P5334A 15-year follow-up of 315 patients with familial hypercholesterolemia from the North-West region of Russia

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
V Konstantinov ◽  
T Kuznetsova ◽  
V Korneva ◽  
M Serebrenitskaya
Keyword(s):  
Familial Hypercholesterolemia ◽  
Time Course ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
North West ◽  
Saint Petersburg ◽  
The North ◽  
West Region ◽  
Homozygous Patient

Abstract Familial hypercholesterolemia (FH) is one of the most common inherited diseases that lead to premature atherosclerosis and coronary heart disease (CHD). Aim of the study to ascertain genetic and environmental factors influencing the time course of FH during a 15-year follow-up in a large FH cohort from the North-West region of Russia. We screened more than 1ehz746.0302 high risk patients in order to reveal FH in Saint-Petersburg and Petrozavodsk using DLCN criteria. In most patients DNA analysis was also performed. Definite FH (≥8 according to DLCN) was found in 315 patients (221 - in Saint-Petersburg, 94 - in Petrozavodsk). These patients were followed-up for 15 years and more. CHD was more frequent in male patients, patients older than 60 years of age and was associated with higher levels of total cholesterol, LDL cholesterol, lower levels of HDL cholesterol, arterial hypertension, smoking and higher DLCN scoring. Patients without CHD had lowest LDL/HDL ratio (5.2±0.45) whereas patients with stable and progressive CHD had LDL/HDL ratio - 7.7±0.89 and 10.4±0.78, respectively (p≤0.05). Genetic study revealed only 1 homozygous patient and 1 patient with apoB-100 (FDP) gene mutation. Only 1 case of FH-North Karelia mutation that is typical for Finland was found in Petrozavodsk. Most of revealed mutations in LDL-receptor gene were unique i.e. found only in 1 family. This suggest the absence of a strong founder effect associated with FH in the North-West Region of Russia. Due to high heterogeneity of FH-causing mutations we failed to establish interrelations between type of LDL-receptor gene mutations and severity of atherosclerosis and CHD time course. 14% of FH patients didn't take any hypolipidemic medications at the onset of the follow-up, whereas 61% took statins and 25% statin + ezetimibe. Homozygous patient was treated both with statin, ezetimibe, evolocumab and LDL-apheresis. Nevertheless, 26% of the treated group didn't achieve the target LDL-C levels. It is interesting that 40% of patients who didn't reach LDL-goals were current smokers (compared with 5% of patients who reached LDL-goals). 33 patients (10.5%) died during the follow-up mostly due to cardiovascular complications. Death rates in FH patients were strongly associated with age, male sex, LDL/HDL ratio, smoking and effectiveness of hypolipidemic treatment. FH is strongly associated with high CHD risk; the time course of FH is much more favourable in females, in patients with low LDL/HDL ratio and free of other modifiable risk factors. Type of LDL-receptor gene mutation doesn't influence lipid levels or clinical manifestations of FH.

scholarly journals Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies

2020 ◽  
Vol 11 ◽  
Author(s):  
Vadim Vasilyev ◽  
Faina Zakharova ◽  
Tatiana Bogoslovskay ◽  
Mikhail Mandelshtam
Keyword(s):  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Low Density Lipoprotein ◽  
Genetic Research ◽  
Density Lipoprotein ◽  
Ethnic Origin ◽  
Genetic Studies ◽  
North West ◽  
Saint Petersburg ◽  
The North

