Late-onset drug-resistant epilepsy in pyridoxamine 5′-phosphate oxidase deficiency: a case report DOI Creative Commons
Erfan Naghavi,

Afshan Davari,

Amir Reza Bahadori

et al.

Journal of Medical Case Reports, Journal Year: 2024, Volume and Issue: 18(1)

Published: Nov. 15, 2024

Pyridoxamine 5′-phosphate oxidase deficiency is a rare inborn error of vitamin B6 metabolism that presents with drug-resistant epileptic seizures. However, the condition responsive to supplementation active metabolite pyridoxal and, in some cases, pyridoxine. In this case report, 10-year-old Iranian male Fars ethnicity came regional hospital Tehran, Iran chief complaint tic-like movement. He had history unintentional, repetitive, and stereotypic movements both arms since age 4 years. The physical examination depicted facial dimorphism. During admission, patient experienced habitual hypermotor seizures generalized tonic–clonic Ictal electroencephalography demonstrated background attenuation bursts generalized, predominantly left-sided, biphasic spike-wave complexes. Whole-genome sequencing revealed pyridoxamine as underlying cause seizures, resulting low serum level 5′-phosphate. underwent pyridoxine therapy, which ultimately resolved his At 6 months, he was seizure free. Physicians ought be aware manifestations such mimicking tic consider it differential for epilepsy.

Language: Английский

Association between sleep disorder and depression in stroke in the National Health and Nutrition Examination Surveys (NHANES) 2005 to 2014 DOI

Qinghua Wen,

Juan Li,

Simin Li

et al.

Sleep Medicine, Journal Year: 2024, Volume and Issue: 124, P. 201 - 208

Published: Sept. 19, 2024

Language: Английский

Citations

1
Traditional Chinese medicine treatment of insomnia based on microbial-gut-brain axis theory DOI
Xuejian Wang

World Journal of Clinical Cases, Journal Year: 2024, Volume and Issue: 12(36), P. 6867 - 6870

Published: Oct. 30, 2024

In recent years, insomnia has gradually become a common disease in society, which seriously affects people's quality of life. At present, with the deepening research on intestinal microbiota-gut-brain axis Western medicine, many studies suggest that regulating gastrointestinal tract can treat brain-related diseases. It is found brain-gut-bacteria plays an important role prevention and treatment primary insomnia. although clinical medicine improve symptoms patients to certain extent, there are still obvious adverse reactions, such as anxiety depression, drug addiction, etc. , so long-term oral therapy cannot be carried out. Traditional Chinese (TCM) acupuncture techniques have therapeutic effects TCM believes brain system connected through meridian, pathophysiology closely related. This paper will discuss theory feasibility for from pathological relationship between brain-gut axis, flora

Language: Английский

Citations

0
Tcf4 Deficiency Causes Recurrent Seizures in Mice DOI Creative Commons

Laura Crăciun,

Vivianna R. DeNittis,

Matthew Davis

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 1, 2024

ABSTRACT Transcription factor 4 (TCF4) is a transcription that critical for the normal development and function of central nervous system. Haploinsufficiency TCF4 causes Pitt-Hopkins Syndrome (PTHS), lifelong neurodevelopmental disorder characterized by seizures intellectual disability. To expand our currently limited understanding PTHS pathophysiology, we created mouse model with largely astrocyte-specific heterozygous knockout Tcf4 . These mice developed severe recurrent had decreased lifespans. In addition, found these astrogliosis as well increased neuronal activity in cortex, hippocampus, amygdala, hypothalamus. Furthermore, single nucleus RNA sequencing analysis revealed global changes gene expression profiles excitatory neurons, inhibitory astrocytes, oligodendrocytes compared to wild-type mice. Overall, this first report seizures, providing field tool investigate mechanisms progression develop therapeutics its associated epilepsy. HIGHLIGHTS Novel targets astrocytes develops epilepsy exhibit neuron Changes profile observed across neurons glial cells

Language: Английский

Citations

0
Late-onset drug-resistant epilepsy in pyridoxamine 5′-phosphate oxidase deficiency: a case report DOI Creative Commons
Erfan Naghavi,

Afshan Davari,

Amir Reza Bahadori

et al.

Journal of Medical Case Reports, Journal Year: 2024, Volume and Issue: 18(1)

Published: Nov. 15, 2024

Pyridoxamine 5′-phosphate oxidase deficiency is a rare inborn error of vitamin B6 metabolism that presents with drug-resistant epileptic seizures. However, the condition responsive to supplementation active metabolite pyridoxal and, in some cases, pyridoxine. In this case report, 10-year-old Iranian male Fars ethnicity came regional hospital Tehran, Iran chief complaint tic-like movement. He had history unintentional, repetitive, and stereotypic movements both arms since age 4 years. The physical examination depicted facial dimorphism. During admission, patient experienced habitual hypermotor seizures generalized tonic–clonic Ictal electroencephalography demonstrated background attenuation bursts generalized, predominantly left-sided, biphasic spike-wave complexes. Whole-genome sequencing revealed pyridoxamine as underlying cause seizures, resulting low serum level 5′-phosphate. underwent pyridoxine therapy, which ultimately resolved his At 6 months, he was seizure free. Physicians ought be aware manifestations such mimicking tic consider it differential for epilepsy.

Language: Английский

Citations

0