OBJECTIVE: We aimed to describe clinical and laboratory characteristics and determine the predictors of outcome in patients with cerebral venous sinus thrombosis.
METHODS: This prospective study was conducted over 2 years among hospitalized patients with cerebral venous sinus thrombosis. Patient outcome was assessed using the Modified Rankin Scale (mRS) score at 3 months. Outcome predictors were identified using logistic regression analysis.
RESULTS: Eighty-one patients were included in this study. The median mRS outcome at 3 months was 1 (interquartile range 1-3). Poor outcomes were observed in 27.2% of patients, and the mortality rate was 9.8%. Factors associated with poor outcomes were age >60 years (relative risk [RR] 5.1), hemiparesis (RR 5.4), altered level of consciousness (RR 7.1), and transverse sinus involvement (RR 1.1). In general, mRS scores were not associated with D-dimer levels (RR 2.4). However, older patients with elevated D-dimer levels showed a significant association with poor outcomes (1.6) according to mRS scores.
CONCLUSIONS: Older age, hemiparesis, and altered consciousness levels were independent predictors of poor outcomes in patients with cerebral venous sinus thrombosis. High D-dimer level showed no association with functional disability, except in older patients.

This study aims to elucidate the clinical and molecular characteristics, treatment outcomes and prognostic factors of patients with histone H3 K27-mutant diffuse midline glioma. We retrospectively analyzed 93 patients with diffuse midline glioma (47 thalamus, 24 brainstem, 12 spinal cord and 10 other midline locations) treated at 24 affiliated hospitals in the Kansai Molecular Diagnosis Network for CNS Tumors. Considering the term \"midline\" areas, which had been confused in previous reports, we classified four midline locations based on previous reports and anatomical findings. Clinical and molecular characteristics of the study cohort included: age 4-78 years, female sex (41%), lower-grade histology (56%), preoperative Karnofsky performance status (KPS) scores ≥ 80 (49%), resection (36%), adjuvant radiation plus chemotherapy (83%), temozolomide therapy (76%), bevacizumab therapy (42%), HIST1H3B p.K27M mutation (2%), TERT promoter mutation (3%), MGMT promoter methylation (9%), BRAF p.V600E mutation (1%), FGFR1 mutation (14%) and EGFR mutation (3%). Median progression-free and overall survival time was 9.9 ± 1.0 (7.9-11.9, 95% CI) and 16.6 ± 1.4 (13.9-19.3, 95% CI) months, respectively. Female sex, preoperative KPS score ≥ 80, adjuvant radiation + temozolomide and radiation ≥ 50 Gy were associated with favorable prognosis. Female sex and preoperative KPS score ≥ 80 were identified as independent good prognostic factors. This study demonstrated the current state of clinical practice for patients with diffuse midline glioma and molecular analyses of diffuse midline glioma in real-world settings. Further investigation in a larger population would contribute to better understanding of the pathology of diffuse midline glioma.

BACKGROUND: Burns cause serious physical and psychological harm to patients, placing a heavy burden on the global healthcare system. Our previous study detailed the epidemiological characteristics of burn injuries in Chinese inpatients from 2009 to 2018. Interestingly, the anatomic locations of burn injuries vary by gender, age, provinces, and outcomes among different causes. Therefore, this current study aims to analyze the characteristics of burn injuries in inpatients with various burn sites by collecting data in China from 2009 to 2018. This analysis will inform future healthcare system decisions and provide effective strategies.
METHODS: Burns inpatients from 196 hospitals across 31 provinces in China were included in the study, covering the period from 2009 to 2018. The data collected encompassed information on gender, age, etiology, regions, clinical outcomes, and anatomical locations of the injuries. Data analysis was conducted using Microsoft Excel 2007.
