Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella(MMAF).Distinct projections encircling the central microtubules of the spermatozoal axoneme play p...Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella(MMAF).Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement.Mammalian sperm-associated antigen 17(SPAG17)encodes a conserved axonemal protein of cilia and flagella,forming part of the C1a projection of the central apparatus,with functions related to ciliary/flagellar motility,skeletal growth,and male fertility.This study investigated two novel homozygous SPAG17 mutations(M1:NM_206996.2,c.829+1G>T,p.Asp212_Glu276del;and M2:c.2120del,p.Leu707*)identified in four infertile patients from two consanguineous Pakistani families.These patients displayed the MMAF phenotype confirmed by Papanicolaou staining and scanning electron microscopy assays of spermatozoa.Quantitative real-time polymerase chain reaction(PCR)of patients’spermatozoa also revealed a significant decrease in SPAG17 mRNA expression,and immunofluorescence staining showed the absence of SPAG17 protein signals along the flagella.However,no apparent ciliary-related symptoms or skeletal malformations were observed in the chest X-rays of any of the patients.Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls.Immunofluorescence staining and Western blot analyses of spermatogenesis-associated protein 17(SPATA17),a component of the C1a projection,and sperm-associated antigen 6(SPAG6),a marker of the spring layer,revealed disrupted expression of both proteins in the patients’spermatozoa.Altogether,these findings demonstrated that SPAG17 maintains the integrity of spermatozoal flagellar axoneme,expanding the phenotypic spectrum of SPAG17 mutations in humans.展开更多
To investigate the correlation between propacetamol and postoperative liver enzyme abnormalities among patients,a retrospective analysis was conducted on inpatients in the thoracic surgery department spanning from Jan...To investigate the correlation between propacetamol and postoperative liver enzyme abnormalities among patients,a retrospective analysis was conducted on inpatients in the thoracic surgery department spanning from January 1 to June 30,2023.Causality assessment regarding propacetamol and postoperative liver enzyme abnormalities was performed using the updated Roussel Uclaf Causality Assessment Method(RUCAM).Furthermore,independent risk factors for liver enzyme abnormalities were identified through both univariate and multivariate analyses,followed by the construction and validation of a clinical nomogram.A total of 247 patients who received propacetamol were ultimately included in the study.Liver enzyme abnormalities post-surgery were more accurately predicted by considering the daily dose of propacetamol and the number of medications(OR(95%CI),4.831(2.797,8.344),P<0.001;10.007(3.878,25.823),P<0.001).A clinical predictive nomogram model was developed,incorporating these two independent risk factors,which exhibited favorable discrimination(AUC(95%CI),0.811(0.750,0.872)),calibration,and decision curve analysis(DCA)demonstrating the highest net benefits across a broad spectrum of threshold probabilities(10%to 90%).The daily dose of propacetamol and the number of medications were found to be independently associated with postoperative liver enzyme abnormalities.This user-friendly nomogram,comprising these two factors,might assist clinicians in assessing the risks of propacetamol-related liver dysfunction following surgery.展开更多
Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of lo...Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones.Many patients with CMD suffer from neurological symptoms.The pathogenesis of CMD is not fully understood.展开更多
Multiple morphological abnormalities of sperm flagella(MMAF)is a severe form of asthenoteratozoospermia,characterized by morphological abnormalities and reduced motility of sperm,causing male infertility.Although appr...Multiple morphological abnormalities of sperm flagella(MMAF)is a severe form of asthenoteratozoospermia,characterized by morphological abnormalities and reduced motility of sperm,causing male infertility.Although approximately 60%of MMAF cases can be explained genetically,the etiology of the remaining cases is unclear.Here,we identified two novel compound heterozygous variants in the gene,dynein axonemal heavy chain 10(DNAH10),in three patients from two unrelated Pakistani families using whole-exome sequencing(WES),including one compound heterozygous mutation(DNAH10:c.9409C>A[p.P3137T];c.12946G>C[p.D4316H])in family 1 and another compound heterozygous mutation(DNAH10:c.8849G>A[p.G2950D];c.11509C>T[p.R3687W])in family 2.All the identified variants are absent or rare in public genome databases and are predicted to have deleterious effects according to multiple bioinformatic tools.Sanger sequencing revealed that these variants follow an autosomal recessive mode of inheritance.Hematoxylin and eosin(H&E)staining revealed MMAF,including sperm head abnormalities,in the patients.In addition,immunofluorescence staining revealed loss of DNAH10 protein signals along sperm flagella.These findings broaden the spectrum of DNAH10 variants and expand understanding of the genetic basis of male infertility associated with the MMAF phenotype.展开更多
Cervical cancer is the fourth most common cancer worldwide, accounting for 6.8% of new cancer cases and 8.1% of cancer-related deaths. About 85% of these deaths occurred in low- and middle-income countries. The aim of...Cervical cancer is the fourth most common cancer worldwide, accounting for 6.8% of new cancer cases and 8.1% of cancer-related deaths. About 85% of these deaths occurred in low- and middle-income countries. The aim of this study was to assess the frequency and distribution of the human papillomavirus (HPV) genotypes in women showing cytological abnormalities of the cervix at the Sourô SANOU University Hospital (CHUSS) in Bobo-Dioulasso, Burkina Faso. This is a descriptive study of women recruited at the CHUSS. The cervico-uterine smear examination was carried out at the CHUSS Anatomy and Pathology Department for cervical cancer screening. The data were collected from women with atypical cells on their cervico-uterine smear. Cervicovaginal samples were taken from consenting women and HPV genotyping was performed using the HPV Direct FLOW CHIP kit at CERBA. We obtained approval from the ethics committee. The data were analyzed using the SPSS 26 software. The results of the study showed that 67.79% of the participants were aged between 50 and 65, a group that is particularly vulnerable to persistent infection with high-risk oncogenic HPV genotypes. Of the women screened, 40.7% were HPV positive and 29.2% had multiple infections. The most common genotypes were HPV 35, followed by HPV 18, 52, 58 and 66. These data highlight the need for increased surveillance and targeted prevention strategies among this female population.展开更多
