Oxidative stress mediated decrement of spinal endomorphin-2 contributes to lumbar disc herniation sciatica in rats.

Increasing evidence supported that oxidative stress induced by herniated lumbar disc played important role in the formation of lumbar disc herniation sciatica (LDHS), however, the neural mechanisms underlying LDHS need further clarification. Endomorphin-2 (EM2) is the endogenous ligand for mu-opioid receptor (MOR), and there is increasing evidence implicating the involvement of spinal EM2 in neuropathic pain. In this study, using an nucleus pulposus implantation induced LDHS rat model that displayed obvious mechanical allodynia, it was found that the expression of EM2 in dorsal root ganglion (DRG) and spinal cord was significantly decreased.

Ndufa4 Regulates the Proliferation and Apoptosis of Neurons via miR-145a-5p/Homer1/Ccnd2.

The Dandy-Walker malformation (DWM) is characterized by neuron dysregulation in embryonic development; however, the regulatory mechanisms associated with it are unclear. This study aimed to investigate the role of NADH dehydrogenase 1 alpha subcomplex 4 (NDUFA4) in regulating downstream signaling cascades and neuronal proliferation and apoptosis. Ndufa4 overexpression promoted the proliferation of neurons and inhibited their apoptosis in vitro, which underwent reverse regulation by the Ndufa4 short hairpin RNAs.

The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study.

Currently, there are still many challenges in prenatal diagnosis, such as limited or uncertain fetal phenotyping, variant interpretation, and rapid turnaround times. The aim of this study was to illustrate the value of a comprehensive genomic evaluation in prenatal diagnosis. We retrospectively reviewed 20 fetuses with clinically significant copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) and no further exome sequencing testing in our tertiary center between 2019 and 2020.

Sotos syndrome: A study of antenatal presentation.

Objective: To determine the fetal ultrasound findings associated with Sotos syndrome caused by deletions at 5q35 including the NSD1 and a point mutation in this gene.

Study Design: This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory data were collected and reviewed for these cases.

Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing.

Russell-Silver syndrome (SRS) is a rare condition characterized by poor growth before and after birth along with multiple physical and psychosocial characteristics such as short stature, characteristic facial features, body asymmetry, feeding difficulties, and learning disabilities. In this study, we report a family with 2 recurrent SRS pregnancies due to a derivative chromosome 15 that is the result of a maternally derived t(11;15) translocation, detected by non-invasive prenatal testing (NIPT). The 2 SRS fetuses were diagnosed by chromosomal microarray analysis, but a balanced, reciprocal translocation of the mother was disclosed by the combination of routine karyotyping and FISH.

Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre.

The aim of this study was to present prenatal ultrasound findings, molecular testing results and pregnancy outcomes of cases with 22q11.2 deletion (del22q11.2) diagnosed prenatally.

Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.

Objective: To present the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS)/PAFAH1B1-related lissencephaly to further determine fetal phenotypes of this syndrome.

Study Design: This was a retrospective study of ten pregnancies with fetal MDS/PAFAH1B1-related lissencephaly identified by chromosomal microarray (CMA)/exome sequencing (ES). Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, CMA or ES results and pregnancy outcomes.

Fetal akinesia: The need for clinical vigilance in first trimester with decreased fetal movements.

Objective: We present two cases of fetal akinesia detected by first trimester ultrasound with noticing reduced fetal movements.

Case Report: Both of the two cases presented with reduced fetal movements. Fetal microarray results were normal.

[Research on network pharmacology of Acori Tatarinowii Rhizoma combined with Curcumae Radix in treating epilepsy].

The chemical constituents and action targets of Acori Tatarinowii Rhizoma and Curcumae Radix were screened by network pharmacological method,and the mechanism of the combination of Acori Tatarinowii Rhizoma and Curcumae Radix in the treatment of epilepsy was analyzed. All chemical constituents of Acori Tatarinowii Rhizoma and Curcumae Radix were retrieved by TCMSP,and their action targets were screened. Component target PPI network was constructed.

Chromosome microarray analysis in the investigation of children with congenital heart disease.

Background: Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).

Methods: A total of 104 children with CHD with or without multiple congenital anomalies (MCA) or intellectual disabilities/developmental delay (ID/DD) but normal karyotype were investigated using Affymetrix CytoScan HD array.

Result: Pathogenic copy number variations (PCNVs) were identified in 29 children (27.

Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects.

Objective: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical literature regarding prenatal diagnosis of SMS.