RESULTS: From 2009 to 2018, a total of 333,995 burns inpatients were recorded. The most vulnerable parts to burns were multiple burn sites (230,090, 68.89%). Women were more susceptible to lower limb burns (15,608, 14%), while men were more prone to eye injuries (8,387, 3.37%) and hand burns (6,119, 2.75%). The age group of 0-10 years was the most vulnerable to burns across all body areas, including internal organs. In China, individuals aged 20-50 years were at a higher risk of head and neck burns compared to other age groups. The Han population showed increased vulnerability to eye injuries (2.12 times higher than minorities), respiratory tract issues (2.09 times higher than minorities), and trunk burns (1.83 times higher than minorities), while being less susceptible to internal organ injuries (0.23 times fewer than minorities) and lower limb burns (0.78 times fewer than minorities). The southwest region had the highest proportion of burns inpatients with burns affecting single body parts, whereas the eastern area had the highest rates of respiratory tract burns (0.85%) and multiple burn sites (80.64%). Scalding was identified as the most common cause of burns, while flame burns (769, 55.81%) and chemical burns (438, 47.35%) were the main causes of respiratory tract and internal organ injuries, respectively.
CONCLUSIONS: This study provides an initial description of characteristics of burns inpatients with various anatomic locations of burns in China over the past decade. Our findings will contribute to the most up-to-date clinical evidence database for healthcare planning and prevention initiatives in both China and other countries.

BACKGROUND: Lipodystrophy is characterized by progressive loss of adipose tissue and consequential metabolic abnormalities. With new treatments emerging for lipodystrophy, there is a growing need to understand the prevalence of specific comorbidities that may be commonly associated with lipodystrophy to contextualize the natural history of lipodystrophy without any disease modifying therapy.
OBJECTIVE: To examine the risk of specific clinical characteristics in people living with lipodystrophy (LD) in 2018-2019 compared with the general US population, among the commercially insured US population.
METHODS: A retrospective cohort study was conducted using the 2018-2019 Clinformatics® Data Mart database. An adult LD cohort (age ≥ 18 years) with at least ≥ 1 inpatient or ≥ 2 outpatient LD diagnoses was created. The LD cohort included non-HIV-associated LD (non-HIV-LD) and HIV-associated LD (HIV-LD) subgroups and compared against age- and sex-matched control groups with a 1:4 ratio from the general population with neither an LD or an HIV diagnosis using odds ratios (ORs) with 95% confidence intervals.
RESULTS: We identified 546 individuals with non-HIV-LD (mean age, 60.3 ± 14.9 years; female, 67.6%) and 334 individuals with HIV-LD (mean age, 59.2 ± 8.3 years; female, 15.0%) in 2018-2019. Compared with the general population, individuals with non-HIV-LD had higher risks (odds ratio [95% confidence interval]) for hyperlipidemia (3.32 [2.71-4.09]), hypertension (3.58 [2.89-4.44]), diabetes mellitus (4.72 [3.85-5.79]), kidney disease (2.78 [2.19-3.53]), liver fibrosis or cirrhosis (4.06 [1.66-9.95]), cancer (2.20 [1.59-3.01]), and serious infections resulting in hospitalization (3.00 [2.19-4.10]). Compared with individuals with HIV, those with HIV-LD have higher odds of hypertension (1.47 [1.13-1.92]), hyperlipidemia (2.46 [1.86-3.28]), and diabetes (1.37 [1.04-1.79]).
CONCLUSIONS: LD imposes a substantial burden on affected individuals due to a high prevalence of metabolic comorbidities and other complications as compared with the general non-LD population. Future longitudinal follow-up studies investigating the causality between LD and observed comorbidities are warranted.

UNASSIGNED: Anti-dipeptidyl-peptidase-like protein-6 (DPPX) encephalitis is a rare autoimmune encephalitis, and clinical and experimental information regarding this disease is limited. We conducted this study to comprehensively describe the clinical characteristics, ancillary test results, neuroimaging results, and treatment response in a group of Chinese patients with anti-DPPX encephalitis for better understanding this disease.
