Medical genetics had been generally considered as a young branch of genetics thirty years ago. However, ithas been playing a more significant role in exploring the basic mechanismof almost all kinds of diseases, improvingthe diagnosis and treatment, as well as preventing them nowadays. It absorbs all the research methods and method-ology of genetics. At the same time, it derives lots of branch subjects as a result of the diversity and complexity ofdisease types. In addition, the duty of medical genetics includes taking research products into practice to serve pa-tients also makes it possess strong vital force. In the new century, one important trend of medical research is totransform the basic research production into clinical practice, which is called as“translational medicine”.

Approxmately 97% of all transcriptional output of the human being is noncoding RNA(ncRNA),which has been found to play roles in a great variety of processes,and is becoming more andmore attractive.This review is a general intruduction to the concept,classification and functions ofncRNA.

Objective To investigate the risk factors for carotid artery atherosclerosis in young and middle-aged patients with ischemic stroke and the effect of serum lipoprotcin(a) [(Lp (a)] level on young and middle-aged patients with ischemic stroke.Methods Patients with ischemic stroke between the ages of 18 to 55 were enrolled.Carotid artery ultrasonography was used to evaluate the degree of carotid artery atherosclerosis,and the concentrations of serum total cholesterol,triglycerides,high density lipoprotein cholesterol,low density lipoprotein cholesterol,very low density lipoprotein cholesterol,apolipoprotein A1,apolipoprotein B and Lp(a) were detected.According to the results of carotid ultrasound,the patients were divided into groups of without atherosclerosis,plaque without stenosis,and carotid artery stenosis.The demographic and clinical features were compared among the 3 groups.Multivariate logistic regression analysis was used to identify the independent risk factors for carotid artery atherosclerosis in young and middle-aged patients with ischemic stroke.Results A total of 106 patients with ischemic stroke (n =50 in the without atherosclerosis group,n =44 in the plaque without stenosis group,n =12 in the carotid artery stenosis group) were enrolled in the study.The constituent ratios of age (45.98 ±7.12,50.07 ±4.79,and 50.92 ± 1.83 years,respectively; F =7.169,P =0.001),hypertension (26.0％,47.7％ and 58.3％,respectively; x2 =6.862,P =0.032),diabetes mellitus (22.0％,45.5％ and 66.7％,respectively; x2 =10.729,P =0.005),hyperlipidemia (24.0％,40.1％ and 75.0％,respectively; x2=11.372,P=0.003) and smoking (34.0％,61.4％ and 75.0％,respectively;x2 =10.93,P=0.006),as well as the serum high-density lipoprotein cholesterol (1.03 ± 0.26,0.95 ± 0.26 and 0.76 ± 0.08 mmol/L,respectively; F=5.882,P =0.004) and Lp (a) (0.108 ± 0.044,0.155 ± 0.028 and 0.200 ± 0.011 g/L,respectively; F =41.556,P =0.000) levels had significant differences in the 3 groups.Multivariate logistic regression analysis showed that age ＞ 48 years (plaques without stenosis:odds ratio [OR] 2.89,95％ confidenee interval [CI] 1.20-6.96,P =0.018; carotid artery stenosis:OR 4.43,95％ CI 1.19-16.57,P =0.027),hypertension (plaque without stenosis:OR 2.60,95 ％ CI 1.09-6.18,P =0.031; carotid artery stenosis:OR 3.99,95％ CI 1.08-14.77,P =0.039),diabetes (plaque without stenosis:OR 2.96,95％ CI 1.21-7.23,P=0.018; carotid artery stenosis:OR 7.09,95％ CI 1.79-28.02,P =0.005),hyperlipidemia (plaque without stenosis:OR 2.19,95％ CI 0.91-5.31,P =0.082; carotid artery stenosis:OR 9.50,95％ CI 2.21-40.86,P =0.002),smoking (plaque without stenosis:OR 3.08,95％ CI 1.33-7.16,P =0.009; carotid artery stenosis:OR 5.82,95％ CI 1.39-24.38,P =0.016),and Lp (a) (plaque without stenosis:OR 4.38,95％ CI 1.76-10.90,P=0.001; carotid artery stenosis:OR 12.80,95％ CI 2.73-52.67,P =0.001) were the independent risk factors for carotid artery atherosclerosis in young and middle-aged patients with ischemic stroke.Conclusions Age,smoking hypertension,diabetes and Lp(a) were the independent risk factors for carotid artery atherosclerosis in young and middle-aged patients with ischemic stroke.

Adolescent scoliosis is spinal deformity happening in early adolescent or before bone mature.It can affect the body figure and appearance of children,threat the physical and mental health of the youth.Serious malformation even leads to heart and lung function failure.This paper summarizes the causes of disease incidence,the incidence situation in domestic and abroad,census method,the latest gene chip technique,the latest progress of treatment,and investigates the method of early prevention,early diagnosis,and early treatment.For younger children,non-surgical treatment such as brace could be used to avoid scoliosis aggravating.

In order to understand the vibration regularity and morphologic alteration of vocal folds objectively and directly without invading and disturbing the normal pronunciation, the voice acoustic multilateral analysis was conducted and electroglottograph was defecated for 59 cases of normal voice and 102 cases (136 times) of pathological voice by Dr. Speech software through computer' s multimedia technique. The results showed that except F0 there was no sexual difference in the parameters such as jitter, shimmer, NNE and SDF0; there was obvious difference in the parameters between normal and pathological voice. There was a falling tendency for the parameters between preoperation and postoperation. The Egg curve's variation can well reflect the morphologic alteration of vocal folds in voice diseases, and the abnormal ratio is 83.7 % and obvious lower in postoperation reexamined cases.

