Publications by authors named "J Cattin"
Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.
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- Preimplantation genetic testing (PGT) helps choose healthy embryos to have a better chance of a healthy baby.
- Recent research shows that a single blastocyst transfer can actually lead to identical twins, which was thought not to happen before.
- The study also suggests we should check the genes of twins from a single blastocyst transfer to ensure they are both healthy and developed a new method to do this safely.
Article Synopsis
- Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare neurocutaneous disorder marked by abnormalities in the eye, skin, and central nervous system, particularly featuring scalp fatty tissue nevi and intracranial lipomas.
- A recent case involved a diagnosis made after pregnancy termination at 35 weeks gestation, with thorough prenatal imaging and a complete post-mortem examination revealing multiple spinal lesions and cerebral anomalies.
- The findings included unreported cardiac and kidney issues alongside typical signs of ECCL, and diagnosis was supported by identifying a specific genetic mutation related to the syndrome.
Acute leukemia during pregnancy is rare (1 for 100000 pregnancies). The association of arsenic trioxide (ATO) and all-trans retinoic acid (ATRA) is known as the best therapy in standard-risk acute promyelocytic leukemia (APL). We describe the first case of a pregnancy with ATRA and ATO reported in the literature.
View Article and Find Full Text PDF[Evaluation of satisfaction after in-office conization under local anesthesia].
J Gynecol Obstet Biol Reprod (Paris)
October 2016
Objectives: Treating cervical intraepithelial neoplasia is essential in cervix carcinoma prevention and conization is the standard treatment. In the current medical and economic context, which advocates the simplification of procedures, loop excision conization is well adapted to an in-office procedure. Therefore, we evaluated the patient satisfaction after an in-office conization.
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