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Characteristics of Caf é-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children
In conclusion, cafe-au-lait macules with high melatonin content are associated with patients carrying non-protein-truncating variants. Therefore, measurement of cafe-au-lait macule pigment intensity might provide useful information for initial assessment of patients with neurofibromatosis type I and the severity of their future phenotype.PMID:37272364 | DOI:10.2340/actadv.v103.5758
Source: Acta Derm Venereol A... - June 5, 2023 Category: Dermatology Authors: Lamprini Nasi Alexios Alexopoulos Eleftheria Kokkinou Kleoniki Roka Maria Tzetis Maria Tsipi Talia Kakourou Christina Kanaka-Gantenbein George Chrousos Antonis Kattamis Roser Pons Agia Sophia Neurocutaneous Group Source Type: research

Sleep Disorders in Huntington ’s Disease
ConclusionsDifferent patterns of sleep disturbances are observed in HD patients: insomnia, difficulties in falling asleep, frequent nocturnal awakenings, and excessive daytime sleepiness are the most common sleep problems reported by patients with HD. In several HD studies, specific changes in sleep architecture and in circadian melatonin secretion were identified in laboratory testing.Sleep disorders in HD have diverse and complex determinants, the most significant of which includes damage to brain areas that are responsible for the proper sleep pattern and circadian rhythm regulation. Sleep and circadian rhythm disorders...
Source: Frontiers in Psychiatry - April 11, 2019 Category: Psychiatry Source Type: research