Medically assisted reproduction(MAR)techniques are highly dependent on the sperm quantity and quality.Low sperm concentrations can be bypassed at least to some point by the usage of more sophisticated MAR techniques l...Medically assisted reproduction(MAR)techniques are highly dependent on the sperm quantity and quality.Low sperm concentrations can be bypassed at least to some point by the usage of more sophisticated MAR techniques like intracytoplasmic sperm injection(ICSI).Compared to this,disruptions in established indicators of sperm quality like motility or morphology pose greater challenges for the therapy of couple infertility.展开更多
Thermal power generation systems have stringent requirements for water and steam quality,i.e.,condensate water quality is one of the critical issues.In this paper,we designed a two-layer model based on an autoencoder ...Thermal power generation systems have stringent requirements for water and steam quality,i.e.,condensate water quality is one of the critical issues.In this paper,we designed a two-layer model based on an autoencoder and expert knowledge to achieve the early warning and causal analysis of condensate water quality abnormalities.An early warning model using an autoencoder model is built based on the historical data affecting the condensate water quality.Next,an analytical model of condensate water quality abnormalities was then developed by combining expert knowledge and trend test algorithms.Two different datasets were used to test the proposed model,respectively.The accuracy of the autoencoder model in the short-period test set is 88.83%,which shows that the early warning model can accurately analyze the condensate water quality data and achieve the purpose of early warning.For the long-time period test set,the model can correctly identify each abnormality and simultaneously indicates the cause of the abnormal condensate water quality.The proposed model can correctly identify abnormal working conditions and it is applicable to other thermal power plants.展开更多
Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patie...Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patients’blood pressure,they were divided into group A,group B,and group C,and all the data of hypertension patients in this study were collected,including age,gender,BMI,smoking,drinking,basic diseases(diabetes,cerebrovascular disease,hyperlipidemia,etc.),fasting blood glucose,ambulatory blood pressure(24-hour mean systolic pressure,24-hour mean diastolic pressure,daytime mean systolic pressure and daytime mean diastolic pressure).Results:There were significant differences in mean systolic blood pressure and mean diastolic blood pressure at night among group A,group B and group C(P<0.05).Age,hyperlipidemia and fasting blood glucose were risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium was a protective factor for circadian rhythm abnormality(P<0.05).Conclusion:Age,hyperlipidemia and fasting blood glucose are risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium is a protective factor for circadian rhythm abnormality(P<0.05).展开更多
BACKGROUND Research has shown that several factors can influence postoperative abnormal liver function;however,most studies on this issue have focused specifically on hepatic and cardiac surgeries,leaving limited rese...BACKGROUND Research has shown that several factors can influence postoperative abnormal liver function;however,most studies on this issue have focused specifically on hepatic and cardiac surgeries,leaving limited research on contributing factors in other types of surgeries.AIM To identify the risk factors for early postoperative abnormal liver function in multiple surgery types and construct a risk prediction model.METHODS This retrospective cohort study involved 3720 surgical patients from 5 surgical departments at Guangdong Provincial Hospital of Traditional Chinese Medicine.Patients were divided into abnormal(n=108)and normal(n=3612)groups based on liver function post-surgery.Univariate analysis and LASSO regression screened variables,followed by logistic regression to identify risk factors.A prediction model was constructed based on the variables selected via logistic re-gression.The goodness-of-fit of the model was evaluated using the Hosm-er–Lemeshow test,while discriminatory ability was measured by the area under the receiver operating characteristic curve.Calibration curves were plotted to visualize the consistency between predicted probabilities and observed outcomes.RESULTS The key factors contributing to abnormal liver function after surgery include elevated aspartate aminotransferase and alanine aminotransferase levels and reduced platelet counts pre-surgery,as well as the sevoflurane use during the procedure,among others.CONCLUSION The above factors collectively represent notable risk factors for postoperative liver function injury,and the prediction model developed based on these factors demonstrates strong predictive efficacy.展开更多
Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patie...Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patients'blood pressure,they were divided into Group A,Group B and Group C,and all the data of hypertension patients in this study were collected,including age,gender,BMI,smoking,drinking,basic diseases(diabetes,cerebrovascular disease,hyperlipidemia,etc.),fasting blood glucose,ambulatory blood pressure(24-hour mean systolic pressure,24-hour mean diastolic pressure,daytime mean systolic pressure and daytime mean diastolic pressure).Results:There were significant differences in mean systolic blood pressure and mean diastolic blood pressure at night among Group A,Group B and Group C(P<0.05).Age,hyperlipidemia and fasting blood glucose were risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium was a protective factor for circadian rhythm abnormality(P<0.05).Conclusion:Age,hyperlipidemia and fasting blood glucose are risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium is a protective factor for circadian rhythm abnormality(P<0.05).展开更多
