scholarly journals Familial homozygous hypercholesterolemia in children: early diagnosis and treatment

2021 ◽  
Vol 66 (4) ◽  
pp. 118-128
Author(s):  
I. V. Leontyeva
Keyword(s):  
Low Density Lipoprotein ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Density Lipoprotein ◽  
Vascular Lesions ◽  
Late Initiation ◽  
Life Threatening ◽  
Initiation Of Therapy ◽  
High Level ◽  
Familial Homozygous Hypercholesterolemia

Familial homozygous hypercholesterolemia is a rare life-threatening disease, the prevalence is 1: 160,000-1: 320,000. The main manifestation of the disease is an extremely high level of low-density lipoprotein cholesterol (more than 13 mmol / l), which causes early atherosclerotic vascular lesions, including coronary arteries, starting from the first decade of life, and can lead to myocardial infarction in childhood. Familial homozygous hypercholesterolemia remains a little-known disease in the clinical practice of the pediatrician; it leads to delayed diagnosis and late initiation of therapy. The most common cause of the disease is mutations in the LDLR (90%) gene, less often in the APOB (5–10%), PCSK9 (1%), LDLRAP1 (1%) genes. The article presents the criteria for the diagnosis of familial homozygous hypercholesterolemia in children. The authors discuss clinical manifestations on the skin and at the level of the cardiovascular system, eyes. They present the strategy of management and the possibilities of treating patients. The paper presents the indications for the appointment and the effectiveness of statins, ezetrol, monoclonal antibodies to PCSK9, apheresis for the treatment of the disease. It discusses prospects for further therapy.

Identifying the prevalence of undiagnosed cardiovascular disease risk factors in healthy Indians

2021 ◽  
Vol 28 (Supplement_1) ◽  
Author(s):  
S Thanvi ◽  
P Thakkar
Keyword(s):  
Risk Factors ◽  
Heart Attack ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Healthy Individuals ◽  
Cvd Risk Factors ◽  
Cvd Risk ◽  
Health Checkup ◽  
Study Population ◽  
High Level

Abstract Funding Acknowledgements Type of funding sources: None. Introduction   Cardiovascular disease (CVD) including heart disease and stroke, is the leading cause of death globally and in India.  The importance of primary prevention, defined as interventions designed to modify adverse risk factors with the goal of preventing an initial CVD event has been established beyond doubt by several population based studies in healthy individuals. While there have been many studies defining the high prevalence in CVD risk factors in Indian population, this study sought to determine the prevalence of undiagnosed modifiable CVD risk factors in healthy individuals.  Methods The  cross sectional, analytical study was carried out at the hospitals, from 1st April 2015 to 31st dec 2017. Subjects between 18 - 70 years of age who were healthy and were undergoing health checkup were included in the study. A total of 5000 patients were screened, those having existing CVD risk factors were excluded from the study.  This study was approved by the institutional ethics committee of the hospital. Written informed consent was obtained from all subjects. The data collection record sheet was prepared based on validated and standardized questionnaires which was used to enter all data.  Physical examination for vitals and BMI was done by qualified physicians. Blood investigations were done for diabetes and dyslipidemia and thyroid dysfunction. ACC/AHA criteria was used for diagnosis of  hypertension, ADA criteria for diabetes. Joint British society 3 risk score and ASCVD risk score was calculated using standard calculators. Results At screening, 4998 participants aged ≥18 years were approached to participate in study. The study population included 2705 men (68.1%) and 1265 women (31.9%) with a mean age of 68± 18.8 years. The most prevalent risk factor was overweight and obesity (71.2%). The prevalence of undiagnosed HTN was 73.3%, undiagnosed pre-diabetes was 24.9% and undiagnosed diabetes was 28.3%. Out of total, 44.3% subjects had high level of low-density lipoprotein and 36.6% subjects had low level of high-density lipoprotein, 20.1% subjects had high level of very-low density lipoprotein (VLDL) and 17.3% subjects had high level of triglyceride. Tobacco smoking was present in 7.7% of the population. The risk estimation predicted 29.1% of the study participants to have more than 10% risk of heart attack/stroke risk at 10 years. Conclusion Our study reveals a fairly good snapshot of CVDs risk factors in healthy general population. Increased prevalence of high BMI, undiagnosed HTN, diabetes, dyslipidemia was present in our study population.  The population had significantly high predicted risk of heart attack/stroke. These findings warrant the need of community based life style modifications, regular health checkup for healthy population for early detection and modification of CVD risk factors.

