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1.
Congenital Cytomegalovirus (CMV) infection and alpha 1-antitrypsin (A1AT) deficiency are separately well described entities, but their simultaneous occurrence can pose a special challenge to a clinician, especially dealing with optimal diagnostic as well as therapeutic approach. Congenital CMV infection is the most common vertically transmitted infection in developed countries. In 85–95% of newborns it runs asymptomatic, while in others it is presented with jaundice, petechias, hepatosplenomegaly and central nervous system damage. A1AT deficiency is on the other hand, the most common genetic liver disease in children, and the clinical spectrum varies from the accidentally detected increased levels of transaminases through to the severe infant cholestasis that can progress to cirrhosis. The following case report describes a two-month old male with severe clinical presentation of congenital CMV infection probably exacerbated due to A1AT deficiency comorbidity. The clinical manifestations and unusually difficult clinical signs this infant presented lead to assumption that the additional liver damage exists. Extensive laboratory analyses were performed, including PCR for CMV DNA, A1AT serum concentration, A1AT genotyping, followed and confirmed with phenotyping. Patient was treated parenteral with ganciclovir, what continued with oral valganciclovir and supportive therapy. Intensive and thorough supportive treatment of the infant resulted in satisfactory progress and excellent outcome. Patient was followed-up till the age of 18 months. The presented case provides excellent example about successful overcoming obstacles in differential diagnosis of A1AT in neonates and infants. Medical charts analysis was the methodology used in making this report.  相似文献   

2.

Introduction:

Alpha-1-antitrypsin deficiency (AATD), genetic risk factor for premature chronic obstructive pulmonary disease (COPD), often remains undetected. The aim of our study was to analyse the effectiveness of an integrative laboratory algorithm for AATD detection in patients diagnosed with COPD by the age of 45 years, in comparison with the screening approach based on AAT concentration measurement alone.

Subjects and methods:

50 unrelated patients (28 males/22 females, age 52 (24–75 years) diagnosed with COPD before the age of 45 years were enrolled. Immunonephelometric assay for alpha-1-antitrypsin (AAT) and PCR-reverse hybridization for Z and S allele were first-line, and isoelectric focusing and DNA sequencing (ABI Prism BigDye) were reflex tests.

Results:

AATD associated genotypes were detected in 7 patients (5 ZZ, 1 ZMmalton, 1 ZQ0amersfoort), 10 were heterozygous carriers (8 MZ and 2 MS genotypes) and 33 were without AATD (MM genotype). Carriers and patients without AATD had comparable AAT concentrations (P = 0.125). In majority of participants (48) first line tests were sufficient to analyze AATD presence. In two remaining cases reflex tests identified rare alleles, Mmalton and Q0amersfoort, the later one being reported for the first time in Serbian population. Detection rate did not differ between algorithm and screening both for AATD (P = 0.500) and carriers (P = 0.063).

Conclusion:

There is a high prevalence of AATD affected subjects and carriers in a group of patients with premature COPD. The use of integrative laboratory algorithm does not improve the effectiveness of AATD detection in comparison with the screening based on AAT concentration alone.  相似文献   

3.
Serum alpha-1-antitrypsin assay was carried out in 21 smokers (mean age 44±8 yrs) and in 25 nonsmokers (mean age 44±7 yrs). The levels of serum alpha-1-antitrypsin expressed in umol/mt/ml were 2.97±0.85 for smokers and 3.08±0.37 for non-smokers and analysis of variance revealed no significant difference between these two groups. However in five smokers reduced levels (<80% of the lower limit of non-smokers) were seen and four of them were bus drivers. This study advises monitoring of serum alpha-1-antitrypsin levels in smokers with possible therapy to those with reduced levels.  相似文献   

4.
The present study was undertaken to evaluate the levels of serum lipid peroxide, nitric oxide end poducts, erythrocytic superoxide dismutase activity and serum α 1-antitrypsin in smokers. Total 90 active cigarette smokers were subdivided into Group I (subjects with smoking habit of less than 10 cigarettes per day) and Group II (with smoking habit of more than 10 cigarettes per day). In both groups lipid peroxide and nitric oxide end products were significantly increased with significantly decrease in erythrocytic superoxide dismutase activity and serum α 1-antitrypsin as compared to controls. Our findings show enhanced oxidative stress and reduced α 1-antitrypsin in cigarette smokers. Further increase in number of cigarettes per day exacerbates the oxidative stress with decrease in α 1-antitrypsin.  相似文献   

