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Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Thromboangiitis Obliterans (TAO) is a disease of small and medium-sized arteries with an unclear natural course. This study aims to establish a national registry of the disease to gain a better understanding of its epidemiology and clinical course. Method: This study was a cohort study of 242 patients with a high probability of TAO admitted to Mashhad University of Medical Sciences (MUMS) hospitals from 2000 to 2015. Of these, 91 patients with a confirmed diagnosis were included in the study (90 males and 1 female) with a mean age of 35 ± 7.8 years. Results: The most common symptom upon onset of the disease was paresthesia (29.7%), followed by cold sensitivity and paresthesia (93.4%) during the progression of the disease and Raynaud syndrome or vasospasm (93.9%) in the active phase. The right lower limb was the most commonly affected limb (46.2%), and presenting ischemic symptoms in 48.4%. Statistics indicated a positive correlation between the duration of Burger's disease and the number of affected limbs (p = 0.001). There was no effect of disease duration on the likelihood of amputations (p = 0.28). Conclusion: Some patients may experience mild, subtle symptoms for years before the initial signs and symptoms appear, which can be severe and rapidly progress to the point of requiring amputation. We suggest that the diagnostic criteria for Buerger's disease should be revised in light of the presence of atherosclerosis and its associated risk factors, which present a challenge in terms of diagnosis and treatment. Clinical experience will be of great importance in this regard. [ABSTRACT FROM AUTHOR]

To explore the clinical features, treatment, and prognosis of patients with lymphoma-associated hemophagocytic syndrome (LAHS) in a real-world clinical setting. We retrospectively examined LAHS patients diagnosed at our center between January 2016 and August 2023, focusing primarily on their clinical features, therapeutic approaches, overall response rate (ORR), and overall survival (OS). A combination of univariate and multivariate analyses was conducted to identify potential prognostic factors. A total of 86 patients diagnosed with LAHS were included to evaluate clinical characteristics and prognostic factors. Patients with T/NK cell lymphoma had a higher probability of developing hemophagocytic syndrome (HPS) during the clinical process than those with B cell lymphoma. The median survival time was 55 days for all patients, and 47 and 81 days for the T/NK cell LAHS and B cell LAHS cohorts, respectively (P = 0.025). Among the patients evaluated, the ORR was 42.2%. Patients starting with anti-lymphoma treatment had a better, albeit not significant, ORR than those beginning with anti-HPS treatment. In the univariate analysis, T/NK cell LAHS (P = 0.027), HPS onset at relapse (P = 0.036), higher baseline plasma EBV-DNA levels (> 4,000 copies/mL, P = 0.034), and treatments including cytokine adsorption and ruxolitinib (P < 0.001 and P = 0.017, respectively) were potentially associated with worse OS, while corticosteroid therapy benefited OS. In the multivariate analysis, T/NK cell LAHS (adjusted hazard ratio (aHR) = 2.007), cytokine adsorption therapy (aHR = 4.547), and corticosteroid therapy (aHR = 0.118) were independently associated with mortality. T/NK cell lymphoma was the main cause of LAHS and carried a worse prognosis. Whether anti-lymphoma or anti-HPS treatment should start first still requires prospective studies with larger sample sizes. The key point in controlling HPS is to block the cytokine storm promptly. Corticosteroid therapy is both effective and accessible and should be used early and in sufficient quantities. [ABSTRACT FROM AUTHOR]

Abstract Male breast cancer (MBC) is a rare condition with unique characteristics compared to female breast cancer (FBC). Despite its scarceness, there is growing evidence that MBC should not be studied and treated as FBC due to factors like later diagnosis stage and distinct genetic makeup. Retrospective observational study in the EpiChron Cohort, selecting all the prevalent patients with breast cancer between 2010 and 2019. Logistic models were used to determine associated comorbidities. Between 2010 and 2019, 105 MBC and 11,657 FBC patients were found in the EpiChron Cohort. MBC patients had a high mean age at diagnosis and number of comorbidities. Paying attention to comorbidity prevalences in breast cancer patients, it was clear that MBC patients tended to be prone to cardio-metabolic coexisting diseases, while FBC patients were more prone to hormone-, bone- and mental diseases. There were nine chronic conditions associated to MBC patients, but after a year-by-birth matching only four associations remained. Two of them were associated previously [odds ratio (95% confidence interval)]: “Disorder of lipid metabolism” [1.65 (1.03–2.64)] and “Genitourinary symptoms and ill-defined conditions” [2.03 (1.07–3.87)]; and the other two were new, “Anxiety disorders” [2.05 (1.09–3.87)] and “Osteoporosis” [3.58 (1.26–10.14)]. After comparing associated comorbidities in FBC with those in MBC, it seems MBC patients share some of them, but they have their own particular set of coexisting diseases. In fact, once a year-by-birth matching was performed in MBC patient cohort, it was more obvious MBC comorbidities behave more similar to none-Breast-Cancer male population than to FBC patients. These findings highlight the distinct characteristics of the MBC patient population and the need for a tailored approach of managing MBC.

Objective To investigate the clinical characteristics of the hepatolenticular degeneration in children, and to clarify the significance of gene diagnosis in children with hepatolenticular degeneration. Methods A total of 75 patients with hepatolenticular degeneration were enrolled in the Department of Pediatrics, Peking Union Medical College Hospital from 2011 to 2018. All of them carried out a generation of gene sequencing for ATPase Cu2+ transporting beta polypeptide (ATP7B) gene and multiplex ligation-dependent probe amplification (MLPA) analysis. Results Among the 75 pediatric patients, 55 patients were asymptomatic and had elevated aminotransferases as the incidental findings. All the pediatric patients had decreased ceruloplasmin. Seventy-two of pediatric patients had 24-hour urinary copper＞40 μg/d. There were 16 cases that had Kayser-Fleischer(K-F) rings. Sixteen six out of 75(21.33%)cases were diagnosed clinically and 15 cases were＞7 years old. All the remaining patients needed genetic diagnosis. Sixty-six patients had two mutations and 9 patients had only one mutation, 1 had no mutation. Forty eight different mutations were found to be localized in ATP7B gene. These mutations included 32 missense mutations, 6 splice mutations, 5 deletion mutations, 2 repeated mutations, 2 insert mutations and 1 nonsense mutations. The most frequently three mutations were c.2333G＞T,p.R778L,c.2621C＞T, p.A874V,c.2975C＞T, p.P992L,whose allele frequencies were 30.49%,14.89%,9.92%. Conclusions The research showed that in young aged patients, the nervous system symptoms are not obvious and the positive rate of laboratory tests are lower than adults so is a challenge to clinical diagnosis. So Genetic testing is of great significance for the early diagnosis and early treatment of disease in pediatric patients.

Abstract Background Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder affecting women of reproductive ages. Our previous study has implicated a possible link between RNA editing and PCOS, yet the actual role of RNA editing, its association with clinical features, and the underlying mechanisms remain unclear. Methods Ten RNA-Seq datasets containing 269 samples of multiple tissue types, including granulosa cells, T helper cells, placenta, oocyte, endometrial stromal cells, endometrium, and adipose tissues, were retrieved from public databases. Peripheral blood samples were collected from twelve PCOS and ten controls and subjected to RNA-Seq. Transcriptome-wide RNA-Seq data analysis was conducted to identify differential RNA editing (DRE) between PCOS and controls. The functional significance of DRE was evaluated by luciferase reporter assays and overexpression in human HEK293T cells. Dehydroepiandrosterone and lipopolysaccharide were used to stimulate human KGN granulosa cells to evaluate gene expression. Results RNA editing dysregulations across multiple tissues were found to be associated with PCOS in public datasets. Peripheral blood transcriptome analysis revealed 798 DRE events associated with PCOS. Through weighted gene co-expression network analysis, our results revealed a set of hub DRE events in PCOS blood. A DRE event in the eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2:chr2:37,100,559) was associated with PCOS clinical features such as luteinizing hormone (LH) and the ratio of LH over follicle-stimulating hormone. Luciferase assays, overexpression, and knockout of RNA editing enzyme adenosine deaminase RNA specific (ADAR) showed that the ADAR-mediated editing cis-regulated EIF2AK2 expression. EIAF2AK2 showed a higher expression after dehydroepiandrosterone and lipopolysaccharide stimulation, triggering changes in the downstrean MAPK pathway. Conclusions Our study presented the first evidence of cross-tissue RNA editing dysregulation in PCOS and its clinical associations. The dysregulation of RNA editing mediated by ADAR and the disrupted target EIF2AK2 may contribute to PCOS development via the MPAK pathway, underlining such epigenetic mechanisms in the disease.