Abstract P249: Effects of Lifestyle Changes on Metabolism and Early Vascular Lesion in Healthy People

Hypertension ◽  
2017 ◽  
Vol 70 (suppl_1) ◽  
Author(s):  
Xu Fengcheng ◽  
Yu Chaoping ◽  
Liu Tianhu
Keyword(s):  
Healthy Lifestyle ◽  
Low Density Lipoprotein ◽  
Fasting Blood Glucose ◽  
Ankle Brachial Index ◽  
Density Lipoprotein ◽  
Vascular Lesion ◽  
Lifestyle Changes ◽  
Healthy People ◽  
Vascular Lesions ◽  
Before And After

Objective: Through propaganda and education on lifestyle change, we study the effects on metabolism and vascular lesions in healthy people. Methods: the healthy subjects that conform to the requirements, through propaganda and education on vascular health, through moderate exercise, proper control of starchy foods, low salt, low fat diet, reduce smoking and other lifestyle changes, compare changes in weight, renal function, fasting blood glucose, blood lipids and ankle brachial index (ABI), cardio ankle vascular index(CAVI) before and after lifestyle changes. Results: After lifestyle changed, the subjects’ body mass index [(23.13±3.18)kg/m 2 vs (22.67±3.36)kg/m 2 ], ABI[1.11±0.08 vs 1.09±0.09], CAVI[(7.14±1.13 ) vs (7. 01±1.18) ], serum creatinine[(84.31±22.41)umol/L vs (79.92±23.64)umol/L], blood uric acid[(337.79±102.17 )umol/L vs (328.12±88.33)umol/L], low density lipoprotein cholesterol[(2.49±0.65) mmol/L vs (2.37±0.69) mmol/L],all have good changes. Conclusion: Healthy lifestyle is good for metabolism and early vascular lesions, can improve metabolic disorder and slow the occurrence of arteriosclerosis.

scholarly journals Severe hypertriglycerdemia in pregnancy

2021 ◽  
Vol 4 (1) ◽  
pp. 019-019
Author(s):  
Muralidhara Krithika ◽  
Dhareshwar Shashank
Keyword(s):  
Low Density Lipoprotein ◽  
Elevated Serum ◽  
Density Lipoprotein ◽  
Good Health ◽  
Glycerol Phosphate ◽  
Serum Triglycerides ◽  
Serum Lipase ◽  
Threatening Condition ◽  
Life Threatening ◽  
Membrane Plasma Separation

31 year old female presented with abdominal pain and respiratory distress in the third trimester of her second pregnancy. Her blood workup revealed a lipemic sample (Figure 1) due to markedly elevated serum triglycerides of 8178 mg/dl (Glycerol Phosphate Oxidase method). Total cholesterol and Low Density Lipoprotein were elevated at 1701 mg/dl and 788 mg/dl respectively. There was no family history of lipid disorders. Diagnosis was consistent with gestational hypertriglyceridemia with acute pancreatitis (Serum Amylase-50 U/L, Serum Lipase- 96 U/L), though genetic tests to rule out pre-existing primary hypertriglyceridemia was not feasible. In view of the life threatening condition, she was initiated on Insulin-Dextrose infusion and offered one session of Plasma Exchange. Figures 2,3 depict membrane plasma separation with the obtained effluent as lipemic plasma. Her serum triglycerides showed a declining trend and was discharged in good health (serum triglycerides at discharge-651 mg/dl).

scholarly journals PENGARUH SENAM ZUMBA TERHADAP KADAR TRIGLISERIDA DARAH PADA MAHASISWA FAKULTAS KEDOKTERAN UNIVERSITAS SAM RATULANGI

2015 ◽  
Vol 3 (1) ◽  
Author(s):  
Ashael A. Rembang ◽  
J. J. V. Rampengan ◽  
Siantan Supit
Keyword(s):  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Exercise Session ◽  
Blood Levels ◽  
Normal Body Mass Index ◽  
Low Density ◽  
Research Subjects ◽  
Post Test ◽  
Negative Impacts ◽  
High Level

