Hereditary disease, especially monogenic disease is one of the major causes for malformation and disability of children. Most hereditary diseases have no effective therapy besides clinical symptomatic treatment. Biological techniques targeting casual genes or related signaling genes, such as transgenic, RNA interfere, genome editing, have been successfully applied in treating some hereditary diseases. However, most biological, treatments were carried out in animals, further confirmation of the effectiveness and safety of these therapies, and development of more therapeutic approaches based on mechanisms are needed before clinical trials.
Animals ; Biological Therapy ; Disease Models, Animal ; Genetic Diseases, Inborn ; therapy ; Genetic Therapy ; Humans

Objective To investigate the clinical effect and security of spraying Zhikang Capsules guided by gastroscopy in treatment elderly upper gastrointestinal bleeding.Methods Eighty-four elderly gastric duodenal ulcer bleeding patients were randomly assigned to group A,B and C (n =28 for each group).Patients in group A were used noradrenalin to spray with gastroscopy,in group B were used thrombin and in group C were used Zhikang Capsules.The total effective,the immediate homeostasis rate,the incidence of rebleeding,the emergency operation rate and the incidence of adverse reaction were recorded and analyzed.Results Total effective rate of group C was 96.4％ (27/28),significantly higher than that in group A (71.4％,20/28),B (75.0％,21/28) and the difference was significant(P＜0.05).The incidence of rebleeding in group A,B,C were 28.6％ (8/28),17.9％ (6/28),3.6％ (1/28) respectively,and the difference was significant (P ＜0.05).The same trend was seen regarding of the incidence of adverse reaction among three groups (25.0％,7/28;10.7％,3/28;0,0/28;P＜0.05).Conclusion Spraying Zhikang Capsules guided by gastroscopy is showed with good therapeutic effect in treating elderly upper gastrointestinal bleeding and high safety,and with less adverse reaction.

Objective To explore the relationship between depression and malnutrition in hospitalized aged patients. Methods The mini nutritional assessment (MNA) table and geriatric depression scale (GDS) were used to investigate the nutritional status and depression of 114hospitalized elderly. Results The prevalence of depression was 62.3% (71 patients), the prevalences of malnutrition and latent malnutrition were 43.9% (50 patients) and 41.2% (47patients) respectively. The prevalence of malnutrition and latent malnutrition was higher in depressive patients than in non-depressive patients. After controlling age, number of illnesses, bed-ridden or not and method of nutrition, the nutritional status was negatively correlated with the grade of depression.Conclusions The prevalence of malnutrition in depressive patients is high and is associated with the grade of depression.

Objective To study the clinical characteristics of very elderly patients aged 80 years and over with diabetes mellitus (DM).Methods Clinical data of 95 very elderly patients with diabetes mellitus were retrospectively analyzed.Results Among 95 patients,patients with type 2 diabetes mellitus accounted for 98.9％ (94/95),patients with asymptomatic onset accounted for 35.8％ (34/95).The incidence of acute complications of diabetes mellitus was 11.6 ％ (11/95).Chronic complications of peripheral neuropathy and diabetic nephropathy were more common,and their incidences were 83.2％ (79/95) and 45.3％ (43/95),respectively.The percentage of patients with multiple chronic complications was up to 45.3％ (43/95).The percentage of DM patients combined with hypertension,coronary heart disease,cerebral infarction,hyperlipidemia or cardiac valve calcification was 80.0％ (76/95),48.4％ (46/95),77.9％ (74/95),42.1％ (40/95)and 33.7％ (32/ 95),respectively.There were 29 patients (30.5％) with the simultaneous presence of DM,hypertension,cerebral infarction,coronary heart disease,and hyperlipidemia in a same patient.The proportion of DM patients with low serum albumin was 47.4％ (45/95),and the rate achieving the target low density lipoprotein level was only 35.8％ (34/95).In the treatment,67.4％ (64/95) of patients were treated with oral hypoglycemic agents combined with insulin injection.The incidence of hypoglycemia was 24.2％ (23/95),and 69.6％ (16/23) of them had no self-conscious hypoglycemic symptoms.Conclusions Chronic complications are common in elderly diabetes mellitus patients.The elderly DM patients are prone to have many complications at the same time,with a higher incidence of hypoglycemic value under 3.9 mmol/L and lower rate of hypoglycemic symptoms.

