scholarly journals Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Bernadette Donnarumma ◽  
Maria Pia Riccio ◽  
Gaetano Terrone ◽  
Melania Palma ◽  
Pietro Strisciuglio ◽  
...  
Keyword(s):  
De Novo ◽  
Social Withdrawal ◽  
Autism Spectrum ◽  
Behavioral Phenotype ◽  
First Year ◽  
Autism Symptoms ◽  
Behavioral Abnormalities ◽  
Eeg Abnormalities ◽  
Neurological Phenotype ◽  
History Of

Abstract Background White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; however, still few patients receive a comprehensive psychometric, behavioral and neurological examination. In this report, we describe the pediatric, dysmorphological, neurological, psychometric and behavioral phenotype in a new WHSUS patient due to a novel heterozygous POGZ mutation, highlighting the distinctive epileptic phenotype and the cognitive pattern. Case presentation The patient, an 8 years-old girl, presented history of hypotonia, motor and speech delay, and distinctive facial features. The diagnosis of WHSUS followed the identification of the de novo variant p.Asp828GlyfsTer36 (c.2482dupG) in the POGZ gene. The patient showed a distinctive neurological phenotype with the occurrence of both paroxysmal not-epileptic events in the first 6 months of age and EEG abnormalities without evidence of clinical seizures after the first year of age. Psychological and behavioral testing highlighted moderate intellectual and communication deficit, mild autism spectrum and visual-motor integration deficit. Conclusions This is the first described case of WHSUS with a co-existence of paroxysmal not-epileptic events and abnormal EEG without seizures in the same patient. Together with the available literature data, this observation suggests that paroxysmal not-epileptic events could be more frequent than expected and that this feature belongs to the WHSUS phenotypic spectrum. Autism is a known comorbidity of WHSUS but is still poorly investigated. Specific clinical testing could help detect also mild autistic phenotypes and better define autism prevalence in POGZ-related syndrome. Special attention should be given to symptoms such as stereotypies, social withdrawal, and hyperactivity that, when present, should be considered as possible signs of autism symptoms. The dissection of the neurological and behavioral phenotype is crucial for individualized therapies tailored to patient’s needs.

scholarly journals Electroencephalographic Abnormalites in SARS-CoV-2 Patients

2020 ◽  
Vol 11 ◽  
Author(s):  
Stephane Besnard ◽  
Clotilde Nardin ◽  
Elsa Lyon ◽  
Thomas Debroucker ◽  
Roxana Arjmand ◽  
...  
Keyword(s):  
Viral Infection ◽  
Retrospective Analysis ◽  
De Novo ◽  
Clinical Signs ◽  
Epileptic Seizures ◽  
Loss Of Consciousness ◽  
Eeg Abnormalities ◽  
History Of ◽  
Loss Of Contact ◽  
History Of Epilepsy

Viral infection with SARS-CoV-2 has a neurological tropism that may induce an encephalopathy. In this context, electroencephalographic exploration (EEG) is indicated as a diagnostic argument correlated with lumbar puncture, biology, and imaging. We performed a retrospective analysis of 42 patients explored by EEG and infected by COVID-19, according to the EEG abnormalities and clinical signs that motivated the examination. Confusion and epileptic seizures were the most common clinical indications, with 64% of the patients displaying these symptoms. The EEG was altered in 85% of the cases of confusion, in 57% of the cases of epileptic symptoms (general or focal seizure or prolonged loss of contact) and 20% of the cases of malaise or brief loss of consciousness. Nine EEG (21%) were in favor of an encephalopathy, two had de novo alterations in persistent consciousness and two had alterations in general states of confusion; one was very agitated and without history of epilepsy and combined eyelids clonia while a second one exhibited unconsciousness with left hemicorpus clonus. Two were being investigated for delayed awakening without sedation for more than 24 h. All of these patients were diagnosed COVID-19, some of them with associated mild to severe respiratory disorders. This work shows the interest of the EEG in exploring COVID-19 patients suffering from neurological or general symptoms looking for cerebral alteration.

scholarly journals KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients

2021 ◽  
Author(s):  
Lily Guo ◽  
Jiyeon Park ◽  
Edward Yi ◽  
Elaine Marchi ◽  
Yana Kibalnyk ◽  
...  
Keyword(s):  
De Novo ◽  
Autism Spectrum ◽  
Nasal Bridge ◽  
Human Phenotype ◽  
Behavioral Issues ◽  
Eeg Abnormalities ◽  
Repeat Domain ◽  
Gastrointestinal Complaints ◽  
Kbg Syndrome ◽  
Recurrent Sinus

