MITOCHONDRIAL VITIATION CONGRUENTLY APTLY WITH AUTISM SPECTRUM DISORDER.

Mitochondrial dysfunction in autism leads to impair the mitochondria's ability to synthesis adenosine triphosphate (ATP) by impairment citric acid cycle as well as increase anaerobic glycolysis. Aim - measuring and evaluating the levels of mitochondrial markers; including glutamate oxaloacetate transaminase (GOT), glutamate pyruvate transaminase (GPT), malate dehydrogenase, and pyruvate kinase) in the autistic group and knowing the possibility of using these markers to diagnose children with autism spectrum disorder. A case-control study was done in the Al-Zahraa Teaching Hospital (Kut City, Iraq) on 100 Iraqi children (male and female), between (April 2023 and January 2024). Their ages ranged between 3 and 9 years. Among them were 50 patients enrolled as autistic group and 50 healthy enrolled as control group. Blood samples were collected and bioassays for GOT, GPT, pyruvate kinase, and malate dehydrogenase were measured by ELISA technique. The autistic group showed that the urine GOT, urine GPT, serum malate, and serum pyruvate levels in the ASD group was significantly higher (P<0.001) than the control group. The ROC analysis showed that urine GOT, urine GOT, serum malate and serum pyruvate had an accuracy level of (81%,71%,77%, and 80 %) and the area under the curve (AUC) was > 0.7 (0.8),0.7, 0.7(0.76), and 0.7(0.8) thus urine GOT, urine GPT, serum, malate, and serum pyruvate are a valid diagnostic marker. There was a significant difference in the mean urine and serum concentrations of mitochondrial markers (GOT, GPT, malate dehydrogenase, and pyruvate kinase) between autistic children and the control group due to mitochondrial dysfunction.

The Diagnostic and Prognostic Value of the Combination of Tumor M2-Pyruvate Kinase, Carcinoembryonic Antigen, and Cytokeratin 19 Fragment in Non-Small Cell Lung Cancer.

Objective: Finding biomarkers related to non-small cell lung cancer (NSCLC) is helpful for the diagnosis and precise treatment of lung cancer. The relationship between serum tumor M2-pyruvate kinase (TuM2-PK), carcinoembryonic antigen (CEA), and cytokeratin 19 fragment (CYFRA21-1) and NSCLC was analyzed. Methods: The serum levels of TuM2-PK, CEA, and CYFRA21-1 in 184 patients with the NSCLC group, 60 patients with the benign lung disease (BLD) group, and 90 healthy controls (HC) group were detected. The levels of TuM2-PK were measured by using an enzyme-linked immunosorbent assay. The detection methods of CEA and CYFRA21-1 were electrochemiluminescence. The receiver operating characteristic (ROC) curve was drawn to evaluate the diagnostic value of TuM2-PK, CEA, and CYFRA21-1 on NSCLC. The Kaplan-Meier survival curve was drawn to evaluate the survival status in NSCLC patients with different serum levels of TuM2-PK, CEA, and CYFRA21-1. Results: Serum levels of TuM2-PK, CEA, and CYFRA21-1 in the NSCLC group were significantly higher than those in the BLD group and the HC group (P < .01). Serum levels of TuM2-PK, CEA, and CYFRA21-1 in NSCLC patients were associated with the tumor lymph node metastasis stage (P < .05), lymph node metastasis (P < .05), and distant metastasis (P < .05). The ROC curve showed that the area under the curve of serum levels of TuM2-PK, CEA, and CYFRA21-1 was 0.814, 0.638, and 0.719, respectively, and that the combination of the above 3 was 0.918. The Kaplan-Meier survival curve showed that the 1-, 3- and 5-year survival rate in NSCLC patients with positive TuM2-PK, CEA, and CYFRA21-1 was significantly lower than that in NSCLC patients with negative TuM2-PK, CEA, and CYFRA21-1, respectively (P < .05). Conclusions: Serum TuM2-PK, CEA, and CYFRA21-1 levels have high clinical values in the diagnosis of NSCLC, and can effectively judge the prognosis of patients.

