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result(s) for
"Cat Eye"
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Othering, Resistance and Recovery in Margaret Atwood’s Cat’s Eye
2020
This paper deals with Margaret Atwood’s novel Cat’s Eye and its depiction of alienation, victimization and recovery in the life of its protagonist, Elaine Risley. Highlighting Elaine’s sense of displacement and her feelings of fellowship with minority figures, the paper provides insights into these processes by relying on postcolonial theories of othering and cultural resistance. It first explores how Elaine is bullied, marginalized and alienated when the cultural and social differences of a new environment make her a target for allegations of abnormality. The focus then shifts to Elaine’s development and maturation as a form of recovery, as well as to the roles that art, memory and compassion play in this process. Ultimately, the paper concludes that Cat’s Eye depicts both an instance of othering and the heroine’s struggle to reverse it. However, even for Elaine, a member of the white middle class, such a reversal remains inevitably incomplete.
Journal Article
Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss
2024
Background
Cat eye syndrome (CES) is a rare congenital disease frequently caused by a partial tetrasomy of the proximal long (q) arm of chromosome 22, due to a small supernumerary marker chromosome (sSMC). CES patients show remarkable phenotypic variability. Despite the progress of molecular cytogenetic technology, the cause of phenotypic variability and the genotype–phenotype correlations remain unknown.
Methods
We analyzed clinical and genetic data of a new patient with CES together with 27 previously reported ones with a confirmed genomic gain in the PubMed database between 2012 and 2023.
Results
We reported a boy with CES carrying a 22q11.1-q11.21 duplication of 1.76 Mb tetrasomy (16888900_18644241, hg19) who presented currently rare or unreported clinical findings such as congenital aural atresia, hearing loss, PLSVC, and IVC. The results of the whole exome sequencing (WES) showed a heterozygous mutation of the
GJB2
gene (NM_004004.6: exon2: c.109G > A). In addition, the results of our literature review showed that the presence of a classical sSMC was the most frequent cytogenetic abnormality in CES (82%). 63% of cases were in a homogenous state and 37% of cases were in a mosaic state. 72% of cases had a 1–2 Mb duplication. In the majority of CES patients the breakpoints in chromosome 22 are localized to a 50 kb region (18610000_18660000 bp). The CES critical region (CESCR) may be further delimited to a 0.3 Mb region (17799398_18111588 bp). Within this region
CECR2
,
SLC25A18
,
ATP6V1E1
, and
BCL2L13
are strong candidate genes for causing the main CES phenotype. The ear anomalies are the most frequent features in CES patients (89%) and hearing loss was present in 36% of CES patients.
Conclusions
The phenotypic features in CES are highly variable. Our findings expand the symptom spectrum of CES and lay the foundation for better delineating the clinical phenotype, molecular cytogenetic features associated with CES and genotype–phenotype correlations. We recommend performing WES to rule out the involvement of other genetic factors in the patient’s phenotype. In addition, our findings also highlight the need for genetic counseling and recurrence risk assessment.
Journal Article
Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
by
Zang, Weiwei
,
Wang, Yanan
,
Chai, Yuqiong
in
22q11.1q11.21 duplication
,
Acuity
,
Biomedical and Life Sciences
2023
Purpose
This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family.
Case presentation
The proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncorrected distance visual acuity of her left eye was 0.7 LogMAR. Peripheral blood chromosome karyotyping reveal a karyotype of 47, XX, + mar. Subsequent analysis of chromosome copy number variation unveiled a 1.5 Mb duplication in the 22q11.1q11.21 region of the proband. The proband's mother,aged 49, displayed small eyes, wide-set eyes, downward slanting eyelids, and congenital heart disease. Chromosome copy number variation analysis also showed a 1.55 Mb duplication in the 22q11.1q11.21 region of chromosome 22 in the proband's mother. Ultimately, both members of this family were diagnosed with cat eye syndrome.
Conclusion
Cat eye syndrome is a rare genetic disorder that greatly affects patients' lives and requires personalized treatment. This study provides new evidence for a better understanding of the diagnosis of cat eye syndrome and emphasizes the importance of genetic counseling and supervision.
