Objective To investigate the effects of internal plating with high and low moduli of elasticity on the stress and its distribution on the femoral shaft fracture. Methods A femur from a normal Chinese adult male was scanned by 64-detector row helical CT at 0. 5 mm interval. The CT images were used to establish a finite element model of the femur by software. The mid-femoral fracture was simulated in the model and fixated by eight-hole plates of Ti-6Al-4V (high modulus group, E = 110 GPa) and of Ti2448 (low modulus group, E = 30 GPa). When the femur was in axial compression, flexion and torsion loads, the stress and its distribution on the bone fracture site were analyzed to compare the biomechanics of the plates with high and low moduli. Results Under axial compression load, the contact stress between fracture ends in the low modulus group was larger than that in the high modulus group, while the max stress at the hole (11.47MPa) was smaller than that in the high modulus group (13.89 MPa) . Under four-point bending load, the contact stress in the low modulus group was still larger, while the bending movement was smaller. Under the torsion load, stress on the femur was well-distributed in both groups, but the max stress at the hole in the low modulus group (11.47 MPa) was smaller than that in the high modulus group (31.24 MPa). Conclusions Under internal fixation by plates of low modulus, the stress stimulus at the fracture site may be increased,while the stress concentrated at the hole may be decreased. The stress shielding of the low modulus plate may also be modified.

Objective To investigate CT and MRI imaging of Warthin tumor of parotid gland.Methods CT and MRI character-istics of 5 1 patients confirmed as Warthin tumor by operation and pathology were analyzed retrospectively.Results Among 5 1 cases, 43 patients were males,and 8 patients were females.A total of 84 lesions were found in all cases,20 cases had at least 2 lesions.The margins of lesions were well-defined.68 lesions were round or elliptical.45 lesions located in the posterior and inferior quadrant of the parotid gland completely or premodinantly.The density and signal of most lesions were homogeneous.The parenchymal area of most lesions showed an early moderate-remarkable enhancement.Small blood vessels surrounded the lesions in 1 9 cases.Conclusion CT and MRI are important and valuable for the diagnosis of Warthin tumor.

Objective To investigate the role and the mechanism of Apr-1 gene on cholangiocarcinoma QBC939 cell lines proliferation and cell cycle regulation. Methods Apr-1 gene was transfected into QBC939 cells by using liposomes to establish a QBC939 cell model ( QBC939-Apr-1 ) stably expressing Apr-1 gene. Apr-1 mRNA expression and the changes in cell cycle and cell growth of QBC939 cells were analyzed by RT-PCR, flow cytometry ( FCM ) and growth curve before and after transfection. The regulatory effect of Apr-1 gene on the expression of cell cycle-related genes was investigated in QBC939 cells before and after Apr-1 transfection using cell cycle gene microarrays. Results Significant suppression of cell growth was observed with the cell model stably expressing Apr-1 gene. Apr-1 over-expression caused cell arrest from 9% to 13% (P ＜0. 01 ) increase in G2 population. Cell cycle gene microarrays demonstrated that the expression of Skp2 、UBE1 was up-regulated, while the expression of MRE11A 、CKS2 、CDK8 、CDC45 was down-regulated by more than 3 folds. Conclusions Apr-1 gene suppresses QBC939 cell proliferation in vitro, QBC939 cells presented with differences in the expression of cell cycle-related genes after Apr-1 gene transfection.

OBJECTIVE3β- hydroxysteroid dehydrogenase deficiency (3βHSD), a rare form of congenital adrenal hyperplasia (CAH) resulted from mutations in the HSD3B2 gene that impair steroidogenesis in both adrenals and gonads. We report clinical features and the results of HSD3B2 gene analysis of a Chinese pubertal girl with salt wasting 3βHSD deficiency.

METHODWe retrospectively reviewed clinical presentations and steroid profiles of the patient diagnosed in Guangzhou Women and Children's Medical Center in 2013. PCR and direct sequencing were used to identify any mutation in the HSD3B2 gene.

RESULTA 13-year-old girl was diagnosed as CAH after birth because of salt-wasting with mild clitorimegaly and then was treated with glucocorticoid replacement. Breast and pubic hair development were normal, and menarche occurred at 12 yr, followed by menstrual bleeding about every 45 days. In the last one year laparoscopic operation and ovariocentesis were performed one after another for recurrent ovary cysts. Under corticoid acetate therapy, ACTH 17.10 pmol/L (normal 0-10.12), testosterone 1.31 nmol/L (normal <0.7), dehydroepiandrosterone sulfate 13.30 µmol/L (normal 0.95 - 11.67), cortisol 720 nmol/L (normal 130-772.8), androstenedione, 17-hydroxyprogesterone and progesterone were normal. Estradiol 461 pmol/L, follicle-stimulating hormone 3.04 IU/L, luteinizing hormone 8.52 IU/L in follicular phase. A pelvic ultrasound showed lateral ovaries cysts (58 mm × 50 mm × 35 mm) and a midcycle-type endometrium. A novel nonsense mutation c.73G >T (p.E25X) was identified in HSD3B2 gene. The girl was homozygous and her mother was heterozygous, while her father was not identified with this mutation.