5.
It is important that clinicians and laboratorians, including clinical chemists and pathologists, recognize and understand the clinical significance of abnormal liver function tests. The liver regulates many important metabolic functions. Hepatic injury is associated with distortion of these metabolic functions. Hepatic disease can be evaluated and diagnosed by determining serum concentrations of a number of serum analytes. Many serum analytes exist to assist in the biochemical diagnosis of liver disease. The focus of this paper is on the analytes which are associated with hepatic necrosis, cholestasis, defects in excretion and end stage hepatic disease which results in decreased synthetic function. The abnormalities of these serum analytes will be correlated with the important types of liver disease.  相似文献   

6.
慢性乙肝病毒携带状态多无临床症状,中医古代无此病名,多归属于中医"黄疸""胁痛""积聚"等范畴。《内经》有云"正气存内,邪不可干""邪之所凑,其气必虚"。脾肾亏虚、邪伏内郁为慢性乙肝病毒携带状态的主要病机。《金匮要略》指出"见肝之病,知肝传脾,当先实脾",提出治肝补脾,防止传变的原则。慢性乙肝病毒携带者治疗上宜采用补肾健脾法。  相似文献   

7.
目的:观察逍遥散加减治疗肝着肝郁脾虚证的临床疗效。方法:将80例肝着肝郁脾虚证患者随机分为两组,其中对照组40例,治疗组40例。对照组予西医护肝治疗,治疗组在西医护肝治疗基础上加用逍遥散治疗,观察比较两组临床疗效。结果:两组患者临床症状及中医证候积分均得到有效改善,治疗组临床疗效总有效率为87.50%,高于对照组67.50%(P0.05),两组中医证候积分对照组9.03±3.95,治疗组3.84±2.67,治疗组明显优于对照组(P0.05)。结论:逍遥散具有疏肝解郁、健脾和中的功效,对肝着肝郁脾虚证患者的临床症状改善有确切的疗效,并具有安全、方便及毒副作用低等特点。  相似文献   

8.
Mucopolysaccharidosis are a group of rare metabolic disorders of the lysosomal storage disease family caused by the absence or malfunctioning of lysosomal enzymes responsible for their breakdown. It encompasses disorders in which undegraded or partly degraded glycosaminoglycans accumulate in the lysosomes of many tissues owing to a deficiency of specific lysosomal enzymes. Here we report a case of a 7 years old child displaying the symptoms of Morquio’s disease (Mucopolysaccharidosis type IV). Urine screening tests were performed which gave contrasting results.  相似文献   

9.
运用医学的黑箱理论探讨了中医诊断与植物缺素症诊断的相似性,分析了中医诊断以及植物缺素症诊断目前面临的问题,并提出相关建议：中医诊断与植物缺素症诊断应与仪器分析有机结合起来,使中医四诊实现仪器化、客观化和规范化,使植物缺素症诊断更加科学化,以适应现代社会的需要。  相似文献   

10.
Paraoxonase is an anti-oxidant enzyme, which circulates in the plasma, tightly bound to HDL. This enzyme is known to be synthesized in the liver. This study was carried out in order to ascertain the diagnostic utility of this enzyme in acute liver disease. Serum basal as well as salt (NaCl) stimulated paraoxonase was estimated in 50 patients with an established diagnosis of acute liver disease and also in 50 healthy blood donors. Paraoxonase levels were significantly lower in patients as compared with controls (P < 0.05). The ‘receiver operating characteristic’ plot showed that this enzyme has a high degree of sensitivity and specificity for the diagnosis acute liver disease. Serum PON is likely to emerge as an additional test of liver function, as it encompasses three different attributes of hepatic function namely, synthetic capacity, detoxication and secretory functions.  相似文献   

11.
目的:对独活寄生汤联合来氟米特片治疗类风湿关节炎的临床疗效进行观察。方法:对独活寄生汤联合来氟米特片治疗类风湿关节炎(肝肾亏虚型)的临床疗效进行回顾性分析;应用随机数字表把纳入的120例患者随机分为治疗组和对照组,两组各60例,对照组给予来氟米特片治疗;治疗组予以独活寄生汤联合来氟米特片治疗,1疗程为6个月,分别于治疗前、治疗1个月、2个月、3个月对患者进行DAS-28评分并采用HAQ健康评估问卷进行生存质量评估。结果:治疗组总有效率、显效率分别为88.33%和80%;对照组总有效率、显效率分别为73.33%和61.61%。总有效率、显效率治疗组均显著优于对照组。两组患者HAQ评分、DAS-28评分在治疗1个月均有所改善,病情得到控制;两组患者HAQ评分、DAS-28评分在2个月后仍继续减少,病情初步缓解,较本组治疗前有显著性差异(P0.05),组间相比仍无显著性差异(P0.05);两组患者在治疗结束时HAQ评分、DAS-28评分明显减少,病情完全控制,较本组治疗前及治疗1个月有显著性差异(P0.05),组间相比均有显著性差异(P0.05)。结论:独活寄生汤联合来氟米特片可有效改善肝肾亏虚型型类风湿关节炎患者的临床症状及实验室指标,且无明显不良反应,提高生存质量,取得了满意效果。  相似文献   

