Reye(瑞氏)综合征附3例分析

Reye（瑞氏）综合征即脑病合并内脏脂肪变性综合征,是1963年由Reye首先报告,简称“RS”,是当今世界范围的一种小儿疾病,发病率要比预料的高得多。1975年以来先后多次召开“RS”国际性的学术专题讨论会,但国内还没有引起足够的重视。现将近年来本院见到的资料完整的3例报告如下。     

酷似Reye综合征先天性高氨血症并高乳酸血症一例

报道1例先天性高氨血症并高乳酸血症新生儿,临床表现酷似Reye综合征,抢救成功,随访至1岁,近期预后好。临床上对不明原因的严重酸中毒、高氨血症、高乳酸血症患儿,应及时送尿有机酸及血浆氨基酸分析,排除有机酸血症及氨基酸代谢异常病。     

我国Rasmussen并结合文献复习综合征的临床特点总结

顽固性癫痫中，以Rasmussen综合征（RS）为主的病例约占所有癫痫的1%。RS作为一种少见病例，近年来逐渐引起临床学者们的重视，报道的病例渐有增多。本文试图对国内有关RS的资料作一总结并结合国外相关文献资料进行分析，以期对该病的认识进一步提高。     

我国Rasmussen综合征的临床特点总结并结合文献复习

顽固性癫癎中,以Rasmussen综合征(RS)为主的病例约占所有癫癎的1%.RS作为一种少见病例,近年来逐渐引起临床学者们的重视,报道的病例渐有增多.本文试图对国内有关RS的资料作一总结并结合国外相关文献资料进行分析,以期对该病的认识进一步提高.     

患瑞特尔氏综合征时滑膜组织中的免疫球蛋白沉淀

瑞特尔氏综合征(Reiter's syndrome,RS)的病因未明。为了评价免疫学机制在本病中的作用,我们对12例瑞特尔氏综合征患者进行了滑膜活体组织检查以便确定有无免疫球蛋白和补体成分的沉淀。利用免疫荧光技术,发现11份滑膜组织有免疫球蛋白沉淀。在8份滑膜的血管周围和4份滑膜的间质组织内发现有IgM沉淀。C3在11例血     

对孪生子X失活和同源二体性的研究进一步证明X染色体与Rett综合征无关

英〕舰igeonBR…／AInJHumGenet．1995，56．－647。653Rett综合征（RS）是一种导致精神障碍、癫痛样发作和获得性小头的渐进性疾病。由于缺乏生化学和细胞学特征，诊断仅靠临床征象，即出生时正常，但逐渐丧失与外界交流的能力，并出现异常的僵化性手运动．虽然多数RS为散发性，但少数几个患病家族的存在以及单卵孪生子（MZ）常同时患病；故RS看作是一种遗传性疾病。由于在患病家族中；RS总是发生在女住，表现为母系连锁，Hagber召等提出，RS是一种X连锁的显性突变，这种突变对男性是致死性的，但对女性可生殖性致死。Riccardi则…     

缓解性血清阴性对称性滑膜炎伴凹陷性水肿综合征伴自身免疫溶血性贫血一例并文献复习

正缓解性血清阴性对称性滑膜炎伴凹陷性水肿(remitting seronegative symmetrical synovitis with pitting edema,RS3PE)综合征是一种多发于老年男性的特殊类型风湿性疾病,发病率极低,急性起病,主要表现为对称性手、足屈(伸)肌腱鞘滑膜炎症性水肿,多关节疼痛,实验室检查无特异性,常伴随肿瘤、感染等多种疾病,临床医师容易误诊、漏诊。为提高临床医师对本病的认识,现将我院近期收治的1例误诊为副肿瘤综合征的RS3PE综合征伴贫血患者的临床资料报告如下。     

