Since half of the expressed RhAG in OHSt most probably corresponds to the mutated form of RhAG, as expected from the OHSt heterozygous status, this dramatic decrease can be therefore related to the loss of function of the Phe65Ser-mutated RhAG monomer.
Since half of the expressed RhAG in OHSt most probably corresponds to the mutated form of RhAG, as expected from the OHSt heterozygous status, this dramatic decrease can be therefore related to the loss of function of the Phe65Ser-mutated RhAG monomer.
DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser).
DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser).
We performed a pre-specified secondary analysis of the largest multicenter randomized controlled trial of obesity hypoventilation syndrome (Pickwick project, n=221 patient with OHS and coexistent severe obstructive sleep apnea) to determine the comparative effectiveness of 3 years of NIV and CPAP on structural and functional echocardiographic changes.
We performed a secondary analysis of the data from the largest multicentre randomised controlled trial of OHS (Pickwick project, n=221) to determine the comparative efficacy of 2 months of NIV (n=71), CPAP (n=80) and lifestyle modification (control group, n=70) on structural and functional echocardiographic changes.
Magnetic-activated cell separation studies, using beads to which an anti-transferrin receptor antibody was conjugated, confirmed that in OHSt there was a correspondence between expression of stomatin and the transferrin receptor.
The cause of overhydrated hereditary stomatocytosis remains elusive despite the manifest lack of the enigmatic protein stomatin in the erythrocyte membrane.
This novel erythrocyte trait, sharing features with both hereditary spherocytosis and overhydrated hereditary stomatocytosis, complements the clinical features associated with loss-of-function mutations of <i>PIEZO1</i> in the context of the generalized lymphatic dysplasia of LMPH3 type.
We found that circulating exosomes contributed to the induction and propagation of OSA/OHS-related endothelial dysfunction (ie, increased permeability and disruption of tight junctions along with increased adhesion molecule expression, and reduced endothelial nitric oxide synthase expression), and promoted increased monocyte adherence.
There were no differences between the OHS patients with PH and those with normal PAP in terms of age, BMI, presenting symptoms, comorbidities, arterial blood gasses (ABG), and spirometric and PSG parameters.
There were no differences between the OHS patients with PH and those with normal PAP in terms of age, BMI, presenting symptoms, comorbidities, arterial blood gasses (ABG), and spirometric and PSG parameters.
There were no differences between the OHS patients with PH and those with normal PAP in terms of age, BMI, presenting symptoms, comorbidities, arterial blood gasses (ABG), and spirometric and PSG parameters.
There were no differences between the OHS patients with PH and those with normal PAP in terms of age, BMI, presenting symptoms, comorbidities, arterial blood gasses (ABG), and spirometric and PSG parameters.
There were no differences between the OHS patients with PH and those with normal PAP in terms of age, BMI, presenting symptoms, comorbidities, arterial blood gasses (ABG), and spirometric and PSG parameters.
There were no differences between the OHS patients with PH and those with normal PAP in terms of age, BMI, presenting symptoms, comorbidities, arterial blood gasses (ABG), and spirometric and PSG parameters.