Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 ( MCMDC2 ) genes in 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&E) demonstrated that MCMDC2 deleterious variants caused meiotic arrest in three patients (c.1360G>T, c.1956G>T, and c.685C>T) and hypospermatogenesis in one patient (c.94G>T), as further confirmed through immunofluorescence (IF) staining. The single-cell RNA sequencing data indicated that MCMDC2 was substantially expressed during spermatogenesis. The variants were confirmed as deleterious and responsible for patient infertility through bioinformatics and in vitro experimental analyses. The results revealed four MCMDC2 variants related to NOA, which contributes to the current perception of the function of MCMDC2 in male fertility and presents new perspectives on the genetic etiology of NOA.
Humans ; Male ; Azoospermia/genetics* ; Meiosis/genetics* ; Spermatogenesis/genetics* ; Adult ; Exome Sequencing ; Microtubule-Associated Proteins/genetics* ; Alleles ; Infertility, Male/genetics*

Magnetic cell sorting technology is a highly specific and rapid cell sorting technology using superparamagnetic nanocomposites for cell sorting, which is widely used in immunology, stem cytology, oncology, clinical medicine and other fields. Magnetic cell sorting technology is divided into positive isolation, negative isolation/untouched cell isolation, depletion, multi-step isolation and automated cell separation systems. In this review, we firstly give a brief introduction to the classification and application of magnetic cell sorting technology, then discuss several new techniques and challenges based on magnetic cell sorting in recent years, such as improving the sorting efficiency by improving the structure of magnetic materials and magnetic field structure. The necessity of biological evaluation of magnetic cell sorting products was emphatically analyzed. Through the biological evaluation, the advantages and disadvantages of magnetic cell sorting products can be understood, and the research and development ability could be improved. Therefore, 10 biological evaluation technical parameters related to magnetic cell sorting products were proposed: yield, purity, sterility, cytotoxicity, cell morphology, viability, light scattering characteristics of cells, fluorescent antibody labeling ability of cells, cell activation and cell proliferation. The 10 biological evaluation technical parameters play an important role in promoting the standardized application of magnetic cell sorting.

Objective To establish the finite element model of spinal canal reconstruction and internal fixation,analysis influence of spinal canal reconstruction and internal fixation on spinal stability,and verify the effectiveness and reliability of spinal canal reconstruction and internal fixation in spinal canal surgery.Methods A 30-year-old male healthy volunteer with a height of 172 cm and weight of 75 kg was selected and his lumbar CT data were collected to establish a finite element model of normal lumbar Lo3-L,and the results were compared with in vitro solid results and published finite element analysis results to verify the validity of the model.They were divided into normal group,laminectomy group and spinal canal reconstruction group according to different treatment methods.Under the same boundary fixation and physiological load conditions,six kinds of ac-tivities were performed,including forward bending,backward extension,left bending,right bending,left rotation and right rota-tion,and the changes of range of motion(ROM)of L3-L4,L4-L5 segments and overall maximum ROM of L3-L5 were analyzed under the six conditions.Results The ROM displacement range of each segment of the constructed L3-L5 finite element model was consistent with the in vitro solid results and previous literature data,which confirms the validity of the model.In L3-L4,ROM of spinal canal reconstruction group was slightly increased than that of normal group during posterior extension(＞5％dif-ference),and ROM of other conditions was similar to that of normal group(＜5％difference).ROM in laminectomy group was significantly increase than that in normal group and spinal canal reconstruction group under the condition of flexion,extension,left and right rotation.In L4-L5,ROM in spinal canal reconstruction group was similar to that in normal group(＜5％differ-ence),while ROM in laminectomy group was significantly higher than that in normal group and spinal canal reconstruction group(＞5％difference).In the overall maximum ROM of L3-L5,spinal canal reconstruction group was only slightly higher than normal group under the condition of posterior extension(＞5％difference),while laminectomy was significantly higher than normal group and spinal canal reconstruction group under the condition of anterior flexion,posterior extension,left and right rotation(＞5％difference).The changes of each segment ROM and overall ROM of L3-L5 showed laminectomy group＞spinal canal reconstruction group＞normal group.Conclusion Laminectomy could seriously affect biomechanical stability of the spine,but application of spinal canal reconstruction and internal fixation could effectively reduce ROM displacement of the responsi-ble segment of spine and maintain its biomechanical stability.

