[Summary] Microcephalic or Majewski's osteodysplastic primordial dwarfism type Ⅱ ( MOPD Ⅱ) is an extremely rare genetic disease mainly caused by pericentrin ( PCNT) gene mutations. This paper reported one 13-year-old boy, who was admitted because of the slow growth for more than 13 years and deepened skin color over six months. He was diagnosed as MOPD Ⅱ associated with a combination of growth hormone deficiency, type 2 diabetes, hypertension, acanthosis nigricans, multiple café-au-lait spots. On magnetic resonance imaging of brain, no vascular malformations such as aneurysms were shown. There were novel compound heterozygous mutations of PCNT gene in the patient, with the nonsense mutations of c. 502C > T ( p. Gln168 * heterozygous variation) and c. 3103C > T (p. Arg1035* heterozygous variation). His father carried a nonsense mutation c. 3103C > T ( p. Arg1035 *heterozygous variation ) and his mother had a nonsense mutation c. 502C > T ( p. Gln168 * heterozygous variation). After treatment with metformin for three months, his blood glucose returned to normal, and acanthosis nigricans was improved. It seems critical to evaluate the abnormal condition of blood vessels regularly for MOPD Ⅱpatients with PCNT gene mutations.

Objective: Blue dye was one of the methods for sentinel lymph node biopsy in breast cancer, but the success rate was affected by multiple factors. This study was to determine the related factors contributing to the success of sentinel lymph node biopsy in breast cancer using blue dye method. Method:From Jan. 2007 to Aug.2008, sentinel lymph node biopsy was performed by periareolarly injecting 1% methylene blue in 141 breast cancer patients followed by axillary clearance. Pathological diagnosis was performed for all of the lymph nodes by conventional HE staining. Unconditional logistic regression was applied to make both univariate and multiva-riate analysis. Results:Sentinel lymph node was successfully detected in 126 patients. But the biopsy was failed in the 15 patients. The success rate was 89.4% and the false negative rate was 6.82%. Univariate analysis showed that success rate of biopsy was in association with patients' age, body mass index (BMI), tumor size, preoperative axillary node's status, pathological grade as well as ≥4 positive axillary lymph nodes involved. Multivariate analysis indicated that the patients'age (OR=4.587, P=0.024), BMI (OR=4.882, P=0.011) as well as 4 or more of the axillary nodes involved (OR=3.143, P=0.013) were independent predicting factors for the success of sentinel lymph node biopsy. Conclusions:Methylene blue dyeing is a reliable method for sentinel lymph node biopsy. The rate of success is associated with patients' age, BMI as well as the number of metastases in axillary lymph nodes.

Background: Dampness-heat syndrome is a major syndrome type in patients with a sharp deterioration of chronic renal failure (CRF). Qingshen Decoction, a compound traditional Chinese herbal medicine, could relieve the clinical symptoms of CRF patients, and was considered to have a certain reversal effect on rapid deterioration of renal function. Objective: To observe the changes of serum interleukin-8 (IL-8) and IL-18 levels in CRF patients with a sharp deterioration and dampness-heat syndrome, and to explore the curative efficacy of Qingshen Granule. Design, setting, participants and interventions: Sixty CRF patients with a sharp deterioration and dampness-heat syndrome from Department of Nephrology, the First Affiliated Hospital of Anhui College of Traditional Chinese Medicine, were randomly divided into treatment group (30 cases) and control group (30 cases), with another 20 healthy individuals as normal control. The patients in the treatment and control groups were all treated with Jiedu Xiezhuo II, a compound traditional Chinese herbal medicine, given as retention enema. Qingshen Granule was additionally administered to the patients in the treatment group with 1 dosage each time and 3 times a day. The treatment course was one month. Main outcome measures: The levels of serum IL-8 and IL-18 in the normal individuals and before and after treatment in the treatment and control groups were detected. Results: The total response rates of treatment group in clinical efficacy assessment and assessment of syndrome of traditional Chinese medicine (86.67% and 86.67%) were higher than those of the control group (56.67% and 60%), and there were significant differences between the two groups (P<0.05). The levels of serum IL-8 and IL-18 in CRF patients before treatment were obviously higher than those in the healthy individuals (P<0.01), and there were no differences in the levels of IL-8 and IL-18 before treatment between the treatment group and control group (P>0.05). After one-month treatment, the levels of serum IL-8 and IL-18 were markedly decreased in the two groups (P<0.01), and the levels of serum IL-8 and IL-18 in the treatment group were markedly lower than those in the control group (P<0.05). There were differences in decreased degrees of IL-8 and IL-18 levels between the two groups (P<0.05). Conclusion: CRF patients with a sharp deterioration and dampness-heat syndrome have high serum IL-8 and IL-18 levels. Qingshen Granule can reduce the levels of serum IL-8 and IL-18, and improve the renal function and ameliorate the clinical symptoms.

Background and purpose: 18F-FDG has been considered to be of limited value for the detection of bladder lesions because of interference by the 18F-FDG excreted in urine. Delayed pelvic images with“diluted and iflled bladder”use a method of 18F-FDG PET/CT with delayed images after oral hydration so as to increase the detection rate of 18F-lfuorodeoxyglucose(FDG) PET/CT imaging for the lesions of bladder. Methods:48 patients with bladder lesions(35 patients with bladder primary tumor and 13 patients with metastatic tumor) underwent 18F-FDG PET/CT detection and were required oral hydration of 1200-1800 mL water, urination frequently, holding urine when the more scan began. Lesions conifrmed by histopathology, MRI, CT or clinical follow-up at least 1 year. Results:89%(43/48) of patients were obtained good clearance and the urine SUVmax declined from 33.14(9-66.80)to 3.23(1.35-5.65) signiifcantly and the statistical difference was signiifcant (t=8.703, P<0.01). The interval time between two scan was 2 h approximately. At the same time, the SUVmax of bladder lesion was 2.8-25.0. Detection sensitivity, speciifcity and accuracy were 90.47%(19/21), 81.48%(22/27)and 85.41%(41/48), respectively. Conclusion: 18F-FDG activity in the bladder signiifcantly decreased in most patients with“diluted and iflled bladder”. The PET/CT scan can highly detect lesions of bladder tissues. Our method with high accuracy and better endurance could be applied to detect the lesions in bladder.