SF3B1突变型骨髓增生异常综合征亚型发病机制及诊断预后

骨髓增生异常综合征(myelodysplastic syndrome, MDS)是一种以无效、病态造血以及极易向急性髓系白血病(acute myeloid leukemia, AML)转化为特征的克隆性、异质性造血干细胞疾病。环形铁粒幼细胞(ring sideroblasts, RS)是指伴有线粒体铁沉积的有核红细胞,在骨髓涂片铁染色中显示铁颗粒数5个以上,并绕核排列1/3以上。RS是MDS病态造血的一种重要表现。剪接因子3B第1亚单位(splicing factor 3B subunit1,SF3B1)是与骨髓增生异常综合征伴环形铁粒幼细胞增多(myelodysplastic syndrome with ringed sideroblasts, MDS-RS)密切相关的基因,通过研究SF3B1基因突变与RS这一骨髓细胞形态学特征的相关性,对于明确MDS-RS的发病机制,寻找治疗靶点以及对伴RS增高的血液系统疾病的鉴别诊断具有重要意义。     

Reye综合征一例报告

Reye综合征是一种不明原因的以急性脑水肿和内脏弥漫性脂肪变性为特点的疾病。基层医院由于缺乏电镜条件,认识仍不太高。我们遇治一例,经病理证实,现报告如下。 病例报告 男患,11个月,住院号88—3453;因发热,呕吐、腹泻10天入院。起病前无明显诱因出现频繁呕吐,呕吐物为胃内容物,泻水样便10余次/日,无粘液脓血,轻咳。体温持续38～39℃,小便短少,经当地治疗无效入院。第二胎,足月顺产,     

Rett综合征

Rett氏综合征(Rett syndrome,RS)又称大脑萎缩性高氨血症(cerebro-atrophic hyperammonemia),由Rett于1966年首次报道,近年公认为幼儿     

Effect of Reye's syndrome serum on the ultrastructure of isolated liver mitochondria

Reye's syndrome (RS) is characterized by alterations in the ultrastructure of liver mitochondria and a generalized impairment of mitochondrial enzyme activity. Serum from RS patients impairs ATP formation and oxidative phosphorylation of isolated liver mitochondria. We examined the effect of serum from four RS patients (including mild and severe illnesses) to determine whether RS serum induces quantifiable morphometric changes in isolated liver mitochondria. RS serum expands the mitochondrial matrix (matrix = 85 to 91% of cross-sectional area, compared with 65 +/- 12% with control serum, p less than .01) and in many cases the matrix is less dense, cristae are less apparent, and mitochondrial shape is irregular. After incubation with RS serum, mitochondria are also slightly larger (range = 0.563 to 0.492 micron 2) than mitochondria incubated with serum from normal controls (0.421 +/- 0.303 micron 2). These changes are similar to those observed in vivo in RS. The effect of RS serum is largely irreversible, resembling the effect of an uncoupler of oxidative phosphorylation, and corresponds to the free fatty acid concentration in the serum, especially the concentration of serum dicarboxylic acids. Addition of comparable amounts of long chain dicarboxylic acids induces an irreversible expansion and some distortion of mitochondria comparable to that after the addition of RS serum. There is no correlation between alteration in ultrastructure and the presence of salicylates in the serum samples. The results indicate that dicarboxylic acids may play a role in the changes in mitochondrial ultrastructure that characterize RS.     

Animal model of margosa oil ingestion with Reye-like syndrome. Pathogenesis of microvesicular fatty liver

The aetiology and pathogenesis of Reye's syndrome (RS) are incompletely understood. A number of environmental toxins and biological agents, including viruses, have been postulated to cause RS, either acting alone or synergistically. Most investigations have suggested that the primary insult is in the liver mitochondria, leading to a complex biochemical catastrophe, with death from encephalopathy. Margosa oil (MO), a long-chain fatty acid compound, has been shown to cause a Reye-like syndrome with death from hepatoencephalopathy, in children in Malaysia and India. The present time-course study performed in MO-administered mice showed the development of hepatic lesions with many features of RS. MO acts rapidly, within 30 min, on the nuclei of hepatocytes inducing mitoses and binucleated cells. This is followed by mitochondrial injury, with swelling, rarefaction of matrix, loss of dense bodies, pleomorphism, and loss of ribosomes starting at 60 min. There is loss of liver glycogen, and proliferation and hypertrophy of the endoplasmic reticulum (ER), followed by the presence of lipid droplets in the hyaloplasm, and globules within dilated cisterns of the ER. Additional fatty acids from lipolysis of body adipocytes, and fat globules from intestinal MO ingestion further aggravate the liver fatty change. There is evidence of fat globule ingestion by endocytosis into hepatocytes at the level of the sinusoids. The development of microvesicular liver steatosis and glycogen depletion due to involvement of liver cell organelles occur rapidly as in RS.     