Objective:To explore the positive significance of using prenatal B-ultrasound in diagnosing fetal abnormalities.Methods:A total of 200 pregnant women who visited Shaanxi Provincial People’s Hospital between January 2...Objective:To explore the positive significance of using prenatal B-ultrasound in diagnosing fetal abnormalities.Methods:A total of 200 pregnant women who visited Shaanxi Provincial People’s Hospital between January 2023 and January 2024 were recruited as the research subjects.All pregnant women received prenatal examinations.A retrospective analysis was carried out to analyze the positive significance of prenatal B-ultrasound examination in the diagnosis of fetal abnormalities.Results:Prenatal B-ultrasound examination detected 10 cases of fetal abnormalities,with a detection rate of 5.00%.When compared with the postnatal examination results of 5.50%,the difference was insignificant(P>0.05).Moreover,comparing the fetal limb abnormalities and cardiovascular abnormalities in prenatal B-ultrasound examination and postnatal examination,one case of congenital heart disease was missed in the prenatal B-ultrasound examination,and the others were consistent with the postnatal examination results,with a coincidence rate of 90.91%,indicating a high compliance rate.Conclusion:Fetal abnormalities have a great impact on mothers,babies,and families,and it is particularly important to strengthen diagnosis during this process.Prenatal B-ultrasound examination can improve the accuracy of diagnosis of fetal abnormalities and can be promoted in clinical practice as a basis for screening fetal abnormalities.展开更多
Objective Cognitive impairment(CI)in older individuals has a high morbidity rate worldwide,with poor diagnostic methods and susceptible population identification.This study aimed to investigate the relationship betwee...Objective Cognitive impairment(CI)in older individuals has a high morbidity rate worldwide,with poor diagnostic methods and susceptible population identification.This study aimed to investigate the relationship between different retinal metrics and CI in a particular population,emphasizing polyvascular status.Methods We collected information from the Asymptomatic Polyvascular Abnormalities Community Study on retinal vessel calibers,retinal nerve fiber layer(RNFL)thickness,and cognitive function of 3,785participants,aged 40 years or older.Logistic regression was used to analyze the relationship between retinal metrics and cognitive function.Subgroups stratified by different vascular statuses were also analyzed.Results RNFL thickness was significantly thinner in the CI group(odds ratio:0.973,95%confidence interval:0.953–0.994).In the subgroup analysis,the difference still existed in the non-intracranial arterial stenosis,non-extracranial carotid arterial stenosis,and peripheral arterial disease subgroups(P<0.05).Conclusion A thin RNFL is associated with CI,especially in people with non-large vessel stenosis.The underlying small vessel change in RNFL and CI should be investigated in the future.展开更多
AIM: To investigate the relationship between gastric dysmotility,gastrointestinal hormone abnormalities, and neuroendocrine cells in gastrointestinal mucosa in patients with functional dyspepsia (FD).METHODS: Gastric ...AIM: To investigate the relationship between gastric dysmotility,gastrointestinal hormone abnormalities, and neuroendocrine cells in gastrointestinal mucosa in patients with functional dyspepsia (FD).METHODS: Gastric emptying was assessed with solid radiopaque markers in 54 FD patients, and the patients were divided into two groups according to the results, one with delayed gastric emptying and the other with normal gastric emptying. Seventeen healthy volunteers acted as normal controls. Fasting and postprandial plasma levels and gastroduodenal mucosal levels of gastrointestinal hormones gastrin, somatostatin (SS) and neurotensin (NT)were measured by radioimmunoassay in all the subjects.G cells (gastrin-producing cells) and D cells (SS-producing cells) in gastric antral mucosa were immunostained with rabbit anti-gastrin polyclonal antibody and rabbit anti-SS polyclonal antibody, respectively, and analyzed quantitatively by computerized image analysis.RESULTS: The postprandial plasma gastrin levels, the fasting and postprandial plasma levels and the gastric and duodenal mucosal levels of NT were significantly higher in the FD patients with delayed gastric emptying than in those with normal gastric emptying and normal controls. The number and gray value of G and D cells and the G cell/D cell number ratio did not differ significantly between normal controls and the FD patients with or without delayed gastric emptying.CONCLUSION: Our findings suggest that the abnormalities of gastrin and NT may play a role in the pathophysiology of gastric dysmotility in FD patients, and the abnormality of postprandial plasma gastrin levels in FD patients with delayed gastric emptying is not related to the changes both in the number and gray value of G cells and in the G cell/D cell number ratio in gastric antral mucosa.展开更多
Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected ...Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number(agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography(US) is typically the first imaging performed as it is easily available, noninvasive and radiation free used both antenatally and postnatally. Computed tomography(CT) and magnetic resonance imaging(MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management.展开更多
Dexamethasone has been widely used after various neurosurgical procedures due to its anti-inflammatory property and the abilities to restore vascular permeability,inhibit free radicals,and reduce cerebrospinal fluid p...Dexamethasone has been widely used after various neurosurgical procedures due to its anti-inflammatory property and the abilities to restore vascular permeability,inhibit free radicals,and reduce cerebrospinal fluid production.According to the latest guidelines for the treatment of traumatic brain injury in the United States,high-dose glucocorticoids cause neurological damage.To investigate the reason why high-dose glucocorticoids after traumatic brain injury exhibit harmful effect,rat controlled cortical impact models of traumatic brain injury were established.At 1 hour and 2 days after surgery,rat models were intraperitoneally administered dexamethasone 10 mg/kg.The results revealed that 31 proteins were significantly upregulated and 12 proteins were significantly downregulated in rat models of traumatic brain injury after dexamethasone treatment.The Ingenuity Pathway Analysis results showed that differentially expressed proteins were enriched in the mitochondrial dysfunction pathway and synaptogenesis signaling pathway.Western blot analysis and immunohistochemistry results showed that Ndufv2,Maob and Gria3 expression and positive cell count in the dexamethasone-treated group were significantly greater than those in the model group.These findings suggest that dexamethasone may promote a compensatory increase in complex I subunits(Ndufs2 and Ndufv2),increase the expression of mitochondrial enzyme Maob,and upregulate synaptic-transmission-related protein Gria3.These changes may be caused by nerve injury after traumatic brain injury treatment by dexamethasone.The study was approved by Institutional Ethics Committee of Beijing Neurosurgical Institute(approval No.201802001)on June 6,2018.展开更多