Objective To investigate the clinical characteristics of the hepatolenticular degeneration in children, and to clarify the significance of gene diagnosis in children with hepatolenticular degeneration. Methods A total of 75 patients with hepatolenticular degeneration were enrolled in the Department of Pediatrics, Peking Union Medical College Hospital from 2011 to 2018. All of them carried out a generation of gene sequencing for ATPase Cu2+ transporting beta polypeptide (ATP7B) gene and multiplex ligation-dependent probe amplification (MLPA) analysis. Results Among the 75 pediatric patients, 55 patients were asymptomatic and had elevated aminotransferases as the incidental findings. All the pediatric patients had decreased ceruloplasmin. Seventy-two of pediatric patients had 24-hour urinary copper>40 µg/d. There were 16 cases that had Kayser-Fleischer (K-F) rings. Sixteen six out of 75(21.33%) cases were diagnosed clinically and 15 cases were >7 years old. All the remaining patients needed genetic diagnosis. Sixty-six patients had two mutations and 9 patients had only one mutation, 1 had no mutation. Forty eight different mutations were found to be localized in ATP7B gene. These mutations included 32 missense mutations, 6 splice mutations, 5 deletion mutations, 2 repeated mutations, 2 insert mutations and 1 nonsense mutations. The most frequently three mutations were c. 2333G>T, p. R778L, c. 2621C>T, p. A874V, c. 2975C>T, p. P992L, whose allele frequencies were 30. 49%, 14.89%, 9.92%. Conclusions The research showed that in young aged patients, the nervous system symptoms are not obvious and the positive rate of laboratory tests are lower than adults so is a challenge to clinical diagnosis. So Genetic testing is of great significance for the early diagnosis and early treatment of disease in pediatric patients. [ABSTRACT FROM AUTHOR]

Background: Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder affecting women of reproductive ages. Our previous study has implicated a possible link between RNA editing and PCOS, yet the actual role of RNA editing, its association with clinical features, and the underlying mechanisms remain unclear. Methods: Ten RNA-Seq datasets containing 269 samples of multiple tissue types, including granulosa cells, T helper cells, placenta, oocyte, endometrial stromal cells, endometrium, and adipose tissues, were retrieved from public databases. Peripheral blood samples were collected from twelve PCOS and ten controls and subjected to RNA-Seq. Transcriptome-wide RNA-Seq data analysis was conducted to identify differential RNA editing (DRE) between PCOS and controls. The functional significance of DRE was evaluated by luciferase reporter assays and overexpression in human HEK293T cells. Dehydroepiandrosterone and lipopolysaccharide were used to stimulate human KGN granulosa cells to evaluate gene expression. Results: RNA editing dysregulations across multiple tissues were found to be associated with PCOS in public datasets. Peripheral blood transcriptome analysis revealed 798 DRE events associated with PCOS. Through weighted gene co-expression network analysis, our results revealed a set of hub DRE events in PCOS blood. A DRE event in the eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2:chr2:37,100,559) was associated with PCOS clinical features such as luteinizing hormone (LH) and the ratio of LH over follicle-stimulating hormone. Luciferase assays, overexpression, and knockout of RNA editing enzyme adenosine deaminase RNA specific (ADAR) showed that the ADAR-mediated editing cis-regulated EIF2AK2 expression. EIAF2AK2 showed a higher expression after dehydroepiandrosterone and lipopolysaccharide stimulation, triggering changes in the downstrean MAPK pathway. Conclusions: Our study presented the first evidence of cross-tissue RNA editing dysregulation in PCOS and its clinical associations. The dysregulation of RNA editing mediated by ADAR and the disrupted target EIF2AK2 may contribute to PCOS development via the MPAK pathway, underlining such epigenetic mechanisms in the disease. [ABSTRACT FROM AUTHOR]

Reconstruction of lips after squamous cell carcinoma (SCC) removal should restore functional and aesthetic roles; however, it remains a challenge. In this study we describe the clinical features of lip SCC and suggest a reconstruction algorithm. We retrospectively analyzed 34 patients with lip SCC who underwent reconstruction after Mohs micrographic surgery between January 2006 and March 2022. The mean age of the patients was 70.2 years. Seven tumors were on the upper lip and 27 tumors were on the lower lip. Twenty‐five defects were located on the mucosal lip, eight defects involved both the mucosal and cutaneous lips, and one defect was confined to the cutaneous lip. Eighteen defects were smaller than 50% of the total lip size, and 16 were larger than 50%. Primary closure was mostly performed for defects smaller than 50% of the lip size (9/18 cases), and local flap, according to the location and size of the defects, was performed for larger defects. Thirteen patients experienced postoperative complications but improved within 1 year after surgery, except for one patient. We suggest a reconstruction algorithm with a 50% cut‐off value. Defects smaller than 50% of the lip size could be reconstructed by primary closure. Even larger defects could be reconstructed by creation of a local flap from the remaining adjacent tissue with minimal postoperative complications. [ABSTRACT FROM AUTHOR]

目的 探讨动脉内溶栓（intra-arterial thrombolysis，IAT）治疗视网膜中央动脉阻塞（central retinal artery occlusion，CRAO）患者的临床特征及功能性视觉恢复情况。 方法 纳入2018年1月—2023年8月西北大学附属第一医院神经内科和神经眼科连续收治的非动脉炎性CRAO患者，根据入院后是否进行IAT治疗分为IAT组和非IAT组。功能性视觉定义为 视力≥20/100。比较分析两组患者的临床特征和不同时间段（入院、出院时和出院1个月时）功能性视觉恢复情况。 结果 共纳入131例（131只眼）非动脉炎性CRAO患者，男性93例（71.0%），平均年龄为（61.6±12.6）岁， 其中IAT组57例（43.5%），非IAT组74例（56.5%）。与非IAT组患者相比，IAT组患者年龄更低[（58.4±12.5）岁 vs.（64.1±12.2）岁，P=0.011]、合并卒中病史者比例更低[10（17.5%）vs. 25（33.8%）， P=0.037]、发病至就诊时间更短[10.0（6.0～24.0）h vs. 55.0（20.2～162.0）h，P＜0.001]、醒后发病者比例更高[26（45.6%）vs. 15（20.3%），P=0.002]和患侧颈内动脉血管状态更佳（无狭窄∶轻度狭窄∶中-重度狭窄∶闭塞=41∶7∶7∶2 vs. 32∶11∶21∶10，P=0.006）。IAT组患者出院1个月时功能性视觉比例较非IAT组患者更高[25（43.9%）vs. 18（24.3%），P=0.018]，而入院和出院时差异无统计学意义 （P＞0.05）。多因素logistic回归分析显示，IAT组患者出院1个月时的功能性视觉较非IAT组患者显著改善（OR 3.24，95%CI 1.08～9.69，P=0.036）。IAT组患者术中发生眼动脉痉挛2例（3.5%）、穿刺部位皮肤出血2例（3.5%）和新发脑栓塞（均为无症状性栓塞）事件4例（7.0%）。 结论 是否进行IAT治疗的CRAO患者部分临床特征存在差异，IAT治疗可显著提高CRAO患者出院1个月时的功能性视觉，且手术安全性较好。提示临床医师需重视CRAO患者的IAT治疗，以期改善患者的视觉功能。 Abstract: Objective To investigate the clinical characteristics and functional visual recovery of patients with central retinal artery occlusion (CRAO) treated with intra-arterial thrombolysis (IAT). Methods The non-arteriotic CRAO patients admitted to the Department of Neurology and Neuro-ophthalmology of the First Affiliated Hospital of Northwest University from January 2018 to August 2023 were included. They were divided into IAT group and non-IAT group according to whether IAT was performed after admission. Functional vision is defined as visual acuity≥20/100. The clinical features and functional visual recovery at different time periods (admission, discharge and 1 month after discharge) were compared and analyzed between the two groups. Results A total of 131 patients (131 eyes) with non-arteriotic CRAO were included, including 93 males (71.0%) with a mean age of (61.6±12.6) years. There were 57 patients (43.5%) in IAT group and 74 patients (56.5%) in non-IAT group. Compared with patients in non-IAT group, patients in IAT group had younger age [(58.4±12.5) years vs. (64.1±12.2) years, P=0.011], lower proportion of stroke history [10 (17.5%) vs. 25 (33.8%), P=0.037], shorter time from onset to visit [10.0 (6.0-24.0) h vs. 55.0 (20.2-162.0) h, P0.05). Multivariate logistic regression analysis showed that the functional vision of CRAO patients in the IAT group at 1 month after discharge was significantly improved compared with those in the non-IAT group (OR 3.24, 95%CI 1.08-9.69, P=0.036). In the IAT group, ophthalmic artery spasm occurred in 2 cases (3.5%), skin bleeding at the puncture site in 2 cases (3.5%), and new cerebral embolism (all asymptomatic embolism) occurred in 4 cases (7.0%). Conclusions Some clinical features of CRAO patients who were treated with or without IAT were different. IAT can significantly improve the functional vision of CRAO patients at 1 month after discharge, and the surgical safety is good. This suggests that clinicians should pay more attention to IAT in CRAO patients in order to improve their visual function.

