Efficacy and safety of Xingnaojing injection for post-operative patients of intracerebral haemorrhage: a meta-analysis and systematic review.

Background: Intracerebral haemorrhage (ICH) is the deadliest subtype of stroke. Surgery remains a vital measure for life-saving in emergency situations, however, the recovery of post-operative patients is not optimistic. This study aimed to evaluate the evidence of the efficacy and safety of Xingnaojing injection (XNJ) for post-operative patients of ICH. Methods: From inception to 31 January 2024, we searched eight representative databases for randomized controlled trials on post-operative patients of ICH treated with XNJ. A meta-analysis was conducted using R4.2.2, and the quality of the evidence was evaluated by GRADE criteria. Results: The results indicated that the combination of XNJ with conventional western medicine therapy improved the total efficiency rate (RR = 1.26; 95% CI [1.21 to 1.32]; p < 0.0001), reduced the all-cause mortality within 15 days (RR = 0.45; 95% CI [0.30 to 0.67]; p < 0.0001), decreased the volume of hematoma (MD = -4.72; 95% CI [-7.43 to -2.01]; p = 0.0006) and perihematomal edema (MD = -4.11; 95% CI [-8.11 to -0.11]; p = 0.0441), reduced the TNF-α levels (SMD = -1.61, 95% CI [-2.23 to -0.99], p < 0.0001), decreased neurological impairment (SMD = -1.44; 95% CI [-1.78 to -1.11]; p < 0.0001), improved the activities of daily living (SMD = 1.22; 95% CI [0.78 to 1.66]; p < 0.0001), and enhanced the consciousness level (MD = 2.08, 95% CI [1.22 to 2.93], p < 0.0001). In addition, the complications of the combination therapy group were lower (RR = 0.43; 95% CI [0.35 to 0.54]; p < 0.0001) and the adverse drug reactions were comparable to the control group (RR = 0.89; 95% CI [0.55 to 1.45]; p = 0.6521). The trial sequential analysis results showed that the sample size is sufficient. Conclusion: Current evidence indicates that XNJ can enhance the efficiency, reduce mortality, and lower the incidence of complications, while demonstrating good tolerability of post-operative patients of ICH. However, the level of evidence from existing studies is relatively weak, and only prove short-term effects, and high-quality RCTs are needed to further verify the accuracy of these conclusions. Systematic Review Registration: identifier (PROSPERO 2024 CRD42024503006). https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024503006, Identifier CRD42024503006.

Identification of a novel mutation in chibby family member 2 in a non-obstructive azoospermic patient.

Azoospermia constitutes a significant factor in male infertility, defined by the absence of spermatozoa in the ejaculate, afflicting 15% of infertile men. However, a subset of azoospermic cases remains unattributed to known genetic variants. Prior investigations have identified the chibby family member 2 (CBY2) as prominently and specifically expressed in the testes of both humans and mice, implicating its potential involvement in spermatogenesis. In this study, we conducted whole exome sequencing (WES) on an infertile family to uncover novel genetic factors contributing to azoospermia. Our analysis revealed a homozygous c .355 C>A variant of CBY2 in a non-obstructive azoospermic patient. This deleterious variant significantly diminished the protein expression of CBY2 both in vivo and in vitro, leading to a pronounced disruption of spermatogenesis at the early round spermatid stage post-meiosis. This disruption was characterized by a nearly complete loss of elongating and elongated spermatids. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) and co-immunoprecipitation assays demonstrated the interaction between CBY2 and Piwi-like protein 1 (PIWIL1). Immunofluorescence staining further confirmed the co-localization of CBY2 and PIWIL1 in the testes during the spermatogenic process in both humans and mice. Additionally, diminished PIWIL1 expression was observed in the testicular tissue from the affected patient. Our findings suggest that the homozygous c .355 C>A variant of CBY2 compromises CBY2 function, contributing to defective spermatogenesis at the round spermiogenic stage and implicating its role in the pathogenesis of azoospermia.

Prevalence and risk factors associated with circadian syndrome in community-dwelling middle-aged to older adults: Based on health ecology model.

