A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α+-Thalassemia in two Chinese Patients.

We report a novel -α6.3 deletion and a rare -α27.6 deletion causing α+-thalassemia (α+-thal), in two Chinese patients. One patient was a 35-year-old Chinese man with a mild α+-thal phenotype [mean corpuscular volume (MCV) 83.6 fL] and the Hb A2 level (2.5%) was close to borderline of the normal range. Multiplex ligation-dependent probe amplification (MLPA) revealed a novel 6344 bp deletion involving the entire HBA1 gene. Mapping by gap-polymerase chain reaction (gap-PCR) defined the exact breakpoint of this deletion to be NG_000006.1: g.31022_37366del6344. It was unique relative to other forms of α-thalassemia (α-thal) reported in the literature, and was designated as -α6.3 deletion. The other patient, a 41-year-old woman had Hb H (ß4) disease [hemoglobin (Hb) level of 8.9 g/dL] with a compound heterozygosity for the - -SEA (NG_000006.1: g.26264_45564del19301) deletion. The MLPA and gap-PCR methodologies confirmed the breakpoint (NG_000006.1: g.9079_36718del27640) and identified it as the rare -α27.6 deletion.

The emerging role of exosomes in the development of testicular.

The mechanisms of testicular development in mammals are complex. Testis is an organ that produces sperm and secretes androgens. It is rich in exosomes and cytokines that mediate signal transduction between tubule germ cells and distal cells, promoting testicular development and spermatogenesis. Exosomes are nanoscale extracellular vesicles that transmit information between cells. By transmitting information, exosomes play an important role in male infertility diseases such as azoospermia, varicocele, and testicular torsion. However, due to the wide range of sources of exosomes, extraction methods are numerous and complex. Therefore, there are many difficulties in studying the mechanisms of exosomal effects on normal development and male infertility. Therefore, in this review, first, we introduce the formation of exosomes and methods for culturing testis and sperm. Then, we introduce the effects of exosomes on different stages of testicular development. Finally, we summarize the prospects and shortcomings of exosomes when used in clinical applications. We lay the theoretical foundation for the mechanism of the influence of exosomes on normal development and male infertility.

Covid-19 omicron variant infection in neonates of Guangdong province-a report of 52 cases.

Objective: To analyze the clinical characteristics of neonatal infection during the outbreak of COVID-19 omicron variant in Guangdong province of China. Method: The clinical data of neonates infected with COVID-19 omicron variant were collected from three hospitals of Guangdong province, their epidemiological history, clinical manifestation and prognosis were summarized. Results: From December 12, 2022 to January 15, 2023, a total of 52 neonates with COVID-19 infection were identified across three hospitals in Guangdong Province, including 34 males and 18 females. The age of diagnosis was 18.42 ± 6.32 days. 24 cases had clear contact history with adults who were suspected to be infected with COVID-19. The most common clinical manifestation was fever (43/52, 82.7%), the duration of fever was 1-8 days. The other clinical manifestations were cough (27/52, 51.9%), rales (21/52, 40.4%), nasal congestion (10/52, 19.2%), shortness of breath (2/52, 3.8%), and vomiting (4/52, 7.7%). C-reactive protein was only increased in 3 cases. Chest radiological examination was performed in 42 neonates, twenty-three cases showed abnormal chest radiographic findings, including ground-glass opacity and consolidation. Fifty cases were admitted with COVID-19 presentation, two cases were admitted for jaundice. The hospital stay was 6.59 ± 2.77 days. The clinical classification included 3 cases of severe COVID-19 and one critical case. Fifty-one cases were cured and discharged after general treatment, and one critical case with respiratory failure was intubated and transferred to another hospital. Conclusion: The COVID-19 omicron variant infection in neonates is usually mild. The clinical manifestation and laboratory results are not specific, and the short-term prognosis is good.

A Comparative Analysis of Methods for Titering Reovirus.

