[Action Mechanism of Bacillus on Microalgae During Nitrogen Metabolism in Urban Tailwater].

To improve deep denitrification of black and odorous water and improve the quality of surface water, we studied the characteristics of nitrogen metabolism and denitrification of urban tailwater by microalgae (Z), Bacillus (Y), and Bacillus microalgae (ZY). The results showed that there was a good removal effect of ammonia nitrogen of group Z and group ZY in urban tailwater. The degradation rate of both groups reached 95%. The best effect on the removal of nitrite nitrogen was of group Z in urban tailwater. The combined action of Bacillus and Micrococcus played a relatively strong and stable effect on the conversion of nitrite nitrogen to nitrate nitrogen in the nitrogen cycle reaction. Bacillus could effectively remove nitrate nitrogen and improve the removal efficiency of nitrate nitrogen by microalgae. Best removal effect of nitrate nitrogen was observed in group ZY in urban tailwater, with a degradation rate as high as 99%, in which the nitrate nitrogen was removed almost completely. The Bacteria with high proportions in Z were Chroococcidiopsis_PCC_7203 (24.38%), uncultured_bacterium-g_norank_f_A4b (23.65%), Exiguobacteriu (7.09%), Leptolyngbya_PCC-6306(9.41%), and Bacillus (1.99%). The bacteria with high proportions in ZY were Brevibacillus (22.94%), Clostridium (8.78%), and Bacillus (4.88%), and the proportion of Chroococcidiopsis_PCC_7203 was only 7.84% in ZY, which was considerably lower than that in Z samples. The conclusions were as follows:microalgae could effectively remove ammonia nitrogen in the system. Bacillus and microalgae had very good removal effect of ammonia nitrogen and nitrate nitrogen. During the nitrogen removal of black and odorous water by algae, the Bacillus inhibited the excessive growth of microalgae and prevented eutrophication and black odor in water. This study can provide data support for the deep treatment of urban tail water and prevention of surface water eutrophication.

Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.

BACKGROUND: Expanded carrier screening (ECS) has become a common practice for identifying carriers of monogenic diseases. However, existing large gene panels are not well-tailored to Chinese populations. In this study, ECS testing for pathogenic variants of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in 330 genes implicated in 342 autosomal recessive (AR) or X-linked diseases was carried out. We assessed the differences in allele frequencies specific to the Chinese population who have used assisted reproductive technology (ART) and the important genes to screen for in this population. METHODOLOGY: A total of 300 heterosexual couples were screened by our ECS panel using next-generation sequencing. A customed bioinformatic algorithm was used to analyze SNVs and CNVs. Guidelines from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology were adapted for variant interpretation. Pathogenic or likely pathogenic (P/LP) SNVs located in high homology regions/deletions and duplications of one or more exons in length were independently verified with other methods. RESULTS: 64.83% of the patients were identified to be carriers of at least one of 342 hereditary conditions. We identified 622 P/LP variants, 4.18% of which were flagged as CNVs. The rate of at-risk couples was 3%. A total of 149 AR diseases accounted for 64.05% of the cumulative carrier rate, and 48 diseases had a carrier rate above 1/200 in the test. CONCLUSION: An expanded screening of inherited diseases by incorporating different variant types, especially CNVs, has the potential to reduce the occurrence of severe monogenic diseases in the offspring of patients using ART in China.

Application of Computed Tomography Perfusion Imaging-guided Mechanical Thrombectomy in Ischemic Stroke Patients with Large Vessel Occlusion beyond the Therapeutic Time Window.

