Anomalies in an infant with Nager acrofacial dysostosis

We report on an infant with Nager acrofacial dysostosis, laryngeal and epiglottic hypoplasia, abnormal septation of the right middle lobe of the lung, hypoplastic right first rib, and dislocation of the right hip. These findings suggest the possibility that patients with the Nager syndrome may have other developmental defects in addition to the facial and acral anomalies associated with this syndrome.     

重症急性胰腺炎合并急性呼吸窘迫综合征的临床分析

目的探讨重症急性胰腺炎（SAP）合并急性呼吸窘迫综合征（ARDS）患者的临床特点和治疗经验。方法回顾分析2004年至2007年诊治的93例SAP及合并ARDS患者的临床特点和预后。结果 SAP合并ARDS患者在入院时的Ranson评分、APACHEⅡ评分、胰腺CT严重度指数、发病72 h时脏器功能障碍数目和未合并ARDS的患者有显著差异（P〈0.01）。SAP患者的死亡率为21.5%（20/93）,其中合并ARDS患者死亡率为35.0%（14/40）;而未合并ARDS患者的死亡率为11.3%（6/53）（P〈0.01）。SAP发病72 h以内发生ARDS的患者的死亡率为55.6%（10/18）,于SAP发病72 h后发生ARDS的患者的死亡率为18.2%（4/22）（P〈0.05）,两者从SAP发病至死亡的时间分别为（7.3±5.0）d和（15.3±8.4）d,有显著性差异（P〈0.05）。合并ARDS的SAP患者在死亡时平均累计有3.5个脏器功能障碍。结论 SAP合并的ARDS发生越早,死亡率越高。密切监测ARDS的高危患者,并在ARDS早期即给予保护性的呼吸机辅助通气,有助于ARDS的救治和降低SAP的死亡率。     

产前应用沐舒坦预防早产儿呼吸窘迫综合征的临床研究

目的探讨产前应用沐舒坦对早产儿RDS的预防作用.方法孕27～34w面临早产或计划分娩的妇女80例,随机分为沐舒坦组和激素组各40例,观察早产儿RDS的发生率及严重程度,以及母婴感染等不良反应发生率.结果 (1)沐舒坦组早产儿RDS发生率为15.9 %,激素组为34.1 %,两组有显著性差异(P＜0.05);(2)沐舒坦组RDS的严重程度较激素组轻,有显著差异;(3)沐舒坦组早产儿获得性肺炎明显低于激素组(P＜0.05).结论产前预防性应用沐舒坦能减少早产儿RDS的发生率,与肾上腺皮质激素比较有减轻RDS严重程度,减少早产儿获得性肺炎的优越性.     

Hemimelia in Brachmann-de Lange syndrome (BDLS): A patient with severe deficiency of the upper and lower limbs

We report on a male infant with Brachmann-de Lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS. © 1993 Wiley-Liss, Inc.     

急性呼吸窘迫综合征的药物治疗

急性呼吸窘迫综合征(acute respiratory distress syndrome,ARDS)的防治是多途径、综合性的救治过程.目前尚无治疗急性肺损伤(acute lung injury,ALI)/ARDS的特效药物,对其有缓解作用的药物主要针对其的急性渗出期、炎症反应或氧化损伤以及纤维增生期.联合多种药理因素...     

A practical approach to adult acute respiratory distress syndrome

Acute respiratory distress syndrome (ARDS) is a common disease encountered in hospitalized adult patients that, historically, has carried a very high mortality. This article reviews the clinical features and how pathophysiology informs the evidence-based management of ARDS.     

