[Febrile infection-related epilepsy syndrome caused by hemophagocytic lymphohistiocytosis: a case report].

The patient was a girl, aged 10 years, who was admitted due to fever for 5 days and pancytopenia in peripheral blood for 2 days. Bone marrow examination showed the presence of phagocytic activity, and peripheral blood tests showed pancytopenia, an increase in ferritin, a reduction in fibrinogen, increases in triglyceride and sCD25, and a reduction in natural killer cell activity, which led to the diagnosis of hemophagocytic lymphohistiocytosis (HLH). On the day of admission, the child developed convulsions and rapidly progressed to refractory status epilepticus, which was consistent with the manifestations of febrile infection-related epilepsy syndrome.

Combined dupilumab with immunotherapy is more effective than dupilumab alone in children with moderate-to-severe atopic dermatitis.

Background: Dupilumab for patients with moderate-to-severe atopic dermatitis (AD) does not maintain efficacy after discontinuation, while subcutaneous immunotherapy (SCIT) with enduring efficacy may be useful as a complementary treatment to dupilumab.

Objective: This study aimed to compare the efficacy between dupilumab alone and SCIT as an adjunctive treatment in children with moderate-to-severe AD, and assess the long-term clinical and immunological outcomes of this combination approach.

Methods: In this real-world study, patients with moderate-to-severe AD, who had IgE-mediated sensitization to house dust mites with varying degrees of respiratory symptoms, were divided into two treatment groups: Dupilumab + SCIT (n = 22) and dupilumab alone (n = 24).

Glutamine potentiates cefoperazone-sulbactam activity against by increasing membrane permeability and cellular uptake.

Purposes: The combination of an antibiotic with a metabolic reprogramming agent is anticipated to emerge as a promising therapeutic strategy against antibiotic-resistant bacteria, though this hypothesis requires validation through preclinical pharmacodynamic studies.

Methods: This study evaluated the preclinical pharmacodynamic profile of cefoperazone-sulbactam (SCF) combined with glutamine against clinical isolates, including 54 antibiotic-sensitive (S-PA), 20 multidrug-resistant (MDR-PA), and 185 carbapenem-resistant strains (CR-PA).

Results: The combination demonstrated synergistic efficacy in 251 cases (96.

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Background: Epilepsy (EP) and intellectual disability (ID) are two highly correlated diseases that seriously impact neurodevelopment in children. Precision diagnosis of EP and ID remains challenging due to their clinical and genetic heterogeneity, necessitating a profound understanding of disease characteristics.

Methods: We provide a clinical and genetic landscape of 2261 Chinese patients performed chromosome microarray analysis (CMA) or next-generation sequencing to uncover causal copy number variants (CNVs) or single-nucleotide variants (SNVs).

Application of High-Resolution Magnetic Resonance Vessel Wall Imaging in Childhood Primary Angiitis of the Central Nervous System.

BackgroundChildhood primary angiitis of the central nervous system is a rare inflammatory disorder affecting the central nervous system in children. High-resolution magnetic resonance vessel wall imaging is less frequently used in the childhood primary angiitis of the central nervous system. This study aimed to investigate the value of high-resolution magnetic resonance vessel wall imaging in childhood primary angiitis of the central nervous system.

Gene therapy with covalently closed-end AAV vector for spinal muscular atrophy.

Covalently closed-end adeno-associated virus (cceAAV) vector is a new generation of self-complementary adeno-associated virus (scAAV) vector that does not utilize a mutant inverted terminal repeat (ITR) for vector production. Importantly, packaged genomes of these cceAAV vectors are markedly more intact than traditional scAAVs, which typically contain a large fraction of incomplete genomes, including many that lost their self-complementary configuration. Here, we report the first in-human experience with a cceAAV vector.

Clinical features and outcomes in pediatric patients with cortical laminar necrosis: a single-center retrospective study.

Background: Cortical laminar necrosis (CLN) is a selective cortical necrosis primarily involving layer 3 of the cortex. Its causes, clinical features, and outcomes in pediatric patients remain unclear due to limited cases.

Methods: Pediatric CLN patients from Xiangya Hospital from January 2014 to December 2024 were enrolled.

Small mammals in a biodiversity hotspot harbor viruses of emergence risk.

