Epidermal growth factor receptor (EGFR) mutations are the most common driver genes in the development of non-small cell lung cancer (NSCLC), of which mutations in exons 18-21 are frequent, especially the loss of exon 19 and exon 21 L858R mutation are the most frequent. Other rare gene mutations are rare. Simultaneous occurrence of two or more rare EGFR mutations are extremely rare in lung cancer, and the incidence of EGFR L833V/H835L rare gene compound mutations is very low, and there is little clinical data and evidence of relevant treatment methods. Some EGFR-tyrosine kinase inhibitors (EGFR-TKIs) are effective in treating lung cancer patients with rare gene mutations. In this article, we reported a case of NSCLC patient with a rare gene compound mutation EGFR L833V/H835L, who responded to Afatinib in combination with Anilotinib treatment well after 5 months of treatment, and computed tomography (CT) showed shrinkage of lung lesions. Meanwhile, we also compiled previously reported NSCLC patients with EGFR L833V/H835L rare gene compound mutation and summarized the characteristics of this group of patients and the effect of applying different kinds of EGFR-TKIs treatment.
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Humans ; Adenocarcinoma of Lung/genetics* ; Carcinoma, Non-Small-Cell Lung/pathology* ; ErbB Receptors/genetics* ; Lung Neoplasms/pathology* ; Mutation ; Protein Kinase Inhibitors/therapeutic use*

The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Due to the fact that some patients with SCD may be complicated with autoimmune diseases, the high early misdiagnosis and missed diagnosis rates are observed. One case of 13-year old female with severe anemia, multiple joint swelling and pain in left limbs and paralysis of bilateral lower limbs with the extremely low level of serum vitamin B12 and poly-glandular involvement as well as a variety of positive auto-antibodies (anti-intrinsic factor antibody, anti-parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti-neutrophil cytoplasmic antibody) was retrospectively analyzed. The patient was diagnosed as SCD with autoimmune disease (undifferentiated connective tissue disease and autoimmune polyglandular syndrome). The patient′s condition gradually alleviated after high-dose intravenous methylprednisolone, immunoglobulin, naproxen (then changed to hydroxychloroquine 1 month later), vitamin B12 and levothyroxine sodium tablets supplementation, blood transfusion and rehabilitation. SCD with autoimmune diseases is rare in children, and the clinical manifestations vary greatly. Early recognition and early treatment can improve the prognosis of SCD. The clinical data of this child were retrospectively analyzed, so as to improve the understanding of the disease by clinicians.

Objective To explore the value of hydronephrosis volume measured by 64 slice CT scan, evaluating renal function in patients with obstructive hydronephrosis.Methods The patients performed with both single photon emission computed tomography(SPECT) renal dynamic imaging and 64 slice CT scan in three days were chosen, 176 cases included finally.The images of renal dynamic imaging were divided into normal renal function group, mild renal impairment group, moderate renal impairment group and severe renal impairment group according to glomerular filtration rate (GFR) measured by SPECT.At the same time, CT three-dimensional reconstruction technique has been used to measure the volume of hydronephrosis, compare the differences of hydronephrosis volume among these groups, and future analyze the correlation of hydronephrosis volume with renal GFR value.Results The hydronephrosis volume of the four groups were respectively (31.47±3.81) cm3,(83.43±7.81) cm3,(208.53±15.47) cm3 and (577.31±61.32) cm3.There was statistical significance among these groups (P<0.01),except between normal renal function group and mild renal impairment group.The volume of hydronephrosis showed positive correlations with renal GFR (r=-0.614).Conclusion The volume of hydronephrosis measured by 64 slice CT has positive correlation with GFR measured by SPECT, which could reflect renal function to some extent.

Objective To study the clinical significance of monitoring the urine iodine level in pregnant women.Methods The urine iodine levels were detected in 391 cases of pregnant women.The relativity was analyzed among the pregnancy gestation,pregnancy complications and the urine iodine levels.The corresponding health educa-tion of iodine nutritional knowledge was conducted according to the results of the determination.Results (1 )The urine iodine value was (124.73 ±70.61)μg/L in 391 pregnant women.The severe deficiency iodine rate,deficiency iodine rate and appropriate iodine rate of pregnant women were 37.85%,64.70% and 25.06%,respectively.(2) There was no significant difference in values of urine iodine among the pregnant women during the first,second and third trimester of pregnancy[(121.76 ±71.81)μg/L,(125.52 ±69.28)μg/L,(129.30 ±75.19)μg/L](t≤0.59, all P >0.05).The mean values were all lower than the appropriate values of WHO(150 ~249 μg/L).The low iodine rates were 67.20%,63.23% and 65.12%,respectively.There was no significant difference among them(χ2 =0.56, P >0.05 ).(3 )The urine iodine value of the pregnant women complicated with hyperthyroidism [(85.76 ± 53.09)μg/L]was significantly lower than that of primary hypothyroidism combined with pregnancy [(133.65 ± 73.41)μg/L],pregnancy combined with subclinical hypothyroidism[(136.50 ±79.19)μg/L]and no pregnancy complication[(119.34 ±66.43)μg/L](t≥2.76,P <0.01).The rate of iodine deficiency(87.88%)was highest (χ2 =8.72,P <0.05).(4)The urine iodine value after iodine nutrition intervention was significantly higher than those before in 77 pregnant women[(129.74 ±68.04)μg/L vs.(107.01 ±74.36)μg/L,t =1.98,P <0.05].The iodine deficiency rate dropped from 79.22% to 63.64%(χ2 =4.58,P <0.05).Conclusion In order to improve the appropriate iodine rate of pregnant women,it should be very important significance on monitoring the urine iodine level of pregnant women in particular with a complication of pregnancy and conducting iodine nutrition intervention in whole pregnancy gestation.

