简介：AbstractOmicron (B.1.1.529), the fifth variant of concern (VOC) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), was firstly identified in November 2021 in South Africa. Omicron contains far more genome mutations than any other VOCs ever found, raising significant concerns about its increased transmissibility and immune evasion. Here, we report the importation of the Omicron variant into Beijing, China, in December 2021. Full-length genome sequences of five imported strains were obtained, with their genetic features characterized. Each strain contained 57 to 61 nucleotide substitutions, 39 deletions, and 9 insertions in the genome. Thirty to thirty-two amino acid changes were found in the spike proteins of the five strains. The phylogenetic tree constructed by the maximum likelihood method showed that all five imported genomes belonged to Omicron (BA.1) (alias of B.1.1.529.1), which is leading to the current surge of coronavirus disease 2019 (COVID-19) cases worldwide. The globally increased COVID-19 cases driven by the Omicron variant pose a significant challenge to disease prevention and control in China. Continuous viral genetic surveillance and increased testing among international travellers are required to contain this highly contagious variant.

简介：AbstractAt present, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spread worldwide, which has emerged multiple variants and brought a threat to global public health. To analyze the genomic characteristics and variations of SARS-CoV-2 imported into Beijing, we collected the respiratory tract specimens of 112 cases of coronavirus disease 2019 (COVID-19) from January to September 2021 in Beijing, China, including 40 local cases and 72 imported cases. The whole-genome sequences of the viruses were sequenced by the next-generation sequencing method. Variant markers and phylogenic features of SARS-CoV-2 were analyzed. Our results showed that in all 112 sequences, the mutations were concentrated in spike protein. D614G was found in all sequences, and mutations including L452R, T478K, P681R/H, and D950N in some cases. Furthermore, 112 sequences belonged to 23 lineages by phylogenetic analysis. B.1.1.7 (Alpha) and B.1.617.2 (Delta) lineages were dominant. Our study drew a variation image of SARS-CoV-2 and could help evaluate the potential risk of COVID-19 for pandemic preparedness and response.

简介：摘要ObjectiveTo investigate a 5-generation Chinese Han family with PRKAG2 cardiac syndrome resulting from mutations in the PRKAG2 gene encoding the AMP-activated protein kinase (AMPK) gamma 2 subunit and the treatment of myocardial hypertrophy in patients with PRKAG2 cardiac syndrome.MethodIn this study, a 5-generation Chinese Han family (n = 40) with complete atrioventricular block and asymmetric interventricular septal hypertrophy was taken as the research object, and the DNA were obtained from 30 of them (6 patients and 24 normal persons). Objective gene capture combined with high-throughput sequencing technique was used to detect the genes of family members. After the gene diagnosis was confirmed, the cardiac data of patients taking beta-blockers in this family were analyzed retrospectively with the average annual increase in thickness of interventricular septum (expressed in mm/year) as an index.ResultsA total of 6 family members were associated with PRKAG2 (c.905G>A; pR302Q) heterozygous variation. The phenotype of pedigree patients is characterized by complete atrioventricular block and asymmetric interventricular septal hypertrophy, which has high homogeneity. No syncope occurs after implantation of permanent pacemaker, but atrial flutter and atrial fibrillation occur. The 5 patients with PRKAG2 cardiac syndrome in the family took beta-blockers for a long time, and the progress of cardiac hypertrophy was significantly delayed.ConclusionsOur results suggest that the possibility of PRKAG2 mutations should be considered in patients with complete atrioventricular block and asymmetric interventricular septal hypertrophy, and that prompt implantation of pacemakers and long-term use of beta blockers may improve the prognosis of PRKAG2 cardiac syndrome patients.

简介：摘要长期以来，人们一直认为2型糖尿病（T2DM）是一种终身性疾病。近年的临床实践显示，一些T2DM患者在采取某些干预措施后可停用降糖药而血糖仍处于正常或接近正常水平，目前多数学者用“缓解”来描述T2DM患者这种代谢持续改善至接近正常的状态。该文对T2DM缓解的概念和判断标准、实现T2DM缓解的策略、T2DM缓解的影响和预测因素进行介绍，并阐述诱导T2DM缓解的可能机制。T2DM缓解具有重要的临床意义，不仅使患者在一段时间内免于药物治疗，而且可降低患者并发症的发生风险，针对缓解机制的研究还有望衍生出新的干预靶点，但该领域仍存在若干需要解决的问题。临床上对已经缓解的T2DM患者仍不能放松管理，需要定期复查，如患者血糖超过控制标准应按照指南及时启动相应的治疗。

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简介：摘要非酒精性脂肪性肝病（NAFLD）和2型糖尿病（T2DM）十分常见，两者常常互为因果。大量流行病学研究结果显示NAFLD显著增加T2DM发病风险，其机制尚不十分清楚。肝脏是机体糖脂代谢的重要调节器官，在维持机体血糖和血脂稳态上发挥关键作用。该文系统阐述了NAFLD的发生发展规律和机制，尤其介绍了肝脏糖代谢异常与高血糖之间的关系。NAFLD肝脏通过产生大量的17羟孕酮，增加去泛素化酶USP14基因表达促进糖异生过程，增加肝糖输出，升高血糖。通过改善脂肪肝可有效减少糖尿病的发病风险，对于糖尿病的防治具有重要意义。

