Hepatolenticular degeneration is an autosomal recessive genetic disease caused by mutations in the ATP7B gene. More than 800 mutations have been identified in the ATP7B gene so far, with significant ...differences in clinical phenotypes among different mutation sites. Totally different clinical phenotypic mutations can even exist in the same gene. Although copper accumulation due to gene mutation is the basis of the pathogenesis of hepatolenticular degeneration, more and more evidence demonstrates that it is difficult to explain the diversity of clinical manifestations solely from the perspective of gene mutation. Therefore, this article reviews the research progress on the factors influencing genotype, modifier genes, epigenetics, age, gender, diet, and other factors on the phenotype of patients with hepatolenticular degeneration.
Cell death was examined by studying the spinal cords of rats subjected to traumatic insults of mild to moderate severity. Within minutes after mild weight drop impact (a 10 gm weight falling 6.25 ...mm), neurons in the immediate impact area showed a loss of cytoplasmic Nissl substances. Over the next 7 d, this lesion area expanded and cavitated. Terminal deoxynucleotidyl transferase (TdT)-mediated deoxyuridine triphosphate-biotin nick end labeling (TUNEL)-positive neurons were noted primarily restricted to the gross lesion area 4-24 hr after injury, with a maximum presence at 8 hr after injury. TUNEL-positive glia were present at all stages studied between 4 hr and 14 d, with a maximum presence within the lesion area 24 hr after injury. However 7 d after injury, a second wave of TUNEL-positive glial cells was noted in the white matter peripheral to the lesion and extending at least several millimeters away from the lesion center. The suggestion of apoptosis was supported by electron microscopy, as well as by nuclear staining with Hoechst 33342 dye, and by examination of DNA prepared from the lesion site. Furthermore, repeated intraperitoneal injections of cycloheximide, beginning immediately after a 12.5 mm weight drop insult, produced a substantial reduction in histological evidence of cord damage and in motor dysfunction assessed 4 weeks later. Present data support the hypothesis that apoptosis dependent on active protein synthesis contributes to the neuronal and glial cell death, as well as to the neurological dysfunction, induced by mild-to-moderate severity traumatic insults to the rat spinal cord.
Large surface area burns with concurrent severe burn sepsis are a rare phenomenon, particularly when the wounds are closed in a short timeframe.
This study describes a 5-year-old patient with 93% ...total body surface area (TBSA) burns and severe burn sepsis, who was managed through the use of a 54-day brickwork-mixed graft of self-allogeneic skin operation. The mechanisms of skin healing, in this case, are also discussed.
The brickwork-mixed graft of self-allogeneic skin may be an effective treatment option for patients with large surface area burns and severe burn sepsis. Further research is required to establish the generalizability of these findings. Early wound management and anti-infection measures are crucial in treating severe burns, and the clinical outcomes of the patient and the impact of the chosen treatment method on the patient's recovery and prognosis should be assessed.
Sheep are an important source of fiber production. Fibroblast growth factor 5 (FGF5) is a dominant inhibitor of length of the anagen phase of the hair cycle. Knockout or silencing of the gene results ...in a wooly coat in mice, donkeys, dogs, and rabbits. In sheep breeding, wool length is one of the most important wool quality traits. However, traditional breeding cannot accurately and efficiently mediate an advanced genotype into the sheep genome. In this study, we generated 3 knockout sheep via the 1-step clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 system. Sequencing analysis confirmed that mutations in the gene existed in all germ lines of 3 founders: besides the intact sequence, 3 kinds of deletions in the gene (including 5, 13, and 33 bp) were detected. The changes in the primary and senior structure of the FGF5 protein due to the 3 deletions in founders suggested that the FGF5 protein was dysfunctional. In addition, the expression level of intact mRNA in heterozygous individuals decreased compared with the wild types ( < 0.01). Functionally, we discovered that wool length in founders was significantly longer than in wild types ( < 0.05). Collectively, the knockout sheep with the longer wool length phenotype will provide an efficient way for fast genetic improvement of sheep breeding and promote the development of wool industry.
This study aimed to comprehensively evaluate factors that influence the likelihood of syphilis infection from risk-taking behaviours and medical conditions. A retrospective case-control study was ...conducted by enrolling 664 syphilis inpatients (excluding 11 congenital syphilis patients) and 800 sex- and age-matched controls. Medical histories, clinical data and patient interview data were collected and subjected to logistic regression analyses. The prevalence of syphilis in the study population was 3·9% (675/17 304). By univariate analysis, syphilis infection was associated with migration between cities, marital status, smoking, reproductive history, hypertension, elevated blood urea nitrogen (BUN) and infection with hepatitis B virus (HBV) (P < 0·05). A high rate of syphilis-HBV co-infection was observed in HIV-negative patients and further research revealed an association between syphilis and specific HBV serological reactivity. Syphilis was also associated with the frequency, duration and status of tobacco use. Multivariate analysis indicated that syphilis infection was independently associated with migration between cities adjusted odds ratio (aOR) 1·368, 95% confidence interval (CI) 1·048–1·785, current smoking (aOR 1·607, 95% CI 1·177–2·195), elevated BUN (aOR 1·782, 95% CI 1·188–2·673) and some serological patterns of HBV infection. To prevent the spread of infectious diseases, inpatients and blood donors should be tested for HIV, syphilis, HBV and HCV simultaneously.
To investigate the value of metagenomic next-generation sequencing (mNGS) in the diagnosis of Pneumocystis jirovecii pneumonia (PJP) in patients undergoing allogeneic hematopoietic stem cell ...transplantation (allo-HSCT) .