Objective To verify the correlation between rs17118 polymorphism of xyluloknase homolog (XYLB) gene and risk of ischemic stroke in a Chinese Han population.Methods A case-control study design was used.The case group was the patients with first-ever ischemic stroke and the control group was the healthy subjects from hospital physical examination.Taqman probe fluorescence quantitative polymerase chain reaction technique was used to detect the genotype distribution of rs17118 C/A polymorphisms.Results A total of 475 patients with ischemic stroke and 483 controls were enrolled in the study.The proportion of hypertension (67.9％ vs.22.2％;x2 =292.982,P ＜ 0.001) and diabetes (24.2％ vs.7.3％;x2 =25.864,P ＜ 0.001),as well as the levels of triacylglycerol (1.649 ± 1.126 mmol/L vs.1.157 ±1.480 mmol/L;t=3.592,P＜0.001),and low-density lipoprotein cholesterol (3.499 ± 1.163 mmol/L vs.3.105 ± 0.627 mmol/L;t =-6.227,P ＜ 0.001) in the case group were significantly higher than those in the control group,but the total cholesterol level was significantly lower than that in the control group (5.144 ± 1.296 mmol/L vs.5.491 ± 1.335 mmol/L;t =4.650,P ＜ 0.001).The AA genotyp e (11.4％ vs.7.5 ％;x2 =6.136,P =0.016) and A allele (32.3 ％ vs.26.4％;x2 =8.093,P =0.005) frequencies in the case group were significantly higher than those in the control group.Multivariatelogistic regression analysis showed that after adjusting for traditional risk factors,the risk of ischemic stroke in AA genotype carriers was 1.97 times of the CC genotype carriers (odds ratio 1.971,95％ confidence interval 1.040-3.736,P=0.038).Conclusions The rsl7118C/A polymorphism of XYLB gene may be associated with the risk of ischemic stroke in the Chinese Han population.

Objective To evaluate the value of whole body 18F-FDG PET/CT in detecting small intestine adenocarcinoma (SIA).Methods A retrospective study of 18F-FDG PET/CT was performed on 29 cases (male 17,female 12) of SIA,21 cases of small intestine lymphoma (SIL) (male 15,female 6) and 10 cases of small intestine tuberculosis (SIT) (male 4,female 6).Visual and semi-quantitative methods (SUVmax) were used to summarize and analyse the 18F-FDG PET/CT resutls.One-way analysis of variance and x2 test were used to analyze the data.Results (1) 18F-FDG PET/CT for SIA showed a partially conglomerate pattern of hypermetabolic small bowel masses with nodular configurations.A typical SIL showed a partially annular abnormal growth with aggregated foci of radioactivity.SIT lesions were usually in form of stripes and/or nodules with high metabolic foci or lesions withskipped distribution.The SUVmax of SIA (8.44±3.82) was significantly lower than that of SIL (11.54±4.02; F=86.96,t=2.77,both P＜0.01),but not significantly different when compared with SIT (8.61±2.99; t=0.11,P＞0.05).(2) The incidence rates of peri-lesion lymph node enlargement in SIA,SIL and SIT were 72.41％ (21/29),85.71％ (18/21) and 70.00％ (7/10),respectively (x2 =1.50,P＞0.05).The SUVmax of peri-lesion lymph nodes in SIA (5.59±2.86) was significantly lower than that of SIL (11.10±5.72; F=56.56,t=3.85,both P＜0.01),but was not significantly different when compared with SIT (5.63± 3.36; t =0.30,P＞ 0.05).The detection rate of PET/CT on pefi-lesion lymph node enlargement of SIA was higher than CT (41.38％,12/29; x2 =5.69,P＜0.05).(3) The incidence rate of extra-intestinal metastases was 55.17％ (16/29) in SIA,and the most common metastatic sites were liver,bone and adrenal gland.The incidence rate of extra-intestinal lesions was 66.67％ (14/21) in SIL,most commonly presented as widespread multifocal nodal permeation.Extra abdominal tuberculous loci were found in 80.00％ (8/10) of SIT.The incidence rates of extra-intestinal involvement were not significantly different among SIA,SIL and SIT (x2=2.13,P＞0.05).(4) Among the 29 SIA cases,15 (51.72％) involved the ileum,8 (27.59％) jejunum,4 (13.79％) both jejunum and ileum,and 2 (6.90％) both jejunum and duodenum (x2 =18.16,P＜0.01).(5) Among the 29 SIA cases,primary SIA was found in 8 cases (27.59％),double primary in 7 cases (24.14％) and metastatic SIA in 14 eases (48.28％).(6) Based on the clinical data,pathological results and clinical follow-up,the diagnosis of SIA by 18F-FDG PET/CT had a sensitivity and specificity of 93.10％ (27/29) and 80.00％ (8/10),respectively.Conclusions 18F-FDG PET/CT is useful for the differential diagnosis of S1A and for supporting the diagnosis of single primary,multi-primary and metastatic SIA.

