مقاله شماره ۳۵
#Neurology
#NeuroScience
#Genetic
عنوان:
Expansion of GGC Repeat in the Human-Specific NOTCH2NLC Gene Is Associated With Essential Tremor
مجله:
Brain: A Journal of Neurology
نوع مطالعه:
Cohort Study
تاریخ انتشار:
Dec, 09, 2019
سایتیشن:
Sun et al.
چکیده:
Essential tremor is one of the most common movement disorders. Despite its high prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to now, only a few genes/loci have been identified, but these genes have not been replicated in other essential tremor families or cohorts. Here we report a genetic study in a cohort of 197 Chinese pedigrees clinically diagnosed with essential tremor. Using a comprehensive strategy combining linkage analysis, whole-exome sequencing, long-read whole-genome sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal GGC repeat expansion in the 5′ region of the NOTCH2NLC gene that co-segregated with disease in 11 essential tremor families (5.58%) from our cohort. Clinically, probands that had an abnormal GGC repeat expansion were found to have more severe tremor phenotypes, lower activities of daily living ability. Obvious genetic anticipation was also detected in these 11 essential tremor-positive families. These results indicate that abnormal GGC repeat expansion in the 5′ region of NOTCH2NLC gene is associated with essential tremor, and provide strong evidence that essential tremor is a family of diseases with high clinical and genetic heterogeneities.
توضیحات مهم:
✔ نویسندگان این مطالعه به بررسی علل ژنتیکی احتمالی Essential Tremor فمیلیال در 197 شجره چینی پرداختند.
✔ آنها 11 خانواده با یک تری نوکلئوتید GGC تکرار شده در ژن NOTCH2NLC با پیش بینی ژنتیکی essential tremor پیدا کردند. این ژن همچنین در بیماری neuronal intranuclear inclusion نقش دارد.
✔ در حال حاضر ، مشخص نیست که چگونه این ژن بر فنوتیپ تأثیر می گذارد. با این حال ، این گزارش نشان دهنده اهمیت تکنیک های جدید توالی ژنتیکی در درک پاتوفیزیولوژی پیچیده اختلالات عصبی است.
🔎 @Meditorha
#Neurology
#NeuroScience
#Genetic
عنوان:
Expansion of GGC Repeat in the Human-Specific NOTCH2NLC Gene Is Associated With Essential Tremor
مجله:
Brain: A Journal of Neurology
نوع مطالعه:
Cohort Study
تاریخ انتشار:
Dec, 09, 2019
سایتیشن:
Sun et al.
چکیده:
Essential tremor is one of the most common movement disorders. Despite its high prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to now, only a few genes/loci have been identified, but these genes have not been replicated in other essential tremor families or cohorts. Here we report a genetic study in a cohort of 197 Chinese pedigrees clinically diagnosed with essential tremor. Using a comprehensive strategy combining linkage analysis, whole-exome sequencing, long-read whole-genome sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal GGC repeat expansion in the 5′ region of the NOTCH2NLC gene that co-segregated with disease in 11 essential tremor families (5.58%) from our cohort. Clinically, probands that had an abnormal GGC repeat expansion were found to have more severe tremor phenotypes, lower activities of daily living ability. Obvious genetic anticipation was also detected in these 11 essential tremor-positive families. These results indicate that abnormal GGC repeat expansion in the 5′ region of NOTCH2NLC gene is associated with essential tremor, and provide strong evidence that essential tremor is a family of diseases with high clinical and genetic heterogeneities.
توضیحات مهم:
✔ نویسندگان این مطالعه به بررسی علل ژنتیکی احتمالی Essential Tremor فمیلیال در 197 شجره چینی پرداختند.
✔ آنها 11 خانواده با یک تری نوکلئوتید GGC تکرار شده در ژن NOTCH2NLC با پیش بینی ژنتیکی essential tremor پیدا کردند. این ژن همچنین در بیماری neuronal intranuclear inclusion نقش دارد.
✔ در حال حاضر ، مشخص نیست که چگونه این ژن بر فنوتیپ تأثیر می گذارد. با این حال ، این گزارش نشان دهنده اهمیت تکنیک های جدید توالی ژنتیکی در درک پاتوفیزیولوژی پیچیده اختلالات عصبی است.
🔎 @Meditorha
مقاله شماره ۳۶
#Neurology
#NeuroScience
#Psychiatry
عنوان:
Sleep duration, midday napping, and sleep quality and incident stroke
مجله:
Neurology
نوع مطالعه:
Cohort Study
تاریخ انتشار:
Dec, 11, 2019
سایتیشن:
Zhou et al.
چکیده:
Objective To investigate the associations of sleep duration, midday napping, sleep quality, and change in sleep duration with risk of incident stroke and stroke subtypes.
Methods Among 31,750 participants aged 61.7 years on average at baseline from the Dongfeng-Tongji cohort, we used Cox regression models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for incident stroke.