BACKGROUND: A key challenge in the process of virus amplification is the need for a simple and convenient method for measuring virus titers. OBJECTIVE: Real-time unlabeled cell analysis (RTCA) was used to establish a standard curve of correlation between half-cell index time (CIT50) and virus titer. At the same time, the virus titer from tunable resistance pulse detection (TRPS) technology was compared with the traditional median tissue culture infectious dose (TCID50) method to evaluate the feasibility and application value of the RTCA technique and TRPS technology. METHODS: Cell index (CI) values for L929 cells under different culture conditions were detected, and the appropriate initial cell inoculation density was screened. The half-cell index (CI50) values of reovirus infected L929 cells with TCID50 titers were analyzed by RTCA, the CI50-TCID50 standard curve was created, and a regression equation was developed. RTCA, TCID50, and TRPS methods were used to detect the reovirus titer obtained by the amplification, and the sensitivity and feasibility of the CIT50-TCID50 standard curve method were analyzed. The virus titer was detected by TRPS technology and the TCID50 method. RESULTS: L929 cells were best propagated at an initial density of 6 × 103 cells/well. After infecting L929 cells with different titers of reference reovirus, the linear correlation of CIT50 and TCID50 was y = -2.1806x + 71.023 (R2 = 0.9742). The titer resulting from the RTCA assay was 7×109.6821 pfu/mL, from the TRPS assay was 4.52×1010 pfu/mL, and from the TCID50 assay was 7×109.467 pfu/mL. CONCLUSION: The CIT50-TCID50 standard curve method established by the RTCA technique can be used to quantitatively detect reovirus titer with L929 cells. Compared with the TCID50 method, it takes a relatively short time and has high sensitivity and accuracy. The TRPS technology requires even less time to quantify the virus, but its precision is lower than that of the TCID50 method and RTCA technology. This study provides new technical methods for assessing the virulence of infectious live reovirus particles. Lay Summary: After amplification of the virus, we need to detect the virus titers (the virulence of the virus). The traditional method is to use the virus to infect cells, and then the virus titers can be calculated by 50% of the cells infected. However, this traditional method is time consuming. The ways of RTCA (a real-time cell analysis technique) and TRPS (a nano-bioparticle analysis technique) help us to detect viral titers. The consistency of these three methods determines their feasibility and accuracy. If they are feasible, then these two simple technologies will provide new ideas for detecting viral titers.

[Effects of carbon sources, temperature and electron acceptors on biological phosphorus removal].

Effects of carbon sources, temperature and electron acceptors on phosphorus uptake and release were investigated in a pilot-scale oxidation ditch. Phosphorus uptake and release rates were measured with different carbon sources (domestic sewage, sodium acetate, glucose) at 25 degrees C. The results showed that the minimum phosphorus uptake and release rates of glucose were 5.12 mg x (g x h)(-1) and 6.43 mg x (g x h)(-1), respectively, and those of domestic sewage are similar to those of sodium acetate. Phosphorus uptake and release rates increased with the increase of temperature (12, 16, 20 and 25 degrees C) using sodium acetate as carbon sources. Anoxic phosphorus uptake rate decreased with added COD. Electron acceptors (oxygen, nitrate, nitrite) had significant effects on phosphorus uptake rate and their order was in accordance with oxygen > nitrate > nitrite. The mass ratio of anoxic P uptake and N consumption (P(uptake)/N (consumption)) of nitrate and nitrite were 0.96 and 0.65, respectively.

Three cases of the hemoglobin G-Chinese variant detected in patients of southern Chinese origin.

Hemoglobin (Hb) G-Chinese [α30 (B11) Glu↷Gln], also known as Hb G-Honolulu, Hb G-Hongkong or Hb G-Singapore, was first identified in a Chinese woman in Singapore, and was subsequently observed in several Chinese families. This Hb variant results from a GAG↷CAG mutation at codon 30 of the α-globin gene. The aim of the present study was to identify the Hb G-Chinese mutation in three Cantonese individuals. The presence of the Hb variant was confirmed by cellulose acetate electrophoresis. DNA analysis based on the polymerase chain reaction (PCR) and sequencing were conducted to confirm the presence of the mutation in the α-globin gene. A G↷C substitution at codon 30 of the α2-globin gene was observed. According to a previous study, the G↷C substitution in Hb G-Chinese creates a PstI restriction site; we amplified the α2-globin gene, then digested the PCR products with PstI. The results indicated that only the PCR product of Hb G-Chinese α2-globin was cut by PstI. The digestive products were 120 and 730 bp, respectively. Therefore, we determined that the three cases were of the heterozygous Hb G-Chinese variant.