OBJECTIVES: To explore the prevalence and risk factors associated with circadian syndrome (CricS) in community-dwelling middle-aged to older adults. METHOD: We performed a cross-sectional analysis of 13,516 participants from the China Health and Retirement Longitudinal Study (CHARLS). We used logistic regression to compute the odds ratios (OR) and 95 % confidence intervals (Cls), using covariates derived through the health ecology model. RESULTS: The overall prevalence of CricS was 31.5 % (25.0 % males and 37.1 % females). With controlling all covariates, social isolation (OR 1.164, 95%CI 1.033-1.310), irritable mood (OR 1.689, 95%CI 1.488-1.917), fear responses (OR 1.546, 95%CI 1.262-1.894), chronic disease (OR 1.577, 95%CI 1.392-1.788), and financial debt (OR 0.806, 95%CI 0.657-0.990) were significantly correlated with increased CricS risk in males, whereas CricS syndrome was significantly associated with age (OR 1.285, 95%CI 1.214-1.361), married (OR 1.258, 95%CI 1.089-1.452), current drinkers (OR 0.835, 95%CI 0.716-0.974), social isolation (OR 1.175, 95%CI 1.065-1.296), irritable mood (OR 1.346, 95%CI 1.210-1.497), fear responses (OR 1.202, 95%CI 1.047-1.378), chronic disease (OR 1.363, 95%CI 1.225-1.517), chronic pain (OR 1.177, 95%CI 1.058-1.309), and universal basic income (OR 0.742, 95%CI 0.611-0.900) in females. CONCLUSION: CricS is common in middle-aged to older adults, and health behavior factors have an important impact on CricS. The potential predictors identified for CricS should be further studied to prevent the occurrence of adverse health events in the presenium stage.

Mesenchymal stem cell-derived exosomes promote tissue repair injury in rats with liver trauma by regulating gut microbiota and metabolism.

OBJECTIVE: The effects of mesenchymal stem cells (MSCs) and MSC-derived exosomes (MSC-exos) on serum metabolites and intestinal microbiota in rats after liver trauma were discussed. METHODS: Adult Wistar Albino rats were assigned into control, model (liver trauma), MSCs, and MSC-exos groups (n = 6). The study examined changes in the inflammatory environment in liver tissues were analyzed by histological examination and analysis of macrophage phenotypes. Alterations in serum metabolites were determined by untargeted metabonomics, and gut microbiota composition was characterized by 16S rDNA sequencing. Correlations between specific gut microbiota, metabolites, and inflammatory response were calculated using Spearman correlation analysis. RESULTS: Rats with liver trauma after MSCs and MSC-exos treatment exhibited attenuated inflammatory infiltration and necrosis in liver tissues. MSCs and MSC-exos treatment reduced the proportion of M1 macrophages, accompanied by a decrease in inducible nitric oxide synthase (iNOS) and tumor necrosis factor-alpha (TNF-α) levels. Furthermore, MSCs and MSC-exos treatment expanded the proportion of M2 macrophages, accompanied by an increase in arginase-1 (Arg-1) and interleukin-10 (IL-10) levels. The beneficial effects of MSC-exo treatment on rats with liver trauma were superior to those of MSC treatment. The composition and abundance of the gut microbiota and metabolites were altered in pathological rats, whereas MSC and MSC-exo intervention partially restored specific gut microbiota and metabolite alterations. At the phylum level, alterations in Bacteroidota, Proteobacteria, and Verrucomicrobiota were observed after MSC and MSC-exo intervention. At the genus level, Intestinimonas, Alistipes, Aerococcus, Faecalibaculum, and Lachnospiraceae_ND3007_group were the main differential microbiota. 6-Methylnicotinamide, N-Methylnicotinamide, Glutathione, oxidized, ISOBUTYRATE, ASCORBATE, EICOSAPENTAENOATE, GLYCEROL 3-PHOSPHATE, and Ascorbate radical were selected as important differential metabolites. There was a clear correlation between Ascorbate, Intestinimonas/Faecalibaculum and inflammatory cytokines. CONCLUSION: MSC-exos promoted the repair of tissue damage in rats with liver trauma by regulating serum metabolites and intestinal microbiota, providing new insights into how MSC-exos reduced inflammation in rats with liver trauma.

Optimizing Levothyroxine Replacement: A Precision Dosage Model for Post-Thyroidectomy Patients.