Genetic variants in the gene Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 unpublished individuals from 22 families, all with molecularly confirmed diagnoses of KBG syndrome. Twenty-one individuals have de novo variants, three have inherited variants, and one is inherited from a mother exhibiting low-level mosaicism. Of these variants, 20 are truncating (frameshift or nonsense), and five are missense. We created a novel protocol for collection and reporting of data, including prospectively interviewing these individuals and their families throughout eight countries via videoconferencing by a single clinician. Participants' medical records, including imaging, were reviewed, and data was uploaded to the Human Disease Gene website using Human Phenotype Ontology (HPO) terms. Photos of the participants were submitted to GestaltMatcher and Face2Gene (FDNA Inc, USA) for facial analysis, and we found similar facial phenotypes among the participants. Within our cohort, common traits included short stature, macrodontia, anteverted nares, wide nasal bridge, wide nasal base, thick eyebrows, synophrys and hypertelorism. Seventy-two percent of participants had gastrointestinal complaints and 80% had hearing loss. Three participants were started on growth hormone with positive results. Behavioral issues and global developmental delays were found in most participants. Neurologic abnormalities including seizures and/or EEG abnormalities were also very common (44%), suggesting that early detection and seizure prophylaxis could be an important point of intervention. Twenty-four percent were diagnosed with attention deficit hyperactivity disorder (ADHD) and 28% were diagnosed with autism spectrum disorder (ASD). Additionally, we have identified minimally reported symptoms, including recurrent sinus infections (16%) and previously unreported migraines (20%). Based on the videoconferencing and these data, we provide a set of recommendations regarding diagnostic and treatment approaches for KBG syndrome.

Sobre Educação, Arte e Vídeoarte: rupturas, resiliência e práticas de ensino/aprendizagem na sala de aula

2020 ◽  
Author(s):  
Nélia Lúcia Fonseca
Keyword(s):  
High School ◽  
High School Students ◽  
Video Art ◽  
Theory And Practice ◽  
First Year ◽  
School Students ◽  
Forest School ◽  
Moving Images ◽  
History Of ◽  
Teaching Learning

This study first approaches the history of the observer’s gaze, that is, as observers, we are forming or constructing our way of visualizing moving images. Secondly, it reaffirms the importance and need of resistance of the teaching / learning of Art as a compulsory curricular component for high school. Finally, the third part reports an experience with video art production in a class of first year high school students, establishing an interrelationship between theory and practice, that is, we study video art content to reach the production of videos, aiming as a final result, the art videos created by the students of the Reference Center in Environmental Education Forest School Prof. Eidorfe Moreira High School. The first and second stages of this research share a theoretical part of the Master ‘s thesis, Making films on the Island: audiovisual production as an escape line in Cotijuba, periphery of Belem, completed in 2013.

STEREOTACTIC HYPO-FRACTIONAL RADIOTHERAPY OF PATIENTS WITH LUNG CANCER I-IIA CLINICAL STAGE: THE ROLE OF SUVMAX ASSESSMENT IN 18F-FDG PET/CT FOR MONITORING TREATMENT OUTCOMES

2017 ◽  
Vol 63 (4) ◽  
pp. 632-638
Author(s):  
Tatyana Borisova ◽  
Arif Allakhverdiev ◽  
Yuriy Gerasimov ◽  
Nadezhda Meshcheryakova ◽  
Mikhail Dolgushin ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Treatment Effectiveness ◽  
Clinical Stage ◽  
First Year ◽  
Pet Ct ◽  
History Of ◽  
Single Factor Analysis ◽  
Fdg Pet Ct ◽  
Second Tumor ◽  
Monitoring Treatment

Material and methods: Since 2014, 33 patients with lung cancer of clinical stage I-IIa (cT1N0M0 - 12 patients, with T2N0M0 - 21 patients) have undergone SRT. Verification of tumor process was obtained in 30 patients. A third of patients (n = 10) had a history of metachronic primary-multiple tumors and 31 patients had peripheral lung cancer. The used variants of SRT fractionation were as followed: 10Gr x 5 fractions (n = 22) and 7Gr x 8 fractions (n = 11) - BED 100Gy. Results: With a median follow-up of 21 months (range 3-37 months), 4 patients (12 %) within the first year had a loco-regional and distant progression, of which two died. During the year one patient died from complications of treatment, one - from the progression of the second tumor. One- and two-year local control was 94 %. Overall and disease-free 2-year survival was 84 % (95 % CI, 70 - 99) and 83.2 % (95 % CI, 70.5 - 99), respectively. Single-factor analysis revealed a significant effect on the overall survival of the fractionation regimen (p = 0.04). The effect of the baseline SUVmax tended to be reliable (p = 0.07). Conclusions: In order to implement the principles of risk-adaptive radiation therapy it is necessary to consider the initial SUVmax of tumor as one of potential predictive and predicative markers of treatment effectiveness.