INTRODUCTION: To explore the feasibility of applying computed tomography perfusion (CTP) imaging-guided mechanical thrombectomy in acute ischemic stroke patients with large vessel occlusion beyond the therapeutic time window. METHODS: The clinical data of acute cerebral infarction patients with large vessel occlusion who were beyond the therapeutic time window and admitted to Handan Central Hospital from January 2021 to March 2022 were retrospectively analyzed. All patients were assessed by the National Institutes of Health Stroke Scale (NIHSS) and were examined by one-stop CTP imaging. The preoperative onset time of the disease was more than 6 h. Fourteen patients underwent magnetic resonance imaging examination at the same time. Fifty-four patients were retrospectively divided into two groups based on the treatment methods: the mechanical thrombectomy group had 21 patients and the conservative treatment group had 33 patients. NIHSS scoring and computed tomography scan were performed before treatment, 6 h, 24 h, 7 days, and 30 days after treatment. RESULTS: The NIHSS scores of the patients with acute cerebral large vessel occlusion who underwent CTP imaging-guided mechanical thrombectomy at 6 h, 24 h, 7 days, and 30 days after treatment were compared with those of the conventional treatment group. The NIHSS score of the mechanical thrombectomy group was significantly better, and the difference was statistically significant (P < 0.05). In terms of the prognosis rate and expansion rate of infarct core volume, the patients of the mechanical thrombectomy group had a better prognosis, and the difference was statistically significant (P < 0.05). Artificial intelligence-assisted CTP diagnosis can facilitate the automatic evaluation of diseases and enable quick judgments that are independent of radiologists' evaluation, but it may pose a problem in the determination of infarct core volume (either being too high or too low). CONCLUSION: It is of great significance to apply CTP imaging in guiding the mechanical thrombectomy procedure in acute stroke patients with large vessel occlusion who are beyond the therapeutic time window.

[Nitrogen Metabolism and Flora Characteristics of Bacteria Algae Complex System].

In order to denitrify the urban tail water deeply and control the eutrophication of surface water, the molecular biology methods were used to study the nitrogen metabolism performance of the denitrification complex flora and the algal-bacteria symbiotic system. The results showed that the nitrogen metabolism complex flora was high ammonification and denitrification performance. The removal effect of ammonia nitrogen of group JZ was very well in urban tailwater, and the degradation rate was as high as 95%. The removal effect of total nitrogen of group JZ was better than that of group J in the experimental water distribution. High-throughput sequencing showed that the main dominant flora and proportion of group J were Firmicutes 44.53%, Proteobacteria 43.41%, Actinobacteria 5.37%, Bacteroidetes 3.04%, and Chloroflexi 1.35%. The main dominant bacterial groups in the group JZ were 33.89% Cyanobacteria, 25.34% Chloroflexi, 19.38% Proteobacteria, 10.02% Firmicutes, and 4.20% Acidobacteria. The dominant species in group J were compared with those in group JZ; the proportions were 82% and 18% in Firmicutes, 69% and 31% in Proteobacteria, 1% and 99% in Cyanobacteria, 5.1% and 95% in Chloroflexi, 73% and 27% in Actinobacteria. It was concluded that the removal effect of ammonia nitrogen of group JZ was high in the urban tailwater. With the addition and growth of Micrococcus in group J, the nitrogen metabolism flora in group JZ changed accordingly, so as to adapt to the environment in which the dominant algae formed. It forms a new nitrogen metabolism system of bacteria and algae with Micrococcus. This research provides a theoretical and data basis for the application of algal-bacterial co-metabolism systems.

Case report of acute encephalitis following the AstraZeneca COVID-19 vaccine.

Coronavirus disease 2019 (COVID-19) vaccines have proven to be safe, effective and life-saving. However, little information is available on the neurological complications of COVID-19 vaccine. Here, we report a case who developed acute encephalomyelitis 1 week after being vaccinated with AstraZeneca COVID-19 vaccine (AZ vaccine). Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) was also suspected. After intravenous dexamethasone and subcutaneous fondaparinux therapy, he returned to normal life without neurological sequelae. Four months later, he received Moderna COVID-19 vaccine without any sequelae.

A New Nomogram for Predicting the Risk of Intracranial Hemorrhage in Acute Ischemic Stroke Patients After Intravenous Thrombolysis.

