Late-Onset Central Areolar Choroidal Dystrophy Caused by a Heterozygous Frame-Shift Mutation Affecting Codon 307 of the Peripherin/RDS Gene

Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two siblings underwent genetic testing and were found to be carriers of a heterozygous frame-shift mutation 920delT affecting codon 307 of the peripherin/RDS gene and resulting in a truncated, likely functionless, protein with an altered C-terminus (Leu307fsX83). The identical mutation has previously been reported to cause slowly progressive autosomal dominant retinitis pigmentosa. In our two patients, the Leu307fsX83 mutation accounts for an unusually mild form of retinal degeneration.     

Gender-related effects of prenatal administration of estrogen and progesterone receptor antagonists on VEGF and surfactant-proteins and on alveolarisation in the developing piglet lung

Background

Vascular endothelial growth factor (VEGF) is essential for embryonic lung development and has been shown to be regulated by estradiol (E2) and progesterone (P).

Aim

To investigate the effects of prenatal E2 and P withdrawal by specific receptor antagonists on the mRNA expression of VEGF, surfactant proteins (SP-B and SP-C) and on alveolarisation in lung tissue of male and female pig fetuses.

Methods

Fetuses from 10 sows were randomized to receive either both an intramuscular injection of the E2 receptor blocker ICI 182.780 and the P receptor blocker RTI 3021-022 (ICI + RTI, n = 5) or a placebo injection (n = 5) at 90 days of gestation (DOG, 115 = term). After delivery by cesarean section on 114 DOG, tissue of the left lingula of the piglet's lung (28 placebo, 26 ICI + RTI) was obtained to determine the mRNA expression of VEGF, SP-B and SP-C. Lungs from 15 placebo and 14 ICI + RTI group piglets were removed and alveolar counts performed.

Results

The ICI + RTI group showed significantly lower SP-C mRNA expression and alveolar counts compared to the placebo group (p = 0.04 and 0.03, respectively). Diminished alveolarisation in the ICI + RTI group was mainly due to the reduction of alveolar counts in male piglets (p = 0.02). Within the placebo group VEGF and SP-B mRNA expression in male piglets were significantly lower compared to female piglets (p = 0.01 and 0.004, respectively). ICI + RTI treatment abolished this gender-related difference.

Conclusion

Estradiol and P antagonism affected gender-related differences of key proteins for pulmonary function and development and especially in males was associated with diminished alveolarisation.     

间歇性外斜视不同视差立体视的临床观察

目的 了解间歇性外斜患者不同立体视觉的临床变化.方法 对38例间歇性外斜患者,屈光矫正后,采用颜少明<数字化立体视觉检查图-2006年版>行近零视差立体视敏度、交叉视差和非交叉视差立体视检查,Titmus立体视检查,采用同视机随机点市体视画片检查远立体视.对检测结果进行分析.结果 (1)具有可测得的远立体视,即同视机随机点立体视的患者13例(34%),并且均有正常的近零视差、交叉视差、非交叉视差的立体视觉.即:Titmus为40"或60";RDS为40"或60";交叉视差、非交叉视差均≥600".(2)未检测出远立体视患者25例(66%).其中:①近零视差Titmus和RDS为40"或60"患者14例,且均有正常的交叉视差、非交义视差的立体视觉.②近零视差RDS>60"患者11例.其中非交叉视差正常4例,交义视差亦正常;非交叉视差异常7例,有正常的交叉视差者2例,交义视差异常5例.未出现非交叉视差正常而交叉视差异常者.近零视差立体视正常者的交叉/非交叉正常检出率明显高于近零视差异常者(P=0.001).结论 此研究推测各种立体视易受损害程度顺序可能为:远立体视>近零视差>非交叉视差>交叉视差立体视觉.符合精细立体视先于粗放立体视受损.     

