ABSTRACT
Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene (SMPD1). Here we present molecular findings for two sibling patients. One mutation V36A due to c.107T>C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A>G in exon 6 is a novel missense mutation. This non-fatal missense mutation leads to –20% residual lysosomal acid sphingomyelinase activity in vitro and only results in hepatosplenomegaly without neurologic involvement.
Subject(s)
Female , Humans , Middle Aged , Mutation, Missense , Niemann-Pick Disease, Type B , Genetics , Polymorphism, Single Nucleotide , Siblings , Sphingomyelin Phosphodiesterase , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To evaluate the effect of compound branch chain amino acid(BCAA) injection on nutritional support in patients after radical resection for colorectal cancer.</p><p><b>METHODS</b>Fifty patients with radical resection for colorectal cancer were randomly divided into two groups, and received compound branch chain amino acid (n=25) or compound amino acid(n=25) as control per day from postoperative day(POD)1 to POD 7. The levels of total protein, albumin, pre-albumin, transferring, nitrogen balance and complications were compared between the two groups.</p><p><b>RESULTS</b>On POD 8, the levels of albumin, pre- albumin, transferring were (36.12+/-3.16)g/L, (237.10+/-37.29)mg/L, and (2.18+/- 1.34)g/L in study group, and (30.61+/-3.55)g/L, (191.73+/-27.60)mg/L, and (1.71+/-0.84)g/L respectively in the control group(all P< 0.05). Nitrogen balance increased significantly from POD5, and increased to normal on POD 6 in study group, significantly higher than that in the control group (9.91+/-6.53 vs - 9.73+/-11.21, P=0.024). The complication rate of incision infection and delayed healing was 8.3% in study group, significantly lower than 38.1% in the control group(P< 0.05).</p><p><b>CONCLUSION</b>Compared with compound amino acid, compound branch chain amino acid injection can reduce proteolysis, correct negative nitrogen balance and promote wound healing.</p>
Subject(s)
Female , Humans , Male , Middle Aged , Amino Acids , Therapeutic Uses , Colorectal Neoplasms , Therapeutics , Nutritional Support , Methods , Postoperative CareABSTRACT
Objective To evaluate the effects of intraoperative intraperitoneal chemotherapy with sustained release 5-fluorouracil for implantation(5-Fu SRI) for the treatment of locally advanced colon cancer. Methods A total of 70 patients with locally advanced primary colon cancer(T4N0M0 and stage Ⅲ) undergoing radical resection were divided into treatment group(n=36,intraoperative intraperitoneal chemotherapy with 600mg 5-Fu SRI)and control group(n=34,intraoperative intraperitoneal flushing with 1000mg 5-fluorouracil injection). Both groups received the same postoperative chemotherapy regime.The 2-year survival rate,local recurrence rate and distant metastasis rate were retrospectively analysed. Results The 2-year survival rate and local recurrence rate were more favourable in treatment group than those in control group(P0.05). Conclusion Intraoperative intraperitoneal chemotherapy with 5-Fu SRI may decrease postoperative local recurrence rate and increase 2year survival rate.