Jiewei Cui,1,&ast; Yang Li,2,&ast; Qingyan Du,3,&ast; Yuanhui Wei,1 Jinxia Liu,1 Zhixin Liang1 1College of Pulmonary & Critical Care Medicine, 8th Medical Center of Chinese PLA General Hospital, Beijing, 100091, People’s Republic of China; 2Department of Pulmonary and Critical Care Medicine, The First Hospital of Shanxi Medical University, Taiyuan, 030001, People’s Republic of China; 3Jiamei Dental Hospital, Beijing, 100143, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Zhixin Liang, Email liangzhixin301@163.comObjective: Bloodstream infection (BSI) is characterized by high mortality, especially among these increasing super-elderly patients (≥ 85 years), and this study was conducted to understand the species distribution, typical clinical features and risk factors for poor prognosis of super-elderly patients with BSI.Methods: Based on previous work, this retrospective study was performed by reviewing an ongoing prospective medical database in a comprehensive tertiary center in China, and all super-elderly patients with BSI in the past 6 years were enrolled in this study.Results: Out of 5944 adult-patients with BSI, there were totally 431 super-elderly patients (≥ 85 years old) enrolled in this study and age ≥ 90 years accounted for 31.1% (134/431). Among these 431 super-elderly patients with BSI, 40 patients (9.3%) were diagnosed with BSI and the remained 401 super-elderly patients (90.7%) were defined as hospital-acquired BSI. The typical feature of these super-elderly patients with BSI was the high proportion of patients with various comorbidities, such as cardiovascular disease (83.8%), ischemic cerebrovascular disease (63.3%) and pulmonary infection (61.0%). The other typical feature was that most (60.1%) of these patients had been hospitalized for long time (≥ 28 days) prior to the onset of BSI, and most patients had received various invasive treatments, such as indwelling central venous catheter (53.1%) and indwelling urinary catheter (47.1%). Unfortunately, due to these adverse features above, both the 7-day short-term mortality (13.2%, 57/431) and the 30-day long-term mortality (24.8%, 107/431) were high. The multivariate analysis showed that both chronic liver failure (OR 7.9, 95% CI 2.3– 27.8, P=0.001) and indwelling urinary catheter (OR 2.3, 95% CI 1.1– 4.7, P=0.023) were independent risk factors for 7-day short-term mortality, but not for 30-day long-term mortality. In addition, the microbiology results showed that the most common species were associated with nosocomial infection or self-opportunistic infection, such as Staphylococcus hominis (18.3%), Staphylococcus epidermidis (11.8%), Escherichia coli (9.7%), Klebsiella pneumoniae (9.3%) and Candida albicans (8.6%, fungi).Conclusion: Super-elderly patients with BSI had typical features, regardless of the pathogenic species distribution and their drug resistance, or clinical features and their risk factors for poor prognosis. These typical features deserved attention and could be used for the prevention and treatment of BSI among super-elderly patients.Keywords: bloodstream infection, elderly, species, risk factor, mortality, aging, central venous catheter, clinical feature

Objective To explore the value of magnetic resonance imaging (MRI) and clinical features in identifying ovarian thecoma-fibroma (OTF) with cystic degeneration and ovary adenofibroma (OAF). Methods A total of 40 patients with OTF (OTF group) and 28 patients with OAF (OAF group) were included in this retrospective study. Univariable and multivariable analyses were performed on clinical features and MRI between the two groups, and the receiver operating characteristic (ROC) curve was plotted to estimate the optimal threshold and predictive performance. Results The OTF group had smaller cyst degeneration degree (P  <  .001), fewer black sponge sign (20% vs. 53.6%, P  =  .004), lower minimum apparent diffusion coefficient value (ADCmin) (0.986 (0.152) vs. 1.255 (0.370), P  <  .001), higher age (57.4 ± 14.2 vs. 44.1 ± 15.9, P  =  .001) and more postmenopausal women (72.5% vs. 28.6%, P  <  .001) than OAF. The area under the curve of MRI, clinical features and MRI combined with clinical features was 0.870, 0.841, and 0.954, respectively, and MRI combined with clinical features was significantly higher than the other two (P  <  .05). Conclusion The cyst degeneration degree, black sponge sign, ADCmin, age and menopause were independent factors in identifying OTF with cystic degeneration and OAF. The combination of MRI and clinical features has a good effect on the identification of the two. Advances in knowledge This is the first time to distinguish OTF with cystic degeneration from OAF by combining MRI and clinical features. It shows the diagnostic performance of MRI, clinical features, and combination of the two. This will facilitate the discriminability and awareness of these two diseases among radiologists and gynaecologists. [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Stroke is the property of Chinese Journal of Stroke Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

AIM: To describe the clinical, electrophysiological, and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant. METHODS: The patient underwent a complete ophthalmologic examination including best-corrected visual acuity, anterior segment and dilated fundus, visual field, spectral-domain optical coherence tomography (OCT) and electroretinogram (ERG). The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the result. Then we reviewed the characteristics of the patients reported with the same variant. RESULTS: A 30-year male presented with severe early retinal degeneration who complained night blindness, decreased visual acuity, vitreous floaters and amaurosis fugax. The best corrected vision was 0.04 OD and 0.12 OS, respectively. The fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left eye. Autofluorescence shows bilateral symmetrical hypo-autofluorescence. ERG revealed that the amplitudes of a- and b-wave were severely decreased. Multifocal ERG showed decreased amplitudes in the local macular area. A homozygous missense variant c.146C>T (chr14:68191267) was found. The clinical characteristics of a total of 13 patients reported with the same pathologic variant varied. CONCLUSION: An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are reported. The clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease.

Objective To investigate the clinical characteristics and postoperative follow-up of gliosarcoma (GSM). Methods The clinical data of 13 patients with GSM who underwent surgery at the Affiliated Hospital of Guizhou Medical University from August 2012 to July 2020 were retrospectively analyzed, including basic clinical features, preoperative imaging features, and postoperative molecular pathological findings. Follow-up was performed, until the patient died. Results 8 male and 5 female patients with GSM were collected. The average age was 51.69 years old, ranging from 23 to 70 years old. The chief complaints of most patients were dizziness and headache, and the mainly located on the supratentorial region. Preoperative MRI showed that the lesions were mainly lumpy in T1WI and T2WI. T1 enhanced MRI revealed annular enhancement or irregular enhancement. All the pathological diagnosis after operation indicated both glioblastoma components and sarcoma components, and reticulofibers staining was positive, staining by positive cells of glial fibrillary acidic protein, vimentin, S-100 and Olig-2. Postoperative radiotherapy was 3 cases and temozolomide chemotherapy was 8 cases. Postoperative follow-up revealed recurrence in 5 cases, including 3 of primary focus recurrence, 1 of extracranial metastasis via cerebrospinal fluid, and 1 of metastasis to medulla oblongata and the fourth ventricle, with 8.47 months of the overall median survival. Conclusions GSM,mainly diagnosed by pathological features, was rare and relapsed easily. Generally, GSM transfers to adjacent brain tissues and metastasized natural anatomical pathways, with poor prognosis. [ABSTRACT FROM AUTHOR]

Introduction: Patients with hen's egg allergy are often instructed to avoid consuming other avian eggs, such as quail eggs. However, it is unclear whether patients with an acquired tolerance to hen eggs continue to avoid consuming quail eggs. This study aimed to evaluate the clinical features of quail egg ingestion. Methods: This prospective case series included children aged ≥1 year with hen's egg allergy who were recruited between October 2019 and February 2021 in our hospital. We conducted an oral food challenge (OFC) with three boiled quail eggs to evaluate the clinical features of quail egg ingestion in patients with acquired tolerance to hen eggs. The primary outcome was a positive OFC after ingesting three quail eggs. Secondary outcomes were cross-antigenicity between hen and quail eggs observed through the skin prick test (SPT) and pattern of quail egg allergy, comprising the onset of reaction, and severity. The correlation between the diameters of the wheals with SPT in hen and quail eggs was evaluated using the Pearson product-moment correlation coefficient. Results: A total of 62 patients underwent the quail egg OFC. The median (interquartile range) age of the participants was 3 (2–5) years. Thirty-three (53%) patients had a history of anaphylaxis due to hen eggs. The median total immunoglobulin E (IgE) level in patients who underwent the OFC with half a heated whole hen's egg was 271 (98–593) IU/mL. The median specific IgE level in egg white and ovomucoid was 9.7 (3.2–21.5) and 4.4 (1.3–6.9) UA/mL, respectively. The quail egg OFC results revealed that none of the 59 patients who ate the three quail eggs completely had an allergic reaction. The SPT-positive and SPT-negative rates in raw and boiled hen and quail egg whites were both correlated. The diameters of wheals with SPT in raw hen and quail egg whites and yolks were positively correlated. Conclusion: Patients with an acquired tolerance to hen eggs may not be required to avoid consuming quail eggs. [ABSTRACT FROM AUTHOR]

