Publications by authors named "Biyan Chen"

Article Synopsis
  • The study examines the trends in congenital heart defects (CHDs) among perinatal infants in Guangxi, China, from 2016 to 2020, using data from over 3.6 million infants monitored by the Guangxi Birth Defects Monitoring Network.
  • A total of 10,817 cases of CHDs were identified, resulting in a prevalence rate of 29.82 per 10,000 perinatal infants, with CHDs making up 24.50% of all birth defects.
  • Significant increases in CHD prevalence were observed over the study period, particularly correlating with maternal age, which had a notable influence on the rising rates.
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  • Mutations in the WD repeat structural domain 26 gene are linked to Skraban-Deardorff syndrome, a genetic disorder causing intellectual and developmental challenges, hypotonia, epilepsy, and distinctive facial features.
  • This study analyzed two Chinese patients with the syndrome using whole-exome sequencing to identify novel pathogenic variants in the gene, confirming them through Sanger sequencing.
  • The findings reveal clinical diversity among patients, including new severe behavioral complications in one case, and emphasize that symptoms may worsen with age.
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Objective: To investigate the genotype, mutation type, and ethnic distribution characteristics of thalassemia in the population of Hechi area, Guangxi, and to provide a reference basis for prevention and control of thalassemia and eugenic counseling in the region.

Methods: Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) were used for genetic testing on suspected thalassemia persons, and the results were analyzed.

Results: Among 29 136 samples, a total of 17 016 (58.

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Article Synopsis
  • - Kleefstra syndrome (KLEFS) is a rare neurodevelopmental disorder with symptoms like intellectual disability, language and motor delays, and distinctive facial features, divided into two subtypes (KLEFS1 and KLEFS2) based on genetic causes.
  • - This study identified five unrelated Chinese patients with KLEFS2, each showing different genetic variants in a specific gene linked to the disorder, all exhibiting similar clinical profiles.
  • - The research found a broad range of associated phenotypes in KLEFS2 patients, including intellectual disability and behavioral issues, and highlighted that factors like sex may influence the severity of these symptoms, contributing to a better understanding of the disorder's genetic and phenotypic diversity. *
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Objective: To investigate the detection rate and hematologic phenotype of thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region.

Methods: Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed.

Results: A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.

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  • The study aimed to analyze thalassemia gene mutations in childbearing age individuals in the Chongzuo area of Guangxi, identifying various gene mutations using specific genetic testing methods.
  • Out of 29,266 cases tested, 65.36% were identified with thalassemia, with α-thalassemia being the most prevalent at 45.25%, followed by β-thalassemia at 15.47%.
  • The research found different genotypes and mutation rates, revealing specific dominant gene mutations and their relation to anemia severity in detected cases.
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Article Synopsis
  • The study analyzed birth defects (BDs) among perinatal infants in Guangxi, China, from 2016 to 2020, identifying various risk factors and trends in prevalence.
  • A total of 44,146 cases were monitored, revealing an overall birth defect prevalence of 121.71 per 10,000, with congenital heart defects (CHDs) showing the most significant increase.
  • Key risk factors associated with higher BDs included older maternal age, higher education levels, and diabetes; negative correlations were found with a family history of stillbirth and previous BDs.*
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Background: Homozygous or compound heterozygous ROBO3 gene mutations cause horizontal gaze palsy with progressive scoliosis (HGPPS). This is an autosomal recessive disorder that is characterized by congenital absence or severe restriction of horizontal gaze and progressive scoliosis. To date, almost 100 patients with HGPPS have been reported and 55 ROBO3 mutations have been identified.

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Steam-processed Polygonatum sibiricum (PS) has been used as food for thousands of years. However, fewer studies concentrated on the effects of polysaccharides (SPSP) from the steamed PS on the intestinal tract. With fermentation in vitro, we investigated the impact of SPSP on the fatty acids and microbiotas.

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Aims: Hb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia.

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Background: Erythrocyte parameter analysis is the important means for diagnosis and treatment of hematological diseases, which are essential for screening of thalassemia in southern China combined with hemoglobin electrophoresis analysis. But little is known regarding the reference intervals (RIs) in healthy pediatrics in these two areas.

Methods: 95% RIs of erythrocyte parameters were calculated from 853 healthy preschoolers, aged from 1 days to <6 years, according to the C28-A3C guidelines of the Institute of Clinical and Laboratory Standards.

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Coffin-Siris syndrome (CSS) is a neurodevelopmental disorder characterized by cognitive disability, coarse facial features, hypertrichosis, and somatic dysmorphic features. It is caused by mutations in the BAF-complex or SOX gene. Here, a Chinese woman presenting with neurodevelopmental delay, mild intellectual disability, speech delay, dysmorphic features, obesity, scoliosis, hypotonia, seizures, skin problems, hypokalemia, and endocrine dysfunction is described.

