Gotowe bibliografie tematyczne / Heart – Diseases – Genetic aspects

Gotowa bibliografia na temat „Heart – Diseases – Genetic aspects”

Autor: Grafiati
Data publikacji: 4 czerwca 2021
Data aktualizacji: 19 lutego 2022

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Artykuły w czasopismach na temat "Heart – Diseases – Genetic aspects"

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Penyaeva, Elena V. "Genetic aspects of Ebstein anomaly and related heart diseases". Annals of the Russian academy of medical sciences 76, nr 1 (12.04.2021): 67–74. http://dx.doi.org/10.15690/vramn1228.

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Ebstein anomaly is a congenital heart disease, which is characterized by the presence of atrialized portion of the right ventricle, formed as a result of displacement of the tricuspid valve leaflets into the right ventricle and their partial adherence to the underlying myocardium. Atrialized portion in the right ventricle occupies the space between the fibrous annulus of the right atrioventricular orifice and the functional annulus of tricuspid valve, which represents a zone of closure of free (non-adherent to the underlying myocardium) edges of its leaflets. Ebstein anomaly is very rarely isolated, and can be combined with a number of heart diseases and be an integral part of hereditary syndromes. Currently, the role of genetic research in the investigation of the etiology of human diseases as well as understanding of the relationship between different diseases is increasing. The review presents literature data on the combination of Ebstein anomaly with other heart diseases (congenital heart diseases, Wolf-Parkinson-White syndrome, cardiomyopathies, including left ventricular noncompaction), inter alia, within the scope of hereditary syndromes (Noonan syndrome, 8p deletion syndrome, 18q deletion syndrome, 1p36 deletion syndrome, Pierre Robin syndrome). Genetic factors (gene and chromosomal mutations) lying at the core of Ebstein anomaly, as well as heart diseases combined with it, are highlighted. The analysis of published data suggests that Ebstein anomaly is a monogenic disease, and is characterized by allelic and locus genetic heterogeneity. The combination of Ebstein anomaly with other heart diseases is based on their genetic linkage.
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Łój, Magdalena, Magdalena Garncarz i Michał Jank. "Genomic and genetic aspects of heart failure in dogs — A review". Acta Veterinaria Hungarica 60, nr 1 (1.03.2012): 17–26. http://dx.doi.org/10.1556/avet.2012.002.

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The most common causes of heart failure in dogs are valvular disease, predominantly endocardiosis, and myocardial disease, predominantly dilated cardiomyopathy. They are related to changes in the expression of several genes in the heart muscle and in peripheral blood nuclear cells which could be considered as prognostic or diagnostic markers of heart disease in dogs. Since many human genetic markers of heart failure have turned out to be useless in dogs, the screening for genomic markers of canine heart failure could give more insight into the molecular pathology of these diseases and aid the development of new treatment strategies.
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Ellingwood, Sara S., i Alan Cheng. "Biochemical and clinical aspects of glycogen storage diseases". Journal of Endocrinology 238, nr 3 (wrzesień 2018): R131—R141. http://dx.doi.org/10.1530/joe-18-0120.

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The synthesis of glycogen represents a key pathway for the disposal of excess glucose while its degradation is crucial for providing energy during exercise and times of need. The importance of glycogen metabolism is also highlighted by human genetic disorders that are caused by mutations in the enzymes involved. In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical glycogen storage diseases. Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, the spectrum of symptoms observed is very broad, depending on the affected enzyme. Finally, we briefly discuss an aspect of glycogen metabolism related to the maintenance of its structure that seems to be gaining more recent attention. For example, in Lafora progressive myoclonus epilepsy, patients exhibit an accumulation of inclusion bodies in several tissues, containing glycogen with increased phosphorylation, longer chain lengths and irregular branch points. This abnormal structure is thought to make glycogen insoluble and resistant to degradation. Consequently, its accumulation becomes toxic to neurons, leading to cell death. Although the genes responsible have been identified, studies in the past two decades are only beginning to shed light into their molecular functions.
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Saryeva, Olga P., Ludmila V. Kulida, Elena V. Protsenko i Maria V. Malysheva. "Cardiomyopathy in children – clinical, genetic and morphological aspects". I.P. Pavlov Russian Medical Biological Herald 28, nr 1 (9.04.2020): 99–110. http://dx.doi.org/10.23888/pavlovj202028199-110.

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Cardiomyopathy is one of serious and complex problems of pediatric cardiology. Many of them are the cause of sudden death and are familial in character. Disappointing statistics increases the relevance of the problem of cardiomyopathy and dictates the need for in-depth study of the etiology and pathogenesis, structural bases and experience in clinical and morphological diagnosis of this pathology in children. Of particular importance from a practical point of view is the development of prognostic factors in primary and secondary cardiomyopathies. This literature review provides information on the etiology, pathogenesis, clinical manifestations, pathomorphological changes and outcomes of such cardiomyopathies as hypertrophic, dilated cardiomyopathies, non-compact left ventricular myocardium and histiocytoid cardiomyopathy. Peculiarities of restructure of the myocardium in the analyzed cardiomyopathies and their relationship with systolic and diastolic myocardial dysfunction are shown. Molecular genetic aspects of diagnosis of etiology and pathogenesis of this pathology in children are given in detail. The necessity of systematic pathomorphological study of the heart with full analysis of contractile, conducting microcirculatory and neuroautonomic structures in considered variants of cardiovascular pathology is emphasized. These data will help outline future research priorities for this group of diseases to provide earlier diagnosis, improve clinical outcomes and the quality of life of these children and their families.
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Ferrari, Marta, i Stefano Stagi. "Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome". Genes 12, nr 2 (13.02.2021): 268. http://dx.doi.org/10.3390/genes12020268.