Objective To study the effect of anti-hypertensive therapy on the characteristics of platelet in essential hypertension(EH) patients. Methods Thirty-two healthy people(CT) and 37 patients with primary hypertension (gradeⅠ) were recruited . Blood pressure and 4 platelet parameters: platelet count (PLT), mean platelet volume (MPV), platelet distribution width (PDW) and platelet hematocrit (PCT) were determined by whole blood automatic analysis apparatus. Results The 4 platelet parameters were increased in hypertension patients compared with healthy people and decreased after anti-hypertensive therapy[PLT:(before 201.8?72.9 vs after 187.1?68.6 )10~ 9 L+{-1}; MPV:(before 10.3?1.9 vs after 10.0?1.9)fL, PDW:(before 15.5?1.1 vs after 15.2?1.0)fL; PCT:(before 0.198%?0.047% vs after 0.187%?0.036%)](P

The expression and function of NIS are the prerequisites of radioactive iodine ( RAI ) treatment for DTC, which in turn determine the iodine uptake and outcome in DTC patients. Studies for the factors that might influence the function of NIS for the development of redifferentiation therapy should be conducted in conjunction with the individualized course of treatment in DTC patients having poor iodine up?take in their thyroid tumors. This review summarizes the factors that influence the function and expression of NIS in these patients.

Extended-field and subtotal nodal radiation therapy (RT),developed in the 1960 s,was first reliably curative treatment for early-stage Hodgkin lymphoma (HL). However, the large volume of normal tissue irradiated resulted in significant delayed toxicity, including cardiac disease and second cancers (SC).The 30-year cumulative incidence of heart disease among adult survivors receiving 40-45 Gy of extended-field or mantle RT is approximately 30 ％; the incidence of SC is similar. How to improve disease control while reducing the toxicity of treatment has been a major objective of HL trials. Contemporary involved-field RT (IFRT) and involved-node RT (INRT) reduces irradiated volumes and produces significant reductions in normal tissue dose, and response-adapted therapy may be a means of identifying those patients most likely to benefit from treatment reduction or intensification, and enhanced screening will facilitate early intervention to reduce the clinical burden of late effects. There is a increasing interest in elucidating the genetic correlation of treatment toxicity.

Objective To investigate the expressions of AKT and ERK1/2 proteins in hypopharyngeal squamous cell carcinoma and normal hypopharyngeal mucosa. Methods The expressions of AKT and ERK1/2 proteins were exam-ined by immunohistochemical S-P technique in 60 patients with hypopharyngeal squamous cell carcinoma and 15 cases of normal hypopharyngeal mucosa . The relationship between expressions of AKT and ERK1/2 proteins and clinical pathologi-cal feathers was analyzed. Results The positive rates of the expressions of AKT and ERK1/2 were 78.3% (47/60) and 66.7%(40/60) in 60 cases of hypopharyngeal squamous cell carcinoma, which were significantly higher than those in 15 cas-es of normal hypopharyngeal mucosa [13.3%(2/15) and 6.7%(1/15), P<0.05]. The lower the degree of differentiation, the later the clinical stage, the higher the positive expression rates of AKT and ERK1/2. There were significantly higher expres-sions of AKT and ERK1/2 in patients with lymph node metastasis than those of patients without lymph node metastasis (P<0.05 or P<0.01). There was a positive correlation between expression levels of AKT and ERK1/2 (rs=0.400,P<0.05). Con-clusion There were higher expression levels of AKT and ERK1/2 in hypopharyngeal squamous cell carcinoma. The activa-tion of AKT and ERK1/2 proteins promotes hypopharyngeal occurrence, development and metastasis.

Objective To analysis the differences of age, prostate volume, serum PSA and PSAD, IPSS between the BPH and BPH with prostatitis. Methods Clinical data of 100 patients whom received surgical treatments with a pathologic diagnosis of BPH were retrospectively analyzed. The occurrence of prostatitis was determined by pathology. The differences of age, prostate volume, serum PSA and PSAD, IPSS between the BPH cases and BPH with prostatitis cases were analyzed. The capability of B-ultrasound in diagnosis of the prostatitis combined with BPH was evaluated. Re-suits 66% BPH patients were found combined with prostatitis. There was a significant correlation between inflammatory infiltration grade and aggressiveness grade (r= 0. 772, P<0. 001). There was a moderate correlation between prostate volume and patient age(r= 0. 420, P<0. 001). There was a low correlation between serum PSA and patient age (r= 0. 258, P<0. 01) while no significant correla-tion between PSAD and age. The patient age of BPH combined with prostatitis group was significantly higher than BPH group (P<0. 05). Average prostate volume of combined with prostatitis group was significantly higher than BPH group (P<0. 05). There was a significant correlation between prostate volume and inflammatory infiltration grade(r=0. 292, P=0. 003), PSA and aggressiveness grade(r=0. 254, P=0.007). Both average PSA and PSAD of BPH combined with prostatitis group were signif-icantly higher than the BPH group (P<0. 05). When the factor of difference in age distribution was considered, the conclusion were still valid (P<0.05). On α= 0.05 level, relatively low correlations were found between PSA and inflammatory infiltration grade(r=0. 319, P=0. 001), PSA and aggres-siveness grade(r=0. 214, P=0. 032), PSAD and inflammatory infiltration grade ( r=0. 212, P=0. 034). There was no significant correlation between PSAD and aggressiveness grade(r=0.081 ,P=0.425). Average IPSS of combined with prostatitis group were significantly higher than BPH group. On diagnosis of the combined prostatitis in BPH, the sensitivity of ultrasonic was 21.2% with a speci-ficity of 82.4%. Conclusions Prostatitis is often found in more than half BPH samples. The BPH with prostatitis usually has bigger prostate volume, higher PSA, PSAD and may present relatively se-verer clinic syndromes.