Classic and molecular cytogenetic findings in leukemia patients from the Western part of Romania.

Acute lymphoblastic leukemia (ALL) is the most common type of leukemia in childhood and rare in adults, while acute myeloid leukemia (AML) is less common in children and more common in older adults. The aim of the study was to present our experience for the diagnostic of leukemia by using the classic and molecular cytogenetic methods. The study was conducted between 2009 and 2019 within the Classic and Molecular Genetic Laboratory of the Oncohematology Department from the Louis Turcanu Emergency Hospital for Children, Timisoara, Romania. The study group included 337 children and adults, evaluated between 2009 and 2019. By using the conventional and molecular cytogenetic technique, the cytogenetic anomalies found were 35 numerical chromosomal abnormalities, 10 (9;22)(q34;q11) [four ALL, one AML, five chronic myeloid leukemia (CML)] translocations, nine (15;17)(q24;q21) translocations, three (14;14)(q11;q32) translocations, two (4;11)(q21;q23) translocations, one (1;14)(p32;q11) translocation, one (7;14)(qter;q11) translocation, one (8;21)(q22;q22) translocation, one (9;14)(p12;q32) translocation, seven rearrangements of the MLL gene and two rearrangements of the core-binding factor subunit beta∕myosin heavy chain 11 (CBFB∕MYH11) gene. The use of conventional and molecular cytogenetic analysis is one of the most important prognostic indicators in acute leukemia patients, allowing the identification of biologically distinct subtypes of disease and selection of appropriate treatment approaches.

Basic biochemical and hematological parameters in perinatal asphyxia and their correlation with hypoxic ischemic encephalopathy.

Perinatal hypoxic-ischemic encephalopathy (HIE) represents a major cause of neonatal death or long-term disability. Inflammation plays an important role in mediating brain damage induced by neonatal hypoxic-ischemic encephalopathy. The mechanisms underlying the inflammatory response in hypoxia and ischemia are complex and are still being extensively researched. The objective of this study was to determine the predictive value of peak lactate dehydrogenase (LDH), C-reactive protein (CRP), procalcitonin (PCT) and of the evolution of leukocytes, neutrophils and lymphocytes in the first 96 h after birth for the grade of encephalopathy and neurodevelopmental outcome in newborns with HIE. In order to reveal this relationship we used comparisons between the above mention parameters. The observed hematological changes were nonspecific. The vast majority of the 78 newborns included in the study had PCT values above normal in the first 24 h, contrasting with CRP values that were positive in only 15.8% of the patients. A total of 76.9% of the patients had LDH values higher than the upper limit of normal values. The mean LDH values in patients with an unfavorable prognosis were 1,235 U/l. We can conclude that LDH is a good predictor of HIE in the first 12/24 h after birth.

Atypical case of Sjögren's syndrome with psychiatric and peripheral neurological disorder.

Sjögren's syndrome is a rare disorder of the immune system characterized by the chronic lymphocytic infiltration of the organs with exocrine secretion (lachrymal, salivary glands), but also of other tissues of the body, that can be primary or secondary and can appear alone or in association with other systemic diseases: rheumatic arthritis, systemic erythematous lupus, scleroderma or polymyositis÷dermatomyositis. The case that we are presenting is that of a 40-year-old man, who came to the Department of Rheumatology with articular, muscular, ocular, psychological and neurological symptoms. After multiple biological, immunological, histological, neurological, psychiatric, ophthalmological, digestive investigations, it was reached the conclusion that the patient presents a rare autoimmune disease (primary Sjögren's syndrome) involving mainly peripheral neuromuscular and psychological (small frequency) and the patient was given specific immunomodulatory, anti-inflammatory and anti-depressive treatment, to which he responded well. Thus, after 18 months of investigation, severe depressive episodes and difficult collaboration of the patient with the medical team, it was possible to reach the definitive diagnosis and to perform the appropriate treatment.