Clinical characteristics of pulmonary cryptococcosis patients with different immune statuses: A 10-year multicenter retrospective study in China.

Background And Objective: We aimed to evaluate clinical characteristics and therapeutic efficacy of pulmonary cryptococcosis (PC) in patients with different immune status in a large multicenter population to support appropriate clinical management of this public health threat.

Methods: We retrospectively investigated the medical records of 510 patients with PC from January 2014 to June 2023 in 10 representative regional tertiary teaching hospitals in Hubei province of China, and clinical data of these patients were then stratified by different immune statuses.

Results: Immunocompetent (IC) patients accounted for 68.

A rare pediatric patient of anti-IgLON5 encephalitis with epileptic seizures as the first symptom.

Background: Anti-IgLON5 encephalitis was a rare neurological and heterogeneous disorder, which was mainly found in adults. Epileptic seizures related to anti-IgLON5 disease were rarely reported.

Methods: Neural antibodies associated with autoimmune encephalitis in serum and cerebrospinal fluid (CSF) were tested using cell-based assays (CBA) with immunofluorescence double staining.

A case of variant of GBS with positive serum ganglioside GD3 IgG antibody.

Background: Acute bulbar palsy-plus (ABPp) syndrome is an unusual variant of Guillain-Barré syndrome (GBS). Anti-GT1a and anti-GQ1b antibodies have been reported in patients with ABPp, but without reports related to GD3 antibodies.

Methods: Clinical data of a patient diagnosed as ABPp syndrome were reviewed clinically.

The regulation and potential role of interleukin-32 in tuberculous pleural effusion.

The possible protective effect of interleukin-32 (IL-32) in () infection has been indicated. However, few studies have been focused on IL-32 in tuberculosis patients. Additionally, the regulation of IL-32 production has rarely been reported.

Clinical Characteristics of Tracheobronchopathia Osteochondroplastica: A Retrospective Study of 33 Patients.

Introduction: Tracheobronchopathia osteochondroplastica (TO) is a relatively rare benign tracheobronchial disease, which is often misdiagnosed or missed. To date, there is no specific treatment for TO. The aim of this study was to investigate the clinical manifestations, imaging features, bronchoscopy results, pathological findings, and diagnostic points of TO.

Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review.

Introduction: Hemiplegic migraine (HM) is a rare subtype of migraine. HM in children may be atypical in the initial stage of the disease, which could easily lead to misdiagnosis.

Methods: We report two cases of atypical hemiplegic migraine that onset as an acute encephalopathy.

Aerodynamic performance of a ventilation system for droplet control by coughing in a hospital isolation ward.

Over 766 million people have been infected by coronavirus disease 2019 (COVID-19) in the past 3 years, resulting in 7 million deaths. The virus is primarily transmitted through droplets or aerosols produced by coughing, sneezing, and talking. A full-scale isolation ward in Wuhan Pulmonary Hospital is modeled in this work, and water droplet diffusion is simulated using computational fluid dynamics (CFD).

Multidrug-resistant tuberculosis in middle ear: A case report.

Background: Tuberculosis (TB) continues to be a common disease in developing countries, among which middle ear TB is rare. Furthermore, it is relatively difficult to make an early diagnosis and provide follow-up treatment for middle ear TB. So, it is necessary to report this case for reference and further discussion.

Effect of a modified regimen on drug-sensitive retreated pulmonary tuberculosis: A multicenter study in China.

Background And Objective: Retreatment pulmonary tuberculosis (PTB) still accounts for a large proportion of tuberculosis, and the treatment outcome is unfavorable. The recurrence of retreatment PTB based on long-term follow-up has not been well demonstrated. This study aimed to evaluate effect of a modified regimen on drug-sensitive retreated pulmonary tuberculosis.

TMEM173 rs7447927 genetic polymorphism and susceptibility to severe enterovirus 71 infection in Chinese children.

Introduction: This study was designed to explore the association between the TMEM173 polymorphism (rs7447927) and the severity of enterovirus 71 (EV71) infection among Chinese children.

Methods: The TMEM173 polymorphism was identified in EV71-infected patients (n = 497) and healthy controls (n = 535) using the improved multiplex ligation detection reaction (iMLDR). The interferon-α (IFN-α) serum levels were detected using enzyme linked immunosorbent assay (ELISA).

A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.

Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes of these changes. De novo variants in an increasing number of candidate genes have been found to be causal.

Guillain-Barré syndrome with unilateral peripheral facial paralysis in a Chinese child.

Background: Guillain-Barré syndrome (GBS) is an immune-mediated polyradiculoneuropathy with the classic presentation of acute onset neurological symptoms preceded by an infective illness, followed by progressive limb weakness. Unilateral facial paralysis is rarely seen in GBS.

