Aortopathies in Turner syndrome — new strategies for evaluation and treatment

Turner syndrome is a rare genetic disorder which impairs women’s growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta.Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed. Zespół Turnera jest rzadko spotykanym schorzeniem o podłożu genetycznym u kobiet, u których występują między innymi zaburzenia wzrastania, płodności oraz zaburzenia w rozwoju układu sercowo-naczyniowego. Obecnie uważa się, że zespół Turnera jest niezależnym czynnikiem ryzyka rozwoju chorób układu sercowo-naczyniowego. Pomimo istotnego ryzyka rozwoju powikłań, które mogą nawet zagrażać życiu młodych pacjentek, wiele z nich odsyłanych jest do domu bez pogłębionej diagnostyki w kierunku zaburzeń w układzie sercowo-naczyniowym. Należy zauważyć, że chociaż wymiary aorty wstępującej są u wielu pacjentek obarczonych zespołem Turnera prawidłowe, to po uwzględnieniu rzeczywistych wymiarów ciała pacjentki można stwierdzić, że u części z nich aorta jest poszerzona. Opublikowane ostatnio wyniki badań oraz zalecenia kliniczne wskazują na przydatność rezonansu magnetycznego (MRI, magnetic resonance imaging) w diagnostyce zmian organicznych aorty. W publikacji omówiono także nowe możliwości terapeutyczne w przypadku występowania zmian w aorcie, co mogłoby usprawnić leczenie pacjentek z zespołem Turnera. W dziedzinie diagnostyki i leczenia tego zaburzenia genetycznego istnieje jednak nadal wiele nierozwiązanych zagadnień, dlatego też konieczne jest prowadzenie dalszych badań, także o charakterze prospektywnym

Effect of ginkgo extract on eye microcirculation in patients with diabetes

Funding Information: This research is a part of international “Eureka“ project „Creation of the methodology for effects of natural antioxidants on the development of the Diabetes mellitus complications“ financially supported by the European Social Fund Agency, Lithuania according to the “Human Resource Development Action Program”, project No. VP1-3.1-SMM-06-V-01-003. Also we would like to thank Laboratory of Biochemistry of Riga Stradins University, Latvia for performing biochemical tests of blood plasma and for the residents of Endocrinological Clinic, Hospital of Lithuanian University of Health Sciences Kaunas Clinics, Lithuania for the help. Provision of capsules of Ex.Gb from “Aconitum” and placebo capsules from “Sanitas” is appreciated too.The prevalence of Diabetes mellitus has increased around the world in the last decade. Anyone with diabetes is at risk of diabetic eye complications. The aim of the study was to compare effects of standardized Ginkgo biloba (Ginkgo biloba L.) dry extract (Ex.Gb) with the placebo on the microcirculation lesions of the eye in randomized double-blind placebo-controlled trial. 44 patients with type 2 diabetes mellitus were randomized to Ex.Gb 160 mg per day or placebo, and were followed up for nine months. Dose of Ex.Gb was increased to 240 mg in next nine months. Total Antioxidant Status (TAS) of plasma was measured using the Trolox equivalent antioxidant capacity assay. Ophthalmologic examination was performed by the biomicroscopic method. Vascular, intravascular and perivascular alterations were evaluated, and total conjunctival index was calculated. Though the values of the total conjunctival index and its constituent decreased (P<0.05) during the study in Ex.Gb group, there were no significant differences between these parameters as compared with placebo group. Evaluation of plasma TAS showed gradually increment, although insignificant and very small, in Ex.Gb group. The significance of Ex.Gb on development of the alterations of eye microcirculation, especially in elder patients needs to be explored further.publishersversionPeer reviewe

The prevalence of type 1 diabetes mellitus among adolescents and adults in Lithuania during 1991–2004

