Objective To study the effect and mechanism of estradiol (E

Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability of male patients, and genetic defects have been recognized as the main cause of acephalic spermatozoa syndrome. Spermatogenesis and centriole-associated 1 like (SPATC1L) is indispensable for maintaining the integrity of sperm head-to-tail connections in mice, but its roles in human sperm and early embryonic development remain largely unknown. Herein, we conducted whole-exome sequencing (WES) of 22 infertile men with acephalic spermatozoa syndrome. An in silico analysis of the candidate variants was conducted, and WES data analysis was performed using another cohort consisting of 34 patients with acephalic spermatozoa syndrome and 25 control subjects with proven fertility. We identified biallelic mutations in SPATC1L (c.910C>T:p.Arg304Cys and c.994G>T:p.Glu332X) from a patient whose sperm displayed complete acephalia. Both SPATC1L variants are rare and deleterious. SPATC1L is mainly expressed at the head-tail junction of elongating spermatids. Plasmids containing pathogenic variants decreased the level of SPATC1L in vitro. Moreover, none of the patient's four attempts at intracytoplasmic sperm injection (ICSI) resulted in a transplantable embryo, which suggests that SPATC1L defects might affect early embryonic development. In conclusion, this study provides the first identification of SPATC1L as a novel gene for human acephalic spermatozoa syndrome. Furthermore, WES might be applied for patients with acephalic spermatozoa syndrome who exhibit reiterative ICSI failures.
Centrioles/genetics* ; Homozygote ; Humans ; Infertility, Male/genetics* ; Male ; Mutation ; Spermatogenesis/genetics* ; Spermatozoa

The aim of this study was to estimate the seroprevalence of immunoglobulin M (IgM) and G (IgG) antibodies against SARS-CoV-2 in asymptomatic people in Wuhan. This was a cross-sectional study, which enrolled 18,712 asymptomatic participants from 154 work units in Wuhan. Pearson Chi-square test,
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antibodies, Viral/blood* ; COVID-19/immunology* ; Carrier State/immunology* ; Child ; Child, Preschool ; China/epidemiology* ; Coronavirus Nucleocapsid Proteins/immunology* ; Cross-Sectional Studies ; Female ; Humans ; Immunoglobulin G/blood* ; Immunoglobulin M/blood* ; Male ; Middle Aged ; Occupations/classification* ; Phosphoproteins/immunology* ; SARS-CoV-2/immunology* ; Seroepidemiologic Studies ; Spike Glycoprotein, Coronavirus/immunology* ; Young Adult