ObjectiveTo summarize the effect of visual electrophysiological diagnosis and treatment technology on postoperative urinary incontinence in early intervention after transurethral enucleation and resection of the prostate （TUERP）. MethodsTotally 86 patients with benign prostatic hyperplasia （BPH） who underwent TUERP in the Puji Branch Hospital of Dongguan People's Hospital from December 2020 to June 2022 were selected as the treatment group， who received electrophysiological treatment after postoperative removal of the catheter on the 6th day after surgery， while 79 cases who received no electrophysiological treatment after surgery were selected as the control group. The urinary incontinence rates of the two groups on the 6^th day， at 1 month and 3 months after surgery were observed. ResultsThere was no statistical difference between the two groups in the preoperative basic data. The rates of urinary incontinence after removal of the catheter in the two groups on the 6^th day after surgery were 13 cases （15.1%） in the treatment group and 12 cases （15.2%） in the control group. There was no significant difference between the two groups （P >0.05）， and the overall postoperative urinary incontinence rate in the two groups was 15.2% （25/165）. At one month after surgery， only 4 cases （4.65%） had slight urinary incontinence in the treatment group， while 13 cases （16.5%） in the control group still had urinary incontinence， and the difference between the two groups was statistically significant （ P=0.019）. After follow-up to three months after operation， there was no case of urinary incontinence in the treatment group， and there were still 7 cases （8.86%） of urinary incontinence in the control group. The difference between the two groups was statistically significant （P=0.005）. ConclusionThe early intervention of visual electrophysiological diagnosis and treatment technology can effectively prevent the occurrence of urinary incontinence after TUERP， and has good value in clinical application.

Sarcopenia is an age-related syndrome of extensive, aggressive muscle mass loss and function reducing, which seriously affects the quality of life and social participation of the elderly. Dysphagia can increase the prevalence of sarcopenia, in another hand, sarcopenia can also implicate swallow related muscles, to increase the risk of malnutrition and aspiration. In recent years, the concept of sarcopenic dysphagia has been widely recognized in many researches. Sarcopenia is mainly screened with CT, MRI, ultrasound, and other auxiliary examination, as well as consensus guidelines. Interventions for it mainly include functional training, nutrition management and drug therapy. Early identification and intervention are important for the outcome and quality of life of patients.

This study was purposed to investigate the mechanism of thrombocytopenia in patients with systemic lupus erythematosus (SLE) through detecting anti-megakaryocyte antibodies in SLE patients. The serum anti-megakaryocyte antibodies in 36 SLE cases with thrombocytopenia were detected by using indirect immunofluorescence, the detected results were compared with detected results of 30 SLE cases without thrombocytopenia and 30 healthy persons. The results showed that the positive incidences of anti-megakaryocyte antibody in serum of 36 SLE cases with thrombocytopenia, 30 SLE cases without thrombocytopenia and 30 healthy persons were 19.4% (7/36), 6.7% (2/30) and 3.3% (1/30) respectively. As compared with SLE patients without thrombocytopenia and healthy persons, SLE patients with thrombocytopenia had higher incidence of anti-megakaryocyte antibodies, moreover there was significant difference between SLE patients with thrombocytopenia and healthy persons (p < 0.05), while there was no significant difference between SLE patients with or without thrombocytopenia (p > 0.05). It is concluded that autoantibodies against megakaryocytes exist in SLE patients and may partially contribute to the incidence of thrombocytopenia in SLE patients. The detection of anti-megakaryocyte antibodies with a enough case number is needed to make a final conclusion on thrombocytopenia pathogenesis in SLE.
Adult ; Autoantibodies ; blood ; Female ; Fluorescent Antibody Technique, Indirect ; Humans ; Lupus Erythematosus, Systemic ; blood ; immunology ; Male ; Megakaryocytes ; immunology ; Middle Aged

OBJECTIVETo find out the rate of comorbidities of depression, anxiety disorder and attention deficit hyperactivity disorder (ADHD) symptoms in children with epilepsy and to analyze the relevant affecting factors and impacts on quality of life.

METHODTotally 142 children with various types of epilepsy underwent neuropsychological assessment with the Depression Self-rating Scale for Children, the Screen for Child Anxiety Related Emotional Disorders and the ADHD Rating Scale-IV, an 18-item parent-rated questionnaire based on the diagnostic criteria for ADHD, the quality of life was measured in 100 cases on antiepileptic medications by the Quality of Life in Epilepsy Inventory (QOLIE-31). The comorbidity rates were calculated using t-test, chi(2) test and multiple logistic analysis, the variables associated with psychiatric comorbidities were determined, and the impact on quality of life was analyzed.

