Temozolomide-induced hypermutation is associated with distant recurrence and reduced survival after high-grade transformation of low-grade IDH-mutant gliomas.

Background: Chemotherapy improves overall survival after surgery and radiotherapy for newly diagnosed high-risk IDH-mutant low-grade gliomas (LGGs), but a proportion of patients treated with temozolomide (TMZ) will develop recurrent tumors with TMZ-induced hypermutation. We aimed to determine the prevalence of TMZ-induced hypermutation at recurrence and prognostic implications.

Methods: We sequenced recurrent tumors from 82 patients with initially low-grade IDH-mutant gliomas who underwent reoperation and correlated hypermutation status with grade at recurrence and subsequent clinical outcomes.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode β- and γ-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows.

[What does a thorough personality questionnaire, the MMPI-2, tell us about psychological aspects of recurrent miscarriage?].

Objectives: Try to analyse the experience of couples undergoing repeated miscarriages by answering the following questions: what can we learn from these men and women who suffered from repeated miscarriages?

Patients And Methods: A thorough personality questionnaire, the MMPI-2, presented to 50 couples who have had repeated miscarriages.

Results: Through a hierarchical classification, different profiles appear in the men's group as well as in the women's group, revealing a somatization of psychological suffering. It is also revealing acute defensive personality profiles showing restricted affects in a lot of these men whose partners have suffered from multiple procreation failures.

Selection of normal spermatozoa with a vacuole-free head (x6300) improves selection of spermatozoa with intact DNA in patients with high sperm DNA fragmentation rates.

Intracytoplasmic morphologically selected sperm injection (IMSI, 6300× magnification with Nomarski contrast) of a normal spermatozoon with a vacuole-free head could improve the embryo's ability to grow to the blastocyst stage and then implant. However, the most relevant indications for IMSI remain to be determined. To evaluate the potential value of IMSI for patients with a high degree of sperm DNA fragmentation (n = 8), different types of spermatozoa were analysed in terms of DNA fragmentation.

[Anatomic evaluation of the female of the infertile couple].

One third of infertility cases are due to anatomical abnormalities of the female reproductive tract: endometrial polyps (33%), bilateral tubal blockage (12%), hydrosalpinx (7%), sub-mucosal fibroids (3%) and pelvic endometriosis. These may need surgical correction which could restore fertility. This review aim to determine which examinations should be performed first.