Identification of compound heterozygous variants: a case report.

Background: Laminin-α2 () chain-deficient muscular dystrophy (-MD) is the most common congenital muscular dystrophy (CMD) in the world. Its main manifestations are muscle weakness and hypotonia that occur after birth or at early infancy.

Case Description: We reported a case of a 3-year-old and 6-month-old boy presented with delayed motor development, elevated creatine kinase (CK) levels, and abnormal white matter in the brain.

Neutrophil-to-lymphocyte ratio associated with renal function in type 2 diabetic patients.

Background: Type 2 diabetes mellitus (T2DM) is a leading risk factor for the development and progression of chronic kidney disease (CKD). However, an accurate and convenient marker for early detection and appropriate management of CKD in individuals with T2DM is limited. Recent studies have demonstrated a strong correlation between the neutrophil-to-lymphocyte ratio (NLR) and CKD.

Effect of 5:2 Regimens: Energy-Restricted Diet or Low-Volume High-Intensity Interval Training Combined With Resistance Exercise on Glycemic Control and Cardiometabolic Health in Adults With Overweight/Obesity and Type 2 Diabetes: A Three-Arm Randomized Controlled Trial.

Objective: We aimed to examine the effects of a 5:2 diet (2 days per week of energy restriction by formula diet) or an exercise (2 days per week of high-intensity interval training and resistance training) intervention compared with routine lifestyle education (control) on glycemic control and cardiometabolic health among adults with overweight/obesity and type 2 diabetes.

Research Design And Methods: This two-center, open-label, three-arm, parallel-group, randomized controlled trial recruited 326 participants with overweight/obesity and type 2 diabetes and randomized them into 12 weeks of diet intervention (n = 109), exercise intervention (n = 108), or lifestyle education (control) (n = 109). The primary outcome was the change of glycemic control measured as glycated hemoglobin (HbA1c) between the diet or exercise intervention groups and the control group after the 12-week intervention.

Hemolysin Co-Regulatory Protein 1 Enhances the Virulence of Clinically Isolated in KM Mice by Increasing Inflammation and Inducing Pyroptosis.

Hemolysin-coregulated protein 1 (Hcp1) is an effector released by the type VI secretion system (T6SS) in certain pathogenic strains of () that causes apoptosis and contributes to the development of meningitis. The exact toxic consequences of Hcp1 and whether it intensifies the inflammatory response by triggering pyroptosis are yet unknown. Here, utilizing the CRISPR/Cas9 genome editing method, we removed the gene expressing Hcp1 from wild-type W24 and examined the impact of Hcp1 on virulence in Kunming (KM) mice.

Clinical characteristics and associated factors of pediatric acute disseminated encephalomyelitis patients with MOG antibodies: a retrospective study in Hangzhou, China.

Background: To explore the clinical characteristics and related factors of children with acute disseminated encephalomyelitis (ADEM) with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibody.

Methods: A retrospective study was conducted and enrolled pediatric ADEM patients who underwent serum MOG antibody detection from May 2017 to August 2020. The patients were divided into two groups: MOG- immunoglobulin G (IgG) positive (n = 35) and MOG-IgG negative (n = 50).

Early life exposure to chronic unpredictable stress induces anxiety-like behaviors and increases the excitability of cerebellar neurons in zebrafish.

Anxiety is a common emotional disorder in children. To understand its underlying mechanisms, chronic unpredictable stress (CUS) has been established as a stress model in zebrafish. By using the tall tank test, the stress response reliability could be improved in adult fish which has not been confirmed in larvae.

Efficacy, Retention Rate, and Influencing Factors of Ketogenic Diet Therapy in Children with Refractory Epilepsy: A Retrospective Study.

Background: This study aimed to evaluate the efficacy and retention rate of a ketogenic diet (KD) and assess factors that influence the efficacy of KD therapy in children with refractory epilepsy (RE).

Methods: We retrospectively studied the efficacy and retention rate of 56 RE children who accepted KD therapy from January 2013 to December 2019. Patients who had a ≥50% reduction in seizure frequency were defined as responders.

Insulin-Like Growth Factor-1 Down-Regulates the Phosphorylation of FXYD1 and Rescues Behavioral Deficits in a Mouse Model of Rett Syndrome.

Rett syndrome (RTT) is a neurodevelopmental disease in children that is mainly caused by mutations in the gene, which codes for a transcriptional regulator. The expression of insulin-like growth factor-1 (IGF-1) is reduced in RTT patients and animal models, and IGF-1 treatment is a promising therapeutic strategy for RTT. However, the mechanism underlying the effects of IGF-1 remains to be further explored.

