Disorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A.

Studies of laminopathy-based progeria offer insights into aging-associated diseases and highlight the role of LMNA in chromatin organization. Mandibuloacral dysplasia type A (MAD) is a largely unexplored form of atypical progeria that lacks lamin A post-translational processing defects. Using iPSCs derived from a male MAD patient carrying homozygous LMNA p.

Rapamycin prevents lung injury related to acute spinal cord injury in rats.

Severe injury occurs in the lung after acute spinal cord injury (ASCI) and autophagy is inhibited. However, rapamycin-activated autophagy's role and mechanism in lung injury development after ASCI is unknown. Preventing lung injury after ASCI by regulating autophagy is currently a valuable and unknown area.

Clinical and immunological features of an APLAID patient caused by a novel mutation in .

Background: The APLAID syndrome is a rare primary immunodeficiency caused by gain-of-function mutations in the gene. We present a 7-year-old APLAID patient who has recurrent blistering skin lesions, skin infections in the perineum, a rectal perineal fistula, and inflammatory bowel disease.

Methods: To determine the genetic cause of our patient, WES and bioinformatics analysis were performed.

Pathogenesis of bronchopulmonary dysplasia in preterm neonates revealed by an RNA sequencing interaction network analysis.

Background: The chronic lung condition known as bronchopulmonary dysplasia (BPD), which primarily affects newborns, especially preterm neonates, is brought on by prolonged oxygen consumption and mechanical ventilation. This case-control study sought to investigate the pathogenesis of BPD in preterm neonates by RNA sequencing (RNA-seq).

Methods: First, RNA-seq samples were collected from 3 BPD and 3 healthy preterm neonates.

Alagille syndrome due to a 2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report.

Introduction: Here, we report the case of an infant suffering from Alagille syndrome (ALGS), manifesting with the atypical clinical manifestations of prenatal oligohydramnios and renal lesions. To the best of our knowledge, this is the first case of ALGS presenting as prenatal oligohydramnios and renal lesions caused by a variant of the 2 gene.

Case Presentation: A 3-month-old male infant was hospitalized for severe malnutrition.

Case Report: A Novel Intronic Mutation in Associated With Fatal Encephalomyopathy and Mitochondrial Disease in Infant.

Background: The gene is located on chromosome Xq26.1 and encodes a flavoprotein essential for nuclear disassembly in apoptotic cells. Mutations in this gene can cause variable clinical phenotypes, but genotype-phenotype correlations of -related disorder have not yet been fully determined because of the clinical scarcity.

Raised SPINK1 levels play a role in angiogenesis and the transendothelial migration of ALL cells.

The present study was designed to assess whether raised Serine protease inhibitor Kazal type 1 (SPINK1) expressions modulates angiogenesis. Human umbilical vein endothelial cells (HUVECs) exposed to SPINK1 were noted to exhibit raised expressions of interleukin-8 (IL-8) as well as VCAM-1 and ICAM-1 cell adhesion molecules in a dose-dependent manner. In co-culture system of HUVECs and Acute lymphoblastic leukemia (ALL) cells, SPINK1 exposure also resulted in enhanced endothelial cell motility and ALL cells trans-endothelial migration.

BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene.

Background: Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is a rare autosomal recessive neurological disorder caused by mutations in the SLC52A2 gene, which is characterized by early childhood onset of sensorineural hearing loss, bulbar palsy, peripheral neuropathy, and respiratory insufficiency. We aimed to investigate the genetic cause of a 4-year-old boy who suffered from BVVLS2 whose initial presentation was severe normocytic anemia and had been overlooked for three years in a local hospital. He was misdiagnosed with pure red cell aplasia (PRCA) and treated with hormones and chemotherapy drugs, but there was no obvious effect.

BCL-xL is correlated with disease severity in neonatal infants with early sepsis.

Background: Sepsis is the most common cause of morbidity and mortality in neonatal infants. It is essential to find an accurate and sensitive biomarker to confirm and treat neonatal sepsis in order to decrease the rate of mortality. The aim of this study was to investigate the association between disease severity in patients with sepsis and TNF-α, B cell lymphoma-extra-large (BCL-xL), and serum Mitochondrial membrane potential (MMP).

[Preparation of pan-neutralizing mouse monoclonal antibodies against enterovirus 71 and coxsackievirus A16].

Objective To prepare a neutralizing monoclonal antibody (mAb) that can simultaneously block enterovirus 71 (EV71) and coxsackievirus A16 (CV-A16) infections. Methods BALB/c mice were immunized with 163-177 amino acids (SP55) of the C-terminal of EV71 virion particle 1 (VP1) protein, and the mAbs were prepared by hybridoma technology. Neutralization antigenic epitope SP55 of EV71 and the highly homologous CV-A16 VP1 protein C-terminal 163-177 amino acids (PEP55) were applied to detect the mAbs that cross-reacted with EV71 and CV-A16 at the same time, and an in vitro neutralization test was conducted to detect the neutralization effect of EV71 and CV-A16, and to analyze the biological characteristics of the mAb.

