Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.

Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked hereditary disorder in southern China. However, the incidence rate of G6PD deficiency and the frequency of the most common gene variants vary widely. The purpose of this study was to investigate the prevalence, genotype, and phenotypic features of G6PD deficiency in neonates in Fujian province, southeastern China.

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.

Background: Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its prevalence and SLC22A5 gene mutation spectrum varying across races and regions. This study aimed to systematically analyze the incidence of PCD in China and delineate regional differences in the prevalence of PCD and SLC22A5 gene variants.

Methods: PubMed, Embase, Web of Science, and Chinese databases were searched up to November 2023.

Clinical efficacy and safety of robotic retroperitoneal lymph node dissection for testicular cancer: a systematic review and meta-analysis.

Background: Retroperitoneal lymph node dissection (RPLND) is an effective treatment for testicular tumors. In recent years, with the development of robotics, many urological procedures performed via standard laparoscopy have been replaced by robots. Our objective was to compare the safety and efficacy of robotic retroperitoneal lymph node dissection (R-RPLND) versus Non-robotic retroperitoneal lymph node dissection (NR-RPLND) in testicular cancer.

Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry.

This study was designed to screen 6 lysosomal storage diseases (LSDs) in neonates using tandem mass spectrometry (MS/MS), and establish cutoff values for these LSDs with 3000 dried blood spots (DBS) samples. Cutoff values for α-L-iduronidase (IDUA), α-galactosidase (GLA), acid beta glucosidase (ABG), β-galactocerebrosidase (GALC), acid sphingomyelinase (ASM), and acid alpha glucosidase (GAA) were as follows: GLA, > 2.06 μmol/L·h; ABG, > 1.

Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.

The estimated prevalence of tetrahydrobiopterin deficiency (BH4D) and the mutational spectrum of the causal 6-pyruvoyl-tetrahydropterin synthase () gene vary widely according to race and region. This study assessed the prevalence and genetic characteristics of BH4D in Fujian Province, southeastern China. A total of 3,204,067 newborns were screened between 2012 and 2022 based on the phenylalanine level and the phenylalanine/tyrosine ratio in dried blood spots.

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.

Background: Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). The estimated prevalence of GA1 and the mutational spectrum of the GCDH gene vary widely according to race and region. The aim of this study was to assess the acylcarnitine profiles and genetic characteristics of patients with GA1 in Fujian Province, southeastern China.

Sperm telomere length as a novel biomarker of male infertility and embryonic development: A systematic review and meta-analysis.

Background: Telomeres have an essential role in maintaining the integrity and stability of the human chromosomal genome and preserving essential DNA biological functions. Several articles have been published on the association of STL with male semen parameters and clinical pregnancy. The results, however, are either inconclusive or inconsistent.

[Behavioral and physiological responses to hypoxia stress in male and female ].

To explore the physiological and behavioral responses of male and female under hypoxia stress, an experiment with three dissolved oxygen (DO) levels (6.46, 4.48 and 3.

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Background: Phenylalanine hydroxylase deficiency (PAHD) is the most prevalent inherited disorder of amino acid metabolism in China. Its complex phenotype includes many variants and genotypes among different populations.

Methods And Results: In this study, we analyzed the phenylalanine hydroxylase gene (PAH) variants in a cohort of 93 PAHD patients from Fujian Province.

Molecular and functional characterization of MST2 in grass carp during bacterial infection.

The regulation of host redox homeostasis is critically important in the immune response to pathogens. The "mammalian sterile 20-like" kinase 2 (MST2) has been shown to play a role in apoptosis, cell proliferation, and cancer; however, few studies have examined its ability to modulate redox homeostasis during innate immunity, especially in teleost fish. In this study, we cloned the MST2 gene of Ctenopharyngodon idella (CiMST2) and analyzed its tissue distribution.

Introgressing the Aegilops tauschii genome into wheat as a basis for cereal improvement.

Increasing crop production is necessary to feed the world's expanding population, and crop breeders often utilize genetic variations to improve crop yield and quality. However, the narrow diversity of the wheat D genome seriously restricts its selective breeding. A practical solution is to exploit the genomic variations of Aegilops tauschii via introgression.

Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.

Propionic acidemia is associated with pathogenic variants in PCCA or PCCB gene. We investigated the potential pathogenic variants in PCCA or PCCB genes in Fujian Han population.Two probands and their families of Han ethnicity containing two generations were subject to newborn screening using tandem mass spectrometry, followed by diagnosis using urine gas chromatography mass spectrometry.

Interaction between carbon cycling and phytoplankton community succession in hydropower reservoirs: Evidence from stable carbon isotope analysis.

Carbon (C) cycling and phytoplankton community succession are very important for hydropower reservoir ecosystems; however, whether the former controls the latter or the reverse is still debated. To understand this process, we investigated phytoplankton species compositions, stable C isotope compositions of dissolved inorganic C and particulate organic C (δC-DIC and δC-POC), and related environmental factors in seven hydropower reservoirs on the Wujiang River, Southwest China. A total of 36 algal genera from seven phyla were identified, and phytoplankton community exhibited obvious temporal and spatial difference.

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.