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Within immune system-related diseases, autoimmunity has always represented a field of great interest, although many aspects remain poorly understood even today. Genetic syndromes associated with immunity disorders are common and represent an interesting model for a better understanding of the underlying mechanism of autoimmunity predisposition. Among these conditions, Down syndrome (DS) certainly deserves special attention as it represents the most common genetic syndrome associated with immune dysregulation, involving both innate and adaptive immunity. Autoimmunity represents a well-known complication of DS: it is estimated that people affected by this disease present a risk four to six times higher than the normal population to develop autoimmune diseases such as celiac disease, type 1 diabetes mellitus, and hypo- or hyperthyroidism. Several factors have been considered as possible etiology, including genetic and epigenetic modifications and immune dysregulation. In times in which the life expectancy of people with DS has been extremely prolonged, thanks to improvements in the diagnosis and treatment of congenital heart disease and infectious complications, knowledge of the mechanisms and proper management of autoimmune diseases within this syndrome has become essential. In this short review, we aim to report the current literature regarding the genetic, immune, and environmental factors that have been proposed as the possible underlying mechanism of autoimmunity in individuals with DS, with the intent to provide insight for a comprehensive understanding of these diseases in genetic syndromes.
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Protasoni, Margherita, i Massimo Zeviani. "Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions". International Journal of Molecular Sciences 22, nr 2 (8.01.2021): 586. http://dx.doi.org/10.3390/ijms22020586.

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Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production. The interest in this organelle has grown stronger with the discovery of their link to various pathologies, including cancer, aging and neurodegenerative diseases. Indeed, dysfunctional mitochondria cannot provide the required energy to tissues with a high-energy demand, such as heart, brain and muscles, leading to a large spectrum of clinical phenotypes. Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases, with an incidence of 1 in 5000 live births. Primary mitochondrial diseases are associated with genetic mutations both in nuclear and mitochondrial DNA (mtDNA), affecting genes involved in every aspect of the organelle function. As a consequence, it is difficult to find a common cause for mitochondrial diseases and, subsequently, to offer a precise clinical definition of the pathology. Moreover, the complexity of this condition makes it challenging to identify possible therapies or drug targets.
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Protasoni, Margherita, i Massimo Zeviani. "Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions". International Journal of Molecular Sciences 22, nr 2 (8.01.2021): 586. http://dx.doi.org/10.3390/ijms22020586.

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Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production. The interest in this organelle has grown stronger with the discovery of their link to various pathologies, including cancer, aging and neurodegenerative diseases. Indeed, dysfunctional mitochondria cannot provide the required energy to tissues with a high-energy demand, such as heart, brain and muscles, leading to a large spectrum of clinical phenotypes. Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases, with an incidence of 1 in 5000 live births. Primary mitochondrial diseases are associated with genetic mutations both in nuclear and mitochondrial DNA (mtDNA), affecting genes involved in every aspect of the organelle function. As a consequence, it is difficult to find a common cause for mitochondrial diseases and, subsequently, to offer a precise clinical definition of the pathology. Moreover, the complexity of this condition makes it challenging to identify possible therapies or drug targets.
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Pedersen, Maria Weinkouff, Kristian Ambjørn Groth, Kristian Havmand Mortensen, John Brodersen, Claus Højbjerg Gravholt i Niels Holmark Andersen. "Clinical and pathophysiological aspects of bicuspid aortic valve disease". Cardiology in the Young 29, nr 1 (30.10.2018): 1–10. http://dx.doi.org/10.1017/s1047951118001658.

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AbstractA bicuspid aortic valve is not only a common congenital heart defect but also an enigmatic condition that can cause a large spectrum of diseases, such as aortic valve stenosis and severe heart failure in newborns whereas aortic dissection in adults. On the contrary, a bicuspid aortic valve can also occur with normal function throughout life and never need treatment. Numerous genetic mechanisms are involved in the abnormal cellular functions that may cause abnormal development of the aortic valve during early foetal life. As several chromosomal disorders are also associated with a bicuspid valve, there does not appear to be an apparent common trigger to the abnormal development of the aortic valve. The clinical care of the bicuspid aortic valve patient has been changed by a significant body of evidence that has improved the understanding of the natural history of the disease, including when to best intervene with valve replacement and when to provide prophylactic aortic root surgery. Moreover, as bicuspid valve disease is also part of various syndromes, we can identify high-risk patients in whom a bicuspid valve is much more unfavourable than in the normal population. This review provides an overview of all aspects of the bicuspid aortic valve condition and gives an updated perspective on issues from pathophysiology to clinical care of bicuspid aortic valve disease and associated aortic disease in asymptomatic, symptomatic, and pregnant patients, as well as our viewpoint on population screening.
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Alper, Joseph S. "Does the ADA Provide Protection Against Discrimination on the Basis of Genotype?" Journal of Law, Medicine & Ethics 23, nr 2 (1995): 167–72. http://dx.doi.org/10.1111/j.1748-720x.1995.tb01346.x.

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As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 (ADA) applies to (1) individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to (2) healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer.
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Li, Suyi, Feng Li, Shijie Tang i Wenji Xiong. "A Review of Computer-Aided Heart Sound Detection Techniques". BioMed Research International 2020 (10.01.2020): 1–10. http://dx.doi.org/10.1155/2020/5846191.

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Cardiovascular diseases have become one of the most prevalent threats to human health throughout the world. As a noninvasive assistant diagnostic tool, the heart sound detection techniques play an important role in the prediction of cardiovascular diseases. In this paper, the latest development of the computer-aided heart sound detection techniques over the last five years has been reviewed. There are mainly the following aspects: the theories of heart sounds and the relationship between heart sounds and cardiovascular diseases; the key technologies used in the processing and analysis of heart sound signals, including denoising, segmentation, feature extraction and classification; with emphasis, the applications of deep learning algorithm in heart sound processing. In the end, some areas for future research in computer-aided heart sound detection techniques are explored, hoping to provide reference to the prediction of cardiovascular diseases.
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Rozprawy doktorskie na temat "Heart – Diseases – Genetic aspects"

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McCaskie, Pamela Ann. "Multiple-imputation approaches to haplotypic analysis of population-based data with applications to cardiovascular disease". University of Western Australia. School of Population Health, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0160.

