Inflammatory cardiomyopathy of possibly overlapping aetiology: a case posing treatment dilemma and potential association

Background: The timely identification of traditional and non-traditional precursors and risk factors for chronic kidney disease (CKD) (a common systemic disease defined as a decreased kidney function documented by reduced glomerular filtration rate, or markers of kidney damage, or both) is relevant in clinical practice, as CKD increases the risk of end-stage renal disease and other serious comorbidities. A possible relationship between non-alcoholic fatty liver disease (NAFLD) (which is to date the most common chronic disease worldwide) and CKD has recently gained significant attention of researchers. Methods : A systematic literature search using appropriate keywords was made in order to identify relevant articles that have investigated the association between NAFLD and CKD. Results: Several observational studies and meta-analyses have reported the existence of an independent association between NAFLD and risk of CKD in patients with and without diabetes. However, whilst the association between NAFLD and risk of prevalent CKD is strong across various patient populations, whether NAFLD is independently associated with the development and progression of CKD is still debatable. Moreover, emerging evidence now suggests a potential association between patatin-like phospholipase domain-containing protein-3 (PNPLA3) rs738409 genotype (the most important genetic variant associated to NAFLD) and decreasing kidney function, independent of NAFLD. Conclusions : Convincing evidence now indicates that CKD is increased among patients with NAFLD. For this reason, patients with NAFLD should be regularly monitored for renal function and, on the other hand , NAFLD should be considered in all patients with CKD, especially if they are obese or have type 2 diabetes.

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Analysis of HLA-G long-read genomic sequences in mother–offspring pairs with preeclampsia

Scientific Reports ◽

10.1038/s41598-020-77081-3 ◽

2020 ◽

Vol 10 (1) ◽

Author(s):

Ayako Nishizawa ◽

Kazuki Kumada ◽

Keiko Tateno ◽

Maiko Wagata ◽

Sakae Saito ◽

...

Keyword(s):

Single Molecule ◽

Gene Polymorphisms ◽

Genomic Dna ◽

Genomic Sequences ◽

Genomic Sequencing ◽

Public Database ◽

Coding Sequences ◽

Pacbio Rs Ii ◽

Potential Association ◽

Long Read

AbstractPreeclampsia is a pregnancy-induced disorder that is characterized by hypertension and is a leading cause of perinatal and maternal–fetal morbidity and mortality. HLA-G is thought to play important roles in maternal–fetal immune tolerance, and the associations between HLA-G gene polymorphisms and the onset of pregnancy-related diseases have been explored extensively. Because contiguous genomic sequencing is difficult, the association between the HLA-G genotype and preeclampsia onset is controversial. In this study, genomic sequences of the HLA-G region (5.2 kb) from 31 pairs of mother–offspring genomic DNA samples (18 pairs from normal pregnancies/births and 13 from preeclampsia births) were obtained by single-molecule real-time sequencing using the PacBio RS II platform. The HLA-G alleles identified in our cohort matched seven known HLA-G alleles, but we also identified two new HLA-G alleles at the fourth-field resolution and compared them with nucleotide sequences from a public database that consisted of coding sequences that cover the 3.1-kb HLA-G gene span. Intriguingly, a potential association between preeclampsia onset and the poly T stretch within the downstream region of the HLA-G*01:01:01:01 allele was found. Our study suggests that long-read sequencing of HLA-G will provide clues for characterizing HLA-G variants that are involved in the pathophysiology of preeclampsia.

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FDA Investigating Potential Association between CellCept, Myfortic, and PML

Oncology Times ◽

10.1097/01.cot.0000335291.97586.56 ◽

2008 ◽

Vol 30 (16) ◽

pp. 10

Author(s):

&NA;

Keyword(s):

Potential Association

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Genotype–phenotype correlation in GNB1 ‐related neurodevelopmental disorder: Potential association of p. Leu95Pro with cleft palate

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.62080 ◽

2021 ◽

Author(s):

Lisa A. Lansdon ◽

Carol J. Saunders

Keyword(s):

Cleft Palate ◽

Neurodevelopmental Disorder ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation ◽

Potential Association ◽

Disorder Potential

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Targeted treatment in viral‐associated inflammatory cardiomyopathy

Clinical Case Reports ◽

10.1002/ccr3.4518 ◽

2021 ◽

Vol 9 (7) ◽

Author(s):

Ahmad Amin ◽

Sepideh Taghavi ◽

Maryam Chenaghlou ◽

Elahe Zare ◽

Monireh Kamali ◽

...