Abstract: Lipid is classified into several types, which include High Density Lipoprotein (HDL), Low Density Lipoprotein (LDL), Very Low Density Lipoprotein (VLDL) and triglycerides. Triglyceride is a compound consists of three fatty acid molecules esterified into glycerol. Triglycerides are neutral fats synthesized from carbohydrate that are stored in lipid cells. Normal triglyceride levels of human is < 150 mg/dL. High levels of triglyceride have negative impacts on health as it can lead to diseases such as atherosclerosis. High level of triglyceride can be prevented and lowered by exercises such as Zumba exercise. The aim of this study is to know the effect of Zumba exercise on the level of blood triglyceride. This was an experimental study with one group pre-post test design, with criteria that include ages within 16-20 years old, normal Body Mass Index, not a Zumba gymnast, and in healthy condition during research. Samples were 19 female medical faculty students of Sam Ratulangi University class of 2014. They were subjected to do Zumba exercise every day for a week. Triglyceride levels are measured before the first Zumba exercise session and after the final session of Zumba exercise. The data were analyzed using paired-t test with SPSS programme. The results showed that there was a significant change between the mean level of triglyceride before first Zumba exercise 68,11 mg/dL and after Zumba final exercise 48 mg/dL. Conclusion: There was a decrease in triglyceride blood levels of the research subjects after doing Zumba exercises everyday for a week.Keywords: triglyceride, zumba exerciseAbstrak: Lemak terbagi menjadi beberapa jenis, yaitu lemak HDL, lemak LDL, lemak VLDL, serta kadar trigliserida. Trigliserida adalah senyawa yang terdiri dari tiga molekul asam lemak teresterifikasi menjadi gliserol. Trigliserida merupakan lemak netral yang disintesis dari karbohidrat untuk disimpan dalam sel lemak. Kadar trigliserida normal dalam tubuh manusia yaitu <150 mg/dL. Namun kadar trigliserida yang berlebihan juga tidak baik untuk kesehatan. Tingginya kadar trigliserida dalam darah dapat menyebabkan terjadinya penyakit, misalnya aterosklerosis. Kadar trigliserida yang tinggi dapat dicegah dan diturunkan dengan melakukan olahraga seperti senam Zumba. Penelitian ini bertujuan untuk mengetahui pengaruh senam Zumba tehadap kadar trigliserida darah. Penelitian ini bersifat eksperimental dengan rancangan pre-post one group test dengan sampel penelitian yang memenuhi kriteria-kriteria, yaitu usia 16-20 tahun, IMT normal, bukan merupakan seorang atlit atau pesenam Zumba, dan sehat saat dilakukan penelitian. Sampel penelitian adalah mahasiswi Fakultas Kedokteran Universitas Sam Ratulangi angkatan 2014 berjumlah 19 orang. Subjek penelitian melakukan latihan setiap hari dalam seminggu. Kadar trigliserida diukur sebelum latihan Zumba pertama dan sesudah latihan Zumba terakhir. Hasil data dianalisis dengan uji t berpasangan menggunakan program SPSS. Berdasarkan penelitian diperoleh hasil yang menunjukkan perubahan yang signifikan dengan rerata kadar triglierida sebelum senam Zumba 68,11 mg/dL dan rerata sesudah senam Zumba 48,00 mg/dL.Simpulan: Terjadi penurunan kadar tigliserida darah dari subjek penelitian setelah melakukan senam Zumba setiap hari selama seminggu.Kata kunci: trigliserida, senam zumba

scholarly journals Scavenger receptors: a key player in cardiovascular diseases

2012 ◽  
Vol 3 (4) ◽  
pp. 371-380 ◽  
Author(s):  
Mohammad Z. Ashraf ◽  
Anita Sahu
Keyword(s):  
Cardiovascular Diseases ◽  
Apoptotic Cell ◽  
Low Density Lipoprotein ◽  
Scavenger Receptor ◽  
Density Lipoprotein ◽  
Vascular Lesions ◽  
Great Promise ◽  
Term Therapy ◽  
Membrane Glycoproteins ◽  
The Individual