Clear cell meningiomas are a rare histological subtype of World Health Organization (WHO) grade II meningioma. Despite its relatively low frequency, clear cell meningioma has attracted considerable attention because of its unique pathological characteristics, clinical behavior, and challenging management considerations. The purpose of our systematic review is to provide clinicians with a better understanding of this rare disease. PubMed was searched for articles in the English language published from 1988 to 2023 June. The keywords were as follows: "clear cell meningioma," "clear cell" and "meningioma." We analyzed clinical manifestations, radiological manifestations, pathological features, comprehensive treatment strategies, and prognosis to determine the factors influencing recurrence-free survival (RFS). Recurrence-free survival curves of related factors were calculated by the Kaplan‒Meier method. The log-rank test and Cox univariate analysis were adopted to assess the intergroup differences and seek significant factors influencing prognosis and recurrence. Fifty-seven papers met the eligibility criteria, including 207 cases of clear cell meningioma (CCM), which were confirmed by postoperative pathology. The fifty-seven articles involved 84 (40.6%) males and 123 (59.4%) females. The average age at diagnosis was 27.9 years (range, 14 months to 84 years). Among the symptoms observed, headache, neurologic deficit, and hearing loss were the most commonly reported clinical manifestations. Most tumors (47.8%) were located in the skull base region. Most tumors showed significant enhancement, and homogeneous enhancement was more common. A total of 152 (74.1%) patients underwent gross total resection (GTR), and 53 (25.9%) patients underwent subtotal resection (STR). During the follow-up, the tumor recurred in 80 (39.4%) patients. The log-rank test and the Cox univariate analysis revealed that tumor resection range (GTR vs. STR) and adjuvant treatment (YES vs. NO) were significant predictors of recurrence-free survival (RFS). Clear cell meningioma is a rare type of meningioma with challenging diagnosis and therapy. The prognosis of this disease is different from that of regular meningiomas. Recurrence remains a possibility even after total tumor resection. We found that the surgical resection range and adjuvant treatment affected the recurrence period. This finding provides significant guidance for the treatment of clear cell meningioma. [ABSTRACT FROM AUTHOR]

Introduction: We report our experience regarding the clinical features and pathological findings of the calcification of the ligamentum flavum (CLF) and ossification of the ligamentum flavum (OLF) in the spine. In addition, we reviewed the previous studies on CLF and OLF to enhance the understanding of these conditions. Materials and Methods: We compared the clinical, radiological, and histopathological features of CLF and OLF. Results: In CLF, a computed tomography (CT) scan showed egg-shaped or speck-like calcification in the ligamentum flavum. Magnetic resonance (MR) imaging demonstrated spinal cord compression due to a thickened ligamentum flavum, which appeared as a low-intensity mass. Pathological findings demonstrated fused islands of calcification resembling sand-like calcification. In OLF, CT showed beak-like ossification extending into the intervertebral foramen. MR imaging demonstrated spinal cord compression by a low-intensity mass. Pathological findings revealed laminar ossification of LF with chondrocytes near the calcification and laminar hyaline cartilage. Conclusions: CLF and OLF appear to be distinct entities based on their clinical, neuroradiological, histopathological, and pathogenetic features. We suggest that the causes of CLF include both metabolic and dystrophic factors, while the pathogenesis of OLF is characterized by enchondral ossification induced by a genetic cascade triggered by shearing/tension stress. [ABSTRACT FROM AUTHOR]

On 23 July 2022, the World Health Organization declared the global mpox outbreak as a public health emergency of international significance. The mpox virus (MPXV) that caused the outbreak was classified as clade IIb, which belongs to the West African clade. However, the relationship between MPXV clades and symptoms, as well as the severity of mpox outcomes, is not fully understood. Thus, we aimed to investigate the global mpox prevalence and the differences in clinical manifestations and outcomes among patients with mpox between pre‐outbreak (2003–2021) and the current mpox outbreak. In this systematic review and meta‐analysis, PubMed/MEDLINE, Web of Science, Embase, Cumulative Index to Nursing and Allied Health Literature, and Google Scholar were searched using the keyword "monkeypox" and "mpox" up to 13 October 2022. A random effects model was used to obtain the pooled prevalence and 95% confidence intervals. This study included 27 articles, and 5698 patients with mpox with 19 distinctive features from 19 countries across five continents were assessed. Patients with mpox during the 2022 mpox outbreak showed mild clinical manifestations and outcomes compared with those before the 2022 mpox outbreak: mild rash (relative ratio [RR]: 5.09, 95% confidence interval [CI]: 1.52–17.08), fever (0.68, 0.49–0.94), pruritus (0.25, 0.19–0.32), myalgia (0.50, 0.31–0.81), headache (0.56, 0.35–0.88), skin ulcer (0.32, 0.17–0.59), abdominal symptom (0.29, 0.20–0.42), pharyngitis (0.32, 0.18–0.58), nausea or vomiting (0.15, 0.02–0.93), conjunctivitis (0.11, 0.03–0.38), concomitant infection with HIV (1.70, 0.95–3 0.04), and death (0.02, 0.001–0.31). MPXV clade IIb exhibited higher infectivity but may cause mild disease symptoms and low mortality rate. It is important to consider MPXV infection in patients with mpox‐related features and/or a history of sexual transmission to prevent the spread of the disease and recognise the current pandemic threat. [ABSTRACT FROM AUTHOR]

Objective: Nasal or extranasal natural killer/T-cell lymphoma (NKTCL) is a very rare aggressive lymphoma, but it is increasingly diagnosed. To evaluate some specificity by comparative analysis between primary upper aerodigestive tract (UAT) and non-upper aerodigestive tract (NUAT)NKTCL. Methods: A retrospective analysis was performed on NKTCL patients from January 2013 to November 2022 in our cancer center. Results: The majority of the lesions were UAT-NKTCL 70 cases (92.1%), the primary NUAT occurred in 6 cases. Patients in the UAT group were mainly in the early stage and in the low and medium risk, while those in the NUAT group were late stage and in high risk (p = 0.000). The expressions of CD3 and TIA-1 in UAT group were higher than those in NUAT group (p = 0.031, p = 0.003), while CD7 was dominant in NUAT group (p = 0.009). For early stage NKTCL, multivariate analysis suggested that gender and PINK score were independent factors affecting PFS and OS (p < 0.05). The 3 year OS rate in initial CR group was 90.1% versus 46.4% in non-CR group (p = 0.000). In advanced stage, KI67% and bone marrow involvement were independent factors affecting OS (p = 0.022, p = 0.038). Conclusion: It was difficult to distinguish between UAT and NUAT-NKTCL from histopathology. NUAT-NKTCL patients did have advanced stage and poor outcome. The prognostic value of PINK score and bone marrow involvement was proposed. We aimed to improve initial CR rates, as well as to find new predictive models to predict the whole population. [ABSTRACT FROM AUTHOR]

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OBJECTIVES This study aims to determine Cutaneous Leishmaniasis’s epidemiological and clinical characteristics (CL) in the Mohmand district. METHODOLOGY This descriptive cross-sectional study was conducted at District Headquarters (DHQ) Ghallanai, District Mohmand, involving 360 patients with cutaneous Leishmaniasis. Individuals with coinfections or other skin diseases were intentionally excluded. Data, including gender, age, socio-economic status, size, site, and number of lesions, were recorded. CL was compared among age groups, gender, and socio-economic status using the chi-square test. \RESULTS The mean age was 10.72 ± 5.94 years, with 137 (38.06%) females and 223 (61.94%) males. Most patients suffering from CL had a low socio-economic status (n=175, 48.61%), followed by the middle (n=126, 35%). A minority reported a habit of sleeping on the ground (n=43, 11.94%). About 53 (14.72%) had multiple lesions. The location of lesions varied, with 66 (18.33%) on the arm, 229 (63.61%) on the head, neck, and face, and 65 (18.06%) on the leg. The association of the number of lesions (p=0.61), size of the lesion (p=0.47), and location of the lesion (p=0.27) was not statistically significant. Multiple lesions of CL were more common in the low socio-economic group (n=30, 56.6%) than in the middle (n=10, 18.8%) and high-class (n=13, 24.6%) groups, and the results were statistically significant (p=0.019). Most lesions were on the head, neck, and face, with the highest percentage in the low socio-economic group (66.86%). The rate of lesions on the leg was highest in the middle socio-economic group (19.84%), followed by the low (12.57%) and high (30.51%) groups. The differences in location were statistically significant (p=0.032). CONCLUSION Cutaneous Leishmaniasis (CL) disproportionately affects children, particularly males and those with lower socio-economic status. We observed a notable link between lesion characteristics and socio-economic status.

