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1.
A 3 month old male child was brought to the hospital with complaints of skin rashes, developmental delay, seizures, seborrheic dermatitis, alopecia and mild, acidosis. The child was subjected to a simple metabolic screening protocol. The result of the screening and the clinical symptoms provided an index pointing towards biotinidase deficiency., a rare autosomal recessive, inherited metabolic disorder. The enzyme was then assayed by using n-biotinylp-aminobenzoate as substrate and the diagnosis confirmed. A follow-up of the case indicated the efficacy, of biotin supplementation in biotinidase deficiency.  相似文献   

2.
The mucopolysaccharidoses (MPSs) are a heterogeneous group of rare inherited disorders caused by deficiency of lysosomal enzyme necessary to break down mucopolysaccharides or glycosaminoglycans (GAGs). We had combined clinical findings and ophthalmological features. Biochemical test for urine glycosaminoglycans was done for confirmation of diagnosis in the patient. The case of Sanfillippo’s disease was characterized by delayed development, hyperactivity with aggressive behaviour. Coarse facial feature, hirsutism and sleep disorder. Urine GAG tests for MPS was positive in the case. Based on clinical findings and biochemical tests for MPS, this case was diagnosed as a type III mucopolysaccharidoses. Urinary GAG’s electrophoresis is an important screening test for MPS suspected cases.  相似文献   

3.
Maple Syrup Urine Disease is an autosomal recessive disorder caused by a deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. This rare disorder represents one of the causes of acute neonatal illness which results in devastating disturbances of neurological development. On investigation of 1750 infants with neurological impairment for inborn errors of amino acid metabolism, 4 neonates with classical maple syrup urine disease were detected. These otherwise normal neonates presented in the first week after birth with seizures, lethargy and refusal of feeds, hypoglycemia and metabolic acidosis. The plasma and urine concentrations of the branched-chain amino acids were increased and there was ketoaciduria. Two of these neonates expired before specific treatment could be instituted. Routine biochemical screening of neonates with acute illness could unearth many cases of this rare inherited metabolic disease.  相似文献   

4.
This paper reports an innovative technique for reagents storage in microfluidic devices by means of a one-step UV-photoprintable ionogel-based microarray on non-modified polymeric substrates. Although the ionogel and the ink-jet printing technology are well published, this is the first study where both are used for long-term reagent storage in lab-on-a-chip devices. This technology for reagent storage is perfectly compatible with mass production fabrication processes since pre-treatment of the device substrate is not necessary and inkjet printing allows for an efficient reagent deposition process. The functionality of this microarray is demonstrated by testing the release of biotin-647 after being stored for 1 month at room temperature. Analysis of the fluorescence of the ionogel-based microarray that contains biotin-647 demonstrated that 90% of the biotin-647 present was released from the ionogel-based microarray after pumping PBS 0.1% Tween at 37 °C. Moreover, the activity of biotin-647 after being released from the ionogel-based microarray was investigated trough the binding capability of this biotin to a microcontact printed chip surface with avidin. These findings pave the way for a novel, one-step, cheap and mass production on-chip reagents storage method applicable to other reagents such as antibodies and proteins and enzymes.  相似文献   

5.

Background

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals.

Subject and methods

A Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory pauses with brief generalized seizures. Afterwards the failure to thrive and developmental delay were present. Organic acids analysis with gas chromatography-mass spectrometry (GS/MS) in urine and acylcarnitines analysis with liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spot were measured. Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. Sequence analysis of all exons and flanking intron sequences of ACADS gene was performed.

Results

Organic acids analysis revealed increased concentration of ethylmalonic acid. Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range (<0.68 µmol/L). Confirmation analysis for organic acids and acylcarnitine profile was performed on the second independent sample and showed the same pattern of increased metabolites. Sequence analysis revealed 3-bp deletion at position 310-312 in homozygous state (c.310_312delGAG). Mutation was previously described as pathogenic in heterozygous state, while it is in homozygous state in our patient.

Conclusions

In our case clinical features of a patient, biochemical parameters and genetic data were consistent and showed definitely SCAD deficiency.Key words: SCAD deficiency, short chain acyl-CoA dehydrogenase deficiency, screening, acylcarnitine, polymorphism, genetic  相似文献   

6.
Stroke in children is a heterogeneous disorder. Over 100 risk factors for stroke have been reported and genetic predisposition to stroke has been established. The most frequently reported risk factors are congenital heart malformations, hemolytic anemias, collagen vascular diseases, some rare inborn metabolic disorders, trauma, infection and thrombophilia. The aim of this article is to provide an overview of investigated inherited prothrombotic risk factors in children with first ischemic stroke. Various prothrombotic risk factors have been investigated in pediatric stroke including elevated homocysteine and lipoprotein (a), antithrombin, protein C and protein S deficiency, Factor V Leiden, Factor II G20210A and plasminogen activator inhibitor-1 4G/5G polymorphism. Despite similar criteria for inclusion of different studies in meta-analyses investigating first ischemic stroke in children, the obtained results were not consistent for all prothrombotic risk factors. The discrepancies found could be explained by methodological issues like different sample sizes, patient populations included and lack of controls. In order to provide the necessary power for randomized control trials, multi-center, multi-national approaches like International Pediatric Stroke Study have been initiated with the aim to describe risk factors for childhood stroke and explore their relationship with presentation, age, geography, and infarct characteristics. Although it is evident from numerous studies that the frequency of inherited prothrombotic factors is increased in pediatric stroke, single thrombophilia does not fully explain stroke in a child as it represents only a mild risk factor. Further studies are needed, as improved understanding of underlying mechanisms will improve primary and secondary prevention of childhood stroke.  相似文献   

