ObjectiveTo report the clinical manifestations and genetic characteristics of a child with epilepsy caused by a de novo mutation in the HCN1 gene. MethodsThe clinical data and HCN1 gene mutation characteristics of a child with epilepsy admitted to our hospital in May 2020 were analyzed, and the relevant domestic and foreign literature were reviewed. ResultsA 7-month-old male child developed epileptic seizures for the first time, with various forms of seizures, beginning with atonic seizures, followed by febrile seizures, focal seizures, generalized tonic-clonic seizures, and absence seizures. During hospitalization, his cerebrospinal fluid (CSF), hematuria tandem mass spectrometry (HVMS), cranial imaging and other examinations showed no obvious abnormality. The results of genetic testing showed that there was a heterozygous missense mutation c.839A>C (p.Gln280Pro) in the second exon region of the HCN1 gene of the child, and neither of his parents carried the mutation, suggesting that the mutation is novel. According to the guidelines of America Society of Medical Genetics and Genomics (ACMG), the variation was rated as likely pathogenic. The child was diagnosed with HCN1 gene mutation-related epilepsy and was treated with a combination of levetiracetam and sodium valproate. The child’s epilepsy was well controlled and discharged when his condition was stable. Following up to now after discharge, the patient is prone to convulsions during the course of febrile disease, but his growth and development level is normal. Literature review shows that HCN1 gene mutation-related epilepsy is mainly de novo in patients, most of which are located in the 2nd and 4th exon regions. ConclusionsFor children with clinically unexplained early-onset epilepsy, gene sequencing should be performed as soon as possible to analyze possible genetic etiology, which will help confirm the diagnosis and guide treatment.
ObjectiveTo investigate effectiveness of picture archiving and communication systems (PACS) in lateral wedge osteotomy for cubitus varus deformity in teenagers.MethodsA clinical data of 16 teenagers with cubitus varus deformity between July 2014 and July 2016 was retrospectively analyzed. All patients were treated with lateral wedge osteotomy and fixed with plate. Before operation, the osteotomy design (the osteotomy angle and length) was done in the PACS, including the carrying angle of healthy limb and the varus angle of affected side. There were 10 males and 6 females, with an average age of 11.4 years (range, 10-17 years). The disease duration ranged from 2 to 10 years (mean, 5.6 years). The preoperative X-ray film showed that the supracondylar fractures of the humerus had all healed, and 9 cases had internal rotation deformity; the varus angle of the affected side was 19.5°-33.5°. After operation, the fracture healing and cubitus varus deformity correction were observed by X-ray films, the elbow function was evaluated by Mayo scoring, and the elbow range of motion was detected.ResultsThere was no significant difference between the actual intraoperative osteotomy angle and length and the preoperative design (P>0.05). The hospital stay was 2-8 days, with an average of 4.5 days. No complication such as incision infection or ulnar nerve injury occurred. All 16 cases were followed up 12-18 months, with an average of 14 months. X-ray films showed that the osteotomy healed at 2-7 months after operation, with an average of 2.5 months. The internal fixators were removed within 8-14 months after operation (mean, 12.0 months). X-ray films measurement showed that the carrying angle of the affected side recovered to (10.3±2.0)° at 1 day after operation, which was not significantly different from that of the healthy side [(10.6±1.5)°] before operation (t=0.480, P=0.637). The carrying angle of the affected side was (9.8±2.6)° at 1 year after operation, which was not significantly different from that of the healthy side [(10.4±1.6)°] at the same time point (t=0.789, P=0.438). At 1 year after operation, the ranges of flexion and extension of affected side were (131.6±8.4)° and (6.4±2.6)°, respectively; and the ranges of flexion and extension of healthy side were (134.2±6.3)° and (5.9±2.2)°, respectively. There was no significant difference between the healthy and affected sides (t=1.143, P=0.262; t=0.587, P=0.561). The elbow joint function at 1 year after operation evaluated by Mayo scoring standard rated as excellent in 9 cases, good in 6 cases, and fair in 1 case, and the excellent and good rate was 93.7%.ConclusionBefore lateral wedge osteotomy, the PACS is used to design the osteotomy angle and length, which can guide the operation and make the osteotomy more accurate and simple.