Abstract Background Early-onset pharyngeal airway collapse (PAC) in infants, which presents with onset within 6-months old is relatively rare. This disease has not been given enough attention in clinic. The aim of this study was to explore the clinical features, endoscopic findings and outcomes of early-onset PAC in infants. Methods The children of PAC with onset within 6-months old were included. A retrospective study was conducted. Results (1) Total 26 cases were included. The age of onset was neonatal period in 20 cases, 1 to 3-months old in 5 cases, and 4 to 6-months old in 1 case. (2) The main clinical manifestations were noisy breathing (26/26), suprasternal retraction (18/26), snoring (14/26) and hypoxic episode (13/26). (3) Based on the endoscopic findings, collapse at the retropalatal level was most common (24/26). (4) Twelve cases underwent pharyngolaryngeal CT examination, which revealed abnormal findings in 7 cases. (5) Fifteen cases were accompanied with the other airway malformations. (6) In the group with comorbidities of cerebral impairment or craniofacial abnormalities, 1 case was lost to follow up, 4 cases died, and 10 cases survived, in which 9 cases had neurodevelopmental disorders. In the group without comorbidities, 2 cases were lost to follow up, 9 cases survived, in which 1 case had neurodevelopmental disorders. The incidence of poor prognosis including death and neurodevelopmental disorders was significantly higher in the group with comorbidities than that without comorbidities (P

Objective·To analyze the clinical characteristics and prognostic risk factors of patients with diffuse large B-cell lymphoma (DLBCL), and evaluate the prognostic effects of autologous stem cell transplantation (ASCT) and rituximab maintenance therapy on DLBCL patients.Methods·The clinical data of 160 patients with DLBCL who were first diagnosed by pathology and immunotyping were collected from the Department of Hematology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine from January 2015 to January 2020, and the risk factors affecting the efficacy and prognosis of patients were analyzed. Moreover, the clinical characteristics of patients with relapsed/refractory DLBCL and the effect of salvage ASCT on overall survival (OS) were assessed. For those high-risk patients who achieved complete remission (CR) in the interim assessment, the impact of ASCT and rituximab maintenance therapy on survival outcomes was further assessed.Results·Patients with initial age of treatment >60 years (P=0.005), International Prognostic Index (IPI) 3‒5 scores (P=0.032), low albumin level (P=0.001) and anemia (P=0.007) had poor efficacy. Multivariate analysis showed that the initial age of treatment >60 years (HR=2.788, 95%CI 1.575‒4.936, P=0.000), non-GCB subtype (HR=2.230, 95%CI 1.150‒4.324, P=0.018), elevated lactate dehydrogenase level (HR=2.064, 95%CI 1.006‒4.234, P=0.048) and low albumin level (HR=2.052, 95% CI 1.169‒3.602, P=0.012) were the independent risk factors for progression-free survival (PFS). The initial age of treatment >60 years (HR=2.269, 95% CI 1.060‒4.860, P=0.035) and IPI scores of 3 to 5 (HR=2.557, 95%CI 1.132‒5.778, P=0.024) were independent factors affecting OS. For patients with relapsed/refractory DLBCL, salvage ASCT was found to significantly improve the prognosis of these patients and was a protective factor for the death event of patients (P=0.030). For patients in the high-risk group who achieved CR in the interim evaluation after chemotherapy, there were no deaths in patients on maintenance therapy with consolidation ASCT and rituximab to the end point of follow-up; however, it did not prolong the OS of the patients (P>0.05).Conclusion·In patients with relapsed/refractory DLBCL, salvage ASCT can significantly prolong the OS, whereas in the high-risk patients of DLBCL, consolidation ASCT and rituximab maintenance therapy can't prolong the OS.

Abstract Background Nonsecretory multiple myeloma (NSMM) is a rare type of multiple myeloma (MM). Few studies have described the clinical features and outcomes of NSMM in novel agents. Additionally, the prognostic characteristics have remained controversial in recent years. Purpose To investigate the clinical and prognostic features of NSMM and explore the prognostic value of involved free light chain (FLC) levels in NSMM patients in the Chinese population. Methods We retrospectively enrolled 176 newly diagnosed NSMM cases between January 2005 and December 2021 from 19 clinical centers in China. The control group was selected using a 1:4 propensity score matching technique of newly diagnosed secretory MM, with age, sex and diagnosis time as the matching variables. Results The median age of NSMM patients was 60 years, and 22.6% of patients were classified as ISS stage 3. The ORR of the NSMM patients was 87.4%, and the CR was 65.8%. Compared to the matched secretory MM patients, more NSMM patients achieved CR after first-line treatment (65.8% vs. 36%, p = 0.000). The ORR of first-line treatment was not significantly different between NSMM and secretory MM (89.45% vs. 84.7%, p = 0.196). The first-line PFS was 27.5 m and 23 m (p = 0.063), and the median OS was 81 m and 70 months (p = 0.401). However, for CR-achieved NSMM and CR-not-achieved NSMM patients, the median PFS was 37 m vs. 16 m (p = 0.021), while the median OS showed no difference (107 m vs. 87 m, p = 0.290). In multivariate analysis, the significant factors for PFS were age ≥ 65 and ISS-3. ISS-3 was the only independent prognostic factor of OS. The iFLC ≥ 50 mg/L group had a high ORR of 97.3%, and the median PFS and OS were 48 m and NR, respectively. Compared to the matched secretory MM, the iFLC ≥ 50 mg/L group also showed more CR and longer OS (NR vs. 70 m, p = 0.006) and PFS (48 m vs. 23 m, p = 0.003). Conclusions Our results revealed that Chinese NSMM patients are younger and have a higher CR but not superior survival. The subgroup of NSMM patients with iFLC ≥ 50 mg/L had better outcomes than secretory MM.

Abstract Background Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. In the present study, we reviewed the internationally published reports on SDS patients, in order to summarize the clinical features, epidemiology, and treatment of SDS. Methods We searched the WangFang and China National Knowledge Infrastructure databases with the keywords “Shwachman-Diamond syndrome,” “SDS,” “SBDS gene” and “inherited bone marrow failure” for relevant articles published from January 2002 to October 2022. In addition, studies published from January 2002 to October 2022 were searched from the Web of Science, PubMed, and MEDLINE databases, using “Shwachman-diamond syndrome” as the keyword. Finally, one child with SDS treated in Tongji Hospital was also included. Results The clinical features of 156 patients with SDS were summarized. The three major clinical features of SDS were found to be peripheral blood cytopenia (96.8%), exocrine pancreatic dysfunction (83.3%), and failure to thrive (83.3%). The detection rate of SDS mutations was 94.6% (125/132). Mutations in SBDS, DNAJC21, SRP54, ELF6, and ELF1 have been reported. The male-to-female ratio was approximately 1.3/1. The median age of onset was 0.16 years, but the diagnostic age lagged by a median age of 1.3 years. Conclusions Pancreatic exocrine insufficiency and growth failure were common initial symptoms. SDS onset occurred early in childhood, and individual differences were obvious. Comprehensive collection and analysis of case-related data can help clinicians understand the clinical characteristics of SDS, which may improve early diagnosis and promote effective clinical intervention.

Abstract Background There are few studies on acute-on-chronic liver failure (ACLF) in patients with recompensated cirrhosis. This study was aimed to investigate the clinical features of ACLF patients with recompensated cirrhosis. Methods A total of 461 ACLF patients were enrolled and divided into three groups: compensated, recompensated, and decompensated cirrhosis with ACLF. The baseline clinical data and 1-year survival rates were compared among the three groups. Results Compared with the decompensated group, in the recompensated group, the levels of hemoglobin, albumin, and serum sodium were significantly higher and the white blood cell count, international normalized ratio, and incidence of respiratory failure were significantly lower; there were no evident differences in other organ failures. The proportion of patients with ACLF grade 3 and 1-year survival rates significantly differed between the two groups. Conversely, compared with the compensated group, in the recompensated group, the platelet and total bilirubin levels were significantly lower and the proportion of patients with ACLF grade 1 was significantly higher. However, other clinical indicators or 1-year survival rates did not significantly differ between the two groups. Conclusions Compared with patients who developed ACLF with decompensated cirrhosis, those who developed ACLF with recompensated cirrhosis had a less severe condition, lower incidence of respiratory failure, and better 1-year prognosis. However, the baseline clinical features and prognosis were similar between ACLF patients with recompensated and compensated cirrhosis. Trial registration Chinese clinical trials registry: ChiCTR1900021539.

