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Objective To improve the performance of artificial joint at biological fixed interface by frettingmechanical stimulation. Methods Taking the bonding sample of active rat bone tissues and inactive titanium bead coating as the research object, by using the self-developed fretting mechanical stimulation test device, the effects of mechanical stimulation with different tangential fretting amplitudes on growth promotion and micro-injury of bone tissues at fixed interface were explored, and the mechanism of growth promotion and micro-injury of bonetissues on the surface of titanium bead coating under fretting stimulation was revealed. Results The mechanical stimulation group with 40 μm fretting amplitude showed the maximum interface bonding force between bone tissues and titanium bead coating. The tangential fraction force-displacement curves changed from elliptic shape to linear shape, and the bonding interface was in adhesion area, which was difficult to become loose. The bone tissues had the most complete structure, and the number of tissue cells adhering and growing on the surface of titanium bead coating was the largest, as well as the distribution range was the widest. With the increase of fretting amplitude, the promoting effect of fretting stimulation on bone growth weakened, the bonding strength between bone tissues and titanium bead coating interface gradually decreased, the internal cavity area increased, the number and proliferation activity of tissue cells decreased to varying degrees as well. Conclusions Fretting stimulation with different amplitudes can promote the growth of bone tissue and cause micro-injury at the same time, and the optimal fretting amplitude is 40 μm.
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A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.
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A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.
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Objective: To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS). Methods: To review and analyze the clinical data, including general conditions, clinical manifestations, growth hormone, cranial or pituitary gland magnetic resonance imaging (MRI),gene results and other data, 6 cases with WDSTS admitted to the Department of Endocrinology, Genetics and Metabolism of Jiangxi Provincial Children's Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited. Results: Of the 6 patients, 2 were male and 4 were female. The age of the first visit ranged from 1.0 to 11.2 years. All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis (mainly on the back and limbs). Among them, case 5 had a growth hormone deficiency, and case 2 and 4 had abnormalities revealed by cranial MRI. Variations in KMT2A gene were identified in these 6 patients: c.10900+2T>C,c.10837C>T(p.Gln3613*), c.4332G>A(p.E1444E), c.2508dupC(p.W838Lfs*9), c.11695_11696delinsT(p.T3899Sfs*73), c.9915dupA (p.P3306Tfs*22).Among these variations, c.4332G>A, c.11695_11696delinsT and c.9915dupA were novel mutations. Therefore, the final diagnosis of these patients was WDSTS. Conclusions: Patients presented with short stature and mental retardation, typical facial dysmorphism and hypertrichosis should be considered WDSTS. Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , Pregnancy , Abnormalities, Multiple , Craniofacial Abnormalities , Growth Disorders/genetics , Histone-Lysine N-Methyltransferase , Hypertrichosis/genetics , Intellectual Disability/genetics , Myeloid-Lymphoid Leukemia Protein , SyndromeABSTRACT
Objective:To investigate the characteristics of gonads, the incidence of gonadal tumors and the detection results of SRY gene and Y chromosome microdeletions in 45, X/46, XY chimeras. Methods:The medical records of 45, X/46, XY karyotype or its variant in Jiangxi Children′s Hospital from January 2013 to December 2019 were analyzed retrospectively and analyze the gonadal phenotype and oleculardetection of 45, X/46, YX karyotype.Results:Among the 30 patients with 45, X/46, XY karyotype or its variant, the age of treatment was under 18 years old, with 11 males and 19 females.Fourteen of the patients had undergone prophylactic gonadectomy.Six male cases of unilateral testis and contralateral striated gonads were detected.Pathological section suggested that the gonadal tissue contained testis and ovary in 3 cases, adrenal gland tissue with translocation in 2 cases, and bilateral striated gonad in 8 cases, and both sexes were female.Pathological section indicated that the gonad tissue contained both epididymis and ovary tissue in 1 case, and gonadoblastoma in 1 case.There were 1 case of ovarian dysplasia with granulomatous hyperplasia and 1 case with proliferative nevus cells (mixed nevus). No follicle was found in all patients with B-ultrasound and pathological sections.Among the 11 male children, 5 cases were positive by SRY gene detection.Seven cases by Y chromosome microdeletion detection displayed that 3 cases had partial Y chromosome deletion and 4 cases had no deletion; 10 cases among 19 cases of social gender female patients were detected by SRY gene detection and 9 cases were positive and 1 case was negative; 7 cases were detected by Y chromosome microdeletion and the results are 2 cases with Y chromosome partial deletion, 4 cases with Y chromosome no deletion and 1 case with Y chromosome whole deletion. Conclusions:Most patients with 45, X/46, XY chimera have abnormal gonadal tissue, which has the risk of gonadal tumor, especially among female patients.Most patients had positive SRY gene and had no or partial deletion of Y chromosome.In view of the increased risk of gonadal tumors in these patients, early prophylactic gonadectomy is recommended.