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[Truncated abstract] This thesis investigates novel methods for the genetic association analysis of haplotype data in samples of unrelated individuals, and applies these methods to the analysis of coronary heart disease and related phenotypes. Determining the inheritance pattern of genetic variants in studies of unrelated individuals can be problematic because family members of the studied individuals are often not available. For the analysis of individual genetic loci, no problem arises because the unit of interest is the observed genotype. When the unit of interest is the linear combination of alleles along one chromosome, inherited together in a haplotype, it is not always possible to determine with certainty the inheritance pattern, and therefore statistical methods to infer these patterns must be adopted. Due to genotypic heterozygosity, mutliple possible haplotype configurations can often resolve an individual's genotype measures at multiple loci. When haplotypes are not known, but are inferred statistically, an element of uncertainty is thus inherent which, if not dealt with appropriately, can result in unreliable estimates of effect sizes in an association setting. The core aim of the research described in this thesis was to develop and implement a general method for haplotype-based association analysis using multiple imputation to appropriately deal with uncertainty haplotype assignment. Regression-based approaches to association analysis provide flexible methods to investigate the influence of a covariate on a response variable, adjusting for the effects of other variables including interaction terms. ... These methods are then applied to models accommodating binary, quantitative, longitudinal and survival data. The performance of the multiple imputation method implemented was assessed using simulated data under a range of haplotypic effect sizes and genetic inheritance patterns. The multiple imputation approach performed better, on average, than ignoring haplotypic uncertainty, and provided estimates that in most cases were similar to those observed when haplotypes were known. The haplotype association methods developed in this thesis were used to investigate the genetic epidemiology of cardiovascular disease, utilising data for the cholesteryl ester transfer protein gene (CETP), the hepatic lipase (LIPC) gene and the 15- lipoxygenase (ALOX15) gene on a total of 6,487 individuals from three Western Australian studies. Results of these analyses suggested single nucleotide polymorphisms (SNPs) and haplotypes in the CETP gene were associated with increased plasma high-density lipoprotein cholesterol (HDL-C). SNPs in the LIPC gene were also associated with increased HDL-C and haplotypes in the ALOX15 gene were associated with risk of carotid plaque among individuals with premature CHD. The research presented in this thesis is both novel and important as it provides methods for the analysis of haplotypic associations with a range of response types, while incorporating information about haplotype uncertainty inherent in populationbased studies. These methods are shown to perform well for a range of simulated and real data situations, and have been written into a statistical analysis package that has been freely released to the research community.
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Makubalo, Zola. "Mutation screening of candidate genes and the development of polymorphic markers residing on chromosome 19q13.3, the progressive familial heart block I gene search area". Thesis, Stellenbosch : Stellenbosch University, 2000. http://hdl.handle.net/10019.1/51838.

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Thesis (MSc)--Stellenbosch University, 2000.
ENGLISH ABSTRACT: Progressive familial heart block type I (PFHBI) is a cardiac ventricular conduction disorder of unknown cause associated with risk of sudden death, which has been described in several South African families. Clinically, PFHBI is characterised by right bundle branch block on ECG, which may progress to complete heart block, necessitating pacemaker implantation. The disease shows an autosomal dominant pattern of inheritance with evidence of genetic anticipation. Using genetic linkage analysis, the PFHBI-causative gene was mapped to a 10 eentimorgan (cM) gene-rich area of chromosome (C) 19q13.3, which has, subsequently, been reduced to 7cM by fine mapping with polymorphic dinucleotide (CA)n short tandem repeat (STR) markers. Several attractive candidate genes, including muscle glycogen synthase (GSY 1) and histidine-rich calcium binding protein (HRC), lie within this region. The aim of the present study was two-fold: 1) to identify and characterise tetranucleotide (AAAT)n STRs within the PFHBI critical region that could be developed as polymorphic markers for use in genetic fine mapping and 2) to screen selected regions of GSY 1and HRC, positional candidate genes, for the presence ofPFHBI-causing mutation(s). Cosmids harbouring CI9q13.3 insert DNA were screened for the presence of (AAAT)n STRs by dot blot and Southern blot hybridisation using a radiolabelled (AAAT)lO oligonucleotide probe. To characterise the harboured (AAAT)n STRs, the positively hybridising fragments identified by Southern blot were sub-cloned, sequenced and primers designed from the unique repeat-flanking sequences. These primers were used to genotype the (AAAT)n repeat locus to assess its polymorphic nature in a panel of unrelated individuals. Alternatively, vectorette PCR, a rapid method of identifying repeat sequences and obtaining the flanking sequences in large inserts, was employed to develop polymorphic markers from the positively hybridising clones. Selected exons of GSY1 and HRC were screened for the presence of potentially disease-causing mutations by PCR-SSCP analysis and direct sequencing, respectively, in PFHBI-affected and unaffected family members. Of the available cosmid clones that gave strong signals on dot blot and Southern blot hybridisation, three, 29395, 24493 and 20381, were located within the critical PFHBI area and were used for marker development. An interrupted (AAAT)n repeat motif (n less than 5) was identified in cosmid 29395, however, the repeat locus was not polymorphic in the tested population. No (AAAT)n motif, single or repeated was observed in the partial sequence of the sub-cloned fragment of cosmid 24493. Using vectorette peR, no repeated (AAAT)n motif was identified on sequencing the generated products in either cosmid 24493 or 2038l. However, diffuse single AAAT motifs were detected in both cosmids. Exons 4, 5, 11, 12 and 16 of GSY 1, containing domains that are conserved across species, and the conserved eterminus- encoding exons 2-6 of HRC were selected for screening for potential PFHBI-causing mutation(s). However, no sequence variations were detected. The interrupted (AAAT)n repeat identified in cosmid 29395 was not polymorphic, which confirmed reports that complex repeats, especially those containing AAAT motifs of less than 6 repeats, are not polymorphic. One possible explanation for the absence of a repeated AAAT motif in cosmids 24493 and 20381, which both gave positive hybridisation signals, is that the low annealing temperature of the AfT -rich repeat-anchored primers used in vectorette peR may have resulted in transient annealing to the diffuse single AAAT motifs detected on sequencing. The screened regions of candidate genes GSYI and HRC were excluded from carrying the disease-causing mutation(s). The availability of new sequence data generated by the Human Genome Project will influence future strategies to identify the PFHBI gene. Electronic searches will allow identification of STR sequences for development of polymorphic markers and gene annotation will allow selection of new candidate genes for mutation screening.
AFRIKAANSE OPSOMMING: Sien volteks vir opsomming
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Fournier, Caroline. "Genetic investigation of vascular diseases in the French-Canadian population". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0030/MQ64355.pdf.

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Zhian, Samaneh. "Molecular Genetic Analysis of CRELD1 in Patients with Heterotaxy Disorder". PDXScholar, 2011. https://pdxscholar.library.pdx.edu/open_access_etds/410.