Objective To construct and screen neurite outgrowth inhibitory 66-samll interfering RNA (nogo66-siRNA) eukaryotic expression vectors of effective interference, so as to lay a foundation for further reconstruction of related viral vector. Methods The nogo66-siRNA fragments were designed and cloned into pGenesil-1.1, 4 plasmids of pGenesil-nogo66-siRNA-1, pGenesil-nogo66-siRNA-2, pGenesil-nogo66-siRNA-hk, and pGenesil-nogo66-siRNA-kb were obtained, sequenced and identified, then were transfected into C6 cell l ine. The transfection efficiency was measured by fluorescence microscope. RT-PCR and Western blot were used to detect the expression of nogo gene and select the plasmid of effective interference. Results DNA sequencing results showed interference sequences were correct. The bands of 800 bp and 4.3 kb were detected when pGenesil-nogo66-siRNAs were digested by Kpn I /Xho I. The expression of green fluorescent protein could be detected under fluorescence microscope, and the transfection efficiency was about 73%. RT-PCR and Western blot results showed that compared to non-transfected cells, the transfection of pGenesil-nogo66-siRNA-1 made the expression of nogo gene decl ine 22% and the expression of nogo protein decl ine 73%; the transfection of pGenesil-nogo66-siRNA-2 made the expression of nogo gene decl ine 28% and the expression of nogo protein decl ine 78%; the differences were significant (P lt; 0.05); and the transfection of pGenesil-nogo66-siRNA-hk and pGenesil-nogo66- siRNA-kb did not make the expressions of nogo gene and nogo protein decrease significantly (P gt; 0.05). Conclusion Nogo66-siRNA eukaryotic expression vector is successfully constructed, it lays an experimental foundation for repair of spinal cord injury.
Objective To analyze features of color Doppler ultrasonography in gastrointestinal stromal tumors. Method The ultrasound images of gastrointestinal stromal tumors (51 cases) and gastrointestinal cancers (59 cases) confirmed by operation and pathology were compared and analyzed. Results The gastric stromal tumor mainly occurred at the bottom of the stomach and the body of the stomach (17 cases), the intestinal stromal tumor mainly occurred at the small intestine (24 cases). The gastric cancer mainly occurred at the gastric antrum (18 cases), the intestinal cancer all occurred at the colon (20 cases) and rectum (12 cases). Compared with the gastrointestinal cancers, the gastrointestinal cavity was not surrounded by tumor, the peripheral boundary was clear, the morphology was more regular, the internal echo was uneven, and there was no peripheral lymph node metastasis in the gastrointestinal stromal tumors, the differences were statistically significant (P<0.05). There were no significant differences in the degree of blood flow and tumor diameter between the gastrointestinal stromal tumors and the gastrointestinal cancers (P>0.05), but the blood flow of the intestinal stromal tumor was significantly more abundant as compared with the intestinal cancer (P<0.05). Conclusion Color Doppler ultrasonography, as a simple and rapid method, has a certain diagnostic value for differentiation of gastrointestinal stromal tumors and gastrointestinal cancers.