Background: Thyroidectomy is commonly performed for benign or malignant thyroid tumors, often resulting in hypothyroidism. Levothyroxine (LT4) supplementation is crucial to maintain hormone levels within the normal range and suppress TSH for cancer control. However, determining the optimal dosage remains challenging, leading to uncertain outcomes and potential side effects. Methods: We analyzed clinical examination data from 510 total thyroidectomy patients, including demographic information, blood tests, and thyroid function. Using R, we applied data preprocessing techniques and identified 274 samples with 98 variables. Principal Component Analysis, correlation analysis, and regression analysis were conducted to identify factors associated with optimal LT4 dosage. Results: The analysis revealed that only eight variables significantly influenced the final satisfactory dosage of LT4 in tablets: Benign0/Malignant1 (benign or malignant), BQB (electrophoretic albumin ratio), TP (total protein), FDP (fibrin degradation products), TRAB_1 (thyroid-stimulating hormone receptor antibody), PT (prothrombin time), MONO# (monocyte count), and HCV0C (hepatitis C antibody). The resulting predictive model was: . Conclusion: Parameters such as benign/malignant status, TRAB_1, and BQB ratio during medication can serve as observational indicators for postoperative LT4 dosage. The calculated linear model can predict the LT4 dosage for patients after thyroidectomy, leading to improved treatment effectiveness and conserving medical resources.

Nitrogen-oxygen co-doped carbon@silica hollow spheres as encapsulated Pd nanoreactors for acetylene dialkoxycarbonylation.

The introduction of heteroatoms into hollow carbon spheres is imperative for enhancing catalytic activity. Consequently, we investigated the utilization of nitrogen-oxygen(N/O) co-doped hollow carbon (C)/silica (SiO2) nanospheres (NxC@mSiO2), which have a large internal volume and a nano-constrained environment that limits metal aggregation and loss, making them a potential candidate. In this study, we demonstrate the synthesis of nitrogen-oxygen (N/O) co-doped hollow carbon spheres using resorcinol and formaldehyde as carbon precursors, covered with silica, and encapsulated with palladium nanoparticles (NPs) in situ. The N/O co-doping process introduced defects on the surface of the internal C structure, which acted as active sites and facilitated substrate adsorption. Subsequent treatment with hydrogen peroxide (H2O2) introduced numerous carboxyl groups onto the C structure, increasing the catalytic environment as acid auxiliaries. The carboxyl group is present in the carbon structure, as determined calculations based on by density functional theory, reduces the adsorption energy of acetylene, thereby promoting its adsorption and enrichment. Furthermore, H2O2-treatment enhanced the oxygen defects in the carbon structure, improving the dispersion of Pd NPs and defect structure. The Pd/NxC@mSiO2-H2O2 catalysts demonstrated outstanding performance in the acetylene dialkoxycarbonylation reaction, showcasing high selectivity towards 1,4-dicarboxylate (>93 %) and remarkable acetylene conversion (>92 %). Notably, the catalyst exhibited exceptional selectivity and durability throughout the reaction.

Development and validation of a nomogram to predict spontaneous preterm birth in singleton gestation with short cervix and no history of spontaneous preterm birth.

Background: Spontaneous preterm birth (sPTB) stands as a leading cause of neonatal mortality. Consequently, preventing sPTB has emerged as a paramount concern in healthcare. Therefore, our study aimed to develop a nomogram, encompassing patient characteristics and cervical elastography, to predict sPTB in singleton pregnancies. Specifically, we targeted those with a short cervix length (CL), no history of sPTB, and who were receiving vaginal progesterone therapy. Methods: A total of 568 patients were included in this study. Data from 392 patients, collected between January 2016 and October 2019, constituted the training cohort. Meanwhile, records from 176 patients, spanning November 2019 to January 2022, formed the validation cohort. Following the univariate logistic regression analysis, variables exhibiting a P-value less than 0.05 were integrated into a multivariable logistic regression analysis. The primary objective of this subsequent analysis was to identify the independent predictors linked to sPTB in the training cohort. Next, we formulated a nomogram utilizing the identified independent predictors. This tool was designed to estimate the likelihood of sPTB in singleton pregnancies, particularly those with a short CL, devoid of any sPTB history, and undergoing vaginal progesterone therapy. The C-index, Hosmer-Lemeshow (HL) test, calibration curves, decision curve analysis (DCA), and receiver operating characteristic (ROC) were used to validate the performance of the nomogram. Results: Upon finalizing the univariate analysis, we progressed to a multivariable analysis, integrating 8 variables with P < 0.05 from the univariate analysis. The multivariable analysis identified 7 independent risk factors: maternal age (OR = 1.072; P < 0.001), cervical length (OR = 0.854; P < 0.001), uterine curettage (OR = 7.208; P < 0.001), GDM (OR = 3.570; P = 0.006), HDP (OR = 4.661; P = 0.003), C-reactive protein (OR = 1.138; P < 0.001), and strain of AI (OR = 7.985; P < 0.001). The nomogram, tailored for sPTB prediction, was grounded on these 7 independent predictors. In predicting sPTB, the C-indices manifested as 0.873 (95% CI, 0.827-0.918) for the training cohort and 0.916 (95%CI, 0.870-0.962) for the validation cohorts, underscoring a good discrimination of the model. Additionally, the ROC curves served to evaluate the discrimination of nomogram model across both cohorts. Calibration curves were delineated, revealing no statistically significant differences in both the training (χ2 = 5.355; P = 0.719) and validation (χ2 = 2.708; P = 0.951) cohorts as evidenced by the HL tests. Furthermore, the DCA underscored the model's excellence as a predictive tool for sPTB. Conclusions: By amalgamating patient characteristics and cervical elastography data from the second trimester, the nomogram emerged as a visually intuitive and dependable tool for predicting sPTB. Its relevance was particularly pronounced for singleton pregnancies characterized by a short CL, an absence of prior sPTB incidents, and those receiving vaginal progesterone therapy.

