Cutis laxa,fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

Autosomal recessive cutis laxa (ARCL) is a connective tissue disorder characterized by wrinkled, inelastic skin, frequently associated with a neurologic involvement and multisystem disease. Next generation sequencing was performed in genetically unsolved patients with progeroid features, neurological and eye involvement to assess the underlying etiology. We describe an 6 month old child, diagnosed with a novel, homozygous nonsense mutation c.2339T>C in exon 18 of the ALDH18A1 gene, and reviewed all reported P5CS patients.So far 10 patients were described with mutations in ALDH18A1. Features of our patient that have been described in literature included cutis laxa on hands and feet, visible veins on thorax and abdomen, joint laxity, failure to thrive, short stature, microcephaly, and severe developmental and speech delay. Furthermore, abnormal fat distribution, retinal abnormalities, undescended testis, and retinitis pigmentosa have never been described in ALDH18A1. Some features described as unique in ALDH18A1 have been observed in PYCR1 patients, thus suggesting that the phenotypic overlap is higher than previously shown.In conclusion, the clinical phenotype caused by ALDH18A1 mutations is diverse, with variable degree of progeria in children, but always in association with neurologic disease. We suggest genetic testing for possible ALDH18A1 mutations in all patients with progeroid features, like wrinkled or parchment-like skin, abnormal growth, especially with central nervous system involvement and microcephaly.     

Early Vitrectomy for Severe Proliferative Diabetic Retinopathy in Eyes with Useful Vision: Clinical Application of Results of a Randomized Trial—Diabetic Retinopathy Vitrectomy Study Report 4

Six patients are described, each of whom underwent early vitrectomy for advanced, active, proliferative diabetic retinopathy (PDR) in an eye with useful vision. These cases were selected to illustrate the spectrum of retinopathy severity for which early vitrectomy should be considered and the favorable outcome that can follow this procedure. None of the eyes that had an unfavorable result after early vitrectomy is presented. The eyes most suitable for early vitrectomy are those in which both fibrous proliferations and at least moderately severe new vessels are present, and in which extensive scatter photocoagulation has already been carried out or is precluded by vitreous hemorrhage.     

超早产儿早产儿视网膜病变的发病情况及危险因素分析

目的:分析8年间孕周<28周的超早产儿（EPI）早产儿视网膜病变（ROP）的发生情况及危险因素。方法:回顾性研究。2011年1月1日至2018年12月31日天津市中心妇产科医院新生儿重症监护病房收治的孕周<28周的EPI 300例纳入研究。记录EPI出生孕周（GA）、出生体重（BW）、性别等基本资料和新生儿呼吸窘迫综合...     

三七皂苷对高氧诱导的早产儿视网膜病变小鼠血管新生及脂联素和肿瘤坏死因子-α表达的影响

目的 研究三七皂苷对高氧诱导的早产儿视网膜病变(ROP)小鼠血管新生及脂联素(APN)和肿瘤坏死因子-α(TNF-α)表达的影响.方法 将45只新生C57BL/6J小鼠按随机数字表法分为正常对照组、ROP组和三七皂苷组,每组15只.采用Smith法建立ROP模型.三七皂苷组小鼠每日腹腔注射三七皂苷药液4μL,正常对照组...     