The first studies of familial hypercholesterolemia (FH) in Russia go back to late 1980-ies. For more than 10 years the research in this field was carried out in Saint-Petersburg, the megapolis in the North-West Russia. Studies were focused on the search for causative mutations in low-density lipoprotein receptor gene (LDLR). Gradually the research was spread to Petrozavodsk in Karelia and in the XXI century two more centers contributed in investigations of genetics of FH, i.e., in Moscow and Novosibirsk. The best studied is the spectrum of mutations in LDLR, though genetic abnormalities in APOB and PCSK9 genes were also considered. Despite that some 40% mutations in LDLR found in Saint-Petersburg and Moscow are referred to as specific for Russian population, and this proportion is even higher in Karelia (ca. 70%), rapid introduction of NGS and intensifying genetic research all over the world result in continuous decrease of these numbers as “Slavic” mutations become documented in other countries. The samplings of genetically characterized patients in Russia were relatively small, which makes difficult to specify major mutations reflecting the national specificity of FH. Moreover, the majority of studies accomplished so far did not explore possible associations of certain mutations with ethnic origin of patients. By now the only exception is the study of Karelian population showing the absence of typical Finnish mutations in the region that borders on Finland. It can be concluded that the important primary research partly characterizing the mutation spectrum in FH patients both in the European and Siberian parts of Russia has been done. However, it seems likely that the most interesting and comprehensive genetic studies of FH in Russia, concerning various mutations in different genes and the variety of ethnic groups in this multi-national country, are still to be undertaken.

scholarly journals Familial Hypercholesterolemia: Three “under” (Understood, Underdiagnosed, and Undertreated) Disease

2021 ◽  
Author(s):  
Vladimir O. Konstantinov
Keyword(s):  
Familial Hypercholesterolemia ◽  
Time Course ◽  
Ldl Cholesterol ◽  
Genetic Disorders ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Hdl Cholesterol ◽  
Blood Cholesterol ◽  
Healthy Population ◽  
Loss Of Function

Familial hypercholesterolemia (FH) is one of the most prevalent genetic disorders leading to premature atherosclerosis and coronary heart disease. The main cause of FH is a mutation in the LDL-receptor gene that leads to loss of function of these receptors causing high levels of blood cholesterol. The diagnosis of FH is not very easy. Wide screenings are needed to reveal high levels of LDL cholesterol among “healthy” population. If the patient has MI or stroke at an early age, high levels of LDL cholesterol, and tendon xanthomas, the diagnosis of FH becomes much more clear. Genetic testing is a gold standard in the diagnosis of FH. There are several factors, influencing the time course of FH. Smoking males with low levels of HDL cholesterol have an extremely higher risk of death than nonsmoking females with high HDL cholesterol. Management of FH includes low cholesterol diet, statin and ezetimibe treatment, PCSK inhibitors, and LDL aphaeresis. Early and effective treatment influences much the prognosis in FH patients.

scholarly journals Clinical and epidemiological characteristics and outcomes of inflammatory bowel diseases according to 8-year follow-up in a cohort of patients in the North-West region

2019 ◽  
pp. 24-33
Author(s):  
I. V. Gubonina ◽  
V. B. Grinevich ◽  
E. I. Tkachenko ◽  
N. B. Volga ◽  
O. S. Sharap ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Inflammatory Bowel Diseases ◽  
North West ◽  
The North ◽  
West Region ◽  
Bowel Diseases ◽  
Inflammatory Bowel

The 8-year observation data of patients with ulcerative colitis and Crohn’s disease in the North West region are presented in the article. The patients were observed in the scientific and clinical center of Military Medical academy named after S. M. Kirov, specialized in the inflammatory bowel diseases (IBD). The aim of study is to assess the gender, age and clinical characteristics of patients with inflammatory bowel diseases, epidemiological features: factors of employment and place of residence, to study the outcomes of ulcerative colitis (UC) and Crohn’s disease (CD). Materials and methods. Retrospective analysis of 485 patient’s medical charts (373 patients with ulcerative colitis and 112 patients with Crohn’s disease) in the period from 2010 to 2018 was performed. Results. The onset of inflammatory bowel diseases is most common in the age group up to 40 years. The duration of the period before the diagnosis of ulcerative colitis and Crohn’s disease averaged 2.3 years. In UC the most frequent localization of the pathological process was left-side colon (51%), in CD - terminal ileitis (29%) and ileocolitis (27%). The anemia was the most frequent complication in both form of IBD, but structuring and penetrating complications were characteristic of CD. The most of patients (80.6%) had recurrent or continuous course of IBD. Small proportion of patients (19.4%) had sustained remission throughout the follow-up period. The frequency of surgical interventions in CD (27.6%) was comparable with the registers of the European study groups of IBD. In contrast, the frequency of colectomy in UC was significantly lower (0.8%) than in the published data of European countries, due to the predominance of mild and moderate forms of UC in the observed cohort. Mortality of patients with IBD was higher than in the General population of St. Petersburg due to the contribution of mortality from complicated forms of IBD (15.7%), while the structure of other causes of death was comparable to the General population