Objective To evaluate the clinical value of the upper extremital artery supply and vein running back in the patients after peripheral vascular surgery by Na99mTcO4 trace imaging(TTI).Methods SPECT static imaging was performed on 36 patients after peripheral vascular surgery in vein injecting Na99mTcO4 740 MBq 5min.The radioactivity uptake of operated limb(finger)/normal limb(finger) ratio(T/NT) was analyzed using region of interest analysis.0,Ⅰ,Ⅱand Ⅲ scales were classified according to their radionuclide distribution and T/NT,were divided into A,B,C and D group,respectively.Localy warming and anticontrctive therapy were only given in A and B group for 30min,routine therapy in C group,and raising operated limb (finger) and reductive pressure treatment in D group.Then,exploratory surgery was performed on 0 scales and Ⅲ scales of TTI again.Results A,B,C and D group were 11,7,13 and 5 patients,their T/NT was (0.142 ± 0.058),(0.384 ± 0.046),(0.794 ± 0.072) and (1.12 ±0.076),respectvely,and there were significant differences among the groups(t =2.33a,4.33b,6.90b,2.59a,5.73b,2.12a,aP ＜ 0.05,b P ＜ 0.O1) ;TTI again showed:there were 7 cases of 0 scales (arterial thrombosis was confirmed by exploratory surgery) and 4 cases of Ⅰ scales in A group,3 cases of Ⅰ scales and 4 cases of Ⅱ scales in B group,all 13 cases of Ⅱ scales in C group,4 cases of Ⅱ scales and 1 case of Ⅲ scales(vein thrombosis was confirmed by exploratory surgery) in D group.Conclusion TTI could play an important role in economical,simple and notraumatic diagnosing the extremital artery supply and vein running back in the patients after peripheral vascular surgery.

Objective To investigate the clinical value of the decfion of percentage of pulmonary perfusion defect score (PPDS％) in patients with pulmonary embolism (PE).Methods A retrospective study was carried out on PPDs％ data of patients(n =36) with clinical confirmed PE.The patients were divided into three levels:low (PPDS％ ＜30％),medial (30％ ≤PPDS％ ＜50％) and high (PPDS％ ≥50％) risk groups,according to the standard of PPDs％ diagnosis.the PPDS％ and the incidence rate of the clinical adverse events were compared in mild,moderate and severe risk PE.The therapeutic results were compared with the PPDS％ changes.Results The mild,moderate and severe risk patients with PE were 15 cases,13 cases and 8 cases respectively,according to the standard of PPDS％ diagnosis.16 cases,12 cases and 8 cases respectively,according to the standard of 2008 ESC APE diagnosis and treatment guidelines.The uniform rate was 94.4％ for two methods,the uniform rate was 100.0％ in which high risk of PE.The PPDS％ of PE was (46.2 ± 4.6) ％ before treatment.The data was significantly higher than that post treatment (31.6％ ± 1.8％) (t =17.38,P ＜ 0.01).The scores of low,medial and high risk patients were (25.9 ± 3.9) ％,(45.6 ± 4.3) ％ and (58.4 ± 4.9) ％ (t =6.18,P ＜ 0.01),respectively.The mild,moderate and severe risk PE according to the PPDS％ standard with clinical adverse events for were 1 cases (6.5％),3 cases (23.0％) and 5 cases (62.5 ％) respectively,with a significant difference (x2 =8.71,P ＜ 0.05).Conclusion PPDS％ could be used as an important reference index for risk stratification of diagnosis,evaluating therapeutic efficiency and predicting the prognosis in patients with PE.