早产儿视网膜病变患儿血清谷氨酸水平变化的意义及其对预后的影响

目的探讨早产儿视网膜病变(ROP)患儿血清谷氨酸水平与病情严重程度之间的关系及其对预后的影响。方法选取2017年6月至2018年6月在河南省立眼科医院筛查并诊治的92例ROP患儿及同期河南省立眼科医院筛查的50例健康早产儿(对照组)进行临床对照研究,92例ROP患儿根据病变分期分为轻度ROP组和重度ROP组,依据病情进展与否分为自然消退组和病情进展组,通过测定各组儿童出生1周和出生6周血清谷氨酸水平,分析其与ROP病情严重程度的关系及其对预后评估的意义。结果重度ROP组患儿出生1周血清谷氨酸水平[(122.08±14.55)mmol/L]和出生6周血清谷氨酸水平[(107.13±13.20)mmol/L]最高,轻度ROP组患儿次之[分别为(98.60±14.48)mmol/L、(85.41±14.49)mmol/L],对照组患儿最低[分别为(68.52±7.69)mmol/L、(54.97±6.31)mmol/L],3组比较差异有统计学意义(均P<0.05);Pearson相关性分析提示出生1周和出生6周血清谷氨酸水平均与ROP病情严重程度均呈正相关(r=0.869、0.875,均P<0.05)。病情进展组患儿出生1周及出生6周血清谷氨酸水平[(107.18±17.62)mmol/L、(92.94±16.21)mmol/L]均显著高于自然消退组患儿[(131.53±10.22)mmol/L、(118.82±8.18)mmol/L],2组间比较差异均有统计学意义(均P<0.05)。出生1周和出生6周血清谷氨酸水平预测ROP病情进展患儿受试者工作特征曲线(ROC)下面积分别为0.855、0.936,根据ROC曲线结果,分别确定出生1周和出生6周血清谷氨酸水平最佳临界值分别为117.83 mmol/L(敏感性为0.909,特异性为0.728)、106.69 ng/L(敏感性为1.000,特异性为0.790)。结论出生1周和出生6周血清谷氨酸水平与ROP患儿病情严重程度呈正相关,同时出生1周和出生6周血清谷氨酸水平最佳临界值预测患儿疾病进展的敏感性和特异性均较高,对患儿预后评估具有较高的价值。     

本院出生和外院转运早产儿视网膜病发病情况的对比研究

目的探讨广东省妇幼保健院出生和外院转运早产儿视网膜病(ROP)的发病及诊治情况。方法回顾性分析2013年1月至2015年12月收入广东省妇幼保健院新生儿重症监护室并诊断为ROP的755例早产儿的临床资料。本院出生组239例,外院转运组516例。收集2组患儿的胎龄、体质量、性别、ROP病变程度及手术治疗等资料。结果外院转运组ROP早产儿出生体质量[(1290.64±392.87)g]低于本院出生组[(1586.21±512.74)g],差异有统计学意义(P<0.001);外院转运组ROP早产儿诊断胎龄[(35.53±2.81)周]高于本院出生组[(34.51±2.17)周],差异有统计学意义(P<0.001);外院转运组严重ROP[如病变Ⅰ区、急进性后部型早产儿视网膜病(AP-ROP)、合并Plus病变]所占比例高于本院出生组,差异均有统计学意义(均P<0.001);外院转运组ROP早产儿行激光光凝术、玻璃体注药术、二者联合术、补激光术治疗所占比例均高于本院出生组[60.1%(310/516例)比20.9%(50/239例);10.9%(56/516例)比2.5%(6/239例);8.1%(42/516例)比1.7%(4/239例);4.5%(23/516例)比1.3%(3/239例)],差异均有统计学意义(均P<0.001)。结论外院转运ROP早产儿出生体质量较低,ROP病变较重,手术干预率高。提高基层医院早产儿ROP筛查水平,及时诊断和高效转运可有效防止ROP进一步恶化,提高早产儿生活质量。     

早产儿视网膜病变自然消退儿童的屈光研究

目的研究早产儿视网膜病变(ROP)自然消退儿童的屈光状态。方法回顾性病例对照研究,收集ROP自然消退儿童72例(144眼)为观察组,将该组儿童根据验光检查时年龄分为3组:矫正胎龄≤1岁,1岁矫正胎龄≤2岁,2岁矫正胎龄≤3岁。同时收集无ROP早产儿童180例(360眼)为对照组,也将该组儿童根据验光检查时年龄分为3组:矫正胎龄≤1岁,1岁矫正胎龄≤2岁,2岁矫正胎龄≤3岁。分别测量并比较观察组和对照组的三个不同年龄段儿童的屈光状态。结果观察组与对照组间的平均等效球镜度、平均散光度、近视比例、高度近视比例、远视比例、散光比例等指标的差异均无统计学意义。结论 ROP自然消退儿童3岁前的屈光状态与无ROP早产儿童无显著差异,均以正视和远视为主,仅有部分儿童呈近视状态,极少部分儿童呈高度近视状态。     

Neonatal RBC transfusions: Do benefits outweigh risks?

