scholarly journals Language and cognitive impairment associated to a novel p.Cys63Arg change in the MED13L gene

2017 ◽  
Author(s):  
Ma Salud Jiménez-Romero ◽  
Pilar Carrasco-Salas ◽  
Antonio Benítez-Burraco
Keyword(s):  
Language Impairment ◽  
Complex Phenotype ◽  
Behavioral Disturbances ◽  
Case Presentation ◽  
Cognitive Delay ◽  
Transcriptional Regulatory ◽  
Regulatory Complex ◽  
A Subunit ◽  
Synonymous Change ◽  
The Brain

ABSTRACTMutations of the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported, mostly in patients with CNV. Case presentation. We report on a child who presents with a non-synonymous change p.Cys63Arg in MED13L (Chr12:116675396A>G, GRCh37) and who exhibits profound language impairment in the expressive domain, cognitive delay, behavioral disturbances, and some autistic features. Conclusions. Because of the brain areas in which MED13L is expressed and because of the functional links between MED13L and the products of some candidate genes for language disorders, the proband’s linguistic phenotype may result from changes in a functional network important for language development.

scholarly journals Variable penetrance of the 15q11.2 BP1–BP2 microduplication in a family with cognitive and language impairment

2016 ◽  
Author(s):  
Antonio Benítez-Burraco ◽  
Montserrat Barcos-Martínez ◽  
Isabel Espejo-Portero ◽  
Ma Salud Jiménez-Romero
Keyword(s):  
Language Processing ◽  
Language Impairment ◽  
Monozygotic Twins ◽  
Behavioral Impairment ◽  
Behavioral Disturbances ◽  
Case Presentation ◽  
Cognitive Delay ◽  
And Function ◽  
Male Twin ◽  
Variable Penetrance

ABSTRACTThe 15q11.2 BP1–BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. Case presentation. We report on a family (the father and three male twin siblings) who presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: whereas the father and the fraternal twin are normal carriers, the monozygotic twins exhibit severe language and cognitive delay and behavioral disturbances. The genes located within the duplicated region are involved in brain development and function, and some of them are related to language processing. Conclusions. The probands’ phenotype may result from changes in the expression level of some of these genes important for cognitive development.

scholarly journals The pathophysiology of “happy” hypoglycemia

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Thomas Loeb ◽  
Anna Ozguler ◽  
Geraldine Baer ◽  
Michel Baer
Keyword(s):  
Critical Care ◽  
Hemorrhagic Shock ◽  
Lactate Production ◽  
Severe Hypoglycemia ◽  
Altered Mental Status ◽  
Case Presentation ◽  
Energy Substrate ◽  
Tissue Hypoperfusion ◽  
The Brain ◽  
Critical Care Patients

Abstract Background Hypoglycemia usually includes various neurological symptoms, which are the consequence of neuroglycopenia. When it is severe, it is associated with altered mental status, even coma. Case presentation We report the case of a patient with severe hypoglycemia, completely asymptomatic, due to the increase of lactate production in response to tissue hypoperfusion following a hemorrhagic shock. This illustrates that lactate can substitute glucose as an energy substrate for the brain. It is also a reminder that this metabolite, despite its bad reputation maintained by its role as a marker of severity in critical care patients, has a fundamental role in our metabolism. Conclusions Following the example of the “happy hypoxemia” recently reported in the literature describing asymptomatic hypoxemia in COVID-19 patients, we describe a case of “happy hypoglycemia.”

Lateral Medullary Infarction with Contralateral Segmental Dysesthesia and Ipsilateral Headache: A Case Report

2021 ◽  
Vol 17 ◽  
Author(s):  
Renjie Wang ◽  
Yankun Shao ◽  
Lei Xu
Keyword(s):  
Medulla Oblongata ◽  
Clinical Manifestations ◽  
Lateral Medullary Infarction ◽  
Case Presentation ◽  
Specific Sign ◽  
Temperature Sense ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
The Brain ◽  
Medullary Infarction

Introduction: The medulla oblongata is the lowest segment of the brain stem, located adjacent to the spinal cord, with a complex anatomical structure. Thus, a small injury to the medulla oblongata can show complex clinical manifestations. Case Presentation: A patient experienced dysesthesia, which manifested as numbness in her right lower limb and decreased temperature sense, and dizziness 20 days before admission. The numbness worsened 1 week before admission, reaching the right thoracic (T) 12 dermatomes. Her thermoception below the T12 dermatomes decreased, and the degree of dizziness increased, accompanied by nausea and vomiting. Magnetic resonance imaging (MRI) of the neck, chest, and abdomen performed at a local hospital showed no abnormalities. MRI of the brain was performed after admission. One week after admission, she experienced a severe headache in the upper left periorbital area. The numbness extended to T4, and thermoception decreased below T4. Diagnosis: Lateral medullary infarction. Interventions: Anti-platelet aggregation and mitochondrial nutritional therapies were performed along with treatments for improving circulation and establishing collateral circulation. Outcomes: The intensity of limb numbness decreased, and the symptoms of headache and dizziness resolved. Conclusion: Lesions leading to segmental sensory disorders can occur in the medulla oblongata. Ipsilateral headaches with contralateral segmental paresthesia can be a specific sign of lateral medullary infarction.

scholarly journals Identification of a mouse protein whose homolog in Saccharomyces cerevisiae is a component of the CCR4 transcriptional regulatory complex.