To report the clinical, imaging, and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD), and to conduct a retrospective analysis of PPNAD with relevant literatures. The pubic hair was found in the child for more than one year. Physical examination showed Cushing′s syndrome. ACTH in blood decreased, cortisol rhythm was disordered, 24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test. Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands. Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development. PPNAD was supported by pathology result. The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

Objective:To analyze the current situation of the specialty setting and training program of Intelligent Medical Engineering (IME) in China.Methods:The information about the schools' name, year of opening, enrollment plan, training objective and curriculum was obtained by the website investigation and was statistically analyzed by Excel.Results:(1)A total of 48 universities set an IME major from 2018 to 2021, mainly in developed areas. The number of talent training was nearly 2 400 per year. (2)The information of colleges which established IME was acquired from 47 universities. Among them, 59% (13/22) of the comprehensive universities set the IME major in medical-related colleges. (3)The information concerning professional training objectives was collected from 40 universities and they highlighted the capabilities of big data intelligent processing and software research and development, and 12 of them also required students to master the capability of hardware research and development. (4)Computer science and technology, preclinical medicine, clinical medicine and biomedical engineering were the main disciplines of IME. The professional core curriculum mainly included computer language and artificial intelligence (AI) related courses.Conclusion:IME education has sprung up rapidly with the development of AI technology in medical and health field. However, the cultivation of IME professionals is still at exploratory stage. It is recommended that the national related departments should publish some relevant guidelines on the training orientation of IME.

Objective To study the effects of serum C-type natriuretic peptide (CNP) ,insulin-like growth factor II (IGF-Ⅱ ) , endothelin (ET) ,neuron-specific enolase (NSE) and S100B protein(S100B) on the prognosis of the patients with traumatic brain injury .Methods A total of 110 patients with craniocerebral trauma admitted in our hospital from January 2016 to January 2017 se-lected as the craniocerebral trauma group and further divided into the mild ,moderate and severe craniocerebral trauma groups ac-cording to the Glasgow Coma Scale (GCS) .Then the levels of serum CNP ,IGF-Ⅱ ,ET ,NSE and S100B in all cases were analyzed by enzyme-linked immunosorbent assay (ELISA) .Their influence on the prognosis of the patients with craniocerebral trauma and the correlation among various indicators were analyzed .Results The levels of CNP and IGF-Ⅱat admission in the craniocerebral trauma group were significantly decreased ,while the levels of ET ,NSE and S100B were significantly increased ,the difference com-pared with the control group was statistically significant (P<0 .05) .Serum CNP and IGF-Ⅱlevels in the death group ,plant survival group and disabled group were significantly decreased .The difference was statistically significant (P<0 .01) .Serum CNP and IGF-Ⅱlevels in the moderate and severe craniocerebral trauma groups were gradually increased with the disease course progress ,while serum ET ,NSE and S100B levels were gradually decreased with the disease course progress ,the difference was statistically signifi-cant(P<0 .05) .In the patients with craniocerebral trauma ,the positive correlation existed between CNP and IGF-Ⅱ ,between ET and S100B ,between ET and NSE ,and between NSE and S100B(P<0 .01) ,while the negative correlation existed between IGF-Ⅱand ET ,between IGF-Ⅱ and S100B ,between CNP and ET ,and between IGF-Ⅱand NSE (P<0 .01) .Conclusion Serum CNP , IGF-Ⅱ ,ET ,NSE and S100B are correlated to the severity of craniocerebral trauma ,which has a higher clinical application value for judging the disease condition ,evaluating the prognosis in cradiocerebral trauma .