Objective To study the relationship between the 18F-FDG PET/CT whole body imaging characteristics and pathologic features of small intestine primary malignant neoplasms.Methods A retrospective study was carried out on 18F-FDG PET/CT data of patients(n =44)with small intestine disease(25 malignant,19 benign).All results were proved by pathologiy,or diagnostic therapy and/or clinical follow-up.The intestinal wall thickness(IWT)and maxium standardized uptake value(SUVmax)were used to analyze the imaging features under different pathological conditions.Results(1)The incidence rate of local tumor formation for benign and malignant intestinal lesions was 31.6％ and 84.0％(x2 =10.40,P ＜ 0.01),respectively.The IWT was(0.75 ± 0.32)cm and(1.42 ± 0.20)cm(t =2.66,P ＜ 0.01),respectively.The S UVmax was(5.17 ± 3.04)and(9.65 ± 5.48)(t =2.88,P ＜ 0.01),respectively.The incidence rate of enlargement of mesenteric lymph nodes for benign and malignant intestinal lesions was 52.6％ and 72.0％(x2 =1.01,P ＞ 0.05),respectively.The SUVmax was(4.80 ± 1.91)and(7.00 ± 5.61)(t =1.11,P ＞ 0.05),respectively.(2)The metastasis incidence rate of other organs for intestinal malignant lesions was 44.0％.The most common metastasis organs were liver(28.0％),distant lymph nodes(20.0％)and bone (16.0％).The most pathological type of intestinal malignant lesions were malignant lymphoma(44.0％),adenocarcinoma(32.0％).The IWT was(1.41 ± 0.59)cm and(1.36 ± 0.62)cm(t =0.18,P ＞ 0.05),respectively.The SUVmax was(12.49 ± 7.00)and(7.93 ± 2.82)(t =7.55,P ＜ 0.01),respectively.The metastasis incidence rate was 9.1％ and 62.5 ％(x2 =3.89,P ＜ 0.05),respectively.(3)Taking the intestinal local tumor formation and SUVmax andnot less than 4.2 0 wall thickening,and / or metastasis as the main basis of the intestinal malignant lesions,the sensitivity,specificity and accuracy were 96.0％,94.7％ and 95.4％,respectively.The main pathological type of false positive for '8F-FDG PET/CT imaging was intestinal tuberculosis,and false negative was signet(f)ing cell carcinoma.Conclusion 18F-FDG PET/CT imaging has a higher clinical diagnosis value in differentiating small intestine primary malignant carcinoma from benign ones.The size and SUVmax of perifocus lymph nodes could not point out its malignant degree.The 18F-FDG uptake of the lesions is correlated with pathological type.The IWT is not correlated with pathological type.

Objective To investigate the clinical value of percentage of pulmonary perfusion defect score ( PPDs％ ) for risk stratification and prognosis evaluation in patients with acute pulmonary embolism (APE).Methods A retrospective study was carried out on PPDs％ data of patients( n =21 ) with confirmed APE from January 2001 to December 2008.The patients were divided into three levels,low( n =10),medial( n =7) and high risk groups( n =4),according to 2008 ESC APE diagnosis and treatment guidelines.The reference index in predicting risk stratification by PPDs％ was ascertained.34 patients with confirmed APE were divided into three levels ( mild,moderate and severe risk levels) according to the standard of PPDS％ diagnosis from January 2009 to June 2011.A prospective study on the incidence rate of the clinical adverse events was performed.Results The PPDs％ of low,medial and high risk levels according to 2008 ESC guidelines were (25.94 ± 3.95 ) ％,(45.63 ± 4.38 ) ％ and ( 58.42 ± 4.96 ) ％ respectively,with a significant difference ( t ≥4.755,P ＜ 0.01 ).The standard of PPDS％ diagnosis for risk stratification was confirmed in APE:low risk levels:PPDs％ ＜ 30％,moderate:30％ ≤ PPDs％ ＜50％,and high:PPDs％ ≥50％.The mild,moderate and severe risk patients with APE were 17cases,11cases and 6cases respectively,according to the standard of PPDs％ diagnosis,or 15cases,13cases and 6cases respectiveldy,according to the standard of 2008 ESC guidelines.The uniform rate was 94.11％ for two methods; the uniform rate was 100.00％ in which high risk of APE.The mild,moderate and severe risk patients with APE according to the standard of PPDs％ standard with clinical adverse events for were 1case (5.89％ ),3cases (27.27％ ) and 4cases (66.67％ ) respectively,with a significant difference ( x2 =9.23,P ＜0.01 ).Conclusions PPDs％ could be used as an important reference index for risk stratification of diagnosis,selecting therapeutic programs,evaluating therapeutic efficiency and predicting the prognosis in patients with APE.