Research progress of Kallmann syndrome / 国际儿科学杂志

Kallmann syndrome is a rare genetic disease with genetic heterogeneity and phenotypic heterogeneity, and is one of the common types of congenital hypogonadotropic hypogonadism.The incidence rate of male is higher than that of female.The pathogenesis is associated with abnormal development and migration of gonadotropin-releasing hormone(GnRH)neurons during embryonic period.The main clinical features are hypogonadism and anosmia or hyposmia.It is difficult to make early diagnosis before puberty, and hormone detection in mini puberty is a window of opportunity for early diagnosis, and non-reproductive performance and gene detection are conducive to early detection of the disease.This article reviews the literature and summarizes the progress in etiology, diagnosis and early diagnosis, reversal and relapse, and treatment of Kallmann syndrome.

The Wuhan Twin Birth Cohort Study / 中华流行病学杂志

The prevalence of child and adolescent growth and mental-behavior related diseases are increasing,and the pathogcnesis are complex.Twins are excellent natural resources for complex chronic diseases research as they share the maternal intrauterine environment,born at the same time and share the same family environment in early years,which could benefit the adjust ment of confounding factors,such as age,genetic factors and early family environmental factors.Birth cohort with twin families involved could be more effective in exploring the genetic and environmental factors for complex chronic diseases at the very beginning of life.This paper summarizes the objective,content,progress,strengths and potential problems of Wuhan Twin Birth Cohort,with emphasis on the overall design and progress of the study.

The Wuhan Twin Birth Cohort Study / 中华流行病学杂志

The prevalence of child and adolescent growth and mental-behavior related diseases are increasing,and the pathogcnesis are complex.Twins are excellent natural resources for complex chronic diseases research as they share the maternal intrauterine environment,born at the same time and share the same family environment in early years,which could benefit the adjust ment of confounding factors,such as age,genetic factors and early family environmental factors.Birth cohort with twin families involved could be more effective in exploring the genetic and environmental factors for complex chronic diseases at the very beginning of life.This paper summarizes the objective,content,progress,strengths and potential problems of Wuhan Twin Birth Cohort,with emphasis on the overall design and progress of the study.

Association between dietary supplementation during pregnancy and low birth weight: a prospective study / 中华预防医学杂志

Objective@#To explore the association between dietary supplementation during pregnancy and low birth weight.@*Methods@#11 311 pregnant women who had regularly visited outpatient gynecology clinic of Wuhan Women and Children Medical Center with intention to delivery in the hospital were recruited in the cohort between September 2012 and October 2014. Social-demographic characteristics of pregnant women and spouses, dietary supplementation during pregnancy, pre-pregnancy body mass index (BMI), exercise in the third trimester, work during pregnancy, pregnancy complications and related pregnancy information were collected through self-designed questionnaires, maternal health manuals and medical records. Birth weight of the newborns was measured. Non-conditional multivariate logistic regression analysis was used to determine the correlation between dietary supplementation and low birth weight.@*Results@#11 311 pregnant women were (28.21±3.70) years old, and they gave birth to 477 low birth weight newborns (4.2%). Iron supplementation during the whole period of pregnancy (OR (95%CI): 0.60 (0.43-0.63)) and folic acid supplementation during the early pregnancy (OR (95%CI): 0.74 (0.60-0.90)) were negatively associated with low birth weight.@*Conclusion@#Supplementation of iron during the whole period of pregnancy and folic acid during the early pregnancy would reduce the risk of low birth weight.

The analysis of gene mutation and diagnosis and treatment of 5α-reductase 2 deficiency in a child / 临床儿科杂志

Objective To explore the clinical feature and gene mutation in steroid 5α-reductase 2 deficiency (SRD5A2). Method The clinical data of SRD5A2 in a child with vulva abnormality as the first manifestation was retrospectively analyzed. Results This was a 29-month-old child, whose social gender was female. The level of her basic luteinizing hormone (LH) was 0.07 mIU/mL, and follicle-stimulating hormone was (FSH) 0.39 mIU/mL. The baseline levels of testosterone (T), dihydrotestosterone (DHT), 17-hydroxyprogesterone (17-OHP) and androstendione (A2) were 0.06 ng/mL, 19.67 pg/mL, 1.20 ng/mL, and 0.07 ng/mL respectively. Those levels were 3.65 ng/mL, 68.25 pg/mL, 51.72 ng/mL, and 14.70 ng/mL respectively after Human chorionic gonadotropin (HCG) stimulation. The levels of her anti-mullerian hormone (AMH) was 22.97 ng/mL, and inhibin B (INH-B) was 274.4 pg/mL. The uterus and ovaries were not detected by Pelvic ultrasound and MRI. The chromosome showed 46, XY. Sex determination (SRY) gene detection showed normal. Androgen receptor (AR) gene detection showed negative. There was pathogenic mutation of 5α-reductase 2 (SRD5A2) gene in peripheral blood of the child and her parents. The penis grows 2 cm after 4 months of treatment with 2.5% DHT gel. Conclusion SRD5A2 is diagnosed mainly based on the increase of T/DHT after HCG stimulation experiment and it can be confirmed by detection of pathogenic SRD5A2 mutation.

