Background: Creatine transporter (CRTR) deficiency is the most common creatine deficiency syndrome, of which the final diagnosis relies on mutation in the X-linked CRTR gene. To date, more than 90 mutations in the SLC6A8 gene have been reported. This paper discusses a novel mutation detected via the thorough sequencing of all the X-chromosome-specific exons investigated in a four and a half year old boy with an intellectual disability, speech and language delay and motor disturbance. Methods: A brain magnetic resonance imaging (MRI) and a proton magnetic resonance spectroscopy (MRS) were carried out, the creatine and creatinine concentrations in the urine were checked and all exons were sequenced. Results: A detailed clinical investigation revealed a reduction in the cerebral creatine levels in the brain by the MRS, elevated creatine and creatinine concentrations in the urine and signal abnormalities in the left frontal cortex of the brain by the MRI. A novel change was identified in the heterozygosity of the exon 10: c.1395-c.1401 deletion. Conclusion: The use of a combination of powerful new technologies, such as thorough exome-nextgeneration sequencing and a brain MRS, should be considered, in order to determine any neurometabolic diseases, especially when the signal abnormalities in the brain MRI cannot be explained by any other factors. This mutation results most likely in a dysfunction of the creatine transport and synthesis, hence causing central nervous system symptoms.
Carrier Proteins

Objective To compare intramedullary nail (IN) and dynamic hip screw (DHS) regarding their effects on hip abduction following fixation of intertrochanteric fractures.Methods From January 2008 to December 2015,310 patients with intertrochanteric firacture were treated at our department.They were divided into 2 groups depending on the manner of treatment.198 patients (71 males and 127 females) were subjected to intramedullary nailing,with an average age of 74.7 ± 5.6 years;there were 50 cases of 31-A 1,134 ones of 3 1-A2 and 14 ones of 3 1-A3 according to the AO classification.112 patients (35 males and 77 females) were subjected to dynamic hip screwing,with an average age of 74.1 ± 6.7 years;there were 24 cases of 31-A1,78 ones of 31-A2 and 10 ones of 31-A3.The 2 groups were compared in terms of time for weight-bearing ambulation and stand on one leg,gait,pelvic tilt,range of hip active abduction,muscle strength of the abductor and hip function at the final follow-up.Results Of this series,284 patients were followed up for 1.5 to 8.5 years (average,3.6 years) and 26 patients died.The IN group achieved significantly better outcomes in terms of time for weight-bearing ambulation (37.6 ±4.9 d),time for stand on one leg (60.1 ± 9.5 d),cases of normal gait and normal pelvic tilt (171 and 179),muscle strength of the abductor (62.3 ±4.4 N · m),and range of hip active abduction than the DHS group (53.0 ±8.4 d;71.0 ± 12.0 d;67 and 85;56.6 ± 3.3 N · m,respectively) (P ＜ 0.05).There was no significant difference between the 2 groups in the hip function at the final follow-up(91.4％ versus 84.5％ in the excellent and good rate)(P ＞ 0.05).Conclusion Compared with dynamic hip screwing,intramedullary nailing has a limited effect on hip abduction so that the patients may benefit from quicker functional recovery and faster improvement in quality of life.

Objective To explore the management of endocrine disturbance related to Symptomatic Rathke's cleft cysts (RCCs) in both pre- and post-operation, as well as the risk factors for the recurrence of RCCs after the operation. Methods The clinical manifestations, radiological and pathologic features, treatment, and surgical outcomes of 11 cases of symptomatic RCCs were reviewed retrospectively. Results Headache recovered in 100% of patients and visual disturbance improved in 83.3%, and Amenorrhea and/or galactorrhea recovered or improved in 66.7% of patients. However, diabetes insipidus and panhypopituitarism did not improve postoperatively. Transcranial surgery was performed in 6 patients and transsphenoidal surgery in 5 patients. No recurrence occurred in transcranial radical resected cases while 2 of 5 subtotally removed cases recurred with an average follow-up of 34.5 months. Inflammation was present in two of the recurrent cases. Conclusion RCCs is a rare pathology with a wide specctrum of clinical and radiological features. Accurate preoperative diagnosis can be difficult. Endocrine disturbance should be evaluated both pre- and post-operatively, and proper hormones replacement therapy is mandatory in these selected patients, Removing as much as possible and multiple biopsies around the cyst wall will be helpful in accurate diagnosis, especially of cases showing atypical pathologic findings, and special attention should be paid to follow-up examination.