Preterm neonates represent one of the most transfused categories of patients. Their target hematocrits, however, are mainly based on expert opinion. The risk of transfusions are very high in the smallest preterm baby with a weak immune response, immature antioxidant ability, fragile germinal matrix and impaired cerebral autoregulation, yet red cell transfusions remain the only life saving measure in the baby with symptomatic anemia.Minimizing phlebotomy losses, following a restrictive transfusion policy and using screened, leukocyte depleted, irradiated, single donor blood remain the best means of avoiding the possible risks while maximizing the benefits of red cell transfusions in the preterm newborn.     

丹酚酸A改善ZDF大鼠视网膜病变及其作用机制

目的观察丹酚酸A(SAA)对Zucker糖尿病肥胖(ZDF)大鼠视网膜病变的干预作用,探讨SAA可能的作用机制。方法取7~8周龄雄性ZDF大鼠32只,Purina#5008饲料饲喂4周后,按血糖平均分为模型对照组,SAA高、低剂量组与二甲双胍(Met)组,每组8只。另取同龄雄性ZL大鼠8只作为正常对照。SAA低、高剂量组每日尾静脉注射SAA 0.5 mg/kg、1 mg/kg,Met组每日经口灌胃Met 200 mg/kg,连续给药12周,观察ZDF大鼠白内障发生率和视网膜病理学改变,并检测血糖血脂、糖化血红蛋白(Hb A1c)和血清白介素1(IL-1)、IL-6、氧化性低密度脂蛋白(ox-LDL)、丙二醛(MDA)含量和脂蛋白相关磷脂酶A2(Lp-PLA2)的活性,以及尿液中转铁蛋白(TRF)、视黄醇结合蛋白(RBP)的含量。结果模型对照组大鼠血糖、血脂及Hb A1c均上升,糖尿病性白内障发病率68.75%,视网膜基底增厚和微血管病变,血清IL-1、IL-6、ox-LDL和MDA含量和Lp-PLA2活性显著升高,尿液中TRF和RBP含量亦显著升高。给予SAA后,ZDF大鼠白内障发病率降低,视网膜病理学形态有不同程度的改善,血清IL-1、IL-6、ox-LDL、MDA含量和Lp-PLA2活性下降,尿液中TRF、RBP含量亦下降。结论 SAA能改善ZDF大鼠糖尿病视网膜病变,降低白内障发生率,其作用途径可能与抑制慢性炎症、防止脂质过氧化和降低Lp-PLA2活性有关。     

湖北地区早产儿视网膜病变筛查结果分析

目的:探讨湖北地区早产儿视网膜病变(ROP)发病特点及筛查策略。方法:收集在我院行RetCamⅡ眼底检查和间接眼底镜检查的早产儿,记录其出生胎龄、出生体重、吸氧情况、Apgar评分及每次筛查时矫正胎龄、体重等临床资料,采用国际通用的ROP诊断方法诊断,有病变患儿随访至眼底情况稳定或激光治疗。结果:共有195例早产儿完成眼科筛查和全身情况记录,其中男128例(占65.6%),女67例(占34.4%);出生体重为1070-3800g,平均体重(1972.2±478.3)g;孕周26-36周,平均孕周(33.1±2.4)周。195例早产儿中,ROP患儿38例(62只眼),分别占早产儿例数及眼数的19.5%和15.9%,Ⅰ期23例(34只眼),占总例数的11.8%;Ⅱ期13例(24只眼),占总例数的6.7%,Ⅲ期2例(4只眼),占总例数的1.0%;Ⅳ期及Ⅴ期尚未发现。5例患儿行激光治疗。结论:本研究中ROP的发生率为19.5%,其发生与多因素有关,出生体重越小、胎龄越小、氧疗时间越长,ROP的危险性越大,防治ROP的关键在于早期进行筛查与及时治疗。