A morphometric study of Reye''s syndrome. Correlation of reduced mitochondrial numbers and increased mitochondrial size with clinical manifestations.

Morphometric analysis of liver ultrastructure in 14 children with Reye's syndrome (RS) of varying morphologic severity was compared with that of 6 children with normal livers. Results showed reduced numbers of enlarged mitochondria in RS. Multivariant analysis identified correlations between increased mitochondrial size, decreased mitochondrial number, and severity of neurologic disease (stage). A disproportionate increase in mitochondrial area and perimeter in the RS cases with the most depressed mitochondrial number distinguished the 4 children with residual neurologic damage or death. Serum salicylate concentrations were negatively correlated with severity of morphologic alteration. Two cases of non-RS salicylate toxicity showed normal or near-normal mitochondrial size and number. In fatty liver from an autopsy specimen from a child, a child with carnitine deficiency, and a child on therapy for dermatomyositis, mitochondrial numbers were also normal. Decreased mitochondrial numbers are characteristic of RS and imply a pathophysiologic mechanism, possibly related to impaired mitochondrial replication. Synergism with other forms of mitochondrial injury, such as salicylates, hypoglycemia, or shock may influence clinical severity, progression, and outcome.     

Prognosis and diagnosis of Reye syndrome by discriminant analysis

Discriminant analysis was used to discriminate between Reye syndrome (RS) patients and non-RS cases based either on conventional blood chemistry data obtained upon admission, or on the activities of hepatic mitochondrial enzymes in biopsy or necropsy tissue. The control group for blood chemistry measurements contained children with upper respiratory tract infections, varicella, etc. who did not develop RS, as well as healthy children. Subjects with no liver disorder (e.g., accidental death, sudden infant death, etc.) or with non-RS liver disorders were used as controls for hepatic enzyme studies. Hepatic damage indicators (aspartate aminotransferase, AST; alanine aminotransferase, ALT; and bilirubin) correctly classified 86-96% of non-RS cases and 61-71% of RS. By contrast, AST and ALT had little prognostic value (63% overall correct). Ammonia effectively classified favorable outcome cases (95% correct) but not unfavorable (14% correct). However, when ammonia was included with stage of coma information 88% of the favorable and 85% of the unfavorable outcome cases were correctly classified. Discriminant analysis of hepatic enzymes (glutamate dehydrogenase and monoamine oxidase activity) for a RS and a non-RS group correctly classified 80% of non-RS and 95% of RS specimens. The function was suitable for the direct evaluation of RS-like mitochondrial enzyme changes in rat liver.     

Effects of peroxidized polyunsaturated fatty acids on mitochondrial function and structure: pathogenetic implications for Reye's syndrome

Linoleic acid, a polyunsaturated fatty acid, is a constituent of margosa oil which has been implicated as a cause of Reye's syndrome (RS) in infants. Increased concentrations of polyunsaturated fatty acids have been found in sera from patients with RS. Isolated rat liver mitochondria exposed to the peroxidized (but not unperoxidized) methyl esters of linoleic (C18:2) or linolenic (C18:3) acids showed decreases in state 3 and uncoupled respiratory rates and in respiratory control and ADP/O ratios. In addition, they caused mitochondrial swelling as demonstrated spectrophotometrically. Between the two, the peroxidized methyl ester of linolenic acid was more toxic and was capable of inducing high amplitude swelling ultrastructurally similar to that seen in the hepatocytes of RS victims. The ability of rat liver mitochondria to oxidize glutamate was inversely related to the peroxide concentration in the medium. This accords with the reports of reduced glutamic dehydrogenase activities in the livers of both patients with Reye's syndrome and rats treated with margosa oil.     