CONCLUSIONA classic 3βHSD deficiency is characterized by salt wasting and mild virilization in female. Ovary cysts may be the one of features of gonad phenotype indicating ovary 3βHSD deficiency. A novel homozygous mutation c.73G >T(p.E25X) was related to the classical phenotype.

17-alpha-Hydroxyprogesterone ; Adolescent ; Adrenal Hyperplasia, Congenital ; diagnosis ; genetics ; Androstenedione ; China ; Codon, Nonsense ; Delayed Diagnosis ; Female ; Follicle Stimulating Hormone ; Homozygote ; Humans ; Hydrocortisone ; Luteinizing Hormone ; Mutation ; genetics ; Ovarian Cysts ; genetics ; Progesterone Reductase ; genetics ; Recurrence ; Retrospective Studies

Objective To investigate the change patterns of functional brain networks and their relations with cognitive function in patients with end-stage renal disease (ESRD).Methods Sixty-two patients with ESRD (ESRD group),admitted to our hospital from July 2018 to June 2019,and 36 age-,gender-,and education level-matched healthy controls (HC group) were enrolled.Mini-mental State Examination (MMSE),Montreal Cognitive Assessment (MoCA),Trail Making Test A (TMT-A),TMT-B and Symbol Digit Modalities Test (SDMT) were used to evaluate the cognitive function for all subjects.Resting-state functional magnetic resonance imaging data were acquired;after data preprocessing,the brain functional networks were constructed and the topological parameters were calculated.Statistical methods were used to compare the differences of cognitive function scores and topological parameters between the two groups,and to analyze the correlations between these topological parameters and cognitive function scores in the ESRD group.Results The MMSE,MoCA and SDMT scores of the ESRD group were significantly lower than those of the HC group (P＜0.05),and the ESRD group took significantly longer time to complete TMT-A and TMT-B than the HC group (P＜0.05).The ESRD group had significantly lower normalized clustering coefficient (γ),small-worldness (σ) and local efficiency (Elocal) values than the HC group (P＜0.05).Patients in the ESRD group exhibited significantly decreased nodal efficiency in the paralimbic-limbic network (including the bilateral insula,median cingulate and paracingulate gyri,hippocampus,parahippocampal gyrus,amygdala,temporal pole:superior temporal gyrus,and temporal pole:middle temporal gyrus),right heschl gyrus and left superior temporal gyrus,and exhibited significantly increased nodal efficiency in the visual network (including the right distal-shaped gyrus,bilateral wedge,and left superior and middle occipital gyrus) as compared with the HC group (P＜0.05).In the ESRD group,the area under the curve (AUC) ofγ and σ was positively correlated with MoCA scores (r=0.698,P=0.000;r=0.661,P=0.000),and the AUC of Elocal showed positive correlation with MMSE scores (r=0.407,P=0.003).Conclusion Abnormal topological organization of the functional brain networks is revealed in patients with ESRD,which affects the cognitive function of these patients.

OBJECTIVETo explore the clinical features and molecular mutation of HEXB gene in a case with juvenile Sandhoff disease.

METHODWe retrospectively reviewed the clinical, neuroimaging and biochemical findings in this Chinese child with juvenile Sandhoff disease. Hexosaminidase A and hexosaminidase A & B activities were measured in blood leukocytes by fluorometric assay. HEXB gene molecular analysis was performed by PCR and direct sequencing.

RESULTThe 9-year-old boy was admitted for psychomotor regression. He presented slowly progressive gait disorder and dysarthria during the last three years. Cranial MRI revealed a marked cerebellar atrophy with normal intensity in the thalamus and basal ganglia. Brain MRS showed normal in the thalamus and basal ganglia. Hexosaminidase A was 69.5 (mg·h) [normal controls 150-360 nmol/(mg·h)], hexosaminidase A & B activity was 119 nmol/(mg·h)[normal controls 600-3 500 nmol/(mg·h)], confirming the diagnosis of Sandhoff disease. The patient was a compound heterozygote for a novel deletion mutation c.1404delT (p. P468P fsX62) and a reported mutation c.1509-26G>A.

