Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Constitutional heterozygous mutations in CHEK2 gene have been associated with hereditary cancer risk. To date, only a few homozygous CHEK2 mutations have been reported in families with cancer susceptibility. Here, we report two unrelated individuals with a personal and familial cancer history in whom biallelic CHEK2 alterations were identified.

First genetic maps development and QTL mining in L. through ddRADseq.

Persian Buttercup ( L.; 2x=2n=16; estimated genome size: 7.6Gb) is an ornamental and perennial crop native of Asia Minor and Mediterranean basin, marketed both as cut flower or potted plant.

Genome-Wide Survey and Development of the First Microsatellite Markers Database () in L.

L. (2n = 2x = 16) is a perennial, allogamous, highly heterozygous plant marketed as a cut flower or in gardens. Due to its large genome size, limited efforts have been made in order to develop species-specific molecular markers.

[Hyponatremia associated to pituitary adenomas. Report of three patients].

Severe hyponatremia occurring as the presenting feature of hypopituitarism secondary to pituitary adenomas is rare. We report three patients with this condition: Two elderly males (74 and 78 year-old) presenting with impaired consciousness and low plasma sodium after an episode of diarrhea and a 56-year-old male presenting with impaired consciousness after an episode of vomiting. All had clinical features of hypopituitarism and pituitary adenomas were found on imaging studies.

Successful treatment of hyperthyroidism with amiodarone in a patient with propylthiouracil-induced acute hepatic failure.

Acute hepatic failure is a rare and potentially lethal complication of propylthiouracil (PTU) use for hyperthyroidism. We present a 20-year-old woman with Basedow-Graves' disease who developed PTU-induced fulminant hepatitis, which progressed to acute hepatic failure with grade III hepatic encephalopathy. Laboratory evaluation ruled out the most common causes of fulminant hepatitis.