RESUMO
During development, the deletion of DNA from chromosome 13's short arm (q) causes a chromosomal abnormality known as chromosome 13q deletion syndrome. Chromosome 13 terminal deletions are rare and may cause various congenital disabilities, and only a few cases have been reported in the literature. The extent of chromosome 13q deletion syndrome changes lacks consistent clinical features, with no recorded cases of genital ambiguity until now. We report the case of a newborn male patient whose testes had descended on both sides; he had ambiguous genitalia, and the dorsal surface of his penis was attached to his scrotal sac. An abnormal karyotype (46, XY, deletion (13) q33) was discovered by using a G-banding analysis of chromosomes in a blood sample taken from the periphery, which revealed a deletion of chromosome 13 at the end of the first 10 cells. We can better characterize chromosome 13q deletions by establishing stronger correlations between karyotype and the distinctive phenotypes of haploinsufficient genes found on the chromosome.
RESUMO
As a chronic autoimmune disease, systemic lupus erythematosus (SLE) primarily affects young women and does not discriminate against any particular organs. In December 2019, coronavirus disease 2019 (COVID-19) spread worldwide, with many speculations of cardiac involvement in the pathogenesis of infection. Moreover, in cases where cardiac symptoms were described, they consisted solely of chest pain or a general deterioration in health if the patient presented with pleural effusion or pericardial effusion. Our patient, a 25-year-old Hispanic woman, initially complained of chest pain, cough, and shortness of breath. After being admitted, she noticed growing dyspnea and mild discomfort on the right side of her chest. The patient had both SLE and COVID-19 and had developed pleural and pericardial effusions. After two days in culture, nothing had grown from the fluid samples. In addition, measures of brain natriuretic peptide and total creatine kinase fell within the normal range. Considering the investigational findings, pericardiocentesis was performed. After the procedure, the patient's condition improved, and she was discharged. The patient continued taking CellCept® 1,500 mg and Plaquenil 200 mg and started taking colchicine. Her daily prednisone dose was increased to 40 milligrams. She felt well initially; however, after two weeks of follow-up, the pericardial effusion recurred, and pericardiocentesis was performed again. The patient was discharged in stable condition after a two-day hospital stay. After treatment of both initial and recurrent effusions, the patient's cardiac symptoms were resolved, and blood pressure became stable. We hypothesize that there may be other unreported cases of COVID-19-related viral pericarditis, pericardial effusion, and pericardial tamponade that could be caused by a combination of COVID-19 and a pre-existing condition, mainly autoimmune disorders. Due to the lack of clarity surrounding typical COVID-19 manifestations, it is crucial to record all cases of this unique illness and analyze any increased incidence of pericarditis, pericardial effusion, and pericardial tamponade in the public.