Results Compared with sleeping 7 to <8 hours/night, those reporting longer sleep duration (≥9 hours/night) had a greater risk of total stroke (hazard ratio [HR] 1.23; 95% confidence interval [CI] 1.07–1.41), while shorter sleep (<6 hours/night) had no significant effect on stroke risk. The HR (95% CI) of total stroke was 1.25 (1.03–1.53) for midday napping >90 minutes vs 1–30 minutes. The results were similar for ischemic stroke. Compared with good sleep quality, those with poor sleep quality showed a 29%, 28%, and 56% higher risk of total, ischemic, and hemorrhagic stroke, respectively. Moreover, we observed significant joint effects of sleeping ≥9 hours/night and midday napping >90 minutes (HR 1.85; 95% CI 1.28–2.66), and sleeping ≥9 hours/night and poor sleep quality (HR 1.82; 95% CI 1.33–2.48) on risk of total stroke. Furthermore, compared with persistently sleeping 7–9 hours/night, those who persistently slept ≥9 hours/night or switched from 7 to 9 hours to ≥9 hours/night had a higher risk of total stroke.
Conclusions Long sleep duration, long midday napping, and poor sleep quality were independently and jointly associated with higher risks of incident stroke. Persistently long sleep duration or switch from average to long sleep duration increased the risk of stroke.
https://doi.org/10.1212/WNL.0000000000008739
توضیحات مهم:
✔ خواب طولانی ریسک سکته ی مغزی را افزایش می دهد !
یک مطالعه با بررسی ۳۱۷۵۰ نفر به این نتیجه رسیده است که خواب شبانه بیش از ۹ ساعت (در مقایسه با خواب بین ۷ تا کمتر از ۸ ساعت) ریسک سکته ی مغزی را افزایش می دهد. این در حالی است که خواب کمتر از ۶ ساعت چنین تاثیری ندارد. از سوی دیگر این مطالعه نشان داده است که خواب نیمروزی بیش از ۹۰ دقیقه نیز می تواند ریسک سکته ی مغزی را افزایش دهد.
🔎 @Meditorha
#Neurology
#NeuroScience
#Psychiatry
عنوان:
Sleep duration, midday napping, and sleep quality and incident stroke
مجله:
Neurology
نوع مطالعه:
Cohort Study
تاریخ انتشار:
Dec, 11, 2019
سایتیشن:
Zhou et al.
چکیده:
Objective To investigate the associations of sleep duration, midday napping, sleep quality, and change in sleep duration with risk of incident stroke and stroke subtypes.
Methods Among 31,750 participants aged 61.7 years on average at baseline from the Dongfeng-Tongji cohort, we used Cox regression models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for incident stroke.
Results Compared with sleeping 7 to <8 hours/night, those reporting longer sleep duration (≥9 hours/night) had a greater risk of total stroke (hazard ratio [HR] 1.23; 95% confidence interval [CI] 1.07–1.41), while shorter sleep (<6 hours/night) had no significant effect on stroke risk. The HR (95% CI) of total stroke was 1.25 (1.03–1.53) for midday napping >90 minutes vs 1–30 minutes. The results were similar for ischemic stroke. Compared with good sleep quality, those with poor sleep quality showed a 29%, 28%, and 56% higher risk of total, ischemic, and hemorrhagic stroke, respectively. Moreover, we observed significant joint effects of sleeping ≥9 hours/night and midday napping >90 minutes (HR 1.85; 95% CI 1.28–2.66), and sleeping ≥9 hours/night and poor sleep quality (HR 1.82; 95% CI 1.33–2.48) on risk of total stroke. Furthermore, compared with persistently sleeping 7–9 hours/night, those who persistently slept ≥9 hours/night or switched from 7 to 9 hours to ≥9 hours/night had a higher risk of total stroke.
Conclusions Long sleep duration, long midday napping, and poor sleep quality were independently and jointly associated with higher risks of incident stroke. Persistently long sleep duration or switch from average to long sleep duration increased the risk of stroke.
https://doi.org/10.1212/WNL.0000000000008739
توضیحات مهم:
✔ خواب طولانی ریسک سکته ی مغزی را افزایش می دهد !
یک مطالعه با بررسی ۳۱۷۵۰ نفر به این نتیجه رسیده است که خواب شبانه بیش از ۹ ساعت (در مقایسه با خواب بین ۷ تا کمتر از ۸ ساعت) ریسک سکته ی مغزی را افزایش می دهد. این در حالی است که خواب کمتر از ۶ ساعت چنین تاثیری ندارد. از سوی دیگر این مطالعه نشان داده است که خواب نیمروزی بیش از ۹۰ دقیقه نیز می تواند ریسک سکته ی مغزی را افزایش دهد.
🔎 @Meditorha
Neurology
Sleep duration, midday napping, and sleep quality and incident stroke
Objective To investigate the associations of sleep duration, midday napping, sleep quality, and change in sleep duration with risk of incident stroke and stroke subtypes.
Methods Among 31,750 participants aged 61.7 years on average at baseline from the Dongfeng…
Methods Among 31,750 participants aged 61.7 years on average at baseline from the Dongfeng…