Background: Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland. In this study, we aim to analyze the gene mutation spectrum of PCD in Fujian Province in China mainland.

Methods: Primary carnitine deficiency (PCD) samples used in this study were selected from 95,453 cases underwent neonatal screening between May 2015 and February 2020.

Effect of constant and fluctuating temperature on the circadian foraging rhythm of the red imported fire ant, Buren (Hymenoptera: Formicidae).

Understanding circadian foraging rhythms activity of the red imported fire ant, Buren (Hymenoptera: Formicidae) foragers at different temperatures is an important step towards developing control measures in Integrated Pest Management (IPM) programs. In this study, the circadian foraging rhythm activities of foragersat different temperature were investigated under laboratory and field conditions. Results indicated that the foraging activity increased after sunrise, and maximum foraging occurred at 14:00 (foraging rate was 69.

Effects of oligochitosan on the growth, immune responses and gut microbes of tilapia (Oreochromis niloticus).

The immunomodulatory effects of oligochitosan have been demonstrated in several fish. However, the underlying mechanisms are not well characterized. The profound interplay between gut microbes and aquaculture has received much scientific attention but understanding the alternations of microbes populating in gut of tilapia (Oreochromis niloticus) fed with oligochitosan remains enigmatic.

Perinatal risk factors for congenital hypothyroidism: A retrospective cohort study performed at a tertiary hospital in China.

Congenital hypothyroidism (CH) is one of the most common neonatal endocrine diseases. This retrospective cohort study aimed to identify the potential perinatal risk factors for CH and to differentiate between transient and permanent CH (TCH and PCH, respectively) as well as determine their prevalence in a southeastern Chinese population.This study was based on an 18-year surveillance of a neonatal CH screening program in a large tertiary hospital.

Fine Mapping a Broad-Spectrum Powdery Mildew Resistance Gene in Chinese Landrace Datoumai, , and Its Relationship with .

Powdery mildew, caused by the biotrophic fungal pathogen f. sp. (), is a globally important wheat disease causing severe yield losses, and deployment of resistant varieties is the preferred choice for managing this disease.

A verification of the application of the non-derivatized mass spectrometry method in newborns screening of metabolic disorders.

It is required that the clinical screening of metabolic disorders in newborns meet International Organization for Standardization 15189-2012 approval. The new tandem mass spectrometry (MS/MS) based screening system and its companion reagent should be independently authenticated before their implementation in clinical diagnosis laboratories.Linearity, stability, accuracy, and precision evaluations were carried out to verify the performance of the Waters ACQUITY TQD MS/MS system with the NeoBase non-derivatized MS/MS PerkinElmer kit for detecting amino acids and acylcarnitine in newborns with metabolic disorders.

Association between genetic polymorphism of heme oxygenase 1 promoter and neonatal hyperbilirubinemia: a meta-analysis.

The association between a (GT) dinucleotide length polymorphism in the promoter region of heme oxygenase 1 (HMOX1) and the risk of neonatal hyperbilirubinemia remains controversial. This meta-analysis was, therefore, performed with aims to examine the correlation between the (GT) repeat length polymorphism and neonatal hyperbilirubinemia susceptibility. We searched the databases including PubMed, Embase, Cochrane Library, China national knowledge infrastructure (CNKI), and Wanfang Data, with all reviewed studies published before 28 June 2018.

Microfluidic filter device with nylon mesh membranes efficiently dissociates cell aggregates and digested tissue into single cells.

Tissues are increasingly being analyzed at the single cell level in order to characterize cellular diversity and identify rare cell types. Single cell analysis efforts are greatly limited, however, by the need to first break down tissues into single cell suspensions. Current dissociation methods are inefficient, leaving a significant portion of the tissue as aggregates that are filtered away or left to confound results.

Microfluidic channel optimization to improve hydrodynamic dissociation of cell aggregates and tissue.

Maximizing the speed and efficiency at which single cells can be liberated from tissues would dramatically advance cell-based diagnostics and therapies. Conventional methods involve numerous manual processing steps and long enzymatic digestion times, yet are still inefficient. In previous work, we developed a microfluidic device with a network of branching channels to improve the dissociation of cell aggregates into single cells.

Microfluidic device for rapid digestion of tissues into cellular suspensions.

The ability to harvest single cells from tissues is currently a bottleneck for cell-based diagnostic technologies, and remains crucial in the fields of tissue engineering and regenerative medicine. Tissues are typically broken down using proteolytic digestion and various mechanical treatments, but success has been limited due to long processing times, low yield, and high manual labor burden. Here, we present a novel microfluidic device that utilizes precision fluid flows to improve the speed and efficiency of tissue digestion.

Phenotypic Analysis of Stromal Vascular Fraction after Mechanical Shear Reveals Stress-Induced Progenitor Populations.

Background: Optimization of fat grafting continues to gain increasing attention in the field of regenerative medicine. "Nanofat grafting" implements mechanical emulsification and injection of standard lipoaspirate for the correction of superficial rhytides and skin discoloration; however, little is known about the cellular constituents of the graft. Based on recent evidence that various stressors can induce progenitor activity, the authors hypothesized that the shear forces used in common fat grafting techniques may impact their regenerative capacities.