UNASSIGNED: We recruited 14 patients who tested positive for anti-DPPX antibodies in the serum and/or cerebrospinal fluid from 11 medical centers between March 2021 and June 2023. This retrospective study evaluated data on symptoms, autoantibody test, auxiliary examinations, treatments, and outcomes.
UNASSIGNED: The average age at diagnosis was 45.93 ± 4.62 years (range: 11-72 years), and 9 of the 14 patients were males. The main symptoms included cognitive impairment (50.0%, 7/14), central nervous system hyperexcitability (42.9%, 6/14), gastrointestinal dysfunction (35.7%, 5/14), and psychiatric disorders (35.7%, 5/14). Notably, we discovered specific findings on 18F-fluorodeoxyglucose positron-emission tomography (PET)/magnetic resonance imaging in two patients. Co-existing autoantibodies were identified in two patients. Parainfection was identified in four patients. One patient had other autoimmune diseases, and one had tumor. Eleven patients received immunotherapy and most patients improved at discharge. Surprisingly, three male patients but no female patients relapsed during the 6 months of follow-up.
UNASSIGNED: The development and outcome of anti-DPPX encephalitis are variable. Male patients were predominant in our cohort. The most common symptoms were the classical triad of prodromal gastrointestinal dysfunction, cognitive and mental disorders, and central nervous system hyperexcitability. Infections, immune dysregulation, and tumors may be important etiologies. Long-term monitoring of disease development should be done in male patients. Overall, our results highlight novel clinical characteristics of anti-DPPX encephalitis.

Objective: To analyze the clinical characteristics and outcomes of patients with invasive fungal sinusitis (invasive fungal rhinosinusitis, IFR) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) and explored the risk factors for IFR after allo-HSCT. Methods: Nineteen patients with IFR after allo-HSCT at Peking University People\'s Hospital from January 2012 to December 2021 were selected as the study group, and 95 patients without IFR after allo-HSCT during this period were randomly selected as the control group (1:5 ratio) . Results: Nineteen patients, including 10 males and 9 females, had IFR after allo-HSCT. The median age was 36 (10-59) years. The median IFR onset time was 68 (9-880) days after allo-HSCT. There were seven patients with acute myeloid leukemia, five with acute lymphoblastic leukemia, two with myelodysplastic syndrome, two with chronic myeloid leukemia, one with acute mixed-cell leukemia, one with multiple myeloma, and one with T-lymphoblastic lymph node tumor. There were 13 confirmed cases and 6 clinically diagnosed cases. The responsible fungus was Mucor in two cases, Rhizopus in four, Aspergillus in four, and Candida in three. Five patients received combined treatment comprising amphotericin B and posaconazole, one patient received combined treatment comprising voriconazole and posaconazole, nine patients received voriconazole, and four patients received amphotericin B. In addition to antifungal treatment, 10 patients underwent surgery. After antifungal treatment and surgery, 15 patients achieved a response, including 13 patients with a complete response and 2 patients with a partial response. Multivariate analysis revealed that neutropenia before transplantation (P=0.021) , hemorrhagic cystitis after transplantation (P=0.012) , delayed platelet engraftment (P=0.008) , and lower transplant mononuclear cell count (P=0.012) were independent risk factors for IFR after allo-HSCT. The 5-year overall survival rates in the IFR and control groups after transplantation were 29.00%±0.12% and 91.00%±0.03%, respectively (P<0.01) . Conclusion: Although IFR is rare, it is associated with poor outcomes in patients undergoing allo-HSCT. The combination of antifungal treatment and surgery might be effective.