Prevalence and predictive risk factors of self-stigmatization in patients with rare diseases: Based on health ecology model.

BACKGROUND AND AIMS: Given the cause of self-stigmatization of patients with rare diseases is complicated, and the self-stigmatization can be prevented by managing the related risk factors. This study aimed to report the prevalence as well as influencing factors associated with self-stigmatization in patients with rare diseases. METHODS: From January to April 2022, the respondent-driven sampling (RDS) method was used to select patients with rare diseases through the Chinese Organization for Rare Disorders as the subjects. Based on the theoretical model of health ecology, logistic regression analysis was used to explore the association between self-stigmatization level and sample characteristics of patients with rare diseases. RESULTS: A total of 530 patients were included, 50.2% of whom were male, and most of them are under 45 years old (86.5%). The prevalence of self-stigmatization in patients with rare diseases was 85.7%. Logistic regression analysis indicated that age (OR: 0.624, 95% CI: [0.399, 0.976]), mental health status (OR: 0.184, 95% CI: [0.076, 0.445]), family relations (OR: 0.180, 95% CI: [0.074, 0.434]), full time work (OR: 2.835, 95% CI: [1.024, 7.849]) and medical insurance (OR: 0.296, 95% CI: [0.105, 0.835]) were risk factors for self-stigmatization of patients with rare diseases. CONCLUSIONS: Chinese patients with rare diseases have a high level of self-stigmatization, and the potential risk factors are multi-level and multi-dimensional.

Modified Skin Incision and Location of Burr-Hole Surgery via a Retrosigmoid Approach: An Anatomical Study.

Objective This study aims to reduce the tissue damage during craniotomy with retrosigmoid approach. A modified sickle-shaped skin incision was developed, and a new burr-hole positioning method was proposed. Methods Five adult cadaveric heads (10 sides) were used in this study. The sickle-shaped skin incision was performed during craniotomy. The nerves, blood vessels, and muscles were observed and measured under a microscope. Additionally, 62 dry adult skull specimens (left sided, n = 35; right sided, n = 27) were used to measure the distance between the most commonly used locating point (asterion [Ast] point) and the posteroinferior point of the transverse sigmoid sinus junction (PSTS) (Ast-PSTS), as well as the distance between the new locating O point and the PSTS (O-PSTS). Then, the reliability of the new locating O point was validated on the same five adult cadaveric heads (10 sides) used for the sickle-shaped skin incision. Results The sickle-shaped skin incision reduced the damage to the occipital nerves, blood vessels, and muscles during the surgery via a retrosigmoid approach. The dispersion and variability of O-PSTS were smaller than those of Ast-PSTS. Conclusion The sickle-shaped skin incision of the retrosigmoid approach can reduce the tissue damage and can completely expose the structures in the cerebellopontine angle. The modified O point is a more reliable locating point for a burr-hole surgery than the Ast point.

CEP128 is involved in spermatogenesis in humans and mice.