12.
Ethanol-induced liver injury may be linked, at least partly, to an oxidative stress resulting from increased free radical production and/or decreased antioxidant defence. Distinguishing alcoholic and non-alcoholic liver disease has important implications. This study looked at the possible changes between alcoholic and non-alcoholic liver diseases by examining the presence of oxidative damage, as monitored by several parameters relating to oxidative stress. Lipid peroxides concentration, superoxide dismutase activity and glutathione S-transferase activity increased, where as glutathione content, glutathione peroxidase activity and glutathione reductase activity decreased among the tested subjects in comparison to normal healthy group. Determination of these parameters may be valuable in the evaluation of liver disease. However, oxidative stress related enzymes and non-enzymes can not be utilized as a marker for alcoholic liver diseases, as these parameters responded in the same way after liver is damaged irrespective of their cause. Their level may help in determining the degree of liver damage. Degree of oxidative injury was similar in patients with non-alcoholic liver disease and in moderate drinkers; while significantly higher in heavy drinkers. The differences between the groups might be based on the type of liver pathological condition rather than its etiology (i.e. alcohol and non alcohol related causes).  相似文献   

13.
Alcohol appears to affect brain function, primarily by interfering with the action of gamma-aminobutyric acid (GABA) and other neurotransmitters. As alcohol is mainly metabolized in the liver, therefore we undertook this pilot study to monitor the patterns of changes in plasma amino-acid concentrations due to alcoholic and nonalcohol fatty liver disease and their relation with plasma GABA level. Plasma amino-acid concentrations were measured in 25 alcoholic liver disease (ALD) patients, 18 non-alcoholic fatty liver disease (NAFLD) patients, and 24 age and sex matched control subjects by HPLC. GABA concentration was elevated, while isoleucine and leucine levels reduced significantly in ALD patients compared to the control subjects. Methionine and phenylalanine levels elevated and valine content reduced significantly in ALD patients compared to other two groups, and GABA level was significantly correlated with methionine and phenylalanine. Plasma concentration of lysine was significantly reduced in both groups of liver disease patients compared to the control group, but was not correlated with GABA level. Glycine and tyrosine levels reduced significantly in NAFLD patients compared to other two groups and were significantly correlated with GABA. Interestingly, though amino acids such as alanine, histidine, proline and serine were not affected by liver diseases, but were significantly correlated with GABA level. This pilot study indicated that alcoholic liver disease presented a more deranged plasma amino acid pattern than nonalcoholic, and the amino acid imbalances. More studies are necessary to identify the role of any particular amino acid on brain function and on neurotransmitter(s).  相似文献   

14.
Viral infection with hepatitis C virus (HCV) has a high propensity in becoming chronic and it is the major cause of hepatocellular carcinoma (HCC) worldwide. This review was basically established to illustrate the putative role of the P53 gene Arg72Pro polymorphism on various cancer models and viral infections, focusing on HCV and HCC incidences. Authors studied the 72 G/C single base substitution of P53 gene at codon 72 using various polymorphic techniques. Intriguingly, authors investigated that the P53 codon 72 plays a crucial role as risk factor in several cancer models. Others found that there is no association between codon 72 genotypes and HCV disease severity or liver cancer. Moreover, the lack of a significant relationship between this polymorphism and risk of HCC shows that it does not predispose towards hepatocarcinogenesis and the frequent loss of the proline allele in HCV-associated carcinogenesis of the liver plays some critical role in hepatocarcinogenesis. Amazingly, there is a significant correlation between male homozygotes for P53 72Pro with HCV type 1b infection. However, there was no significant difference between the P53 polymorphism and HCV genotypes 2a and 2b. It was concluded that the P53 gene polymorphism at codon 72 has been investigated as potential risk factor in several cancer models and HCV infections.  相似文献   

15.
Arthritis is an inflammatory disease of joints. Exact etiology of the disease is not understood yet; but histopathological examination of vital organs like liver, kidney, ovary and knee joint can anticipate immune mediated damage. In this study, Lactobacillus acidophilus was administered orally by both prophylactic and curative protocol in freund’s complete adjuvant induced arthritic rats. Indomethacin was used as standard anti-arthritic drug. Histopathology of liver, kidney, ovary and right hind knee joint were done. Cytokine concentrations were determined by using ELISA. Effects shown by L. acidophilus were comparable with indomethacin. Histopathological analysis of liver, kidney, ovaries and knee joints of L. acidophilus fed groups revealed significantly less damage as compared with other counterparts. Lactobacillus treatment has down-regulated pro-inflammatory level and up-regulated anti-inflammatory cytokines level in serum samples. L. acidophilus managed organs damage associated with arthritis. It has significantly down regulated the pro-inflammatory cytokines.  相似文献   