The data of 98 patients with suspected pulmonary infection after allo-HSCT who underwent pathogen detection from bronchoalveolar lavage fluid between June 2016 and August 2023 at Nanfang Hospital were analyzed. The diagnostic performance of mNGS, conventional methods, and real-time quantitative polymerase chain reaction (qPCR) for PJP were compared.
A total of 12 patients were diagnosed with PJP, including 11 with a proven diagnosis and 1 with a probable diagnosis. Among the patients with a proven diagnosis, 1 was positive by both conventional methods and qPCR, and 10 were positive by qPCR only. Pneumocystis jirovecii was detected by mNGS in all 12 patients. The diagnostic sensitivity of mNGS for PJP was 100%, which was greater than that of conventional methods (8.3%,
=0.001) and similar to t
Skin basal cell carcinoma (BCC) is the most common malignant skin tumor. Recent studies demonstrated that circular RNAs (circRNAs) are implicated in tumorigenesis and may represent potential ...therapeutic targets. The aim of the present study was to explore the expression profiles of circRNAs and their role in skin BCC.
Three pairs of skin BCC tissues and adjacent tissues were used to perform a circRNA microarray for screening of circRNA expression profiles. Circ_NCKAP1 was selected as a target circRNA by RT-qPCR verification and bioinformatics analysis. The effect of circ_NCKAP1 knockdown on cell proliferation and apoptosis was assessed using CCK8 and Annexin V-FITC/PI assays, and its regulation over the miR-148b-5p/HSP90 axis was assessed by dual-luciferase reporter assay.
Circ_NCKAP1 was found to be significantly upregulated in skin BCC tissues (p<0.05). In vitro loss-of-function assays demonstrated that circ_NCKAP1 knockdown markedly inhibited cell proliferation and promoted cell apoptosis (p<0.05). Moreover, Dual-Luciferase reporter assay identified that circ_NCKAP1 could bind to miR-148b-5p directly, and HSP90 was targeted by miR-148b-5p.
Circ_NCKAP1 can promote skin BCC progression by sponging the miR-148b-5p/HSP90 axis, and circ_NCKAP1 may be a potential target for skin BCC therapy.
This study aimed to investigate the prognostic significance of IKZF1 gene deletion in patients with acute B lymphoblastic leukemia (B-ALL) .
The clinical data of 142 patients with B-ALL diagnosed in ...Nanfang Hospital between March 2016 and September 2019 were analyzed.
IKZF1 deletion was found in 36.0% of the 142 patients with B-ALL, whereas exon 4-7 deletion was found in 44.0% . White blood cell counts were higher in patients with the IKZF1 deletion (52.0% and 28.3% ,
=0.005) ; these patients also experienced worse effects of mid-term induction therapy (40.0% and 70.7% ,
<0.001) and had a higher proportion of Philadelphia chromosome-positive (52.0% and 21.7% , respectively,
<0.001) . Univariate analysis revealed that the 3-year overall survival rate (OS) and event-free survival rate (EFS) in the IKZF1 deletion group were significantly lower than the IKZF1 wild-type group (37.1±7.3) %
(54.7±5.4) % , (51.8±7.9) %
(73.9±4.7) % ;
=0.025, 0.013, respectively. Multivariable analysis showed that harboring IKZF1 d
High-quality forsterite ceramics were successfully prepared using desert drift sands to replace the traditional materials at lower temperatures, which not only saves mineral resources but also ...greatly reduces the cost of ceramic. Meanwhile, the effects of two different proportions of drift sands on the phase formation, physical and mechanical properties of ceramics were also investigated. The experimental results show that drift sands with impurity cations have the lower melting temperature compared to the pure quartz and easy to form liquid phase. As a result, the formation temperature (800°C) of forsterite phase falls by 300°C compared to the forsterite ceramic prepared using analytical reagent (1100°C). Furthermore, drift sands as raw materials can effectively improve the physical and mechanical properties of forsterite ceramics. Finally, the content of forsterite phase can reach up to 95.70 wt %, and the obtained forsterite ceramics show the best physical and mechanical properties when sintered at 1300°C for 2 h.
Temporary strict emission control strategies were conducted to ensure good air quality for China's V-Day parade (August 20–September 3, 2015) in Beijing and nearby cities. The influence of the ...emission control on particle number size distribution (PNSD) was evaluated based on the long-term measurements of PNSD at a rural site (Shangdianzi) located northeast of Beijing. This study also presented the comparison results of PNSD during the parade in 2015 and the Olympics in 2008 (August 8–23), as well as the same period without strict emission control in 2010–2013 (August 20–September 3). Compared with the same period in 2010–2013 and 2008 Olympics, the accumulation mode particle number concentration showed a significant reduction in 2015, and the PM1 mass concentration decreased by approximately 60–90%. The alleviation of the PM1 was also associated with the weather conditions. The back trajectories analysis results showed that the southerly air mass passing through the polluted areas accounted for 14% of the total back trajectories in 2015, which contributed to approximately 60% in the other years. During the control period in 2015, there were six new particle formation (NPF) events observed, with a higher frequency, but a lower formation rate and growth rate than the same period in 2010–2013. The comparison of the condensation sink (CS), sulfuric acid, solar radiation and relative humidity among the different years indicated that at Shangdianzi station, the first factor in determining the NPF occurrence was the CS, and the second factor could be the concentration level of precursor vapors participating in the NPF event (e.g., sulfuric acid).
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•Emission control strategies were conducted during V-Day parade in 2015.•PM1 mass concentration was significantly reduced during V-Day parade.•Higher NPF event frequency in 2015 and 2008 than that in 2010–2013.•Lower J3–10 and GR in 2015 and 2008 than that in 2010–2013•CS and sulfuric acid were the main factors determining the NPF occurrence.
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