Centrosomal proteins are necessary components of the centrosome, a conserved eukaryotic organelle essential to the reproductive process. However, few centrosomal proteins have been genetically linked to fertility. Herein we identify a homozygous missense variant of CEP128 (c.665 G > A [p.R222Q]) in two infertile males. Remarkably, male homozygous knock-in mice harboring the orthologous CEP128R222Q variant show anomalies in sperm morphology, count, and motility. Moreover, Cep128 knock-out mice manifest male infertility associated with disrupted sperm quality. We observe defective sperm flagella in both homozygous Cep128 KO and KI mice; the cilia development in other organs is normal-suggesting that CEP128 variants predominantly affected the ciliogenesis in the testes. Mechanistically, CEP128 is involved in male reproduction via regulating the expression of genes and/or the phosphorylation of TGF-ß/BMP-signalling members during spermatogenesis. Altogether, our findings unveil a crucial role for CEP128 in male fertility and provide important insights into the functions of centrosomal proteins in reproductive biology.

A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.

PURPOSE: To evaluate the unknown genetic causes of teratozoospermia, and determine the pathogenicity of candidate variants. METHODS: A primary infertile patient and his family members were recruited in the West China Second University Hospital of Sichuan University. Whole-exome sequencing was performed to identify causative genes in a man with teratozoospermia. Immunofluorescence staining and western blotting were applied to assess the pathogenicity of the identified variant. Intracytoplasmic sperm injection (ICSI) was used to assist fertilization for the patient with teratozoospermia. RESULTS: We performed whole-exome sequencing (WES) and detected a novel homozygous frameshift mutation of c.335_336del [p.E112Vfs*3] in DNAJB13 on a primary infertile male patient. Intriguingly, we identified abnormal sperm morphology in this patient, with recurrent respiratory infections and chronic cough. Furthermore, we confirmed that this mutation resulted in negative effects on DNAJB13 expression in the spermatozoa of the affected individual, causing ultrastructural defects in his sperm. Remarkably, our staining revealed that DNAJB13 was expressed in the cytoplasm of primary germ cells and in the flagella of spermatids during spermiogenesis in humans and mice. Finally, we are the first group to report a favorable prognosis using ICSI for a patient carrying this DNAJB13 mutation. CONCLUSION: Our study revealed a novel homozygous frameshift mutation of c.335_336del [p.E112Vfs*3] in DNAJB13 involved in teratozoospermia phenotype. Our study greatly expands the spectrum of limited DNAJB13 mutations, and is expected to provide a better understanding of genetic counseling diagnoses and subsequent treatment of male infertility.

Primary salivary acinar cell carcinoma of the parotid gland with parietal skull metastasis: A case report.

Acinar cell carcinoma of the salivary gland (AciCC) is a rare low-grade epithelial malignant tumor of the salivary gland. The primary site of the disease is often in the parotid gland, followed by the submandibular gland and small salivary gland. In the early stage of the disease, there are no obvious symptoms, most of which are slow enlargement of the mass, accompanied by local pain or discomfort, or facial paralysis involving the facial nerve. Although the disease is a low-grade malignant tumor, it is invasive to a certain extent and prone to recurrence and metastasis. The metastasis sites are usually liver, lung, stomach and other visceral organs, while the metastasis of brain and skull is rarely reported by other authors. This paper reports a case of skull tumors, unlike other skull tumors, the patients had typical clinical manifestations and imaging findings are not ideal at the same time, considering the history of patients with parotid gland tumor, in the process of diagnosis for us to produce a large disturbance, single-shot, due to the lesions in the exclusion of the patients with other diseases, we decided to surgery was performed in patients with the treatment, The patient's condition improved after surgical treatment and was diagnosed as salivary adenocarcinoma with skull metastasis by pathology. This article summarizes the diagnosis and treatment of the patient, and summarizes some of the author's treatment experience, in order to increase the understanding of the disease, improve the accuracy of diagnosis, and accumulate relevant clinical experience.

A novel mutation in DNAH17 is present in a patient with multiple morphological abnormalities of the flagella.