Metagenomic sequencing has transformed the understanding of viral diversity in wildlife and the potential threats these viruses pose to human health. Despite this progress, such sequencing studies often have lacked systematic and ecologically informed sampling, thereby likely missing many potential human pathogens and the drivers behind their ecology, evolution and emergence. We conducted an extensive search for viruses in the lungs, spleens and guts of 1688 mammals from 38 species across 428 sites in Yunnan Province, China-a hotspot for zoonoses emergence.

Relationship between infection and programmed death-ligand 1 in gastric cancer: A meta-analysis.

Background: Gastric cancer (GC) is one of the most common malignancies worldwide, and (HP) infection is a well-established risk factor for its development. Programmed death-ligand 1 (PD-L1) expression is a crucial biomarker for predicting the efficacy of immune checkpoint inhibitors in cancer treatment. While HP infection and PD-L1 expression in GC may be linked, the relationship between them remains unclear, in part because there have been conflicting results reported from various studies.

Anti-GAD65 Antibodies Related Refractory Epilepsy Successfully Treated with Tocilizumab: A Case Report and Systematic Literature Review.

Background: Although anti-GAD65 related epilepsy is rare, it needs more attention because it is refractory to the conventional therapies, has poor outcome and high relapse rate. In this study, we intended to report the efficacy of tocilizumab in the treatment of anti-GAD65 antibodies related refractory epilepsy based on our center's experience and literature review.

Methods: The clinical data of the patients managed with tocilizumab at Xiangya Hospital and those from the literature was collected and analysed.

[Nusinersen combined with risdiplam for the treatment of spinal muscular atrophy: a case series of 10 patients and literature review].

Objectives: To explore the efficacy and adverse reactions of nusinersen combined with risdiplam in the treatment of spinal muscular atrophy (SMA).

Methods: A retrospective analysis was conducted on the clinical data of 10 pediatric SMA patients treated with nusinersen combined with risdiplam at the Children's Medical Center of Xiangya Hospital, Central South University.

Results: Among the 10 SMA patients, there were 4 with type I, 4 with type II, and 2 with type III.

A Case Series of Anti-Metabotropic Glutamate Receptor 2 Antibody-Related Diseases with Distinct Neurological Involvement.

Background: Anti-metabotropic glutamate receptor 2 (mGluR2)-related diseases are rare autoimmune disorders of the central nervous system that primarily affect the cerebellum and are occasionally associated with malignancies.

Methods: Data, including demographics, symptoms, blood and cerebrospinal fluid (CSF) tests, and brain magnetic resonance imaging (MRI), were retrospectively collected from two patients with informed consent at Xiangya Hospital from February 2024 to October 2024. Autoantibodies associated with autoimmune encephalitis were tested using cell-based assays.

Clinical Efficacy of a Family-Centered Nursing Model on Emotional Behavior and Quality of Life in Children With Acute Otitis Media.

Objective: To explore the effect of a family-centered care (FCC) model on clinical efficacy, quality of life, and the emotional behavior of children with acute otitis media (AOM) in an otolaryngology clinic.

Methods: Data were collected from a hospital otolaryngology clinic in relation to 112 cases of children with AOM who met the inclusion criteria. These cases were randomly divided into 2 groups of 62 patients each.

Anlotinib-induced sick sinus syndrome: Two case reports.

Background: This manuscript describes the first known cases of sick sinus syndrome (SSS) associated with the use of anlotinib in non-small cell lung cancer patients, highlighting the need for increased vigilance and cardiac monitoring.

Case Summary: Two patients with non-small cell lung cancer developed SSS after 15 months and 5 months of anlotinib treatment, respectively, presenting with syncope and palpitations. Electrocardiogram confirmed SSS, and different treatment approaches were taken for each patient.

The utilization of the multimodal immunotherapy for the opsoclonus-myoclonus syndrome can reduce relapses and permanent neurological sequelae.

Background: There is no known effective treatment strategy to prevent relapses and avert permanent neurological sequelae in opsoclonus-myoclonus syndrome (OMS). To describe the treatment strategy that reduced relapses and led to remission of OMS without permanent neurological sequelae.

Methods: This cross-sectional study was conducted at the Department of Pediatrics, Xiangya Hospital, Central South University.

Targeted delivery of polymeric NO-donor micelles to hepatic stellate cells for restoration of liver function and inhibition of hepatic fibrosis.

