Molecular Diagnosis of Sexual Differentiation Disorders in Burkina Faso

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.

Roles of protein tyrosine phosphatases in reproduction and related diseases

Protein tyrosine phosphatases(PTPs)remove phosphate groups from protein tyrosine residues to regulate various cell signaling processes,subsequently affecting the growth,metabolism,differentiation,immune response,and other cellular processes.Several studies have investigated the functions of PTPs in tumor and organism immunity.However,only a few studies have focused on their roles in reproductive disorders.Therefore,in this review,we summarize the roles and underlying molecular mechanisms of PTPs in infertility,spontaneous abortion,pregnancy-induced hypertension,gestational diabetes mellitus,early embryonic developmental abnormalities,and preterm birth.This review can contribute to future research on PTPs and their potential applications as targets in the treatment of reproductive diseases.

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy

Focal epilepsy accounts for 60% of all forms of epilepsy, but the pathogenic mechanism is not well understood. In this study,three novel mutations in NPRL3(nitrogen permease regulator-like 3), c.937_945del, c.1514dup C and 6,706-bp genomic DNA(g DNA) deletion, were identified in three families with focal epilepsy by linkage analysis, whole exome sequencing(WES) and Sanger sequencing. NPRL3 protein is a component of the GATOR1 complex, a major inhibitor of m TOR signaling. These mutations led to truncation of the NPRL3 protein and hampered the binding between NPRL3 and DEPDC5, which is another component of the GATOR1 complex. Consequently, the mutant proteins enhanced m TOR signaling in cultured cells, possibly due to impaired inhibition of m TORC1 by GATOR1. Knockdown of nprl3 in Drosophila resulted in epilepsy-like behavior and abnormal synaptic development. Taken together, these findings expand the genotypic spectrum of NPRL3-associated focal epilepsy and provide further insight into how NPRL3 mutations lead to epilepsy.

Correlation analysis of internal jugular vein abnormalities and cerebral venous sinus thrombosis

Background Cerebral venous sinus thrombosis （CVST） is a special form of stroke with multiple causes and risk factors. However, there are still a portion of cases with unknown reasons. The aim of this study was to investigate the relationship between internal jugular vein （IJV） abnormalities and the development of CVST. Methods A total of 51 CVST patients and 30 healthy controls were enrolled. The diameter, the maximum velocity （Vmax） and the reflux time in bilateral IJVs were measured by color Doppler flow imaging （CDFI）. The paired t test was used to compare the numeric values between the bilateral IJVs. The Pearson chi-square test was used to evaluate the relationship between IJV abnormality and CVST, IJV abnormality and IJV reflux, respectively. Results Among the 51 CVST patients, 20 （39%） patients were with normal IJV and 31 （61%） patients were with abnormal IJV. The types of IJV abnormality included annulus stenosis 19 cases （61%）, hypoplasia 9 cases （29%）, thrombosis 2 cases （7%） and anomalous valve 1 case （3%）. In patients with unilateral IJV abnormality, the minimum diameter of the IJV on the lesion side was significantly smaller than that of the contralateral side （P 〈0.0001）. When compared with contralateral side, the Vmax of the lesion side with unilateral annulus stenosis was significant higher, however, it was obvious lower in patients with unilateral hypoplasia （P 〈0.05）. Furthermore, among 27 cases with unilateral IJV abnormality, all the CYST occurred on the same side as the IJV lesions.