to the model group(P<0.01 or P<0.05).There was no statistical difference in these indicators between the moxibustion group and the Western medication group(P>0.05).Conclusion:Moxibustion can alleviate intestinal fibrosis in CD mice,and its therapeutic mechanism may be associated with the regulation of colonic ACE/AngⅡ/AT1R axis.

Objective:To summarize the clinical phenotypes, genotypes, and treatment outcomes of NPRL2-related epilepsy. Methods:This was a case summary.Clinical data of patients with NRPL2 variants admitted to the Department of Pediatrics, Peking University People′s Hospital between October 1, 2013 and October 31, 2023 were retrospectively analyzed.Previous reports of patients with the same disease were reviewed. Results:Six cases of NPRL2-related epilepsy were collected, and 37 cases were reported in the previous literatures.The age of onset ranged from 3 days to 18 years with the median age of 24 months.There were 15 patients with onset in infancy.Among the 41 patients diagnosed with epilepsy, 73.1% (30/41) had focal seizures, 34.1% (14/41) had frontal lobe epilepsy, and 17.1% (7/41) had epileptic spasms.Among the patients with known cranial imaging, 58.6% (17/29) had cortical malformations. NPRL2 variants involved 11 nonsense mutations, 10 splice site mutations, 7 frameshift mutations, 1 large fragment deletion, and 14 missense mutations; among them, 39 mutations were pathogenic or likely pathogenic, while the rest 4 mutations had unclear pathogenicity.Among the 27 patients with known outcomes, 11 (40.7%) had no seizures after administration of 1 or 2 types of drugs, and 16 (59.2%) had drug-resistant epilepsy.Among the 16 patients, 1 had no seizures after treatment with 3 types of anti seizure medications, and 7 had no seizures after surgery.Most patients had varying degrees of delay in intellectual and motor development. Conclusions:Patients with NPRL2 variants usually present with frequent focal seizures and epileptic spasms, and the age of onset varies greatly.About half of the patients have drug-resistant epilepsy, half of whom have cortical malformations.For those with drug-resistant epilepsy and abnormal cranial imaging, surgery may be considered.