Liver fibrosis is a prevalent liver disease associated with significant morbidity, and the activation of hepatic stellate cells (HSCs) serves as the primary causative factor driving the progression of liver fibrosis. However, capillarization of liver sinusoidal endothelial cells (LSECs) induced by hepatic fibrosis can reduce nitric oxide (NO) production and bioavailability, which consequently loses the ability to retain HSCs dormant, leading to amplified HSCs activation. Herein, an elaborate micelle (VN-M@BN) loaded with benazepril (BN) was constructed by self-assembly of polymeric NO donor, aiming for the controlled release of NO in liver fibrosis lesions thereby impeding the progression of liver fibrosis.

Anti-GluK2 Encephalitis in an Asian Child: A Case Report and Literature Review.

Background: Anti-glutamate kainate receptor subunit 2 (anti-GluK2) antibodies mediated encephalitis is very rare in both children and adults. This study aimed to describe the second report of the anti-GluK2 encephalitis worldwide, the first youngest patient worldwide, and the first case ever in Asia. Besides, this study provides a summary of the clinical manifestations of all previous reported cases.

Treatment of juvenile myasthenia gravis with tacrolimus: A cohort study.

Background: We investigated the proper timing, efficacy and safety of tacrolimus for juvenile myasthenia gravis (JMG).

Methods: We conducted a retrospective cohort study for JMG patients treated with tacrolimus at Xiangya Hospital, Central South University, Changsha, China from 2010 to 2023. The clinical information of patients with a follow-up of more than 1 year was collected.

Clinical characteristics and long-term outcome of CASPR2 antibody-associated autoimmune encephalitis in children.

Background: Contactin-associated protein-2(CASPR2) antibody-associated autoimmune encephalitis(AE) is rare in children. This study aimed to report the clinical characteristics and long-term outcome of CASPR2 autoimmunity in children to expand the disease spectrum.

Methods: Children who were hospitalized in our hospital with clinically suspected AE from May 2015 to April 2022 and underwent neuronal surface antibodies detections were retrospectively analyzed.

Transcriptomic Investigation of the Virus Spectrum Carried by Midges in Border Areas of Yunnan Province.

Yunnan province in China shares its borders with three neighboring countries: Myanmar, Vietnam, and Laos. The region is characterized by a diverse climate and is known to be a suitable habitat for various arthropods, including midges which are notorious for transmitting diseases which pose significant health burdens affecting both human and animal health. A total of 431,100 midges were collected from 15 different locations in the border region of Yunnan province from 2015 to 2020.

One-Pot Etching Pyrolysis to Defect-Rich Carbon Nanosheets to Construct Multiheteroatom-Coordinated Iron Sites for Efficient Oxygen Reduction.

Constructing multiheteroatom coordination structure in carbonaceous substrates demonstrates an effective method to accelerate the oxygen reduction reaction (ORR) of supported single-atom catalyst. Herein, the novel etching route assisted by potassium thiocyanate (KCNS) is developed to convert metal-organic framework to 2D defect-rich porous N,S-co-doped carbon nanosheets for anchoring atomically dispersed iron sites as the high-performance ORR catalysts (Fe-SACs). The well-designed KCNS-assisted etching route can generate spatial confinement template to direct the carbon nanosheet formation, etching condition to form defect-rich structure, and additional sulfur atoms to coordinate iron species.

Pediatric Ocular Myasthenia Gravis: Single-Center Experience.

Background: Currently, there is no universally accepted standard treatment for ocular myasthenia gravis (OMG) in children. We aimed to investigate the possible proper regimens and timing of treatment for pediatric OMG cases based on the clinical manifestations: OMG with ptosis only and OMG with other features.

Methods: One hundred and forty two OMG cases attended at the Department of Pediatrics, Xiangya Hospital, Central South University, from 2010 to 2019 were included, and information from medical records was reviewed and recorded.

Application of Machine-learning based on Radiomics Features in Differential Diagnosis of Superficial Lymphadenopathy.

Objective: The accurate diagnosis of superficial lymphadenopathy is challenging. We aim to explore a non-invasive and accurate machine-learning method for distinguishing benign lymph nodes, lymphoma, and metastatic lymph nodes.

Methods: The clinical data and ultrasound images of 160 patients with superficial lymphadenopathy (58 benign lymph nodes, 62 lymphoma, 40 metastatic lymph nodes) admitted to our hospital from January 2020 to November 2022 were retrospectively studied.