目的： 分析血液病患者异基因造血干细胞移植（allo-HSCT）后侵袭性真菌性鼻窦炎（IFR）的临床特征及预后，探索allo-HSCT后发生IFR的危险因素及预后。 方法： 纳入2012年1月至2021年12月在北京大学人民医院接受allo-HSCT后并发IFR的19例血液病患者，按照1∶5的比例随机选择95例同期未并发IFR的allo-HSCT患者作为对照组，对两组患者进行回顾性巢式病例对照研究。 结果： 19例移植后并发IFR患者中男10例，女9例，中位年龄36（10～59）岁，IFR中位发生时间为移植后68（9～880）d。急性髓系白血病（AML）7例，急性淋巴母细胞白血病（ALL）5例，骨髓增生异常综合征（MDS）2例，慢性髓性白血病（CML）2例，急性混合细胞白血病1例，多发性骨髓瘤1例，T淋巴母细胞样淋巴结瘤1例。确诊13例（68.4%），临床诊断6例（31.6%）。病原菌分布：接合菌6例（31.5%，毛霉菌2例，根霉菌4例），曲霉菌4例（21.1%），念珠菌3株（15.8%）。5例接受两性霉素B+泊沙康唑联合治疗，1例接受伏立康唑+泊沙康唑联合治疗，9例接受伏立康唑单药治疗，4例接受两性霉素B单药治疗。除抗真菌药物治疗外，10例患者接受手术治疗，7例获得疗效。经抗真菌药物及手术治疗后，15例患者（78.9%）患者治疗有效，其中13例（68.4%）达到完全反应，2例（10.5%）为部分反应。多因素分析显示移植前中性粒细胞缺乏（P＝0.021）、移植后并发出血性膀胱炎（P＝0.012）、血小板延迟植入（P＝0.008）、移植物单个核细胞计数较少（P＝0.012）是移植后IFR发生的独立危险因素。IFR组、对照组移植后5年OS率分别为（29.00±0.12）%、（91.00±0.03）%（P<0.01）。 结论： IFR是血液病患者allo-HSCT后相对少见但对移植预后有严重影响的并发症，全身抗真菌药物联合手术治疗可获得较好的临床疗效。.

UNASSIGNED: Movement disorders (MDs) are common in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis but are poorly studied. This study aimed to investigate the clinical characteristics of MDs and the clinical differences between patients with and without MDs in anti-NMDAR encephalitis.
UNASSIGNED: A retrospective study was conducted on patients with anti-NMDAR encephalitis who were first diagnosed and treated in the First People\'s Hospital of Yunnan Province from January 2017 to September 2022. According to the presence or absence of MDs, all patients were divided into two groups, and the clinical manifestations, auxiliary examinations, and prognosis of the two groups were compared. Patients in the MDs group were further subgrouped by different ages (<12 years, 12-17 years, and ≥ 18 years) and genders, and the prevalence of each MD was compared in different age and gender groups.
UNASSIGNED: (1) In our study there were 64 patients, of whom 76.6% (49/64) presented with MDs; the median age of onset in patients with MDs was 21 (15,35) years and 65.3% (32/49) were female. The three most common MDs were orofacial dyskinesia (OFLD) (67.3%), dystonia (55.1%), and stereotypies (34.7%). Patients <12 years were more likely to experience chorea than patients in other age groups (p = 0.003). (2) Compared with the non-MDs group, patients in the MDs group showed higher rates of prodromal manifestations, autonomic dysfunction, consciousness disorders, as well as pulmonary infection and gastrointestinal dysfunction (all p < 0.05). Peripheral blood neutrophil to lymphocyte ratio (NLR) (p = 0.014), the proportion of cerebrospinal fluid (CSF) NMDAR antibody titers ≥1:32 (p = 0.047), ICU admission rate (p = 0.04), length of stay (p = 0.007), maximum mRS score in the course of disease (p = 0.001) and mRS score at discharge (p = 0.006) in the MDs group were significantly higher than the non-MDs group.
UNASSIGNED: MDs associated with anti-NMDAR encephalitis were predominantly hyperkinetic. Chorea occurred more commonly in patients aged <12 years. Patients with MDs were prone to autonomic dysfunction, consciousness disorders, pulmonary infection, and gastrointestinal dysfunction; they had more intense inflammation, more severe disease, and a poorer short-term prognosis.