Orthostatic intolerance(OI)is a series of clinical symptoms that develop during long-term standing in the upright position,with clinical manifestations of frequent,recurrent,or persistent dizziness,fatigue,and heart p...Orthostatic intolerance(OI)is a series of clinical symptoms that develop during long-term standing in the upright position,with clinical manifestations of frequent,recurrent,or persistent dizziness,fatigue,and heart palpitations with or without syncope.展开更多
Chromosome abnormalities are one of the major causes of human infertility. In infertile males, abnormal karyotypes are more frequent than in the general population. Furthermore, meiotic disorders affecting the germ ce...Chromosome abnormalities are one of the major causes of human infertility. In infertile males, abnormal karyotypes are more frequent than in the general population. Furthermore, meiotic disorders affecting the germ cell-line have been observed in men with normal somatic karyotypes consulting for infertility. In both cases, the production of unbalanced spermatozoa has been demonstrated. Basically addressed to establish reproductive risks, fluorescence in situ hybridization （FISH） on decondensed sperm heads has become the most frequently used method to evaluate the chromosomal constitution of spermatozoa in carriers of numerical sex chromosome abnormalities, carriers of structural chromosome reorganizations and infertile males with normal karyotype. The aim of this review is to present updated figures of the information obtained through sperm FISH studies with an emphasis on its clinical significance. Furthermore, the incorporation of novel FISH-based techniques （Multiplex-FISH; Multi-FISH） in male infertility studies is also discussed. （Asian J Androl 2005 Sep; 7： 227-236）展开更多
Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants （CNVs） in products ...Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants （CNVs） in products of conception （POC） and the underlying gene- dosage-sensitive mechanisms causing spontaneous abortions remain largely unknown. In this study, array comparative genornic hybridiza- tion （aCGH） analysis was performed as a salvage procedure for 128 POC culture failure （POC-CF） samples and as a supplemental procedure for 106 POC normal karyotype （POC-NK） samples. Chromosomal abnormalities were detected in 10% of POC-CF and pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. Compiled results from this study and relevant case series through a literature review demonstrated an abnormality detection rate （ADR） of 35% for chromosomal abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis （IPA） was performed on the genes from pathogenic CNVs found in POC samples. The denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in miscarriage. In summary, a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples. A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomai trisomy is proposed. A rationalized approach using firstly fluorescence in situ hybridization （FISH） testing with probes of chromosomes X/Y/ 18, 13/21, and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples.展开更多
·AIM: To characterize the clinical features of ocular surface in gout patients in coastal area of Shandong Province in China. ·METHODS: A total of 380 consecutive gout patients were examined from January 201...·AIM: To characterize the clinical features of ocular surface in gout patients in coastal area of Shandong Province in China. ·METHODS: A total of 380 consecutive gout patients were examined from January 2011 to May 2011. According to the course of gout, patients were divided into group A (【5 years), B (5 -10 years) and C (】10 years). Group D (control group) was consist of 50 healthy subjects. Eyelids, lateral canthus, medial canthus, palpebral conjunctiva, sclera and cornea, anterior chamber, lens, anterior vitreous were examined by slit lamp to find whether there were deposition of uric acid crystals, ocular vascular tortuosity, redness and subconjunctival hemorrhage. The ophthalmic exams of visual acuity, intraocular pressure, fundus were used to assess any gout-related eye disease. ·RESULTS: Uric acid crystals were found in 3 patients and the positions of the deposite were in corneal stroma, corneal epithelium and superficial stroma, and sclera respectively. The incidence was 0.79% . Dilatated and tortuous blood vessels in conjunctiva and sclera surface were found in 38 (23.8% ), 40 (44.0% ), 58 (45.0% ), 9 (18.0% ) patients in groups A, B, C and D, respectively. The differences between group B and D, group C and D were statistically significant( 【0.01, 【0.01).Transparent vesicles with metal -like reflected light in subconjunctiva were seen in 26 (16.2%), 29 (31.9%), 41 (31.8%), 2 (4.00%) patients in groups A, B, C and D, respectively. The differences between A and D, B and D, C and D were statistically significant ( 【0.05, 【0.01, 【0.01). Subconjunctival hemorrhage was found in all groups, the difference among the four groups showed no statistically significance. · CONCLUSION: Gout can cause ocular surface abnormalities, such as tophi deposition, subconjunctival transparent vesicles and hemorrhage, and vascular changes. These features have important clinical significance in early detection of the gout and prevention of eye injury. ·展开更多
Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF ...Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF cases remain unclear.To reveal the genetic causes of MMAF in an infertile patient,whole-exome sequencing was performed to screen for pathogenic genes,and electron microscope was used to reveal the sperm flagellar ultrastructure.A novel heterozygous missense mutation in the outer dense fiber protein 2(ODF2)gene was detected,which was inherited from the patient’s mother and predicted to be potentially damaging.Transmission electron microscopy revealed that the outer dense fibers were defective in the patient’s sperm tail,which was similar to that of the reported heterozygous Odf2 mutation mouse.Immunostaining of ODF2 showed severe ODF2 expression defects in the patient’s sperm.Therefore,it was concluded that the heterozygous mutation in ODF2 caused MMAF in this case.To evaluate the possibility of assisted reproductive technology(ART)treatment for this patient,intracytoplasmic sperm injection(ICSI)was performed,with the help of a hypo-osmotic swelling test and laser-assisted immotile sperm selection(LAISS)for available sperm screening,and artificial oocyte activation with ionomycin was applied to improve the fertilization rate.Four ICSI cycles were performed,and live birth was achieved in the LAISS-applied cycle,suggesting that LAISS would be valuable in ART treatment for MMAF.展开更多
基金supported by the National Natural Science Foundation of China(No.82171599 and No.32270901)the National Key Research and Developmental Program of China(2022YFC2702601 and 2022YFA0806303)the Global Select Project(DJKLX-2022010)of the Institute of Health and Medicine,Hefei Comprehensive National Science Center.