Objective:To compare the characteristics of four commonly adopted animal models of hyperuricemia （HUA） for traditional Chinese medicine （TCM） screening， so as to choose the adequate model for screening Chinese herbs and herbal compounds capable of lowering the uric acid. Method:Fifty-four male SD rats were randomly divided into nine groups， namely the normal group， hypoxanthine （HX） + oxonic acid potassium salt （OAPS） model group， yeast extract （YE） + OAPS model group， low-dose adenine （AD） + ethambutol （EMB） model group， high-dose AD + EMB model group， and four positive drug allopurinol （Allo） groups. The modeling lasted for 14 d. The levels of serum uric acid （SUA）， urinary uric acid （UUA）， serum creatinine （SCr）， urea nitrogen （BUN）， kidney injury molecule 1 （KIM-1）， and neutrophil gelatinase-associated lipocalin （NGAL） were detected on the 3rd， 7th， and 14th days. Urine was collected on the 7th and 14th days to investigate changes in urine volume， and the crystals in the residual urine were observed under a polarizing microscope. After the modeling， the kidney was harvested and weighed， followed by pathological examination. Result:The urine volumes in the HX + OAPS model group and high-dose AD + EMB model group were significantly reduced （P<0.05）. The renal indexes of each model group， except for the YE + OAPS model group， were significantly elevated （P<0.05， P<0.01）. The increase in SUA of the HX + OAPS model group and YE + OAPS model group started later （P<0.05）. The KIM-1 and NGAL levels of the HX + OAPS model group rose significantly from the 7th day （P<0.05， P<0.01）， and the BUN increased significantly on the 14th day （P<0.05）. There was no significant difference in the above-mentioned indicators in the YE + OAPS model group. The SUA levels of the low- and high-dose AD + EMB model groups increased significantly on the 3rd day （P<0.05， P<0.01）， with a persistent increase found in the low-dose AD + EMB model group. Besides， the increase in BUN， KIM-1， and NGAL occurred later （P<0.05， P<0.01）. By contrast， the high-dose AD + EMB model group exhibited a transient increase in SUA. Moreover， the SCr， BUN， KIM-1， and NGAL elevation occurred earlier and were more obvious than those in the low-dose AD + EMB model group （P<0.01）. Remarkable histomorphological abnormalities were detected in the kidney of all model groups， except for the YE+OAPS model group， with the most severe injury present in the high-dose AD+EMB model group. Conclusion:The four models commonly used to screen TCM have their own characteristics. In the four models， the SUA elevation in the HX + OAPS model group and YE + OAPS model group started later， with the mild renal injury observed in the HX + OAPS model group instead of the YE + OAPS model group. The SUA of the low-dose AD + EMB model group increased rapidly and lasted for a long time， accompanied by mild renal injury. The SUA of the high-dose AD + EMB model group only showed a transient increase， accompanied by severe renal injury. The investigation on the characteristics and application of different models and the evaluation of these models based on sensitive and objective indicators are helpful for determining the suitable model for the screening of TCM targeting HUA in the future.

Objective:To investigate the effects of Da Jianzhongtang on substance P （SP）， mast cells （MC）， Toll like receptor 2 （TLR2）， TLR4 on MC model and nuclear transcription factor （NF）-κB p65 in visceral pain rats with irritable bowel syndrome （IBS）， and explore its mechanism of action on IBS visceral pain. Method:Forty-eight 3-day-old SD rats were randomly divided into 6 groups： the control group （control）， irritable bowel syndrome group （IBS）， ketotifen group （Ketotifen，0.18 mg·kg^-1）， Da Jianzhongtang low， medium and high dose groups （DJZT-L， DJZT-M， DJZT-H，2.16，1.08，0.54 g·kg^-1）， with 8 rats in each group. Intragastric administration lasted for 2 weeks. Maternal separation method was used to establish the IBS visceral pain model in rats. The visceral sensitivity of rats was evaluated at 60， 40 and 20 mmHg （1 mmHg≈0.133 kPa） with Abdominal wall withdrawal response （AWR） scale. SP and NF-κB p65 protein expression levels in colon tissue were detected with Western blotting technique. TLR2 and TLR4 proteins on mast cell membrane were detected by immunofluorescence staining. The degranulation rate of mast cells in colon tissue was detected by toluidine blue staining. Result:Compared with normal rats， AWR scores of model rats significantly increased at 60， 40， and 20 mmHg pressure （P<0.05，P<0.01）， the degranulation rate of mast cells in colon tissue and SP protein expression in colon tissue significantly increased （P<0.01）， TLR2， TLR4， and nuclear NF-κB p65 expression on mast cell membrane significantly increased （P<0.01）. Compared with model rats， the AWR scores of DJZT-H group （pressure of 40， 20 mmHg） and DJZT-M group （pressure of 60， 40， 20 mmHg） significantly decreased. Meanwhile， the degranulation rate of colon mast cells， and the SP， TLR2， TLR4， and NF-κB p65 expression also significantly decreased （P<0.05，P<0.01）. Conclusion:Da Jianzhongtang can affect mast cell activity and finally decrease visceral pain of IBS rats by down-regulating SP in colon tissue.

BACKGROUNDThe conventional venous access for cardiovascular implantable electronic device (CIED) is the subclavian vein, which is often accompanied by high complication rate. The aim of this study was to assess the efficacy and safety of optimized axillary vein technique.