OBJECTIVE: To explore the clinical manifestations, endoscopic findings, histopathological changes, treatment, and prognosis of eosinophilic gastrointestinal disease (EGID) in children, with the aim of enhancing awareness among pediatricians about this condition.
METHODS: Data of 267 children with EGID were prospectively collected from January 2019 to July 2022 at Jiangxi Children\'s Hospital, Hunan Children\'s Hospital, and Henan Children\'s Hospital. The age of onset, symptoms, physical signs, laboratory examination results, endoscopic findings, histopathological changes, and treatment outcomes were observed.
RESULTS: Among the 267 children with EGID, the majority had mild (164 cases, 61.4%) or moderate (96 cases, 35.6%) clinical severity. The disease occurred at any age, with a higher prevalence observed in school-age children (178 cases). The main symptoms in infants were vomiting and hematemesis, while in toddlers, vomiting and bloody stools were prominent. Abdominal pain and vomiting were the primary symptoms in preschool and school-age children. Nearly half (49.4%) of the affected children showed elevated platelet counts on hematological examination, but there was no significant difference in platelet counts among children with mild, moderate, and severe EGID (P>0.05). Endoscopic findings in EGID children did not reveal significant specificity, and histopathological examination showed no specific structural damage. Among them, 85.0% (227 cases) received acid suppression therapy, 34.5% (92 cases) practiced dietary avoidance, 20.9% (56 cases) received anti-allergic medication, and a small proportion (24 cases, 9.0%) were treated with prednisone. Clinical symptoms were relieved in all patients after treatment, but three cases with peptic ulcers experienced recurrence after drug discontinuation.
CONCLUSIONS: Mild and moderate EGID are more common in children, with no specific endoscopic findings. Dietary avoidance, acid suppression therapy, and anti-allergic medication are the main treatment methods. The prognosis of EGID is generally favorable in children.
目的: 探讨儿童嗜酸粒细胞性胃肠道疾病（eosinophilic gastrointestinal disease, EGID）的临床表现、内镜下改变、病理组织学改变、治疗及预后特点，以提高儿科医师对该疾病的认识。方法: 前瞻性收集2019年1月—2022年7月江西省儿童医院、湖南省儿童医院、河南省儿童医院确诊的267例EGID患儿资料，观察其发病年龄、症状、体征、实验室检查、内镜下改变、病理组织学改变及治疗的预后情况。结果: 267例EGID患儿中，临床分度以轻度（164例，61.4%）和中度（96例，35.6%）为主。各年龄均可发病，以学龄期儿童（178例）为主。婴儿期主要表现为呕吐、呕血，幼儿期主要表现为呕吐、便血，学龄前期和学龄期主要表现为腹痛、呕吐。血常规示近一半（49.4%）患儿出现血小板升高，但轻、中、重度EGID患儿血小板计数比较差异无统计学意义（P>0.05）。EGID患儿消化道内镜下无显著特异性改变，组织病理亦无特异性结构损伤。其中85.0%（227例）予以抑酸治疗，34.5%（92例）予以饮食回避，20.9%（56例）予以抗过敏药物治疗，少部分（24例，9.0%）使用泼尼松治疗。治疗后患儿临床症状均得到缓解，3例以消化性溃疡为表现者停药后症状出现反复。结论: 儿童EGID以轻、中度多见，内镜下改变无明显特异性，饮食回避及抑酸、抗过敏药物为主要治疗方法，预后良好。.

OBJECTIVE: To investigate the clinical characteristics, treatment, and prognosis of children with perianal fistulizing Crohn\'s disease (pfCD).
METHODS: A retrospective analysis was conducted on the children, aged 6-17 years, who were diagnosed with Crohn\'s disease (CD) from April 2015 to April 2023. According to the presence or absence of perianal fistulizing lesions, they were divided into two groups: pfCD (n=60) and non-pfCD (n=82). The two groups were compared in terms of clinical characteristics, treatment, and prognosis.