7.
Normal iron levels are required to prevent thrombocytosis by inhibiting thrombopoiesis. Thrombocytosis is usually associated with a mild iron deficiency and is the result of a lack of inhibition of thrombopoiesis. Study participants were 430 iron deficiency anemia (IDA) patients. Ten (10) mL of venous blood were collected for the subjects. Ferritin analysis was done by ELISA method while Hemogram analysis was done by auto-analyzer. Factor V Leiden, PRTG20210A, and MTHFR C677T genotype analysis was performed by PCR–RFLP method. Among the patients, 9 were heterozygous (G>A) and 2 were homozygous (A>A) carrier of FV Leiden; while 20 were heterozygous (C>T) and 3 were homozygous (T>T) for MTHFR polymorphism. None of the patient was identified with PT mutation. Patients with thrombosis gene marker had lower hemoglobin, mean corpuscular volume, mean corpuscular haemoglobin levels, and mean corpuscular hemoglobin concentration than patients without thrombosis gene marker. Serum ferritin was elevated in subject with the absence of thrombosis gene markers. Our data suggest a high impact of inherited hypercoagulability risk factors in the pathogenesis of IDA and its complications.  相似文献   

8.
Alpha-1-antitrypsin deficiency is a hereditary disease leading to hepatitis and cirrhosis. It is the most common genetic cause of liver disease in children which must inherit the tendency from both parents to develop. It acquires the highest priority in the differential diagnosis in a child with chronic liver disease. In this case report we substantiate the role of serum protein electrophoresis, in diagnosing alpha-1-antitrypsin deficiency.  相似文献   

9.
Urinary iodine levels in children (5–11 years) and in adult males and females (15–44 years) of three ecological zones (hilly, flood-prone and plains) of Bangladesh were analyzed to determine the status of biochemical iodine deficiency in the country. Data indicated that a large majority of the population all over Bangladesh have biochemical iodine deficiency urinary iodine excretion (UIE) less than the accepted cut-off level of 10 μg/dl. Adults were deficient to comparable degrees, 31.3% severely iodine deficient. The flood-prone zone was less affected: 71.7% children had iodine deficiency and 25% were severely deficient. Adults of this zone were less affected than the children. Iodine deficiency was least severe in the plain zone: 59.8% children were biochemically iodine deficient and of them 23.4% had UIE less than 2.0 μg/dl. In the case of the adults of this zone, 60.8% were biochemically iodine deficient and 20.6% had severe iodine deficiency. The results indicate that Bangladesh as a whole is an iodine deficient region, with the hilly zone being the most severely affected. Children were slightly more affected than the adults, and females were more affected than the males.  相似文献   

10.
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   

11.
It is well known that a fractional-order system with a continuous right hand side does not have finite-time stable equilibria, but the discontinuous case has remained elusive in literature. Thus, based on novel mathematical tools, recently published in literature, it is demonstrated that attaining finite-time stable equilibria is not possible for a fractional-order system, not even in the case of an impulsive or discontinuous feedback. In consequence, it is demonstrated that, for a fractional-order system, a Lyapunov stable equilibrium cannot be at the same time finite-time stable.  相似文献   

12.
基于词链的自动分词方法   总被引：4，自引：1，他引：3  
An algorithm for automatic segmentation of Chinese word,which is an improved version of the minimum matching algorithm,is put forward.The key idea of the algorithm is to optimize the word bank and the matching process to enhance the speed and accuracy of word segmentation.By integrating the case bank for processing ambiguous word chain with relevant segmentation rules,the correctness of word segmentation is enhanced,which partly makes up the deficiency in processing natural language.  相似文献   

13.
A class of networked nonlinear control systems with norm-bounded uncertainties is presented in this paper. The class is represented by Takagi–Sugeno (T-S) fuzzy models with packet processing. The network loop delay is considered either as known delay or random delay. For the former case, we develop conditions that guarantee the robust asymptotic stability and state-feedback stabilization with strict dissipativity and cast the results in linear matrix inequality (LMI) framework. Next employing a probabilistic-based delay partitioning method to deal with random delay, we establish novel LMI criteria for strict dissipative stability analysis and feedback synthesis. The efficacy of the ensuing techniques is demonstrated by numerical solution of typical examples and Mont Carlo simulation.  相似文献   