METHODSA total of 247 patients undergoing CIED implantation were included and assigned to the axillary vein group or the subclavian vein group randomly. Success rate of puncture and complications in the perioperative period and follow-ups were recorded.

RESULTSThe overall success rate (95.7% vs. 96.0%) and one-time success rate (68.4% vs. 66.1%) of punctures were similar between the two groups. In the subclavian vein group, pneumothorax occurred in three patients. The subclavian gaps of three patients were too tight to allow operation of the electrode lead. In contrast, there were no puncture-associated complications in the axillary vein group. In the patient follow-ups, two patients in the subclavian vein group had subclavian crush syndrome and both of them received lead replacement. The incidence of complications during the perioperative period and follow-ups of the axillary vein group and the subclavian vein group was 1.6% (2/125) and 8.2% (10/122), respectively (χ2 = 5.813, P = 0.016).

CONCLUSIONOptimized axillary vein technique may be superior to the conventional subclavian vein technique for CIED lead placement.

TRIAL REGISTRATIONwww.clinicaltrials.gov, NCT02358551; https://clinicaltrials.gov/ct2/show/NCT02358551?term=NCT02358551& rank=1.

Aged ; Axillary Vein ; Defibrillators, Implantable ; adverse effects ; Electrodes, Implanted ; adverse effects ; Female ; Humans ; Male ; Middle Aged ; Pacemaker, Artificial ; adverse effects ; Perioperative Care ; Pneumothorax ; diagnosis ; etiology ; Postoperative Complications ; Prosthesis Implantation ; adverse effects ; Subclavian Vein

OBJECTIVETo explore the effect of the interaction between PLIN gene polymorphisms and open lifestyle intervention on weight-loss in Chinese Han adults.

METHODSTotally 109 overweight or obese subjects were assigned by random number table to the intervention group (n=56) or control group (n=53),and subjects in the intervention group received 22-week open lifestyle intervention. Anthropometric and metabolic indicators were measured for all subjects before and after intervention,and the PLIN1,PLIN4,and PLIN6 genotypes were amplified by polymerase chain reaction and sequenced through the first-generation sequencing technologies.

RESULTSAmong all these subjects,the rare allele C was dominant at PLIN1 (0.619),the common allele G was dominant at PLIN4 (0.606),and the common allele A was dominant at PLIN6 (0.564),in which PLIN1 and PLIN4 as well as PLIN4 and PLIN6 were in strong linkage disequilibrium (D'>0.9). After intervention,the body mass index,waist circumference,and body fat percent of female subjects were significantly decreased in intervention group and were lower than in control group;in male subjects,however,only the waist circumference showed significant difference with the control group (P<0.05). Subjects carrying rare allele homozygote of PLIN6 got less weight/fat loss than those carrying common alleles in intervention group,while subjects carrying rare allele of PLIN1 had more weight/fat increase than those with common allele homozygote in control group (P<0.05). Females in intervention group carrying any one of rare allele homozygotes of PLIN1,PLIN4 and PLIN6 got less weight/fat loss than those with common alleles,and female subjects carrying the rare allele homozygote haplotype of PLIN1/PLIN4 or PLIN4/PLIN6 got less weight/fat loss than those with other haplotypes (P<0.05).

CONCLUSIONThe interaction between open lifestyle intervention and PLIN gene polymorphisms can directly influence weight-loss in Chinese Han overweight and obese adults.

Adipose Tissue ; Adult ; Alleles ; Body Mass Index ; Carrier Proteins ; Female ; Genotype ; Humans ; Life Style ; Linkage Disequilibrium ; Male ; Obesity ; Phosphoproteins ; Polymorphism, Genetic ; Waist Circumference ; Weight Loss

OBJECTIVETo develop the national neglect norms for urban primary school students in China.