Background: We aimed to develop and validate a new nomogram for predicting the risk of intracranial hemorrhage (ICH) in patients with acute ischemic stroke (AIS) after intravenous thrombolysis (IVT). Methods: A retrospective study enrolled 553 patients with AIS treated with IVT. The patients were randomly divided into two cohorts: the training set (70%, n = 387) and the testing set (30%, n = 166). The factors in the predictive nomogram were filtered using multivariable logistic regression analysis. The performance of the nomogram was assessed based on the area under the receiver operating characteristic curve (AUC-ROC), calibration plots, and decision curve analysis (DCA). Results: After multivariable logistic regression analysis, certain factors, such as smoking, National Institutes of Health of Stroke Scale (NIHSS) score, blood urea nitrogen-to-creatinine ratio (BUN/Cr), and neutrophil-to-lymphocyte ratio (NLR), were found to be independent predictors of ICH and were used to construct a nomogram. The AUC-ROC values of the nomogram were 0.887 (95% CI: 0.842-0.933) and 0.776 (95% CI: 0.681-0.872) in the training and testing sets, respectively. The AUC-ROC of the nomogram was higher than that of the Multicenter Stroke Survey (MSS), Glucose, Race, Age, Sex, Systolic blood Pressure, and Severity of stroke (GRASPS), and stroke prognostication using age and NIH Stroke Scale-100 positive index (SPAN-100) scores for predicting ICH in both the training and testing sets (p < 0.05). The calibration plot demonstrated good agreement in both the training and testing sets. DCA indicated that the nomogram was clinically useful. Conclusions: The new nomogram, which included smoking, NIHSS, BUN/Cr, and NLR as variables, had the potential for predicting the risk of ICH in patients with AIS after IVT.

Associations of Sperm mtDNA Copy Number, DNA Fragmentation Index, and Reactive Oxygen Species With Clinical Outcomes in ART Treatments.

Recent studies have suggested that sperm mitochondrial DNA copy number (mtDNA-CN), DNA fragmentation index (DFI), and reactive oxygen species (ROS) content are crucial to sperm function. However, the associations between these measurements and embryo development and pregnancy outcomes in assisted reproductive technology (ART) remain unclear. Semen samples were collected from 401 participants, and seminal quality, parameters of sperm concentration, motility, and morphology were analyzed by a computer-assisted sperm analysis system. DFI, mtDNA-CN, and ROS levels were measured using sperm chromatin structure assay, real-time quantitative polymerase chain reaction, and ROS assay, respectively. Among the participants, 126 couples underwent ART treatments, including in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and 79 of the couples had embryos transferred. In 401 semen samples, elevated mtDNA-CN and DFI were associated with poor seminal quality. In 126 ART couples, only mtDNA-CN was negatively correlated with the fertilization rate, but this correlation was not significant after adjusting for male age, female age, seminal quality, ART strategy, number of retrieved oocytes, controlled stimulation protocols, and cycle rank. Regarding pregnancy outcomes, sperm mtDNA-CN, ROS, and DFI were not associated with the clinical pregnancy rate or live birth rate in 79 transferred cases. In conclusion, increased mtDNA-CN and DFI in sperm jointly contributed to poor seminal quality, but sperm mtDNA-CN, ROS, and DFI were not associated with clinical outcomes in ART.

COVID-19 Screening for Hospitalized Patients: The Role of Expanded Hospital Surveillance in a Low Prevalence Setting.

PURPOSE: The COVID-19 pandemic poses a serious threat to healthcare workers and hospitalized patients. Early detection of COVID-19 cases is essential to control the spread in healthcare facilities. However, real-world data on the screening criteria for hospitalized patients remain scarce. We aimed to explore whether patients with negative results of pre-hospital screening for COVID-19 should be rescreened after admission in a low-prevalence (less than 3% of the world average) setting. PATIENTS AND METHODS: We retrospectively included patients in central Taiwan who were negative at the first screening but were newly diagnosed with pneumonia or had a body temperature above 38 degrees Celsius during their hospitalization. Each patient might be included as an eligible case several times, and the proportions of cases who were rescreened for COVID-19 and those diagnosed with COVID-19 were calculated. A logistic regression model was constructed to identify factors associated with rescreening. Reverse transcription-polymerase chain reaction tests were used to confirm the diagnosis of COVID-19. RESULTS: A total of 3549 cases eligible for COVID-19 rescreening were included. There were 242 cases (6.8%) who received rescreening. In the multivariable analysis, cases aged 75 years or older, those with potential exposure to SARS-CoV-2, or patients visiting specific departments, such as the Cardiovascular Center and Department of Neurology, were more likely to be rescreened. None was diagnosed with COVID-19 after rescreening. There was no known cluster infection outbreak in the hospital or in the local community during the study period and in the following two months. CONCLUSION: In Taiwan, a country with a low COVID-19 prevalence, it was deemed safe to rescreen only high-risk hospitalized patients. This strategy was effective and reduced unnecessary costs.

