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Genetic testing represents a major asset for discriminating between normal antigenic stimulation of B or T cells and malignant, pathological findings. The main difference between those two situations is the heterogenicity of lymphocyte populations as a result of diverse antigenic stimulation for the first situation, compared to single and identical population (clones) for the second situation. The present paper describes one of the many genetic assays capable of discriminating between normal and malignant, characterized by low time-to-result interval, accuracy, simplicity, and low cost comparing to other tests. [ABSTRACT FROM AUTHOR]

This paper reflects diagnostic criteria of mitochondrial diseases in children. It was noted that in children with multiple stroke - like episodes and neuroimaging changes, seizures, motor deficit, short stature, gastrointestinal, cardiac and ophthalmic disorders, laboratory testing should be initiated to recognize mitochondrial deficiency syndromes, particularly MELAS syndrome. The presence of red fibers in skeletal muscles and characteristic biochemical changes of mitochondrial defects support the diagnosis. Molecular genetic tests on mitochondrial DNA modifications will confirm the diagnosis. Genetic counseling should be given when there are mutations in mitochondrial DNA. [ABSTRACT FROM AUTHOR]

Objective. Prenatal testing holds a central role in pregnancy evaluation and monitoring. It unites different investigation methods to determine the best possible outcome and management of a case. This paper emphasises the importance of prenatal testing by presenting a case with multiple congenital anomalies. Method. We report a case diagnosed antenatally in the Imagistic Department of Obstetrics and Gynecology, ENDOGYN AM, and confirmed together with the University Prenatal Diagnosis Unit team. We used an extended fetal morphologic protocol. We correlated the antenatal data with the anatomopathological examination. Genetic tests were performed due to the possibility of genetic abnormalities. Results. The outcome of our case was unfavourable, due to the presence of multiple anomalies at the detailed morphological assessment. No genetic abnormality was found. The anatomopathological examination confirmed the antenatal fetal findings. Conclusions. Prenatal testing represents the most important pylon in pregnancy evaluation. Multiple tests should be performed for a correct case management. [ABSTRACT FROM AUTHOR]