Publications by authors named "M L Quintanilla-Mata"
Background: Proteinuria is a well-known risk factor for progressive kidney impairment. Recently, C-terminal cubilin (CUBN) variants have been associated with isolated proteinuria without progression of kidney disease.
Methods: Genetic testing of 347 families with proteinuria of suspected monogenic cause was performed by next-generation sequencing of a custom-designed kidney disease gene panel.
Objective: We present a case of X-Y translocation with male phenotype (46,XX testicular disorder of sex development) and review the literature.
Methods: Disorders of sex development with mismatch of genetic, gonadal and phenotypic sex are quite rare, and some are due to genetic or chromosomal abnormalities. The karyotype was investigated by a cytogenetic study of peripheral blood (phytohemagglutinin-timulated lymphocyte culture over 72 hours).
Objectives: The evaluation of a recently established guidelines about the assessment of semen samples after vasectomy in the laboratory of the Hospital General of Albacete and to modify them to optimize the number of semen samples provided per patient but keeping in concordande with the international recommendations.
Patients And Methods: The records of seminal analysis results from vasectomies performed from January 2002 to December 2004 were reviewed. Our vasectomy guidelines are based upon those of the British Andrology Society (BAS) and those of the World Health Organization for seminal assessment.
Objectives: To evaluate if the analytical process might justify that in some patients rare non motile sperm might be seen in some but not all their post-vasectomy semen samples.
Patients And Methods: Post vasectomy ejaculates received in our Center from january 2002 to december 2004 were reviewed. We used our own guidelines for post vasectomy semen assessment based upon those of the British Andrology Society for the evaluation of post vasectomy semen samples and the World Health Organization guidelines for semen analysis.