Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.

Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are associated with severe cognitive, behavioral, and developmental impairments. Genetic DEEs have heterogeneous etiologies. This study includes 36 Romanian patients referred to the Regional Centre for Medical Genetics Dolj for genetic testing between 2017 and 2020. The patients had been admitted to and clinically evaluated at Doctor Victor Gomoiu Children's Hospital and Prof. Dr. Alexandru Obregia Psychiatry Hospital in Bucharest. Panel testing was performed using the Illumina® TruSight™ One "clinical exome" (4811 genes), and the analysis focused on the known genes reported in DEEs and clinical concordance. The overall diagnostic rate was 25% (9/36 cases). Seven cases were diagnosed with Dravet syndrome (likely pathogenic/pathogenic variants in SCN1A) and two with Genetic Epilepsy with Febrile Seizures Plus (SCN1B). For the diagnosed patients, seizure onset was <1 year, and the seizure type was generalized tonic-clonic. Four additional plausible variants of unknown significance in SCN2A, SCN9A, and SLC2A1 correlated with the reported phenotype. Overall, we are reporting seven novel variants. Comprehensive clinical phenotyping is crucial for variant interpretation. Genetic assessment of patients with severe early-onset DEE can be a powerful diagnostic tool for clinicians, with implications for the management and counseling of the patients and their families.

The clinical-morphological profile of tuberculous pleurisies - our experience in relation to literature data.

AIM: The authors made a morphological evaluation of pleural tissue fragments from patients hospitalized in Thoracic Surgery Department of the Emergency County Hospital of Craiova, Romania, over a period of 26 years, diagnosed with tuberculous lesions in the Pathology Department of the same Hospital. PATIENTS, MATERIALS AND METHODS: The studied material consisted of pleural tissue samples taken by biopsy or surgical excision from 39 cases coming out of 841 patients investigated in the above-mentioned period of time and diagnosed from histological point of view with tuberculosis (TB). Granuloma cell population was assessed using immunohistochemical method. For diagnostic confirmation, Ziehl-Neelsen staining has been used as a rule but, in some cases, immunohistochemistry was also used. RESULTS: TB lesions predominated in men usually around or over 50 years old. The diagnostic was suspected in almost half of the cases. Right cavity was more affected and the extended fibrosis was present in a significant number of cases. The inflammatory conflict was of reactive type, with giant Langhans cells granulomas and acidophilic necrosis but sometimes with superinfection or significant fibrous sequelae. CONCLUSIONS: Pleural effusions of TB origin are a reality more and more present due to the recrudescence of pulmonary TB in the last decades. Their presence should be suspected if faced to a unilateral pleural effusion with free-flowing fluid occurred almost often to a man of any age from youth to elderly.