Publications by authors named "J J De Nef"

Objective: To evaluate a novel technique for diaphragmatic full-thickness resection (DFTR) using a vascular stapler to perform cytoreductive surgeries in patients with advanced ovarian cancer.

Study Design: Single-center retrospective analysis of consecutive patients with advanced-stage ovarian cancer undergoing stapled diaphragmatic full-thickness resections (S-DFTRs) as part of cytoreductive surgeries between January 2018 and June 2022, according to the IDEAL recommendations.

Results: Fifteen patients underwent cytoreductive surgeries with S-DFTRs.

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Objective: To synthesize the evidence on Sertoli-Leydig cell tumour (SLCT) relapses, and identify the clinicopathological characteristics and prognosis of patients with recurrent SLCT.

Methods: A literature search was undertaken of all published cases of SLCT relapse found in PubMed, Embase and Web of Science databases between January 1998 and January 2021. All articles in English reporting at least one case of SLCT relapse and mentioning the relapse location or the follow-up data were included.

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Sertoli-Leydig cell ovarian tumors (SLCT) are rare ovarian tumors of the sex cord-stroma subset. Their incidence peaks in the second to third decade of life. Most SCLT are diagnosed at an early stage and have a good prognosis.

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Joubert syndrome (JBS) is a clinically variable and genetically heterogeneous developmental brain disorder with autosomal recessive inheritance. Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIP1L, and two additional loci on chromosome 9 and 11 have been identified so far. The relative contributions of AHI1 mutations and NPHP1 deletions have not yet been determined in a population-based JBS patient cohort.

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Joubert syndrome is a rare disorder, characterized by hypoplasia, or aplasia of the cerebellar vermis, hypotonia, ataxia, and psychomotor retardation. The molecular basis underlying the disease is still unknown. There are various syndromes, which are associated with malignancies.

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