Genomics of Ochrobactrum pseudogrignonense (newly named Brucella pseudogrignonensis) reveals a new blaOXA subgroup.

Ochrobactrum pseudogrignonense (newly named Brucella pseudogrignonensis) is an emerging pathogen in immunodeficient and immunocompetent patients. Most documented cases associated with Ochrobactrum are frequently catheter-related and exhibit wide-spectrum ß-lactam resistance. Misidentification of this pathogen using commercial bacterial identification kits is common. We identified a case of O. pseudogrignonense infection associated with cholelithiasis. The O. pseudogrignonense genome was sequenced and reconstructed using a Nanopore and Illumina hybrid strategy. A novel blaOXA-919 divergent from existing OXA members was identified and subsequent analysis revealed its existence in all available O. pseudogrignonense genomes, which forms a new phylogenetic subgroup distinct from other OXA clusters. Further analysis demonstrated the presence of the novel blaOXA-919 in the chromosome of several other Ochrobactrum species. Our study indicated that Ochrobactrum chromosomes may be a reservoir of blaOXA-919 ß-lactamases.

Arthrobacter woluwensis Bacteremia: A Clinical and Genomic Report.

Arthrobacter woluwensis is a Gram-positive, aerobic Actinobacteria that is widely distributed in the environment worldwide. Little is known about A. woluwensis infection and it is commonly mis-identified by culturing with commercial kits. To date, only six cases of bacteremia caused by A. woluwensis have been reported in the literature. Herein, we report a case of Arthrobacter woluwensis bacteremia in an immunocompromised host. In this case report, the results of antimicrobial susceptibility testing showed that this clinical isolate of A. woluwensis is sensitive to vancomycin, teicoplanin, but resistant to penicillin, cephalosporin and ciprofloxacin. Additionally, whole genome sequencing analysis identified common subunits of the urease system.

5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.

Multiple endocrine neoplasia type 2 (MEN2) is a neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism, and extra-endocrine features. MEN2 syndrome includes two clinically distinct forms subtyped as MEN2A and MEN2B. Nearly all MEN2 cases are caused by germline mutations of the RET proto-oncogene. In this review, we propose "5P" strategies for management of MEN2: prevention, prediction, personalization, psychological support, and participation, which could effectively improve clinical outcomes of patients. Based on RET mutations, MEN2 could be prevented through prenatal diagnosis or preimplantation genetic testing. Identification of pathogenic mutations in RET can enable early diagnosis of MEN2. Combining RET mutation testing with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could allow risk stratification and accurately prediction of MEN2 progression, thus facilitating implementation of personalized precision treatments to increase disease-free survival and overall survival. Furthermore, increased awareness of MEN2 is needed, which requires participation of physicians, patients, family members, and related organizations. Psychological support is also important for patients with MEN2 to promote comprehensive management of MEN2 symptoms. The "5P" strategies for management of MEN2 represent a typical clinical example of precision medicine. These strategies could effectively improve the health of MEN2 patient, and avoid adverse outcomes, including death and major morbidity, from MEN2.

[Autologous platelet-rich plasma combined with bone grafting in inducing membrane technology].

