[Artificial intelligence fluorescence method versus traditional flow cytometry for detection of sperm DFI in oligospermia patients].

Objective: To explore the influence of oligospermia (OS) on the detection of sperm DNA fragmentation index (DFI) by fluorescence method based on artificial intelligence (AI) recognition and flow cytometry-based sperm chromatin structure assay (SCSA).

Methods: We collected semen samples from 201 males, including 50 azoospermia (AS) patients as negative controls, 90 OS patients (sperm concentration >0×10⁶/ml and <15×10⁶/ml), and 61 normal men (sperm concentration ≥15×10⁶/ml). Then we subdivided the OS patients into a mild OS (sperm concentration ≥10×10⁶/ml and <15×10⁶/ml), a moderate OS (sperm concentration ≥5×10⁶/ml and <10×10⁶/ml) and a severe/extremely severe OS group (sperm concentration >0×10⁶/ml and <5×10⁶/ml), with 30 cases in each group, and compared the results of DFI detection between the AI fluorescence method and traditional flow cytometry.

Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.

Objectives: We present prenatal diagnosis of Geleophysic dysplasia (GD) at 22 weeks gestation with prenatal ultrasound findings, molecular genetic analysis and postmortem examination.

Case Report: A 27-year-old primigravida was referred at 22 + 4 weeks gestation for detailed anomaly scanning due to routine ultrasound detection of short limbs. Chorionic villus sampling followed by family-based whole-exome sequencing identified two missense ADAMTSL2 variants, both classified as variants of uncertain significance.

Elevated Hb A is Not Always Indicative of β-Thalassemia.

Hb A levels are usually high in carriers of β-thalassemia (β-thal). These levels also provide a sensitive marker for the identification of hemoglobin (Hb) variants. In this study, we aimed to examine two patients from two Chinese families who showed elevated Hb A levels but did not show any signs of β-thal.

Discordance of cardiovascular abnormalities in a monozygotic twin pair carrying a class II 1q21.1 microdeletion.

Objective: We present the prenatal diagnosis of a class II 1q21.1 microdeletion in monozygotic (MZ) twins with discordant phenotypes.

Case Report: A monochorionic diamniotic twin pair presented with discordant ultrasound anomalies; twin A had cardiovascular abnormalities, while twin B did not.

Real-time artificial intelligence for detection of upper gastrointestinal cancer by endoscopy: a multicentre, case-control, diagnostic study.

Background: Upper gastrointestinal cancers (including oesophageal cancer and gastric cancer) are the most common cancers worldwide. Artificial intelligence platforms using deep learning algorithms have made remarkable progress in medical imaging but their application in upper gastrointestinal cancers has been limited. We aimed to develop and validate the Gastrointestinal Artificial Intelligence Diagnostic System (GRAIDS) for the diagnosis of upper gastrointestinal cancers through analysis of imaging data from clinical endoscopies.

A novel mutation in HAUS7 results in severe oligozoospermia in two brothers.

Severe oligozoospermia (SO) is a common disease resulting in male infertility; however, its pathophysiology remains unclear. Here, we report two brothers with SO. Whole-exome sequencing (WES) identified a hemizygous variant in HAUS7 (c.

Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.

Polycystic kidney disease (PKD) is a common inherited disease that is characterized by a progressive development of renal cysts. Approximately 85% of PKD cases are due to mutations in the polycystin 1 (PKD1) gene. Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD).

Rebuilding DEMATEL threshold value: an example of a food and beverage information system.

This study demonstrates how a decision-making trial and evaluation laboratory (DEMATEL) threshold value can be quickly and reasonably determined in the process of combining DEMATEL and decomposed theory of planned behavior (DTPB) models. Models are combined to identify the key factors of a complex problem. This paper presents a case study of a food and beverage information system as an example.

[Effect of Taohong Qinlian Decoction on HMGB1 in Septic Rat Cardiac Muscle].