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Thalassemia is one of the most common genetic diseases in southern China. Howerver, population in different regions or different population has their own spectrums of thalassemia. To investigate the prevalence and spectrum features of thalassemia among children in Guangxi.

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Partially aggregated Rhodamine 6G (R6G) dye is used as a lights-on temperature sensor to analyze the spatiotemporal heating of aluminum nanoparticles (Al NPs) embedded within a tetrafluoroethylene, hexafluoropropylene, and vinylidene fluoride (THV) fluoropolymer matrix. The embedded Al NPs were photothermally heated using an IR laser, and the fluorescent intensity of the embedded dye was monitored in real time using an optical microscope. A plasmonic grating substrate enhanced the florescence intensity of the dye while increasing the optical resolution and heating rate of Al NPs.

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Advanced Himawari imager (AHI) carried on the new-generation geostationary meteorological Himawari-8 satellite of Japan has been generating aerosol observations with a high temporal resolution since 7 July 2015. However, the previous studies lack a comprehensive quality assessment and spatial coverage analysis of AHI hourly aerosol products (level 3 version 3.0) across the full disk scan.

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In this study, we performed a spinal muscular atrophy carrier screening investigation with NGS-based method. First, the validation for NGS-based method was implemented in 2255 samples using real-time PCR. The concordance between the NGS-based method and real-time PCR for the detection of SMA carrier and patient were up to 100%.

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Article Synopsis
  • Thalassemia is the most prevalent genetic disorder globally, where identifying mutations is crucial for proper diagnosis and management.
  • Standard tests often miss rare mutations, creating challenges for clinical labs in accurately diagnosing patients.
  • A case study revealed a novel 71.8kb deletion affecting crucial genes responsible for α-thalassemia, leading to a proposed procedure for better identifying unusual mutations in thalassemia patients.
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Non-immune hydrops fetalis (NIHF) is a complex condition with a high mortality and morbidity rate. Here we report the etiology and outcome of 1004 fetuses with NIHF, in a large single Maternal and Children's hospital of Southern China, since the year of 2009 to 2016. Among these 1004 fetuses with NIHF, the etiology was identified prenatally in 722 of them (72%).

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Hemoglobinopathies are the most common monogenic disorders worldwide. Substantial effort has been made to establish databases to record complete mutation spectra causing or modifying this group of diseases. We present a variant database which couples an online auxiliary diagnosis and at-risk assessment system for hemoglobinopathies (DASH).

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The technique of combining multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (CGH) and gap-polymerase chain reaction (gap-PCR) is an effective way to locate unknown breakpoints on the α-globin genes. In the current report, a novel deletion was detected in two pregnant women with moderate hematological phenotypes. Multiplex ligation-dependent probe amplification and array CGH revealed a probable 9.

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β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders worldwide. It is caused mainly by point mutations or, more rarely, deletions on the β-globin gene, leading to reduced (β) or absent (β) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population.

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Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim of this study was to assess the potential value of ECS for clinical application in Southern China, a region with high prevalence of thalassemia and with diverse ethnic groups, and to provide a reference for future implementations in areas with similar population characteristics. A total of 10,476 prenatal/preconception couples from 34 self-reported ethnic groups were simultaneously tested and analyzed anonymously for 11 Mendelian disorders using targeted next-generation sequencing.

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In situ dynamic temperature mapping of photothermally heated aluminum nanoparticles (Al NPs) embedded in a fluoropolymer (THV) is achieved using fluorescent dye (rhodamine 6G). A plasmonic grating substrate enhances the dye fluorescence intensity by a factor of seven over a glass substrate, to enable image capture rates of 500 frames per second. Further, the fluorescence intensity is linearly related to temperature and reversible.

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The geomagnetic storm, which is an abnormal space weather phenomenon, can sometimes severely affect GPS signal propagation, thereby impacting the performance of GPS precise point positioning (PPP). However, the investigation of GPS PPP accuracy over the global scale under different geomagnetic storm conditions is very limited. This paper for the first time presents the performance of GPS dual-frequency (DF) and single-frequency (SF) PPP under moderate, intense, and super storms conditions during solar cycle 24 using a large data set collected from about 500 international GNSS services (IGS) stations.

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Hb Bart's hydrops fetalis is the most severe and generally fatal clinical phenotype of α-thalassemia (α-thal), which is due to the deletion of all four functional α-globin genes of hemoglobin (Hb), resulting in no α-globin chain production (- -/- -). Homozygosity for the - - (Southeast Asian) α-globin gene deletion is the main cause of the Hb Bart's hydrops fetalis in Asia, especially South China. Occasionally, other α-thal deletions can also be found.

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