In recent years, with the increase of traffic accidents and the further development of aging, the incidence of pelvic fracture is gradually increasing. Based on the in-depth study about biomechanics of pelvic fracture fixation, the surgical treatment has been widely carried out. The purpose of surgical treatment is to effectively reduce and fix the fracture, correct deformity, restore integrity and stability of the pelvis, and minimize the complications caused by internal and external fixation. How to improve stability of the pelvis while ensuring therapeutic effect is a problem that every doctor will face in clinic. This paper summarizes the biomechanical research progress of pelvic fracture in recent years from the aspects of anatomy, normal biomechanics, classification and biomechanics of pelvic fracture fixation, so as to provide some references for reasonable treatment of pelvic fracture.

Objective:To explore the clinical application value of extended detection method for Y chromosome azoospermia factor (AZF) microdeletion in hereditary infertility and sexual development disorders.Methods:Multiplex polymerase chain reaction(PCR) combined with agarose gel electrophoresis method, combined fluorescence multiplex PCR capillary electrophoresis DNA fragment analysis technique and chromosome karyotype analysis technique were used to detect an infertility patient who visited the Reproductive Center of Henan Provincial People's Hospital in March 2020 (patient 1) and a child with sexual dysplasia who visited the Endocrinology Department of Henan Provincial People's Hospital in June 2020 (patient 2).Results:We found no AZF microdeletions on the Y-chromosome of the two patients to detect 15 sequence tagged site (STS) sequences. To detect the 27 genetic markers, it was found that in patient 1 the amplification peak of the STS locus on the long arm of the X chromosome was nearly three times as much as the amplification peak of the short arm of the X chromosome (Xqp), the STR quality control loci on the long arm of the X chromosome had two peaks, and the ratio was about 2∶1 (GATA31E08 and DXS6809), and the ratio of the amplification peak of the long arm of the X chromosome to that of the autosome at the TAF9b locus was about 3∶2. Patient 1 might have an abnormal copy number of long arm of X chromosome. In patient 2, the ratio of the amplification peak of C03Yp, TAF9b, C01Yq and C11Xp on the X chromosome or Y chromosome to the amplification peak of autosomes was about 1∶1, and the amplification peak of the STR quality control site on the X chromosome was two peaks, and the ratio was about 1∶1 (GATA31E08 and DXS6795). Patient 2 might have abnormal X and Y chromosome copy numbers. The results of karyotype analysis showed that the karyotype of patient 1 was 47, XY, i(X)(q10); the karyotype of patient 2 was 48, XXYY, which was consistent with the results of AZF microdeletion extension test.Conclusion:Compared with the traditional AZF detection method, this extended detection method can not only meet the needs of AZF detection, but also indicate abnormal copy number of sex chromosomes. Compared with the karyotype analysis technology, it has the characteristics of simple operation and can reduce the cost and workload of clinical testing.

Objective:To explore the clinical application value of extended detection method for Y chromosome azoospermia factor (AZF) microdeletion in hereditary infertility and sexual development disorders.Methods:Multiplex polymerase chain reaction(PCR) combined with agarose gel electrophoresis method, combined fluorescence multiplex PCR capillary electrophoresis DNA fragment analysis technique and chromosome karyotype analysis technique were used to detect an infertility patient who visited the Reproductive Center of Henan Provincial People's Hospital in March 2020 (patient 1) and a child with sexual dysplasia who visited the Endocrinology Department of Henan Provincial People's Hospital in June 2020 (patient 2).Results:We found no AZF microdeletions on the Y-chromosome of the two patients to detect 15 sequence tagged site (STS) sequences. To detect the 27 genetic markers, it was found that in patient 1 the amplification peak of the STS locus on the long arm of the X chromosome was nearly three times as much as the amplification peak of the short arm of the X chromosome (Xqp), the STR quality control loci on the long arm of the X chromosome had two peaks, and the ratio was about 2∶1 (GATA31E08 and DXS6809), and the ratio of the amplification peak of the long arm of the X chromosome to that of the autosome at the TAF9b locus was about 3∶2. Patient 1 might have an abnormal copy number of long arm of X chromosome. In patient 2, the ratio of the amplification peak of C03Yp, TAF9b, C01Yq and C11Xp on the X chromosome or Y chromosome to the amplification peak of autosomes was about 1∶1, and the amplification peak of the STR quality control site on the X chromosome was two peaks, and the ratio was about 1∶1 (GATA31E08 and DXS6795). Patient 2 might have abnormal X and Y chromosome copy numbers. The results of karyotype analysis showed that the karyotype of patient 1 was 47, XY, i(X)(q10); the karyotype of patient 2 was 48, XXYY, which was consistent with the results of AZF microdeletion extension test.Conclusion:Compared with the traditional AZF detection method, this extended detection method can not only meet the needs of AZF detection, but also indicate abnormal copy number of sex chromosomes. Compared with the karyotype analysis technology, it has the characteristics of simple operation and can reduce the cost and workload of clinical testing.

