Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function

2013 ◽  
Vol 44 (05) ◽  
pp. 268-271 ◽  
Author(s):  
Moneef Shoukier ◽  
Sigrid Fuchs ◽  
Eva Schwaibold ◽  
Michael Lingen ◽  
Jutta Gärtner ◽  
...  
2017 ◽  
Vol 173 (3) ◽  
pp. 716-720 ◽  
Author(s):  
Caroline McCool ◽  
Adiaha Spinks-Franklin ◽  
Lenora M. Noroski ◽  
Lorraine Potocki

2019 ◽  
pp. 137-143
Author(s):  
Dennys Christovel Dese ◽  
Cahyo Wibowo

Peningkatan jumlah lansia setiap tahunnya harus dijadikan perhatian, akibat adanya peningkatan jumlah lansia masalah yang dihadapi akan menjadi semakin kompleks, salah satunya adalah masalah yang berkaitan dengan gejala penuaan. Menurunnya kapasitas intelektual berhubungan erat dengan fungsi kognitif pada lansia. Aktivitas fisik diidentifikasi sebagai salah satu faktor yang mempengaruhi fungsi kognitif. Aktivitas fisik bermanfaat untuk lansia sebagai pencegahan dan demensia. Penelitian ini merupakan penelitian analitik observasional dengan menggunakan pendekatan cross sectional. Penelitian dilakukan di yayasan sosial Panti Wredha Salib Putih Salatiga pada bulan Juni 2018. Populasi dalam penelitian ini adalah lansia yang berumur ?60 tahun. Subjek pada penelitian ini berjumlah 16 responden. Variabel independen dalam penelitian ini adalah aktivitas fisik yang dinilai dengan menggunakan instrument GPAQ. Sedangkan variabel dependen dalam penelitian ini adalah fungsi kognitif yang dinilai dengan instrument MMSE. Terdapat 4 orang (25%) yang masuk dalam kategori fungsi kognitif normal dengan kategori aktifitas fisik sedang 1 orang dan aktifitas berat 3 orang, kemudian yang termasuk dalam kategori gangguan fungsi kognitif ringan sebanyak 11 orang (68,75%), dengan kategori aktifitas fisik sedang 8 orang dan aktifitas ringan 3 orang. Sedangkan yang termasuk dalam kategori gangguan fungsi kognitif berat, terdapat 1 orang (6,25%) dengan kategori aktifitasnya ringan. Taraf signifikansi antar variabel tingkat aktifitas fisik dan fungsi kognitif pada lansia adalah p=0.007 atau p<0,05, sehingga dapat disimpulkan ada  hubungan antara tingkat aktifitas fisik dengan fungsi kognitif pada lansia.   Increasing the number of elderly people every year should be a concern, due to an increase in the number of elderly problems faced will become increasingly complex, one of which is a problem related to the symptoms of aging. Decreased intellectual capacity is closely related to cognitive function in the elderly. Physical activity is identified as one of the factors that influence cognitive function. Physical activity is beneficial for the elderly as prevention and dementia. This study was an observational analytic study using a cross sectional approach. The study was conducted at the social foundation nursing home in the white cross in June 2018. The population in this study was elderly aged ≥60 years. The subjects in this study were 16 respondents. The independent variable in this study is physical activity that is assessed using the GPAQ instrument. While the dependent variable in this study was cognitive function which was assessed by the MMSE instrument. There are 4 people (25%) who fall into the category of normal cognitive function with moderate physical activity categories 1 person and heavy activities 3 people, then those included in the category of mild cognitive function disorders are 11 people (68.75%), with the category of physical activity being 8 people and 3 light activities. While those included in the category of severe cognitive function disorders, there is 1 person (6.25%) with a mild activity category. The significance level between the level of physical activity and cognitive function in the elderly is p = 0.007 or p <0.05, so it can be concluded that there is a relationship between the level of physical activity and cognitive function in the elderly.


2020 ◽  
Vol 16 (14) ◽  
pp. 1309-1315
Author(s):  
Peilin An ◽  
Xuan Zhou ◽  
Yue Du ◽  
Jiangang Zhao ◽  
Aili Song ◽  
...  

Background: Inflammation plays a significant role in the pathophysiology of cognitive impairment in previous studies. Neutrophil-lymphocyte ratio (NLR) is a reliable measure of systemic inflammation. Objective: The aim of this study was to investigate the association between NLR and mild cognitive impairment (MCI), and further to explore the diagnostic potential of the inflammatory markers NLR for the diagnosis of MCI in elderly Chinese individuals. Methods: 186 MCI subjects and 153 subjects with normal cognitive function were evaluated consecutively in this study. Neutrophil (NEUT) count and Lymphocyte (LYM) count were measured in fasting blood samples. The NLR was calculated by dividing the absolute NEUT count by the absolute LYM count. Multivariable logistic regression was used to evaluate the potential association between NLR and MCI. NLR for predicting MCI was analyzed using Receiver Operating Characteristic (ROC) curve analysis. Results: The NLR of MCI group was significantly higher than that of subjects with normal cognitive function (2.39 ± 0.55 vs. 1.94 ± 0.51, P < 0.001). Logistic regression analysis showed that higher NLR was an independent risk factor for MCI (OR: 4.549, 95% CI: 2.623-7.889, P < 0.001). ROC analysis suggested that the optimum NLR cut-off point for MCI was 2.07 with 73.66% sensitivity, 69.28% specificity, 74.48% Positive Predictive Values (PPV) and 68.36% negative predictive values (NPV). Subjects with NLR ≥ 2.07 showed higher risk relative to NLR < 2.07 (OR: 5.933, 95% CI: 3.467-10.155, P < 0.001). Conclusion: The elevated NLR is significantly associated with increased risk of MCI. In particular, NLR level higher than the threshold of 2.07 was significantly associated with the probability of MCI.