Objective : To explore diagnostic value of ankle brachial index (ABI) combined carotid intima‐media thickness (IMT) for CHD in aged patients with DM.Methods :A total of 198 aged DM patients were selected ,including 101 patients complicated with CHD (complicated CHD group ) and 97 non‐CHD patients (pure DM group ).According to number of diseased coronary vessels ,complicated CHD group was further divided into single vessel group (n＝29) ,double vessel group (n＝41) and multi‐vessel group(n＝31).Another 104 healthy aged people were enrolled as healthy control group simultane‐ously.Abnormal ABI rate (percentage of ABI＜0.9) and IMT were measured and compared among all groups .With coro‐nary angiography (CAG) as gold standard ,diagnostic value of single and combined detection of ABI and IMT for CHD were analyzed .Results :Compared with healthy control group ,there were significant rise in abnormal ABI rate (30.7% vs. 53.6% vs.69.3%) and IMT [(0.78 ± 0.46)mmvs.(1.14 ± 0.53)mm vs.(1.46 ± 0.38)mm]in pure DM group and com‐plicated CHD group ,and those of complicated CHD group were significantly higher than those of pure DM group , P＜0.05 or ＜0.01. Compared with single vessel group ,there was significant rise in abnormal ABI rate (51.7% vs.87.1%) in multi‐vessel group , P＝0.003 ;significant rise in IMT [(1.21 ± 0.42)mmvs.(1.42 ± 0.34)mmvs.(1.68 ± 0.36) mm]in double vessel group and multi‐vessel group ,and that of multi‐vessel group was significantly higher than that of double vessel group , P＜0.05 or ＜0.01. Sensitivity and specificity of single detection of ABI＜0.9 was 55.6% and 82.2% respectively in diagnosing CHD ;it′s 59.1% and 71.4% respectively for single detection of thickened IMT ;for combined detection ,sen‐sitivity can reach 84.51%(ABI＜0.9 or thickened IMT) and sensitivity can reach 88.91%(ABI＜0.9 combined thickened IMT).Conclusion :ABI combined IMT possesses high diagnostic value screening CHD in aged DM patients ,which is worth extending.

OBJECTIVE: To investigate the expressions of matrix metalloproteinase-9 (MMP-9) and interleukin-8 (IL-8) in nasopharyngeal carcinoma and their association with Epstein-Barr virus latent membrane protein-1 (LMP-1). METHOD: The expressions of MMP-9, IL-8 and LMP-1 were immunohistochemical studied in 53 nasopharyngeal carcinoma sections. We statistically analyzed the correlation of these data and also the relationship between the clinical features and the experimental data of these patients. RESULT: The positive expression rate of MMP-9, IL-8 and LMP-1 were all 66.04% (35/53) and their average expression score were (33.19 +/- 29.73)%, (33.46 +/- 30.23)%, (35.49 +/- 29.63)% respectively. The expressions of MMP-9 and IL-8 both showed positive correlation with the expression of LMP-1 (r = 0.792, 0.786 respectively). The expressions of MMP-9, IL-8 and LMP-1 showed significant relationship with lymph nodes metastasis (P < 0.05), but no-significant association with age, gender, pathological classification, and clinical stage. CONCLUSION The expressions of MMP-9, IL-8 and LMP-1 were significantly associated with neck lymph nodes metastasis in nasopharyngeal carcinoma. The correlation between LMP-1 and MMP-9, IL-8 showed LMP-1 might enhance neck lymph nodes metastasis by up-regulating the expressions of MMP-9 and IL-8.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Interleukin-8 ; metabolism ; Lymphatic Metastasis ; Male ; Matrix Metalloproteinase 9 ; metabolism ; Middle Aged ; Nasopharyngeal Neoplasms ; metabolism ; pathology ; Neck ; Prognosis ; Viral Matrix Proteins ; metabolism ; Young Adult

Objective To explore the feasibility of differential diagnosis of Gleason score (GS)(3+4)and (4+3)in prostate cancer (PCa) based on texture parameters of T2 WI and ADC maps.Methods A total of 77 patients with GS 7 points in PCa confirmed by pathology were enrolled in this retrospective study,including 45 GS(3+4)cases and 32 GS(4+3)cases.ROI was manually drew on the largest section of tumor on the axial T2 WI and ADC maps,and five texture parameters were extracted,namely,angular second moment (ASM),contrast, correlation,inverse difference moment and entropy,and the texture parameters between groups were analyzed statistically,then ROC curve was used to evaluate the diagnostic efficiency of texture parameters with statistical differences.Results There was no significant difference in age and prostate specific antigen (PSA)between GS (3 + 4)and GS (4 + 3)groups (P＞0.05).There were significant differences in ASM and entropy between T2 WI and ADC (P＜0.05),but there was no statistical difference in contrast,correlation and inverse difference moment (P＞0.05).Except for the AUC of T2 WIASM,there were statistical differences among T2 WIentropy ,ADCASM and ADCentropy.The AUC of ADCASM and ADCentropy were larger than that of T2 WIASM and T2 WIentropy.The AUC of ADCentropy had the largest AUC (0.732),the cut off value was 5.71 ,with the sensitivity was 97.6% and specificity was 5 9.5%.Conclusion MRI texture analysis can be used to differentiate GS (3 + 4)from GS (4 + 3)in PCa,and the ADCentropy have the best diagnostic efficacy.