Publications by authors named "R Slim"

To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients with androgenetic HMs, including a familial case of 3 affected members. Five of these genes are essential for meiosis I, and their deficiencies lead to premature ovarian insufficiency.

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This article focuses on hydatidiform mole (HM), which is the most common form of gestational trophoblastic disease and the most studied at the genomic and genetic levels. We summarize current laboratory methods to diagnose HM, discuss their limitations and advantages, and share the lessons we have learned. We also provide an overview of the history of recurrent HM, their known genetic etiologies, and the mechanisms of their formation.

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Sertraline, a selective serotonin reuptake inhibitor, is a medication recommended as a third line treatment of cholestatic liver injury pruritis. We report a case of a young male who developed liver injury secondary to self-administration of anabolic steroids and who complained of persistent pruritis leading to a treatment by sertraline. Two days later, the patient was admitted to the hospital with a severe hypoglycemia, while the liver function tests were in amelioration.

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