Exploration of nursing development mode at a research hospital / 中华医院管理杂志

This article described the background,concept,characteristic and objective of the research-based nursing,systematically introducing the main measures including management mechanism, nursing service,nursing staff training,and nursing scientific development.Other areas covered include innovation management mechanism,updating service philosophy,improving nursing staff training,and constructing scientific research platform.

Fever,poor response, convulsions, and hepatomegaly / 中华实用儿科临床杂志

Objective To investigate the differential diagnosis of Reye syndrome and the characteristics of primary carnitine deficiency,and to provide diagnostic strategy for similar cases.Methods There was a case presented with fever,poor response,convulsions and hepatomegaly hospitalized in Wuhan Children's Hospital,and the clinical manifestations were described,the physical examination was comprehensively conducted,the auxiliary examination results were recorded,some pediatric specialists from ICU,neurology department,genetic metabolic department,digestive system department were invited to discuss the case.The treatment was adjusted according to the suggested opinions;the treatment effects and the final diagnosis were tracked.Results The primary diagnosis of the case was central nervous system infection or toxic encephalopathy at the time of admission,but Reye syndrome could not be excluded.Although the cerebrospinal fluid test and brain MRI examination detected nothing abnormal,liver function suggested alanine aminotrans ferase ALT increase,blood sugar decrease,the liver volume increase,which was detected by liver ultrasound.Blood amino acids examination revealed the carnitine level decreased,and it was confirmed as primary carnitine deficiency in the end.L-carnitine was used to treat the disease,and its effect was good.Conclusions Great importance should be attached to children with onset age,physical check-up,and multidisciplinary cooperation.Use monism to explain the illness and the auxiliary inspection as far as possible,so that it can get early diagnosis and treatment,and the outcome is good.

Etiological analysis of vaginal bleeding in girls / 中华实用儿科临床杂志

Objective To investigate the etiological factors fc,r abnormal vaginal bleeding in girls.Methods Data of 65 female children aged from 3 months and 10 years old with abnormal vaginal bleeding,who were treated in Department of Endocrinology,Wnhan Children's Hospital from March 2009 to October 2013 were collected by using medical records and follow-ups.By means of pelvic ultrasound,bone age assessment,hysteroscope,hormone level and genetic testing,the causes of the disease were analyzed.Results Of 65 patients,37 cases had breast developed,21 ca-ses had nipple,areola and vulva pigmentation increased,16 cases with genital secretions increasing and odor,the height growth in 21 cases accelerated,abdominal pain was presented in 5 cases,and 6 cases had skin milk coffee spots.The leading etiological factors for vaginal hemorrhage in these girls were sexual precocity.The peripheral precocious puberty accounted for the first place (30/65 cases,46.2％),and followed by the central precocious puberty (20/65 cases,30.8 ％).Hyperphlogosis accounted for 12.3 ％ (8/65 cases),vaginal foreign body accounted for 6.2 ％ (6/65 cases),and genital tract tumors accounted for 4.6％ (3/65 cases).In the 30 peripheral precocious puberty cases,exogenous precocious puberty accounted for 16.9％ (11 cases),8 cases(12.3％) were of solitary ovarian cyst,8 cases(12.3％) of McCune-Albright syndrome,and 3 cases of ovarian tumors.In the 20 central precocious puberty cases,idiopathic central precocious puberty accounted for 18.5％ (12 cases),4 cases(6.2％) were of organic disease of central nervous system,and 4 cases (6.2％) of hypothyroidism.Of 65 children,12 cases lost follow-up and 1 case abandoned treatment.The rests received appropriate treatment according to different causes,and the vaginal bleeding were effectively controlled after 3 months to 2.5 years of follow-ups without recurrence of bleeding.But there were 2 cases of isolated ovarian cyst and 3 cases of McCune-Albright syndrome turned into central precocious puberty.Conclusions Endocrine diseases are the common factors for children's vaginal bleeding.Neoplasm is not rare in girl's abnormal vaginal hemorrhage.