METHODSAccording to multi-stage stratified cluster sampling principle, 24 cities of 13 provinces (municipalities) in China were selected during December 1 to 31, 2008. A total of 1491 students in grade 1 - 3 and 2236 students in grade 4 - 6 were selected. Questionnaire was designed by authors and the final norms were determined through several statistical analysis methods, such as item analysis method, factor analysis method, reliability analysis method. The reliability analysis and validity analysis were used to test the stability and reliability of the norms. The evaluation criteria of the scale was determined by the percentile method, then the initial development of the norm was completed.

RESULTSThe two questionnaires of grade 1 - 3 and grade 4 - 6 students consisted of 55 and 57 items, respectively, whose item loadings were ranged from 0.301 to 0.687 and 0.321 to 0.730, which met the statistical requirements. For grade 1 - 3 students, the scale's total Cronbach α coefficients was 0.914, the total split-half reliability coefficients was 0.896, the Cronbach α coefficients of four level was above 0.737 except medical and social neglect, split-half reliability was ranged from 0.461 to 0.757; for grade 4-6 students, the scale's total Cronbach α coefficients was 0.916, split-half reliability was 0.883, except social neglect, the Cronbach α coefficients of other level was ranged 0.457 to 0.856, split-half reliability was ranged from 0.500 to 0.798. The total neglect cut-off score of the two scales grade 1-3 and 4-6 were 125 and 155, respectively.

CONCLUSIONThe structure of two norms was reasonable. The scales have good stability and reliability.

Child ; Child Abuse ; prevention & control ; statistics & numerical data ; China ; epidemiology ; Female ; Humans ; Male ; Reproducibility of Results ; Schools ; Students ; Surveys and Questionnaires

OBJECTIVETo study the clinical outcome, adverse effect and treatment cost of homoharringtonine (HHT) in combination with all-trans retinoic acid (ATRA) and arsenic trioxide (AS2O3) for newly diagnosed with patients acute promyelocytic leukemia (APL).

METHODSClinical data of treatment of newly diagnosed patients with APL in experimental group (HHT + ATRA + AS2O3, n = 14) and control group \[Idarubicin (IDA) + ATRA + AS2O3, n = 21\] were analyzed retrospectively. The therapeutic effects, side effects and costs during induction therapy were compared between the two groups.

RESULTS(1) The complete remission (CR) rate were 92.9% (13/14) and 95.2% (20/21) in experimental group and control group, respectively. The time to achieve CR were (28.1 ± 3.8) and (31.7 ± 4.2) days, respectively (P > 0.05). The negative rate of PML-RARα fusion gene at the time of CR were 76.9% (10/13) and 75.0% (15/20), respectively, and that in CR patient at the end of the first cycle treatment were 100.0% (13/13) and 95.0% (19/20), respectively (P > 0.05). (2) 5-year overall survival (OS) rate were (92.6 ± 0.6)% and (89.9 ± 0.5)%, respectively (P > 0.05), 5-year disease free survival (DFS) rate were 100.0% and (86.8 ± 0.6)%, respectively (P > 0.05). (3) During induction therapy, the incidence of infection in experimental and control group were 23.1% (3/13), 60.0% (12/20), respectively (P < 0.05). The amount of platelet transfusion were (54.7 ± 29.6) and (76.5 ± 25.6) units, respectively (P > 0.05), and that of fresh frozen plasma were (1157.1 ± 238.4) and (1423.5 ± 324.6) ml, respectively (P > 0.05). The total medical costs (excluding HHT and IDA) in experimental and control group were (36074.9 ± 1245.6) and (50564.5 ± 3658.4)CNY, respectively (P < 0.05).

CONCLUSIONHHT in combination with ATRA and AS2O3 regimen for newly diagnosed APL has a better efficacy, a higher long-term survival rate, and a lower costs, which is one of the reasonable choice.

Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Arsenicals ; therapeutic use ; Female ; Harringtonines ; therapeutic use ; Humans ; Leukemia, Promyelocytic, Acute ; drug therapy ; Male ; Middle Aged ; Oxides ; therapeutic use ; Retrospective Studies ; Treatment Outcome ; Tretinoin ; therapeutic use