Journal Article
Mortality in Patients with 22q11.2 Rearrangements
by
Parra, Alejandro
,
Silván, Cristina
,
Lapunzina, Pablo
in
Abnormalities, Multiple
,
Adolescent
,
Adult
2024
The 22q11.2 region is highly susceptible to genomic rearrangements leading to multiple genomic disorders, including 22q11.2 microdeletion syndrome (22q11.2 DS) (MIM# 188400), 22q11.2 microduplication syndrome (MIM# 608363), supernumerary der(22)t(11;22) syndrome (also known as Emanuel Syndrome; MIM# 609029), and Cat Eye Syndrome (MIM# 115470). In this study, we present data on causes of mortality, average age of death, and the existing associated risk factors in patients with 22q11.2 rearrangements. Our cohort included 223 patients (120 males and 103 females) with confirmed diagnoses of 22q11.2 rearrangements diagnosed through molecular techniques (FISH, MLPA, and CMA). Relatives from patients who have been molecularly confirmed with 22q11.2 rearrangements have also been added to the study, regardless of the presence or absence of symptoms. Of these 223 individuals, 21 (9.4%) died. Deceased patients’ rearrangements include 19 microdeletions, 1 microduplication, and 1 patient with a marker chromosome. The median age of death was 3 months and 18 days (ranging from 3 days to 34 years). There were 17 patients who died at pediatric age (80.95%), 3 died at adult age (14.28%), and for 1 of whom, the age of death is unknown (4.76%). Eighteen patients were White Mediterranean (European non-Finnish) (85.71%) whereas three were Amerindian (South American) (14.28%). Mortality from cardiac causes accounted for 71.42%. The second most frequent cause of death was sepsis in two patients (9.52%). One patient died from respiratory failure (4.76%) and one from renal failure (4.76%). Information regarding the cause of death was not available in two patients (9.52%). Most patients who died were diagnosed within the first week of life, the majority on the first day. This study adds additional information on mortality in one of the largest cohorts of patients with 22q11.2 rearrangements in more than 30 years of follow-up.
Journal Article
Neurons with Cat’s Eyes: A Synthetic Strain of α-Synuclein Fibrils Seeding Neuronal Intranuclear Inclusions
by
Kashyrina, Marianna
,
Bousset, Luc
,
Buffeteau, Thierry
in
alpha-Synuclein - metabolism
,
Amyloid
,
Animals
2022
The distinct neuropathological features of the different α-Synucleinopathies, as well as the diversity of the α-Synuclein (α-Syn) intracellular inclusion bodies observed in post mortem brain sections, are thought to reflect the strain diversity characterizing invasive α-Syn amyloids. However, this “one strain, one disease” view is still hypothetical, and to date, a possible disease-specific contribution of non-amyloid factors has not been ruled out. In Multiple System Atrophy (MSA), the buildup of α-Syn inclusions in oligodendrocytes seems to result from the terminal storage of α-Syn amyloid aggregates first pre-assembled in neurons. This assembly occurs at the level of neuronal cytoplasmic inclusions, and even earlier, within neuronal intranuclear inclusions (NIIs). Intriguingly, α-Syn NIIs are never observed in α-Synucleinopathies other than MSA, suggesting that these inclusions originate (i) from the unique molecular properties of the α-Syn fibril strains encountered in this disease, or alternatively, (ii) from other factors specifically dysregulated in MSA and driving the intranuclear fibrillization of α-Syn. We report the isolation and structural characterization of a synthetic human α-Syn fibril strain uniquely capable of seeding α-Syn fibrillization inside the nuclear compartment. In primary mouse cortical neurons, this strain provokes the buildup of NIIs with a remarkable morphology reminiscent of cat’s eye marbles (see video abstract). These α-Syn inclusions form giant patterns made of one, two, or three lentiform beams that span the whole intranuclear volume, pushing apart the chromatin. The input fibrils are no longer detectable inside the NIIs, where they become dominated by the aggregation of endogenous α-Syn. In addition to its phosphorylation at S129, α-Syn forming the NIIs acquires an epitope antibody reactivity profile that indicates its organization into fibrils, and is associated with the classical markers of α-Syn pathology p62 and ubiquitin. NIIs are also observed in vivo after intracerebral injection of the fibril strain in mice. Our data thus show that the ability to seed NIIs is a strain property that is integrally encoded in the fibril supramolecular architecture. Upstream alterations of cellular mechanisms are not required. In contrast to the lentiform TDP-43 NIIs, which are observed in certain frontotemporal dementias and which are conditional upon GRN or VCP mutations, our data support the hypothesis that the presence of α-Syn NIIs in MSA is instead purely amyloid-strain-dependent.
Journal Article
A Retroreflection Reduction Technique Based on the Wavefront Coded Imaging System
2021
A novel anti-cat-eye effect imaging technique based on wavefront coding is proposed as a solution to the problem of previous anti-cat-eye effect imaging techniques where imaging quality was sacrificed to reduce the retroreflection from the photoelectric imaging equipment. With the application of the Fresnel–Kirchhoff diffraction theory, and the definition of generalized pupil function combining both phase modulation and defocus factors, the cat-eye echo formation of the wavefront coded imaging system is theoretically modeled. Based on the physical model, the diffracted spot profile distribution and the light intensity distribution on the observation plane are further simulated with the changes in the defocus parameter and the phase modulation coefficient. A verification test on the cat-eye laser echo power of the wavefront coded imaging system and that of the conventional imaging system at a 20 m distance are conducted, respectively. Simulations and experiment results show that compared with conventional imaging systems, the wavefront coding imaging system can reduce the retroreflection echo by two orders of magnitude while maintaining better imaging quality through defocusing.