OBJECTIVE: To compare clinical efficacy of autologous platelet-rich plasma combined with bone grafting and bone grafting in repairing bone defects on the second phase of induced membrane. METHODS: From January 2013 to September 2017, clinical data of 35 patients with bone defects treated by induced membrane technique were retrospectively analyzed. According to different surgical methods, the patients were divided into two groups. In group A, there were 18 patients, including 11 males and 7 females, aged from 17 to 61 years old with an average of(40.4±13.4) years old, the length of bone defect ranged from 3.6 to 18.0 cm with an average of (9.5±4.4) cm; and treated with platelet-rich plasma combined on the second-stage operation. In group B, there were 17 patients, including 11 males and 6 females, aged from 21 to 56 years old with an average of(43.1±12.3) years old, the length of bone defect ranged from 3.1 to 16.3 cm with an average of (9.1±3.7) cm; and treated with simple bone grafting. Operation time, amount of intraoperative blood loss, fracture healing time, the number of bone healing, the number of infection, and the number of complications were compared between two groups. RESULTS: All patients were followed up for 13 to 39 months with an average of(21.3±1.2) months. Operation time and blood loss in group A was(76.11±25.00) min, (78.89±14.91) ml, and in group B was (65.29±29.66) min, (79.41±20.45) ml; there were no statistical difference between two groups(P>0.05). According to imaging results, clinical healing time of bone in group A was (28.78±9.40) weeks, (36.17±9.68) weeks in group B, and had difference between two groups (t=2.294, P=0.028); there was no statistical difference in numbers of fracture healing between group A (17 cases) and group B (14 cases) (χ²=0.430, P=0.512). One patient in group A occurred infection and 6 patients in group B occurred infection, and had statistical difference between two groups (χ²=4.833, P=0.028). Two patients in group A occurred complications and 9 patients in group B occurred complications, which had difference between two groups (χ²=7.098, P=0.008). CONCLUSIONS: In the induction membrane technique, autologous platelet-rich plasma combined with bone grafting has obvious advantages in treating bone defects, shortening fracture healing time and reducing incidence of complications.

Incomplete Ear Amputation.

Ear amputations are common in emergency departments as the auricle's protrusion from the lateral aspect of the head makes it particularly susceptible to trauma. Of the numerous approaches for auricle injuries, the classic methods include microsurgical replantation, primary reattachment, composite graft, retroauricular pocket principle, secondary reconstruction with rib cartilage, and methods using postauricular flap. The success of the operation depends largely on choosing the appropriate surgical procedure since many factors can influence surgical outcome. There is no 1 gold standard technique to treat the variety of auricle injuries. Inappropriate choice of surgical approach can be detrimental to subsequent reconstructive surgery. Therefore, the initial choice of optimal surgical approach is particularly important. In this article, a rare report of left subtotal ear laceration with inferior lobule pedicle by nonmicrosurgical primary reattachment was presented. The operation obtained an ideal cosmetic effect.

Application of the 3D digital ostectomy template (DOT) in mandibular angle ostectomy (MAO).

BACKGROUND: Mandibular angle ostectomy (MAO) is a standard approach in reconstruction of facial contour that is commonly used in East Asian patients with prominent mandibular angles (PMA). MAO is commonly performed via an intraoral approach to reduce scar visibility and risk of facial nerve injury. Since this intraoral approach for MAO has limited visual guidance during the procedure, plastic surgeons often perform the operation based on personal clinical experience. Therefore, we designed a 3D digital ostectomy template (DOT) for guidance during surgery to improve the accuracy and safety of MAO. METHODS: 10 female patients (average age 25.3 years) with PMA were enrolled in this study from August 2014 to October 2015. The DOTs were designed and printed preoperatively and utilized in the operation to guide the osteotomy. The excised mandibular angle bone and the DOTs were measured respective to each other. The data were analyzed to verify the feasibility and safety of the DOT. RESULTS: All of the patients were satisfied with the surgical results, and no complications such as fracture, hemorrhage and infection occurred. The distance from gonion (Go) along inferior margin of mandible forward to the distal end of the excised bone is "a". The distance from Go along posterior margin of ramus upward to the distal end of the excised bone is "b". The widest distance from Go to the ostectomy line is denoted by "c". Similarly, the corresponding distance in the DOT is denoted by "a'", "b'", "c'". The statistical results showed that left a vs a', b vs b', c vs c' was 63.27 ± 6.39 mm vs 62.97 ± 6.30 mm (p > 0.05), 23.98 ± 2.25 mm vs 21.83 ± 2.27 mm (p < 0.05), 13.58 ± 2.24 mm vs 13.37 ± 2.14 mm (p > 0.05), respectively. The right a vs a', b vs b', c vs c' was 62.92 ± 5.00 mm vs 62.72 ± 4.99 mm (p > 0.05), 24.03 ± 1.88 mm vs 21.80 ± 1.91 mm (p < 0.05), 13.36 ± 1.70 mm vs 13.22 ± 1.72 mm (p > 0.05), respectively. The results indicate a significant difference between b and b' both on the right and left sides. CONCLUSION: Through the application of DOT in MAO, the accuracy and safety of the operation were improved significantly. Unfortunately, the osteotomy could not be guided well in the posterior rim of the ramus. Further improvements in the surgical template are needed for application in PMA associated with oversized chin deformity or in PMA associated with large mandibular angle and severe involution.

