[Analysis of Thalassemia Gene Mutation Types and Ethnic Distribution Characteristics in Hechi Area, Guangxi].

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.

[Analysis of Genotype and Hematological Characteristics in South Guangxi].

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.

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.

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.

Positive effects of steamed Polygonatum sibiricum polysaccharides including a glucofructan on fatty acids and intestinal microflora.

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.

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family.

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.

Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.

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.

De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.

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.

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China.

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.

Surface Plasmon Enhanced Fluorescence Temperature Mapping of Aluminum Nanoparticle Heated by Laser.

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.

Comparison of hourly aerosol retrievals from JAXA Himawari/AHI in version 3.0 and a simple customized method.

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.

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.

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%.

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases.

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%).

LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.

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).

Identification of a Novel 9.7 kb Deletion Causing α-Thalassemia in Two Pregnant Women in Southern China.

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.

First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family.

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.

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

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.

Enhanced fluorescence for in situ temperature mapping of photothermally heated aluminum nanoparticles enabled by a plasmonic grating substrate.

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.

Assessing the Performance of GPS Precise Point Positioning Under Different Geomagnetic Storm Conditions during Solar Cycle 24.

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.

Characterization of Hb Bart's Hydrops Fetalis Caused by - - and a Large Novel α-Thalassemia Deletion.

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.