Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.

Leukocyte adhesion deficiency type 1 (LAD1) is a rare autosomal recessive hereditary disorder characterized by recurrent infections, impaired pus formation, delayed wound healing, omphalitis, and delayed separation of the umbilical cord as hallmark features of the disease. It results from mutations in the integrin ß2 subunit gene ITGB2, which encodes the integrin beta chain-2 protein CD18. In this study, we aimed to investigate the case of a five-month-old boy who presented with a clinical phenotype and flow cytometry results suggesting LAD1 disease. Sanger sequencing of all exons and intron boundaries of ITGB2 identified a novel in-frame deletion in exon 7 (ITGB2 c.844_846delAAC, p.Asn282del) in the patient. The p.Asn282del mutation was heterozygous in the child's parents, whereas it was absent in the 96 control individuals from North Africa. This variant was evaluated by two in silico mutation analysis tools, PROVEAN and MutationTaster, which predicted that the mutation was likely to be pathogenic. In addition, molecular modeling with the YASARA View software suggested that this novel mutation may affect the structure of integrin beta-2 and, subsequently, its interaction with integrin alpha-X. In summary, we report a novel pathogenic mutation p.Asn282del associated with LAD1 that expands the mutation diversity of ITGB2 and suggest the combination of flow cytometry and ITGB2 sequencing as a first-line diagnostic approach for LAD disease.

Infertility in the Moroccan population: an etiological study in the reproductive health centre in Rabat.

The causes of infertility vary widely and differ between regions and within countries. There is no report on this subject in Morocco. Therefore, the aim of this study was to determine the causes of infertility in Moroccan infertile couples and to compare the findings with data from the various published studies. This retrospective study included 1265 infertile couples who attended the Assisted Reproductive Technology Unit of the Reproductive Health Centre of the University Hospital Ibn Sina in Rabat. All couples had been infertile for at least 1 year and both partners were fully investigated. The median duration of infertility was 5 ± 4 years. Couples had primary and secondary infertility in 77.2% and 22.8% of cases, respectively. Among the 1265 couples, 39.6% had a female factor, 28.2% had a male factor, 17% had both male and female factors and in 15.2% of couples, the cause of infertility was undetermined. The most common causes of male infertility were varicocele (14.3%), obstructive azoospermia (7%), Congenital anomalies (5.5%) and male accessory gland infection (4%). Results showed that 54.8% of men had a normal semen analysis. Among women, infertility factors were ovulatory disorders (27.5%), tubal factor (26.6%), uterine factor (12.6%), endometriosis (4.1%), and 43.4% of women were normal. The causes of infertility in this study are comparable with those reported by the World Health Organization and other studies. However, the substantial delay before attending an infertility clinic highlighted by the study needs additional consideration.

Infertility in the Moroccan population: major risk factors encountered in the reproductive health centre in Rabat.

Infertility is responsible for a major cost burden for patients and health care systems. Therefore identifying preventable risk factors for infertility may contribute to the development of more cost-effective approaches to solving the infertility problem. However, such investigations have never been conducted in Morocco. Thereby, the objective of the present study was to determine the occurrence and distribution of these factors among Moroccan infertile couples. This retrospective study included 1265 infertile couples who attended the Assisted Reproductive Technology Unit of the Reproductive Health Centre of the University Hospital Ibn Sina in Rabat. All couples had been infertile for at least 1 year and both partners were fully investigated. Couples had primary and secondary infertility in 77.2% and 22.8% of cases, respectively. Women were overweight in 47.9% of cases and obese in 25.8% of cases while men were overweight in 44.6% of cases and obese in 14.7% of cases. 18.9% of women and 17.5% of men had a previous abdominopelvic or urogenital surgery. A history of sexually transmitted infection was reported by 7% of men and 5.8% of women. A history of tuberculosis was found 9.3% of women and 4.8% of men. In addition, 31.7% of men were cigarette smokers and 8.4% consumed alcohol. The study showed that preventable risk factors of infertility are common among Moroccan infertile couples. However, additional studies are required to investigate each factor and its relation to infertility in the Moroccan population.

[Retrospective assessment of an assisted reproductive technology method]. / Vérification des performances d'une méthode de procréation médicalement assistée.

The validation of methods in medical biology is a fundamental step in which the laboratory defines its analytical objectives, characterizes the performance of the technique according to the level of quality it fixes and discusses the results obtained. The objective of this work is to contribute to respect the requirements of ISO 15189 in terms of performance verification of a manual qualitative technique of medically assisted procreation (PMA): morphological identification of the oocyte, the zygote and the embryo, harmonization of professional practices and assessment of competences by associating the bibliographic approach and above all by justifying its choices. Validation of PMA methods is difficult for reasons related to the mostly manual methods used in our context but also to the type of matrix i.e. the oocyte sampling which remains a valuable harvest. Due to the lack of internal quality control and external quality evaluation, risk control in the three pre-, post- and post-analytical stages becomes decisive, based on the 5M method, the establishment of coherent means of control adapted to its own practice, it also concerns the empowerment of staff through training, evaluation and monitoring of operators' performance.