OBJECTIVETo investigate the changes in the population and distribution intestinal microflora and their relationship with depression in post-stroke patients.

METHODSFecal specimens were obtained from 32 patients with post-stroke depression and 30 healthy adults for gene sequencing of 16S RNA V3 region of the intestinal microorganism using Roche/45 high-throughput sequencing platform.

RESULTSThe genus and species of intestinal bacteria showed significant differences between the post-stroke patients and health adults.

CONCLUSIONSignificant changes in the structure of intestinal flora occur in patients with post-stroke depression.

Adult ; Case-Control Studies ; Depression ; complications ; microbiology ; Gastrointestinal Microbiome ; High-Throughput Nucleotide Sequencing ; Humans ; Intestines ; microbiology ; Stroke ; complications ; psychology

Objective To explore the advantages and security of orthopaedic TiRobot used to assist internal fixation with sacroiliac lag screws.Methods From December 2015 to August 2017,11 patients with fracture of pelvic posterior ring or sacroiliac separation were treated by internal fixation with sacroiliac lag screws assisted by an orthopaedic TiRobot at Department of Orthopaedic Surgery,Affiliated Hospital to Chengdu University.They were 7 men and 4 women,aged from 23 to 61 years (average,42.5 years).According to AO classification,there were one case of type B1.2,one case of type B2.2,6 cases of type C1.2,2 cases of type C1.3 and one case of type C2.3.The number of sacroiliac lag screws inserted,time for planning insertion approaches,fluoroscopy frequency,fluoroscopy time,exposure time of C-arm X-ray,operation time,blood loss and reduction quality were documented.Results The 11 patients were followed up for 5 to 22 months (average,9.5 months).A total of 15 sacroiliac screws were inserted.In the operations,time for planning insertion approaches averaged 8.5 minutes (from 9 to 25 minutes),fluoroscopy frequency 8.5 times (from 4 to 15 times),fluoroscopy time 5.5 minutes (from 3.2 to 6.5 minutes),exposure time of C-arm X-ray machine 5.8 seconds (from 2.4 to 16.3 seconds),operation time 34.5 minutes (from 25 to 45 minutes),and blood loss 35 mL (from 10 to 80 mL).All the screw positions were satisfactory,with no penetration into the sacral canal,sacral foramen or bone cortex.No postoperative neurovascular injury happened.All the incisions primarily healed.All the fractures united well after 4 to 7 months (average,5.6 months),without any screw loosening.By the Matta scoring for fracture reduction,9 cases were excellent,one was good and one fair.By the Majeed functional scoring for pelvic fractures,8 cases were rated as excellent and 3 as good at the last follow-up.Conclusion Orthopaedic TiRobots can be used to assist internal fixation with sacroiliac lag screws in the treatment of pelvic posterior ring injuries,with advantages of limited invasion,time,hemorrhage,and high safety and accuracy as well.

OBJECTIVETo study the effect and complications of augmentation phalloplasty by implanting autogenous tunica vaginalis grafts into the bilateral albuginea of the penile corpus.

METHODSFive mongrel dogs underwent augmentation phalloplasty with bilateral autogenous tunica vaginalis grafts. The increase in the volume of the corpora cavernosa was achieved by applying autogenous tunica vaginalis grafts to longitudinal openings made bilaterally in the albuginea along the whole length of the penile cavernous corpora. The perimeter of the penile cavernous corpora was measured in the flaccid state and during erection and dynamic infusion cavernosometry (DIC) was conducted for each dog before and after the operation. Histology of the penis was examined using hematoxylin and eosin stains.