Objective. The goal of this study was to summarize the data on the prevalence of type 1 diabetes mellitus among Lithuanian population aged more than 15 years. Material and methods. The data on patients aged more than 16 years were collected with the help of general practitioners, endocrinologists, and physicians-internists working in the diabetes care in all towns and regions of Lithuania. The data on patients aged 14 to 16 years were obtained from the National Register of Diabetes Mellitus in Childhood in Lithuania. Results. In Lithuania, on December 31, 1991, there were 2179 adolescent and adult patients with type 1 diabetes mellitus or 75.21 per 100 000 inhabitants of the same age group (95% Poisson CI 72.12–78.43), and at the end of 2004 – 3996 or 140.69 (95% Poisson CI 136.40– 145.12), respectively. During a 14-year period, the mean increase in the number of type 1 diabetic patients was 144.85±23.32 persons per year or 4.66±1.17% or 4.04±1.19 cases per 100 000 population (for males 85.54±10.82 or 5.06±1.02% or 6.81±1.57/100 000 and for females 54.23±9.05 or 3.93±0.86% or 3.56±1.05/100 000). Regression-based linear trends showed that the prevalence of type 1 diabetes mellitus among population aged more than 15 years had a tendency to increase. The prevalence rates of type 1 diabetes mellitus among adolescent and adult subjects, adjusted for Lithuanian male and female age groups, were 80.64/100 000 and 70.23/100 000 in 1991 (P&lt;0.05) and 166.52 and 117.63 in 2004 (P&lt;0.05), respectively. Conclusions. The prevalence of type 1 diabetes mellitus among Lithuanian females aged more than 15 years was lower than among males. The register provides the possibility of highly precise collection of the data on patients from various medical care units in Lithuania

Pirmojo tipo cukrinio diabeto paplitimas tarp paauglių ir suaugusių Lietuvos gyventojų 1991–2004 metais

Objective. The goal of this study was to summarize the data on the prevalence of type 1 diabetes mellitus among Lithuanian population aged more than 15 years. Material and methods. The data on patients aged more than 16 years were collected with the help of general practitioners, endocrinologists, and physicians-internists working in the diabetes care in all towns and regions of Lithuania. The data on patients aged 14 to 16 years were obtained from the National Register of Diabetes Mellitus in Childhood in Lithuania. Results. In Lithuania, on December 31, 1991, there were 2179 adolescent and adult patients with type 1 diabetes mellitus or 75.21 per 100 000 inhabitants of the same age group (95% Poisson CI 72.12–78.43), and at the end of 2004 – 3996 or 140.69 (95% Poisson CI 136.40– 145.12), respectively. During a 14-year period, the mean increase in the number of type 1 diabetic patients was 144.85±23.32 persons per year or 4.66±1.17% or 4.04±1.19 cases per 100 000 population (for males 85.54±10.82 or 5.06±1.02% or 6.81±1.57/100 000 and for females 54.23±9.05 or 3.93±0.86% or 3.56±1.05/100 000). Regression-based linear trends showed that the prevalence of type 1 diabetes mellitus among population aged more than 15 years had a tendency to increase. The prevalence rates of type 1 diabetes mellitus among adolescent and adult subjects, adjusted for Lithuanian male and female age groups, were 80.64/100 000 and 70.23/100 000 in 1991 (P<0.05) and 166.52 and 117.63 in 2004 (P<0.05), respectively. Conclusions. The prevalence of type 1 diabetes mellitus among Lithuanian females aged more than 15 years was lower than among males. The register provides the possibility of highly precise collection of the data on patients from various medical care units in Lithuania

Coffee consumption and type 2 diabetes mellitus

The aim of the study was to determine the association between coffee consumption and the risk of type 2 diabetes mellitus. Material and methods. A case-control study included 234 cases with newly confirmed diagnosis of type 2 diabetes mellitus and 468 controls who were free of the disease in 2001. Cases and controls were matched by gender and age (±5 years). Data on age, education level, occupation status, marital status, family history of diabetes, lifestyle (dietary habits, smoking habits, coffee consumption, alcohol consumption, physical activity), and stress were collected via a questionnaire. Variables were retained in models as confounders when their inclusion changed the value of the OR by more than 10% in any exposure category. Conditional logistic regression to compute the odds ratio (OR), 95% confidence interval (CI), and P for trend was used. Results. After adjustment for possible confounders (family history of diabetes, body mass index, eating speed, morning exercise, cigarette smoking, years of education, and stress), a statistically significant relationship was observed between type 2 diabetes mellitus and coffee consumption. Individuals consuming four or more cups of coffee per day were at lower risk of 2 diabetes mellitus (OR=0.51; 95% CI, 0.27–0.97) compared to those who consumed one or less than one cup of coffee per day. Conclusion. Habitual coffee consumption of four or more cups per day might be related to the lower risk of type 2 diabetes mellitus

Adding Salt to Meals as a Risk Factor of Type 2 Diabetes Mellitus: A Case–Control Study