Objective:To explore the accuracy of array comparative genomic hybridization(aCGH) in the unexpected detection of Duchenne muscular dystrophy ( DMD) gene duplication/deletion in prenatal diagnosis. Methods:A retrospective analysis was performed on 31 cases with DMD gene duplication/deletion detected by aCGH among 5 025 prenatal diagnosis samples without family history of DMD in Henan Provincial People's Hospital from July 2018 to December 2019. The multiplex ligation-dependent probe amplification (MLPA) method was used to verify the above results. The American College of Medical Genetics and Genomics (ACMG) guideline was referred for pathogenicity analysis of the detected duplicates/deletions. Descriptive analysis was adopted in analysis. Results:The total unexpected DMD gene duplication/deletion rate was 0.62% (31/5 025), among which 25 cases were with microduplication/microdeletion ≤ 200 kb and six were >200 kb; there were 24 cases of deletion, seven cases of duplication; exon or intron duplication/deletion were accounted for 19 and 12 cases, respectively. According to the five classification standards of ACMG guideline, there were 17 cases with pathogenic variants and 14 cases with uncertain pathogenicity/likely benign variants. Of the 19 with exon mutations, 17 cases were DMD intragenic variants, and two cases involved variants in and outside DMD gene, which were verified by MLPA whose results were all positive. Conclusions:The duplication/deletion of exon region of DMD gene detected by aCGH technique is accurate and reliable, which plays an important role in the diagnosis of DMD. For these cases involved both internal and external regions of DMD gene, aCGH can identify the upstream and downstream breaking points of DMD gene, thus providing the basis for ACMG grading.

Objective:To explore the etiology, clinical diagnosis and treatment strategy of Lesch Nyhan syndrome.Methods:We retrospectively analyzed 2 patients with severe dyskinesia, mental retardation and complicated renal calculi who were admitted to the first people's Hospital of Zhengzhou in August 2019. Case 1, male, 9 years old, had multiple urinary calculi for 1 year. The patient came to the local hospital because double multiple kidney stones and bladder stonesa year ago. The patient had been treated with transurethral holmium laser lithotripsy for bladder stones. The results of infrared spectrum showed that the bladder stone was anhydrous uric acid stone. A week ago, color Doppler ultrasound showed multiple kidney stones and bladder stones. The patient was underdeveloped, mentally retarded and had a full-term cesarean section. There was no history of hypoxia, asphyxia and rescue of the patient. He had the following clinical manifestations: In the waking state, he was no language response to any stimulation. The nasolabial fold on the right was shallow and the corner of the mouth was oblique to the left. He lost the large movements such as lifting head, sitting alone, standing. The trunk showed torsion spasticity, limb muscle strength 2-3, limbs showing spastic hypertonia, limb joints stiff, hands showing fist-like, no involuntary movement and muscle fasciculation. The biceps reflex and knee tendon reflex were not elicited, and the pathological reflex was positive. Serum uric acid was 517 μmol/L. The Case 2 came from the same family, male, 6 years old, had the similar symptoms to his elder brother case 1. The family members complained on behalf of the child about intermittent fever for more than 2 years. The imaging examination of case 2 revealed kidney stones. Serum uric acid was 373 μmol/L. Whole Exome Sequencing and Sanger Sequencing were used to find the genetic causes of the two siblings. The NCBI-Homologene database was used to find the homologous sequence of the human HPRT1 gene, and the human HPRT1 gene sequence was compared with other species to analyze the protein conservation. The online website PredictProtein (http: //www.predactprotein) was used to predict the two-dimensional structure of the HPRT1 gene. The reported cases were summarized and same with the treatment plan.Results:A De novo mutation [c.571T>G(p.Tyr191Asp)] was found in the HPRT1 gene of the child, which was inherited from the mother. Lesch Nyhan syndrome can be diagnosed by the results of gene examination combined with clinical manifestations. The amino acid Tyr at the 191 position and the amino acids before and after it were highly conserved. Amino acid 191 was involved in the β-strand of the protein. We treated the patients with the lowest dose of allopurinol and children's conventional dose of potassium sodium bicitrate granules, and low purine diet. After 3 months of treatment, the serum uric acid was decreased, and the urinary calculi did not increase significantly.Conclusions:Combining with the clinical manifestations of children, HPRT1 gene might be the cause of pediatric disease and the two siblings could be diagnosed as Lesch-Nyhan syndrome. For such patients, the lowest dose of allopurinol and children's conventional dose of potassium sodium hydrogen citrate granule combined with diet could be more effective.

