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目的总结原因不明矮身材儿童的临床特征并探讨其致病基因，为临床精准诊疗提供依据。方法收集我院儿科内分泌专科2018年1月至2022年8月就诊的未能明确诊断的矮身材儿童临床表现、实验室检查及全外显子组测序（WES）结果进行回顾性分析，根据不同作用机制对致病基因进行归纳总结。结果纳入患儿48例（男性30例，女性18例），年龄（7.73±3.97）岁，身高标准差分值为-3.63±1.67；临床表现：特殊面容33例（68.8%），体型或骨骼系统异常31例（64.6%），围产期异常26例（54.2%，其中61.5%为小于胎龄儿），内分泌系统异常24例（50.0%，其中87.5%生长激素（GH）峰值低于正常），矮身材家族史21例（43.8%）；实验室检查：GH激发试验峰值（9.72±7.25）ng/mL，IGF-1 标准差分值为-0.82±1.42，骨龄与年龄差值（-0.93±1.39）岁；WES共发现相关基因变异者25例，其中14例（56.0%）为致病变异，6例（24.0%）为可能致病变异，5例（20.0%）为意义未明变异；评价为致病及可能致病变异的基因共14个，其中影响细胞内信号通路10个（PTPN11、RAF1、RIT1、ARID1B、ANKRD11、CSNK2A1、SRCAP、CUL7、SMAD4和FAM111A），影响细胞外基质（ECM）4个（ACAN、FBN1、COL10A1和COMP）。结论临床上表现为严重矮身材伴特殊面容、非匀称体型、骨骼系统异常、小于胎龄儿、GH峰值低于正常和矮身材家族史等特征的儿童，其病因需考虑罕见单基因疾病的可能，WES是提高单基因性矮小症诊断效能的重要手段。本组患儿致病基因中，主要致病机制是影响细胞内信号通路和ECM组分或功能，进一步研究有助于发现和研究新的矮小症致病变异和基因功能。

【目的】分析中山大学孙逸仙纪念医院的重型β-地中海贫血（β-TM）患者青春发育特点及影响因素。【方法】通过对42 例年龄≥10 岁β-TM 患者进行随访资料回顾、问卷调查、体格检查及实验室检查等评估青春发育状态，分析影响β-TM 患者青春发育的可能因素。【结果】24 例（57.14%）β-TM 患者出现青春发育异常，女性以乳房不发育、原发性闭经及男性以睾丸不增大、阴茎短小为主要表现。其中β0β0 基因型、脾切除后、维生素D 缺乏或者伴有糖尿病的β-TM 患者的青春发育异常发生率均显著增高，差异有统计学意义（χ2 = 3.966，5.196，5.567，4.714，P = 0.046， 0.023，0.018，0.030）。经Logistic 回归分析得出心MRT2* < 20 ms 是β-TM 患者青春发育异常的独立危险因素。【结论】β-TM 患者青春发育异常较常见，起始祛铁年龄大、严重心铁过载、β0β0 基因型、脾切除后以及合并其他内分泌疾病的β-TM 患者青春发育异常发生率更高，低促性腺激素性腺功能减退症可能是青春发育异常的主要发病机制。

【目的】总结5种亚型儿童RAS通路病的临床特点及基因变异类型，分析Ⅰ型神经纤维腺瘤病（NF1）、努南综合征（NS）、多色素痣型努南综合征（NSML）、科斯特洛综合征（CS）和心-面-皮肤综合征（CFC）的临床共性和特性，提高临床医生对RAS通路病的认识和诊治水平。【方法】回顾性分析我院2015年10月至2018年6月期间确诊的11例RAS通路病患者的临床资料及基因突变类型。【结果】11例RAS通路病患儿的发病年龄为6月~12岁，常见临床表现包括：身材矮小、特殊面容、先天性心脏病、皮肤牛奶咖啡斑、运动发育落后、血小板减少、癫痫、肌张力异常、隐睾等，共检测出5种基因突变类型，包括NF1基因、PTPN11基因、RAF1基因、BRAF基因和HRAS基因。【结论】RAS通路病是丝裂原活化蛋白激酶通路异常引起的一组遗传性生长发育异常综合征。因此，RAS通路病常伴有特殊面容、运动发育落后、心血管、皮肤、骨骼、神经等多系统异常以及肿瘤易感性等共同表现。但因基因突变位点的差异，各类型间亦存在相对特异的表现。另外，因肿瘤易感性是RAS通路病的共性之一，肿瘤监测是随访过程的重要项目。