Diagnostic Yield of Pneumococcal Antigen Detection in Cerebrospinal Fluid for Diagnosis of Pneumococcal Meningitis Among Children in China.

Objective: To determine the diagnostic accuracy of pneumococcal antigen detection in diagnosis of pneumococcal meningitis in children.

Methods: Purulent meningitis was diagnosed according to European Society for Clinical Microbiology and Infectious Diseases (ESCMID) guideline between July 2014 and June 2016. Along with a cerebrospinal fluid (CSF) culture, pneumococcal antigen detection in cerebrospinal fluid (CSF) was performed, and further identification of pathogens was done with 16S rDNA-PCR and high-throughput sequencing.

The Blood Levels of Trace Elements Are Lower in Children With Tic Disorder: Results From a Retrospective Study.

Tic disorders (TD) are common neuropsychiatric disorders among children and adolescents. It is controversial that trace elements may participate in the pathogenesis of TD. Our study aimed to investigate the trace elements status of zinc (Zn), copper (Cu), iron (Fe), and magnesium (Mg) in children with TD, in comparison to healthy controls.

β-Catenin Controls the Electrophysiologic Properties of Skeletal Muscle Cells by Regulating the α2 Isoform of Na/K-ATPase.

β-Catenin is a key component of the canonical Wnt signaling pathway. It has been shown to have an important role in formation of the neuromuscular junction. Our previous studies showed that in the absence of β-catenin, the resting membrane potential (RMP) is depolarized in muscle cells and expression of the α2 subunit of sodium/potassium adenosine triphosphatase (α2NKA) is reduced.

Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy.

Introduction: Duchenne muscular dystrophy (DMD) is an X-linked autosomal recessive genetic disorder caused by mutations in DMD gene. Approximately 70% of the mutations are caused by deletions or duplications of DMD exons, while the remaining were minor mutations.

Case Report: We present a 5-year-old boy with typical clinical features of DMD.

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion associated with Mycoplasma pneumoniae infection.

Background: Clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinico-radiological syndrome characterized by transient mild symptoms of encephalopathy and a reversible lesion in the splenium of the corpus callosum on magnetic resonance imaging (MRI). It is often triggered by infection. The common pathogens of MERS are viruses, especially influenza virus.

Cerebral Sparganosis in Children: Epidemiologic and Radiologic Characteristics and Treatment Outcomes: A Report of 9 Cases.

Background: Pediatric cerebral sparganosis has been seldom reported. In the current study, we retrospectively reviewed the clinicopathologic records of 9 consecutive pediatric cases of cerebral sparganosis and analyzed their epidemiologic characteristics and clinical outcomes.

Methods: Our cases included 6 boys and 3 girls, all from rural areas, and their median age at diagnosis was 9.

Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.

Background: Wilson's disease (WD) is an autosomal recessive genetic disorder of copper metabolism, caused by mutations in the ATP7B gene, resulting in copper accumulation in the liver, brain, kidney, and cornea and leading to significant disability or death if untreated. Early diagnosis and proper therapy usually predict a good prognosis, especially in pre-symptomatic WD. Genetic testing is the most accurate and effective diagnostic method for early diagnosis.

Reversible bilateral striatal lesions following Mycoplasma pneumoniae infection associated with elevated levels of interleukins 6 and 8.

Background: Reversible bilateral striatal necrosis associated with Mycoplasma pneumoniae (M. pneumoniae) infection is a rare neurological disease. The exact pathogenic mechanism remains unknown.

[The protective effect of Xuebijing injection pretreatment on hepatic ischemia reperfusion injury and coagulopathy after excision of liver cancer].

Objective: To observe the protective effect of Xuebijing injection pretreatment on hepatic ischemia reperfusion (I/R) injury and coagulopathy in liver cancer patients undergoing excision of hepatic cancer after occlusion of hepatic blood flow.

Methods: A prospective randomly controlled study was conducted. Sixty patients with liver cancer classified as Child-Pugh class A undergoing hepatectomy in the Department of Hepatobiliary Surgery of Sun Yat-sen University Cancer Center from October 2011 to March 2013 were enrolled.

The persistent effects of maternal infection on the offspring's cognitive performance and rates of hippocampal neurogenesis.

Accumulating evidence indicates that perinatal infection is a major cause of neonatal neurologic morbidity. Here we explored the effects of maternal infection on the offspring's cognitive performance and hippocampal neurogenesis. Pregnant rats were treated with Escherichia coli suspension and allowed to deliver.