RESULT(1) The total rate of emotional and behavioral comorbidities was 57.7% (82/142), the frequency of depressive disorder, anxiety disorder and ADHD was 14.8%, 44.4% and 17.6%, respectively. The suicidal ideation occasionally occurred in 5.6% of the cases and 0.7% of cases often had the ideation, but no suicidal action was found in any case. (2) Risk factors for the emotional and behavioral disorders: multiple logistic analysis indicated that age, gender and epilepsy illness-related variables were not relative to the comorbidities, P > 0.05, there were interactions among the disorders. (3) The impact on the quality of life: The emotional and behavioral conditions were associated with the low quality of life, which was significantly lower in epileptic children with co-morbid disorder compared to non-comorbidities epilepsy group. Especially negative impact on the total score of quality of life and four sub-items such as overall quality, emotional well-being, cognitive and social function, P < 0.001. There were also significant differences between the two groups in the other three sub-items including fear for seizure attack, energy/fatigue and medication effects (P < 0.05).

CONCLUSIONSThe frequency of emotional and behavioral disorders including depress disorder, anxiety disorder and ADHD was considerably high in children with epilepsy. Age, gender and epilepsy illness-related variables are not associated with the emotional and behavioral comorbidities, which interfere with each other. Emotional and behavioral disorder is one of the negative factors to the quality of life in epileptic patients. Neuropsychological assessment and treatment are important for improvement of the quality of life in children with epilepsy.

Attention Deficit Disorder with Hyperactivity ; epidemiology ; Child ; Child Behavior Disorders ; epidemiology ; pathology ; Comorbidity ; Emotions ; Epilepsy ; epidemiology ; psychology ; Female ; Humans ; Quality of Life ; Surveys and Questionnaires

OBJECTIVETo evaluate the effectiveness of anterior versus posterior surgical treatments of thoracolumbar fractures.

METHODSRandomized controlled trials (RCTs) and clinical controlled trials (CCTs) were identified from MEDLINE (1966 - 2006.7), EMBASE (1966 - 2006.7), PubMed (1996 - 2006.7), Cochrane Library (Issue 2, 2006).We hand-searched Chinese Journal of Orthopedics (from establishment to May 2006) and Orthopaedic Journal of China (from establishment to May 2006). RCTs and CCTs were included. Data were extracted by two reviewers with designed extraction form. RevMan 4.2.8 software was used for data analysis.

RESULTSTwo RCTs and four prospective clinical trials were included. The combined results showed that compare with posterior surgical management, anterior approach in the treatment of thoracolumbar fractures proved the less incidence of complications; better neurologic recovery and corrected kyphosis angle; more complete and reliable decompression of the canal. However, there was not difference between the two groups in the general status outcomes.

CONCLUSIONSTo compare with posterior fixation system, anterior surgical managements in the thoracolumbar spinal trauma might be the optimal choices because the lower rates of complications and loss of corrected kyphosis angle; better neurologic recovery, also. Besides, due to the lack of Evidence-based guidelines for the treatment of thoracolumbar spinal injuries, the results which indicated above need further study.

Adult ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Lumbar Vertebrae ; injuries ; Male ; Spinal Fractures ; surgery ; Thoracic Vertebrae ; injuries ; Treatment Outcome

UNLABELLEDStudy on the effect of a community-based early education and service program regarding intelligence

OBJECTIVETo assess the effect on a community-based early education and service programs regarding the development of infants' intelligence.

METHODSA community-based intervention study was carried out among 359 infants and their families. Base-line survey were carried out when infants reached their one month, where after infants and their families in the intervention group received instructions and services focused on baby fostering and intelligence development. When the infants reached their six-months and twelve-months of age, their families were informed to complete the follow-up surveys, using both questionnaire investigation and testing the infants' intelligence quotients. The infants' intelligence quotients were measured by Development Screening Test for children under six. By comparing intelligence quotients of infants in two study groups in the follow-up surveys, this paper evaluated the impacts of community intervention on the infants' intelligence development.

RESULTSDuring two follow-ups, no statistical difference had been detected between the two groups of infants in term of gender or delivery process. Baseline data showed that infants' mental index (MI) scored 98.26 in the intervention group and 101.79 in the control one, and development quotient (DQ) scored 94.50 and 99.36 in respective groups. Infants' MI score increased 6.07 and 8.86 at the six-month and twelve-month follow-up periods respectively in the intervention group compared during the baseline, higher than the MI increments of the control group at the two follow-up periods (-2.46 and 1.05 respectively). DQ score of infants in the intervention group increased 12.94 and 11.24 respectively in the two follow-up surveys, which were also higher than increments in the control group (-0.18 and 0.34). The group x time effect(interaction effect) of MI and DQ in six-month and twelve-month follow-ups were both significantly higher than that of the baseline level.

CONCLUSIONThe community-based early education and service programs could effectively improve the infants' intelligence.

Child Development ; Community Health Services ; Female ; Humans ; Infant ; Intelligence ; Male