AbstractThe scavenger receptor (SR) super family consists of integral membrane glycoproteins that are involved in recognition of polyanionic structures of either endogenous (e.g., oxidized low-density lipoprotein) or exogenous (e.g., bacterial lipopolysaccharides) origin. SRs are structurally diverse and can be classified into seven different classes (A–G) based on the multidomain structure of the individual members. SRs are present on various types of tissues, such as vascular, adipose, and steroidogenic tissues. In addition to modified lipoprotein uptake, these proteins are also known to regulate apoptotic cell clearance, initiate signal transduction, and serve as pattern recognition receptors for pathogens. Different SRs are involved in many physiological and pathological processes; more importantly, the function of SRs is highly implicated in the initiation and progression of atherosclerotic plaque. Targeting the SR gene products that mediate the response to and uptake of modified lipids holds great promise in the prevention of cardiovascular diseases. Inhibition of SR expression using a combined gene therapy and RNA interference strategy also appears to be an option for long-term therapy. The present review focuses on the involvement of SRs in atherosclerosis, thrombosis, and other cardiovascular diseases. Moreover, the role of SRs is not restricted to vascular lesions; it is also implicated in a number of different cellular functions.

Nocardia spp.: A Rare Cause of Pneumonia Globally

2020 ◽  
Vol 41 (04) ◽  
pp. 538-554
Author(s):  
Joseph P. Lynch ◽  
Gail Reid ◽  
Nina M. Clark
Keyword(s):  
Susceptibility Testing ◽  
Organ Transplant ◽  
Clinical Manifestations ◽  
Community Acquired Pneumonia ◽  
Solid Organ ◽  
In Vitro Susceptibility ◽  
Timely Initiation ◽  
Life Threatening ◽  
Initiation Of Therapy

AbstractMembers of the Nocardia genus are ubiquitous in the environment. These aerobic, gram-positive organisms can lead to life-threatening infection, typically in immunocompromised hosts such as solid organ transplant recipients or those receiving immunosuppressive medications for other reasons. This current review discusses the microbiology of nocardiosis, risk factors for infection, clinical manifestations, methods for diagnosis, and treatment. Nocardiosis primarily affects the lung but may also cause skin and soft tissue infection, cerebral abscess, bloodstream infection, or infection involving other organs. Although rare as a cause of community-acquired pneumonia, Nocardia can have severe morbidity and mortality, particularly in patients with comorbidities or compromised immunity. Early diagnosis and timely initiation of therapy are critical to optimizing patient outcomes. Species identification is important in determining treatment, as is in vitro susceptibility testing. Sulfonamide therapy is usually indicated, although a variety of other antimicrobials may be useful, depending on the species and susceptibility testing. Prolonged therapy is usually indicated, for 6 to 12 months, and in some cases surgical debridement may be required to resolve infection.

scholarly journals Peripheral Blood Mononuclear Phagocyte Subpopulations as Cellular Markers in Hypercholesterolemia

1996 ◽  
Vol 16 (12) ◽  
pp. 1437-1447 ◽  
Author(s):  
Gregor Rothe ◽  
Holger Gabriel ◽  
Eva Kovacs ◽  
Jochen Klucken ◽  
Josef Stöhr ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Normal Subjects ◽  
Mononuclear Phagocyte ◽  
Mononuclear Phagocytes ◽  
Vascular Lesions ◽  
Peripheral Blood Mononuclear ◽  
Monocyte Subpopulations ◽  
Cellular Markers

Mononuclear phagocytes play a major role in the development of vascular lesions in atherogenesis. The goal of our study was to characterize circulating blood monocyte subpopulations as potential cellular markers of systemic immunological abnormalities in hypercholesterolemia. In normal subjects, three-parameter immunophenotyping of whole blood revealed that 61.3±6.0% of monocytes showed “bright” expression of the lipopolysaccharide receptor (LPSR: CD14) and Fcγ receptor I (RI: CD64) without expression of Fcγ-RIII (CD16). Other monocyte subsets (populations 2, 3, 4, and 5) were characterized by the simultaneous expression of both Fcγ-R's (25.6±5.0%), isolated expression of Fcγ-RIII (9.4±1.7%), or high expression of CD33 (3.7±1.1%) with only dim expression of CD14, respectively. The smallest subset of monocytes (population 5: 2.1±0.8%) differed from the predominant population of CD14 bright CD64 + CD16 − monocytes by additional expression of neural cell adhesion molecule (N-CAM: CD56). In a group of hypercholesterolemic patients (n=19), high density lipoprotein cholesterol levels were negatively correlated to the population size of CD64 − CD16 + monocytes. In both healthy subjects (n=55) and hypercholesterolemic patients, the rare apolipoprotein E3/E4 and E4/E4 phenotypes were associated with a tendency toward a larger population of CD64 − CD16 + monocytes. Expression of the variant activation antigen CD45RA by peripheral blood mononuclear phagocytes showed a positive correlation to plasma levels of the atherogenic lipoproteins low density lipoprotein and lipoprotein(a). These data suggest that systemic abnormalities in mononuclear phagocyte subpopulations may play a role in the pathogenesis of atherosclerosis.

