Tackling rare syndromes

Rare Syndromes Associated with Infertility

Five rare psychiatric syndromes cooccurring together.

P rare syndromes are interesting subjects found all around the world, and we have no comprehensive model to classify them. This is partially due to the little body of knowledge that exists, and because of their rarity, we know of them mostly via case reports, which include only one or a few cases. In this report, we present a case with symptoms of 5 rare syndromes, including; lycanthropy, Cotar...

Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes

The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or -Y have been extensively explored for their prognostic ...

Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders.

Manifestations of non-syndromic hypothalamic hamartomas are different from those of the syndromic hamartomas, and the syndromic ones are rare. In spite of the rarity of the syndromic hamartomas, they can be a powerful biological tool to help us understand the pathophysiology of these heritable disorders. Several disorders that include hypothalamic hamartomas are reviewed here and the current un...

Rare mutations in DNMT3A in myeloproliferative neoplasms and myelodysplastic syndromes

Alterations of epigenetic marks are thought to play an important role in myeloid malignancies. In particular, aberrant DNA methylation is a hallmark of these diseases. DNMT3A and DNMT3B methyltransferases have predominant role in de novo methylation of DNA. Mutations in DNMT3A have been found in roughly 20% of acute myeloid leukemia (AML). The precise mechanism by which DNMT3A may affect DNA me...