Objective: To observe the levels of high mobility group box-1 protein (HMGB1), tumor necrosis factor-alpha (TNF-α), IL-6, troponin I (Tn I) release in septic rats, and to explore themechanism of Taohong Qinlian Decoction (TQD) in the treatment of septic myocardial injury.

Methods: A total of 48 healthy male Wistar rats of clean grade were randomly divided into the sham-operation group (Sham), the sepsis model group (CLP), and the TQD treatment group (ZY), 16 in each group. Concen-trations of TNF-α, IL-6, Tn I, and HMGB1 expression were detected in each group at 24 and 48 h after operation.

[Application of ICP-MS and ICP-AES for Studying on Source Apportionment of PM2.5 during Haze Weather in Urban Beijing].

To investigate the characteristics of chemical constitute and pollution sources of aerosol fine particulate matter during haze-fog day in Beijing in winter 2013. The samples of PM2.5 were collected in Beijing from January to February, 2013.

Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception.

Background: Conventional karyotyping has been a routine method to identify chromosome abnormalities in products of conception. However, this process is being transformed by single nucleotide polymorphism (SNP) array, which has advantages over karyotyping, including higher resolution and dispensing with cell culture. Therefore, the purpose of this study was to evaluate the advantage of high-resolution SNP array in identifying genetic aberrations in products of conception.

[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].

Objective: To identify potential mutation in a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome (ATR-X).

Methods: Based on clinical symptoms and inheritance pattern, linkage analysis of X chromosome short tandem repeats (X-STR) loci was carried out to locate the candidate gene. Subsequently, sequences of exons and exon-intron boundaries of the candidate gene were amplified with polymerase chain reaction (PCR).

[Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations].

Objective: To perform spectral karyotyping (SKY), fluorescence in situ hybridization (FISH) and conventional karyotyping on prenatally detected marker chromosomes and complex chromosomal aberrations.

Methods: Five marker chromosomes and 2 complex chromosome aberrations diagnosed by G banding were collected. SKY was performed to verify the composition of marker chromosomes.

[Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation].

Objective: Comprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation.

Methods: Following conventional chromosome preparation, G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were performed.

Results: G-banded karyotype was 46, XX, ?(22q11.

[Determination of trace elements Be, Cd, as and Pb in air of residential areas by inductively coupled plasma-mass spectrometry coupled with ultrasonic leaching].

In the present paper, the method for determining the trace elements Be, Cd, As and Pb in air of residential areas by inductively coupled plasma-mass spectrometry was established. Ultrasonic leaching procedures were applied to extract the trace elements from the filter membrane of the atmospheric particulates. The operating condition of the instrument was optimized.

[Determination of volatile organic compounds in drinking water by purge and trap gas chromatography/mass spectrometry].

Objective: To establish a method for determination of volatile organic compounds in drinking water by purge and trap GC/MS.

Methods: Volatile organic compounds in water were purged and trapped by Tekmar 3100, then desorbed and analyzed by GC/MS. Selective ion masses were used in quantitative measurement.

Health safety of main water pipe materials supplied in China market.

Objective: To assess the health safety of copper, steel and plastic water pipes by field water quality investigations.

Methods: Four consumers were randomly selected for each type of water pipes. Two consumers of every type of the water pipes had used the water pipes for more than 1 year and the other 2 consumers had used the water pipes for less than 3 months.

[Identification and quantitation of selenocompounds in environment and organism].

Identify and quantify of diversity of selenocompounds in environment and organism is necessary to further understand and fairly evaluate the effects of selenium in clinical chemistry, nutrition, toxicity, environment and ecology. For the purpose, many state-of-the-art of analytical techniques are applied with the particular emphasis on the effective isolation, high-sensitively element-selective detection and the identification of the detected selenocompounds. Some practical and recently-developed methods, especially Se speciation by the combination of chromatography with mass spectrography, are here reviewed, which is of benefit to the deep researches on the selenium species in environmental samples and biomaterials.