文摘Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella(MMAF).Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement.Mammalian sperm-associated antigen 17(SPAG17)encodes a conserved axonemal protein of cilia and flagella,forming part of the C1a projection of the central apparatus,with functions related to ciliary/flagellar motility,skeletal growth,and male fertility.This study investigated two novel homozygous SPAG17 mutations(M1:NM_206996.2,c.829+1G>T,p.Asp212_Glu276del;and M2:c.2120del,p.Leu707*)identified in four infertile patients from two consanguineous Pakistani families.These patients displayed the MMAF phenotype confirmed by Papanicolaou staining and scanning electron microscopy assays of spermatozoa.Quantitative real-time polymerase chain reaction(PCR)of patients’spermatozoa also revealed a significant decrease in SPAG17 mRNA expression,and immunofluorescence staining showed the absence of SPAG17 protein signals along the flagella.However,no apparent ciliary-related symptoms or skeletal malformations were observed in the chest X-rays of any of the patients.Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls.Immunofluorescence staining and Western blot analyses of spermatogenesis-associated protein 17(SPATA17),a component of the C1a projection,and sperm-associated antigen 6(SPAG6),a marker of the spring layer,revealed disrupted expression of both proteins in the patients’spermatozoa.Altogether,these findings demonstrated that SPAG17 maintains the integrity of spermatozoal flagellar axoneme,expanding the phenotypic spectrum of SPAG17 mutations in humans.
基金The Medical Education Research Program of Henan Province,China(Grant No.WJLX2023015)and the Chinese International Medical Foundation for Clinical Pharmacy,China(Grant No.Z-2021-46-2101).
文摘To investigate the correlation between propacetamol and postoperative liver enzyme abnormalities among patients,a retrospective analysis was conducted on inpatients in the thoracic surgery department spanning from January 1 to June 30,2023.Causality assessment regarding propacetamol and postoperative liver enzyme abnormalities was performed using the updated Roussel Uclaf Causality Assessment Method(RUCAM).Furthermore,independent risk factors for liver enzyme abnormalities were identified through both univariate and multivariate analyses,followed by the construction and validation of a clinical nomogram.A total of 247 patients who received propacetamol were ultimately included in the study.Liver enzyme abnormalities post-surgery were more accurately predicted by considering the daily dose of propacetamol and the number of medications(OR(95%CI),4.831(2.797,8.344),P<0.001;10.007(3.878,25.823),P<0.001).A clinical predictive nomogram model was developed,incorporating these two independent risk factors,which exhibited favorable discrimination(AUC(95%CI),0.811(0.750,0.872)),calibration,and decision curve analysis(DCA)demonstrating the highest net benefits across a broad spectrum of threshold probabilities(10%to 90%).The daily dose of propacetamol and the number of medications were found to be independently associated with postoperative liver enzyme abnormalities.This user-friendly nomogram,comprising these two factors,might assist clinicians in assessing the risks of propacetamol-related liver dysfunction following surgery.
基金supported by NIH/NIDCR grant R01DE025664 to IPC.
文摘Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones.Many patients with CMD suffer from neurological symptoms.The pathogenesis of CMD is not fully understood.
基金supported by the National Natural Science Foundation of China(No.32100689)the National Key Research and Development Program of China(No.2021YFC2700202,No.2022YFA0806303,and No.2022YFC2702601)+1 种基金the Global Select Project(No.DJK-LX-2022010)of the Institute of Health and MedicineHefei Comprehensive National Science Center,and the Joint Fund for New Medicine of USTC(No.YD9100002034).
文摘Multiple morphological abnormalities of sperm flagella(MMAF)is a severe form of asthenoteratozoospermia,characterized by morphological abnormalities and reduced motility of sperm,causing male infertility.Although approximately 60%of MMAF cases can be explained genetically,the etiology of the remaining cases is unclear.Here,we identified two novel compound heterozygous variants in the gene,dynein axonemal heavy chain 10(DNAH10),in three patients from two unrelated Pakistani families using whole-exome sequencing(WES),including one compound heterozygous mutation(DNAH10:c.9409C>A[p.P3137T];c.12946G>C[p.D4316H])in family 1 and another compound heterozygous mutation(DNAH10:c.8849G>A[p.G2950D];c.11509C>T[p.R3687W])in family 2.All the identified variants are absent or rare in public genome databases and are predicted to have deleterious effects according to multiple bioinformatic tools.Sanger sequencing revealed that these variants follow an autosomal recessive mode of inheritance.Hematoxylin and eosin(H&E)staining revealed MMAF,including sperm head abnormalities,in the patients.In addition,immunofluorescence staining revealed loss of DNAH10 protein signals along sperm flagella.These findings broaden the spectrum of DNAH10 variants and expand understanding of the genetic basis of male infertility associated with the MMAF phenotype.
