Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix.

In this report, we present a 5-year-old boy who had dysmorphic features, hypotonia, developmental and mental delay, epileptic spasms, recurrent apnea and respiratory failure that led to the diagnosis of an unreported mutation of a rare form of CDG-Ix. This mutation in the STT3B gene affects the catalytic subunit of the oligosaccharyltransferase and the recipient substrate properties, which in part have the same functions in N-glycosylation. A novel homozygous mutation in the STT3B presence of c.38C> G that encodes p.S13W (p.Ser13Trp) was detected with next generation sequencing. The CDG clinical spectrum can be unusual, ranging from dysfunction of certain organs to severe multiple system disorders. Respiratory failure has rarely been reported in these cases. Increased types and numbers of patients constitute symptom variety. The identification of new genes and genotype-phenotype relationships may expand the family of CDG. PMID: 32253875 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research

Related Links:

Conclusions: Blood gas changes such as hypoxemia and respiratory acidosis were among the factors statistically associated with the development of symptomatic seizures in patients with respiratory diseases. Additionally, hypoxemia, hypercapnia, and respiratory acidosis were correlated with mortality in patients hospitalized for respiratory system diseases who requested consultations for seizures.RESUMO Objetivo: Convuls ões são uma condição neurológica comumente vivenciada durante o período de acompanhamento após distúrbios sistêmicos ou metabólicos. O obj...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Publication date: Available online 1 June 2020Source: Epilepsy &BehaviorAuthor(s): Diane L. Teagarden, Matthew L. Morton, Nicholas J. Janocko, Olivia Groover, Hannah K. Villarreal, Latasha Evans, Daniel L. Drane, Ioannis Karakis
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Publication date: Available online 1 June 2020Source: Stem Cell ResearchAuthor(s): Alessia Arbini, James Gilmore, Mary D. King, Kathleen M. Gorman, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Why is it that all those who have become eminent in philosophy or politics or poetry or the arts are clearly of an [ill-tempered] temperament, and some of them to such an extent as to be affected by diseases caused by black bile, as is said to have happened to [Hercules] among the heroes? For he appears to have been of this nature, and that is why epileptic afflictions were called by the ancients ‘the sacred disease…’—The Complete Works of Aristotle (1984), Edited by Jonathan Barnes
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Clinical Commentary Source Type: research
Contributors : Zachary Poss ; Steven Guard ; Jeremy Jacobsen ; William OldSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensCannabidiol (CBD) is an FDA approved drug for treatment of drug-intractable forms of pediatric epilepsy. While a unified mechanism of action has yet to emerge from numerous proposed molecular targets of CBD, preclinical studies reveal a pleiotropic pharmacology. Here, we report the application of temporally-resolved multi-omic profiling and biosensor screening to dissect the molecular mechanism of CBD in human neuroblastoma cells. CDB treatment led to a rise in cyt...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Cell Death &Disease, Published online: 01 June 2020; doi:10.1038/s41419-020-2615-9Astrocytic BDNF and TrkB regulate severity and neuronal activity in mouse models of temporal lobe epilepsy
Source: Cell death and disease - Category: Internal Medicine Authors: Source Type: research
During the past years, the use of non-vitamin K oral anticoagulants (NOAC) has become more and more widespread. One of the major advantages compared to vitamin K-antagonists is the easy administration without frequent therapeutic drug monitoring. Nevertheless, interactions with other substances must be kept in mind, as NOAC efficacy may change upon co-administration of inducers or inhibitors of cytochrome P450 3A4 (CYP3A4) or P-glycoprotein (P-gp). With epilepsy being a frequent comorbidity, especially in the setting of post-ischemic epilepsy, the number of patients who require oral anticoagulation as well as antiseizure d...
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
SeizureTracker.com is one of the world ’s largest online and mobile patient-reported seizure diary databases [1]. It affords a unique view into self-reported seizures from a large and diverse group of patients [2]. For instance, patients self-report different seizure types, therefore it may be possible to learn what kinds of patterns a re seen across time with specific seizure types of interest and seizure frequency.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
We report on a 9-year-old girl with developmental and epileptic encephalopathy and movement disorder, who is heterozygous for a de novo variant in the RHOBTB2 gene that has previously been reported in two female [1] and one male [2] patients with early-onset epileptic encephalopathy, intellectual disability and movement disorder.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
ConclusionDuring the current context of COVID-19 pandemic, physicians should be aware of wide spectrum of neurological COVID-19 sign and symptoms for early diagnosis and isolation of patients. In this regard, COVID-19 has been associated with many neurological manifestations such as confusion, anosmia, and ageusia. Also, various evidences support the possible CNS roles in the COVID-19 pathophysiology. In this regard, further investigation of CNS involvement of SARS-COV-2 is suggested.
Source: Neurological Sciences - Category: Neurology Source Type: research
More News: Brain | Epilepsy | Genetics | Men | Neurology | Pediatrics | Respiratory Medicine | Turkey Health