Objective The article was to analyze the features of gene mutation and clinical phenotype in Alport syndrome. Methods Next-generation sequencing was applied to capture the exons of COL4A3, COL4A4, COL4A5 genes in 30 cases of children with suspected or confirmed diagnosis of Alport syndrome and Sanger method was used to identify gene mutations of related family mem-bers.Provean database was applied in protein function prediction.We collected and analyzed clinical data of AS patients on the basis of gene mutation. Results All 30 children were diagnosed with AS by gene sequencing, among whom 4 boys were autosomal reces-sive inheritance, 16 boys and 10 girls were X-linked Alport syndrome.Next-generation sequencing detected 35 different gene mutations of COL4A3, COL4A4, COL4A5, including 19 missense mutations, 2 synonymous mutations, 4 splice-site mutations, 3 truncating mu-tations, 2 insertion mutations, 4 deletion mutations and 1 compound mutations.It was observed by Sanger sequencing that 20 mutations were inherited from the mother, 8 from the father, homozygous mutation in 1 propositus from the parents respectively, 8 novel mutations and 1 with unidentified source.All the 30 children had an onset of hematuria or proteinuria, 17 cases had a positive family history, 1 case had hearing loss, and no pathogenesis or renal insufficiency was found in the children.Renal biopsy was performed on 23 children, 13 minimal change disease ( MCD) and 10 mesangial proliferative glo-merulonephritis ( MsPNG) by light microscope.Extensive lamination and split of glomerular basement membrane dense layers were found in 9 children by electron microscope. Conclusion XLAS ac-counts for most AS patients and missense mutation is the main type in pathogenic mutations.Altogether, 31 mutations without disease notification were found.Most of children showed MCD in renal biopsy, with atypical electron microscope manifestations and rare extra renal manifestations.

Hereditary glomerular disease is an important part of kidney diseases .In recent years , hereditary glomerular disea-ses had a high incidence and poor prognosis .Thus, the studies involving hereditary glomerular diseases such as Alport syndrome , he-reditary nephritis syndrome and thin basement membrane disease , etc.have significant implications .This review mainly focuses on the pathogenesis , clinical features , diagnosis and treatment of Alport syndrome and hereditary nephritis syndrome .

Objective To evaluate the effectiveness of water jet debridement combined with negative pressure wound therapy (NPWT) for the treatment of early infection after fracture internal fixation.Methods The study cohort included 6 men and one woman with an average age of 43.6 years (range,from 36 to 58 years) who had presented with early infection after fracture internal fixation from October 2013 to March 2015.All the patients sustained closed fractures initially.The wound debridement was done within 3 to 5 days after the infection was confirmed.The length and depth of an incision was determined by the methylene staining range.Water jet was used to eliminate the dying tissues thoroughly from a shallower layer to a deeper layer while the internal fixator was retained.The wound was closed by full thickness sutures in a sparse fashion for drainage.Sensitive antibiotics were systematically administered for all the patients.The NPWT device was kept for 5 days.Results All the wounds healed uneventfully after an average of 18 days (range,from 10 to 25 days).The mean follow-up time was 12 months (range,from 8 to 24 months).No antibiotics were used during follow-up.There were no local or systematical symptoms like new sinus,broken wound or fever.Bony callus formed at the fracture sites after an average of 4.3 months (range,from 2.5 to 8.0 months) and no fracture nonunion happened.All the fractures healed after an average of 10.1 months (range,from 5.5 to 16.0 months).All the patients were satisfied with their treatment outcomes.Conclusion Since water jet provides simple,rapid and radical debridement while NPWT simplifies operative procedures and promotes wound healing,combination of the two can be an effective treatment for early infection after fracture internal fixation.

Objective To establish the quality standard of Yuling Tea for its quality control. Methods Astragalus, Fructus cnidii L, Schisandra chinensis and Lycii Fructus in Yuling Tea were identified by TLC. The content of Schisandrin was determined by HPLC. Welch Materials C18 column (250 mm×4.6 mm, 5 μm) with mobile phase of methanol-water (70∶30) was used. The detective wavelength was 250 nm. Results The TLC for identification was simple and special. Schisandrin showed a good linear relationship in 0.222-0.222 0 μg, r=0.999 9. The average recovery was 98.96%, and RSD was 0.74%. Conclusion The method can accurately determine the content of Schisandrin in Yuling Tea. It can be used for quality control of the preparation.