scholarly journals Evaluation of eight formulas for LDL-C estimation in Iranian subjects with different metabolic health statuses

2019 ◽  
Vol 18 (1) ◽  
Author(s):  
Azam Karkhaneh ◽  
Molood Bagherieh ◽  
Solmaz Sadeghi ◽  
Asma Kheirollahi
Keyword(s):  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Iranian Population ◽  
Lipoprotein Cholesterol ◽  
Data Set ◽  
Insignificant Difference ◽  
Homogeneous Assay ◽  
The Difference ◽  
High Level

Abstract Background Considering the crucial role of low-density lipoprotein-cholesterol (LDL-C) concentration in determining cardiovascular risk, the accuracy of LDL-C estimation is essential. To date, various types of formulae have been introduced, albeit their accuracy has not been assessed in varied populations. In this study, the accuracy of eight formulae for LDL-C estimation was evaluated in an Iranian population. Methods A data set of 2752 individuals was included in the study and all samples were analyzed in term of lipid profiles using direct homogeneous assay. The population was divided into various subgroups based on the triglyceride (TG), high-density lipoprotein- cholesterol (HDL-C), total cholesterol (TC), fasting blood sugar (FBS) and age values and estimated LDL-C values by Friedewald, Chen, de Cordova, Vujovic, Anandaraja, Hattori, Ahmadi, and Puavillai equations were compared to the directly measured LDL-C in each subgroup. Results Estimated LDL-C values by Puavillai formulae showed an insignificant difference compared to the directly measured LDL-C in subjects with high level of TG. However, for TG range < 3.38 mmol/L and high levels of HDL-C, the difference between the means of estimated LDL-C by Hattori and de Cordova formulas, and directly measured LDL-C was relatively lower than other equations. In addition, estimated LDL-C by Hattori and de Cordova formulae had insignificant differences as compared to the direct LDL-C at some levels of cholesterol, the normal level of FBS and some age ranges. Conclusions Therefore, it seems that Hattori and de Cordova formulas can be considered as the best alternatives for LDL-C direct measurement in the Iranian population, especially for healthy subjects.

scholarly journals Adaptive Immune Responses in Human Atherosclerosis

2020 ◽  
Vol 21 (23) ◽  
pp. 9322
Author(s):  
Silvia Lee ◽  
Benjamin Bartlett ◽  
Girish Dwivedi
Keyword(s):  
T Cells ◽  
Low Density Lipoprotein ◽  
Clinical Manifestations ◽  
Density Lipoprotein ◽  
Chronic Inflammatory Disease ◽  
Th2 Cells ◽  
Low Density ◽  
Heat Shock Protein 60 ◽  
Atherosclerosis Progression ◽  
Human Atherosclerosis

Atherosclerosis is a chronic inflammatory disease that is initiated by the deposition and accumulation of low-density lipoproteins in the artery wall. In this review, we will discuss the role of T- and B-cells in human plaques at different stages of atherosclerosis and the utility of profiling circulating immune cells to monitor atherosclerosis progression. Evidence supports a proatherogenic role for intraplaque T helper type 1 (Th1) cells, CD4+CD28null T-cells, and natural killer T-cells, whereas Th2 cells and regulatory T-cells (Treg) have an atheroprotective role. Several studies indicate that intraplaque T-cells are activated upon recognition of endogenous antigens including heat shock protein 60 and oxidized low-density lipoprotein, but antigens derived from pathogens can also trigger T-cell proliferation and cytokine production. Future studies are needed to assess whether circulating cellular biomarkers can improve identification of vulnerable lesions so that effective intervention can be implemented before clinical manifestations are apparent.

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