16.
Hepcidin is a 25-amino acid peptide hormone produced by hepatocytes and plays a key role in body iron metabolism. Hepcidin deficiency is the cause of iron overload in hereditary hemochromatosis, iron-loading anemia, and its excess is associated with anemia of inflammation, chronic disease and iron deficiency anemia (IDA). The aims of this study was to evaluate HAMP gene mutation, namely IVS2 + 1(–G) (c.148–150 + 1del) and Gly71 Asp (c.212G > A (rs104894696) association with iron status in IDA conditions. Our study participants were 500 IDA patients and 550 age and sex-matched healthy controls. Hepcidin, ferritin and CRP analysis was done by ELISA method while ESR analysis was done according to Wintrobe method. CBC analysis was done by auto-analyzer. Two mutations in the HAMP genes were analysed by PCR RFLP method. Among the IDA patients, 7 were heterozygous for Met50del IVS2 + 1(–G) mutation. Nine IDA patients were heterozygous for G71D G–A mutation and homozygous were not identified in both mutations.Controls were showing heterozygous frequency 1.8 and 2.1% of Met50del IVS2 + 1(–G) and G71D G–A mutations respectively. Mutation of HAMP (Met50del IVS2 + 1(–G) and G71D G–A) were clinically associated with IDA and act as modulator of disease.  相似文献   

17.
膳食硒资源及其开发研究   总被引：14，自引：0，他引：14  
硒是人体必要的生命元素,人体缺硒会造成许多重要器官的机能推敲,导致多种疾病的发生。现代医学证实,硒具的抗癌、防治心血管病、防治克山病、抗衰老、增强机体免疫功能等重要生理作用。我国72%地区处于缺硒、低硒带,膳食中硒摄入量的不足严重影响着我国几亿人口的身体健康,因此,开发富硒食品已成为一个重要课题。本文还介绍了膳食硒的存在膳食硒资源的开发利用进行了较全面的论述。  相似文献   

18.
低钾胁迫对不同基因型杂交水稻氮代谢的影响   总被引：5，自引：0，他引：5  
沈伟其 《科技通报》1999,15(5):382-386
通过在低钾胁迫下对杂交水稻耐低钾基因型威优３５及不耐低钾基因型汕优６号的比较研究,表明低钾胁迫会显著增加不耐低钾基因型植株地上部分的氮含量和叶片总游离氨基本酸含量,降低籽粒粗蛋白含量,显著影响叶片脯氨酸含量的变化;而对耐低钾基因型的影响较小。低钾胁迫还引起两基因型其它主要游离氨基酸的不同变化,籽粒产量也有明显差异,说明耐低钾基因型水稻在氮代谢方面具有特异性。  相似文献   

19.
The attempt is made to produce recombinant factor VIII but the first step in producing such product is production and purification of rabbit’s polyclonal antibody against factor VIII. The second and third steps involve monoclonal antibody and recombinant factor VIII production. Factor VIII is one of the most important coagulating factor where its deficiency leads to diseases like hemophilia type A or classic. It is an inherited disease. Previously, it was obtained through fractionation of blood plasma of blood donors. After processing, factor VIII could be used to manage such patients. Due to transfer of viral disease like hepatitis and HIV through factor VIII obtained by fractionation, high cost of production, insufficiency of the donors and the process of virus removal, thus production of factor VIII through recombinant technology can be useful and helpful. The reaction between antibody and antigen is one the most specific reaction; therefore, such reaction can be employed to identify factor VIII. Thereby, rabbits were injected several times with adjuvant-linked antigen to produce antibody. The antibody was separated from the blood sample, purified and used to identify factor VIII in the research.  相似文献   

20.
Metachromatic leukodystrophy is a lysosomal disease caused mainly by a deficiency of the enzyme arylsulfatase A. The assay of arylsulfatase A in the serum provides a fast and easy method for the confirmatory diagnosis of this disorder. Serum arylsulfatase A was estimated in 52 normal healthy control subjects and 269 patients with symptoms of cerebral white matter disease in order to diagnose and confirm metachromatic leukodystrophy. A total of eight cases of metachromatic leukodystrophy with a low serum arylsulfatase A was detected, of which three cases were of the late-infantile type, four cases the juvenile type and only one case the adult type.  相似文献   

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