A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.

The MELAS/Leigh overlap syndrome manifests with a blend of clinical and radiographic traits from both MELAS and LS. However, the association of MELAS/Leigh overlap syndrome with MT-CO1 gene variants has not been previously reported. In this study, we report a patient diagnosed with MELAS/Leigh overlap syndrome harboring the m.

Clinical Presentation, Management, and Diagnostic Performance of 2021 Criteria for Paraneoplastic Neurologic Syndromes in Childhood.

Background And Objectives: Paraneoplastic neurologic syndromes (PNSs) are remote neurologic immune-related effects of tumors. The clinical characteristics of pediatric PNSs remain unclear. We retrospectively examined the clinical characteristics of cases of pediatric PNSs and assessed the performance of the 2021 diagnostic criteria in children.

Impacts of regional socioeconomic statuses and global events on solid waste research reflected in six waste-focused journals.

The research pertaining to solid waste is undergoing extensive advancement, thereby necessitating a consolidation and analysis of its research trajectories. The existing biblio-studies on solid waste research (SWR) lack thorough analyses of the factors influencing its trends. This article presents an innovative categorization framework that categorizes publications from six SWR journals utilizing Source Latent Dirichlet Allocation.

Diagnostic value of F-fluorodeoxyglucose positron emission tomography/computed tomography imaging in pediatric opsoclonus myoclonus ataxia syndrome presenting with neuroblastoma.

Background: Early precision diagnosis and effective treatment of opsoclonus myoclonus ataxia syndrome (OMAS) patients presenting with neuroblastoma can prevent serious neurological outcomes.

Objective: To assess the diagnostic value of F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) imaging in pediatric OMAS with neuroblastoma.

Materials And Methods: A retrospective evaluation of 45 patients diagnosed with OMAS who underwent F-FDG PET/CT was performed.

An early diagnosed cerebral small vessel disease in a 12-year-old girl.

Cerebral small vessel disease (CSVD) is a leading cause of ischaemic and haemorrhagic stroke and a major contributor to dementia. It occurs mostly in adult patients, rarely in children. COL4A1 is a candidate gene in monogenic CSVD with a wide clinical and neuroimaing spectrum.

Hydrolytic degradation and biodegradation of polylactic acid electrospun fibers.

Increased use of bioplastics, such as polylactic acid (PLA), helps in reducing greenhouse gas emissions, decreases energy consumption and lowers pollution, but its degradation efficiency has much room for improvement. The degradation rate of electrospun PLA fibers of varying diameters ranging from 0.15 to 1.

Adrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome: a real-world study.

Background: Infantile epileptic spasms syndrome (IESS) is a serious disease in infants, and it usually evolves to other epilepsy types or syndromes, especially refractory or super-refractory focal epilepsies. Although adrenocorticotropic hormone (ACTH) is one of the first-line and effective treatment plans for IESS, it has serious side effects and is not sufficiently effective.

Methods: A retrospective study of the clinical outcomes of ACTH combined with magnesium sulfate (MgSO) therapy for IESS in two hospital centers was conducted.

Unveiling the Microfiber Release Footprint: Guiding Control Strategies in the Textile Production Industry.

Microplastic fibers from textiles have been known to significantly contribute to marine microplastic pollution. However, little is known about the microfiber formation and discharge during textile production. In this study, we have quantified microfiber emissions from one large and representative textile factory during different stages, spanning seven different materials, including cotton, polyester, and blended fabrics, to further guide control strategies.

Panaxadiol targeting IL2 inducible T cell kinase promotes T cell immunity in radiotherapy.

Ginseng, as a traditional Chinese medicine, has a good protective effect against radiotherapy, but its mechanism in radiotherapy still needs to be further explored. The active ingredients of Ginseng were analyzed according to pharmacodynamics in the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP) database, and the target genes of active ingredients were screened by UniProt, PubChem and Swiss target prediction database. The differentially expressed genes of GSE6871 and GSE20162 were analyzed from the GEO database.

Immunogenic cell death-related classifications in breast cancer identify precise immunotherapy biomarkers and enable prognostic stratification.

Immunogenic cell death (ICD) remodels the tumor immune microenvironment, plays an inherent role in tumor cell apoptosis, and promotes durable protective antitumor immunity. Currently, appropriate biomarker-based ICD immunotherapy for breast cancer (BC) is under active exploration. To determine the potential link between ICD genes and the clinical risk of BC, TCGA-BC was used as the training set and GSE58812 was used as the validation set.

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.

Aim: To explore the clinical and genetic spectrum of hereditary spastic paraplegia (HSP) in Chinese children.

Method: This retrospective study was conducted between January 2014 and October 2021 in children clinically diagnosed with either pure HSP (pHSP) or complex HSP (cHSP).

Results: We investigated 45 children (32 males, 13 females; mean age [SD] at symptom onset 4 years [7 months]).

Clinical Effect of the Guizhi Shaoyao Zhimu Decoction in the Treatment of Hyperuricemia.