BackgroundGender and age differences in the clinical manifestations of patients with bipolar disorder can affect the clinical diagnosis and treatment process. The current treatment effect of bipolar disorder in adolescents is not ideal， which has become the main reason for disability during the learning period.ObjectiveTo analyze the clinical features and medication therapy status of bipolar disorder in adolescents， and to provide references to support for personalized diagnosis and treatment.MethodsOn January 16， 2023， 1 169 patients with bipolar disorder who were hospitalized at Beijing Anding Hospital Affiliated Capital Medical University from January 1， 2014 to December 31， 2017 were retrospectively enrolled. Medical records were collected and analyzed to compare the clinical features among patients of different gender and age groups， and to explore the differences in medication use among patients of different genders in different types of seizures.ResultsMale patients reported a larger proportion of manic episodes， and a smaller proportion of depressive episodes than female patients （P

Purpose We evaluated the clinical characteristics of patients undergoing cardiac magnetic resonance (CMR) examinations over 10 years at a tertiary referral hospital. Methods This retrospective study included 11,087 CMR examinations performed between November 2009 and September 2020. The number of adults aged ≥20 years was 10,648 (72.8% males). A total of 439 children or young adults aged < 20 years underwent CMR (66.5% males). Indications for CMR examinations were classified according to the Consensus Panel recommendations of the Society for Cardiovascular Magnetic Resonance (SCMR). Results The mean age was 55.9±12.4 years for adults. Forty percent of patients were obese. Leading cardiovascular risk factors were hypertension, dyslipidemia, diabetes mellitus, and current smoking status in 28.2%, 19.1%, 13.8%, and 25.4% of patients, respectively. The proportion of stress CMR examinations performed was 57.2%. For children, the mean age was 12.6±5.3 years. Most children underwent a non-stress CMR test. In adults without congenital heart disease, indication numbers for SCMR classes were 5,682 for class I (49.4%), 772 for class II (6.7%), 313 for class III (0.3%), and 4,714 for investigational group (41.1%). In pediatric patients and adults with congenital heart disease, indication numbers for SCMR classes were 539 for class I (80.3%), 62 for class II (9.2%), and 70 for the investigational group (10.4%). Conclusion CMR is most commonly performed in men in their 50s or 60s. CMR may be used as the first-line imaging technique (SCMR class I) in around a half of adult patients and in most pediatric patients.

ContextThe highly infectious Omicron variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have caused large-scale transmission from Dec 2022 to Feb 2023 in China. After this event, a remarkable surge of influenza A (Flu A) occurred from March to May 2023, especially in pediatric patients.ObjectivesThis study aimed to investigate the differences between pediatric patients infected with COVID-19 Omicron and Flu A virus.MethodsA total of 1,063 hospitalized children who admitted into two tertiary general hospital of Guangdong province of China were included. Medical records were compared retrospectively in these patients during the pandemic periods of SARS-CoV-2 omicron and Flu A.ResultsA total of 592 Patients with Flu A were mostly preschool and school-aged (>3y, 76.0%), they showed higher ratio of high fever (≥39°C), cough, rhinorrhea, and vomiting than patients with SARS-CoV-2 omicron. Most of the 471 Omicron patients were young children (0–3y, 74.5%) and had more poor appetite and dyspnea symptom. Benign acute children myositis (BACM) was only observed in patients with Flu A, and a significant male predominance. Multisystem inflammatory syndrome in children (MIS-C) was only found in patients with SARS-CoV-2 Omicron. Compared to the SARS-CoV-2 Omicron group, for both age groups (0–3 years and > 3 years), the Flu A group showed significantly reduced lymphocyte (Lym) counts (P < 0.001), and elevated levels of aspartate aminotransferase (AST), lactate dehydrogenase (LDH), and creatinine kinase-MB (CK-MB) in laboratory indexes (all P < 0.001). Additionally, it was found that more children hospitalized with COVID-19 had increased C-reactive protein (CRP) levels compared to those with Flu A.ConclusionInfluenza A infections have notably surged in children, coinciding with the relaxation of COVID-19 related social restrictions. During the epidemic periods of Omicron and Flu A virus infection, different clinical and laboratory characteristics were observed in hospitalized children.

Epidermolysis bullosa acquisita (EBA) rarely develops in childhood. This study retrospectively recruited paediatric patients with EBA (age ≤ 16 years), diagnosed by clinical and histopathological features and results of immunofluorescence, immunoblotting and enzyme-linked immunosorbent assay (ELISA), and reviews their clinical manifestations, histopathology, immunological features, and responses to various treatments. All 7 included patients presented with inflammatory EBA. Among them, 3 had a bullous pemphigoid-like phenotype. Pathologically, in addition to dermal–epidermal blistering, in all patients, the distribution of neutrophils was superficial perivascular or interstitial, or in the dermal papilla. Mixed neutrophils and eosinophils were detected in 2 of the 3 patients with bullous pemphigoid-like phenotypes. In addition to treatment with glucocorticoids, dapsone was administered in 4 patients, while thalidomide and sulfasalazine were administered in 1 patient. All patients responded to the these therapies. Relapse was mainly due to reduction and cessation of glucocorticoids. In conclusion, EBA in childhood may be unique, and thus distinct from its adult counterpart. Specific treatment and follow-up protocols are required for therapy of this rare autoimmune skin disease in children.

Background: Early-onset pharyngeal airway collapse (PAC) in infants, which presents with onset within 6-months old is relatively rare. This disease has not been given enough attention in clinic. The aim of this study was to explore the clinical features, endoscopic findings and outcomes of early-onset PAC in infants. Methods: The children of PAC with onset within 6-months old were included. A retrospective study was conducted. Results: (1) Total 26 cases were included. The age of onset was neonatal period in 20 cases, 1 to 3-months old in 5 cases, and 4 to 6-months old in 1 case. (2) The main clinical manifestations were noisy breathing (26/26), suprasternal retraction (18/26), snoring (14/26) and hypoxic episode (13/26). (3) Based on the endoscopic findings, collapse at the retropalatal level was most common (24/26). (4) Twelve cases underwent pharyngolaryngeal CT examination, which revealed abnormal findings in 7 cases. (5) Fifteen cases were accompanied with the other airway malformations. (6) In the group with comorbidities of cerebral impairment or craniofacial abnormalities, 1 case was lost to follow up, 4 cases died, and 10 cases survived, in which 9 cases had neurodevelopmental disorders. In the group without comorbidities, 2 cases were lost to follow up, 9 cases survived, in which 1 case had neurodevelopmental disorders. The incidence of poor prognosis including death and neurodevelopmental disorders was significantly higher in the group with comorbidities than that without comorbidities (P<0.01). (7) An symptomatic improvement of PAC was found in the majority of the survived cases (18/19) with age. Conclusions: Early-onset PAC in infants usually exhibits varying degrees of relief with age, whereas the cases with comorbidities had a poor prognosis. [ABSTRACT FROM AUTHOR]

Background: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. In the present study, we reviewed the internationally published reports on SDS patients, in order to summarize the clinical features, epidemiology, and treatment of SDS. Methods: We searched the WangFang and China National Knowledge Infrastructure databases with the keywords "Shwachman-Diamond syndrome," "SDS," "SBDS gene" and "inherited bone marrow failure" for relevant articles published from January 2002 to October 2022. In addition, studies published from January 2002 to October 2022 were searched from the Web of Science, PubMed, and MEDLINE databases, using "Shwachman-diamond syndrome" as the keyword. Finally, one child with SDS treated in Tongji Hospital was also included. Results: The clinical features of 156 patients with SDS were summarized. The three major clinical features of SDS were found to be peripheral blood cytopenia (96.8%), exocrine pancreatic dysfunction (83.3%), and failure to thrive (83.3%). The detection rate of SDS mutations was 94.6% (125/132). Mutations in SBDS, DNAJC21, SRP54, ELF6, and ELF1 have been reported. The male-to-female ratio was approximately 1.3/1. The median age of onset was 0.16 years, but the diagnostic age lagged by a median age of 1.3 years. Conclusions: Pancreatic exocrine insufficiency and growth failure were common initial symptoms. SDS onset occurred early in childhood, and individual differences were obvious. Comprehensive collection and analysis of case-related data can help clinicians understand the clinical characteristics of SDS, which may improve early diagnosis and promote effective clinical intervention. [ABSTRACT FROM AUTHOR]