OBJECTIVE: Type 2 diabetes mellitus (T2DM) is thought to arise from the complex interplay between genetic and environmental factors. It is important to identify modifiable risk factors that may help to reduce the risk of diabetes. Data on salt intake and the risk of type 2 diabetes are limited. The aim of this study was to assess the relationship between adding salt to prepared meals and the risk of type 2 diabetes. METHODS: In a case–control study, we included 234 cases, all of whom were patients aged 35–86 years with a newly confirmed diagnosis of T2DM, and 468 controls that were free of the disease. Cases and controls (ratio 1:2) were matched by gender and age (±5 years). A questionnaire was used to collect information on possible risk factors for diabetes. Adding salt to prepared meals was assessed according to: Never, when there was not enough, or almost every time without tasting. The odds ratios (OR), and 95% confidence intervals (CI) for type 2 diabetes was calculated using a conditional logistic regression. Results: The cases had a higher body mass index and a significantly lower education level compared to the controls. Variables such as waist circumference, body mass index, eating speed, smoking, family history of diabetes, arterial hypertension, plasma triglycerides, educational level, occupational status, morning exercise, marital status, daily urine sodium excretion, and daily energy intake were retained in the models as confounders. After adjusting for possible confounders, an approximately two-fold increased risk of type 2 diabetes was determined in subjects who add salt to prepared meals when “it is not enough” or “almost every time without tasting” (1.82; 95% CI 1.19–2.78; p = 0.006) compared with never adding salt. CONCLUSION: Presented data suggest the possible relationship between additional adding of salt to prepared meals and an increased risk of type 2 diabetes

The incidence of type 1 diabetes mellitus among 15-34 years aged Lithuanian population: 18-year incidence study based on prospective databases

Abstract Background The aim of this prospective study was to determine the incidence of type 1 diabetes mellitus in 15-34-year-aged Lithuanian males and females during 1991 - 2008 Methods A contact system with general practitioners covering 100% of the 15-34-year-aged Lithuanian population was the primary data source. Reports from regional endocrinologists and statistical note-marks of State patient insurance fund served as secondary sources for case ascertainment. Results The average age-standardized incidence rate was 8.30 per 100,000 persons per year (95% Poisson distribution confidence interval [CI] 7.90-8.71) during 1991 - 2008 and was statistically significantly higher among males (10.44 per 100,000 persons per year, 95% CI 9.82-11.10) in comparison with females (6.10 per 100,000, 95% CI 5.62-6.62). Male/female rate ratio was 1.71 (95% CI 1.63-1.80). Results of the linear 1991 - 2008 regression model showed that the incidence of Type 1 diabetes in 15-34-year-aged males and females decreased slightly over the time (r = -0.215, p > 0.05). Conclusions Our data demonstrated the male predominance in primary incidence of type 1 diabetes mellitus in 15-34-year-aged population in Lithuania. The incidence of type 1 diabetes mellitus in 15-34-year-aged males and females decreased slightly during 1991-2008.</p

The impact of FSH receptor polymorphism on time-to-pregnancy: a cross-sectional single-centre study

Abstract Background Single nucleotide polymorphism of the follicle-stimulating hormone (FSH) receptor (FSHR) is an important marker of ovarian function. However, its role in female fecundity remains debatable. The aim of the study to assess the relationship of FSHR polymorphism of Serine/Serine, Asparagine/Asparagine and Asparagine/Serine variants directly against the time-to-pregnancy (TTP) in women. Methods Data were collected from 291 consecutive selected post-partum Caucasians using this criterion: ethnicity, age between 21 and 34-year-old new mothers and, 0–3 days after delivery of newborns in the Klaipeda University Hospital, Lithuania. Questionnaires on factors associated with conception were given to patients, and blood samples were collected for genomic DNA extractions as well as for analysis of follicle-stimulating hormone receptor gene polymorphism. Odds ratios (OR) and 95% confidence intervals (CI) for time-to-pregnancy were estimated by multivariate logistic regression. Women with unplanned pregnancies and those who received assisted reproductive technologies were not included in the study. Results After adjustment for other possible factors, increased risk for time-to-pregnancy of 12 or more months was associated with: Serine/Serine polymorphism variant (OR = 1.38, 95% CI 1.56–2.71, p = 0.007), age of 30 or more years (OR = 1.95, 95% CI 1.25–2.71, p = 0.015), gynaecological diseases in the past (OR = 2.21, 95% CI 1.12–5.74, p = 0.027), prior contraception use (OR = 1.87, 95% CI 1.14–3.64, p = 0.016), and fertility problems in the past (OR = 1.57, 95% CI 1.16–4.76, p = 0.019). Conclusion The results suggest a possible relationship of FSH receptor gene Serine/Serine variant for the lower possibility of conception during the first 12 months of planned conception