scholarly journals Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

2020 ◽  
Author(s):  
Ines Gómez-Acebo ◽  
Sara Rodríguez Prado ◽  
Angel De la Mora ◽  
Roberto Zarrabeitia Puente ◽  
Beatriz de la Roza Varela ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Clinical Characteristics ◽  
Cross Sectional Study ◽  
Ocular Involvement ◽  
Sectional Study ◽  
Cross Sectional ◽  
Reference Centre ◽  
Ocular Lesions ◽  
Eye Lesions

Abstract Background The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.Methods A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or characteristics of HHT and ocular lesions were estimated using logistic regression adjusting for age and sex.Results The ocular involvement was associated with being a carrier of a mutation for the ENG gene, that is, suffering from a type 1 HHT involvement (OR = 2.09; 95% CI [1.17-3.72]). p = 0.012). In contrast, patients with ocular lesions have less frequently mutated ACVRL1/ALK1 gene (OR = 0.52; 95% CI [0.30- 3.88], p = 0.022). Conclusions In conclusion, half of the patients with HHT in our study have ocular involvement. These eye lesions are associated with mutations in the ENG gene and ACVRL1/ALK1 gene. Thus, the ENG gene increases the risk of ocular lesions, while being a carrier of the mutated ACVRL1/ALK1 gene decreases said risk.

scholarly journals Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

2020 ◽  
Author(s):  
Ines Gómez-Acebo ◽  
Sara Rodríguez Prado ◽  
Angel De la Mora ◽  
Roberto Zarrabeitia Puente ◽  
Beatriz de la Roza Varela ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Clinical Characteristics ◽  
Cross Sectional Study ◽  
Ocular Involvement ◽  
Sectional Study ◽  
Cross Sectional ◽  
Reference Centre ◽  
Ocular Lesions ◽  
Eye Lesions

Abstract Background The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.Methods A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or characteristics of HHT and ocular lesions were estimated using logistic regression adjusting for age and sex.Results The ocular involvement was associated with being a carrier of a mutation for the ENG gene, that is, suffering from a type 1 HHT involvement (OR = 2.09; 95% CI [1.17-3.72]). p = 0.012). In contrast, patients with ocular lesions have less frequently mutated ACVRL1/ALK1 gene (OR = 0.52; 95% CI [0.30- 3.88], p = 0.022).Conclusions In conclusion, half of the patients with HHT in our study have ocular involvement. These eye lesions are associated with mutations in the ENG gene and ACVRL1/ALK1 gene. Thus, the ENG gene increases the risk of ocular lesions, while being a carrier of the mutated ACVRL1/ALK1 gene decreases said risk.

scholarly journals Glycemic control associated factors in type 1 diabetes mellitus patients: a cross sectional study

2015 ◽  
Vol 7 (S1) ◽  
Author(s):  
Patrícia Ramos Guzatti ◽  
Amely PS Balthazar ◽  
Maria Heloisa Busi da Silva Canalli ◽  
Thais Fagnani Machado
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Glycemic Control ◽  
Type 1 Diabetes Mellitus ◽  
Associated Factors ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional

Pain, psychoaffective symptoms, and quality of life in human T cell lymphotropic virus type 1 (HTLV-1): a cross-sectional study

2021 ◽  
Author(s):  
Dislene Nascimento dos Santos ◽  
Katia Nunes Sá ◽  
Fernanda C. Queirós ◽  
Alaí Barbosa Paixão ◽  
Kionna Oliveira Bernardes Santos ◽  
...  
Keyword(s):  
Quality Of Life ◽  
T Cell ◽  
Virus Type ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Human T Cell

scholarly journals Insulin micro-secretion in Type 1 diabetes and related microRNA profiles

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Andrzej S. Januszewski ◽  
Yoon Hi Cho ◽  
Mugdha V. Joglekar ◽  
Ryan J. Farr ◽  
Emma S. Scott ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Cross Sectional Study ◽  
Diabetes Duration ◽  
Adult Onset ◽  
Sectional Study ◽  
Childhood Onset ◽  
Cross Sectional ◽  
C Peptide ◽  
Adult Onset Diabetes

AbstractThe aim of this cross-sectional study was to compare plasma C-peptide presence and levels in people without diabetes (CON) and with Type 1 diabetes and relate C-peptide status to clinical factors. In a subset we evaluated 50 microRNAs (miRs) previously implicated in beta-cell death and associations with clinical status and C-peptide levels. Diabetes age of onset was stratified as adult (≥ 18 y.o) or childhood (< 18 y.o.), and diabetes duration was stratified as ≤ 10 years, 10–20 years and > 20 years. Plasma C-peptide was measured by ultrasensitive ELISA. Plasma miRs were quantified using TaqMan probe-primer mix on an OpenArray platform. C-peptide was detectable in 55.3% of (n = 349) people with diabetes, including 64.1% of adults and 34.0% of youth with diabetes, p < 0.0001 and in all (n = 253) participants without diabetes (CON). C-peptide levels, when detectable, were lower in the individuals with diabetes than in the CON group [median lower quartile (LQ)–upper quartile (UQ)] 5.0 (2.6–28.7) versus 650.9 (401.2–732.4) pmol/L respectively, p < 0.0001 and lower in childhood versus adult-onset diabetes [median (LQ–UQ) 4.2 (2.6–12.2) pmol/L vs. 8.0 (2.3–80.5) pmol/L, p = 0.02, respectively]. In the childhood-onset group more people with longer diabetes duration (> 20 years) had detectable C-peptide (60%) than in those with shorter diabetes duration (39%, p for trend < 0.05). Nine miRs significantly correlated with detectable C-peptide levels in people with diabetes and 16 miRs correlated with C-peptide levels in CON. Our cross-sectional study results are supportive of (a) greater beta-cell function loss in younger onset Type 1 diabetes; (b) persistent insulin secretion in adult-onset diabetes and possibly regenerative secretion in childhood-onset long diabetes duration; and (c) relationships of C-peptide levels with circulating miRs. Confirmatory clinical studies and related basic science studies are merited.

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