文摘Cervical cancer is the fourth most common cancer worldwide, accounting for 6.8% of new cancer cases and 8.1% of cancer-related deaths. About 85% of these deaths occurred in low- and middle-income countries. The aim of this study was to assess the frequency and distribution of the human papillomavirus (HPV) genotypes in women showing cytological abnormalities of the cervix at the Sourô SANOU University Hospital (CHUSS) in Bobo-Dioulasso, Burkina Faso. This is a descriptive study of women recruited at the CHUSS. The cervico-uterine smear examination was carried out at the CHUSS Anatomy and Pathology Department for cervical cancer screening. The data were collected from women with atypical cells on their cervico-uterine smear. Cervicovaginal samples were taken from consenting women and HPV genotyping was performed using the HPV Direct FLOW CHIP kit at CERBA. We obtained approval from the ethics committee. The data were analyzed using the SPSS 26 software. The results of the study showed that 67.79% of the participants were aged between 50 and 65, a group that is particularly vulnerable to persistent infection with high-risk oncogenic HPV genotypes. Of the women screened, 40.7% were HPV positive and 29.2% had multiple infections. The most common genotypes were HPV 35, followed by HPV 18, 52, 58 and 66. These data highlight the need for increased surveillance and targeted prevention strategies among this female population.
文摘Medically assisted reproduction(MAR)techniques are highly dependent on the sperm quantity and quality.Low sperm concentrations can be bypassed at least to some point by the usage of more sophisticated MAR techniques like intracytoplasmic sperm injection(ICSI).Compared to this,disruptions in established indicators of sperm quality like motility or morphology pose greater challenges for the therapy of couple infertility.
基金supported by the Jingneng Shiyan Thermal Power Co.,Ltd.(TPRI/TR-CA-006-2023)Huaihe Energy Power Group Co.,Ltd.(TPRI/TR-CA-040-2023)Xi'an Thermal Power Research Institute Co.,Ltd.(TPRI/TR-CA-110-2021A/H1).
文摘Thermal power generation systems have stringent requirements for water and steam quality,i.e.,condensate water quality is one of the critical issues.In this paper,we designed a two-layer model based on an autoencoder and expert knowledge to achieve the early warning and causal analysis of condensate water quality abnormalities.An early warning model using an autoencoder model is built based on the historical data affecting the condensate water quality.Next,an analytical model of condensate water quality abnormalities was then developed by combining expert knowledge and trend test algorithms.Two different datasets were used to test the proposed model,respectively.The accuracy of the autoencoder model in the short-period test set is 88.83%,which shows that the early warning model can accurately analyze the condensate water quality data and achieve the purpose of early warning.For the long-time period test set,the model can correctly identify each abnormality and simultaneously indicates the cause of the abnormal condensate water quality.The proposed model can correctly identify abnormal working conditions and it is applicable to other thermal power plants.
文摘Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patients’blood pressure,they were divided into group A,group B,and group C,and all the data of hypertension patients in this study were collected,including age,gender,BMI,smoking,drinking,basic diseases(diabetes,cerebrovascular disease,hyperlipidemia,etc.),fasting blood glucose,ambulatory blood pressure(24-hour mean systolic pressure,24-hour mean diastolic pressure,daytime mean systolic pressure and daytime mean diastolic pressure).Results:There were significant differences in mean systolic blood pressure and mean diastolic blood pressure at night among group A,group B and group C(P<0.05).Age,hyperlipidemia and fasting blood glucose were risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium was a protective factor for circadian rhythm abnormality(P<0.05).Conclusion:Age,hyperlipidemia and fasting blood glucose are risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium is a protective factor for circadian rhythm abnormality(P<0.05).
基金Supported by Guangdong Provincial Hospital of Chinese Medicine Science and Technology Research Special Project,No.YN2023WSSQ01State Key Laboratory of Traditional Chinese Medicine Syndrome.
文摘BACKGROUND Research has shown that several factors can influence postoperative abnormal liver function;however,most studies on this issue have focused specifically on hepatic and cardiac surgeries,leaving limited research on contributing factors in other types of surgeries.AIM To identify the risk factors for early postoperative abnormal liver function in multiple surgery types and construct a risk prediction model.METHODS This retrospective cohort study involved 3720 surgical patients from 5 surgical departments at Guangdong Provincial Hospital of Traditional Chinese Medicine.Patients were divided into abnormal(n=108)and normal(n=3612)groups based on liver function post-surgery.Univariate analysis and LASSO regression screened variables,followed by logistic regression to identify risk factors.A prediction model was constructed based on the variables selected via logistic re-gression.The goodness-of-fit of the model was evaluated using the Hosm-er–Lemeshow test,while discriminatory ability was measured by the area under the receiver operating characteristic curve.Calibration curves were plotted to visualize the consistency between predicted probabilities and observed outcomes.RESULTS The key factors contributing to abnormal liver function after surgery include elevated aspartate aminotransferase and alanine aminotransferase levels and reduced platelet counts pre-surgery,as well as the sevoflurane use during the procedure,among others.CONCLUSION The above factors collectively represent notable risk factors for postoperative liver function injury,and the prediction model developed based on these factors demonstrates strong predictive efficacy.
文摘Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patients'blood pressure,they were divided into Group A,Group B and Group C,and all the data of hypertension patients in this study were collected,including age,gender,BMI,smoking,drinking,basic diseases(diabetes,cerebrovascular disease,hyperlipidemia,etc.),fasting blood glucose,ambulatory blood pressure(24-hour mean systolic pressure,24-hour mean diastolic pressure,daytime mean systolic pressure and daytime mean diastolic pressure).Results:There were significant differences in mean systolic blood pressure and mean diastolic blood pressure at night among Group A,Group B and Group C(P<0.05).Age,hyperlipidemia and fasting blood glucose were risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium was a protective factor for circadian rhythm abnormality(P<0.05).Conclusion:Age,hyperlipidemia and fasting blood glucose are risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium is a protective factor for circadian rhythm abnormality(P<0.05).
