Intergenerational Continuity in Cannabis Use: The Role of Parent's Early Onset and Lifetime Disorder on Child's Early Onset

: Alzheimer’s disease (AD) is a progressive brain disorder and one of the most common causes of dementia and death. AD can be of two types; early-onset and late-onset, where late-onset AD occurs sporadically while early-onset AD results from a mutation in any of the three genes that include amyloid precursor protein (APP), presenilin 1 (PSEN 1) and presenilin 2 (PSEN 2). Biologically, AD is defined by the presence of the distinct neuropathological profile that consists of the extracellular β-amyloid (Aβ) deposition in the form of diffuse neuritic plaques, intraneuronal neurofibrillary tangles (NFTs) and neuropil threads; in dystrophic neuritis, consisting of aggregated hyperphosphorylated tau protein. Elevated levels of (Aβ), total tau (t-tau) and phosphorylated tau (ptau) in cerebrospinal fluid (CSF) have become an important biomarker for the identification of this neurodegenerative disease. The aggregation of Aβ peptide derived from amyloid precursor protein initiates a series of events that involve inflammation, tau hyperphosphorylation and its deposition, in addition to synaptic dysfunction and neurodegeneration, ultimately resulting in dementia. The current review focuses on the role of proteomes in the pathogenesis of AD.

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Early onset of overweight among children from low‐income families: The role of exclusive breastfeeding and maternal intake of ultra‐processed food

Pediatric Obesity ◽

10.1111/ijpo.12825 ◽

2021 ◽

Author(s):

Jayanne Mayara Magalhães Melo ◽

Bruna Larine Lemos Fontes Silva Dourado ◽

Risia Cristina Egito Menezes ◽

Giovana Longo‐Silva ◽

Jonas Augusto Cardoso Silveira

Keyword(s):

Low Income ◽

Exclusive Breastfeeding ◽

Early Onset ◽

Processed Food ◽

Low Income Families

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Comparative effects of incretin-based therapy on early-onset diabetic nephropathy in rats: Role of TNF-α, TGF-β and c-caspase-3

Life Sciences ◽

10.1016/j.lfs.2021.119624 ◽

2021 ◽

pp. 119624

Author(s):

Heba A. Habib ◽

Gehan H. Heeba ◽

Mohamed M.A. Khalifa

Keyword(s):

Diabetic Nephropathy ◽

Early Onset ◽

Caspase 3 ◽

Tnf Α

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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

International Journal of Molecular Sciences ◽

10.3390/ijms22126410 ◽

2021 ◽

Vol 22 (12) ◽

pp. 6410

Author(s):

Vasily Smirnov ◽

Olivier Grunewald ◽

Jean Muller ◽

Christina Zeitz ◽

Carolin D. Obermaier ◽

...

Keyword(s):

Early Onset ◽

Retinal Dystrophy ◽

Copy Number Variants ◽

Cone Dystrophy ◽

The Novel ◽

Targeted Next Generation Sequencing ◽

Large Deletions ◽

Gene Panels ◽

Generation Sequencing

Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5-associated patients might be due to the presence of additional gene defects.

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Cannabis Use and Electronic Cigarette Use: The Role of Dual Use on Use Frequency and Related Problems

Psychiatry Research ◽

10.1016/j.psychres.2021.114126 ◽

2021 ◽

pp. 114126

Author(s):

Julia D. Buckner ◽

Paige E. Morris ◽

Michael J. Zvolensky

Keyword(s):

Cannabis Use ◽

Electronic Cigarette ◽

Cigarette Use ◽

Dual Use

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The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer

Familial Cancer ◽

10.1007/s10689-015-9832-x ◽

2015 ◽

Vol 15 (1) ◽

pp. 111-121 ◽

Cited By ~ 15

Author(s):

Sofia Maia ◽

Marta Cardoso ◽

Paula Paulo ◽

Manuela Pinheiro ◽

Pedro Pinto ◽

...

Keyword(s):

Prostate Cancer ◽

Mismatch Repair ◽

Early Onset ◽

Germline Mutations ◽

Mismatch Repair Genes ◽

Repair Genes

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An Obesity-RelatedFTOVariant and the Risk of Preeclampsia in a Finnish Study Population

Journal of Pregnancy ◽

10.1155/2011/251470 ◽

2011 ◽

Vol 2011 ◽

pp. 1-7 ◽

Cited By ~ 3

Author(s):

Miira Klemetti ◽

Leena M. Hiltunen ◽

Sanna Heino ◽

Seppo Heinonen ◽

Eero Kajantie ◽

...

Keyword(s):

Blood Pressure ◽

Type 2 Diabetes ◽

Early Onset ◽

Elevated Blood ◽

Study Population ◽

Normotensive Pregnancy ◽

Finnish Study ◽

Risk Of Preeclampsia

Previous studies have demonstrated a common variant of the obesity and fat mass-relatedFTOgene, rs9939609, to be associated with obesity, type 2 diabetes, and elevated blood pressure. We investigated whether theFTOSNP rs9939609 is associated with the risk of preeclampsia (PE) in a Finnish study population. 485 women with prior PE and 449 women who had given birth after a normotensive pregnancy were genotyped (TaqMan) for the SNP rs9939609. The prevalences of genotypes AA, AT, and TT were 15%, 53%, and 32%, respectively, among the PE cases, and 16%, 47%, and 37%, respectively, among the controls (P=0.199). We found no evidence of an association between theFTOSNP rs9939609 and PE. However, our cases were dominated by severe, early-onset PE. Thus, we are unable to exclude an association with the milder, later-onset form of the disease in which the role of maternal metabolic predisposition could be more significant.Erratum to “An Obesity-RelatedFTOVariant and the Risk of Preeclampsia in a Finnish Study Population”

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