Objective To detect NF1 gene mutations in a patient with neurofibromatosis type 1 (NF1).Methods Polymerase chain reaction (PCR) and DNA sequencing were performed to detect mutations of the NF1 gene in a patient with NF1,his parents and 100 unrelated healthy controls.Results A novel frameshift mutation (c.3822delC) was identified in the patient,but not found in his parents or the unrelated healthy controls.Conclusion The novel frameshift mutation (c.3822delC) found in the patient is not a rare single nucleotide polymorphism (SNP),and may be a causative mutation for NF1 by affecting the function of the NF1 gene.

Objective To investigate the nutritional risk,undemutrition,and nutrition support in inpatients with early and middle stage gastrointestinal cancer undergoing radical surgery in a tertiary hospital in Weifang,Shandong Province.Methods A total of 8390 inpatients who were treated in the departments of oncological surgery,enterohepatic surgery,and general surgery in our hospital were consecutively recorded from December 2010 to August 2011 and from November 2011 to October 2012.After 153 patients were excluded for hospital length of stay less than 24 hours,age less than 18 years old or more than 90 years old,obnubilation,and/or refusal to participate in the research,8237 patients were sampled.After patients who did not meet the scheduled diagnosis were excluded,300 pathology-confirmed patients with early or middle stage gastrointestinal cancer were enrolled.Nutritional Risk Screening 2002 (NRS 2002) was performed within the first 48 hours after admission and nutrition support was evaluated until the discharge.Results A total of 300 early and middle stage gastrointestinal cancer patients (141 cases of gastric cancer and 159 cases of colorectal carcinoma) who underwent radical surgery met the inclusion criteria.Among them 185 (61.7％) were at nutritional risk.The undernutrition rate was 12.3％ (37/300) if evaluated from the score of nutritional defect part of NRS 2002,and 10.0％ (20/300) if based on body mass index ＜18.5 kg/m2.Totally 165 patients (89.2％) at nutritional risk and 99 patients (86.1％) without nutritional risk received nutrition support.The average ratio of parenteral nutrition to enteral nutrition was 82:1.The intake of calories was (78.1±24.8) k1/(kg,d) [(18.6±5.9)kcal/(kg·d)] and that of nitrogen was (0.10±0.06) g/(kg · d),yielding a ratio of calories vs.nitrogen of (244 ± 164)∶1.Conclusions Inpatients with early and middle stage gastrointestinal cancer tend to have high nutritional risk.The undernutrition rate is 10％-12.3％ in this population.Meanwhile,the application of nutrition support should be further standardized,particularly for patients without nutritional risk.