| 1. |
- Schiava, M., et al.
(författare)
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
- 2022
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Ingår i: Journal of Neurology Neurosurgery and Psychiatry. - : BMJ. - 0022-3050 .- 1468-330X. ; 93:10, s. 1099-1111
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Tidskriftsartikel (refereegranskat)abstract
- Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. Methods Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. Results Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8 +/- 9.6 years and mean age of onset 45.6 +/- 9.3 years. Mean diagnostic delay was 7.7 +/- 6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8 +/- 7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC Conclusion This study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease.
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| 2. |
- Peker, Yüksel, 1961, et al.
(författare)
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Effect of High-Risk Obstructive Sleep Apnea on Clinical Outcomes in Adults with Coronavirus Disease 2019 A Multicenter, Prospective, Observational Clinical Trial
- 2021
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Ingår i: Annals of the American Thoracic Society. - 1546-3222. ; 18:9, s. 1548-1559
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Tidskriftsartikel (refereegranskat)abstract
- Rationale: Coronavirus disease (COVID-19) is an ongoing pandemic, in which obesity, hypertension, and diabetes have been linked to poor outcomes. Obstructive sleep apnea (OSA) is associated with these conditions and may influence the prognosis of adults with COVID-19. Objectives: To determine the effect of OSA on clinical outcomes in patients with COVID-19. Methods: The current prospective observational study was conducted in three hospitals in Istanbul, Turkey from March 10 to June 22, 2020. The participants were categorized as high-risk or low-risk OSA according to the Berlin questionnaire that was administered in the out-patient clinic, in hospital, or shortly after discharge from hospital blinded to the clinical outcomes. A modified high-risk (mHR)-OSA score based on the snoring patterns (intensity and/or frequency), breathing pauses, and morning/daytime sleepiness, without taking obesity and hypertension into account, were used in the regression models. Results: The primary outcome was the clinical improvement defined as a decline of two categories from admission on a 7-category ordinal scale that ranges from 1 (discharged with normal activity) to 7 (death) on Days 7, 14, 21, and 28, respectively. Secondary outcomes included clinical worsening (an increase of 1 category), need for hospitalization, supplemental oxygen, and intensive care. In total, 320 eligible patients (median [interquartile range] age, 53.2 [41.3-63.0] yr; 45.9% female) were enrolled. In all, 121 (37.8%) were categorized as known (n = 3) or high-risk OSA (n = 118). According to the modified scoring, 70 (21.9%) had mHR-OSA. Among 242 patients requiring hospitalization, clinical improvement within 2 weeks occurred in 75.4% of the mHR-OSA group compared with 88.4% of the modified low-risk-OSA group (P = 0.014). In multivariate regression analyses, mHR-OSA (adjusted odds ratio [OR], 0.42; 95% confidence interval [CI], 0.19-0.92) and male sex (OR, 0.39; 95% CI, 0.17-0.86) predicted the delayed clinical improvement. In the entire study population (n = 320), including the nonhospitalized patients, mHR-OSA was associated with clinical worsening (adjusted hazard ratio, 1.55; 95% CI, 1.00-2.39) and with the need for supplemental oxygen (OR, 1.95; 95% CI, 1.06-3.59). Snoring patterns, especially louder snoring, significantly predicted delayed clinical improvement, worsening, need for hospitalization, supplemental oxygen, and intensive care. Conclusions: Adults with mHR-OSA in our COVID-19 cohort had poorer clinical outcomes than those with modified low-risk OSA independent of age, sex, and comorbidities.
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| 3. |
- Cetin, S., et al.
(författare)
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Increased coronary intervention rate among diabetic patients with poor glycaemic control: A cross-sectional study
- 2014
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Ingår i: Bosnian Journal of Basic Medical Sciences. - 1512-8601. ; 14:1, s. 16-20
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Tidskriftsartikel (refereegranskat)abstract
- The relationship between glycaemic control and coronary artery disease (CAD) in type 2 diabetes mellitus (T2DM) is controversial. In the current cross-sectional study, we addressed the relationship between Hemoglobin A1c (HbAlc) values and the need for revascularization among diabetic patients undergoing coronary angiography. A total of 301 consecutive patients with known T2DM (age 61.8 +/- 10.1 years, 46.2 % women) requiring coronary angiography due to CAD symptoms were included. T2DM patients were categorized into two groups based on their HbAlc values: 93 (30.9%) diabetics with good glycaemid control (HbA1c <= 7 %), and 208 (69.1%) diabetics with poor glycaemic control (HbA1c>7 %). A total of 123 patients (40.9%) required revascularization. The revascularization rate was 28.0% among T2DM patients with good glycaemic control and 46.6% among T2DM patients with poor glycaemic control, respectively (p=0.002). In a logistic regression analysis, the need for revascularization was predicted by poor glycaemic control (Odds Ratio [OR] 2.26, 95% Confidence Interval [Cl] 1.32-3.82; p=0.003) adjusted for age, gender, Body-Mass-Index and diabetes duration. Moreover, there was a linear relationship between HbA1c values and number of affected coronary arteries (r= 0.169;p=0.003). Our data suggest that there is a close association between poor glycaemic control and increased revascularization rate in T2DM, which should be considered in primary and secondary prevention models. (c) 2014 Association of Basic Medical Sciences of FB&H. All rights reserved
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