Evaluation of intraventricular dyssynchrony by quantitative tissue velocity imaging in rats of post-infarction heart failure / 中南大学学报(医学版)

OBJECTIVE@#To evaluate intraventricular systolic dyssynchrony in rats with post-infarction heart failure by quantitative tissue velocity imaging combining synchronous electrocardiograph.@*METHODS@#A total of 60 male SD rats were randomly assigned to 3 groups: a 4 week post-operative group and an 8 week post-operation group (each n=25, with anterior descending branch of the left coronary artery ligated), and a sham operation group (n=10, with thoracotomy and open pericardium, but no ligation of the artery). The time to peak systolic velocity of regional myocardial in the rats was measured and the index of the left intraventricular dyssynchrony was calculated.@*RESULTS@#All indexes of the heart function became lower as the heart failure worsened except the left ventricle index in the post-operative groups. All indexes of the dyssynchrony got longer in the post-operative groups (P0.05).@*CONCLUSION@#Quantitative tissue velocity imaging combining synchronous electrocardiograph can analyse the intraventricular systolic dyssynchrony accurately.

Experimental study on phase timing of rabbit liver VX2 tumor by contrast-enhanced ultrasonography : comparison with multidetector spiral CT / 中华超声影像学杂志

Objective To investigate the imaging characteristics of rabbit liver VX2 tumor with contrast-enhanced ultrasonography(CEUS) and multidetector spiral CT(MDCT), to explore the criterion of phase timing apllicable to the model.Methods CEUS and MDCT were acquired in thirty-three New Zealand rabbits with hepatic VX2 tumors.The initial time of hepatic arterial phase was verified as the time the hepatic artery beginning to enhance,the initial time of portal phase as the time the VX2 tumor reaching peak enhancement and the initial time of hepatic parenchymal phase as the time the hepatic parenchyma reaching peak enhancement.The enhancing characteristics were observed.The time-intensity curve of VX2 tumor and peripheral parenchyma in CEUS was analysed and compared with the time-desity curve of abdominal aorta, portal vein, hepatic parenchyma and tumor in MDCT.Results The initial time of heptic arterial phase,portal phase and parenchymal phase in CEUS and MDCT was (6.82±1.36)s and (9.43±2.23)s,(11.64±2.03)s and (13.77±2.01)s,(20.24±4.17)s and (22.71± 4.58)s,respectively.The initial time of each phase in CEUS was earlier than that in MDCT (P<0.01).The contrast enhancing characteristics in CEUS and MDCT were consistent as fast wash-in and fast wash-out.Conclusions The status of hemodynamic perfusion in rabbit hepatic VX2 tumor could be well displayed by CEUS and the phase timing criterion concluded in this experimental study could offer fundmental theory basis for relevant imaging evaluation.

Expression of Human Papillomavirus L1 Caspid Protein in Cytologic Specimens of Cervix / 华中科技大学学报(医学版)

Objective To evaluate the expression and clinical significance of human papillomavirus(HPV)L1 caspid protein in cytologic specimens of the cervix.Methods The HPV L1 caspid protein in cytologic specimens of the cervix was detected by using immunochemistry in 309 women treated in Shenzhen Hospital of Peking University from Jan.2008 to May 2009.According to histological biopsy,of 309 liquid-based cytologic smears,there were 33 cases of normal cervixes or chronic cervititis,168 cases of grade I of cervical intraepithelial neoplasia(CIN I),84 cases of grade Ⅱ/Ⅲof CIN,and 24 cases of squamous cell carcinomas(SCC).Results The positive expression rate of HPV L1 caspid protein was 27.3%,66.7%,25.0%,and 0 in the normal cervixes or chronic cervititis,CIN I and CIN Ⅱ/Ⅲ,and SCC respectively.There was significant difference between CIN I or SCC and the normal cervixes or chronic cervititis,between CIN I with CIN Ⅱ/Ⅲ,and between CIN I or CIN Ⅱ/m with SCC(all P<0.0 1).The positive expression rate of HPV L1 caspid protein was reduced with the lesion progression from CIN I to CINⅡ/Ⅲ to SCC.309 cases were divided into two groups by 30 and 40 years of age,and there was no significant difference in the HPV L1 caspid protein expression between different age groups(P>0.05).The positive expression rate of HPV L1 caspid protein in the over-1000 RLU/PC viral load group was significantly higher than in the under-1000 RLU/PC viral load group(P<0.05).The sensitivity,specificity,positive predictive value,negative predictive value of HPV L1 caspid protein for detecting high-grade cervical lesions were 80.6%,60.2%,52.1% and 85.2%,respectively.Conclusion The positive rate of HPV L1 caspid protein is decreased with the lesion progression from CIN I to CIN Ⅱ/Ⅲto SCC.HPV L1 caspid protein among HPV-positive women can be a helpful molecular biomarker in risk assessment and prognostic prediction.