RESULTS: The incidence of pfCD was 42.3% (60/142). The proportion of males in the pfCD group was higher than that in the non-pfCD group. Compared with the non-pfCD group, the pfCD group had a significantly higher proportion of children with involvement of the colon and small intestine or those with upper gastrointestinal lesions (P<0.05). Compared with the non-pfCD group, the pfCD group had a significantly higher rate of use of infliximab during both induction and maintenance treatment (P<0.05). In the pfCD group, the children with complex anal fistula accounted for 62% (37/60), among whom the children receiving non-cutting suspended line drainage accounted for 62% (23/37), which was significantly higher than the proportion among the children with simple anal fistula patients (4%, 1/23) (P<0.05). There were no significant differences between the two groups in mucosal healing rate and clinical remission rate at week 54 of treatment (P>0.05). The pfCD group achieved a fistula healing rate of 57% (34/60) at week 54, and the children with simple anal fistula had a significantly higher rate than those with complex anal fistula (P<0.05).
CONCLUSIONS: There is a high incidence rate of pfCD in children with CD, and among the children with pfCD, there is a high proportion of children with the use of biological agents. There is a high proportion of children receiving non-cutting suspended line drainage among the children with complex anal fistula. The occurrence of pfCD should be closely monitored during the follow-up in children with CD.
目的: 分析儿童肛周瘘管型克罗恩病（perianal fistulizing Crohn\'s disease, pfCD）患儿的临床特征、治疗及预后。方法: 回顾性选择2015年4月2023年4月间诊断为克罗恩病（Crohn\'s disease, CD）的6~17岁患儿142例为研究对象，根据是否存在肛周瘘管型病变，分为pfCD组（60例）和非pfCD组（82例），比较两组患儿的临床特征、治疗及预后。结果: pfCD发生率为42.3%（60/142）。pfCD组男性比例，病变范围累及结肠、小肠结肠比例，以及合并上消化道病变的比例高于非pfCD组（P<0.05）。pfCD组英夫利西单抗诱导缓解及维持缓解治疗比例高于非pfCD组（P<0.05）。pfCD组中，复杂性肛瘘患儿占62%（37/60），肛瘘非切割性挂线引流术治疗在复杂性肛瘘患儿中比例为62%（23/37），显著高于简单性肛瘘患儿（4%，1/23）（P<0.05）。两组患儿治疗54周黏膜愈合率和临床缓解率差异均无统计学意义（P>0.05）。pfCD组治疗54周瘘管愈合率为57%（34/60），其中简单性肛瘘患儿瘘管愈合率高于复杂性肛瘘患儿（P<0.05）。结论: 儿童CD患者中pfCD发生率高，pfCD患儿生物制剂使用比例高，复杂性肛瘘非切割性挂线引流术比例高，CD患儿随访中需要密切关注pfCD的发生。.

OBJECTIVE: To analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and rectovestibular fistulas.
METHODS: The retrospective study of 183 patients with mild CARM was conducted with assessments of demographic information, color Doppler echocardiography results, and follow-up data. We performed an analysis of the clinical characteristics of CHD, grouping them based on sex and type of mild CARM.
RESULTS: Of the 183 patients, rectoperineal fistula occurred in 133 patients (72.7%), while the frequency of CHD was 79.8% (146/183). Ventricular septal defects (VSDs) occur more frequently in patients with rectoperineal fistula compared to those with rectovestibular fistula (1.5% vs. 10%), while the opposite trend was observed for patent ductus arteriosus (PDAs) (39.8% vs. 22.0%). Additionally, males presented higher frequency of PDA (42.7% vs. 26.4%) and self-healing (6 months: 87.2% vs. 42.6%; 12 months: 91.0% vs. 63.2%) than females. However, males had a lower rate of undergoing cardiac surgery (6.4% vs. 17.6%) and a younger median diagnosis age (1 day vs. 9 days).
CONCLUSIONS: Our study indicates that there is a necessity for meticulous cardiac assessment and follow-up in neonates diagnosed with mild CARM.