2018
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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Abstract: Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NG… Show more
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“…The overall diagnostic yield equals 78.6%, with the STGD sub-cohort reaching 88.4% detection rate ( Table 2 and Figure 3 ). Moreover, similar to previously reported findings [ 13 , 14 ], ABCA4 ( n = 75), PRPH2 ( n = 17), and BEST1 ( n = 10) are the most common contributors in our cohort ( Figure 3 ).…”
Section: Resultssupporting
confidence: 92%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD).
Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD.
The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC).
Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…The overall diagnostic yield equals 78.6%, with the STGD sub-cohort reaching 88.4% detection rate ( Table 2 and Figure 3 ). Moreover, similar to previously reported findings [ 13 , 14 ], ABCA4 ( n = 75), PRPH2 ( n = 17), and BEST1 ( n = 10) are the most common contributors in our cohort ( Figure 3 ).…”
Section: Resultssupporting
confidence: 92%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD).
Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD.
The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC).
Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…The overall diagnostic yield equals 78.6%, with the STGD subcohort reaching 88.4% detection rate (Table 2 and Figure 2). Moreover, similar to previously reported findings 11 , ABCA4 ( n =75), PRPH2 ( n =17), and BEST1 ( n =10) are the most common contributors in our cohort (Figure 2).…”
Section: Resultssupporting
confidence: 92%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD).
Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD.
The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC).
Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…All but two of our 25 patients showed a mutation in this codon, with thirteen cases of p.(Arg838Cys), eight with p.(Arg838His), and two with p.(Arg838Gly) mutations. The genetic findings in our cohort are in line with previous reports ( Supplementary Figure S1 ) [ 8 , 11 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 36 ].…”
Section: Discussionsupporting
confidence: 93%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD).
Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD.
The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC).
Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
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