[Clinical characteristics and prognosis of acute pancreatitis in children].

Objectives: To study the clinical characteristics of acute pancreatitis (AP) in children.

Methods: A retrospective analysis was conducted on the children with AP who were hospitalized in the First Affiliated Hospital of Zhengzhou University from January 2020 to June 2022, and their clinical characteristics were summarized and analyzed.

Results: A total of 92 children with AP were included, with a male/female ratio of 1:1 and a mean age of (9±4) years.

Two cases of Kawasaki disease: Clinical characteristics and onset of fever and gastrointestinal symptoms.

Background: Kawasaki disease (KD) is a prevalent form of systemic vasculitis that can damage various organs and systems in children. Typical KD is not difficult to diagnose in clinical practice. In recent years, it has been shown that an increasing number of children do not satisfy the diagnostic criteria for typical KD.

Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage.

Purpose: The FAT1 gene encodes FAT atypical cadherin 1, which is essential for foetal development, including brain development. This study aimed to investigate the relationship between FAT1 variants and epilepsy.

Methods: Trio-based whole-exome sequencing was performed on a cohort of 313 patients with epilepsy.

The first case report of McLeod syndrome in an infant with a novel mutation (c.89C>A, p. Ser30X) in XK.

McLeod syndrome (MLS) is a rare multisystem disorder and X-linked recessive inheritance disorder caused by mutations of the X-linked Kx blood group (XK) gene. The manifestations progress slowly and mainly appear in middle age, which make it difficult to distinguish MLS from other neuromuscular disorders. Here, we present a case of a 10-month-old Chinese boy who was taken to hospital for herpes of the extremities and oral cavity along with febrile seizures in June 2017.

[Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy].

The purpose of this study is to analyze the family's clinical data of 22 children who were given an intended clinical diagnosis of Duchenne muscular dystrophy (DMD), and to explore the clinical value of next-generation sequencing (NGS) in the molecular diagnosis of DMD. The probands were simultaneously tested by NGS for a gene panel associated with hereditary neuromuscular disease and multiplex ligation-dependent probe amplification (MLPA) for the Dystrophin gene. The exon deletion/repetition mutations of the Dystrophin gene determined by both methods were compared and the point mutations of the Dystrophin gene were verified by Sanger sequencing.

Two new compounds from the roots of and their anti-inflammatory activities.

Aiming to investigate the bioactive constituents with anti-inflammatory activity from the roots of , two new compounds ( and ) were isolated from the extract of the roots of the plant. Their structures were elucidated on the basis of spectral analyses (UV, IR, NMR, and MS spectroscopy), as well as experimental and calculated electronic circular dichroism (ECD) analyses. All of the isolates were tested for their anti-inflammatory properties in terms of suppressing the production of NO in lipopolysaccharide-induced BV2 cells.

[Change in serum intestinal fatty acid binding protein and its significance in children with pneumonia and gastrointestinal injury].

Objective: To study the change in serum intestinal fatty acid binding protein (IFABP) in children with pneumonia and its correlation with gastrointestinal injury.

Methods: A total of 82 children with community-acquired pneumonia who were treated from January to October, 2015 were enrolled, among whom 34 had mild pneumonia and 48 had severe pneumonia. According to pediatric critical illness score (PCIS), the children with severe pneumonia were further divided into non-critical group (25 patients) and critical group (23 patients).

Selective targeting of MAPK family kinases JNK over p38 by rationally designed peptides as potential therapeutics for neurological disorders and epilepsy.

Human mitogen-activated protein kinase (MAPK) family members JNK and p38 are two homologous protein-serine/threonine kinases but play distinct roles in the pathological process of neurological disorders. Selective targeting of JNK over p38 has been established as a potential therapeutic approach to epilepsy and other nervous system diseases. Herein, we describe an integrated in vitro-in silico protocol to rationally design kinase-peptide interaction specificity based on crystal structure data.

Elevated interictal serum galectin-3 levels in intractable epilepsy.

Background: Intractable epilepsy is defined as the occurrence of seizures that cannot be controlled with medical treatment. The discovery of epilepsy biomarkers is increasingly attracting more attention from both clinical physicians as well as neuroscientists. Increased levels of soluble and/or cellular galectin-3 (Gal-3) have been associated with various diseases.

[Hydroa vacciniforme-like cutaneous T cell lymphoma: a case report and literature review].

Objective: To study the clinical features, diagnosis and therapy of hydroa vacciniforme-like cutaneous T cell lymphoma.

Methods: The clinical presentations and the findings of laboratory examinations and skin biopsy of affected tissue in a child with hydroa vacciniforme-like cutaneous T cell lymphoma were retrospectively reviewed.

Results: The child manifested as rash, fever and lymph node intumesce.

[Ten-year changes in pathogen, antimicrobial susceptibility and clinical feature of children with bacterial meningitis].

Objective: Despite progress in antibiotic therapy and intensive care, childhood bacterial meningitis (BM) remains a devastating disease. We conducted this study to investigate the changes in clinical characteristics, the etiologic agents and antimicrobial susceptibility of BM during the past 10 years in children under 14 years of age.

Methods: These 126 patients were divided into two groups according to their date of admission.

[Clinical study of 83 cases with spinal muscular atrophy in children].

Objective: Spinal muscular atrophy (SMA) is a common autosomal recessive disorder and represents one of the most common genetic causes of death in childhood. The last 10 years have seen major advances in the field of SMA, but no curative treatment is available so far. This study aimed to analyze the clinical characteristics of SMA, improve the clinical diagnosis of SMA, and explore the importance of gene diagnosis and prenatal diagnosis of SMA by gene deletion analysis.

[Effect of a novel splicing mutation (IVS2-2A-->C) of SEDL gene on RNA processing].

X-linked spondyloepiphyseal dysplasia tarda (SEDL) is a rare osteochondrodysplasia caused by the mutation of SEDL gene, which mainly involves vertebral bodies and hips. To explore the effect of the novel splicing mutation (IVS2 -2A-->C) of SEDL gene on mRNA processing in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to elucidate the molecular base of SEDL, total RNA was isolated from EDTA blood samples of patients and controls. RT-PCR was performed on total RNA.

[Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].

Objective: X linked spondyloepiphyseal dysplasia tarda (SEDL) is heritable osteochondrondysplasia characterized in affected males by disproportional short stature with short neck and trunk resulting from a growth defect of the vertebral bodies, accompanied by barrel chest and degenerative osteoarthropathy of hip joints. This progressive skeletal dysplasia is caused by the SEDL gene located approximately 100 kb centromeric of DXS16 at Xp22. The disorder usually manifests in late childhood without systemic complications, and generally female carriers of SEDL are asymptomatic.

[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].

Objective: To identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level.

Methods: In two patients, four exons comprising the SEDL open reading frame as well as their exon/intron boundaries were analyzed by bi-directional direct sequencing of PCR products. The sequencing results were compared against the normal sequences in GenBank to find the mutation.