RESEARCH QUESTION: Asthenoteratospermia is characterized by malformed spermatozoa with motility defects, which results in male infertility. Multiple morphological abnormalities of the sperm flagella (MMAF) is a hallmark of asthenoteratospermia. The genetic causes of MMAF, however, are unknown in about one-third of cases. Which other MMAF-associated genes are waiting to be discovered? DESIGN: Whole-exome sequencing was conducted to identify causative genes in a man with MMAF. Immunofluorescence staining and western blot were applied to assess the pathogenicity of the identified variant. Intracytoplasmic sperm injection (ICSI) was used to assist fertilization for the patient with MMAF. RESULT: Sanger sequencing of the family demonstrated that the infertile man carried a homozygous DNAH17 variant (c. 4810C>T [p.R1604C]). The obviously decreased DNAH17 expression was observed in HEK293T cells transfected with MUT-DNAH17 plasmid compared with cells with WT-DNAH17 plasmid. Immunofluorescence analysis showed that this mutation induced significant decrease in DNAH17 expression, which negatively affected the DNAH8 expression in the patient's spermatozoa. Moreover, the outcome of ICSI in the patient was unsuccessful. CONCLUSION: Our study revealed a novel homozygous missense mutation in DNAH17 involved in MMAF phenotype. The finding of the novel mutation in DNAH17 enriches the gene variant spectrum of MMAF, further contributing to diagnosis, genetic counselling and prognosis for male infertility.

Hydrogen regulates the M1/M2 polarization of alveolar macrophages in a rat model of chronic obstructive pulmonary disease.

OBJECTIVE: Chronic obstructive pulmonary disease (COPD) is a respiratory disease with high morbidity and mortality worldwide, so far there is no ideal treatment method. Previous studies have shown that hydrogen (H2) is involved in the treatment of COPD as an antioxidant. In this study, the effect of H2 on M1/M2 polarization of alveolar macrophages in COPD rats was observed, and its anti-inflammatory mechanism was further elucidated. Methods: Twenty-four Sprague-Dawley rats were randomly divided into three groups including the control, COPD and H2 group. A rat model of COPD was established by cigarette exposure combined with lipopolysaccharide (LPS) induction. H2 therapy was administered 2 hours per day for 14 days. Lung function and pathology were assessed. The levels of interleukin (IL)-6, tumor necrosis factor (TNF)-α, transforming growth factor (TGF)-ß1 and IL-10 in bronchoalveolar lavage fluid (BALF) and lung tissue were measured by enzyme-linked immunosorbent assay. The mRNA, protein expression and immunoreactivity of inducible nitric oxide synthase (iNOS) and arginase (Arg)-1 in lung were observed by quantitative real-time PCR, western blot and immunohistochemistry. Results: Compared with the control rats, there were a significant decline in lung function, a marked inflammatory infiltration and pulmonary parenchymal remodeling and the increases of IL-6, TNF-α and TGF-ß1 levels in BALF and lung tissue, but a lower expression of IL-10 in COPD rats. The iNOS mRNA and protein expression, as well as its optical density (OD), were increased significantly in lung tissue, while those of Arg-1 decreased significantly. H2 treatment improved the lung function and the parenchymal inflammation, reversed the increased levels of IL-6, TNF-α and TGF-ß1, and the lower IL-10. Meanwhile, H2 also down-regulated the expression of iNOS, but up-regulated expression of Arg-1 in lung tissue. Conclusion: H2 reduces inflammation in the lung of COPD, which may be related to its inhibition of M1 type polarization and activation of M2 type polarization of alveolar macrophage.

Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis.

Multiple morphological abnormalities of the sperm flagella (MMAF) is defined as deformities that cause sperm motility disorders, further resulting in male infertility. However, the reported genes related to sperm flagellar defects can only explain approximately 60% of human MMAF cases. Here, we report two novel compound heterozygous mutations, c.16246_16247insCCCAAATATCACC (p. T5416fs*7) and c.17323C > T (p.Q5774*), in the fibrous sheath-interacting protein 2 gene (FSIP2; OMIM: 615796) in an infertile patient by whole-exome sequencing (WES). Western blotting and immunofluorescence staining confirmed that the compound heterozygous mutations abrogated FSIP2 protein expression. Notably, our staining revealed that FSIP2 is expressed in the cytoplasm of primary germ cell and flagella of spermatids during the spermiogenesis. Moreover, intracytoplasmic sperm injection (ICSI) was carried out using sperm from this patient; however, pregnancy failed after embryo transfer through one cycle. Our findings may be helpful in establishing a genetic diagnosis for MMAF, as well as provide additional beneficial knowledge for genetic counseling and infertility treatment.

The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient.

