SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population

BackgroundSolute carrier family 2 member 3 (SLC2A3), is a member of a superfamily of transport protein genes. SLC2A3 played an important role in embryonic development. Previous research reported SLC2A3 duplication was reportedly associated with congenital syndromic heart defects. However, it is not clear whether the gene is associated with non‐syndromic congenital heart disease. Our study aimed to elucidate the relationship between its variation and congenital heart disease.MethodsGenomic DNA extracted from the peripheral blood leukocytes of two families with CHD were sequenced with whole‐exome sequencing to identify variations, used Sanger sequencing to investigate SLC2A3 variants in 494 Chinese patients with CHD and 576 healthy unrelated individuals.ResultsIn members from the two families, three with CHD had the SLC2A3 (rs3931701) C > T variant. Of the 494 patients with CHD, 394 had gene variants (86 had the TT type and 308 had the CT type). Of the 576 healthy controls, 272 participants had gene variants (36 had the TT type and 236 had the CT type). The TT type [p < 0.0001, odds ratio (OR) =7.262, 95% confidence interval (CI) =4.631–11.388] and CT type (p < 0.0001, OR =3.967, 95% CI =2.991–5.263) of SLC2A3 (rs3931701) significantly increased the risk of sporadic ASD in a Chinese Yunnan population.ConclusionsSingle nucleotide variations of SLC2A3, particularly, the SLC2A3 (rs3931701) C > T variant increased the risk of CHD among the studied population.     

Enhanced tumor homing of pathogen-mimicking liposomes driven by R848 stimulation: A new platform for synergistic oncology therapy

Although multifarious tumor-targeting modifications of nanoparticulate systems have been attempted in joint efforts by our predecessors, it remains challenging for nanomedicine to traverse physiological barriers involving blood vessels, tissues, and cell barriers to thereafter demonstrate excellent antitumor effects. To further overcome these inherent obstacles, we designed and prepared mycoplasma membrane (MM)-fused liposomes (LPs) with the goal of employing circulating neutrophils with the advantage of inflammatory cytokine-guided autonomous tumor localization to transport nanoparticles. We also utilized in vivo neutrophil activation induced by the liposomal form of the immune activator resiquimod (LPs-R848). Fused LPs preparations retained mycoplasma pathogen characteristics and achieved rapid recognition and endocytosis by activated neutrophils stimulated by LPs-R848. The enhanced neutrophil infiltration in homing of the inflammatory tumor microenvironment allowed more nanoparticles to be delivered into solid tumors. Facilitated by the formation of neutrophil extracellular traps (NETs), podophyllotoxin (POD)-loaded MM-fused LPs (MM-LPs-POD) were concomitantly released from neutrophils and subsequently engulfed by tumor cells during inflammation. MM-LPs-POD displayed superior suppression efficacy of tumor growth and lung metastasis in a 4T1 breast tumor model. Overall, such a strategy of pathogen-mimicking nanoparticles hijacking neutrophils in situ combined with enhanced neutrophil infiltration indeed elevates the potential of chemotherapeutics for tumor targeting therapy.     

青少年椎间盘钙化自发性恢复1例报告并文献复习

椎间盘钙化是成人常见脊柱疾病,而在青少年中较为罕见[1-2].青少年椎间盘钙化是一种自限性疾病,大多数患者主要表现为颈部、背部和上肢疼痛及斜颈等,也有一些无症状患者在常规体检中被发现,通常预后良好.目前,对于症状性青少年椎间盘钙化是采用非手术治疗还是积极手术治疗仍有争议.有研究[3-5]显示,青少年椎间盘钙化经非手术治疗大多预后良好,少数患者出现复发或进展.因此,有必要通过长期随访研究来明确青少年椎间盘钙化是否需要手术治疗.本研究通过复习相关文献,并结合本院收治的1例青少年椎间盘钙化自发性恢复患者的诊疗过程,探讨青少年椎间盘钙化的可能病因、诊疗方案及其引发的严重神经系统症状的长期预后.     

新生儿缺氧缺血性脑病43例临床与预后分析

分析新生儿缺氧缺血性脑病（ＨＩＥ）４３例。有宫内窘迫史者占５８１％,出生重度窒息占８１４％。ＨＩＥ轻度１０例,中度２６例,重度７例。合并心肌损害达４１７％。治愈好转率为８１３％。病死率７０％。随访２４例,轻度ＨＩＥ预后好,中度有明显后遗症者为６７％,重度预后不良。认为加强围生期保健,提高产科质量,进行新法复苏及复苏后处理是降低ＨＩＥ发病率的关键。诊治中应重视心肌损害。使用胞二磷胆碱等脑细胞代谢激活剂辅治ＨＩＥ效果肯定。对于预后,强调早期治疗,早期评分、早期随访、早期干预是改善重度ＨＩＥ预后的几个重要环节。     