Early Intervention of Intravenous KB220IV- Neuroadaptagen Amino-Acid Therapy (NAAT)™ Improves Behavioral Outcomes in a Residential Addiction Treatment Program: A Pilot Study

Abstract

Substance use disorders (SUD) are inheritable and the culprit is hypodopaminergic function regulated by reward genes. We evaluated a natural dopaminergic agonist; KB220 intravenous (IV) and oral variants, to improve dopaminergic function in SUD. Our pilot experiment found a significant reduction of chronic symptoms, measured by the Chronic Abstinence Symptom Severity (CASS) Scale. The combined group (IV and oral) did significantly better than the oral-only group over the first week and 30-day follow-up period. Next, the combination was given to129 subjects and three factors; Emotion, Somatic, and Impaired Cognition, with eigenvalues greater than one were extracted for baseline CASS-Revised (CASS-R) variables. Paired sample t-tests for pre and post-treatment scales showed significant declines (p = .00001) from pre- to post-treatment: t?=?19.1 for Emotion, t?=?16.1 for Somatic, and t?=?14.9 for Impaired Cognition. In a two-year follow-up of 23 subjects who underwent KB220IV therapy (at least five IV treatments over seven days) plus orals for 30+ days: 21 (91%) were sober at six months, 19 (82%) having no relapse; 19 (82%) were sober at one year, 18 (78%) having no relapse; and 21 (91%) were sober two-years post-treatment, 16 (70%) having no relapse. We await additional research and advise caution in interpreting these encouraging results.     

机械通气治疗后并发急性呼吸窘迫综合征的危险因素分析

目的:探索呼吸功能正常患者接受机械通气治疗发生急性呼吸窘迫综合征(ARDS)的危险因素。方法:回顾分析自2002年—2007年间接受通气治疗超过48h的患者资料,比较入住时呼吸功能正常患者是否发生ARDS之间的不同。结果:共有823例患者接受了超过48h的机械通气治疗。其中751例患者符合入选标准,接受机械通气治疗时临床上排除充血性心功能衰竭,明确无ARDS存在,但在随后的治疗期间139例最后发生ARDS。单因素回归分析表明高吸气峰压(相对危险度OR值1.70,可信区间CI1.41～2.07),PEEP(相对危险度OR值1.76,可信区间CI1.45～2.14)和潮气量(相对危险度OR值1.07,可信区间CI1.06～1.10)增加是显著危险因素。非机械通气相关的因素包括脓毒血症,低pH值,低白蛋白,血浆,高净液体输入和低呼吸顺应性。多元回归分析表明机械通气相关因素PEEP及潮气量影响ARDS。而峰气道压,平台压均与ARDS无关。结论:机械通气设置等因素潮气量及PEEP与ARDS密切相关。合理设置参数可以一定程度上预防部分患者发生ARDS。     

采用同伴推动抽样法进行男男性接触人群HIV／STD流行病学调查的探索

目的探索同伴推动抽样法（Respondent driven sampling，RDS）在我国男男性接触（MSM）人群调查的可行性。方法使用RDS对北京市MSM进行抽样调查及血清学检测，了解他们艾滋病病毒（HIV）、性病感染状况及行为特点；采用RDSAT软件进行统计分析，NETDRAW和EXCEL作图。结果共征募MSM　325人，其中35岁以下占90．5％，未婚占83．0％（95％CI：76．4～88．9），外地户籍为61．9％（95％CI：54．0～70．1）；HIV感染率为0．4％（95％CI：0．1～0．5），梅毒抗体阳性率为13．7％（95％CI：9．1～19．0），梅毒RPR阳性率6．0％（95％CI：3.8～8．7）；56．2％（95％CI：50．0～65．0）为男性性取向，88．9％首次性行为年龄≤24岁，56．3％（95％CI：49．5～64．0）半年内有≥2个性伴，近6个月无保护插入性肛交为51.8％（95％CI：44．0～59．4），无保护被插入性肛交为44．8％（95％CI：37．2～52．3）。结论RDS简便易行，无需过多凋查员投入前期准备工作，实为开展隐匿人群调查的行之有效的方法之一。北京市MSM人群HIV感染率可能处于低水平．但存在HIV行隐患。     

Biochemical lung maturity,static respiratory compliance,and pulmonary gas transfer in intubated preterm infants with and without respiratory distress syndrome