CONCLUSIONThe clinical features of juvenile Sandhoff disease include ataxia, dysarthria and cerebellar atrophy. The enzyme assay and molecular analysis of HEXB gene can confirm the diagnosis of Sandhoff disease. The novel mutation c.1404delT(p. P468P fsX62) is a disease-related mutation.

Brain ; diagnostic imaging ; pathology ; Cerebellar Ataxia ; diagnosis ; enzymology ; genetics ; Child ; DNA Mutational Analysis ; Heterozygote ; Hexosaminidase A ; blood ; metabolism ; Hexosaminidase B ; blood ; metabolism ; Humans ; Leukocytes ; enzymology ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography ; Retrospective Studies ; Sandhoff Disease ; diagnosis ; enzymology ; genetics ; beta-Hexosaminidase beta Chain ; genetics

OBJECTIVEMucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase B(ARSB), which is required in the degradation of dermatan sulfate and chondroitin sulfate. The deficiency of ARSB leads to an accumulation of dermatan sulfate and chondroitin sulfate in lysosomes and gross excretion in the urine.Few articles about clinical study and ARSB gene mutation analysis of Chinese MPS VI patients were published. This study aimed to explore the clinical features and characteristics of ARSB gene in Chinese children with MPS VI.

METHODThirteen children were diagnosed as MPS VI by ARSB enzyme activity determination during the period from 2009 to 2013. Their clinical features, radiological findings and urine glycosaminoglycan (GAG) levels were retrospectively reviewed. Direct sequencing was used to identify any mutation in the ARSB gene.

RESULTThirteen children were diagnosed at the average age of (3.9 ± 2.2) years with 6 male and 7 female. All of these children presented with severe form and onset at an early age of (1.5 ± 0.8) years.Other clinical features included coarse facies, short stature, skeleton deformity, corneal clouding, hepatosplenomegaly with normal intelligence. The radiological findings in all children were characteristic of dysostosis multiplex, like abnormal development of vertebral bodies of the spine, campylorrhachia and paddle-shaped widened ribs. The MRI in case 2 showed cervical cord compression and multiple cysts degeneration in the corona radiate, cella lateralis and callosum.High urine GAG levels were detected, (307.10 ± 112.14) mg/L (Normally below 70 mg/L) and (722.28 ± 245.68) µg/mg creatinine. The ARSB enzyme activity in leukocytes was low, (13.29 ± 6.22) nmol/(mg×h) [Normal range (47-169) nmol/(mg×h)] by fluorogenic assay and (0.24 ± 0.18) U/g [Normal range (1.01-11.47) U/g] by colorimetric assay. A total of 11 mutations were identified by molecular analysis, including seven previously reported mutations (p.L72R, p.G167R, p.G303E, p.F399L, p. T442M, p.Y255X and p.R327X) and four novel mutations (p.Y175D, p.S403X, p.S464X and large deletion including ex. 2, 3). The c.1197C>G (p.F399L) mutation was the most common mutation in this study (31%).

CONCLUSIONThe severe form of MPS VI is characterized by early onset and rapid illness progression. Both the radiological findings and increased urine GAG are important clues to diagnose MPS VI.Large decrease or absence of ARSB activity is diagnostic for MPS VI.Four novel mutations of ARSB gene were identified. The reported mutation c.1197C>G (p.F399L) was the hot-spot mutation in this study.

Bone and Bones ; diagnostic imaging ; pathology ; Brain ; pathology ; Child ; Child, Preschool ; Exons ; genetics ; Female ; Glycosaminoglycans ; urine ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mucopolysaccharidosis VI ; diagnosis ; enzymology ; genetics ; Mutation ; N-Acetylgalactosamine-4-Sulfatase ; genetics ; metabolism ; Polymerase Chain Reaction ; Radiography ; Retrospective Studies ; Sequence Analysis, DNA

OBJECTIVE To predict the in vivo bioequivalence of lenvatinib mesilate capsules and reference preparation by using the parallel artificial membrane permeability analysis. METHODS Based on the biopharmaceutics classification system classification of lenvatinib mesilate and the parallel artificial membrane permeation model, the in vitro dissolution permeation rate test model of lenvatinib mesilate capsules was established, through real-time monitoring of the dissolution and penetration of lenvartinib mesylate capsules and reference preparations in fasting gastric juice, intestinal fluid and postprandial intestinal fluid, the flux and total penetration of drugs through the membrane were calculated. RESULTS In fasting state and fed state, the 90% confidence interval of geometric mean ratio of two key quality parameters (permeation flux and permeation amount) of the preparation A all were in the range of 80.00%−125.00%, the preparation B did not fall into this interval. CONCLUSION This research method can predict the bioequivalence of renvartinib mesylate capsule and reference preparation, and has a certain correlation in vivo and in vitro.