Journal Article
Positively selected genes in the hoary bat ( Lasiurus cinereus ) lineage: prominence of thymus expression, immune and metabolic function, and regions of ancient synteny
2022
Bats of the genus
occur throughout the Americas and have diversified into at least 20 species among three subgenera. The hoary bat (
) is highly migratory and ranges farther across North America than any other wild mammal. Despite the ecological importance of this species as a major insect predator, and the particular susceptibility of lasiurine bats to wind turbine strikes, our understanding of hoary bat ecology, physiology, and behavior remains poor.
To better understand adaptive evolution in this lineage, we used whole-genome sequencing to identify protein-coding sequence and explore signatures of positive selection. Gene models were predicted with Maker and compared to seven well-annotated and phylogenetically representative species. Evolutionary rate analysis was performed with PAML.
Of 9,447 single-copy orthologous groups that met evaluation criteria, 150 genes had a significant excess of nonsynonymous substitutions along the
branch (
< 0.001 after manual review of alignments). Selected genes as a group had biased expression, most strongly in thymus tissue. We identified 23 selected genes with reported immune functions as well as a divergent paralog of
within suborder Yangochiroptera. Seventeen genes had roles in lipid and glucose metabolic pathways, partially overlapping with 15 mitochondrion-associated genes; these adaptations may reflect the metabolic challenges of hibernation, long-distance migration, and seasonal variation in prey abundance. The genomic distribution of positively selected genes differed significantly from background expectation by discrete Kolmogorov-Smirnov test (
< 0.001). Remarkably, the top three physical clusters all coincided with islands of conserved synteny predating Mammalia, the largest of which shares synteny with the human cat-eye critical region (CECR) on 22q11. This observation coupled with the expansion of a novel
-like gene family may indicate evolutionary innovation during pharyngeal arch development: both the CECR and
cause dosage-dependent congenital abnormalities in thymus, heart, and head, and craniodysmorphy is associated with human orthologs of other positively selected genes as well.
Journal Article
Studies on retro-reflection for optical target detection
2024
One of the emerging techniques nowadays is retro-reflection/cat’s eye effect-based optical detection and location. The prior detection (before firing) of hidden snipers and various other surveillance devices has been a great challenge. Most of the military weapon systems have common optical or electro-optical sights. One of the techniques can be detection of the retro-reflection from the aiming optical or electro-optical targets. In future the retro-reflection-based communication with UAVs is also into consideration. For development of retro-reflection-based devices, the understanding of the behaviour of the retro-reflection from various targets is crucial. In this paper, studies have been carried out through simulation and experimentation to study the behaviour of retro-reflection for various possible targets.
Journal Article
Between the urge to know and the need to deny: trauma and embodied memories in Margaret Atwood’s Cat’s Eye (1988)
by
Lecheheb, Ikram
in
Atwood, Margaret (1939- )
,
cat’s eye
,
corporeality of trauma and healing process
2021
The study intends to explore and analyze the role of corporeality in expressing earlier repressed traumatic events as manifested in Margaret Atwood’s
(1988). It shows that the protagonist, Elaine Risley, is imprisoned within the prison of her traumatic past memories that still live involuntarily in her present, shaping her language and behavior. It equally reveals that the connection between the protagonist’s body and her conscious self is damaged due to overwhelming effects of her trauma; triggering her body to unconsciously project those traumatic memories. The study specifically examines how Atwood’s protagonist’s trauma returns through the cracks of her consciousness in a form of auditory and verbal hallucinations and dissociation from herself. In order to probe the connection between soma and trauma in Atwood’s novel, the study leans on a distillation of psychological theorizations; particularly Sigmund Freud’s emphasis on the somatic expression of trauma. Through a textual analysis of Atwood’s novel, the study highlights that trauma is responsible for the protagonist’s anxiety, fear and loss of language, seeking to examine how Atwood’s protagonist strives to heal from her earlier traumatic memories through different mediums including art.
Journal Article
Theoretical Analysis on Retro-Reflected Wave Power Based on “Cat-Eye” Effect in Defocusing Condition
2014
Retro-reflected wave power of cat-eye target is an important factor for active laser detection system, which can evaluate high or low cat-eye effect of photoelectrical device. Theoretical and experimental results show that retro-reflected wave power will rapidly decline with defocusing distance increases and the decline more notable in negative defocusing condition.
Journal Article