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OBJECTIVE@#To explore the genetic cause for a child with congenital ichthyosis.@*METHODS@#The child was subjected to next generation sequencing using a specific gene panel. Suspected mutation was validated by Sanger sequencing.@*RESULTS@#The proband was found to harbor compound heterozygous mutations c.327delG (p.Met109Ilefs*2) and c.791G>A (p.Arg264Gln) of the TGM1 gene, which were respectively inherited from his mother and father. The same mutations were not found among 101 healthy controls. c.327delG was not reported previously. By bioinformatic analysis, both mutations are likely to impair the function of TGase-1 protein.@*CONCLUSION@#The compound heterozygous mutations of c.327delG and c.791G> A of the TGM1 gene probably underlie the ichthyosis in the proband. The result has facilitated prenatal diagnosis for this pedigree.
Subject(s)
Female , Humans , Infant, Newborn , Pregnancy , Ichthyosiform Erythroderma, Congenital , Genetics , Mutation , Pedigree , Phenotype , Transglutaminases , GeneticsABSTRACT
Objective:To study the expression and interaction between miR-194 and PTPN12 in the process of age-related atrophy of thymus for clarifying the regulatory mechanism in the process of this disease.Methods:C57BL/6 mouse were divided into 4 groups as 1 month,6 months,10 months and 19 months old and each group has 6 cases.Thymus tissue was removed and thymic stromal cells were isolated.And thymus epithelial cells were washed out by CD45 antibody and LS column after anesthesia.Fluorescence quantitative real-time PCR and Western blot were used to detect the changes of miR-194 and PTPN12 gene expression in thymus epithelial cells with aging.miR-194 and PTPN12 luciferase reporter vectors were transfected into HEK293 cells,and the auto fluorescence values were detected at 24 h and 48 h,respectively in vitro.Results:The expression level of miR-194 decreased (P<0.05),while the expression level of PTPN12 mRNA increased (P<0.05) as the age increased.And the correlation between miR-194 and PTPN12 mRNA expression was found to be negative(P<0.05).In vitro,luciferase reporter gene results show that miR-194 has a direct effect on the 3'UTR region of PTPN12 gene and had the highest binding efficiency in 48 h.Conclusion:PTPN12 is one of the target genes of miR-194,which is involved in the aging process of thymus and is an important factor regulating the function of thymic ep-ithelial cells.
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<p><b>OBJECTIVE</b>To detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome.</p><p><b>METHODS</b>Clinical data of the patient was collected. The analysis included history taking, clinical examination and genetic testing. All coding regions of the TCOF1 gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A novel mutation c.2261ins G (p.E95X) of the TCOF1 gene was discovered in the patient. The same mutation was not found in his parents and 100 healthy controls.</p><p><b>CONCLUSION</b>The c.2261insG (p.E95X) mutation of the TCOF1 gene probably underlies the disease in the patient. Genetic testing can facilitate diagnosis and genetic counseling for families affected with TCS.</p>
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Objective To determine the ameliorative effects of Junzhi beverageⅠon neurobehavioral functions in subjects exposed to long-term sustained work.Methods Forty male students of a military institution were randomized into control group ( n=20 ) and the intervention group ( n=20 ) .All the subjects were exposed to 10-hours′high intensity mental work continuously (8∶00-18∶00).At 12∶50, the intervention group drunk a bottle of water with Junzhi beverageⅠ, but the control group drunk water of the same volume only.At 17∶00, neurobehavioral functions of all the subjects were tested by neurobehavioral core test battery (WHO-NCTB) and attention span test(AST).Results According to the results of WHO-NCBT, after 10-hours′continuous mental work,the profile of mood state in the intervention group was more stable than in the control group with lower scores in negative mood and higher scores in positive mood.Meanwhile, some of the neurobehavioral indexes were also found to be significantly improved, including shortened mean time of simple reaction and decreased error reaction rate, enhanced digit span backward, higher scores in Beton test , digit symbol test, Santa Ana practice hand and correct dot number (P<0.05).In addition, higher scores were obtained in the intervention group in AST(P<0.05).Conclusion Junzhi beverageⅠ can significantly improve the neurobehavioral function under sustained mental work conditions, which suggests that the beverage has the potential to postpone mental fatigue protect and enhance cognitive function.