This paper introduces a brand-new three-way trachea tube reinforced by steel.It has a three-way junction.The main tube has the function of ventilation and connection,while the side tube which can be connected to oxygen-breath tube is used for the autonomic breath of the patient or for nurses to draw secretions.Furthermore,the steel wire is inserted in the tubes in case it is snapped.

To assess the correlation between thyroid function and glucolipid metabolism in type 1 diabetic adults. A retrospective analysis was conducted in 230 type 1 diabetic adults who were hospitalized in the Department of Endocrinology of Shandong Provincial Hospital Affiliated to Shandong University from January 2008 to January 2020. It showed that thyroid stimulating hormone(TSH) was significantly positively correlated with total cholesterol (TC) ( r=0.239), triglycerides (TG) ( r=0.166) and low-density lipoprotein cholesterol (LDL-C) ( r=0.249), respectively (all P<0.05). Free triiodothyronine (FT 3) was significantly negatively correlated with fasting plasma glucose (FPG) ( r=-0.272), glycated hemoglobin (HbA1c) ( r=-0.240), TC ( r=-0.197) and LDL-C ( r=-0.220), respectively (all P<0.05). Free thyroxine (FT 4) was negatively correlated with TC ( r=-0.171) and LDL-C ( r=-0.170), respectively (all P<0.05). TC was an independent predictor of TSH, FT 3 and FT 4, FT 3 and FT 4 were independent predictors of HbA1c. TSH was an independent predictor of TC, TG and LDL-C. Thyroid function is closely related to glucolipid metabolism in type 1 diabetic adults.

AIM:To investigate the expression of extracellular matrix metalloproteinase inducer(EMMPRIN)and hepatocyte growth factor(HGF)in non-small-cell lung carcinoma(NSCLC)and their relationship with lymphoid metastasis and prognosis.METHODS:Expression of EMMPRIN and HGF in 77 cases of patients with NSCLC was detected immunohistochemically.The relationship of expression of EMMPRIN and HGF with tumor size,smoking,histological type,differentiation,lymphoid metastasis,clinical stage,and prognosis was analyzed.RESULTS:The expressive rates of EMMPRIN and HGF were 68% and 44%,respectively.The expressions of EMMPRIN and HGF were associated positively with lymphoid metastasis(r=0.371 and 0.339,P0.05).The expression of EMMPRIN was associated with the expression of HGF in NSCLC.CONCLUSION:The expression of EMMPRIN and HGF is associated with lymphoid metastasis and prognosis in NSCLC.Overexpression of EMMPRIN and HGF implies infavourable prognosis in NSCLC.

Objective To explore the correlation between phenotype and genotype of 5α-reductase 2 deficiency. Methods The clinical data of five children with 5α-reductase 2 deficiency were retrospectively analyzed and the relation between their clinical phenotype and genotype were analyzed. Results All of these five children presented small penis and testicular hypoplasia, three of whom had ones similar to the clitoris appearance. The testosterone/dihydrotestosterone (T/DHT) ratio was 10.26-64.99 after human chorionic gonadotropin (hCG) stimulation. Gene detection showed one case had c.680G>A homozygous mutation and the others were compound heterozygous mutations. The mutations were mainly missense mutations, followed by deletion, duplication and nonsense mutations. Conclusion The 5α-reductase 2 deficiency has different degrees of abnormal genital development. Genetic testing contributed to the diagnosis of this disease.

Objective To investigate the availability and strategy of breast reconstruction for patients with caesarotomy scar using pedicled TRAM flap.Methods From January 2007 to May 2011,12 cases of breast reconstruction with caesarotomy scar were carried out with pedicled TRAM flaps.All the patients that were classified as the class Ⅱ that was 0.5 or less by score were operated on by using the inverted trapezoid incision,of which the upper edge was 2 or 3 cm down to the umbilicus.Double pedicles were adopted for the patient with the longest vertical scar; single pedicle of the breast contralateral side and the muscle sheath of the breast ipsilateral side were harvested for the rest of the patients.A synthetic mesh was used for the enforcement of the muscle and sheath defect.Results No flap necrosis or abdominal complications were observed.With the follow-up from 3 months to 4 years and 4 months,the overall satisfactory rate was 100 ％.Conclusions The strict patient selection and the operating strategy are the keys to the successful breast reconstruction for patients with caesarotomy scar using pedicled TRAM flap.

Objective To explore the clinical manifestation and gene mutation of primary renal glucosuria (PRG). Methods The clinical data and gene detection results of a child with PRG were analyzed. Results A girl aged 2 years and 10 mouths had glucose ++++ by urine dipstick analysis and 22.4 g of the 24 h urine glucose. Her father was urine glucose positive. Genome DNA was extracted from peripheral blood of the girl and her parents, SLC5A2 gene were amplified by PCR for sequencing, including exons and splicing areas. The results showed a homozygous point mutation (c.127-16C>A) in girl, and both of her patents had the same heterozygous mutation. This mutation had been classified to pathogenic mutations by ClinVar data base. Conclusions The diagnosis of PRG is confirmed in this child and SLC5A2 gene mutation is the cause.