1995 ◽  
Vol 15 (7) ◽  
pp. 3487-3495 ◽  
Author(s):  
M P Draper ◽  
C Salvadore ◽  
C L Denis
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Yeast Cells ◽  
Significant Similarity ◽  
Eukaryotic Transcription ◽  
C Elegans ◽  
Mouse Protein ◽  
Transcriptional Regulatory ◽  
Evolutionarily Conserved ◽  
Regulatory Complex

The CCR4 protein from Saccharomyces cerevisiae is a component of a multisubunit complex that is required for the regulation of a number of genes in yeast cells. We report here the identification of a mouse protein (mCAF1 [mouse CCR4-associated factor 1]) which is capable of interacting with and binding to the yeast CCR4 protein. The mCAF1 protein was shown to have significant similarity to proteins from humans, Caenorhabditis elegans, Arabidopsis thaliana, and S. cerevisiae. The yeast gene (yCAF1) had been previously cloned as the POP2 gene, which is required for expression of several genes. Both yCAF1 (POP2) and the C. elegans homolog of CAF1 were shown to genetically interact with CCR4 in vivo, and yCAF1 (POP2) physically associated with CCR4. Disruption of the CAF1 (POP2) gene in yeast cells gave phenotypes and defects in transcription similar to those observed with disruptions of CCR4, including the ability to suppress spt10-enhanced ADH2 expression. In addition, yCAF1 (POP2) when fused to LexA was capable of activating transcription. mCAF1 could also activate transcription when fused to LexA and could functionally substitute for yCAF1 in allowing ADH2 expression in an spt10 mutant background. These data imply that CAF1 is a component of the CCR4 protein complex and that this complex has retained evolutionarily conserved functions important to eukaryotic transcription.

scholarly journals Interaction ofBTG1and p53-regulatedBTG2Gene Products with mCaf1, the Murine Homolog of a Component of the Yeast CCR4 Transcriptional Regulatory Complex

1998 ◽  
Vol 273 (35) ◽  
pp. 22563-22569 ◽  
Author(s):  
Jean-Pierre Rouault ◽  
Déborah Prévôt ◽  
Cyril Berthet ◽  
Anne-Marie Birot ◽  
Marc Billaud ◽  
...  
Keyword(s):  
Transcriptional Regulatory ◽  
Murine Homolog ◽  
Regulatory Complex

scholarly journals Catatonia Associated With Late Paraphrenia Successfully Treated With Lithium: A Case Report

2020 ◽  
Author(s):  
Hiroko Sugawara ◽  
Junpei Takamatsu ◽  
Mamoru Hashimoto ◽  
Manabu Ikeda
Keyword(s):  
Case Report ◽  
Mood Disorders ◽  
Electroconvulsive Therapy ◽  
Late Onset ◽  
Treatment Strategies ◽  
Psychotic Symptoms ◽  
Case Presentation ◽  
Limited Efficacy ◽  
Cumulative Evidence ◽  
The Brain

Abstract Background: Catatonia is a psychomotor syndrome that presents various symptoms ranging from stupor to agitation, with prominent disturbances of volition. Its pathogenesis is poorly understood. Benzodiazepines and electroconvulsive therapy (ECT) are safe and effective standard treatments for catatonia; however, alternative treatment strategies have not been established in cases where these treatments are either ineffective or unavailable. Here, we report a case of catatonia associated with late paraphrenia classified as very-late-onset schizophrenia-like psychosis, which was successfully treated with lithium. Case presentation: A 66-year-old single man with hearing impairment developed hallucination and delusions and presented with catatonic stupor after a fall. He initially responded to benzodiazepine therapy; however, his psychotic symptoms became clinically evident and benzodiazepine provided limited efficacy. Blonanserin was ineffective, and ECT was unavailable. His catatonic and psychotic symptoms were finally relieved by lithium monotherapy.Conclusions: Catatonic symptoms are common in patients with mood disorders, suggesting that lithium may be effective in these cases. Moreover, lithium may be effective for both catatonic and psychotic symptoms, as it normalizes imbalances of excitatory and inhibitory systems in the brain, which underlies major psychosis. Cumulative evidence from further cases is needed to validate our findings.