RESULTSThe average increase in the perimeter of the penile cavernous corpora was 21. 1% in the erectile state but unobvious in the flaccid state 3 months after surgery. There were no statistically significant differences in cavernosometric parameters before and after the operation, and neither were there any other severe postoperative complications. The grafts had mild inflammatory reaction and fibrosis with apparent reformation of the tunica albuginea over the patch site.

CONCLUSIONThe augmentation phalloplasty technique with bilateral autogenous tunica vaginalis grafts was proved to be effective and reliable with few complications, particularly conspicuous in increasing the volume of the erectile tissues during erection.

Animals ; Dogs ; Male ; Penile Diseases ; surgery ; Penile Implantation ; Penis ; surgery ; Testis ; transplantation

OBJECTIVETo observe the spermicidal effect of alcohol extracts from different ratios of Sophora flavescens Ait/Chinese Bulbul in vitro.

METHODSSemen samples aseptically obtained by masturbation and prepared by density gradient centrifugation from 15 healthy men were incubated in the alcohol extracts from 9 different ratios of Sophora flavescens Ait/Chinese Bulbul for 20 seconds, 2 minutes and 4 minutes. Then the motility and movement parameters of the sperm were detected by computer-assisted semen analysis, and the minimal effective concentrations of the instant spermicidal effect of the extracts were determined.

RESULTSAt the ratio of 3:1, the extract at 0.5 mg/ml significantly inhibited the sperm motility and other sperm movement parameters VCL, VSL, VAP, ALH, WOB and MAD, as compared with the control group. The minimal effective concentration of the instant spermicidal effect of the extracts was 3.5 mg/ml at 3:1.

CONCLUSIONThe alcohol extracts from Sophora flavescens Ait and Chinese Bulbul at the ratio of 3:1 have the best spermicidal effect in vitro.

Adult ; Humans ; Male ; Plant Extracts ; pharmacology ; Pulsatilla ; Semen Analysis ; Sophora ; Sperm Motility ; drug effects ; Spermatocidal Agents ; pharmacology ; Spermatozoa ; drug effects ; Young Adult

BACKGROUNDGlucose regulated protein 78 (GRP78), an endoplasmic reticulum (ER) chaperone, plays a critical role in chemotherapy resistance in a variety of cancers. In this study, we investigated the up-regulation of GRP78 induced by A23187 and its association with the chemotherapeutical sensibility to cisplatin in human lung cancer cell line SPCA1.

METHODSSPCA1 cells were pretreated with A23187 at different concentrations. The expression of GRP78 at the mRNA level was analyzed by RT-PCR; the expression of GRP78 at the protein level was determined by Western blotting and immunofluorescence assay. Cell survival was determined by MTT assay. Cell apoptosis was analyzed by flow cytometry.

RESULTSThe expression of GRP78 at both the mRNA and protein levels was obviously induced by A23187 in SPCA1 cells, with an elevation of GRP78 by 2.1-fold at the mRNA level and by 3.8-fold at the protein level compared to the control. There was a dose-dependent response. Survival curve analysis demonstrated that A23187 induction caused a significant reduction of survival for the cells subjected to cisplatin treatment (P < 0.05). After treatment by cisplatin, the percentage of apoptotic cells in the A23187 pretreated group increased about three fold compared with the control group ((27.53 ± 4.32)% vs. (9.25 ± 3.64)%, P < 0.05).

CONCLUSIONSA23187 treatment was fairly effective for the induction of GRP78 in SPCA1 cells at both the mRNA and protein levels. To a certain extent, GRP78 up-regulation by A23187 was associated with the enhancement of drug sensitivity to cisplatin in human lung cancer cell line SPCA1.

