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Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition
Genet Mol Biol. 2021 Aug 6;44(3):e20200332. doi: 10.1590/1678-4685-GMB-2020-0332. eCollection 2021.ABSTRACTTwo Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a spontaneous chromosomal instability significantly higher than controls. Revisiting after time their clinical phenotype, the suggestive matching with the autosomal dominant syndrome Poikiloderma, Hereditary Fibrosing with Tendon Contracture, Myopathy and Pulmonary fibrosis (POIKTMP) was confirmed by identification of the c.1879A>G (p.Arg627Gly) alteration in ...
Source: Mol Biol Cell - August 6, 2021 Category: Molecular Biology Authors: Gaia Roversi Elisa Adele Colombo Ivana Magnani Cristina Gervasini Giuseppe Maggiore Mauro Paradisi Lidia Larizza Source Type: research

Corticospinal Tract Integrity and Long-Term Hand Function Prognosis in Patients With Stroke
Conclusions: The present study showed that CST integrity (at 6 months after onset) in patients with chronic stroke was related to functional hand status. In addition, the mid-pons FA value was more predictive of functional restoration of the hand than the FN or FA value at the pontomedullary junction. These results may be useful in predicting the functional restoration of the hand and understanding the functional prognosis of stroke. Introduction Restoration of hand function is one of the most important goals for patients with stroke (1). Thus, techniques that aid in predicting restoration of hand function are also i...
Source: Frontiers in Neurology - April 14, 2019 Category: Neurology Source Type: research