Background: Acute disseminated encephalomyelitis (ADEM) is a rare, immune-mediated inflammatory disorder of the central nervous system (CNS), typically characterized by the acute onset of multifocal demyelination. The pathogenesis of ADEM remains unclear, but it is believed to be triggered by an autoimmune response, often following viral infections or vaccinations.
Case Report: This case report describes a 3-year-old child who developed ADEM after receiving two concurrent influenza vaccines: one for seasonal influenza and one for the 2009 H1N1 pandemic.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD).
View Article and Find Full Text PDFThe incidence of urinary tract infection (UTI) caused by extensive beta-lactamase-producing Escherichia coli (ESBL-EC) is increasing, including in children. However, the available oral antibiotic treatment options for ESBL-EC are limited. Herein, we report the cases of two children diagnosed with UTI caused by ESBL-EC (ESBL-UTI) who were switched from empirical intravenous antibiotics in UTI to amoxicillin-clavulanic acid (AMPC/CVA) (14:1) after the causative organism was found to be ESBL-EC.
View Article and Find Full Text PDFObjective: To examine whether antimicrobial prophylaxis based on screening rectal cultures using selective media prevented acute bacterial prostatitis following transrectal prostate biopsy (TRPB).
Methods: In this multicenter, randomized controlled trial, we enrolled 403 patients undergoing TRPB with low risks of infectious complications. Patients were randomized into a cultured group (CG) or no cultured group (NCG).
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of maternal UBE3A. The major cause of AS is a maternal deletion in 15q11.2-q13, and the minor causes are a UBE3A mutation, uniparental disomy (UPD), and imprinting defect (ID).
View Article and Find Full Text PDFThe first steps in chitin degradation in marine bacteria involve chitinase, which produces N,N'-diacetylchitobiose (GlcNAc)2 from chitin. Moreover, in Vibrio bacteria, chitinase activity is enhanced by heterodisaccharide β-N-acetyl-d-glucosaminyl-(1,4)-d-glucosamine (GlcNAc-GlcN) produced from (GlcNAc)2 by chitin oligosaccharide deacetylase (COD). However, the role of COD in other marine bacteria, such as Shewanella, remains unexplored.
View Article and Find Full Text PDFPatients with coronavirus disease 2019 (COVID-19) pneumonia are prone to intrapulmonary thrombosis owing to excessive inflammation and platelet activation. Myelodysplastic/myeloproliferative neoplasm (MDS/MPN) with ring sideroblasts and thrombocytosis (RS-T) is a rare disease in MDS/MPN overlap entities. Patients with MDS/MPN RS-T are known to be at a high risk of thrombosis, and platelet count control with drug therapy does not necessarily reduce this risk.
View Article and Find Full Text PDFFamilial episodic pain syndrome (FEPS) is an early childhood onset disorder of severe episodic limb pain caused mainly by pathogenic variants of , , and , which encode three voltage-gated sodium channels (VGSCs) expressed as key determinants of nociceptor excitability in primary sensory neurons. There may still be many undiagnosed patients with FEPS. A better understanding of the associated pathogenesis, epidemiology, and clinical characteristics is needed to provide appropriate diagnosis and care.
View Article and Find Full Text PDFStudy Design: Prospective observational study.
Objectives: Classification of spinal-cord injury and prediction of independence in activities of daily living (ADL) based on performance evaluations such as upper-limb function have not been reported. Therefore, this study aimed to establish a severity classification and calculate cutoff values for independence in ADL using the Capabilities of Upper Extremity Test (CUE-T) for individuals with cervical spinal-cord injury (CSCI).
Background: Biallelic pathogenic variants of LARS1 cause infantile liver failure syndrome type 1 (ILFS1), which is characterized by acute hepatic failure with steatosis in infants. LARS functions as a protein associated with mTORC1 and plays a crucial role in amino acid-triggered mTORC1 activation and regulation of autophagy. A previous study demonstrated that larsb-knockout zebrafish exhibit conditions resembling ILFS.
View Article and Find Full Text PDFSMG9 is an essential component of the nonsense-mediated mRNA decay (NMD) machinery, a quality control mechanism that selectively degrades aberrant transcripts. Mutations in SMG9 are associated with heart and brain malformation syndrome (HBMS). However, the molecular mechanism underlying HBMS remains unclear.
View Article and Find Full Text PDFReportedly, patients with muscle-specific kinase (MuSK) antibody-positive myasthenia gravis (MG) account for approximately 3.0% of all patients with MG in Japan. Compared with patients who have acetylcholine receptor antibody-positive MG, those with MuSK antibody-positive MG show young-onset disease with female predominance, a low rate of ocular involvement (5.
View Article and Find Full Text PDFKey Clinical Message: This case highlights the pitfalls and provides tips for the extraction of deeply implanted lumenless leads, and encourages careful lead selection in the current era of widespread left bundle branch area pacing.
Abstract: The extraction of cardiovascular implantable electronic device leads is sometimes complicated. We describe a case with difficult but successful extraction of SelectSecure, a lumenless permanent pacemaker lead, implanted deep in the ventricular septum, highlighting its pitfalls and tips in the current era of left bundle branch area pacing.
Biochem Biophys Res Commun
June 2024
The DHCR7 enzyme converts 7-DHC into cholesterol. Mutations in DHCR7 can block cholesterol production, leading to abnormal accumulation of 7-DHC and causing Smith-Lemli-Opitz syndrome (SLOS). SLOS is an autosomal recessive disorder characterized by multiple malformations, including microcephaly, intellectual disability, behavior reminiscent of autism, sleep disturbances, and attention-deficit/hyperactivity disorder (ADHD)-like hyperactivity.
View Article and Find Full Text PDFBackground: The distal transverse arches obtained from active and passive motions of the hand and the used range of motion (u-ROM) of the hand arch in activities of daily living have rarely been reported.
Purpose: This study aimed to investigate the distal transverse arch angle of the dominant hand, the influence of age, and the u-ROM of the arch when grasping and pinching objects.
Study Design: Descriptive and correlational research design.
Communication, especially conversation, is essential for human social life. Many previous studies have examined the neuroscientific underpinnings of conversation, i.e.
View Article and Find Full Text PDFThe ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines, pupils, bladder, or heart. We identified a heterozygous missense variant of Gly148Arg (G148R) in a patient with a thoracic aortic aneurysm, dissection, and left ventricular non-compaction.
View Article and Find Full Text PDFBackground: The impact of sleep apnea (SA) on heart rate variability (HRV) in atrial fibrillation (AF) patients has not been investigated.
Methods and results: Of 94 patients who underwent AF ablation between January 2021 and September 2022, 76 patients who had a nocturnal Holter electrocardiography and polysomnography conducted simultaneously were included in the analysis. A 15-min duration of HRV, as determined by an electrocardiogram during apnea and non-apnea time, were compared between patients with and without AF recurrence at 12 months' postoperatively.