[The Role of Notch Signaling Pathway in Adult Patients with Epstein-Barr Virus-induced Infectious Mononucleosis].

Objective: To investigate the changes of Notch signaling molecules and Th22 cells in adult patients with infectious mononucleosis (IM), and assess the regulatory function of Notch signaling inhibition to Th22 cells.

Methods: Forty-two IM patients and twenty-one healthy controls were enrolled in this study. Their peripheral blood was collected, from which plasma and peripheral blood mononuclear cells (PBMCs) were isolated.

A biochemical feedback signal for hypothermia treatment for neonatal hypoxic-ischemic encephalopathy: focusing on central nervous system proteins in biofluids.

Hypothermia has been widely used to treat moderate to severe neonatal hypoxic-ischemic encephalopathy (HIE), yet evaluating the effects of hypothermia relies on clinical neurology, neuroimaging, amplitude-integrated electroencephalography, and follow-up data on patient outcomes. Biomarkers of brain injury have been considered for estimating the effects of hypothermia. Proteins specific to the central nervous system (CNS) are components of nervous tissue, and once the CNS is damaged, these proteins are released into biofluids (cerebrospinal fluid, blood, urine, tears, saliva), and they can be used as markers of brain damage.

Three Novel Heterozygous Mutations of NPHS1 Gene Causing Infants with Congenital Nephrotic Syndrome: Two Chinese (Han) Cases.

Background: Congenital nephrotic syndrome (CNS) of the Finnish type (CNF) is an autosomal recessively disorder. NPHS1 gene mutation is the main gene responsible for CNF. This study aimed to explore the clinical manifestations and the characteristics of genetic variation in Chinese patients with CNS.

Novel classification and risk model based on ferroptosis-related lncRNAs to predict oncologic outcomes for gastric cancer patients.

Gastric cancer (GC) is a highly heterogeneous malignancy, characterized by high mortality and poor prognosis. Ferroptosis is a newly defined nonapoptotic programmed cell death mechanism that has been implicated in the development of various pathological conditions. We aimed to identify ferroptosis-related long noncoding RNA (lncRNAs) that might be used to predict GC prognosis.

Effect of Hypothermia on Serum Myelin Basic Protein and Tumor Necrosis Factor-α in Neonatal Hypoxic-Ischemic Encephalopathy.

Objective: Multiple randomized controlled trials have shown that hypothermia is a safe and effective treatment for neonatal moderate or severe hypoxic-ischemic encephalopathy (HIE). The neuroprotective mechanisms of hypothermia need further study. The aim of this study was to investigate the effect of hypothermia on the serum levels of myelin basic protein (MBP) and tumor necrosis factor-α (TNF-α) as well as neurodevelopmental outcomes in neonatal HIE.

Neonate with Congenital Thrombotic Thrombocytopenic Purpura: a Case Report of a de novo Compound Heterozygote Mutation in ADAMTS13 Gene and Review of Literature.

Background: Congenital thrombotic thrombocytopenic purpura (TTP) is rare and is prone to misdiagnosis or missed diagnosis in clinical. The relationship between genotype and phenotype needs further study.

Methods: A 15-hour-old Chinese girl develops jaundice.

Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.

Objective: To investigate the clinical and genetic characteristics of neonatal Crohn's disease (CD), improve recognition of neonatal CD, and reduce the number of patients that are missed or misdiagnosed.

Methods: A 10-day-old Chinese girl with oral ulcers was admitted to the Department of Neonatology. She later developed a rash and perianal disease, but without diarrhea and stool abnormalities.

Rare double heterozygosity for poly A(A〉 G) and CD17(A〉 T) of beta thalassemia intermedia in a Chinese family.

Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. Three types have been defined, based on the degree of reduced beta-globin chain synthesis and clinical phenotype: major, intermedia and minor (heterozygote carrier state). Beta thalassemia intermedia is characterized by heterogeneity for the wide clinical spectrum of various genotypes and a wide range of presentations.

A Case Report of Primary Neonatal Hypocholinesterase Caused by Homozygous Frameshift Mutation of the utyrylcholinesterase (BCHE) Gene and Review of Literature.

Background: Primary neonatal hypocholinesterase is rare; its genetic pattern and mutation still need to be further studied.

Methods: The patient and his parents are studied using next-generation sequencing technology.

Results: A boy one day after birth is admitted to the Neonatal Intensive Care Unit at our hospital after experiencing intermittent vomiting for 12 hours.

Study on serum Tau protein level and neurodevelopmental outcome of placental abruption with neonatal hypoxic-ischemic encephalopathy.

The aim of this study was to explore differences in serum Tau protein levels and neurodevelopmental prognoses of placental abruption or umbilical cord around neck with hypoxic-ischemic encephalopathy (HIE). Forty neonates with moderate/severe HIE divided into placental abruption with HIE group (placental abruption with hypoxic-ischemic encephalopathy (PA-HIE) group) ( = 18) and umbilical cord around the neck with HIE group (umbilical cord around the neck with hypoxic-ischemic encephalopathy (UCAN-HIE) group) ( = 22). Healthy term newborns comprised the control group ( = 35).