Celastrol attenuates impairments associated with lipopolysaccharide-induced acute respiratory distress syndrome (ARDS) in rats

Celastrol, a constituent from a traditional Chinese medicinal herb belonging to the family Celastraceae, has been shown to impart anti-inflammatory properties, in part, by inhibiting NF-κB activity and related induction of pro-inflammatory cytokine formation/release. The present study investigated the effects of celastrol in an animal model of acute respiratory distress syndrome (ARDS) induced by intratracheal administration of lipopolysaccharides (LPSs). Celastrol pre-treatment groups received celastrol by intraperitoneal injection on seven consecutive days before LPS treatment. In rats evaluated 24?h after LPS administration, oxygenation indices and lung injury were measured, as were levels of inflammatory cells and cytokines in isolated bronchoalveolar lavage fluid (BALF). Lung tissue expression of proteins involved in NF-κB and ERK/MAPK pathways were measured by Western blot analyses. Celastrol pre-treatments appeared to attenuate LPS-induced lung injury and inflammatory responses in the rats, including decreases in inducible aggregation\infiltration of inflammatory cells and production/release of pro-inflammatory cytokines into the lung airways. Celastrol appeared to also inhibit NF-κB activation, but had no effect on ERK/MAPK pathways in the LPS-induced ARDS. The results here thus indicated that celastrol pre-treatment could impart protective effects against LPS-induced ARDS, and that these effects may be occurring through an inhibition of induction of NF-κB signaling pathways.     

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature

We evaluated a newborn with acrofacial dysostosis in whom a clinical diagnosis of Nager syndrome was entertained. Radiographs revealed hypoplasia of the scapulae and bilateral humeroradial synostosis, with absent ulna on the left and hypoplastic ulna on the right. The finding of bilateral humeroradial synostosis had not been seen in cases of Nager syndrome before and we considered other diagnoses. Humeroradial synostosis has been found in three cases of acrofacial dysostosis Rodriguez type, a syndrome characterized by mandibular hypoplasia, upper and lower extremity phocomelia, and oligodactyly of the upper limbs. More recently, haploinsufficiency of the SF3B4 gene has been identified as the cause of both Nager and Rodriguez syndrome, leading many to believe that Rodriguez syndrome represents a more severe end of a Nager syndrome spectrum. An SF3B4 mutation was found in our patient, prompting a review of the previous known cases of Rodriguez syndrome, which revealed no clustering of SF3B4 mutations, and four cases of Rodriguez syndrome with mutations identical to those in cases of Nager syndrome. Rodriguez syndrome was previously thought of as a lethal acrofacial dysostosis distinct from Nager syndrome. A number of more mild cases, as well as our case, intermediate between the two phenotypes, illustrate that Rodriguez syndrome is a severe manifestation of Nager syndrome, and is not lethal with aggressive medical care.     

Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences

A key cause of respiratory distress syndrome (RDS) in the prematurely born infant is deficiency of pulmonary surfactant, a lipoprotein complex. Both low levels of surfactant protein A (SP-A) and SP-A alleles have been associated with RDS. Using the candidate gene approach, we performed family-based linkage studies to discern linkage of SP-A to RDS and identify SP-A susceptibility or protective alleles. Moreover, we performed case-control studies of whites and blacks to detect association between RDS and SP-A alleles. Transmission disequilibrium test (TDT) analysis revealed that the frequency of transmission (from parent to the offspring with RDS) of alleles 6A(2) and 1A(0) and of 1A(0)/6A(2) haplotype in RDS was increased, whereas transmission of alleles 1A(5) and 6A(4) and of haplotype 1A(5)/6A(4) was decreased. Extended TDT analysis further strengthened the observations made. The case-control studies showed that in whites or blacks with RDS the frequencies of specific genotypes, 1A(0) and 6A(2) or 1A(0), were increased, respectively, but the frequency of specific 6A(3) genotypes was increased in certain white subgroups and decreased in blacks. Regression analysis revealed gestational age (GA) and 6A(3) genotypes are significant factors in blacks with RDS. In whites with RDS, GA and antenatal steroids are important factors. The data together indicate linkage between SP-A and RDS; certain SP-A alleles/haplotypes are susceptibility (1A(0), 6A(2), 1A(0)/6A(2)) or protective (1A(5), 6A(4), 1A(5)/6A(4)) factors for RDS. Some differences between blacks and whites with regard to SP-A alleles may exist.     

Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies

We report on an infant with preaxial acrofacial dysostosis (Nager syndrome) who was diagnosed prenatally as having an apparently balanced X/autosome translocation [46,X,t(X;9)(p22.1;q32)mat] inherited from a previously diagnosed mosaic translocation carrier mother [46,XX/46,X,t(X;9)(p22.1;q32)]. Replication studies on amniocytes showed the normal X chromosome to be late replicating while the same studies repeated on the infant's lymphocytes showed the translocated X chromosome to be late replicating in most cells. Late replication studies of the mother's lymphocytes demonstrated that the normal X chromosome was late replicating in most cells. The presence of Nager syndrome in this infant may be the result of critical break-points and/or position effects on chromosome 9, inducing expression of a gene responsible for the syndrome. © 1993 Wiley-Liss, Inc.     

Isolation and phenotypic characteristics of microparticles in acute respiratory distress syndrome

Objective: To investigate the alterations of microparticles in acute respiratory distress syndrome (ARDS) in rats. Methods: 18 Wistar male rats were randomly divided into three groups: no intervention, sham (saline control) group and ARDS group (LPS induced). Blood was collected from abdominal aorta and microparticles were extracted through multiple rounds of centrifugation. Particles were analyzed by flow cytometry and transmission electron microscope. Results: The circulating concentration of total microparticles of rats with ARDS induced by lipopolysaccharide (LPS) did not change compared with other two groups. However, ARDS rats expressed higher concentration of leukocyte- and endothelium- derived microparticles in the three groups. Conclusion: Our results indicate that leukocyte and endothelial cell-derived particles may play an important role in ARDS. Thus it is important not only to monitor total microparticle levels but also the phenotypes, which may contribute to the prevention and early treatment of ARDS.     

Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case

Acrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.     

Elevated concentrations of leukotriene D4 in pulmonary edema fluid of patients with the adult respiratory distress syndrome

The possible contribution of metabolites of arachidonic acid to the increased permeability of the alveolar-capillary barrier in the adult respiratory distress syndrome was examined by quantifying the pulmonary edema fluid concentrations of lipoxygenase and cyclooxygenase products. The concentration of leukotriene D₄ in pulmonary edema fluid of 10 patients with the adult respiratory distress syndrome (18.5±6.8 pmol/ml; mean±SD), assessed by specific radioimmunoassay after isolation of the mediator, was significantly higher (P<0.001) than that of five patients with cardiogenic pulmonary edema (4.4±1.1 pmol/ml). The concentrations of leukotrienes B₄ and C₄, prostaglandin E₂, and thromboxane B₂ in edema fluid were not significantly different in the adult respiratory distress syndrome patients than in the other subjects with pulmonary edema. The edema fluid concentration of leukotriene D₄ correlated with the ratio of edema fluid to plasma concentrations of albumin (r=0.64). Leukotriene D₄ thus may contribute to the permeability defect which allows an accumulation of proteinrich alveolar fluid in the adult respiratory distress syndrome.This work was supported in part by Grants HL31809, HL25816, HL19155, and AI19784 from the National Institutes of Health.     

胸外科术后急性呼吸窘迫综合征的临床分析

目的：探讨胸外科术后急性呼吸窘迫综合征的防治措施。方法：回顾性分析21例开胸术后发生急性呼吸窘迫征患者的临床资料。结果：综合治疗为胸外科术后急性呼吸窘迫综合征的有效方法,有效率85．71％。治疗前后的生理指标改善明显。结论：早期和综合治疗对胸外科术后急性呼吸窘迫综合征具有重要意义。     

Alveolar recruitment maneuvers in acute lung injury/acute respiratory distress syndrome

Mechanical ventilation can worsen lung damage in acute lung injury and acute respiratory distress syndrome. The use of low tidal volumes is one of the strategies that has been shown to reduce lung injury and improve outcomes in this situation. However, low tidal volumes may lead to alveolar derecruitment and worsening of hypoxia. Recruitment maneuvers along with positive end-expiratory pressure may help to prevent derecruitment. Although recruitment maneuvers have been shown to improve oxygenation, improved clinical outcomes have not been demonstrated. The optimal recruitment strategy and the type of patients who might benefit are also unclear. This review summarizes the impact of recruitment maneuvers on lung mechanics and physiology, techniques of application, and the clinical situations in which they may be useful.     