文摘Objective:To explore the positive significance of using prenatal B-ultrasound in diagnosing fetal abnormalities.Methods:A total of 200 pregnant women who visited Shaanxi Provincial People’s Hospital between January 2023 and January 2024 were recruited as the research subjects.All pregnant women received prenatal examinations.A retrospective analysis was carried out to analyze the positive significance of prenatal B-ultrasound examination in the diagnosis of fetal abnormalities.Results:Prenatal B-ultrasound examination detected 10 cases of fetal abnormalities,with a detection rate of 5.00%.When compared with the postnatal examination results of 5.50%,the difference was insignificant(P>0.05).Moreover,comparing the fetal limb abnormalities and cardiovascular abnormalities in prenatal B-ultrasound examination and postnatal examination,one case of congenital heart disease was missed in the prenatal B-ultrasound examination,and the others were consistent with the postnatal examination results,with a coincidence rate of 90.91%,indicating a high compliance rate.Conclusion:Fetal abnormalities have a great impact on mothers,babies,and families,and it is particularly important to strengthen diagnosis during this process.Prenatal B-ultrasound examination can improve the accuracy of diagnosis of fetal abnormalities and can be promoted in clinical practice as a basis for screening fetal abnormalities.
基金supported by National Natural Science Foundation of China(No.82001239)Beijing Hospitals Authority Innovation Studio of Young Staff Funding Support,code(NO.202112)。
文摘Objective Cognitive impairment(CI)in older individuals has a high morbidity rate worldwide,with poor diagnostic methods and susceptible population identification.This study aimed to investigate the relationship between different retinal metrics and CI in a particular population,emphasizing polyvascular status.Methods We collected information from the Asymptomatic Polyvascular Abnormalities Community Study on retinal vessel calibers,retinal nerve fiber layer(RNFL)thickness,and cognitive function of 3,785participants,aged 40 years or older.Logistic regression was used to analyze the relationship between retinal metrics and cognitive function.Subgroups stratified by different vascular statuses were also analyzed.Results RNFL thickness was significantly thinner in the CI group(odds ratio:0.973,95%confidence interval:0.953–0.994).In the subgroup analysis,the difference still existed in the non-intracranial arterial stenosis,non-extracranial carotid arterial stenosis,and peripheral arterial disease subgroups(P<0.05).Conclusion A thin RNFL is associated with CI,especially in people with non-large vessel stenosis.The underlying small vessel change in RNFL and CI should be investigated in the future.
文摘AIM: To investigate the relationship between gastric dysmotility,gastrointestinal hormone abnormalities, and neuroendocrine cells in gastrointestinal mucosa in patients with functional dyspepsia (FD).METHODS: Gastric emptying was assessed with solid radiopaque markers in 54 FD patients, and the patients were divided into two groups according to the results, one with delayed gastric emptying and the other with normal gastric emptying. Seventeen healthy volunteers acted as normal controls. Fasting and postprandial plasma levels and gastroduodenal mucosal levels of gastrointestinal hormones gastrin, somatostatin (SS) and neurotensin (NT)were measured by radioimmunoassay in all the subjects.G cells (gastrin-producing cells) and D cells (SS-producing cells) in gastric antral mucosa were immunostained with rabbit anti-gastrin polyclonal antibody and rabbit anti-SS polyclonal antibody, respectively, and analyzed quantitatively by computerized image analysis.RESULTS: The postprandial plasma gastrin levels, the fasting and postprandial plasma levels and the gastric and duodenal mucosal levels of NT were significantly higher in the FD patients with delayed gastric emptying than in those with normal gastric emptying and normal controls. The number and gray value of G and D cells and the G cell/D cell number ratio did not differ significantly between normal controls and the FD patients with or without delayed gastric emptying.CONCLUSION: Our findings suggest that the abnormalities of gastrin and NT may play a role in the pathophysiology of gastric dysmotility in FD patients, and the abnormality of postprandial plasma gastrin levels in FD patients with delayed gastric emptying is not related to the changes both in the number and gray value of G cells and in the G cell/D cell number ratio in gastric antral mucosa.
文摘Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number(agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography(US) is typically the first imaging performed as it is easily available, noninvasive and radiation free used both antenatally and postnatally. Computed tomography(CT) and magnetic resonance imaging(MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management.
基金This study was supported by the National Natural Science Foundation of China,No.81771327(to BYL)the Platform Construction of Basic Research and Clinical Translation of Nervous System Injury,China,No.PXM2020_026280_000002(to BYL)the Scientific Research and Cultivation Fund of the Beijing Neurosurgical Institute,China,No.2020002(to FN).
文摘Dexamethasone has been widely used after various neurosurgical procedures due to its anti-inflammatory property and the abilities to restore vascular permeability,inhibit free radicals,and reduce cerebrospinal fluid production.According to the latest guidelines for the treatment of traumatic brain injury in the United States,high-dose glucocorticoids cause neurological damage.To investigate the reason why high-dose glucocorticoids after traumatic brain injury exhibit harmful effect,rat controlled cortical impact models of traumatic brain injury were established.At 1 hour and 2 days after surgery,rat models were intraperitoneally administered dexamethasone 10 mg/kg.The results revealed that 31 proteins were significantly upregulated and 12 proteins were significantly downregulated in rat models of traumatic brain injury after dexamethasone treatment.The Ingenuity Pathway Analysis results showed that differentially expressed proteins were enriched in the mitochondrial dysfunction pathway and synaptogenesis signaling pathway.Western blot analysis and immunohistochemistry results showed that Ndufv2,Maob and Gria3 expression and positive cell count in the dexamethasone-treated group were significantly greater than those in the model group.These findings suggest that dexamethasone may promote a compensatory increase in complex I subunits(Ndufs2 and Ndufv2),increase the expression of mitochondrial enzyme Maob,and upregulate synaptic-transmission-related protein Gria3.These changes may be caused by nerve injury after traumatic brain injury treatment by dexamethasone.The study was approved by Institutional Ethics Committee of Beijing Neurosurgical Institute(approval No.201802001)on June 6,2018.