经前路行颈椎后纵韧带骨化切除33例

对Ｃ_４水平以下节段性颈椎后纵韧带骨化（ＯＰＬＬ）３３例行前路骨化韧带切除术。２９例随访１～１０ａ，按ＪＯＡ标准评定疗效。结果：优（术后改善率８０％以上）１３例；良（５０％～７９％）１０例；改进（５％～４９％）３例；无变化（５％以下）２例；加重１例，有效率８９．６％。提示：Ｃ_４以下节段性ＯＰＬＬ适合前路开槽切除；Ｃ_４以上的节段性ＯＰＬＬ或连续型ＯＰＬＬ适合后路椎板成形椎管扩大术。充分暴露骨化灶的范围，才能将其完整切除。     

Determinants of Short-Term Weight Gain Following Surgical Treatment for Craniopharyngioma in Adults

ObjectiveCraniopharyngiomas (CPs) are associated with hypothalamic damage that causes hypothalamic obesity, however, the mechanisms underlying CP-related postoperative weight gain remain debatable. This study aimed to elucidate whether the major determinant of postoperative weight gain in patients with CP is hypothalamic injury or steroid replacement therapy. MethodsWe included 48 adult patients with CP (age ≥18 years) who underwent transsphenoidal surgery between 2010 and 2018 in a single tertiary center, and whose body weight was measured pre- and postoperatively (<120 days after the surgery). We recruited 144 age- and body mass index-matched patients with non-functioning pituitary adenoma (NFPA) as controls. ResultsPatients with CP experienced greater postoperative weight gain than patients with NFPA (3.0±5.1 vs. 0.1±3.6 kg, p<0.001). The prevalence of postoperative steroid use was significantly higher in patients with CP than in those with NFPA (89.6% vs. 34.0%, p<0.001). Steroid replacement therapy and CP were associated with postoperative weight gain after adjusting for covariates in overall patients (p=0.032 and 0.007, respectively). In subgroup analysis with postoperative steroid users, weight gain was significantly greater in patients with CP (n=43, 0.96±0.25 kg/month) than in patients with NFPA (n=49, 0.26±0.23 kg/month) even after adjusting for the daily steroid dose (p=0.048). ConclusionPatients with CP experience greater postoperative weight gain than those with NFPA. Hypothalamic damage itself as well as steroid replacement may contribute to the postoperative weight gain in patients with CP.     

IGF-I对子宫切除所致大鼠卵巢颗粒细胞凋亡的抑制作用

目的 探讨IGF-I对子宫切除所致大鼠卵巢颗粒细胞凋亡的抑制作用。方法 采用子宫切除术方法建立子宫切除Sprague-Dawley大鼠模型(保留卵巢)。向体外培养的子宫切除大鼠卵巢颗粒细胞施加60ng刖浓度外源性IGF-I。应用流式细胞仪检测细胞凋亡率。应用荧光显微镜观察细胞凋亡形态学特征。结果 模型组(子宫切除)较正常组(子宫未切除)凋亡增加;IGF-I组(子宫切除 IGF-I)能减缓子宫切除引起的凋亡升高。结论 外源性IGF-I抑制子宫切除大鼠卵巢颗粒细胞凋亡。     

Lipomatous meningioma: Diagnostic pitfalls and pathological updates

We present a case of histologically confirmed lipomatous meningioma, the first to our knowledge reported in Hong Kong. A 75‐year‐old woman presented to us with on and off dizziness for 1 month. Computed tomography (CT) of the brain showed an extra‐axial mass lesion containing fat and solid enhancing foci at her right frontal region. The definitive diagnosis could be made preoperatively. Postoperative histological examination of the tumour revealed the diagnosis of lipomatous meningioma. We have reviewed the literature and discussed the diagnostic clues, clinical presentation and pathology of this rare tumour.     

Combining a digital design-mediated surgery-first approach and clear aligners to treat a skeletal Class III defect for aesthetic purposes: a case report

This case report introduces digital surgery-first approach orthognathic surgery assisted by three-dimensional virtual planning and combined with invisible orthodontic treatment for a 21-year-old female patient with a skeletal Class III high-angle gummy smile malocclusion. We explored the clinical significance of the widespread application of digital technology for rapid development of the orthodontic/orthognathic field. The regional acceleratory phenomenon and clear aligners were used to achieve fast and aesthetic tooth movement after surgery. The treatment lasted only 8 months, and the patient was satisfied with the aesthetic results. The results remained stable after 1 year of follow-up. This case report highlights the advantages of combining a digital design and a surgery-first approach to produce accurate, rapid, safe, stable, and fulfilling cosmetic results. The combination of the surgery-first approach and clear aligners can facilitate patient-oriented surgical orthodontic treatment.