Basal rate verification is the process to find and verify the basal rate of continuous subcutaneous insulin infusion (CSⅡ) required for basal glucose metabolism.In the present study,five cases of brittle diabetes were treated by CSⅡ with Insulin Lispro.After doses were adjusted to reach steady blood glucose levels,basal rate verifying tests were carried out.The results showed that the overall level and stability of blood glucose were improved markedly after CSⅡ.Before and after the verification of the basal rate,there was no significant difference in CSⅡ total doses.Basal rates decreased from 50％ of total to 30％ (P＜0.05),and boluses increased to 70％ (P＜0.05).The basal rates during lunch and supper time were reduced by half (P＜0.05),the boluses of lunch and supper were increased 1.5 times (P＜0.05),and square waves were needed to control postprandial blood glucose.These results suggest that the CSⅡ could smoothly control blood glucose level in brittle diabetes without basal rate verification.However,the implementation of the verification could better determine the basal rates for basal glucose metabolism,and thus help to identify diet-related boluses.

This paper presents a case of post-pancreatitis diabetes mellitus with seriously damaged islet function. The blood glucose level was successfully controlled by continuous subcutaneous insulin infusion ( CSII )therapy both in short and long terms.

Objective To explore the expression and significance of hedgehog signal molecules (Ptch,Smo and Gli1 ) in chronic pancreatitis tissues in rats.MethodsSixty SD rats were randomly divided into CP group (n =50) and control group (n =10).DBTC solvent (8 mg · ml-1 · kg-1 ) was injected into the rat via tall vein in CP group.In control group,rats were treated only with the solvent at a dose of 1ml/kg body weight.All rats were sacrificed 6 weeks later to observe the pancreatic pathologic changes.Collagen accumulation in pancreatic sections was determined by staining for Sirius red.Expressions of Ptch,Smo,Gli1 mRNA and protein in pancreatic tissues were assessed by RT-PCR and immunohistochemistry.ResultsThe rate of chronic pancreatitis development in rats in CP group within six weeks was 73.9％.Collagen content was markedly higher in CP group than that in control group [ ( 38.52 ± 6.49 ) ％ ~s (7.37 ± 2.28 ) ％,P ＜ 0.05 ].No Path,Smo,Gli1 protein expression was observed in normal pancreatic tissues in control group.The positive rate of Ptch,Smo,Gli 1 expression was 73.5％,64.7％ and 52.9％ in CP group,and the difference between the two groups was statistically significant (P ＜ 0.05).The expressions of Ptch,Smo,Gli1 mRNA were 2.38 ±0.42,3.85 ± 1.03,4.63 ± 1.49 in CP group,which were significantly higher than those in control group (0.23 ±0.16,0.14 ±0.05,0.57 ±0.12,P ＜0.05).ConclusionsThe Ptch,Smo,Gli1 was highly expressed in pancreatic tissues in CP rats,suggests hedgehog messenger pathway may play an important role in the chronic inflammation and fibrosis of chronic pancreatitis.

Steroid-resistant nephrotic syndrome (SRNS) is a relatively difficult clinical type of treatment.The major therapy measures in present include steroid and immunosuppressant.Commonly used immunosuppressant include tacrolimus,cyclosporin,cyclophosphamide,mycophenolate mofetil,ect.Tacrolimus-induced clinical remission rate is superior to other immunosuppressive agents,has been the first-line agent of SRNS.Because of the individual difference in metabolism,the drug concentration of tacrolimus should be determined periodically.In order to obtain optimal efficacy of tacrolimus and reduce renal toxicity,the treatment protocols of small doses with long courses for children with SRNS were recommended.

This paper discussed in detail the external macro factors and internal key function mechanisms of the transformation and application system for appropriate health technologies in rural areas.The macro components include political factors,social factors,population factors,environmental factors and health policy factors.The internal key function mechanisms include policy mechanism,benefit mechanism and guarantee mechanism.

Around the core issue how to evaluate and test hypothesis, starting from the concept of hypothesis and scientific hypothesis, learning form recent progress and understanding at home and abroad, we have analyzed the type of scientific hypothesis, test methods and pre-mortem and post-mortem evaluation criteria in depth, established scientific vision and discipline ruler, explored the awareness level of the Chinese medicine hypothesis, pointed out the problems and gaps. Whereby, we have analyzed and demonstrated brain regulating five internal organs concept of wholism scientific hypothesis, and proven it belongs to the scientific hypothesis. We were confident that these works mentioned above would lead the theoretical reform changing Chinese medicine hypothesis from traditional description to the nature clarification.