文摘Orthostatic intolerance(OI)is a series of clinical symptoms that develop during long-term standing in the upright position,with clinical manifestations of frequent,recurrent,or persistent dizziness,fatigue,and heart palpitations with or without syncope.
文摘Chromosome abnormalities are one of the major causes of human infertility. In infertile males, abnormal karyotypes are more frequent than in the general population. Furthermore, meiotic disorders affecting the germ cell-line have been observed in men with normal somatic karyotypes consulting for infertility. In both cases, the production of unbalanced spermatozoa has been demonstrated. Basically addressed to establish reproductive risks, fluorescence in situ hybridization （FISH） on decondensed sperm heads has become the most frequently used method to evaluate the chromosomal constitution of spermatozoa in carriers of numerical sex chromosome abnormalities, carriers of structural chromosome reorganizations and infertile males with normal karyotype. The aim of this review is to present updated figures of the information obtained through sperm FISH studies with an emphasis on its clinical significance. Furthermore, the incorporation of novel FISH-based techniques （Multiplex-FISH; Multi-FISH） in male infertility studies is also discussed. （Asian J Androl 2005 Sep; 7： 227-236）
基金partially supported by Guangdong Innovative and Entrepreneurial Research Team Program (No. 201301S0105240297)by 111 Project
文摘Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants （CNVs） in products of conception （POC） and the underlying gene- dosage-sensitive mechanisms causing spontaneous abortions remain largely unknown. In this study, array comparative genornic hybridiza- tion （aCGH） analysis was performed as a salvage procedure for 128 POC culture failure （POC-CF） samples and as a supplemental procedure for 106 POC normal karyotype （POC-NK） samples. Chromosomal abnormalities were detected in 10% of POC-CF and pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. Compiled results from this study and relevant case series through a literature review demonstrated an abnormality detection rate （ADR） of 35% for chromosomal abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis （IPA） was performed on the genes from pathogenic CNVs found in POC samples. The denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in miscarriage. In summary, a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples. A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomai trisomy is proposed. A rationalized approach using firstly fluorescence in situ hybridization （FISH） testing with probes of chromosomes X/Y/ 18, 13/21, and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples.
文摘·AIM: To characterize the clinical features of ocular surface in gout patients in coastal area of Shandong Province in China. ·METHODS: A total of 380 consecutive gout patients were examined from January 2011 to May 2011. According to the course of gout, patients were divided into group A (【5 years), B (5 -10 years) and C (】10 years). Group D (control group) was consist of 50 healthy subjects. Eyelids, lateral canthus, medial canthus, palpebral conjunctiva, sclera and cornea, anterior chamber, lens, anterior vitreous were examined by slit lamp to find whether there were deposition of uric acid crystals, ocular vascular tortuosity, redness and subconjunctival hemorrhage. The ophthalmic exams of visual acuity, intraocular pressure, fundus were used to assess any gout-related eye disease. ·RESULTS: Uric acid crystals were found in 3 patients and the positions of the deposite were in corneal stroma, corneal epithelium and superficial stroma, and sclera respectively. The incidence was 0.79% . Dilatated and tortuous blood vessels in conjunctiva and sclera surface were found in 38 (23.8% ), 40 (44.0% ), 58 (45.0% ), 9 (18.0% ) patients in groups A, B, C and D, respectively. The differences between group B and D, group C and D were statistically significant( 【0.01, 【0.01).Transparent vesicles with metal -like reflected light in subconjunctiva were seen in 26 (16.2%), 29 (31.9%), 41 (31.8%), 2 (4.00%) patients in groups A, B, C and D, respectively. The differences between A and D, B and D, C and D were statistically significant ( 【0.05, 【0.01, 【0.01). Subconjunctival hemorrhage was found in all groups, the difference among the four groups showed no statistically significance. · CONCLUSION: Gout can cause ocular surface abnormalities, such as tophi deposition, subconjunctival transparent vesicles and hemorrhage, and vascular changes. These features have important clinical significance in early detection of the gout and prevention of eye injury. ·
基金supported by grant from the National Key Research and Development Program of China(No.2017YFC1002003).
文摘Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF cases remain unclear.To reveal the genetic causes of MMAF in an infertile patient,whole-exome sequencing was performed to screen for pathogenic genes,and electron microscope was used to reveal the sperm flagellar ultrastructure.A novel heterozygous missense mutation in the outer dense fiber protein 2(ODF2)gene was detected,which was inherited from the patient’s mother and predicted to be potentially damaging.Transmission electron microscopy revealed that the outer dense fibers were defective in the patient’s sperm tail,which was similar to that of the reported heterozygous Odf2 mutation mouse.Immunostaining of ODF2 showed severe ODF2 expression defects in the patient’s sperm.Therefore,it was concluded that the heterozygous mutation in ODF2 caused MMAF in this case.To evaluate the possibility of assisted reproductive technology(ART)treatment for this patient,intracytoplasmic sperm injection(ICSI)was performed,with the help of a hypo-osmotic swelling test and laser-assisted immotile sperm selection(LAISS)for available sperm screening,and artificial oocyte activation with ionomycin was applied to improve the fertilization rate.Four ICSI cycles were performed,and live birth was achieved in the LAISS-applied cycle,suggesting that LAISS would be valuable in ART treatment for MMAF.