[Effect of the Runoff-sediment Control of the Xiaolangdi Reservoir on DOC Transport].

The sampling was carried out in Sanmenxia hydrological station, Xiaolangdi hydrological station and Huayuankou hydrological station from November 2011 to October 2012. The impact of the runoff-sediment control of the Xiaolangdi reservoir on DOC transport,was analyzed. The results were as follows.

Thalassemia Intermedia Caused by 16p13.3 Sectional Duplication in a β-Thalassemia Heterozygous Child.

Thalassemia intermedia is an inherited hemoglobin disorder characterized by a significant genetic and clinical heterogeneity. A wide spectrum of different genotypes-homozygous, heterozygous, and compound heterozygous-have been found to be responsible for it. The authors describe a Chinese child of β-thalassemia heterozygote with the mutation IVS2-654 (C→T) (HBB:c.

[Partial pressure of CO2 and CO2 degassing fluxes of Huayuankou and Xiaolangdi Station affected by Xiaolangdi Reservoir].

According to periodic sampling analysis per month in Xiaolangdi station and Huayuankou station from November 2011 to October 2012, combined with continuous sampling analysis of Xiaolangdi Reservoir during runoff and sediment control period in 2012, partial pressure of CO2 (pCO2) in surface water were calculated based on Henry's Law, pCO2 features and air-water CO2 degassing fluxes of Huayuankou station and Xiaolangdi station affected by Xiaolangdi Reservoir were studied. The results were listed as follows, when Xiaolangdi Reservoir operated normally, pCO2 in surface water of Xiaolangdi station and Huayuankou station varied from 82 to 195 Pa and from 99 to 228 Pa, moreover, pCO2 in surface water from July to September were distinctly higher than those in other months; meanwhile, pCO, in surface water from Huayuankou station were higher than that from Xiaolangdi station. During runoff and sediment control period of Xiaolangdi Reservoir, two hydrological stations commonly indicated that pCO2 in surface water during water draining were obviously lower than those during sediment releasing.

Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome.

We describe a new case of a β-thalassemia (β-thal) heterozygote with the mutation IVS-II-654 (C>T) presenting with a transfusion-dependent phenotype. Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (CGH) analyses of the α-globin gene cluster revealed a full duplication of the α-globin genes including the upstream regulatory element. The duplicated allele and the normal allele in trans resulted in a total of six active α-globin genes.

Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies.

Objective: The objective of this study was to characterize the genetic abnormalities in two fetuses with congenital anomalies in prenatal screening.

Materials And Methods: The mother of Fetus 1 was 26 years old and had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound and magnetic resonance imaging (MRI) at 28 weeks of gestation showed mild ventriculomegaly, microcephaly, and agenesis of the corpus callosum.

Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities.

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.

Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconductor sequencing platform (SSP), which relies on the MPS platform but offers advantages over existing noninvasive screening techniques.

A new hemoglobin variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C].

We have identified a new β chain hemoglobin (Hb) variant in a Chinese individual. Sequencing of the β-globin gene revealed a mutation in exon 2 at nucleotide 271, which results in the replacement of a glutamic acid by glutamine at codon 90 [β90(F6)Glu → Gln; GAG > CAG; HBB: c.271G > C] that we have named Hb Henan.

[Optimal extraction of puerarin from Pueraria lobata based on central composite design and response surface methodology].

Objective: To optimize the parameters of extraction technology for Puerarin from Pueraria lobata by Central Composite Design-Response Surface Methodology.

Methods: Used the ratio of dosage liquid and extraction time as the examination factor,the content of puerarin for the extraction percentage as the index. The multielement linear model and the polynomial model were used to describe the mathematics relation with response surface.

[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].

Objective: To identify potential mutations in a Chinese collodion baby.

Methods: The patient was investigated clinically. DNA was extracted from peripheral blood of the baby and his parents.

[Study on clinical effectiveness of acupuncture and moxibustion on acute Bell's facial paralysis: randomized controlled clinical observation].

Objective: To investigate the adverse effects of acupuncture on the prognosis, and effectiveness of acupuncture combined with far infrared ray in the patient of acute Bell's facial paralysis within 48 h.

Methods: Clinically randomized controlled trial was used, and the patients were divided into 3 groups: group A (early acupuncture group), group B (acupuncture combined with far infrared ray) and group C (acupuncture after 7 days). The facial nerve functional classification at the attack, 7 days after the attack and after treatment, the clinically cured rate of following-up of 6 months, and the average cured time, the cured time of complete facial paralysis were observed in the 3 groups.