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Heterotaxy refers to the abnormal arrangement of internal organs in relation to each other. Model organism studies have shown that functions of more than eighty genes are required for normal asymmetric left-right organ development. CRELD1 has been shown to be necessary for proper heart development and mutations in CRELD1 are known to increase risk of cardiac atrioventricular septal defects (AVSD). AVSD is the most common form of heart defect associated with heterotaxy, and we have previously shown that some individuals with heterotaxy-related AVSD have mutations in CRELD1. Therefore, we propose to examine the CRELD1 gene in a large sample of patients with heterotaxy syndrome. Our goal was to determine if mutations in CRELD1 are associated with other manifestations of heterotaxy or if they only coincide with AVSD. To achieve this aim, a sample size of 126 patients with heterotaxy collected by Dr. Belmont, Baylor college of Medicine, Texas, with approximately 66% of the heterotaxy population with different types of heart defects, were used for this study. Ten exons, promoter regions, and regulatory elements in the introns of CRELD1 gene were sequenced and analyzed. In this study three different heterozygous missense mutations in CRELD1 were identified in three unrelated individuals. These three individuals were diagnosed with different forms of heart defects in addition to AVSD. All three mutations were identified in highly conserved regions of CRELD1 possibly altering the CRELD1 properties. This demonstrates that mutations in CRELD1 may increase the susceptibility of AVSD in heterotaxy population. This information can help us to find factors effecting disease susceptibility in heterotaxy patients since the heart defects are a complex trait with incomplete penetrance.
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Yako, Yandiswa. "Bioinformatics-based strategies to identify PFHBII-causing and HCM main locus and/or HCM modifying mutations". Thesis, Stellenbosch : University of Stellenbosch, 2004. http://hdl.handle.net/10019.1/16473.

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Thesis (MSc)--University of Stellenbosch, 2004.
ENGLISH ABSTRACT: Progressive familial heart block type II (PFHBII) is an inherited cardiac conduction disorder of unknown aetiology, which has been described in a South African family. The disorder was mapped to a 2.9 centimorgan (cM) locus on chromosome 1q32.2-32.3. Clinically, PFHBII manifests cardiac conduction aberrations, that progress to a disease of the heart muscle, dilated cardiomyopathy (DCM). DCM is also reported as an end phase in hypertrophic cardiomyopathy (HCM), another heart muscle disorder. These cardiomyopathies are genetically heterogeneous with some of the genes reported as causes of both disorders. Therefore, genes identified as causes of HCM and DCM were considered plausible candidates for PFHBII mutation analysis. Additionally, this study provided an opportunity to assess potential modifiers of HCM. HCM exhibits marked phenotypic variability, observed within and between families harbouring the same causative mutation. Genes within the PFHBII locus were selected for PCR-SSCP analysis based on homology to genes previously reported as causing conduction system disorders associated with arrhythmias, DCM and/or HCM. Results were confirmed by direct sequencing and association between the detected variants and HCM parameters was assessed using a quantitative transmission disequilibrium test (QTDT). Eleven plausible candidate genes were selected within the PFHBII locus and two of the genes, PFKFB2 and ATF3, that encode for 6-phosphofructo-2,6-bisphosphatase (PFK-2/FBPase-2) and activating transcription factor 3 (ATF3), respectively, were analysed for PFHBII-causing and HCM main locus and/or HCM modifying mutations. Mutation analysis of PFKFB2 and ATF3 in the PFHBII family revealed no PFHBII causal mutation. PFKFB2 and ATF3 were later localised outside the PFHBII locus, and, therefore, were excluded as PFHBII plausible candidates. Further analysis of the two genes for HCM main locus and/or HCM modifying mutations in the HCM panel identified several sequence variants. QTDT analysis of these variants showed no significant association. Completion of the Human Genome Project (HGP) and annotation of new genes within the PFHBII locus allowed the identification of more PFHBII plausible candidate genes. Identification of causal mutations in plausible PFHBII candidate genes will allow molecular diagnosis of PFHBII pathophysiology. Furthermore, identification of both HCM-modifying and HCM-causing genes will give insight into the phenotypic variability noted among South African HCM-affected individuals and into the molecular cause of the disease among individuals with HCM-like clinical features.
AFRIKAANSE OPSOMMING: Progressiewe familiële hartblok tipe II (PFHBII) is ʼn oorgeërfde hart geleidingsiekte van onbekende etiologie wat in ʼn Suid-Afrikaanse familie beskryf is. Die siekte is ʼn 2.9 sentimorgan (cM) lokus op chromosoom 1q32.2-32.3 gekarteer. Klinies presenteer PFHBII met geleidingsfwykings wat uitloop op gedilateerde kardiomiopatie (DCM). DCM word ook gerapporteer as ʼn endfase in hipertrofiese kardiomiopatie (HCM), ʼn ander hartspiersiekte. Die kardiomiopatieë is geneties heterogeen, met ʼn aantal gene wat as oorsaak van altwee siektetoestande gerapporteer word. Daarom is alle gene wat geïdentifiseer is as oorsake van DCM en HCM, as moontlike kandidaatgene vir PFHBII mutasieanaliese beskou. Bykomend het hierdie studie die geleentheid gebied om potensiële modifiseerders van HCM te assesseer. HCM toon beduidende fenotipiese variasie binne en tussen families wat dieselfde siekteveroorsakende mutasie het. Gene binne die PFHBII-lokus is geselekteer vir PCR-SSCP-analiese gebaseer op homologie met gene wat voorheen gerapporteer is om betrokke te wees by geleidingsiesisteemsiektes, geassosieerde arritmieë, DCM en/of HCM. Resultate is bevestig deur volgordebepaling. Assosiasie tusssen ontdekte variante en die siekteparameter is bepaal met ʼn kwantitatiewe transmissie disekwilibrium toets (QTDT). Elf moontlike kandidaatgene in die PFHBII-lokus is geselekteer en twee van die gene, PFKFB2 en ATF3, wat kodeer vir 6-fosfofrukto-2,6-bifosfatase (PFK-2/FBPase-2) en aktiveringstranskripsiefaktor 3 (ATF3) respektiewelik, is vir PFHBII-oorsakende en HCMhooflokus en/of HCM-modifiseerende mutasies ondersoek. Mutasie-analiese van PFKFB2 en ATF3 in die PFHBII-familie het nie ʼn siekteveroorsakende mutasie onthul/uitgelig nie. PFKFB2 en ATF3 is later buite die PFHBII-lokus geplaas en dus ook as moontlike PFHBII-kandidate uitgesluit. Verdere ondersoek van díe twee gene vir HCM-hooflokus en/of HCM-modifiserende mutasies in die HCM-paneel het ʼn aantal volgorde variante geïdentifiseer. QTDT-analiese van die variante het geen beduidende assosiasies aangetoon nie. Voltooiing van die Menslike Genoom Projek (HGP) en annotasie van nuwe gene in die PFHBIIlokus het tot die identifikasie van verdere moontlike PFHBII-kandidaatgene gelei. Identifikase van siekte-veroorsaakende mutasies in die moontlike PFHBII-kandidaatgene sal die molekulêre diagnose van PFHBII toelaat en insig in die patofisiologie van die siekte gee. Verder, identifikasie van beide HCM-veroorsakende of HCM-modifiserende gene kan insig gee in die fenotipiese varieerbaarheid wat onder Suid-Afrikaanse HCM-geaffekteerde individue waargeneem word en ook in die molekulêre oorsake van die siekte in individue met HCMsoortige kliniese kenmerke.
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Chan, Kin-wang, i 陳健宏. "Study of the in vivo role of TSPYL2 in transgenic mice". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B38225049.