[Liver and Kidney Function of E-waste Dismantling Workers and Potential Influencing Factors].

High levels of exposure to heavy metals and persistent organic pollutants (POPs) by e-waste dismantling workers has attracted increasing attention, but the health conditions of the workers are seldom reported. The liver and kidney functions of the workers were studied by comparing the blood indicators of the worker group with those of the control group. Moreover, factors affecting the liver and kidney functions, such as the sexuality, age, and working time, were identified using correlation analysis. The ratio of aspartate transaminase and alanine aminotransferase (AST/ALT) and the direct bilirubin (DBIL) of the workers were significantly lower than the control group but the abnormal rate of liver and kidney remained the same in both groups. The abnormal rates of liver and kidney were higher in men than in women. ALT, AST/ALT, and urea nitrogen (BUN) increased with age while creatinine (CREA) increased with working time. The factors of liver and kidney damage caused by POPs and DBIL can be used as the indicators of the damage caused by multi-factors.

Identification of significant biomarkers and pathways associated with gastric carcinogenesis by whole genome-wide expression profiling analysis.

The incidence of gastric cancer (GC) is extremely high in East Asia. GC is also one of the most common and lethal forms of cancer from a global perspective. However, to date, we have not been able to determine one or several genes as biomarkers in the diagnosis of GC and have also been unable to identify the genes which are important in the therapy of GC. In this study, we analyzed all genome-wide expression profiling arrays uploaded onto the Gene Expression Omnibus (GEO) database to filtrate the differentially expressed genes (DEGs) between normal stomach tissues and GC tissues. GSE13911, GSE19826 and GSE79973 were based on the GPL570 platform, and GSE29272 was based on the GPL96 platform. We screened out the DEGs from the two platforms and by selecting the intersection of these two platforms, we identified the common DEGs in the sequencing data from different laboratories. Finally, we obtained 3 upregulated and 34 downregulated DEGs in GC from 384 samples. As the number of downregulated DEGs was greater than that of the upregulated DEGs, functional analysis and pathway enrichment analysis were performed on the downregulated DEGs. Through our analysis, we identified the most significant genes associated with GC, such as secreted phosphoprotein 1 (SPP1), sulfatase 1 (SULF1), thrombospondin 2 (THBS2), ATPase H+/K+ transporting beta subunit (ATP4B), gastric intrinsic factor (GIF) and gastrokine 1 (GKN1). The prognostic power of these genes was corroborated in the Oncomine database and by Kaplan-Meier plotter (KM-plotter) analysis. Moreover, gastric acid secretion, collecting duct acid secretion, nitrogen metabolism and drug metabolism were significantly related to GC. Thus, these genes and pathways may be potential targets for improving the diagnosis and clinical effects in patients with GC.

Management of Talar Component Subsidence.

Component subsidence has been found to be the top complication that leads to failure of the total ankle arthroplasty (TAA). The cause of subsidence formation is unclear, and is multifactorial. Talar subsidence is more frequently met than tibial subsidence, and the subsequent big bone loss is demanding to handle. As a revision treatment option, neither a revision TAA nor a salvage ankle and/or hindfoot arthrodesis procedure is easy to perform or can obtain a definite outcome. The Salto XT can be used to treat most of the TAA systems available for use in the United States with acceptable short-term outcomes.