Traditional Chinese Medicine (TCM) is a medical system with a distinctive theoretical framework and extensive experience in identification and treatment acquired by the Chinese people in long-term medical practice and life practice. It is a complete, integrated, and complex knowledge system in epistemology. This study is aimed at exploring the clinical effectiveness of TCM called the Guizhi Shaoyao Zhimu Decoction in the treatment of hyperuricemia.

A 5-year-old child presenting with tumor-like primary angiitis of the central nervous system.

Introduction: Primary angiitis of the central nervous system (PACNS) is a vasculitis confined to the CNS. A small proportion of the lesions may present as a tumor-like mass, which is rarely seen in children.

Case Presentation: A 5-year-old girl was admitted to our hospital because of an intermittent headache.

[Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].

Objective: To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease.

Methods: The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics.

Results: The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability.

Chinese patients with p.Arg756 mutations of : Clinical manifestations, treatment, and follow-up.

Importance: The phenotypes of gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever-induced paroxysmal weakness and encephalopathy (FIPWE) are considered non-classical phenotypes caused by p.Arg756 mutations of .

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

Background: The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations.

Methods: We retrospectively analyzed the clinical information and genetic testing results of a Rahman syndrome family in an outpatient clinic in August 2020 and summarized the clinical characteristics of the HIST1H1E gene mutations in conjunction with peer-reviewed reports.

Results: A 4-year-old boy was diagnosed with severe developmental delay and with specific features (large head, full cheeks, high hairline, low-set ear, sparse eyebrows, and short neck) similar to his mother (mild intellectual disability, high hairline, reduced hair, ptosis, sagging skin, and hyperkeratosis) and premature aging.

Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study.

Mitochondrial DNA (mtDNA) associated mitochondrial diseases hold a crucial position but comprehensive and systematic studies are relatively rare. Among the 262 patients of four children's hospitals in China, 96%-point mutations (30 alleles in 11 genes encoding tRNA, rRNA, Complex I and V) and 4%-deletions (seven of ten had not been reported before) were identified as the cause of 14 phenotypes. MILS presented the highest genetic heterogeneity, while the m.

Polylactic acid face masks: Are these the sustainable solutions in times of COVID-19 pandemic?

The global massive consumption of disposable face masks driven by the ongoing COVID-19 pandemic has emerged as a blooming disaster to both the land and marine environment that might last for generations. Growing public concerns have been raised over the management and control of this new form of plastic pollution, and one of the proposed sustainable solution is to use renewable and/or biodegradable resources to develop mask materials in order to minimize their environmental impacts. As a representative biodegradable polymer, polylactic acid (PLA) has been proposed as a promising candidate to produce non-woven face masks instead of those fossil-based polymers.

Age-dependent characteristics and prognostic factors of pediatric anti-N-methyl-d-aspartate receptor encephalitis in a Chinese single-center study.

Objective: To describe the clinical features and prognosis of pediatric anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis from a single center in northern China.

Methods: The clinical and laboratory characteristics of hospitalized patients with anti-NMDAR encephalitis, stratified by age, were retrospectively studied. Risk factors including relapse and long-term (follow-up ≥1 year) outcomes were analyzed.

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.

Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes. A nuclear gene HPDL (4-hydroxyphenylpyruvate dioxygenase-like), which encodes an intermembrane mitochondrial protein, has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement phenotypes. Here, we report six Chinese patients with bi-allelic HPDL pathogenic variants from four unrelated families showing neuropathic symptoms of variable severity, including developmental delay/intellectual disability, spasm, and hypertonia.

Case Report: A Variant Non-ketotic Hyperglycinemia With Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Variant non-ketotic hyperglycinaemia (NKH) is a rare disorder characterized by variable clinical, biochemical, and imaging features. The variant form of NKH is rare and characterized by variable clinical, biochemical and imaging features. Herein, we report a girl with variant NKH with two mutations in glutaredoxin 5 (), which has been described in only three patients.

Case Report: Autoimmune Encephalitis Associated With Anti-glutamic Acid Decarboxylase Antibodies: A Pediatric Case Series.

Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurologic conditions described in patients, including stiff person syndrome, cerebellar ataxia, refractory epilepsy, and limbic and extralimbic encephalitis. There have been some case reports and investigations regarding anti-GAD65 antibody-associated encephalitis in adult populations, but pediatric cases are rare. We retrospectively analyzed the clinical data of three anti-GAD65 antibody-positive patients to explore the diversity and clinical features of anti-GAD65 antibody-associated pediatric autoimmune encephalitis.

Clinical Features and Outcomes of Anti-N-Methyl-d-Aspartate Receptor Encephalitis in Infants and Toddlers.

Objective: We describe the clinical features and outcomes of anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis in infants and toddlers.

Methods: This was a single-center retrospective study. Infants and toddlers who met the diagnostic criteria for anti-NMDAR encephalitis were recruited for the study.