Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants

TREX1 (three prime repair exonuclease 1) gene encodes DNA 3′ end repair exonuclease that plays an important role in DNA repair. Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutières syndrome (AGS). Here, we report an AGS case of a 6-month-old Chinese girl with novel TREX1 variants. The patient had mild rashes on the face and legs, increased muscle tensions in the limbs, and positive cervical correction reflex. Cranial magnetic resonance imaging showed that there were patches of slightly longer T1 and T2 signals in the bilateral cerebral hemisphere and brainstem white matter, mainly in the frontotemporal lobe, together with decreased white matter volume, enlarged ventricles, and widened sulcus fissure. Total exon sequencing showed that the TREX1 gene of the child had mutations of c.137_138insC and c.292_293insA, which had not been reported before. In addition, elevated type I interferons were detected by using enzyme-linked immunosorbent assay in the patient's serum. Together, our study demonstrated that novel TREX1 variants (c.137_138insC and c.292_293insA) cause AGS for the first time.

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Custom Contrast Testing: Current Trends and a New Approach

The Accounting Review ◽

10.2308/accr-52005 ◽

2018 ◽

Vol 93 (5) ◽

pp. 223-244 ◽

Cited By ~ 86

Author(s):

Ryan D. Guggenmos ◽

M. David Piercey ◽

Christopher P. Agoglia

Keyword(s):

Type I Error ◽

Type I ◽

Visual Evaluation ◽

New Approach ◽

Accounting Research ◽

Elevated Type ◽

Current Trends ◽

Comprehensive Picture ◽

Contrast Analysis ◽

First Time

ABSTRACT Contrast analysis has become prevalent in experimental accounting research since Buckless and Ravenscroft (1990) introduced it to the accounting literature over 25 years ago. Since its initial introduction, the scope of contrast testing has expanded, yet guidance as to the most appropriate methods of specifying, conducting, interpreting, and exhibiting these tests has not. We survey the use of contrast analysis in the recent literature and propose a three-part testing approach that provides a more comprehensive picture of contrast results. Our approach considers three pieces of complementary evidence: the visual evaluation of fit, traditional significance testing, and quantitative evaluation of the contrast variance residual. Our measure of the contrast variance residual, q2, is proposed for the first time in this work. After proposing our approach, we walk through six common contrast testing scenarios where current practices may fall short and our approach may guide researchers. We extend Buckless and Ravenscroft (1990) and contribute to the accounting research methods literature by documenting current contrast analysis practices that result in elevated Type I error and by proposing a potential solution to mitigate these concerns.

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Temperature and Polarization Dependence of the Optical Absorption in ZnGeP2 at two Micrometers

MRS Proceedings ◽

10.1557/proc-325-463 ◽

1993 ◽

Vol 325 ◽

Cited By ~ 2

Author(s):

M. Shah ◽

M. C. Ohmer ◽

D. W. Fischer ◽

N. C. Fernelius ◽

M. O. Manasreh ◽

...

Keyword(s):

Optical Absorption ◽

Absorption Coefficient ◽

Polarization Dependence ◽

Type I ◽

Optical Parametric Oscillators ◽

Absorption Coefficients ◽

Parametric Oscillators ◽

The Face ◽

Significant Temperature ◽

First Time

AbstractThe temperature and polarization dependence of the optical absorption in ZnGeP2 at two micrometers is reported for the first time over the temperature range from 10K to 300K. The radiation was normally incident upon the face of a cubic sample which contained the c-axis. The absorption of o-rays (E parallel to c), and erays (E perpendicular to c) was determined. It was found that the e-ray absorption coefficient was always significantly larger than the o-ray absorption coefficient and that it had a less significant temperature dependence. For example, the ratio of e-ray to o-ray absorption coefficient was approximately two at 300K and five at 77K. Correspondingly the o-ray absorption coefficients were reduced upon cooling to 77K by a factor of 2.5, while the e-ray absorption coefficients were reduced only slightly (10%-20%). These results indicate that for Type I optical parametric oscillators (OPOs) which use an oray pump beam, that performance may be improved by cooling the crystal.

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Type-I interferons in atherosclerosis

Journal of Experimental Medicine ◽

10.1084/jem.20190459 ◽

2019 ◽

Vol 217 (1) ◽

Cited By ~ 9

Author(s):

Hung-Jen Chen ◽

Sander W. Tas ◽

Menno P.J. de Winther

Keyword(s):

Foam Cell ◽

Cell Types ◽

Type I Interferons ◽

Lipid Lowering ◽

Type I ◽

Type I Ifn ◽

Recent Success ◽

Elevated Type ◽

Type I Ifns ◽

Clinical Observations

The contribution of dyslipidemia and inflammation in atherosclerosis is well established. Along with effective lipid-lowering treatments, the recent success of clinical trials with anti-inflammatory therapies and the accelerated atherosclerosis in many autoimmune diseases suggest that targeting inflammation may open new avenues for the prevention and the treatment for cardiovascular diseases (CVDs). In the past decades, studies have widened the role of type-I interferons (IFNs) in disease, from antivirus defense to autoimmune responses and immuno-metabolic syndromes. While elevated type-I IFN level in serum is associated with CVD incidence in patients with interferonopathies, experimental data have attested that type-I IFNs affect plaque-residing macrophages, potentiate foam cell and extracellular trap formation, induce endothelial dysfunction, alter the phenotypes of dendritic cells and T and B lymphocytes, and lead to exacerbated atherosclerosis outcomes. In this review, we discuss the production and the effects of type-I IFNs in different atherosclerosis-associated cell types from molecular biology studies, animal models, and clinical observations, and the potential of new therapies against type-I IFN signaling for atherosclerosis.