Background and purpose: Sudden sensorineural hearing loss (SSNHL) can be a prodromal symptom of ischemic stroke, especially posterior circulation strokes in the anterior inferior cerebellar artery (AICA) area. Early diagnosis and optimal treatment for vascular SSNHL provide an opportunity to prevent more extensive area infarction. The objective of our research was to find clues that suggest stroke at the stage of isolated sudden hearing loss. Methods: We retrospectively investigated the medical records of patients who received an initial diagnosis of sudden sensorineural hearing loss upon admission from January 2017 to December 2022 at Capital Medical University Affiliated Beijing Tiantan Hospital. Among these patients, 30 individuals who developed acute ischemic stroke during their hospital stay were enrolled as the case group. To create a control group, we matched individuals from the nonstroke idiopathic SSNHL patients to the case group in terms of age (±3 years old) at a ratio of 1:4. We collected the clinical characteristics, pure tone hearing threshold test results, and imaging information for all patients included in the study. Results: Three models were constructed to simulate different clinical situations and to identify vascular sudden sensorineural hearing loss (SSNHL). The results revealed that patients with SSNHL who had three or more stroke risk factors, bilateral hearing loss, moderately severe to total hearing loss, and any intracranial large artery stenosis and occlusion (≥50%) were at a higher risk of developing ischemic stroke during hospitalization. Consistent with previous studies, the presence of vertigo at onset also played a significant role in the early detection of upcoming stroke. Conclusion: Clinicians should be alert to SSNHL patients with bilateral hearing loss, moderately severe to total hearing loss and other aforementioned features. Early pure tone audiometric hearing assessment and vascular assessment are necessary for high-risk patients with SSNHL. [ABSTRACT FROM AUTHOR]

Background: Sudden sensorineural hearing loss (SSNHL) in patients with singlesided deafness (SSD) is rare. The prognosis of the sole serviceable hearing ear is very important for these patients. However, the clinical characteristics and prognosis of SSNHL in SSD patients are not well-documented. Objective: This study aimed to investigate the clinical features and treatment outcomes of SSNHL in SSD patients. Methods: Clinical data of 36 SSD patients and 116 non-SSD patients with unilateral SSNHL from January 2013 to December 2022 were retrospectively investigated. The clinical characteristics of the SSD patients were analyzed. All SSD patients were treated with intratympanic steroids plus intravenous steroids. Pure-tone average (PTA) and word recognition score (WRS) before and after treatment were recorded. The hearing recovery of SSNHL in SSD patients in comparison with non-SSD patients was explored. Auditory outcomes in SSD patients with different etiologies were also compared. Results: Initial hearing threshold showed no significant differences between the SSD group and the non-SSD group (66.41 ± 24.64 dB HL vs. 69.21 ± 31.48 dB HL, p = 0.625). The SSD group had a higher post-treatment hearing threshold (median (interquartile range, IQR) 53.13(36.56) dB HL) than the non-SSD group (median 32.50(47.5) dB HL, p < 0.01). Hearing gains (median 8.75(13.00) dB) and the rate of significant recovery (13.89%) were lower in the SSD group than in the non-SSD group (median 23.75(34.69) dB, 45.69%). The etiology of SSD was classified as SSNHL, special types of infection, chronic otitis media, and unknown causes. SSNHL accounted for the maximum proportion (38.9%) of causes of SSD in the SSD group. Hearing gains were lower in the SSNHL-SSD group than in other causes of the SSD group. A binary logistic regression analysis demonstrated that SSD serves as an indicator of unfavorable hearing recovery outcomes (OR = 5.264, p < 0.01). Conclusion: The prognosis of SSNHL in SSD patients is unsatisfactory. SSNHL accounts for the maximum proportion of causes of SSD in this group of patients. For SSD patients caused by SSNHL, less hearing improvement after treatment was expected when SSNHL occurred in the contralateral ear in comparison with SSD patients with other causes. [ABSTRACT FROM AUTHOR]

Background: Nonsecretory multiple myeloma (NSMM) is a rare type of multiple myeloma (MM). Few studies have described the clinical features and outcomes of NSMM in novel agents. Additionally, the prognostic characteristics have remained controversial in recent years. Purpose: To investigate the clinical and prognostic features of NSMM and explore the prognostic value of involved free light chain (FLC) levels in NSMM patients in the Chinese population. Methods: We retrospectively enrolled 176 newly diagnosed NSMM cases between January 2005 and December 2021 from 19 clinical centers in China. The control group was selected using a 1:4 propensity score matching technique of newly diagnosed secretory MM, with age, sex and diagnosis time as the matching variables. Results: The median age of NSMM patients was 60 years, and 22.6% of patients were classified as ISS stage 3. The ORR of the NSMM patients was 87.4%, and the CR was 65.8%. Compared to the matched secretory MM patients, more NSMM patients achieved CR after first-line treatment (65.8% vs. 36%, p = 0.000). The ORR of first-line treatment was not significantly different between NSMM and secretory MM (89.45% vs. 84.7%, p = 0.196). The first-line PFS was 27.5 m and 23 m (p = 0.063), and the median OS was 81 m and 70 months (p = 0.401). However, for CR-achieved NSMM and CR-not-achieved NSMM patients, the median PFS was 37 m vs. 16 m (p = 0.021), while the median OS showed no difference (107 m vs. 87 m, p = 0.290). In multivariate analysis, the significant factors for PFS were age ≥ 65 and ISS-3. ISS-3 was the only independent prognostic factor of OS. The iFLC ≥ 50 mg/L group had a high ORR of 97.3%, and the median PFS and OS were 48 m and NR, respectively. Compared to the matched secretory MM, the iFLC ≥ 50 mg/L group also showed more CR and longer OS (NR vs. 70 m, p = 0.006) and PFS (48 m vs. 23 m, p = 0.003). Conclusions: Our results revealed that Chinese NSMM patients are younger and have a higher CR but not superior survival. The subgroup of NSMM patients with iFLC ≥ 50 mg/L had better outcomes than secretory MM. [ABSTRACT FROM AUTHOR]

Objective To explore the clinical characteristics of subgaleal hemorrhage (SGH) complicated with hemophilia in children, so as to provide help for early clinical identification of this disease and reduce the adverse outcomes of misdiagnosis of hemophilia. Methods The clinical data of 22 children with SGH diagnosed and treated in Children’s Hospital of Chongqing Medical University from January 2015 to January 2021 were retrospectively analyzed. They were divided into simple group (n=7) and combined group (n=15) according to whether they were complicated with hemophilia. The clinical characteristics of the two groups were compared. Results In the combined group, there were 3 of mild hemophilia, 2 of intermediate hemophilia and 2 of severe hemophilia. Head mass was found in 6 cases (6/7,85.7%) in the combined group after falling or falling injury, and 8 (8/15,53.3%) in the non combined group after traffic accident, falling or falling injury. The median age of the non combined group was 7.0 years (maximum 15.0 years, minimum 1.3 days), and 0.9 years (maximum 5.0 years, minimum 2.8 days) in the combined group, P=0.005. The median course of disease in the non combined group was 2.0 days (the longest was 15.0 days, the shortest was 0.2 days), and 7.0 days (the longest was 5.0 years, the shortest was 0.5 days) in the combined group, P=0.032. The median hemoglobin in the non combined group was 107 g/L (highest 145 g/L, lowest 82 g/L), and 69 g/L (highest 92 g/L, lowest 58 g/L) in the combined group, P=0.001. The median time of activated partial thromboplastin time (APTT) was 31.8 s (the longest was 34.0s and the shortest was 24.9s) in the non combined group, and 62.7s (the longest was 124s and the shortest was 42s) in the combined group,P= 0. 000. There were 8 cases (53. 3%) with skull fracture/intracranial hemorrhage after trauma in the non combined group and 3 cases (42. 9%) in the combined group.Conclusions Compared with simple SGH, the SGH complicated with hemophilia have younger age of onset, mainly infants, a longer course of disease, low hemoglobin and prolonged APTT. The types of SGH complicated with hemophilia are mainly mild and intermediate. Fall injury is the main inducement for SGH patients with hemophili. Early identification of this disease is helpful to early intervention and minimize the adverse outcomes caused by missed diagnosis of hemophilia. [ABSTRACT FROM AUTHOR]