Expression of stabilin-1 in M2 macrophages in human granulomatous disease and melanocytic lesions

Abstract: Stabilin-1 is an endocytotic scavenger receptor, specifically expressed by non-continuous sinusoidal endothelial cells in the liver, spleen and lymph nodes and by M2 or alternatively activated macrophages in human malignancies. We analysed paraffin-embedded tissue of melanocytic lesions and granulomatous diseases for stabilin-1 expression, using the human/murine RS1 antibody. The specificity of the RS1 staining was confirmed in a knockout model, as only M2-like tumor-associated macrophages and vessels of a B16F10 melanoma in wild type mice stained positive; while staining of tumor-associated macrophages and vessels originating from stabilin-1 deficient mice remained negative for stabilin-1 specific antibody RS1. In human specimens, the RS1 antibody stained tumor-associated macrophages in all pathological stages of melanoma. In addition, five cases of juvenile xanthogranulomas and one case of necrobiotic xanthogranuloma were strongly stabilin-1 positive, while Th-1 cytokine dominated granulomatous diseases such as sarcoidosis and granulomatous leprosy were negative. Stabilin-1 positive vessels were found in all analysed non-Langerhans cell histiocytoses and melanocytic lesions. No stabilin-1 positive vessels were present in any other granulomatous diseases.     

Pharmacokinetics study of a novel chimeric single-chain variable fragment antibody against western equine encephalitis virus

A novel recombinant single-chain fragment variable (scFv) antibody against western equine encephalitis (WEE) virus has been previously constructed and partially characterized. The RS10B5huFc antibody was made by fusing an anti-WEE scFv to a human heavy-chain IgG1 constant region. The RS10B5huFc antibody was functional in binding to WEE virus in enzyme-linked immunosorbent assays (ELISAs), and the Fc domain of the antibody was capable of effector functions, such as binding to protein G and human complement. In this study, the RS10B5huFc antibody was further characterized by BIAcore analyses and was found to possess a binding affinity to a WEE virus epitope (K[D] = 9.14 x 10(-6) M), 4.5-fold lower than its parental mouse monoclonal antibody (MAb) 10B5 E7E2 (K[D] = 2 x 10(-6) M). No cross-reactivity was found between the RS10B5huFc antibody and three other alphaviruses (Sindbis virus [SIN], Venezuelan equine encephalitis [VEE] virus, and eastern equine encephalitis [EEE] virus). Pharmacokinetics studies showed that the RS10B5huFc antibody (free and encapsulated) was found to be retained in the lungs of mice for greater than 48 h when administered intranasally. In contrast, when administered intramuscularly to mice, the RS10B5huFc antibody was not detected in the lungs and only found in the liver and kidneys.     

Untersuchungen des retothelialen Systems mit Isotopen

Zusammenfassung Die histomorphologisch faßbare Phagocytose- und Speicherungsfähigkeit des Retothelialen Systems (RS) wurde zum Modell seiner Funktionsprüfung. Von einer Testsubstanz sind zur Bestimmung der Clearance, des Verteilungsmusters der Speicherung und der histologischen Veränderungen im RS zu fordern die Stabilität der in ihrer Molekülgröße bekannten, metabolisch weitgehend indifferenten kolloidalen Lösung, die Affinität zum RS, eine folgenlose reversible Speicherung und der quantitative sowie morphologische Nachweis. Um Grundlagen für die Beurteilung des funktionellen Verhaltens des RS zu gewinnen, wurde im Zeit-Reihen-Versuch am Kaninchen das Schicksal P³²-markierten K-Na-Polyphosphates verfolgt. Die extrarenale Blutclearance erfolgt nach einer Exponentialfunktion der Zeit; die Eliminationshalbwertzeit liegt im Mittel bei 36 min; mit dem Harn werden in den folgenden 10 Tagen ca. 20% der injizierten Aktivität ausgeschieden. Nach dem aktuellen Verteilungsmuster speichern Leber ca. 40%, Knochenmark ca. 36% der im Organismus verbleibenden Radioaktivität; aus der Speicherungsintensität ergibt sich die abnehmende Reihenfolge von Milz, Knochenmark, Leber. Beim Kaninchen macht die bedeutsame Speicherleistung des Knochenmarkes die Verwendung von Testsubstanzen mit relativ langer EHZ notwendig, um die Funktionsbereitschaft des gesamten RS im Rahmen der Funktionsprüfung zu erfassen; das Knochenmark zeigt offensichtlich im Zusammenhang mit der Hämopoese den intensivsten Umsatz. Die Variabilität des Speicherungsbildes ist nicht nur von äußeren Faktoren der Versuchsbedingung, wie Phagocytierbarkeit und Dosis, sondern vielmehr auch von inneren, in der Leistungsbereitschaft des RS begründeten, Faktoren abhängig. Bevorzugter Ort und Intensität der Speicherung wechseln zwar nach der Tierart, bleiben aber jeweils charakteristisch. Die formulierte Beziehung zwischen Eliminationshalbwertzeit und Phagocytoseindex gestattet einen weitgehend objektiven Vergleich des Verhaltens des RS unter variierten experimentellen Bedingungen.

