La Revue de médecine interne
-
Telomeres are composed of a repeated sequence of double-stranded nucleotides TTAGGG and numerous proteins including the Shelterin complex. Their main role is to maintain the stability of the genome during cell replication through a mechanism of copying the repeted sequence by the telomerase complexe. All the diseases involving a deregulation of this complex are now grouped together under the term telomeropathies. They are difficult to diagnose and manage. Our objective was to describe the clinico-biological characteristics and treatments used, in patients affected by telomeropathies previously seen by an hematologist followed at the Lille University Hospital Center. ⋯ It is important to be aware of the complexity of telomeropathies, a differential diagnosis of immune aplastic anemia, in order to optimize management and avoid inappropriate treatments. Allografting of hematopoietic stem cells is the only potentially curative treatment. Our analysis found particularities in immunophenotyping lymphocyte not previously described to our knowledge, whose physiopathological imputability remains to be demonstrated.
-
Looking at the urine for diagnostic purposes, once performed by ancient Egyptians, can still provide some valuable clues in modern medicine. Several diseases have been named after their associated urine color and this underlines the clinical value of visual urine inspection: blue diaper disease, purple urine bag syndrome, black urine disease or porphyria. Abnormal urine color could be challenging for the clinician: it may reveal neoplastic disease (urologic cancer; melanoma), cell lysis (rhabdomyolysis; hemolysis), infection (lymphatic filariasis; malaria), enzyme deficiency (porphyria; alkaptonuria), medication or food intake. In this article, we present the diagnostic approach, the mechanisms involved and the main causes of abnormal urine color.
-
Cutaneous manifestations of Crohn's disease are frequent and include metastatic lesions. These are separated from the digestive tract and affect particularly the limbs and major folds. Umbilical involvement is exceptional. ⋯ We report a unique case of umbilical metastatic localization of Crohn's disease occurring during treatment with anti-TNF alpha. The diagnosis was based on skin biopsy and histology which found epithelioid granulomas without caseous necrosis.