An Empirical Study of Human Trafficking Law in Cameroon: Victims Rarely Seek Justice and Traffickers Are Not Held Liable

2017 ◽  
Vol 25 (3) ◽  
pp. 430-441
Author(s):  
Monique Aziza
Keyword(s):  
Empirical Study ◽  
Primary School ◽  
Human Trafficking ◽  
Government Officials ◽  
North West ◽  
The North ◽  
West Region ◽  
Arduous Task ◽  
Adults And Children

This article argues that the number of unprosecuted human traffickers is growing in Cameroon. This article aims to examine Cameroonian government officials, prosecutors and judiciary attitudes to human trafficking laws, which endanger Cameroonians. This article is an empirical study of victims of human trafficking. It takes an objective look at Cameroon's anti-trafficking law that criminalises the trafficking of adults and children. It is evident that societal discrimination towards the North West region, lack of opportunities for free education or to a trade post-primary school and the lack of enforcement of the anti-trafficking law are making combating human trafficking an arduous task.

scholarly journals Credit Constraint and Rural Household Welfare in the Mezam Division of the North-West Region of Cameroon

2021 ◽  
Vol 13 (11) ◽  
pp. 5964
Author(s):  
Louis Atamja ◽  
Sungjoon Yoo
Keyword(s):  
Regression Model ◽  
Rural Household ◽  
Household Welfare ◽  
Switching Regression ◽  
Probit Regression ◽  
Credit Constraint ◽  
Endogenous Switching Regression ◽  
North West ◽  
The North ◽  
West Region

The purpose of this study is to examine the effect of the rural household’s head and household characteristics on credit accessibility. This study also seeks to investigate how credit constraint affects rural household welfare in the Mezam division of the North-West region of Cameroon. Using data from a household survey questionnaire, we found that 36.88% of the households were credit-constrained, while 63.13% were unconstrained. A probit regression model was used to examine the determinants of households’ credit access, while an endogenous switching regression model was used to analyze the impact of credit constraint on household welfare. The results from the probit regression model indicate the importance of the farmer’s or trader’s organization membership, occupation, and savings to the household’s likelihood of being credit-constrained. On the other hand, a prediction from the endogenous switching regression model confirms that households with access to credit have a better standard of welfare than a constrained household. From the results, it is necessary for the government to subsidize microfinance institutions, so that they can take on the risk of offering credit to rural households.

PARTY POLITICS AND INTRA-ETHNIC CONFLICTS IN THE NKAMBE CENTRAL SUBDIVISION OF CAMEROON IN THE 2013 LEGISLATIVE ELECTION

2021 ◽  
Vol 9 (1) ◽  
pp. 199-213
Author(s):  
Ransom Tanyu Ngenge
Keyword(s):  
Party Politics ◽  
Ethnic Relations ◽  
Local Elections ◽  
Ethnic Conflicts ◽  
North West ◽  
The North ◽  
West Region ◽  
Good Number ◽  
Western Democracies ◽  
Legislative Election

Political deception is inherently ‘conflictual’ not only in the Western Democracies but also and even more so in Africa. Conflicts of political nature have often resulted from national and local elections in Africa and Cameroon. Prominently, such conflicts sometimes take an ethnic twist with far-reaching consequences. From this background, this article investigates into the forms and nature of intra-ethnic conflicts in the Nkambe Central Subdivision of Cameroon during the 2013 legislative election. With a combination of interviews and personal observations, including a good number of secondary/tertiary source-material, the article which is analyzed in thematic synthesis reveals that during the 2013 legislative election in the Nkambe Central Subdivision of the North West region of Cameroon, conflicts of clan-based, family and age-set nature emanated with far-reaching consequences on ethnic relations and development.

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