PURPOSE: There are limited genes known to cause primary ciliary dyskinesia (PCD)-associated asthenozoospermia. In the present study, we aimed to expand the spectrum of mutations in PCD and to provide new information for genetic counseling diagnoses and the treatment of male infertility in PCD. METHODS: One sterile patient with typical situs inversus was recruited to our center, and semen sample was collected. We performed whole-exome sequencing (WES) on the patient to identify the pathogenic mutations associated with PCD and used transmission electron microscopy to investigate spermatozoal ultrastructure. In addition, western blotting and immunofluorescence staining were used to confirm the untoward impact of the variant on the expression of LRRC6, as well as on the dynein arm proteins in the patient's spermatozoa. RESULTS: We identified a homozygous nonsense variant c.749G>A (p.W250*) of LRRC6 in the PCD patient. This variant severely impaired LRRC6 expression and further led to negative effects on dynein arm protein expression in the spermatozoa of the affected individual, which eventually caused defects in sperm ultrastructure and motility. Moreover, we are the first to report a positive prognosis using intracytoplasmic sperm injection (ICSI) for LRRC6-associated male infertility. CONCLUSIONS: Our findings strongly implicated the homozygous mutation of c.749G>A (p.W250*) in LRRC6 as a new genetic cause of PCD, uncovering its involvement in defective sperm flagella and poor sperm motility. Furthermore, we posit that patients with LRRC6 mutations may have good outcomes with ICSI treatment. These findings add to the literature on the genetic diagnoses and treatment of male infertility associated with PCD.

Combustion Products of Calcium Carbide Reused by Cu-Based Catalysts for Acetylene Carbonylation.

Sustainable development is a worldwide concern. This work mainly focuses on the reuse of the combustion products of calcium carbide and the influence of different kinds of copper on the acetylene carbonylation reaction. A series of catalysts were prepared by heating the precursors under various atmospheres (air, hydrogen, and nitrogen). The X-ray diffraction and the X-ray photoelectron spectroscopy have been analyzed regarding copper species composition and content in catalysts. The result of the Cu+-promoted reaction was in good agreement with the conducted density functional theory analysis, and we speculate that Cu+ promotes the transfer of electrons in the reaction. Transmission electron microscopy and elemental mapping evaluation confirmed the difference in Cu dispersion. Characterization of catalysts using temperature programmed desorption and pyridine Fourier-transform infrared revealed differences in their acidity. Acidity was found to be favorable for acetylene carbonylation. Selectivity and yield of the CuAlZn-LDO(N) catalyst at 225 °C were 73 and 70%, respectively, and the catalyst showed good stability over two consecutive cycles of reuse.

Puncture and discission with a needle: A new method for laparoscopic common bile duct exploration.

This study aimed to describe a novel puncture and discission with a needle (PDN) method facilitating laparoscopic common bile duct exploration (LCBDE).The clinical data of 81 patients with cholelithiasis or choledocholithiasis who underwent LCBDE with PDN between January, 2017 and December, 2017 were retrospectively analyzed. Time for puncture and discission of the bile duct, blood loss, postoperative complications (such as bile leakage, common bile duct [CBD] strictures, and recurrence of choledocholithiasis), and postoperative hospital stay were recorded to evaluate the safety of the method.PDN was performed in all 81 patients with a 100% surgical success rate. Surgery went smoothly. Neither mortality nor complications associated with PDN (portal vein injury or biliary leakage) were observed. The mean time for puncture and discission of the CBD was 2.4 minutes and the maximum blood loss was 100 mL. CBD strictures or recurrence of choledocholithiasis were not noted after 12 to 24 months of follow-up.LCBDE with PDN is a novel method and has the advantages of reliability, convenience, and efficiency without additional costs or complications.

From UV to NIR: A Full-Spectrum Metal-Free Photocatalyst for Efficient Polymer Synthesis in Aqueous Conditions.

Photo-mediation offers unparalleled spatiotemporal control over controlled radical polymerizations (CRP). Photo-induced electron/energy transfer reversible addition-fragmentation chain transfer (PET-RAFT) polymerization is particularly versatile owing to its oxygen tolerance and wide range of compatible photocatalysts. In recent years, broadband- and near-infrared (NIR)-mediated polymerizations have been of particular interest owing to their potential for solar-driven chemistry and biomedical applications. In this work, we present the first example of a novel photocatalyst for both full broadband- and NIR-mediated CRP in aqueous conditions. Well-defined polymers were synthesized in water under blue, green, red, and NIR light irradiation. Exploiting the oxygen tolerant and aqueous nature of our system, we also report PET-RAFT polymerization at the microliter scale in a mammalian cell culture medium.