Alveolar surfactant and adult respiratory distress syndrome

Summary The adult respiratory distress syndrome (ARDS) is characterized by extended inflammatory processes in the lung microvascular, interstitial, and alveolar compartments, resulting in vasomotor disturbances, plasma leakage, cell injury, and complex gas exchange disturbances. Abnormalities in the alveolar surfactant system have long been implicated in the pathogenetic sequelae of this life-threatening syndrome. This hypothesis is supported by similarities in pulmonary failure between patients with ARDS and preterm babies with infant respiratory distress syndrome, known to be triggered primarily by lack of surfactant material. Mechanisms of surfactant alterations in ARDS include: (a) lack of surface-active compounds (phospholipids, apoproteins) due to reduced generation/release by diseased pneumocytes or to increased loss of material (this feature includes changes in the relative composition of the surfactant phospholipid and/or apoprotein profiles); (b) inhibition of surfactant function by plasma protein leakage (inhibitory potencies of different plasma proteins have been defined); (c) incorporation of surfactant phospholipids and apoproteins into polymerizing fibrin upon hyaline membrane formation; and (d) damage/inhibition of surfactant compounds by inflammatory mediators (proteases, oxidants, nonsurfactant lipids). Alterations in alveolar surfactant function may well contribute to a variety of pathophysiological key events encountered in ARDS. These include decrease in compliance, ventilation-perfusion mismatch including shunt flow due to altered gas flow distribution (atelectasis, partial alveolar collapse, small airway collapse), and lung edema formation. Moreover, more speculative at the present time, surfactant abnormalities may add to a reduction in alveolar host defense competence and an upregulation of inflammatory events under conditions of ARDS. Persistent atelectasis of surfactant-deficient and in particular fibrin-loaded alveoli may represent a key event to trigger fibroblast proliferation and fibrosis in late ARDS (collapse induration). Overall, the presently available data on surfactant abnormalities in ARDS lend credit to therapeutic trials with transbronchial surfactant administration. In addition to the classical goals of replacement therapy defined for preterm infants (rapid improvement in lung compliance and gas exchange), this approach will have to consider its impact on host defense competence and inflammatory and proliferative processes when applied in adults with respiratory failure.Abbreviations ARDS adult respiratory distress syndrome - IRDS infant respiratory distrss syndrome - PC phosphatidylcholine - PG phosphatidylglycerol - PE phosphatidylethanolamine - PS phosphatidylserine - PI phosphatidylinositol - Sph spingomyelin - BAL bronchoalveolar lavage - TNF tumor necrosis factor Dedicated to Prof. Dr. N. Zöllner on the occasion of his 70th birthday     

肾移植术后巨细胞病毒性肺炎并发急性呼吸窘迫综合征中治疗方案分析

目的 探讨有创通气治疗、有创-无创通气治疗方案在肾移植术后巨细胞病毒性肺炎并发急性呼吸窘迫综合症（acute respiratory distress syndrome,ARDS）治疗中的应用价值.方法 将50例肾移植术后巨细胞病毒性肺炎并发ARDS患者随机分为两组,以接受常规有创通气治疗者为对照组,以接受有创-无创通气治疗者为观察组,每组25例,对比两组临床治疗效果.结果 两组治疗前动脉血氧分压（PaO2）、动脉二氧化碳分压（PaCO2）、动脉血Ph值（Ph）、心率（HR）及收缩压（SBP）比较无统计学意义（P＞0.05）,观察组治疗后死亡率明显低于对照组（P＜0.05）.经治疗7天后,两组以上指标均明显改善（P＜0.05）,两组改善程度比较无统计学意义（P＞0.05）.但观察组的首创通气时间、总通气时间、ICU住院时间及肺炎治疗时间均明显低于对照组（P＜0.05）.结论 有创-无创通气治疗方案可显著降低肾移植术后巨细胞病毒性肺炎并发ARDS患者死亡率,改善患者临床治疗效果,并可降低通气相关并发症.