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Pocathikorn, Anothai. "Low density lipoprotein receptor-related protein (LRP) and its mRNA : influence of genetic polymorphisms, a fat load and statin therapy". University of Western Australia. School of Surgery and Pathology, 2006. http://theses.library.uwa.edu.au/adt-WU2006.0117.

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[Truncated abstract] The low density lipoprotein receptor-related protein (LRP), a member of the low-density lipoprotein (LDL) receptor gene family is involved in numerous biological processes including lipoprotein metabolism. This thesis concerns investigations into some aspects of LRP metabolism/regulation and possible roles in coronary artery disease (CAD). Specific aims were: to investigate the association between polymorphisms in the LRP gene and in its associated protein, the lipoprotein receptor-associated protein (RAP), with the risk of CAD; to extensively examine the influence of the LRP exon 22 C200T polymorphism on lipid metabolism; to develop and characterise assays for the mRNA expression of LRP and 2 other genes relevant to lipid metabolism, the LDL receptor (LDLR), and HMG CoA reductase (HMGCR); and finally, to apply the latter techniques to studies on the influence of genetic variation in LRP, and dietary and drug interventions, on LRP, LDLR and HMGCR mRNA expression in nucleated blood cells from healthy human subjects. Six hundred CAD subjects and 700 similarly aged controls were genotyped for 8 LRP gene polymorphisms as well as for the RAP V311M polymorphism. ... In the final phase of my studies, I examined the influence of 4 weeks therapy with a cholesterol lowering drug, an HMGCR inhibitor, atorvastatin (20mg daily), on the mRNA expression of LDLR, LRP and HMGCR in human nucleated blood cells. Twelve normal Caucasian male subjects aged 49 ? 5 (SD) years were studied. Plasma total cholesterol and LDL-C decreased by averages of 29 % and 41 % after the 4 week period. This was accompanied by an elevation in LDLR mRNA expression by approximately 30 35 %. In contrast, there was no significant effect on LRP and HMGCR mRNA expression. In conclusion, the original findings in this thesis included: demonstration of a strong influence of the LRP exon 22 C200T polymorphism on coronary artery disease and LDLR expression, but without a clear effect on fasting or postprandial lipid levels; data on the biological variation in LDLR and LRP gene expression in nucleated blood cells from normal subjects; the influence of an oral fat load on the expression viii of these genes, finding that LDLR was significantly depressed; and finally, the observation that statin therapy upregulated LDLR in nucleated blood cells.
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Kuek, Conchita Maria. "Hereditary haemochromatosis and the C282Y genotype : implications in diagnosis and disease". University of Western Australia. School of Surgery and Pathology, 2003. http://theses.library.uwa.edu.au/adt-WU2004.0024.

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[Truncated abstract. Please see the pdf format for the complete text.] The discovery of the C282Y mutation and its role in the development of hereditary haemochromatosis has allowed a greater understanding into the effects of iron overload and its involvement in other conditions such as diabetes and heart disease. It has also allowed the better classification of heterozygotes, who were previously only diagnosed through the use of family studies. There are however, areas of conflict between phenotyping and genotyping methods. My research involved examining the relationship between Haemochromatosis and certain diseases such as diabetes and heart disease; genotyping versus phenotyping discrepancies and the possible interaction of secondary mutations. In Chapter 3 a population study was undertaken with the aim of comparing genotyping versus phenotyping methods as well as increasing general practitioner awareness regarding hereditary haemochromatosis and its diagnosis. It was determined that a minimum of 5000 subjects would be required to give the study sufficient power. Individuals were to be between the ages of 20—40 years, and thus presumably presymptomatic. Participation was entirely voluntary and a consent form was to be signed. Recruitment of subjects proved to be difficult and there was a selective bias towards individuals already displaying symptoms of haemochromatosis. In total less than a 100 subjects were recruited for the study. There were several issues encountered in the implementation of this study. Firstly the number of GPs participating was probably insufficient to recruit the subjects required. A more extensive campaign was probably required to enroll more GPs. Secondly it is very difficult for a busy GP to find the time necessary to explain the study to each of his patients and to get them to sign the consent form. Finally a bias developed in some of the requests. The subjects participating in this study were supposed to be random but in many cases the GPs had enrolled them in the study because they had symptoms of iron overload. In effect the biggest obstacle this study faced was the recruitment of subjects. Due to the small number of subjects little statistical data could be obtained from this study. It was noted, however, that genotyping methods detected two individuals who were homozygous for the C282Y mutation. Both also had increased transferrin saturation levels. Phenotyping detected 5 individuals with increased transferrin saturation. The three others detected via phenotyping were C282Y heterozygotes. Haemochromatosis has long been though to be related to the development of diabetes due to the effect of iron overload on the pancreas. If this is so it would be logical to assume that the prevalence of haemochromatosis would be higher in a diabetic population. Chapter 4 examined the possibility that diabetics have a higher frequency of the C282Y mutation. A population group consisting of 1355 diabetics was genotyped for the C282Y mutation and iron studies were performed on all heterozygotes and C282Y homozygotes. Initial findings indicated that there was a significant difference between the diabetic and control population. However, this finding was the opposite of what was expected, there seemed to be a decreased frequency of the Y allele in the diabetic population rather than an increased one. The control and diabetic populations were not matched in terms of ethnicity. The removal of the ethnic bias in the diabetic population altered the statistics so there was no longer a significant difference between the two groups. This study highlighted the importance of using appropriate control populations as comparison groups. The final results of the study indicated that there was no significant difference between the diabetic population and the control population. This would seem to indicate that there is not an increased occurrence of the C282Y mutation in the diabetic population when compared to the control group. Chapter 5 considered the possible association between C282Y heterozygosity and cardiovascular disease as well as the potential for early mortality. Several recent studies have indicated that C282Y heterozygosity may be a risk factor for the development of atherosclerosis, possibly on the basis of increased iron loading. Using a control population and a population of individuals with known coronary events the incidence of the C282Y mutation was compared against other risk factors. C282Y heterozygosity did not appear to be a risk factor for atherosclerosis. There was however, a statistically significant link between increased ferritin in women and carotid plaques. A population of elderly women was genotyped in order to examine the effects of C282Y heterozygosity on longevity. The first hypothesis addressed in chapter 5 was that C282Y heterozygosity was a risk factor for the development of coronary heart disease.
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Sznajer, Yves. "Etude des manifestations cardiovasculaires chez les patients présentant un syndrome de Noonan porteurs de mutation au sein du gène PTPN11: rôles des gènes de la voie de signalisation des MAP kinases pour les syndromes apparentés". Doctoral thesis, Universite Libre de Bruxelles, 2009. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210210.