This study aims to explore the effects of different types of trace element raw materials and their addition levels on the storage quality of 5‰ premixed feed for piglets. There are a total of 5 groups in the experiment, namely group 1: inorganic trace element group; groups 2: trace element coating group; groups 3: glycine trace element group (trace element addition level is 70% of unorganized); groups 4 and groups 5: complex amino acid chelated trace element group (trace element addition level is 70% and 50% of unorganized), with 3 replicates for each group. The premix is stored in a normal warehouse for 90 days, and the loss rates of several vitamins and enzyme activity are measured and calculated on the 1st, 21st, 42nd, 63rd and 90th days. The results showed that from day 1 to 63, the activity of yeast xylanase and β-glucanase has increased to varying degrees. At 90 days, the activity of yeast xylanase in each group began to decrease, with group 5 having the highest loss rate. Compared with groups 1, 2, and 3, the loss rate of warm amylase activity and acidic protease activity in groups 4 and 5 were significantly reduced (P<0.05). The loss rate of vitamins in different groups increases with the prolongation of storage time. At 90 days, compared with other groups, the loss rate of vitamin B2 in groups 4 and 5 were significantly reduced (P<0.05). At day 42, the loss rate of vitamin B6 in group 5 was significantly lower than that in other groups (P<0.01). Throughout the entire experiment, the phytase activity and vitamin E loss rate in group 1 were significantly higher than those in other groups (P<0.05), with group 5 having the lowest phytase activity and vitamin E loss rate. In summary, replacing inorganic trace elements with organic trace elements has less impact on enzyme preparations and vitamins in the premix, and low concentrations of organic trace elements are more conducive to the preservation of the premix. [ABSTRACT FROM AUTHOR]

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This paper summarized the integrated nursing of traditional Chinese and western medicine for a patient undergoing percutaneous coronary intervention (PCI) supported by intra-aortic balloon pump(IABP) for cardiogenic shock acute caused by anterior myocardial infarction. Key issues of nursing included symptomatic nursing, acupoint application, auricular point pressing therapy, oral care with Chinese herbal medicine were carried during the treatment period. The integrated nursing measures were potentially effective to improve the patient’s satisfaction and reduce the risk of complications. (本文总结1例急性前壁心肌梗死致心源性休克患者行急诊经皮穿刺冠状动脉内支架植入术(PCI)及行主动脉内球囊反搏(IABP)后的中西医结合护理方案, 包括对症护理、穴位贴敷、耳穴压豆、中药口腔护理等。中西医结合护理方案能有效提升患者的舒适度, 减少并发症的发生风险。)

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目的 观察老年牙周病患者利多卡因局麻拔牙术中不同剂量瑞马唑仑镇静效果。方法 将120例行拔 牙术的老年牙周病患者随机分为R1组、R2组、M组, R1组入门诊手术室后拔牙术前给予瑞马唑仑0. 05 mg/kg, 待改 良警觉/镇静 (MOAA/S)评分为4时, 给予2%利多卡因进行口腔局部神经阻滞或局部浸润麻醉；R2组给予瑞马唑仑 0. 1 mg/kg, 其余步骤同 R1组；M 组给予咪达唑仑 0. 05 mg/kg, 其余步骤同 R1组；比较各组一次镇静成功率。根据 MOAA/S评分, 计算三组患者镇静起效时间和苏醒时间；记录拔牙操作结束到患者达到离院标准的离院时间。分别 记录患者入门诊手术室时 (T0)、给药后镇静起效时 (T1, 即MOAA/S评分=4)、局麻注射完毕时 (T2)和拔牙操作结束 时 (T3)的脑电双频指数 (BIS)、平均动脉压 (MAP)和心率 (HR), 并记录镇静过程中的不良反应, 计算不良反应发生 率。结果 三组老年牙周病患者均镇静成功, 但 R2组一次镇静成功率高于 M 组和 R1组 (P<0. 05)。与 M 组相比, R1组和R2组镇静起效时间、苏醒时间和离院时间均缩短；与R1组比较, R2组镇静起效时间短, 苏醒时间长 (P均< 0. 05)。 与T0时比较, M组、R1组和R2组T1、T2、T3时BIS值、MAP值下降 (P均<0. 05), 但HR下降差异无统计学意 义 (P>0. 05)。与M组相同时间点比较, R2组T1和T2时的BIS值、MAP值下降 (P<0. 05)。与R1组相同时间点比较, R2组T1和T2时的BIS值下降 (P<0. 05)。三组患者术中呼吸抑制、心动过缓和低血压发生率比较, P均>0. 05, 但R1 组和 R2组术后头晕、嗜睡的发生率低于 M组 (P均<0. 05)。结论 0. 05、0. 1 mg/kg的瑞马唑仑在老年牙周病患者 利多卡因局麻拔牙术中有良好的镇静效果, 但使用 0. 05 mg/kg的瑞马唑仑需追加给药次数；瑞马唑仑镇静过程中 患者血压、心率平稳, 不良反应较咪达唑仑少。 [ABSTRACT FROM AUTHOR]