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Objective To assess the series of special anti-fatigue foods including JuntiⅠ, JuntiⅡ, JuntiⅢ, and Jun-tiⅣon military physical performance capacity .Methods Fifty-four soldiers , selected from a border defense troop , were randomly designated to control group , trial group 1 and trial group 2.Subjects of two trial groups were supplied with No .1 nutritional package ( including JuntiⅠ, Ⅲand Ⅳ) and No.2 nutritional package ( including Junti Ⅱ, Ⅲand Ⅳ),re-spectively, while no additional nutritional supplements were added in control group .After 7 days’ supplementation, a hard military exercise was performed to induce fatigue and an increasing load test was used to assess physical activity .RPE scale, exhaustive time and time taken to reach the 75% maximal heart rate were recorded while serum markers , such as glucose, lactate, BUN, LDH,and CK, were detected after test .Moreover, serum lactate and fatigue recovery scale were determined on the evening of the same day and the next morning .Results Prolonged exhaustive time and time taken to reach the 75%maximal heart rate and elevated RPE scores at 6 min were detected in both two trial groups compared with the control group .Meanwhile , after the increasing load test , elevated glucose concentration and reduced lactate , BUN, LDH and CK were also observed in both trial groups .Moreover, serum lactate of both trial groups was quickly recovered on the evening of the same day compared with the control group , and the next morning , serum lactate was even much lower in trial groups than in control group .The fatigue recovery scores were higher in trial groups at both time points .Meanwhile, there was no difference of such indexes between the two trial groups .Conclusion Through the combination use , the series of special anti-fatigue foods, inclucling No.1 and No.2 nutritional packages , can significantly improve the soldiers′physi-cal performance capacity , delay the physical fatigue emergence , promote physical activity recovery and prevent military training injury.
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Objective To establish the animal model of photochemical damage and investigate the protective effects and mechanism of taurine on the retina photochemical damage in rats. Methods Fifty rats were randomly divided into normal control group, light damage group and 4% taurine supplementation group. After 15 day cyclic light and 24-hour dark adaptation, the last two groups were exposed to (3000?200) lx transmitted by six cold white lights. After 24-hour exposure, the rats were stayed in darkness. The retinal morphology was detected through light and electron microscope and the retinal function was detected by Scot-ERG. The concentration of MDA and the activity level of SOD/GSH-px were measured. Results In light damage group, the a and b amplitude (Aa/Ab) were significantly decreased, but in taurine group, except the decreased Aa, others were of no significant changes. The retina inner and outer segments were swollen and in disorder after exposure, the outer nuclear layer got thinner than that of control. The mitochondria in light damage group was swollen, but in taurine group changes were less significant. After exposure, the concentration of MDA in retina was markedly increased in light damage group and the activity level of SOD/GSH-px were decreased, but in taurine group MDA slightly increased and SOD/GSH-px was up-regulated but of no significance. Conclusion Dietary supplementation with 4% taurine partially protected photoreceptor from degeneration, which might correlate with the antioxidation and inhibition of free radical character of taurine.
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Objective: To observe the effects of taurine (Tau) on photoreceptor apoptosis and investigate the mechanism. Method: Seventy rats were randomly divided into control group (Cont) and 4% taurine supplementation group (Tau). The subjects were exposed to the cool white light (3000?200 lx)for 0, 1, 3, 6, 9, 12 or 24 h . The apoptotic index (AI) of photoreceptor was evaluated by TUNEL method. Meanwhile, levels of p65 in nuclear and caspase-1 were determined by Western-blot analysis and I?Ba mRNA was detected by RT-PCR . Results: After 9 h exposure, scattered TUNEL positive photoreceptors were found in Tau group, and each AI was lower than the corresponding control (P