Military flying labor hygiene is a discipline that focuses on influences of special flight environment and labor condition on human body and related prevent measures, with the core of flight fatigue. Health information and technique training can help flight surgeons to enhance professional competency and improve the prevention and recovery of military flying fatigue. The course construction of teaching system in this study included survey of demand, arrangement of content, identification of strategy, determination of evaluation, and feedback of results. Meanwhile, the textbook compilation, cultivation of teaching team and construction of laboratory were also needed. After a 4-year practice, a formal teaching system has been established and its teaching effectiveness has basically fulfilled the professional requirement for flight surgeons.

OBJECTIVE: To carry out genetic diagnosis for a pedigree affected with cutis laxa. METHODS: Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing. RESULTS: A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls. CONCLUSION The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.
Cutis Laxa ; genetics ; Elastin ; genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Pedigree

Objective:To investigate the changes of gene or protein expression and activity of matrix metalloprotein9 (MMP9) and tissue inhibitor ofmetalloproteinasel (TIMP1) in the carotid artery (CA) of 4 wk hindlimb unweighted rat.Methods:A 4 weeks(wk) hindlimb unweighted (HU) rat model was used to simulate the effect of weightlessness on the cardiovascular system.Transmission electron microscopy was used to detect the content of ECM.Reverse transcriptase polymerase chain reaction(RT-PCR) was conducted to measure the mRNA content MMP and TIMP1.Immunohistochemistry and Western blot technique were used to measure the protein abundance.Gelatin zymography was carried out to detect the activity of MMP9.Results:Compared to the control group (CON),the area of ECM was enhanced (P＜0.05) and the content of collage fiber was increased (P＜0.05) in the CA of HU rats;moreover,HU did not affect the mRNA expression of MMP9,but significantly reduced the protein content (P＜0.05) or enzymatic activity (P＜0.05).Accordingly,the mRNA or protein expression of TIMP1 in the CA was significantly increased by HU (P＜0.05).Conclusion:Simulated weightlessness caused imbalance between MMP and TIMP1 expression,which might contribute to the ECM aggregation and stiffness of CA.

Subclinical hypothyroidism is a common endocrine disease, and the clinical incidence rate has increased gradually in recent years. This disease has impacted on cardiovascular function, lipid metabolism, etc, which can leads diseases such as atherosclerosis, coronary heart disease. The screening and treatment for patients with subclinical hypothyroidism and the follow-up study have become a research hotspot in the field of endocrine at home and abroad in recent years. The consensus has not been reached about the outcome and prognosis of subclinical hypothyroidism. This article will conduct a literature review on the effects of subclinical hypothyroidism on the body, the intervention mode, the research progress and clinical follow-up to cause attention from endocrine professional medical staffs in patients with subclinical hypothyroidism, strengthening the management and follow-up of this group and improving the level of patients with subclinical hypothyroidism health and life quality, prolonging their life expectancy.

Objective To investigate the sensitivity of common carotid arteries of the rats to ceramide (Cer) regulation after simulated weightlessness.Methods Fourty-eight male Sprague-Dawley rats that matched for weight were randomly assigned to suspended group (n=24) and control group (n =24).Tail suspension of rats was carried out for 4 wk to simulate the effect of weightlessness.Isometric force recording system was used to detect the vasoconstriction and vasodilation response of common carotid arteries ring.Dihydroethidium fluorescent probe was used to evaluate the level of superoxide anion (O2-·) in arteries.Results Vasoconstriction response and vasodilation response showed insignificant difference between suspended group and control group.Incubation with C6-ceramide (C6-Cer) or Cer antibody (anti-Cer) did not change the vasoconstriction response and O2-· level of CA in control group but increased Cer level,vasoconstriction response to KCl and O2-· level of common carotid arteries in control group,and did not change the vasodilation response of common carotid arteries both in control and suspended group.In suspended group,C6-Cer incubation increased vasoconstriction response of common carotid arteries both to potassium chloride and phenylephrine,as well as the O2-· level (t=6.077-12.630,P＜0.05) but less to acetylcholine and nitroprusside sodium.The anti-Cer incubation decreased response vasoconstriction of common carotid arteries in suspended both to potassium chloride and phenylephrine,as well as the O2-· level (t=11.582 32.130,P＜0.05) but the vasodilation response.The incubation of superoxide dismutase or hydrogen peroxide depressed the changes of vasoconstriction response caused by C6-Cer or anti-Cer.Conclusions Cer regulation increases the sensitivity of common carotid arterial constriction in the simulated weightless rats and the mechanism is concerned with reactive oxygen level.