హ్యూమన్ జెనెటిక్స్ & ఎంబ్రియాలజీ

Aims and Objectives: This article aims to determine the most frequent cause of basilar hypoplasia and evaluate the potential impact of associated pathological findings simultaneously.

Material and Methods: We have retrospectively reviewed the patients in our archive with basilar hypoplasia and embryonic origin of ACPs. These patients have been studied using 3D TOF with 3D-VR reconstruction. The studies have been carried out using MRI of 1.5 and 3T. Several of them have also undergone cerebral angiography by digital subtraction.

Results: The most frequent cause of basilar hypoplasia has been associated with the embryonic origin of both bilateral ACPs with 27 cases. In 3 cases, the basilar artery hypoplasia has been associated with persistent trigeminal artery. In 25 patients studied the basilar hypoplasia was an incidental finding in the context of a routine MRI study including angio MRI sequences. Of the patients studied only 5 had allegedly clinical history that could be related to hypoplastic basilar artery.

Conclusion: Hypoplasia of basilar artery is a related variant, in most cases, with both embryonic origins of ACPs. In most of the patients studied, this was an incidental finding. However the said variant may be a predisposing factor to cause any grade of vascular insufficiency in the territory of vertebro-basilar artery. With respect to the aneurysm, associated described persistent trigeminal artery is thought likely may have a causal relationship with this variant.

Background: Disorders of sex development (DSD) are congenital conditions in where there is a disagreement between phenotypic sex and genotypic sex. They involve problems of management and beliefs in developing countries. We report here a ten months old Congolese infant with abnormal external genitalia and make a mini review on the normal embryonic development of genital tract and report the most common aetiologies’ of DSD.

Patients and Observations: Visualization of internal genitalia was realized by genitography. Genetic sex was determined by karyotyping, fluorescent in situ hybridization (FISH) analysis and polymerase chain reaction of SRY gene.

Results: Genitographic image showed the uterus and the vaginal cavity. Karyotype and FISH visualize two X chromosomes and absence of chromosome Y confirmed by negative SRY PCR amplification.

Conclusion: We concluded that this infant is of ten months old is a 46, XX-DSD male external genitalia with SRY-negative.

Objective: The main purpose of this study was the detection of the bacterial strain Mycoplasma hominis, which is one of the 14 Mycoplasma species, in spontaneous abortions.

Methods: Placental tissues from 59 miscarriages of the first and second trimester from different areas of Thrace were used. DNA was extracted using a specific kit and the presence of the Mycoplasma hominis strain was detected by PCR.

Results: Among the samples that were examined 2 were proven to be infected by Mycoplasma hominis.

Conclusion: The results of our research imply that a small percentage (~3.6%) of spontaneous abortions could be due to the presence of Mycoplasma hominis. PCR is a reliable, sensitive and easy method for the determination of this type of infection and could be applied in the clinical routine.