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.

X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1.

Efficacy of Calcaneus Osteotomy for Treatment of Symptomatic Müller-Weiss Disease.

BACKGROUND: Various methods of midfoot and hindfoot arthrodesis for treating symptomatic Müller-Weiss disease (MWD) have been reported in the literature. In this study, we present the results of a previously unreported method of treatment using a calcaneal osteotomy incorporating a wedge and lateral translation. METHODS: Thirteen patients (14 feet) with MWD were treated with a calcaneal osteotomy and retrospectively reviewed. These included 7 females and 6 males, with an average age of 56 years (33-79 years), and an average symptoms duration of 10.6 years (1-16 years). The disease was staged according to Maceira, which included 5 feet in stage II, 4 feet in stage III, 4 feet in stage IV, and 1 foot in stage V. Pre- and postoperative visual analog scale (VAS) score, American Orthopaedic Foot & Ankle Society (AOFAS), radiologic examination, and patients' satisfaction rate of the surgery were evaluated at an average of 3.7 years (range, 1-8.5 years) following surgery. RESULTS: The final follow-up visit showed satisfactory outcomes, with VAS score reducing from the preoperative 8 (7-9) to postoperative 2 (0-4), whereas the AOFAS score improved from the preoperative 29 (20-44) to the postoperative 79 (70-88). The patient's subjective ratings showed excellent results in 4 feet, good results in 8 feet, and fair outcomes in 2 feet. The hindfoot range of motion remained unchanged, as did the extent of the navicular complex arthritis, and no patient required an arthrodesis since surgery. CONCLUSION: A calcaneal osteotomy can be used as an alternative treatment option for selected MWD patients regardless of the radiologic stage of the disease. LEVEL OF EVIDENCE: Level IV, retrospective case series.

[Effects of elevated ozone concentrations on reactive oxygen metabolism and related gene expression in Ginkgo biloba leaves]. / å¤§æ°”è‡­æ°§æµ“åº¦å‡é«˜å¯¹é“¶æå¶ç‰‡æ´»æ€§æ°§ä»£è°¢åŠç›¸å ³åŸºå› è¡¨è¾¾çš„å½±å“.

By using the open top chambers (OTCs) fumigation method, this paper investigated the changes of foliar injury, level of reactive oxygen species (ROS), activities and gene expression of antioxidant enzymes in Ginkgo biloba leaves under different ozone (ambient ozone≈40, 80, 160, 200 nmol·mol-1) concentrations, in order to study the effects of elevated ozone (O3) concentrations on reactive metabolism. The results showed that the obvious foliar injuries were observed in 160 and 200 nmol·mol-1 O3 treatments, while no visible injury was observed in 80 nmol·mol-1 O3 and ambient O3 treatments. After 20 d, a significant increase in O2-· generation rate was observed in G. biloba leaves exposed to 160, 200 nmol·mol-1 O3, compared with ambient ozone and 80 nmol·mol-1 O3, and there were no significant differences between ambient O3 and 80 nmol·mol-1 treatments. After 40 d, H2O2 content of G. biloba leaves in 160 and 200 nmol·mol-1 O3 was significantly higher than that in 80 nmol·mol-1 and ambient ozone, respectively. The activities of catalase (CAT) in 160 and 200 nmol·mol-1 treatments were also significantly higher than that in 80 nmol·mol-1 and ambient O3 treatments. The ascorbate peroxidase (APX) activity of leaves for each elevated O3 treatment was lower than that of ambient ozone. The level of CAT and APX expression increased progressively after 40 d O3 treatment. The expression intensity of GbD was conspicuously strengthened along with the increase of ozone concentration and fumigation time. Le-vel of reactive oxygen increased, activities of antioxidant enzyme decreased, level of gene expression down-regulated, and foliar visible injury was observed in leaves of G. biloba in elevated ozone stress.