Case Presentation: We reported a child presented with unilateral facial paralysis, limited outward movement of one eye and unilateral lower limb weakness, who was later diagnosed to have GBS.

Association of the IRAK4 rs4251545 genetic polymorphism with severity of enterovirus-71 infection in Chinese children.

Introduction: This study aimed to explore the association between the IRAK4 polymorphism rs4251545 and the severity of enterovirus 71 (EV71) infection in Chinese children.

Methods: We analyzed the IRAK4 polymorphism rs4251545 in 617 EV71-infected patients and 410 controls using the improved multiplex ligation detection reaction. IRAK4 mRNA expression was tested by qRT-PCR.

A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.

Background: With the rapid development of genetic detection technology, especially next-generation sequencing, identification of the aetiology of unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The purpose of our paper is to make a definitive diagnosis of a girl with neonatal hypotonia, severe global developmental delay, seizures and mild facial dysmorphism.

Methods: The clinical data of the patient were retrospectively studied.

Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann-Pick disease type C.

Background: Niemann-Pick disease type C (NPC) is an autosomal recessive lipid storage disorder, affecting the nervous system and the internal organs. It is characterized by the presence of foam cells in bone marrow, liver, and spleen biopsies. Although many mutations in NPC1 have been identified to be related to disease onset, the relationship between genotype and phenotype remains unclear.

Clinical study of recurrent mild encephalitis/encephalopathy with a reversible splenial lesion in two cases.

Background: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) has been reported worldwidely. However, the data about recurrent cases is limited. We aimed to analyze the clinical and radiographic features of recurrent MERS, and its possible mechanisms.

A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child.

Heterozygous missense mutations in TUBB3 have been implicated in various neurological disorders encompassing either isolated congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or complex cortical dysplasia with other brain malformations 1 (CDCBM1). The description of seizures in patients with TUBB3 mutations is rare. Here, we reported a patient who had febrile seizures before and focal seizure this time, which was diagnosed as epilepsy in combination with an abnormal EEG.

A cohort study of mild encephalitis/encephalopathy with a reversible splenial lesion in children.

To investigate the clinical features, imaging features, and prognosis of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children METHODS: The clinical and imaging data of a cohort of 28 children diagnosed as MERS from January 2019 to October 2020 were retrospectively analyzed RESULTS: Of the 28 patients, 17 were males and 11 were females. The onset age ranged from 8 months to 12 years old, with an average age of 4 years and 2 months. All children developed normally before onset, and three of them had a history of febrile convulsion.

De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review.

Variants in HNRNPU have been reported in patients with epileptic encephalopathy, early infantile 54 (OMIM 602,869). We hereby describe two children from different families with autosomal dominance early-onset epileptic encephalopathy and summarize the genotype and phenotype of reported individuals. Whole-exome sequencing analysis was applied to the patients.

Hemiconvulsion-hemiplegia-epilepsy syndrome with 5q33.3q34 microdeletion: Causal or chance association.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. We presented a girl with global developmental delay with history and brain MRI consistent with the diagnosis of HHE syndrome. The cytogenetic microarray (CMA) showed 9.

MOG antibody-positive cerebral cortical encephalitis: Two case reports and literature review.

Objective: To investigate the clinical and MRI features of myelin oligodendrocyte glycoprotein (MOG) antibody-positive cerebral cortical encephalitis.

Methods: To summarize the clinical manifestations, magnetic resonance imaging (MRI) features, and diagnosis and treatment of two children diagnosed with MOG antibody-positive cortical encephalitis in our hospital, and to analyze all of the literature on MOG antibody-positive associated cerebral cortical encephalitis published in the last 10 years.

Results: A total of 24 patients, 20 adults, and 4 children were included.

[Identification of a novel mutation of MBD5 gene in a pedigree affected with autosomal dominant mental retardation type 1].

Objective: To explore the genetic basis for a child with mental and motor retardation, language impairment, facial dysmorphism and epilepsy.

Methods: Whole exome sequencing was carried out to detect pathogenic variant in the proband, and candidate variant was selected based on his phenotype. Sanger sequencing was used to verify the variant in the proband, his parents and other family members.

Report of a case with ferredoxin reductase (FDXR) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation.

Ferredoxin reductase (FDXR), located in 17q25.1, encodes for a mitochondrial NADPH: adrenodoxin oxidoreductase or ferredoxin reductase, the sole human ferredoxin reductase involved in the biosynthesis of iron-sulfur (Fe-S) clusters and heme formation. Iron-sulfur (Fe-S) clusters are involved in enzymatic catalysis, gene expression, and DNA replication and repair.

A case of TSC2-PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy.

Polycystic kidney disease with Tuberous sclerosis is a disease caused by the deletions of the TSC2-PKD1 gene. The disease is rarely reported and the characterized manifestation is severe polycystic kidney growth. The diagnosis can be made by molecular analysis.