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White matter volume is decreased in bipolar disorder at early and late stages

Trends in Psychiatry and Psychotherapy ◽

10.1590/2237-6089-2017-0025 ◽

2018 ◽

Vol 40 (4) ◽

pp. 277-284 ◽

Cited By ~ 4

Author(s):

Juliana A. Duarte ◽

Raffael Massuda ◽

Pedro D. Goi ◽

Mireia Vianna-Sulzbach ◽

Rafael Colombo ◽

...

Keyword(s):

Bipolar Disorder ◽

White Matter ◽

Late Stage ◽

Early Stage ◽

Type I ◽

White Matter Volume ◽

Matter Volume ◽

Early Biomarkers ◽

Late Stages ◽

Mood Condition

Abstract Introduction: Bipolar disorder (BD) is a debilitating mood condition that affects approximately 1.3% of people worldwide, although some studies report up to 3.9% lifetime prevalence and 4-6% in adults when broad diagnostic criteria are applied. Objective: To compare differences in total white matter (WM), corpus callosum (CC) and total gray matter (GM) volumes in patients with type I BD at early and late stages compared with controls. Methods: Fifty-five subjects were enrolled in this study protocol. The double case-control design included 14 patients with BD at early stage; 15 patients at late stage; and their respective matched controls (14 and 12 subjects). Results: CC and total WM volumes were significantly smaller in patients with BD at early and late stages vs. controls. There was no difference for total GM volume in the early stage group, but in patients at late stage total GM volume was significantly smaller than in controls. The total GM volume reduction in patients at late stage is in agreement with the neuroprogression theory of BD. The reduction of WM volumes in total WM and in the CC at early and late stages supports the possibility that an early demyelination process could occur underlying the clinical manifestation of BD. Conclusion: Our findings may direct to the investigation of WM abnormalities in populations at high risk to develop BD, perhaps as early biomarkers before the overt syndrome.

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Oral-facial-digital syndrome, Type I: A case report

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.26.2.d34417040174j35x ◽

2003 ◽

Vol 26 (2) ◽

pp. 211-215 ◽

Cited By ~ 8

Author(s):

N. King ◽

A. Sanares

Keyword(s):

Case Report ◽

Congenital Anomalies ◽

Type I ◽

Syndrome Type ◽

Dominant Trait ◽

Southern Chinese ◽

Chinese Girl ◽

The Face ◽

Mandibular Canine

Oral-facial-digital syndrome is a group of congenital anomalies, which affects the face, oral structures and digits. There are nine subtypes. OFDS type I, is x-linked dominant trait mostly affecting females. Reports of OFDS type 1 in Asians are extremely rare. This paper shows a case of OFDS type I, in a southern Chinese girl, who in addition to most of the classic features, had fusion of the mandibular canine and lateral incisor teeth.

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Mbnl1 and Mbnl2 regulate brain structural integrity in mice

Communications Biology ◽

10.1038/s42003-021-02845-0 ◽

2021 ◽

Vol 4 (1) ◽

Author(s):

Naomi S. Sta Maria ◽

Chenyu Zhou ◽

Se Jung Lee ◽

Parvin Valiulahi ◽

Xiandu Li ◽

...

Keyword(s):

White Matter ◽

Structural Integrity ◽

Single Gene ◽

Structural Defects ◽

Type I ◽

White Matter Volume ◽

Structural Alterations ◽

Matter Volume ◽

Gray Matter Volumes ◽

The Brain

AbstractMyotonic Dystrophy Type I (DM1) patients demonstrate widespread and variable brain structural alterations whose etiology is unclear. We demonstrate that inactivation of the Muscleblind-like proteins, Mbnl1 and Mbnl2, initiates brain structural defects. 2D FSE T2w MRIs on 4-month-old Mbnl1+/−/Mbnl2−/− mice demonstrate whole-brain volume reductions, ventriculomegaly and regional gray and white matter volume reductions. Comparative MRIs on 2-month-old Mbnl1−/−, Mbnl2−/− and Mbnl1−/−/Mbnl2+/− brains show genotype-specific reductions in white and gray matter volumes. In both cohorts, white matter volume reductions predominate, with Mbnl2 loss leading to more widespread alterations than Mbnl1 loss. Hippocampal volumes are susceptible to changes in either Mbnl1 or Mbnl2 levels, where both single gene and dual depletions result in comparable volume losses. In contrast, the cortex, inter/midbrain, cerebellum and hindbrain regions show both gene and dose-specific volume decreases. Our results provide a molecular explanation for phenotype intensification in congenital DM1 and the variability in the brain structural alterations reported in DM1.

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