Keyword(s):

Targeted Treatment ◽

Inflammatory Cardiomyopathy

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The potential role of plasma miR‐155 and miR‐206 as circulatory biomarkers in inflammatory cardiomyopathy

ESC Heart Failure ◽

10.1002/ehf2.13304 ◽

2021 ◽

Author(s):

Danilo Obradovic ◽

Karl‐Philipp Rommel ◽

Stephan Blazek ◽

Karin Klingel ◽

Matthias Gutberlet ◽

...

Keyword(s):

Potential Role ◽

Inflammatory Cardiomyopathy

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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Nature Communications ◽

10.1038/s41467-021-22262-5 ◽

2021 ◽

Vol 12 (1) ◽

Author(s):

Zhongbo Chen ◽

◽

David Zhang ◽

Regina H. Reynolds ◽

Emil K. Gustavsson ◽

...

Keyword(s):

Neurological Diseases ◽

Purifying Selection ◽

Whole Genome Sequencing Data ◽

Human Lineage ◽

Sequencing Data ◽

Protein Coding ◽

Potential Association ◽

High Depth ◽

Specific Sequences ◽

Human Specific

AbstractKnowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. We propose that these constrained, non-conserved regions (CNCRs) have been subject to human-specific purifying selection and are enriched for brain-specific elements. We find that CNCRs are depleted from protein-coding genes but enriched within lncRNAs. We demonstrate that per-SNP heritability of a range of brain-relevant phenotypes are enriched within CNCRs. We find that genes implicated in neurological diseases have high CNCR density, including APOE, highlighting an unannotated intron-3 retention event. Using human brain RNA-sequencing data, we show the intron-3-retaining transcript to be more abundant in Alzheimer’s disease with more severe tau and amyloid pathological burden. Thus, we demonstrate potential association of human-lineage-specific sequences in brain development and neurological disease.

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The Effect of Alcohol on Telomere Length: A Systematic Review of Epidemiological Evidence and a Pilot Study during Pregnancy

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18095038 ◽

2021 ◽

Vol 18 (9) ◽

pp. 5038

Author(s):

Andrea Maugeri ◽

Martina Barchitta ◽

Roberta Magnano San Lio ◽

Maria Clara La Rosa ◽

Claudia La Mastra ◽

...

Keyword(s):

Systematic Review ◽

Pilot Study ◽

Alcohol Consumption ◽

Telomere Length ◽

Molecular Mechanisms ◽

Epidemiological Studies ◽

Potential Association ◽

Significant Difference ◽

Periconceptional Period ◽

Using Data

Several studies—albeit with still inconclusive and limited findings—began to focus on the effect of drinking alcohol on telomere length (TL). Here, we present results from a systematic review of these epidemiological studies to investigate the potential association between alcohol consumption, alcohol-related disorders, and TL. The analysis of fourteen studies—selected from PubMed, Medline, and Web of Science databases—showed that people with alcohol-related disorders exhibited shorter TL, but also that alcohol consumption per se did not appear to affect TL in the absence of alcohol abuse or dependence. Our work also revealed a lack of studies in the periconceptional period, raising the need for evaluating this potential relationship during pregnancy. To fill this gap, we conducted a pilot study using data and samples form the Mamma & Bambino cohort. We compared five non-smoking but drinking women with ten non-smoking and non-drinking women, matched for maternal age, gestational age at recruitment, pregestational body mass index, and fetal sex. Interestingly, we detected a significant difference when analyzing relative TL of leukocyte DNA of cord blood samples from newborns. In particular, newborns from drinking women exhibited shorter relative TL than those born from non-drinking women (p = 0.024). Although these findings appeared promising, further research should be encouraged to test any dose–response relationship, to adjust for the effect of other exposures, and to understand the molecular mechanisms involved.

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