SATB2-Associated Syndrome: a Case Report of a De Novo Nonsense Mutation in SATB2 from China and Review of Literature.

Background: To study the clinical and genetic features from a Chinese child with SATB2-associated syndrome (SAS) and review of literature.

Methods: The girl, 2 years 3 months old, is admitted to the Department of Pediatric Rehabilitation in our hospital. This patient has mental retardation, language development disorder, cleft palate II0, micrognathia, malocclusion, irritability and bilateral oblique palpebral fissure as a clinical manifestation and is treated for 3 months.

Neonatal hypoxic-ischemic encephalopathy: emerging therapeutic strategies based on pathophysiologic phases of the injury.

Neonatal hypoxic ischemic encephalopathy (HIE) is an important cause of neonatal death and disability. At present, there is no unified standard and specialized treatment method for neonatal HIE. In clinical practice, we have found that a gap remains between preclinical medical research and clinical application in the treatment of neonatal HIE.

Effect of erythropoietin combined with hypothermia on serum tau protein levels and neurodevelopmental outcome in neonates with hypoxic-ischemic encephalopathy.

Although hypothermia therapy is effective to treat neonatal hypoxic-ischemic encephalopathy, many neonatal patients die or suffer from severe neurological dysfunction. Erythropoietin is considered one of the most promising neuroprotective agents. We hypothesized that erythropoietin combined with hypothermia will improve efficacy of neonatal hypoxic-ischemic encephalopathy treatment.

Predictive Value of Neurodevelopmental Outcome and Serum Tau Protein Level in Neonates with Hypoxic Ischemic Encephalopathy.

Background: Tau protein is s specific protein expressed by neurons in the central nervous system. Elevated serum Tau protein is associated with many diseases of the central nervous system. The serum Tau protein level in neonates with hypoxic ischemic encephalopathy (HIE) is still poorly understood.

Neuronavigation-assisted trajectory planning for deep brain biopsy with susceptibility-weighted imaging.

Background: Susceptibility-weighted imaging (SWI) exploits susceptibility differences between tissues to enhance contrast in magnetic resonance imaging to enable the visualization of small blood vessels that are difficult to detect by other contrast agents. This study explored the value of SWI-based planning for neuronavigation-guided deep brain biopsies to reduce the incidence of post-surgical complications.

Methods: The cohort of 84 patients was divided into 41 biopsies performed aided by SWI (SWI group) and 43 biopsies based on conventional T1w-Gd-based imaging (T1w-Gd group).

Neonatal hypoxic ischemic encephalopathy-related biomarkers in serum and cerebrospinal fluid.

Neonatal hypoxic ischemic encephalopathy (HIE) is a common disease caused by perinatal asphyxia, a major cause of neonatal death, neurological behavior, and long-term disability. Currently, the diagnosis and prognosis of neonatal HIE are based on nervous system clinical manifestations, imaging and electrophysiological examination. These take time and late diagnosis allows brain injury to occur in newborns, so that infants of many brain injury missed the best treatment time, left with varying degrees of neurological sequelae.

Immunoexpression and prognostic role of p53 in different subtypes of epithelial ovarian carcinoma.

We sought to investigate the significance of p53 expression for epithelial ovarian carcinoma. In this study, we used immunohistochemical method to investigate the expression patterns of p53 in different subtypes of epithelial ovarian carcinoma. We found that the expressions of p53 protein in epithelial ovarian cancer (pituita, serosity and intima) were 88.

Activities of autonomic neurotransmitters in Meibomian gland tissues are associated with menopausal dry eye.

The secretory activities of meibomian glands are regulated by the autonomic nervous system. The change in density and activity of autonomic nerves in meibomian glands during menopause play an important role in the pathogenesis of dry eye. In view of this, we established a dry eye rat model by removing the bilateral ovaries.

Autophagy induced by baicalin involves downregulation of CD147 in SMMC-7721 cells in vitro.

Baicalin has been demonstrated to exert anticancer effects mainly through induction of tumor cell apoptosis and cell cycle arrest. However, the precise mechanisms underlying its anticancer role remain to be elucidated. In the present study, we investigated whether autophagy was involved in the anticancer activity of baicalin in the human hepatocellular carcinoma (HCC) cell line SMMC-7721 and the possible molecular mechanisms.

[Analysis of the mode of inheritance in familial bronchial asthma].

To study the mode of inheritance of familial bronchial asthma and to understand the population genetics laws of bronchial asthma, Families with a family history of bronchial asthma in Handan region were investigated using group research method. The xi2 test of the degree of coincidence between the expected and observed values was analyzed by pedigree analysis and the "Smith" agonic revise method. The incidence rate within the 72 families pedigree with familial bronchial asthma, including 109 core pedigrees, is 0.