14.
This paper presents the application of a fuzzy cognitive map (FCM) based theoretical framework and its associated modeling and simulation tool to strategy maps (SMs). Existing limitations of SMs are presented in a literature survey. The need for scenario based SMs with inherited ability to change scenarios dynamically as well as the missing element of time are highlighted and discussed upon. FCMs are presented as an alternative to overcome these shortfalls with the introduction of fuzziness in their weights and the robust calculation mechanism. An FCM tool is presented that allows simulation of SMs as well as interconnection of nodes (performance measures) in different SMs which enables the creation of SM hierarchies. An augmented FCM calculation mechanism that allows this type of interlinking is also presented. The resulting methodology and tool are applied to two Banks and the results of these case studies are presented.  相似文献   

15.
Short-chain acyl-CoA dehydrogenase (ACAD) deficiency is an extremely rare inherited mitochondrial disorder of fat metabolism. This belongs to a group of diseases known as fatty acid oxidation disorders. Screening programmes have provided evidence that all the fatty acid oxidation disorders combined are among the most common inborn errors of metabolism. Mitochondrial beta oxidation of fatty acids is an essential energy producing pathway. It is a particularly important pathway during prolonged periods of starvation and during periods of reduced caloric intake due to gastrointestinal illness or increased energy expenditure during febrile illness. The most common presentation is an acute episode of life threatening coma and hypoglycemia induced by a period of fasting due to defective hepatic ketogenesis. Here, the case of a 4 month old female patient who had seizures since the third day of her birth and persistent hypoglycemia is described. She was born to parents of second degree consanguinity after 10 years of infertility treatment. There was history of delayed cry after birth. Metabolic screening for TSH, galactosemia, 17-OHP, G6PD, cystic fibrosis, biotinidase were normal. Tandem mass spectrometric (TMS) screening for blood amino acids, organic acids, fatty acids showed elevated butyryl carnitine (C4) as 3.40 μmol/L (normal <2.00 μmol/L), hexanoyl carnitine (C6) as 0.92 μmol/L (normal <0.72 μmol/L), C4/C3 as 2.93 μmol/L (normal <1.18 μmol/L). The child was started immediately on carnitor syrup (carnitine) 1/2 ml twice daily. Limitation of fasting stress and dietary fat was advised. Baby responded well by gaining weight and seizures were controlled. Until now, less than 25 patients have been reported worldwide. The limited number of patients diagnosed until now is due to the rarity of the disorder resulting in under diagnosis.  相似文献   

16.
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   

17.
我国企业战略管理问题的对策与分析   总被引：6，自引：0，他引：6  
对我国企业战略管理问题进行了系统分析，找出了当前企业存在的主要问题是缺乏战略意识，特别体现在战略管理、战略制定、战略实施和战略评价的具体实施中。最后提出了解决我国企业战略管理的新思路，并以个案分析的形式给出了改进我国企业战略管理的建议及对策。  相似文献   

18.
A high circulating concentration of the non proteinogenic amino acid homocysteine has been implicated as a risk factor for Alzheimer’s Disease and its prodromal stage, mild cognitive impairement. Furthermore, hyperhomocysteinaemia has been directly attributed to a deficiency in vitamins B12, folate, and B6. Several studies have demonstrated decrease in progression of mild cognitive impairement to Alzheimer’s Disease, and some have even shown an improvement in cognition after vitamin supplements with B12 and folate. Plausible mechanisms linking hyperhomocysteinaemia to Alzheimer’s and cognitive impairement have been hypothesized and demonstrated in hyperhomocysteinemic mice models. However, some studies have not elucidated any benefit of vitamin supplements in subjects with cognitive impairment. Hence, multicentric clinical studies need to be conducted to substantiate the mechanisms of neuronal degeneration due to hyperhomocysteinaemia and to demonstrate the beneficial effect of folate, B6 and B12 supplements on cognition.  相似文献   

19.
从微软案中的经济学问题看网络经济的新特征   总被引：2，自引：0，他引：2  
李明志 《软科学》2001,15(1):44-46
同传统工业经济相比较，网络经济有很多新的特征，这也对传统经济学理论提出了挑战。在旷日持久的美国政府微软垄断一案中，这些问题得到了具体的体现。本文探讨了该案中涉及到的一些经济学问题，并力图探讨传统经济学理论解释网络经济现象的能力和不足之处。  相似文献   

20.
本文考察了不同类型的国际知识积累对创业投资公司国际化的影响。本文将知识积累的类型划分为三类：由以往投资活动总结的经验性知识、通过管理团队承袭的继承性知识以及借助合作伙伴获得的外部性知识。本文采集了110家创业投资公司的数据来验证假设,研究表明经验性和继承性知识对国际化有正向的影响,但是外部性知识的影响是有限的。总之,实证结果强调了经验性和继承性知识在创业投资公司国际化进程中克服信息不对称问题起到的重要作用。  相似文献   

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