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Les patients décrits initialement par J. Noonan se ressemblent et ont une cardiopathie congénitale :soit une sténose valvulaire pulmonaire (SVP), soit une persistance du canal artériel. Avant la découverte du premier gène responsable de ce qui est devenu le syndrome de Noonan, cinq études de cohortes décrivant ces patients ont répertorié la prévalence de SVP mais le spectre des cardiopathies semble large, n’a pas été décrit de manière exhautive et aucune hypothèse n’est émise ou ne fait de lien entre ces différentes manifestations cardiaques et une compréhension intégrée du développement embryonnaire. Le gène PTPN11 est le premier gène identifié chez 40% de ces patients. Une corrélation existe entre la présence d’une mutation et la survenue de SVP de même qu’entre l’absence de mutation et la présence d’une cardiomyopathie hypertrophique. Six études de cohortes ont repris la description des mutations identifiées au sein du gène PTPN11 et les phénotypes associés, mais les cardiopathies n’ont pas été systématiquement ou spécifiquement analysées (tant au sein des groupes de patients porteurs de mutation que de ceux sans mutation). Le syndrome LEOPARD est allélique du syndrome de Noonan depuis que des mutations spécifiques au sein des exons 7,12 et 13 du gène PTPN11 ont été identifiées chez 95% des patients.

Afin d’appréhender les implications possibles du gène PTPN11 dans la survenue des cardiopathies chez les patients porteurs de ces deux syndromes, nous avons conduit une étude chez 272 patients au syndrome de Noonan et une étude chez 19 patients porteurs du syndrome LEOPARD. Parmi la cohorte de patients atteints du syndrome de Noonan, 104 ont été diagnostiqués porteurs d’une mutation du gène (38%). Une prévalence de survenue de cardiopathies affectant les structures droites du cœur se dégage chez les patients identifiés porteurs d’une mutation avec une différence significative pour la SVP, une tendance est relevée pour le canal atrio-ventriculaire et la communication inter-auriculaire de type Ostium Secundum. L’absence de mutation est corrélée avec la survenue de cardiomyopathie hypertrophique et de cardiopathies du cœur gauche. Parmi les patients atteints du syndrome LEOPARD, il n’existe pas de différence statistiquement significative pour les patients porteurs d’une mutation ou non et/ou pour une cardiopathie particulière.

Toutes les mutations identifiées du gène PTPN11 sont des mutations ‘faux-sens’. Ce gène appartient à la famille des gènes codant pour une protéine tyrosyl phosphatase, SHP-2, ne possédant pas de récepteur trans-membranaire. Cette phosphatase est impliquée dans la voie de signalisation cellulaire des MAP (‘Mitogen-activated protein’) kinases dont l’expression est ubiquitaire et inclut le coeur. Depuis nos travaux, le concept de syndrome « neuro-cardio-facio-cutané » est établi puisque, à ce jour, 9 gènes (SOS1, RAF1, BRAF, KRAS, NRAS, HRAS, NF1, SPRED1 et SHOC2), tous impliqués dans la voie de signalisation RAS (voie des MAP kinases) sont identifiés. Un spectre phénotypique existe avec des signes communs mais aussi distinctifs chez les patients présentant le syndrome de Noonan, le syndrome LEOPARD, le syndrome de Costello, le syndrome Cardio-Facio-Cutané (CFC), le syndrome « Noonan-NF1 », le syndrome de Legius et le syndrome « Noonan/Multiple Giant Cell Lesion ». Nous rapportons enfin l’observation d’une patiente atteinte du syndrome CFC et porteuse d’une mutation (p.R257Q) au sein du gène BRAF ayant développé une cardiomyopathie hypertrophique.

Ces travaux de cohortes de patients au phénotype du syndrome de Noonan, du syndrome LEOPARD et cette dernière description d’une patiente au syndrome CFC ont permis de participer à la découverte de l’implication d’une voie de signalisation cellulaire dont l’origine génétique est maintenant démontrée. Les résultats de nos travaux réalisés depuis 2002 auront permis, avec les équipes travaillant sur le même sujet, d’orienter les investigations et les nouveaux projets de recherche qui étudient spécifiquement le rôle du gène PTPN11 dans l’embryologie du cœur. Les études des orthologues (zebrafish, murin et Drosophila) porteurs à l’état hétérozygote d’une mutation du gène PTPN11 permettent d’intégrer les anomalies phénotypiques et cardiaques observées. Ces études permettent de postuler les effets cellulaires produits par les mutations chez les patients atteints du syndrome de Noonan et chez les patients atteints du syndrome LEOPARD engendrant in vitro une activation de la phosphatase (effet « gain de fonction ») pour les premiers ou une réduction de l’activité phosphatase (« dominant négatif ») mais engendrant un effet gain de fonction in vivo. Nous discutons les connaissances acquises, les compréhensions obtenues et intégrées et traçons enfin les perspectives offertes par ces travaux.