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简介：摘要本文报道2例胎儿Pierre Robin序列征（PRS），由胎儿MRI诊断并在引产或生后得以证实。PRS在胎儿MRI上表现为小下颌、舌根后坠、气道变窄及腭裂。MRI诊断PRS有较高的敏感性，可诊断胎儿PRS伴随的结构畸形，给予围生期咨询提供一定指导建议。

简介：摘要本文报道椎管内孤立性纤维性肿瘤2例。该2例患者分别因双下肢无力伴小便失禁2个月余和右下肢麻木半年就诊，MRI上表现为与椎管平行的椭圆形肿块，边界清晰，T1WI呈等信号，T2WI呈等或稍高信号；增强扫描呈明显均匀或不均匀强化。最终术后病理诊断为椎管内孤立性纤维性肿瘤。

简介：摘要椎动脉外伤后出血量大且凶猛，容易被误诊为颈动脉损伤，临床中颈部外伤单纯伤及椎动脉少见，我们诊治2例椎动脉破裂出血患者。患者1，女性，41岁，颈部外伤4 h，探查后行左侧椎动脉吻合+左侧椎前静脉修补+左侧颈内、颈外静脉结扎术，术后10 d患者出现头晕，颅脑MR检查考虑左侧小脑半球脑梗死，椎动脉闭塞、狭窄，应用抗凝药物治疗4个月后头晕症状消失。患者2，女性，28岁，右侧颈部肿胀10 h，数字减影血管造影（DSA）检查示椎动脉起始段假性动脉瘤，介入手术止血困难，暂行颈部填塞后予抗感染治疗，术后4 d行颈部探查+气管切开术，术后18 d再行介入手术，患者出院前气管套管拔除，右上肢肌力0级。

简介：摘要患儿 男，11月龄，以频繁成簇抽搐发作起病，予地西泮、苯巴比妥及丙戊酸钠联合治疗无效，每天抽搐发作数十次，起病第4天因癫痫持续状态入住重症监护病房治疗，并出现嗜睡、意识模糊、不能认人、不自主动作、偶兴奋尖叫、夜间睡眠时间减少，脑电图背景活动慢化，监测到频繁后头部起源的临床发作及电发作，脑脊液抗AMPA2受体IgG抗体阳性，诊断抗AMPA2受体脑炎。予人免疫球蛋白及激素冲击免疫治疗，加用拉考沙胺并减停丙戊酸后抽搐缓解，意识转清。临床上以频繁局灶抽搐发作伴有意识水平下降为主要表现的婴儿，应注意鉴别抗AMPA2受体脑炎，尽早启用免疫治疗改善预后至关重要。

简介：摘要孤立性纤维性肿瘤（SFT）作为一种梭形细胞间叶源性肿瘤，好发于胸膜，也可发生于身体其他部位，其中眼内SFT十分罕见。本文报道2例脉络膜SFT患者，经临床、影像学、组织病理学及免疫组织化学等检查确诊。眼球摘除术后目前均未见复发或转移。

简介：摘要2岁6月龄和10月龄患儿均以排稀水便起病，临床表现为顽固性腹泻、大量水样便、重度营养不良、低蛋白血症，病理示小肠黏膜绒毛萎缩，固有膜淋巴细胞浸润，伴隐窝凋亡，例1血清抗杯状细胞抗体阳性，2例患儿诊断为自身免疫性肠病。该病临床罕见，以营养支持及免疫抑制治疗为主。

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简介：摘要新型冠状病毒肺炎疫情在世界范围肆虐，给全球公共卫生事业带来了极大冲击。本文从严重急性呼吸综合征冠状病毒2(SARS-CoV-2)引起的固有免疫应答、体液免疫应答、细胞免疫应答、免疫逃避与交叉免疫五方面对现有研究进行综述，希望通过阐述免疫机制中的作用靶点，为SARS-CoV-2的治疗与预防贡献新思路。

简介：摘要CD99L2(CD99 antigen-like 2)基因位于染色体Xq28，编码高度保守、广泛表达的糖基化跨膜蛋白。自2003年首次报道以来，CD99L2蛋白被认为是一种重要的黏附分子，在炎症反应、白细胞渗出、淋巴瘤中起重要作用。但是，近年越来越多研究发现该基因与孤独症谱系障碍、脑性瘫痪、癫痫等神经系统疾病密切相关，但具体机制仍不清楚，该基因功能至今未明确。该文就CD99L2基因的研究进展进行综述。

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简介：摘要本文提出了一套简明实用的BRCA1/2变异解读流程，为新接触该领域的从业人员提供易于学习和掌握的入门级实践指导。