Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to eluci...Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to elucidate sex in cases of anomalies of sexual differentiation in Burkina Faso. This cross-sectional study took place from March 2023 to June 2023. Oral and blood samples were collected respectively using sterile swabs and stored on Swab Kits and NUCLEIcardTM (https://www.copangroup.com/product-ranges/nucleic-card/) were used to determine gonosome profiles. Extraction was carried out using the DNA Swap solution Kit and the DNA IQ System Kit, and a PowerPlex? 21 kit (Promega) for amplification. The Applied Biosystems 9700 thermal cycler was used for PCR followed by 36 cm capillary electrophoresis in the Applied Biosystems 3130 prism sequencer. Sequence files were analyzed using GeneMapper IDX v. 3.2 software. Seven (07) patients were registered during the study period. There were 4 cases of XX DSD or 46, XX DSD and 3 cases of XY DSD or 46, XY DSD. The median age of our patients was 16 years. Civilian sex was male in 4 cases and female in 3. The most frequent reason for consultation was micropenis in 3 cases, followed by primary amenorrhea and sex ambiguity. There were 03 cases of discrepancy between genetic sex and civil sex. The accessibility of molecular diagnosis is little known to clinicians. XX DSDs or 46, XX DSDs were the most frequent (4/7) in our study. The problem facing this situation is early diagnosis to help prevent complications in Burkina Faso.展开更多
Objective::To identify Candida species in asymptomatic subjects in Bobo-Dioulasso(Burkina Faso) by the matrix—assisted laser desortption ionization—time of flight mass spectrometry.Methods:A cross-sectional study wa...Objective::To identify Candida species in asymptomatic subjects in Bobo-Dioulasso(Burkina Faso) by the matrix—assisted laser desortption ionization—time of flight mass spectrometry.Methods:A cross-sectional study was conducted from January to February 2013 in BohoDioulasso to coiled fecal and urine specimens from voluntary donors.Fungal strains were isolated on Sabouraud dextrose agar and analyzed using matrix—assisted laser desorption ionisation—time-of—flight mass spectrometry.Results:A total of 135 samples including stools(78.5%,106/135) and urine(21.5%,29/135) were analyzed.The results revealed that fecal specimens contained mainly Candida krusei(C.krusei)(42.5%) followed by Candida albicans(29.3%),Candida glabrata(18.0%) and Candida tropicalis(C.tropicalis)(4.7%).C.krusei(34.6%) was also found to be the most frequently identified in urine samples followed by Candida albicans(27.0%).C.tropicalis(15.4%) and Candida parapsilosis,However,uncommon species such as Candida nivariensis.Candida kefyr.Candida norvegensis,Candida parapsilosis.Candida lusitaniae and Candida robusta were also identified from fecal and urines samples.Conclusions:This study noted the emergence of species such as C.krusei,Candida glabrata,Candida parapsiolosis,C.tropicalis,Candida nivariensis,Candida norvegensis,and others.It is an imperative to take into account the existence of these species in the therapeutic management of patients in Bobo—Dioulasso.展开更多
文摘Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to elucidate sex in cases of anomalies of sexual differentiation in Burkina Faso. This cross-sectional study took place from March 2023 to June 2023. Oral and blood samples were collected respectively using sterile swabs and stored on Swab Kits and NUCLEIcardTM (https://www.copangroup.com/product-ranges/nucleic-card/) were used to determine gonosome profiles. Extraction was carried out using the DNA Swap solution Kit and the DNA IQ System Kit, and a PowerPlex? 21 kit (Promega) for amplification. The Applied Biosystems 9700 thermal cycler was used for PCR followed by 36 cm capillary electrophoresis in the Applied Biosystems 3130 prism sequencer. Sequence files were analyzed using GeneMapper IDX v. 3.2 software. Seven (07) patients were registered during the study period. There were 4 cases of XX DSD or 46, XX DSD and 3 cases of XY DSD or 46, XY DSD. The median age of our patients was 16 years. Civilian sex was male in 4 cases and female in 3. The most frequent reason for consultation was micropenis in 3 cases, followed by primary amenorrhea and sex ambiguity. There were 03 cases of discrepancy between genetic sex and civil sex. The accessibility of molecular diagnosis is little known to clinicians. XX DSDs or 46, XX DSDs were the most frequent (4/7) in our study. The problem facing this situation is early diagnosis to help prevent complications in Burkina Faso.
文摘Objective::To identify Candida species in asymptomatic subjects in Bobo-Dioulasso(Burkina Faso) by the matrix—assisted laser desortption ionization—time of flight mass spectrometry.Methods:A cross-sectional study was conducted from January to February 2013 in BohoDioulasso to coiled fecal and urine specimens from voluntary donors.Fungal strains were isolated on Sabouraud dextrose agar and analyzed using matrix—assisted laser desorption ionisation—time-of—flight mass spectrometry.Results:A total of 135 samples including stools(78.5%,106/135) and urine(21.5%,29/135) were analyzed.The results revealed that fecal specimens contained mainly Candida krusei(C.krusei)(42.5%) followed by Candida albicans(29.3%),Candida glabrata(18.0%) and Candida tropicalis(C.tropicalis)(4.7%).C.krusei(34.6%) was also found to be the most frequently identified in urine samples followed by Candida albicans(27.0%).C.tropicalis(15.4%) and Candida parapsilosis,However,uncommon species such as Candida nivariensis.Candida kefyr.Candida norvegensis,Candida parapsilosis.Candida lusitaniae and Candida robusta were also identified from fecal and urines samples.Conclusions:This study noted the emergence of species such as C.krusei,Candida glabrata,Candida parapsiolosis,C.tropicalis,Candida nivariensis,Candida norvegensis,and others.It is an imperative to take into account the existence of these species in the therapeutic management of patients in Bobo—Dioulasso.
