CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn.

Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, was homozygous for c.535G > A, p.(Ala179Thr) a pathogenic variant in the CYB5R3 gene. The reported population frequency of the allele is 0.853%, demonstrating why it is remarkable to find both parents are heterozygous carriers without consanguinity. A brief review of previously published cases is also presented.

[Influence of sex differences in biological aggressivity of bladder urothelial tumor at first diagnosis]. / Influencia de la diferencia de sexo en la agresividad biológica del tumor urotelial vesical en su primer diagnóstico.

RATIONALE: To investigate whether, in the same way incidence is affected, biological aggressiveness of bladder cancer at diagnosis is greater in men than in women. METHOD: Using data from a retrospective study on urothelial cancer of the bladder between 1975 and 1991 in La Rioja (Spain), an estimate was made of total Relative Risk, Mantel-Haenszel relative weighted risk and Greenland-Robins 95% confidence interval of suffering infiltrant bladder cancer in male versus female, assuming that the tumour affecting the muscle layer was infiltrant. RESULTS: Total Relative Risk (1.05). Mantel-Haenszel relative weighted risk (1.08), and Greenland-Robins confidence interval (0.65-Relative Risk-1.08). CONCLUSIONS: It is concluded that sex differences have no influence on the risk to develop infiltrant urothelial cancer of the bladder at diagnosis.