Objective To investigate financial burden of in-patients with hypothalamus-pituitary-adrenal gland/gonad diseases in the West China Hospital of Sichuan University, 2011, so as to provide baseline data for further research. Methods The data of in-patients (who had been discharged from the department of endocrinology and metabolism or discharged after being transferred to other departments for diagnosis and treatment in the West China Hospital in 2011) were collected from the Hospital Information System (HIS) of the West China Hospital, including basic information, initial diagnosis when the patients were discharged, hospital costs, the information about whether the patients had been registered the insurance in hospital, etc. We classified diseases according to ICD-10 based on the initial diagnosis when the patients were discharged on the first page of case reports. The data were input using Excel 2010 software, and statistical analysis was performed using SPSS 13.0 software. Results The results showed that: in 2011, 352 person-times of in-patients with hypothalamus-pituitary-adrenal gland/gonad disease as first diagnosis were hospitalized in the department of endocrinology and metabolism, of which, 139 were male and 213 were female, with mean age of 42.9±15.0 years; and b) median hospital stay was 11 days, the average cost of hospital stay for each patient was RMB 4 361.09 yuan, most of which was for lab tests, examination, and biomedicine cost. Conclusion Hypothalamus-pituitary-adrenal gland/gonad diseases are an important health problem in the department of endocrinology and metabolism in a Triple-A Hospital. Most of hospitalization costs are for lab tests, examination, and biomedicine cost.
ObjectiveThe tissue engineered osteochondral integration of multi-layered scaffold was prepared and the related mechanical properties and biological properties were evaluated to provide a new technique and method for the repair and regeneration of osteochondral defect.MethodsAccording to blend of different components and proportion of acellular cartilage extracellular matrix of pig, nano-hydroxyapatite, and alginate, the osteochondral integration of multi-layered scaffold was prepared by using freeze-drying and physical and chemical cross-linking technology. The cartilage layer was consisted of acellular cartilage extracellular matrix; the middle layer was consisted of acellular cartilage extracellular matrix and alginate; and the bone layer was consisted of nano-hydroxyapatite, alginate, and acellular cartilage extracellular matrix. The biological and mechanics characteristic of the osteochondral integration of multi-layered scaffold were evaluated by morphology observation, scanning electron microscope observation, Micro-CT observation, porosity and pore size determination, water absorption capacity determination, mechanical testing (compression modulus and layer adhesive strength), biocompatibility testing [L929 cell proliferation on scaffold assessed by MTT assay, and growth of green fluorescent protein (GFP)-labeled Sprague Dawley rats’ bone marrow mesenchumal stem cells (BMSCs) on scaffolds].ResultsGross observation and Micro-CT observation showed that the scaffolds were closely integrated with each other without obvious discontinuities and separation. Scanning electron microscope showed that the structure of the bone layer was relatively dense, while the structure of the middle layer and the cartilage layer was relatively loose. The pore structures in the layers were connected to each other and all had the multi-dimensional characteristics. The porosity of cartilage layer, middle layer, and bone layer of the scaffolds were 93.55%±2.90%, 93.55%±4.10%, and 50.28%±3.20%, respectively; the porosity of the bone layer was significantly lower than that of cartilage layer and middle layer (P<0.05), but no significant difference was found between cartilage layer and middle layer (P>0.05). The pore size of the three layers were (239.66±35.28), (153.24±19.78), and (82.72±16.94) μm, respectively, showing significant differences between layers (P<0.05). The hydrophilic of the three layers were (15.14±3.15), (13.65±2.98), and (5.32±1.87) mL/g, respectively; the hydrophilic of the bone layer was significantly lower than that of cartilage layer and middle layer (P<0.05), but no significant difference was found between cartilage layer and middle layer (P>0.05). The compression modulus of the three layers were (51.36±13.25), (47.93±12.74), and (155.18±19.62) kPa, respectively; and compression modulus of the bone layer was significantly higher than that of cartilage layer and middle layer (P<0.05), but no significant difference was found between cartilage layer and middle layer (P>0.05). The osteochondral integration of multi-layered scaffold was tightly bonded with each layer. The layer adhesive strength between the cartilage layer and the middle layer was (18.21±5.16) kPa, and the layer adhesive strength between the middle layer and the bone layer was (16.73±6.38) kPa, showing no significant difference (t=0.637, P=0.537). MTT assay showed that L929 cells grew well on the scaffolds, indicating no scaffold cytotoxicity. GFP-labeled rat BMSCs grew evenly on the scaffolds, indicating scaffold has excellent biocompatibility.ConclusionThe advantages of three layers which have different performance of the tissue engineered osteochondral integration of multi-layered scaffold is achieved double biomimetics of structure and composition, lays a foundation for further research of animal in vivo experiment, meanwhile, as an advanced and potential strategy for osteochondral defect repair.
