Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility.

BACKGROUND: Complete deletion of the complete AZFc interval of the Y chromosome is the most common known genetic cause of human male infertility. Two partial AZFc deletions (gr/gr and b1/b3) that remove some copies of all AZFc genes have recently been identified in infertile and fertile populations, and an association study indicates that the resulting gene dose reduction represents a risk factor for spermatogenic failure. METHODS: To determine the incidence of various partial AZFc deletions and their effect on fertility, we combined quantitative and qualitative analyses of the AZFc interval at the DAZ and CDY1 loci in 300 infertile men and 399 control men. RESULTS: We detected 34 partial AZFc deletions (32 gr/gr deletions), arising from at least 19 independent deletion events, and found gr/gr deletion in 6% of infertile and 3.5% of control men (p>0.05). Our data provide evidence for two large AZFc inversion polymorphisms, and for relative hot and cold spots of unequal crossing over within the blocks of homology that mediate gr/gr deletion. Using SFVs (sequence family variants), we discriminate DAZ1/2, DAZ3/4, CDY1a (proximal), and CDY1b (distal) and define four types of DAZ-CDY1 gr/gr deletion. CONCLUSIONS: The only deletion type to show an association with infertility was DAZ3/4-CDY1a (p = 0.042), suggesting that most gr/gr deletions are neutral variants. We see a stronger association, however, between loss of the CDY1a SFV and infertility (p = 0.002). Thus, loss of this SFV through deletion or gene conversion could be a major risk factor for male infertility.

[Ophthalmological complications in ORL and maxillofacial surgery]. / Complications ophthalmologiques de la chirurgie ORL et maxillo-faciale.

E.N.T. and maxillo-facial surgery may sometimes cause dramatic eye damage. Following a brief summary of the eye's anatomy and its surrounding parts, the most frequent surgical acts which may cause orbital complications are described. Perfect knowledge of the eye and its surrounding parts enable us to offset the dramatic changes due to the pathology.

[Rehabilitation of the abduction of the vocal cord by selective nerve anastomosis in dogs]. / Réhabilitation de l'abduction de la corde vocale par anastomose nerveuse sélective chez le chien.

Laryngeal reinnervation procedures were performed on 15 dogs. Anastomosis was performed between a selected motor branch of the ansa hypoglossi and the posterior crico-arytenoid nerve. The results were analyzed endoscopically, electromyographically, and histologically. Results were satisfactory in 12 cases. The methods and results have been compared with those obtained using other reinnervation techniques.

[Isolated fractures of the medial orbital wall, surgical indications in 5 cases]. / Fracture isolée de la paroi interne de l'orbite, indications chirurgicales à propos de cinq cas.

Isolated fractures of the medial orbital wall are always blowout fractures. They are usually diagnosed when horizontal diplopia occurs (lateral movements of the globe and Lancaster test). If the medial rectus muscle is encapsulated (forced ductions and CT-scan), the area of restriction has to be explored surgically.