Doctorat en Sciences médicales
info:eu-repo/semantics/nonPublished

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Rondelet, Benoît. "Médiation humorale de l'hypertension artérielle pulmonaire dans un modèle de cardiopathie congénitale à shunt systémo-pulmonaire chez le porcelet en croissance". Doctoral thesis, Universite Libre de Bruxelles, 2008. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210373.

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Książki na temat "Heart – Diseases – Genetic aspects"

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Kåre, Berg, i Nora Audrey Hart 1936-, red. Cardiovascular diseases: Genetics, epidemiology, and prevention. New York: Oxford University Press, 1991.

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Alexander, Akhmedov, i Moe Gordon W, red. Post-genomic cardiology. Amsterdam: Elsevier/AP, Academic Press is an imprint of Elsevier, 2014.

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Danieli, Gian Antonio. Genetics and genomics for the cardiologist. Dordrecht: Kluwer Academic Pub., 2002.

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Muenke, Maximilian, Paul S. Kruszka, Craig A. Sable i John W. Belmont. Congenital heart disease: Molecular genetics, principles of diagnosis and treatment. Basel: Karger, 2015.

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J, Goldenthal Michael, Moe Gordon W i SpringerLink (Online service), red. Aging and the Heart: A Post-Genomic View. Boston, MA: Springer Science+Business Media, LLC, 2008.

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The Apoe gene diet: A breakthrough in lowering cholesterol, weight, and the risk of cardiovascular and Alzheimer's disease through knowledge of your body's genes. Santa Rosa, CA: Elite Books, 2007.

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McDonald, Pamela. Apo e gene diet. Livermore, CA: WingSpan Press, 2006.

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Mothers, babies and disease in later life. London: BMJ Pub. Group, 1994.

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Kaslow, Richard A. Genetic susceptibility to infectious diseases. New York: Oxford University Press, 2007.

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Society of General Physiologists. Symposium. Ion channels and genetic diseases. New York: Rockefeller University Press, 1995.

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Części książek na temat "Heart – Diseases – Genetic aspects"

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Meregalli, Paola G., Hanno L. Tan i Arthur A. M. Wilde. "Brugada Syndrome: Clinical and Genetic Aspects". W Electrical Diseases of the Heart, 469–95. London: Springer London, 2013. http://dx.doi.org/10.1007/978-1-4471-4881-4_28.

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Milewicz, Dianna M. "Genetic Aspects of Congenital Heart Disease". W Cardiovascular Medicine, 2599–605. London: Springer London, 2007. http://dx.doi.org/10.1007/978-1-84628-715-2_127.

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Herzum, M., S. A. Huber i B. Maisch. "Coxsackie B3 Myocarditis: Genetic Aspects of Different Immunopathogenic Mechanisms in BALB/c and DBA/2 Mice. Antigenic Specificity of Heart-Reactive Antibodies in DBA/2 Mice". W New Concepts in Viral Heart Disease, 188–94. Berlin, Heidelberg: Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/978-3-642-73610-0_18.

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Tester, David J., i Michael J. Ackerman. "Genetic Testing". W Electrical Diseases of the Heart, 315–32. London: Springer London, 2013. http://dx.doi.org/10.1007/978-1-4471-4978-1_20.

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Jensen, Bjarke, i Antoon F. M. Moorman. "Evolutionary Aspects of Cardiac Development". W Congenital Heart Diseases: The Broken Heart, 109–17. Vienna: Springer Vienna, 2016. http://dx.doi.org/10.1007/978-3-7091-1883-2_10.

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Fahed, Akl C. "Genetic Thoracic Aortic Diseases". W Adult Congenital Heart Disease in Clinical Practice, 431–44. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67420-9_30.

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Garicochea, Bernardo, i Rodrigo Santa Cruz Guindalini. "Practical Aspects of Genetic Counseling: Genetic Tests to Identify Risks". W Breast Diseases, 191–97. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-13636-9_21.

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Falchetti, Alberto, Francesca Giusti, Loredana Cavalli, Tiziana Cavalli i Maria Luisa Brandi. "Genetic Aspects of Hereditary Hyperparathyroidism". W Handbook of Parathyroid Diseases, 229–43. Boston, MA: Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-2164-1_14.

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Weder, Alan B. "Pathogenesis of Hypertension: Genetic and Environmental Factors". W Atlas of Heart Diseases, 1–33. London: Current Medicine Group, 2001. http://dx.doi.org/10.1007/978-1-4684-6909-7_1.

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Textoris, Julien, i Marc Leone. "Genetic Aspects of Uncommon Diseases". W Uncommon Diseases in the ICU, 3–11. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-04576-4_1.

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Streszczenia konferencji na temat "Heart – Diseases – Genetic aspects"

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Bhavani Shankar, Pagalla, i Yarlagadda Divya Vani. "Conceptual Glance of Genetic Algorithms in the Detection of Heart Diseases". W 2021 International Conference on Advances in Electrical, Computing, Communication and Sustainable Technologies (ICAECT). IEEE, 2021. http://dx.doi.org/10.1109/icaect49130.2021.9392604.

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Savarapu, Pradeep Raj, M. Shankar, Shilpa Itnal, Ram Kumar Madupu, CMAK Zeelan Basha i E. Sreedevi. "Advanced prediction of Heart diseases using Artificial Neural Network and Genetic Algorithm". W 2021 5th International Conference on Computing Methodologies and Communication (ICCMC). IEEE, 2021. http://dx.doi.org/10.1109/iccmc51019.2021.9418459.

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Liu, Chengcheng. "Strategies on healthy urban planning and construction for challenges of rapid urbanization in China". W 55th ISOCARP World Planning Congress, Beyond Metropolis, Jakarta-Bogor, Indonesia. ISOCARP, 2019. http://dx.doi.org/10.47472/subf4944.