Survival of multiple nail gun injuries to the head, lung, and heart: A case report

2020 ◽  
Author(s):  
Suo-Hsien Wang ◽  
Mao-Yu Chen ◽  
Tzu-Yen Huang ◽  
Che-Chia Chang ◽  
Chih-Ying Chien
Keyword(s):  
Emergency Department ◽  
Case Report ◽  
Suicide Attempt ◽  
Surgical Planning ◽  
Surgical Intervention ◽  
Treatment Strategies ◽  
Emergency Physicians ◽  
Significant Morbidity ◽  
Case Presentation ◽  
The Brain

Abstract Background: Most nail gun injuries occur at the extremities due to working accidents. Injuries to the brain or thorax are relatively rare, and cases with both injuries are even rarer. Initial evaluation, resuscitation and surgical planning can be challenging. Case presentation: Here, we present a case with nail gun injuries to the brain, lung, and heart by suicide attempt. The patient presented to the emergency department under shock. After resuscitation and surgical intervention, he was discharged without significant morbidity. Conclusions: Multiple nail gun injuries, especially those to vital organs such as the brain, lung, and heart, can be challenging to emergency physicians and surgeons. Imaging tools, treatment strategies, and possible complications are discussed in this article to provide optimized outcomes in such situations.

scholarly journals Adenovirus E1A specifically blocks SWI/SNF-dependent transcriptional activation.

1996 ◽  
Vol 16 (10) ◽  
pp. 5737-5743 ◽  
Author(s):  
M E Miller ◽  
B R Cairns ◽  
R S Levinson ◽  
K R Yamamoto ◽  
D A Engel ◽  
...  
Keyword(s):  
Transcriptional Activation ◽  
Cellular Transformation ◽  
Transcriptional Coactivator ◽  
Gene Encoding ◽  
Adenovirus E1a ◽  
Transcriptional Regulatory ◽  
Genes Encoding ◽  
Regulatory Complex ◽  
Activation Pathways ◽  
Coactivator P300

Expression of the adenovirus E1A243 oncoprotein in Saccharomyces cerevisiae produces a slow-growth phenotype with accumulation of cells in the G1 phase of the cell cycle. This effect is due to the N-terminal and CR1 domains of E1A243, which in rodent cells are involved in triggering cellular transformation and also in binding to the cellular transcriptional coactivator p300. A genetic screen was undertaken to identify genes required for the function of E1A243 in S. cerevisiae. This screen identified SNF12, a gene encoding the 73-kDa subunit of the SWI/SNF transcriptional regulatory complex. Mutation of genes encoding known members of the SWI/SNF complex also led to loss of E1A function, suggesting that the SWI/SNF complex is a target of E1A243. Moreover, expression of E1A in wild-type cells specifically blocked transcriptional activation of the INO1 and SUC2 genes, whose activation pathways are distinct but have a common requirement for the SWI/SNF complex. These data demonstrate a specific functional interaction between E1A and the SWI/SNF complex and suggest that a similar interaction takes place in rodent and human cells.

scholarly journals NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

eLife ◽  
2015 ◽  
Vol 4 ◽  
Author(s):  
Vincenzo A Gennarino ◽  
Callison E Alcott ◽  
Chun-An Chen ◽  
Arindam Chaudhury ◽  
Madelyn A Gillentine ◽  
...  
Keyword(s):  
Brain Function ◽  
Copy Number ◽  
Alternative Polyadenylation ◽  
Copy Number Variations ◽  
Protein Abundance ◽  
Mrna Isoforms ◽  
Neuropsychiatric Disease ◽  
Mecp2 Protein ◽  
A Subunit ◽  
The Brain

The brain is sensitive to the dose of MeCP2 such that small fluctuations in protein quantity lead to neuropsychiatric disease. Despite the importance of MeCP2 levels to brain function, little is known about its regulation. In this study, we report eleven individuals with neuropsychiatric disease and copy-number variations spanning NUDT21, which encodes a subunit of pre-mRNA cleavage factor Im. Investigations of MECP2 mRNA and protein abundance in patient-derived lymphoblastoid cells from one NUDT21 deletion and three duplication cases show that NUDT21 regulates MeCP2 protein quantity. Elevated NUDT21 increases usage of the distal polyadenylation site in the MECP2 3′ UTR, resulting in an enrichment of inefficiently translated long mRNA isoforms. Furthermore, normalization of NUDT21 via siRNA-mediated knockdown in duplication patient lymphoblasts restores MeCP2 to normal levels. Ultimately, we identify NUDT21 as a novel candidate for intellectual disability and neuropsychiatric disease, and elucidate a mechanism of pathogenesis by MeCP2 dysregulation via altered alternative polyadenylation.

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