Antineoplastic Agents ; pharmacology ; Apoptosis ; drug effects ; Blotting, Western ; Calcimycin ; pharmacology ; Cell Line, Tumor ; Cisplatin ; pharmacology ; Flow Cytometry ; Heat-Shock Proteins ; genetics ; metabolism ; Humans ; Lung Neoplasms ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction

To establish a systematic site-specific metastatsis model of human hepatocellular carcinoma (HCC) in nude mouse. HCCLM3-R cells were seeded into mice liver to establish xenograft mouse models. With the help of RFP, metastasis foci in lungs and lymph nodes in mice were detected using fluorescent stereomicroscopy and were removed. Cells derived from the metastasis foci were named HCCLM3-R-LM1 and HCCLM3-R-LnM1 respectively. HCCLM3-R-LM1 and HCCLM3-R-LnM1 cells were seeded into mice livers to analyze the lung and lymph node metastasis. Lungs of all tested mice were collected, examined by pathological evaluation and counted lung metastasis. Both lung and lymph node metastasis were found in HCCLM3-R-LM1, HCCLM3-R and HCCLM3-R-LnM1 cells and a significant difference was found between the lung and the lymph node metastasis levels in the three cells. The fluorescent areas (pixels) of lung and lymph node metastasis were 8687.00+/-1844.63 versus 2570.00+/-318.20 (P = 0.0031) in HCCLM3-R-LM1 cells, 6457.67+/-832.62 versus 10 994.33+/-2 212.31 (P = 0.0036) in HCCLM3-R cells, and 2968.67+/-2571.00 versus 24 416.00+/-7 186.13 (P = 0.0094) in HCCLM3-R-LnM1 cells, respectively. The middle numbers of microscopic lung metastatic foci were 775, 430 and 310 in HCCLM3-R-LM1, HCCLM3-R and HCCLM3-R-LnM1 cells (P less than 0.001), respectively, consist with the results quantified by RFP. We established the systematic site-specific metastasis models which demonstrates lung- and lymph node-specific metastasis potential in nude mice and can be used as a model for researches on site-specific metastasis of HCC.

OBJECTIVETo observe the effect of fluid shear stress on the eNOS gene expression and NO production in endothelial progenitor cells (EPCs).

METHODSThe peripheral blood mononuclear cells from healthy volunteers were inducted into EPCs and divided into stationary group (0 dyn/cm(2), 1 dyn/cm(2) = 0.1 Pa), low-flow shear stress group (5 dyn/cm(2)), medium-flow shear stress group (15 dyn/cm(2)) and high-flow shear stress group (25 dyn/cm(2)). The effects of shear stress on the endothelial nitric oxide synthase (eNOS) gene expression and nitric oxide (NO) production in human EPCs were measured.

RESULTSTypical "spindle-shaped" appearance was shown in EPCs derived from peripheral blood mononuclear cells and were positively labeled by acetylated-LDL, lectin, FLK-1 and vWF. After 4 hours treatment with various shear stresses, the ratio of eNOS/beta-actin mRNA expression by human EPCs in low, medium and high-flow shear stress group was 0.364, 0.505 and 0.548 respectively, which was significantly higher than that in stationary group (0.183, all P < 0.05) and the NO secretion in human EPCs in low, medium and high-flow shear stress group was also significantly higher than that in stationary group (all P < 0.05).

CONCLUSIONFluid shear stress enhances the eNOS mRNA expression and NO secretion in human EPCs, therefore, shear stress could potentiate the repair efficacy of EPCs for endothelial injury.

Cell Differentiation ; Cells, Cultured ; Endothelial Cells ; cytology ; metabolism ; secretion ; Humans ; Nitric Oxide ; metabolism ; Nitric Oxide Synthase Type III ; genetics ; metabolism ; Stem Cells ; cytology ; metabolism ; secretion ; Stress, Mechanical