Background: There are few studies on acute-on-chronic liver failure (ACLF) in patients with recompensated cirrhosis. This study was aimed to investigate the clinical features of ACLF patients with recompensated cirrhosis. Methods: A total of 461 ACLF patients were enrolled and divided into three groups: compensated, recompensated, and decompensated cirrhosis with ACLF. The baseline clinical data and 1-year survival rates were compared among the three groups. Results: Compared with the decompensated group, in the recompensated group, the levels of hemoglobin, albumin, and serum sodium were significantly higher and the white blood cell count, international normalized ratio, and incidence of respiratory failure were significantly lower; there were no evident differences in other organ failures. The proportion of patients with ACLF grade 3 and 1-year survival rates significantly differed between the two groups. Conversely, compared with the compensated group, in the recompensated group, the platelet and total bilirubin levels were significantly lower and the proportion of patients with ACLF grade 1 was significantly higher. However, other clinical indicators or 1-year survival rates did not significantly differ between the two groups. Conclusions: Compared with patients who developed ACLF with decompensated cirrhosis, those who developed ACLF with recompensated cirrhosis had a less severe condition, lower incidence of respiratory failure, and better 1-year prognosis. However, the baseline clinical features and prognosis were similar between ACLF patients with recompensated and compensated cirrhosis. Trial registration: Chinese clinical trials registry: ChiCTR1900021539. [ABSTRACT FROM AUTHOR]

Background: Merkel cell carcinoma (MCC) is an aggressive neuroendocrine tumor of the skin with high mortality. However, its clinical characteristics in Asian patients remain uncertain owing to its low incidence. Objective: To analyze the clinicopathological features of MCC and identify factors associated with its prognosis. Methods: The medical records of 62 patients with MCC were retrospectively reviewed. Data on clinical features, survival outcomes, prognostic factors, histopathology and immunohistochemical profile of the patients were collected and analyzed. Merkel cell polyomavirus status was evaluated using immunohistochemistry. Results: The incidence of MCC significantly increased over time. The mean duration of follow-up was 51.2 months, with an overall 5-year survival of 80.6%. More female patients with MCC were identified than male patients (1.3:1). Approximately half of the patients had stage I disease at the time of initial presentation. The primary tumor was frequently located in the lower extremities (40.3%), followed by the head and neck (32.3%), upper extremities (22.6%), and the trunk (4.8%). Male sex was associated with poorer overall survival (p = 0.003). Post-resection adjuvant radiotherapy significantly improved the overall survival (p = 0.023). Sentinel lymph node biopsy during surgery ameliorated the progression-free survival (p = 0.036) in patients with stage I or II cancer. Lymphovascular and perineural invasion were associated with a poor prognosis. Old age, immunohistochemical profiles, and Merkel cell polyomavirus-positivity were not associated with prognosis. Conclusion: Post-surgical adjuvant radiotherapy and sentinel lymph node biopsy significantly improve the course of MCC. [ABSTRACT FROM AUTHOR]

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Objective: To analyze the clinical and laboratory features of patients with acute tubulointerstitial nephritis (ATIN) and its differential diagnosis with acute tubular necrosis (ATN). Methods: From January 2009 to December 2018, patients with ATIN or ATN confirmed by renal biopsy in the Department of Nephrology, Ruijin Hospital ，Shanghai Jiao Tong Universtiy School of Medicine were included. The clinical manifestations and laboratory examination data were collected and analyzed comparatively. Results: During the period, there were 5 537 patients receiving renal biopsy,inclu-ding 135 ATIN cases [2.4% (135/5 537)] and 109 ATN [2.0%(109/5 537)].ATIN accounted for 21.4% (135/630) of the acute kidney disease (AKD) patients. The median age of ATIN patients was 53 years old and the female proportion was 57.0%. Main clinical manifestations of ATIN included fever, rash and arthralgia. Infection, and medicine use and toxic exposure were common inducements of ATIN. Compared with the ATN group, ATIN patients had higher female proportion (57.0% vs 33.9%) and lower BMI (22.9±3.6 vs 24.6±3.9, P

Abstract Background Hangman fracture is the second most common injury of the upper cervical spine, and neurological deficit with Hangman fracture is not rare. To our knowledge, few reports have statistically analyzed the predisposing factors for this injury. The objective of this study was to describe the clinical characteristics of neurological deficit associated with Hangman fracture and evaluate its risk factors. Methods In this retrospective study, 97 patients with Hangman fractures were included. Data on the age, sex, injury etiology, neurological deficits, and associated injuries were obtained and evaluated. The pretreatment parameters, anterior translation and angulation of C2/3, presence of the posterior vertebral wall (PVW) fractures of C2, and presence of spinal cord signal changes were measured. Twenty-three patients with neurological deficits after Hangman fractures comprised group A, and 74 patients without neurological deficit comprised group B. Student’s t-test or a nonparametric test and the chi-square test were used to evaluate the differences between groups. Binary logistic regression analysis was used to identify the risk factors for neurological deficit. Results Among the 23 patients in group A, 2 were American Spinal Injury Association (ASIA) scale B, 6 were C, and 15 were D, and spinal cord magnetic resonance imaging signal change was observed at the level of C2–C3 disc, C2, or both. Patients with the combination of PVW fractures and ≥ 50% significant translation or angulation of C2/3 were significantly more likely to have a neurological deficit. Both factors remained significant in binary logistic regression analysis. Conclusions Neurological deficit after Hangman fractures always presents clinically as a partial neurological impairment. The combination of PVW fractures with ≥ 1.8 mm of translation or ≥ 5.5° of angulation of C2/3 was the predisposing factor for neurological deficit with Hangman fractures.

BackgroundPaediatric symptomatic SARS-CoV-2 infections associate with two presentations, acute COVID-19 and paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS). Phenotypic comparisons, and reports on predictive markers for disease courses are sparse and preliminary.MethodsA chart review of COVID-19 and PIMS-TS patients (≤19 years) admitted to Alder Hey Children's NHS Foundation Trust, a tertiary centre in the North-West of England, was performed (02/2020–09/2022).ResultsA total of 161 symptomatic COVID-19 and 50 PIMS-TS patients were included. Peaks in admissions of patients with PIMS-TS occurred approximately 4 weeks after those for acute COVID-19. The incidence of in-patients with PIMS-TS reduced over time, and there were no admissions after February 2022. When compared to acute COVID-19, PIMS-TS patients were older (median: 10.3 years vs. 2.03 years; p

Background: There has been an increase in the number of women suffering from breast cancer in recent years, and discovering new therapeutic targets and efficacy predictive markers is critical for comprehensive breast cancer treatment. Methods: First, we used bioinformatics methods to analyze TARS1(encoding cytoplasmicthreonyl-tRNA synthetase) expression, prognosis, and clinicopathological characteristics in TCGA database breast cancers, and then we collected breast cancer specimens from our center for validation. TARS1 was then subjected to GSEA (Gene Set Enrichment Analysis) enrichment analysis, GO/KEGG pathway enrichment analysis, and breast cancer immune infiltration characterization. As a last step, we examined TARS1's effects on breast cancer cell behavior with cellular assays. Results: The overexpression of TARS1 has been found in several malignant tumors, including breast cancer, and has been linked to poor prognoses. Breast cancers with large primary tumors and negative hormone receptors are more likely to overexpress TARS1. Overexpression of TARS1 promotes the infiltration of T cells, such as Tregs and Th2s, while inhibiting the infiltration of NK cells and CD8+ T cells, which are anticancer cells in breast cancer. TARS1 was also found to be co-expressed with the majority of immune checkpointrelated genes, and breast cancer with TARS1 overexpression responded better to immunotherapy. By knocking down TARS1, breast cancer cells were prevented from proliferating and invading, as well as exhibiting other malignant biological properties. Conclusion: According to our study, TARS1 may be an oncogene in breast cancer and may be a biomarker of efficacy or a target of immunotherapy in breast cancer. [ABSTRACT FROM AUTHOR]

Tryptophan (Trp) metabolism primarily involves the kynurenine, 5-hydroxytryptamine, and indole pathways. A variety of bioactive compounds produced via Trp metabolism can regulate various physiological functions, including inflammation, metabolism, immune responses, and neurological function. Emerging evidence supports an intimate relationship between Trp metabolism disorder and diseases. The levels or ratios of Trp metabolites are significantly associated with many clinical features. Additionally, studies have shown that disease progression can be controlled by modulating Trp metabolism. Indoleamine-2,3-dioxygenase, Trp-2,3-dioxygenase, kynurenine-3-monooxygenase, and Trp hydroxylase are the rate-limiting enzymes that are critical for Trp metabolism. These key regulatory enzymes can be targeted for treating several diseases, including tumors. These findings provide novel insights into the treatment of diseases. In this review, we have summarized the recent research progress on the role of Trp metabolites in health and disease along with their clinical applications. Xue et al. concentrate on the roles and underlying mechanisms of Trp metabolism in health and disease. In addition, the clinical applications of Trp metabolism inhibitors are discussed. Xue et al. provide ideas for targeting Trp metabolism as a potentially advantageous therapeutic strategy for treating diseases. [ABSTRACT FROM AUTHOR]