Detection of carriers of Duchene muscular dystrophy gene using logistic discriminating analysis: creatine-kinase and pyruvate-kinase

Foram determinadas as atividades da creatino-cinase (CK) e da piruvato-cinase (PK) em 160 amostras de soro: 87 de mulheres normais e 73 de 30 portadoras certas do gene para a distrofia muscular Duchenne (DMD), da faixa etária de 19-54 anos. Todas as determinaçöes de CK e PK foram realizadas em alíquotas da mesma amostra de soro. Foi usada análise discriminante logística para determinar a eficácia de cada enzima isoladamente ou das duas em combinacäo na identificaçäo de portadoras do gene da DMD. A uma amostra de soro, com um certo nível de CK ou de PK, isoladamente ou em combinaçäo, é atribuída uma probabilidade de que, se tomada oa caso de um "pool" de soros de mulheres normais e portadoras, provenha de uma portadora. A CK e a PK, cada uma isoladamente, mostraram eficiências de detecçäo de 73 e 37% respectivamente. Quando as duas enzimas foram usadas em combinaçäo a eficácia foi também de 73%, mostrando, assim, que o uso combinado da CK com a PK näo melhora a detecçäo quando comparado com o uso da CK isoladamente. Quando os dois testes aplicados a 28 mäes de casos isolados, 13 foram detectadas pela CK isoladamente e foram as mesmas 13 mulheres detectadas pela combinaçäo da CK com a PK. A PK isoladamente detectou 4 mäes de casos isolados, das quais duas apenas foram detectadas pelo uso combinado da CK com a PK

Serum creatine-kinase and pyruvate-kinase levels in females of different racial background at risk for Duchenne muscular dystrophy

As atividades séricas das enzimas creatino-cinase (CK) e piruvato-cinase (PK) foram determinadas em 146 mulheres beterozigotas certas quanto ao gene da distrofia muscular de Duchenne (DMD) e 187 mäes de casos isolados, pertencentes a dois grupos raciais: caucasóide e negroide. A atividade da CK foi medida em 206 mulheres caucasoides e 127 mulheres negroides e a da PK em 148 caucasoides e 92 negroides. Os resultados desta pesquisa mostraram um aumento da média de atividade enzimática no grupo de mulheres heterozigotes e mäes de casos isolados negroides em comparaçäo ao grupo de mulheres caucasoides. Entretanto, as diferenças foram estatísticamente significantes apenas para a CK sérica. Sugere-se portanto, que os resultados da atividade sérica da CK de mulheres em risco de serem portadoras do gene da DMD sejam comparados com os de mulheres normais de mesmo grupo racial

Enzymatic (PK, CK) levels and genetic counseling in Duchenne muscular dystrophy

Vinte e nove pacientes afetados por diferentes formas de distrofia muscular foram localizados e estudados clinicamente. Os 21 com o tipo Duchenne, tiveram, além disso, seus níveis de piruvato quinase (PK) e creatino quinase (CK) determinados. Sessenta e oito mulheres aparentadas a eles e controles normais foram investigados da mesma maneira. Entre os pacientes os níveis enzimáticos séricos mostraram um aumento da ordem de 15x(PK) e 112x(CK); e seis das oito heterozigotas obrigatórias foram discriminadas usando ambas as enzimas (enquanto a sua utilizaçäo isolada detectou cinco dentre elas). Coeficientes de correlaçäo entre os níveis de PK e CK foram geralmente altos (r:0,79-0,84) para pacientes e portadoras obrigatórias, declinado à medida que a probabilidade de ter o gene anormal também decrescia. O uso concomitante de ambas as enzimas combinado com o máximo de informaçäo disponível para cada genealogia possibilitou estimativas de riscos de heterozigose altos (acima de 80%) e abaixo de 20%) para 80% das mulheres aparentadas a pacientes que solicitaram aconselhamento genético