Objective To evaluate efficacy and safety of domestic Nateglinide tablet in comparison with domestic Repaglinide in Type 2 diabeties. Methods A multi-centre, double-blind, dummy trial was conducted.Two hundred and thirty type 2 diabetic patients recuited from 5 clinical centers were randomly allocated into Group A (domestic Repaglinide, 1.0 mg tid, n =115) and Group B (domestic Nateglinide, 90 mg tid, n =115).The trial consisted of a 4 weeksequilibrated period followed by 12 weeks treatment course. Results Ninety seven percent of patients(223) completed the trial (110 in Group A and 113 in Group B). The mean of fasting blood glucose (FBG) in both Group A and B was decreased statistically (P＜ 0.000 1) after 2, 6 and 12 weeks duration. At week 12, the mean FBG in Group A and B was reduced by 1.68±1.81 mmol/L (17.27%) and 1.17±1.67 mmol/L (12.53%) respectively with statistically significant difference between the two groups (P=0.017 7). The mean of 120 minutes postprandial blood glucose (PBG) also lowered markedly in 2, 6, and 12 weeks in both groups. At the end of therapy, PBG of 30, 60, 120 minutes were reduced significantly, mean of 120 minutes PBG was reduced 3.95±3.25 mmol/L (26.12%), and 3.81±3.05 mmol/L (26.22%) respectively in Group A and B , the differences in reduction between Group A and B had no statistical significance (P =0.726 9). In Group A and B, the mean of Alc was reduced significantly after 12 weeks duration. At week 12, the mean of Alc in Group A and B was lowered by 1.21% and 0.68% respectively, with statistical difference between the two groups (P =0.002 3). Though fasting insulin level in both groups had no change after 12 weeks duration, the insulin level at 30, 60 and 120 min increased significantly in both groups (P＜0.000 1). It suggested that both Nateglinide and Repaglinide promoted insulin secretion in early phase with maximal value at 60 min in Repaglinide group and 30 min in Nateglinide group, respectively. The adverse reaction rate in Group A including hypoglycemic reaction, thrombocytopenia and recrudescence of HBV was 4.5% when compared to only one case of thrombocytopenia in Group B (0.87%). Conclusions Both domestic Nateglinide and Repaglinide have similar effect on reducing postprandial blood glucose, but Repaglinide has ber effect on reducing FBG and A1c than Nateglinide. The results suggest that both domestic Nateglinide and Repaglinide are safe and generally well-tolerated in type 2 diabetic patients.
Multi-disciplinary team (MDT) is increasingly applied in oncology and refractory diseases. In recent years, MDT has also been applied in diagnosis and treatment of pituitary adenoma and related diseases. This review summarizes the advantages and characteristics of the MDT diagnosis and treatment mode, and analyzes the application and effect of the MDT diagnosis and treatment mode in the Center of Pituitary Adenoma and Related Diseases, West China Hospital, Sichuan University. So far, it has shown that MDT has advantages such as it is professional, full of collaborative interaction, and efficient and optimized. It is a platform of multi-disciplinary cooperation and resources in the diagnosis and treatment of difficult diseases. Case discussion in MDT mode is conducive to timely selection of the best treatment options for patients with pituitary adenoma and related diseases, providing a good learning platform for doctors with different professional backgrounds, and promoting the improvement of professional diagnosis and treatment level of doctors in related departments. The development of MDT will help us to use limited medical resources efficiently, promote the medical team to be more specialized, optimize the diagnosis and treatment process, and improve the effectiveness of the treatment, for benefiting more patients with pituitary adenomas and related diseases.