We investigated the relationship between tests of biochemical lung maturity [lecithin/ sphingomyelin ratio (L/S ratio)], static compliance of the respiratory system (C_rs), and estimates of pulmonary gas transfer [venous admixture and arterial/alveolar (a/A) ratio] in a group of intubated preterm infants with and without respiratory distress syndrome (RDS). Thirty infants were studied once (n = 26) or twice (n = 4). The L/S ratio was obtained by means of high-performance thin-layer chromatography and determination of the phosphorus content. C_rs was obtained by the multiple occlusion technique. Transcutaneous blood gases and the percentage of oxygen in the inspired gas were recorded and estimates of pulmonary gas transfer were calculated using algorithms. L/S ratio and C_rs correlated well (r = 0.73), indicating a higher compliance in biochemically more mature lungs. Both the a/A ratio and venous admixture correlated significantly with the L/S ratio and C_rs (P < 0.001). C_rs L/S ratio, and a/A ratio decreased with increasing severity of radiological RDS, and the percentage venous admixture increased (P < 0.001). Sequential measurements in four infants during the acute phase and after RDS resolved indicated that clinical improvement coincided with improvements in biochemical lung maturity, C_rs, and estimates of pulmonary gas transfer. Pediatr Pulmonol. 1995; 20:152–159 . © 1995 Wiley-Liss, Inc.     

Das Verhalten der Gerinnungsfaktoren bei hypoxischen Neugeborenen unter der Puffertherapie

Zusammenfassung Blutproben von 27 Kindern mit Atemnotsyndrom wurden vor und während der Infusionsbehandlung mit Na-Bicarbonat- und Trispuffer in den ersten 24 Lebensstunden mehrmals auf die Aktivität der Thromboplastinzeit und der Faktoren II, V, VII, IX sowie X untersucht. 12 Kinder überlebten und 15 Kinder verstarben an den Folgen der Hypoxie, von denen 8 Neugeborene einen massiven Haematocephalus internus aufwiesen. Ein negativer Einfluß der Pufferbehandlung auf die Aktivität der Gerinnungsfaktoren konnte für alle Gruppen abgelehnt werden. Bei versterbenden Neugeborenen war von vornherein der Prothrombin- und der Faktor V-Gehalt des Plasmas signifikant im Vergleich zu den überlebenden Kindern vermindert, auch bestanden sichere Unterschiede in der Höhe des Quickwerts und der Aktivität des Prothrombins sowie des Faktor VII nach 24 Std. Eine gesicherte Aktivitätszunahme wurde bei den versterbenden Neugeborenen für den Quickwert und für den Faktor VII nach 24 Std vermißt, während der Faktor II und der Faktor X zu dieser Zeit wie bei den überlebenden Kindern mit ANS signifikant über den Ausgangswerten lagen. Kinder mit autoptisch gesichertem Haematocephalus internus wiesen keine gerinnungsanalytischen Unterschiede zu den anderen an Hypoxie versterbenden Neugeborenen auf.

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The relationship of coagulation factors to hypoxic newborn infants during therapy with buffer solutions

Summary The activity of Quick's thromboplastic time and the activity of accelerator globulin, proconvertin, Christmas factor and Stuart-Prower factor were studied several times before onset and during 24 h of buffer therapy in 27 newborn infants with RDS. 12 children with RDS lived and 15 infants died, 8 of them with accompanying massive intracranial bleeding at autopsy. The therapy with buffers did not influence the activity of coagulation factors in any group of the newborn infants. However, infants with RDS who died had a significantly lower activity of prothrombin and proaccelerin before onset of therapy compared with those who lived, and also the levels of Quick's time, prothrombin, and proconvertin had a significantly higher activity at 24 h in the group of living children. A significant increase of prothrombin and of Stuart-Prower factor at 24 h were similar in all groups (living and dead children with RDS), but no significant increase of Quick's time and proconvertin was found in the infants who died. Infants with accompanying CNS haemorrhage had the same values of coagulation factors as those with RDS who died.