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OBJECTIVE: To explore the efficacy of carbon dioxide fractional laser combined with compound betamethasone in the treatment of vitiligo and its effects on Th17-related cytokines. METHODS: Totally 90 patients with vitiligo admitted into the hospital from Jan. 2018 to Jan. 2020 were extracted to be divided into the control group Ⅰ (carbon dioxide fractional laser), control group Ⅱ ( compound betamethasone) and combination therapy group (carbon dioxide fractional laser combined with compound betamethasone) via the random number table method, with 30 cases in each group. The efficacy and Th17-related cytokines were compared. RESULTS: There was no statistically significant difference in adverse drug reactions among the combination therapy group, control group Ⅰ and control group Ⅱ [13. 33%(4 / 30),10. 00%(3 / 30) and 6. 67%(2 / 30),P>0. 05]. Difference of recovery time of white spots on face-neck, limbs and hands-feet in combination therapy group, control group Ⅰ and control group Ⅱ was statistically significant (P<0. 05). The recovery time of white spots on face-neck, limbs and hands-feet in combination therapy group was significantly shorter than that in control group Ⅰ and control group Ⅱ, with statistically significant difference (P< 0. 05). After treatment, the levels of interleukin( IL)-17, IL-22 and IL-23 in combination therapy group, control group Ⅰ and control group Ⅱ had statistical significance (P<0. 05), and the levels of IL-17, IL-22 and IL-23 in combination therapy group were significantly lower than those in control group Ⅰ and control group Ⅱ, with statistically significant difference (P<0. 05). The effective rate of combination therapy group, control group Ⅰ and control group Ⅱ was respectively 90. 00% (27 / 30), 63. 33% (19 / 30) and 56. 67% (17 / 30), the effective rate of combination therapy group was significantly higher than that of control group Ⅰ and control group Ⅱ, with statistically significant difference ( P < 0. 05 ). CONCLUSIONS: The efficacy of carbon dioxide fractional laser combined with compound betamethasone in the treatment of vitiligo is significant, which can reduce the levels of serum Th17 cell related cytokines such as IL-17, IL-22 and IL-23. [ABSTRACT FROM AUTHOR]

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Nanocellulose is widely used as water treatment materials because of their high surface area and aspect ratio, environmental biodegradability and renewability. Chlorella grows fast and its cell wall is rich in cellulose without lignin. High quality cellulose can be obtained by simple purification. Tn the present work, cellulose nanofibers (CNF) were prepared from chlorella waste by homogenization, with average diameter and length of 4.1 土2.3 nm and 375±35.3 nm. The physicochemical properties of the prepared CNFS were determined by various techniques, and its adsorption performance was evaluated using methylene blue tri hydrate (MB) and congo red (CR) as the model dyes. Results reported in this study indicate that the adsorption of MB and CR on the CNFS follow pseudo-first-order kinetics and the pseudo-second-ord er. Besides, the effects of pH and dye concentrate on adsorption were also investigated. Further analysis reveals that the process of MB and CR adsorption follow the Langmuir isotherm model. The maximum capacity of cationic MB dye adsorption on the CNF is 161. 25 mg/g, and anionic CR dye adsorption is 181.36 mg/g. The pH has a significant effect on the adsorption capacity of CNFS, which have maximum adsorption capacity the maximum ad sorption capacity. But for CR, the lower the pH, the stronger the adsorption capacity is, in the pH range of 5 to 1(). [ABSTRACT FROM AUTHOR]

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The effects of forest management methods on the understory litter and soil water conservation capacity of Larix principisrupprechtii forests of different ages were studied to provide a theoretical basis for the formulation of Larix principis-rupprechtii plantation management and soil and water conservation measures in the study area. In August 2021, young forests, near-mature forests and mature forests of Larix principis-rupprechtii under near-natural management, conventional management and non-management measures were selected as the research objects in Wangyedian Forest Farm, Chifeng City, the method of field survey and sampling combined with indoor experimental analysis was used to compare and analyze the water holding capacity of understory litter and soil in young Larix principis-rupprechtii forest, near-mature forest and mature forest under different management methods, and the entropy weight method was used to comprehensively evaluate the litter and soil water conservation capacity of Larix principis-rupprechtii forest. The results showed that: the total thickness of litter in 9 sample plots ranged from 2. 37 cm to 5. 83 cm, and the total volume of litter ranged from 11. 27 t / hm 2 to 37. 07 t / hm 2 . The maximum and effective water holding capacity of litter under different ages of Larix principis-rupprechtii forests showed the trend of mature forest>near-mature forest>young forest. The maximum and effective water holding capacity of litter under Larix principis-rupprechtii forest under different management modes showed the order of non-management>conventional management> near natural management. Soil total porosity, capillary porosity, saturated water capacity and capillary water capacity under different ages of Larix principis-rupprechtii stands had the regularities of young forest>mature forest>near-mature forest. Soil porosity and water holding capacity of Larix principis-rupprechtii forest under different management patterns showed the change rule of near-natural management>conventional management>non-management. Under non-management measures, the understory water conservation capacity of mature forest stage of Larix principis-rupprechtii forest was the highest; under conventional management measures, the understory water conservation capacity of young forest stage was second, and the understory water conservation capacity of near-mature forest stage under conventional management measures was the lowest. [ABSTRACT FROM AUTHOR]

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