A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome.

Aims: Van der Woude syndrome (VWS) is one of the most common craniofacial anomalies, causing significant functional and psychological burden to the patients. This study aimed to identify the genetic cause of VWS in a Chinese family.

Methods: Whole genome sequencing (WGS) was performed to screen for pathogenic mutations.

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.

Objective: The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result.

Methods: Genomic DNA from the proband and his parents were extracted from 200 to 400 μl of peripheral blood samples. A 4000 pathgenic genes diagnostic screening panel developed by our laboratory group was used for gene mutation screening.

Cardiomyocyte-specific deletion of Senp2 contributes to CVB3 viral replication and inflammation.

Viral myocarditis (VMC) is characterized by cardiac inflammation and excessive inflammatory responses after viral infection. SENP2, a deSUMO-specific protease, has been reported to regulate antiviral innate immunity. This study aimed to investigate whether SENP2 affects CVB3-induced VMC.

A targeted gene capture next-generation sequencing panel for genetic screening of newborns.

Objective: The application of next-generation sequencing (NGS) will greatly promote the screening and diagnosis of genetic diseases. This study aimed to implement and validate a targeted NGS panel for genetic screening of over fifty types of genetic disorders in newborns.

Methods: A targeted gene panel consisting of 104 known genes related to genetic diseases with a target size of 347.

Molecular epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China.

Background: Thalassemia is a common inherited hematological disease in tropical and subtropical regions. This study aimed to investigate the mutation spectrum of thalassemia in the Dongguan region of southern China and comprehensively analyze hematologic features of thalassemia carriers with various types of globin mutations.

Methods: A hematological screening including hematological indices such as mean corpuscular volume (MCV), mean corpuscular hemoglobin content (MCH), and mean corpuscular hemoglobin concentration (MCHC) was conducted in 19 442 people from Dongguan region, Guangdong province of China.

[Expression of long non-coding RNA linc00467 in childhood acute myeloid leukemia and its role in drug resistance].

Objective: To study the expression and function of long non-coding RNA linc00467 in childhood acute myeloid leukemia (AML).

Methods: Bone marrow samples were collected from 5 children with AML who were diagnosed from May 2016 to June 2018. Normal bone marrow samples based on bone marrow examination were collected from 3 children as controls.

A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.

Background: Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and multiple anomalies caused by haploinsufficiency of the ZEB2 gene. We investigated the genetic causes of MWS in a 14-year-old girl who had characteristic features of MWS.

Methods: Clinical data and peripheral blood DNA samples were collected from the proband.

Identification of pathogenic variants of ERLEC1 in individuals with Class III malocclusion by exome sequencing.

Class III malocclusion is a common dentofacial deformity. The underlying genetic alteration is largely unclear. In this study, we sought to determine the genetic etiology for Class III malocclusion.

A molecular-beacon-based asymmetric PCR assay for detecting polymorphisms related to folate metabolism.

Background: Polymorphisms (rs1801133 or C677T; rs1801131 or A1298C) of the MTHFR gene and rs1801394 (A66G) of the MTRR gene are important genetic determinants of folate metabolism. A convenient, sensitive, and reliable method is required to detect polymorphisms for the precise supplementation of folate.

Methods: A rapid detection method based on molecular beacon probes that can detect rs1801133, rs1801131, and rs1801394 simultaneously was developed in this study.

A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.

Background: Due to inconsistencies with reported myofibrillar myopathy (MFM), including autosomal dominant inheritance, late onset and a slowly progressive course, the severe, recessively inherited form of CRYAB (alpha-B crystallin) gene-related infantile MFM has been suggested. Here, we report an infant in a Chinese family with fatal neonatal-onset hypertonic MFM with a novel CRYAB homozygous variant (c.3G > A (p.

A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family.

Background: Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important causes of mitochondrial disorders. VARS2 is one of the genes encoding aminoacyl-tRNA synthetases. Recently, an increasing number of pathogenic variants of VARS2 have been reported.

Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly.

Background: Polydactyly is one of the most common congenital limb abnormalities. Our objective was to identify the genetic causes of non-syndromic polydactyly in 78 Chinese children.

Materials And Methods: Genomic DNA was isolated from 78 independent nonsyndromic polydactyly patients, of whom 71 had preaxial polydactyly (PPD), six had postaxial polydactyly (PAP), and one showed combined PPD1 and PAP-A/B.

A tetravalent vaccine comprising hexon-chimeric adenoviruses elicits balanced protective immunity against human adenovirus types 3, 7, 14 and 55.

Human adenovirus (Ad) species B contains several of the most important types associated with acute respiratory diseases, Ad3, -7, -14 and -55, which often lead to severe lower respiratory tract diseases and epidemic outbreaks. However, there is currently no Ad vaccine approved for general use. The major capsid protein, hexon, is the primary determinant recognized by neutralizing antibodies (NAbs).