Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy. | LitMetric
We describe the third case (to our knowledge) of multiple basal cell carcinoma associated with myotonic dystrophy and carry out a genetic study of the tumor comparing it with healthy skin. We consider that our results show that this association might be not a purely random phenomenon and that the particular genetic characteristics of this disorder might have a role in the pathogenesis of the tumor.
Fahr's disease is a rare neurological disorder which is characterized by the presence of abnormal, symmetrical, and bilateral calcifications within the basal ganglia and other cerebral areas. Seizures are 1 of the symptoms that may aid in its diagnosis. Fahr's disease is diagnosed in adults mostly.
Purpose: Familial cerebral cavernous malformation syndrome (FCCM) is characterized by multiple hemorrhagic lesions and is sometimes mistaken for cerebral amyloid angiopathy (CAA).
Methods: We compared clinical and radiologic characteristics in patients with definite (N = 32) and presumed FCCM (n = 76) to patients with definite (N = 29) and probable CAA (N = 21).
Introduction: The clinical biochemical characteristics and target organ damage (TOD) in patients with plasma aldosterone concentrations (PAC) ranging from 50 to 100 ng/L after a saline infusion test (SIT) have not been fully studied.
Methods: A total of 611 hypertensive patients with an elevated aldosterone-to-renin ratio (ARR) who underwent a supine SIT at Henan Provincial People's Hospital were enrolled. The patients were divided into three groups according to their post-SIT PAC: <50 ng/L (control group), 50-100 ng/L (indeterminate post-SIT results group), and >100 ng/L (PA group).
Background: Implicit motor sequence learning (IMSL) is a cognitive function that allows us to execute multiple movements in a specific sequential order and plays a crucial role in our daily functional activities. Although the role of the basal ganglia network in IMSL is well-established, the exact involvement of the cerebellar network is less clear.
Aim: Here, we aimed to address this issue by investigating the effects of cerebellar transcranial direct-current stimulation (tDCS) on IMSL.
LC-ESI-MS/MS is a preferred method for detecting and identifying metabolites, including those that are unpredictable from the genome, especially in basal metazoans like Cnidaria, which diverged earlier than bilaterians and whose metabolism is poorly understood. However, the unexpected appearance of a "ghost peak" for dopamine, which exhibited the same m/z value and MS/MS product ion spectrum during an analysis of Nematostella vectensis, a model cnidarian, complicated its accurate identification. Understanding the mechanism by which "ghost peaks" appear is crucial to accurately identify the monoamine repertoire in early animals so as to avoid misassignments.