2021 ◽  
Vol 7 (13) ◽  
pp. eabf3072
Author(s):  
Y. Nagayoshi ◽  
T. Chujo ◽  
S. Hirata ◽  
H. Nakatsuka ◽  
C.-W. Chen ◽  
...  

FtsJ RNA 2′-O-methyltransferase 1 (FTSJ1) gene has been implicated in X-linked intellectual disability (XLID), but the molecular pathogenesis is unknown. We show that Ftsj1 is responsible for 2′-O-methylation of 11 species of cytosolic transfer RNAs (tRNAs) at the anticodon region, and these modifications are abolished in Ftsj1 knockout (KO) mice and XLID patient–derived cells. Loss of 2′-O-methylation in Ftsj1 KO mouse selectively reduced the steady-state level of tRNAPhe in the brain, resulting in a slow decoding at Phe codons. Ribosome profiling showed that translation efficiency is significantly reduced in a subset of genes that need to be efficiently translated to support synaptic organization and functions. Ftsj1 KO mice display immature synaptic morphology and aberrant synaptic plasticity, which are associated with anxiety-like and memory deficits. The data illuminate a fundamental role of tRNA modification in the brain through regulation of translation efficiency and provide mechanistic insights into FTSJ1-related XLID.


Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 586 ◽  
Author(s):  
Hamilton Roschel ◽  
Bruno Gualano ◽  
Sergej M. Ostojic ◽  
Eric S. Rawson

There is a robust and compelling body of evidence supporting the ergogenic and therapeutic role of creatine supplementation in muscle. Beyond these well-described effects and mechanisms, there is literature to suggest that creatine may also be beneficial to brain health (e.g., cognitive processing, brain function, and recovery from trauma). This is a growing field of research, and the purpose of this short review is to provide an update on the effects of creatine supplementation on brain health in humans. There is a potential for creatine supplementation to improve cognitive processing, especially in conditions characterized by brain creatine deficits, which could be induced by acute stressors (e.g., exercise, sleep deprivation) or chronic, pathologic conditions (e.g., creatine synthesis enzyme deficiencies, mild traumatic brain injury, aging, Alzheimer’s disease, depression). Despite this, the optimal creatine protocol able to increase brain creatine levels is still to be determined. Similarly, supplementation studies concomitantly assessing brain creatine and cognitive function are needed. Collectively, data available are promising and future research in the area is warranted.


2021 ◽  
pp. 089826432199656
Author(s):  
Changmin Peng ◽  
Jeffrey A. Burr ◽  
Dong Yang ◽  
Nan Lu

Objectives: Framed within a life course perspective and cognitive reserve theory, this study examined the mediating role of educational attainment for the association between child–parent relationships during childhood and cognitive function among older adults in rural China. Methods: Data were obtained from three waves of the China Health and Retirement Longitudinal Study ( N = 9809). We employed latent growth curve modeling to test the association among early child–parent relationship quality, educational attainment, and cognitive function in later life. Results: Early child–mother relationship quality was associated with the level and change in cognitive function. Early child–father relationship quality was only related to baseline cognitive function. Educational attainment mediated the relationship between early child–parent relationship quality with mothers and fathers and cognitive function. Discussion: Parental relationship experience in childhood was one distal factor related to cognitive function among older adults. The findings supported the long-term impacts of childhood conditions for later life health consequences.


2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 598-598
Author(s):  
Ruixue Zhaoyang ◽  
Stacey Scott ◽  
Eric Cerino ◽  
Martin Sliwinski

Abstract Social relationships play an important role in cognitive health and aging. However, it is unclear how older adult’s cognitive function affects their everyday social interactions, especially for those with mild cognitive impairment (MCI). This study examined whether older adults with intact cognition vs. MCI differed in their daily social interactions. Community-dwelling older adults from the Einstein Aging Study (N=244, 70-91 yrs) reported their social interactions five times daily for 14 consecutive days using smartphones. Compared to those with normal cognitive function, older adults with MCI reported less frequent positive social interactions (p=0.012) and in-person social activities (p=0.006) on a daily basis. These two groups, however, did not show significant differences in their social relationships assessed by a conventional global questionnaire. The results support that, relative to global social relationships, daily social interactions are more sensitive, ecologically valid social markers that can facilitate the early detection of MCI.


2005 ◽  
Vol 53 (1) ◽  
pp. S148.3-S148
Author(s):  
E. Zuckerbraun ◽  
M. Garcia ◽  
B. Tran ◽  
Bhasin S. T.C. Friedman

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