Epistemic Crisis

2018 ◽  
Author(s):  
Yochai Benkler ◽  
Robert Faris ◽  
Hal Roberts
Keyword(s):  
Public Sphere ◽  
Intellectual History ◽  
Public Institutions ◽  
First Year ◽  
Fake News ◽  
Media And Politics ◽  
Social Divisions ◽  
Echo Chambers ◽  
History Of ◽  
Media Ecosystem

This chapter describes the contours of the epistemic crisis in media and politics that threatens the integrity of democratic processes, erodes trust in public institutions, and exacerbates social divisions. It lays out the centrality of partisanship, asymmetric polarization, and political radicalization in understanding the current maladies of political media. It investigates the main actors who used the asymmetric media ecosystem to influence the formation of beliefs and the propagation of disinformation in the American public sphere, and to manipulate political coverage during the election and the first year of the Trump presidency, , including “fake news” entrepreneurs/political clickbait fabricators; Russian hackers, bots, and sockpuppets; the Facebook algorithm and online echo chambers; and Cambridge Analytica. The chapter also provides definitions of propaganda and related concepts, as well as a brief intellectual history of the study of propaganda.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kohei Kitagawa ◽  
Kensuke Matsumura ◽  
Masayuki Baba ◽  
Momoka Kondo ◽  
Tomoya Takemoto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Behavior ◽  
Mouse Model ◽  
Mouse Models ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
De Novo Mutation ◽  
Behavioral Deficits

AbstractAutism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by core symptoms of impaired social behavior and communication. Recent studies have suggested that the oxytocin system, which regulates social behavior in mammals, is potentially involved in ASD. Mouse models of ASD provide a useful system for understanding the associations between an impaired oxytocin system and social behavior deficits. However, limited studies have shown the involvement of the oxytocin system in the behavioral phenotypes in mouse models of ASD. We have previously demonstrated that a mouse model that carries the ASD patient-derived de novo mutation in the pogo transposable element derived with zinc finger domain (POGZWT/Q1038R mice), showed ASD-like social behavioral deficits. Here, we have explored whether oxytocin (OXT) administration improves impaired social behavior in POGZWT/Q1038R mice and found that intranasal oxytocin administration effectively restored the impaired social behavior in POGZWT/Q1038R mice. We also found that the expression level of the oxytocin receptor gene (OXTR) was low in POGZWT/Q1038R mice. However, we did not detect significant changes in the number of OXT-expressing neurons between the paraventricular nucleus of POGZWT/Q1038R mice and that of WT mice. A chromatin immunoprecipitation assay revealed that POGZ binds to the promoter region of OXTR and is involved in the transcriptional regulation of OXTR. In summary, our study demonstrate that the pathogenic mutation in the POGZ, a high-confidence ASD gene, impairs the oxytocin system and social behavior in mice, providing insights into the development of oxytocin-based therapeutics for ASD.

scholarly journals A Bibliometric Insight of Genetic Factors in ASD: Emerging Trends and New Developments

2020 ◽  
Vol 11 (1) ◽  
pp. 33
Author(s):  
Kang Wang ◽  
Weicheng Duan ◽  
Yijie Duan ◽  
Yuxin Yu ◽  
Xiuyi Chen ◽  
...  
Keyword(s):  
Genetic Factors ◽  
De Novo ◽  
Rapid Development ◽  
The United States ◽  
Research Area ◽  
Scientific Output ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Emerging Trends ◽  
Genetic Abnormalities

Autism spectrum disorder (ASD) cases have increased rapidly in recent decades, which is associated with various genetic abnormalities. To provide a better understanding of the genetic factors in ASD, we assessed the global scientific output of the related studies. A total of 2944 studies published between 1997 and 2018 were included by systematic retrieval from the Web of Science (WoS) database, whose scientific landscapes were drawn and the tendencies and research frontiers were explored through bibliometric methods. The United States has been acting as a leading explorer of the field worldwide in recent years. The rapid development of high-throughput technologies and bioinformatics transferred the research method from the traditional classic method to a big data-based pipeline. As a consequence, the focused research area and tendency were also changed, as the contribution of de novo mutations in ASD has been a research hotspot in the past several years and probably will remain one into the near future, which is consistent with the current opinions of the major etiology of ASD. Therefore, more attention and financial support should be paid to the deciphering of the de novo mutations in ASD. Meanwhile, the effective cooperation of multi-research centers and scientists in different fields should be advocated in the next step of scientific research undertaken.

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