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Summary The demonstrable storage in the Retothelial System (RS) has become a model test of its functions. A substance to be suitable for clearance tests, determination of the pattern of distribution and histological changes of the RS must yield stable, metabolically largely inert colloidal solutions of known molecular size; the storage must be reversible, also suitable for quantitative and morphological determination. In order to gain criteria for the evaluation of the functional behaviour of the RS the fate of P³²K-Na-polyphosphate was observed in rabbits in serial tests over some period of time. The extrarenal clearance shows in semi-logarithmic representation a straight line as an exponential function of time; excretion in the urine within ten days made up for 20 per cent. The actual pattern of distribution showed about 40 per cent to be present in liver and 36 per cent in bone marrow. The intensity of storage was found in the decreasing order spleen, bone marrow, liver. The turnover of P is obviously most intense in the bone marrow in connection with haemopoiesis. Preferred site and intensity of storage vary with different species; getting an equation this is the requisite supposition to make possible comparative investigations of the RS under varied conditions.

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Mit dankenswerter Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Hydroxypropylated distarch phosphate versus unmodified tapioca starch: fat oxidation and endurance in C57BL/6J mice

An RS4-type resistant starch is a chemically modified starch that shows reduced availability in comparison to the corresponding unmodified starch. Hydroxypropylated distarch phosphate (HDP) is an RS4-type resistant starch that increases energy expenditure and prevents high-fat diet-induced obesity through increased hepatic fatty acid oxidation. The aim of this study was to clarify the acute effects of HDP from tapioca starch (HPdTSP) on physical performance in mice. Male C57BL/6J mice were used to examine the effects of a single administration of 2 mg/g body weight HPdTSP or unmodified tapioca starch (TS) on postprandial responses in serum metabolic parameters, running endurance capacity on a treadmill, whole-body energy metabolism during exercise, activity of enzymes involved in fatty acid oxidation, liver and gastrocnemius muscle glycogen content, and serum glucose, insulin, non-esterified fatty acid, lactate, and triglyceride levels after exercise. Running time to fatigue was significantly greater in HPdTSP mice than in TS mice. Furthermore, HPdTSP maintained higher fat oxidation and this was associated with a greater activity of enzymes in fatty acid oxidation in the muscle during exercise. The blood lactate and serum insulin levels after exercise was significantly lower in HPdTSP mice than in TS mice. Liver glycogen was significantly higher in HPdTSP mice than in TS mice. These results suggest that acute oral administration of the RS4-type resistant starch, HPdTSP, maintained higher fat oxidation and reduced liver glycogen consumption during exercise and increased running endurance capacity in mice.     

Reducing respiratory motion artifacts in positron emission tomography through retrospective stacking

Respiratory motion artifacts in positron emission tomography (PET) imaging can alter lesion intensity profiles, and result in substantially reduced activity and contrast-to-noise ratios (CNRs). We propose a corrective algorithm, coined "retrospective stacking" (RS), to restore image quality without requiring additional scan time. Retrospective stacking uses b-spline deformable image registration to combine amplitude-binned PET data along the entire respiratory cycle into a single respiratory end point. We applied the method to a phantom model consisting of a small, hot vial oscillating within a warm background, as well as to 18FDG-PET images of a pancreatic and a liver patient. Comparisons were made using cross-section visualizations, activity profiles, and CNRs within the region of interest. Retrospective stacking was found to properly restore the lesion location and intensity profile in all cases. In addition, RS provided CNR improvements up to three-fold over gated images, and up to five-fold over ungated data. These phantom and patient studies demonstrate that RS can correct for lesion motion and deformation, while substantially improving tumor visibility and background noise.