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In the past 40 years, China has experienced the largest and fastest urbanization development in the world. The infrastructure, urban environment and medical services of cities have been improved significantly. The health impacts are manifested in the decrease of the incidence of infectious diseases and the significant increase of the life span of residents. However, the development of urbanization in China has also created many problems, including the increasing pollution of urban environment such as air, water and soil, the disorderly spread of urban construction land, the fragmentation of natural ecological environment, dense population, traffic congestion and so on. With the process of urbanization and motorization, the lifestyle of urban population has changed, and the disease spectrum and the sequence of death causes have changed. Chronic noncommunicable diseases have replaced acute infectious diseases and become the primary threat to urban public health. According to the data published by the famous medical journal The LANCET on China's health care, the economic losses caused by five major non-communicable diseases (ischemic heart disease, cerebrovascular disease, diabetes mellitus, breast cancer and chronic obstructive pulmonary disease) will reach US$23 trillion between 2012 and 2030, more than twice the total GDP of China in 2015 (US$11.7 trillion). Therefore, China proposes to implement the strategy of "Healthy China" and develop the policy of "integrating health into ten thousand strategies". Integrate health into the whole process of urban and rural planning, construction and governance to form a healthy, equitable and accessible production and living environment. China is building healthy cities through the above four strategies. The main strategies from national system design to local planning are as follows. First of all, the top-level design of the country. There are two main points: one point, the formulation of the Healthy China 2030 Plan determines the first batch of 38 pilot healthy cities and practices the strategy of healthy city planning; the other point, formulate and implement the national health city policy and issue the National Healthy City. The evaluation index system evaluates the development of local work from five aspects: environment, society, service, crowd and culture, finds out the weak links in the work in time, and constantly improves the quality of healthy city construction. Secondly, the reform of territorial spatial planning. In order to adapt to the rapid development of urbanization, China urban plan promote the reform of spatial planning system, change the layout of spatial planning into the fine management of space, and promote the sustainable development of cities. To delimit the boundary line of urban development and the red line of urban ecological protection and limit the disorderly spread of urban development as the requirements of space control. The bottom line of urban environmental quality and resource utilization are studied as capacity control and environmental access requirements. The grid management of urban built environment and natural environment is carried out, and the hierarchical and classified management unit is determined. Thirdly, the practice of special planning for local health and medical distribution facilities. In order to embody the equity of health services, including health equity, equity of health services utilization and equity of health resources distribution. For the elderly population, vulnerable groups and patients with chronic diseases, the layout of community health care facilities and intelligent medical treatment are combined to facilitate the "last kilometer" service of health care. Finally, urban repair and ecological restoration design are carried out. From the perspective of people-oriented, on the basis of studying the comfortable construction of urban physical environment, human behavior and the characteristics of human needs, to tackle "urban diseases" and make up for "urban shortboard". China is building healthy cities through the above four strategies. Committed to the realization of a constantly developing natural and social environment, and can continue to expand social resources, so that people can enjoy life and give full play to their potential to support each other in the city.
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Kol, Emre. "Dimensions of Health Tourism in Turkey". W 2nd International Conference on Business, Management and Finance. Acavent, 2019. http://dx.doi.org/10.33422/2nd.icbmf.2019.11.767.

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Recently, many people in various countries have preferred private healthcare organizations in Turkey for treatment. The most important reason for this situation is that medical operations performed with modern techniques in source countries are also performed in Turkey and at affordable prices. Because of the low cost, high quality, and technology standards, foreign patients prefer Turkish health institutions in almost every field such as plastic and aesthetic surgery, hair transplantation, eye surgery, in vitro fertilization, open-heart surgery, dermatological diseases, checkups, cancer treatments, otorhinolaryngology, dialysis, cardiovascular surgery, gynecology, neurosurgery, orthopedics, dentistry, spa, physiotherapy, and rehabilitation. The 2013 report of the United Nations World Tourism Organization (UNWTO) states that the number of international patients in Turkey has increased in recent years but is still behind the numbers of patients traveling for treatment purposes around the world. Important achievements, particularly in the fields of transplantation, genetic testing, eye surgery, cardiology, orthopedics, plastic surgery, and dentistry, bring Turkey to the forefront of health tourism. This study emphasizes the economic dimensions of health tourism by discussing the improvement of health tourism in Turkey. Advantages, disadvantages, and future opportunities for health tourism in Turkey are examined in terms of diversification of the country’s tourism, economic dimensions, and alternative tourism opportunities. In this context, the study mentions the notion of health tourism, boosting health tourism around the world and in Turkey, and the place and economic dimension of Turkey within world health tourism.
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Rahmawati, Dian. "Psychososial Stimulation in Stunting and Non Stunting Firms". W The 7th International Conference on Public Health 2020. Masters Program in Public Health, Universitas Sebelas Maret, 2020. http://dx.doi.org/10.26911/the7thicph.03.24.

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ABSTRACT Background: Stunting is a condition of growth failure among children under five due to chronic malnutrition. According to World Health Organization (WHO), stunting under five is a public health problem if the prevalence is 20% or more. In 2018, stunting in Indonesia is more than 20%, so it becomes a public health problem and needs to be addressed immediately. Stunting does not only affect physical growth but also psychosocial development. Stunting can reduce the quality of human resources (HR) because the body’s organs, especially the brain, are not able to develop optimally, and increase the risk of diseases such as hypertension, diabetes mellitus, heart disease, and stroke. The low psychosocial stimulation has an impact on the subsequent growth of the child. This study aimed to analyze the association between psychosocial stimulation and stunting. Subjects and Method: A case control study was conducted in the Village Bangkok, Kediri, East Java, in August 2020. A total sample of 25 stunting children aged 24-59 months was obtained as a case group and 25 normal toddlers aged 24-59 months as a control group. The dependent variable was the incidence of stunting, while the independent variable was psychosocial stimulation. The stunting measurement was based on the height per age (converted into a Z-score). Measurement of psychosocial stimulation was using the Home Observation for Measurement of the Environment Revisited (HOME) questionnaire consists of 55 statements divided into 8 aspects. The data were collected and analyzed using the Chi Square test. Results: Stunting children showed that psychosocial stimulation were low (20%), medium (64%), and high (16%). While psychosocial stimulation among not stunted children were absent (0%), medium (64%), and high (36%). Psychosocial stimulation was associated with the incidence of stunting (p= 0.031), and it was statistically significant. Conclusion: Psychological stimulation is associated with the incidence of stunting. The psychosocial stimulation provided by families for stunting toddlers is still less than that of non-stunting children. Keywords: stunting, psychosocial stimulation, children under five Correspondence: Dian Rahmawati. Academy of Midwifery of Dharma Husada. Jl. Penanggungan 41A Kediri City 64114, East Java. Email: lintangkayana31@gmail.com. Mobile: +6285645076003. DOI: https://doi.org/10.26911/the7thicph.03.24
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