Value of contrast-enhanced ultrasonography on grading extracranial carotid stenosis / 中华超声影像学杂志

Objective To assess value of contrast enhanced ultrasonography(CEUS)in diagnosis of extracranial carotid stenosis.Methods Baseline ultrasonography and CEUS were performed in 108 patients with extracranial carotid stenosis.The location and degree of stenosis were judged and compared with the results of digital subtraction angiography(DSA).Results Of 108 patients,DSA diagnosed 81 vessels in 62 cases of mildintermediate stenosis which consisted of 33 common carotid arteries(CCAs),43 internal carotid arteries(ICAs)and 5 external carotid arteries(ECAS),51 vessels in 39 cases Of severe stenosis(46 ICAs and 5 CCAs)and 7vessels in 7 cases of complete occlusion(7 ICAs).The surface of intima and the interface of media-adventitia were depicted clearly by CEUS.The consistent rates in diagnosis on mild-intermediate stenosis,severe stenosis and complete obstruction by baseline ultrasonography and CEUS were 76.5%and 9 1.4%(P＜0.05).60.8%and94.1%(P＜0.001),28.6%and 100%(P＜0.05)respectively when judged by DSA as the golden standard.CEUS and DSA were correlated significantly on calculating the stenosis rate(r=0.975,P＜0.001).Conclusions CEUS can assess the degree of extracranial carotid stenosis accurately and non-invasively which is superior to baseline ultrasonography and correlated significantly with DSA.

Preliminary study on hepatic perfusion disorders in small focal liver lesions with contrast-enhanced ultrusonography during arterial phase / 中华超声影像学杂志

Objective To investigate the imaging characteristics and differentiating value of hepatic perfusion disorders(HPD)in small focal liver lesions(≤3 cm),the transient hepatic hyperechoic enhancement(THHE),with contrast-enhanced ultrasonography(CEUS)during arterial phase and explore the potential mechanism.Methods Two hundred and sixty-eight small foeal liver lesions found in 215 patients who had undergone CEUS were retrospectively evaluated in this study.Hepatic parenchymal THHEs around those lesions were diagnosed and the CEUS characteristics as well as the detecting rate related to different lesions were analyzed.Results Forty-five among 268 lesions(16.8%)showed surrounding THHEs during CEUS and they exhibited fast wash-in to form hyperechoic area of different shape and range and then those area became fast washout to be isoechoic in contrast with peripheral liver parenchyma.According to the imaging morphology,THHEs could be divided into four types:type Ⅰ,wedge-or fan-shaped(51.1%);type Ⅱ,encircling-shaped(20.0%);type Ⅲ,nodule-like-shaped(11.1%);type Ⅳ,irregular-shaped(17.8%).According to the pathology,the liver focal lesions could be divided into three groups:benign group,which consisted of 88 lesions and 8(9.1%)lesions showed surrounding THHEs of which 87.5% presented type Ⅲ and Ⅳ;malignant group,which consisted of 141 lesions and 31(22.0%)lesions showed surrounding THHEs of which 67.7% presented type Ⅰ;tumor-like lesions group,which consisted of 39 lesions and 6(15.4%)lesions showed surrounding THHEs of which 66.7% presented type Ⅱ.There was significant difference in the composition of THHEs type among three groups(P＜0.001).The detecting rate of THHEs in benign group was lower than that in other groups(P＜0.05).Conclusions THHEs showed with CEUS in small liver focal lesions are representation of HPD and have different detecting rate and imaging morphology type in different lesions.It is very important to recognize and distinguish THHEs surrounding focal lesions,which could help to make differential diagnosis,avoid incorrect diagnosis and judge the size of lesions correctly.

Study on the relationship between the neovascularization of carotid atherosclerotic plaques,plasma myeioperoxidase(MPO)concentration and cerebral infarction / 中华超声影像学杂志

Objective To study the relationship between the neovascula rization of carotid atherosclerotic plaques with real-time contrast-enhanced ultrasonography(CEUS),plasma myeloperoxidase (MPO)concentration and cerebral infarction.Methods Seventy-three cases with eighty-nine carotid atherosclerotic plaques were examined with real-time CEUS.According to the imaging features,the seventythree cases were divided into three groups:soft plaques group,hard plaques group and mixed plaques group.The differences of the incidence rate of cerebral infarction events,plasma MPO concentration and contrast media persistent enhancement time with real-time CEUS in plaques among the three groups were analyzed.The cerebral infarction events were diagnosed by CT or MRI routinely.Results The incidence rate of cerebral infarction events,plasma MPO concentration and contrast media persistent enhancement time of soft plaques group were significantly higher than that in hard plaques group and mixed plaques group.The risk of cerebral infarction was higher in the patients with elevated level of MPO.It showed positive correlation between the contrast media persistent enhancement time and plasma MPO concentration,and the correlation coefficient was 0.838. Conclusions The type of the plaque is correlated with the neovascularization of plaques and plasma MPO concentration.The study of relationships among them can help to evaluate the plaques,stability thoroughly and guide the clinician to prevent the incidence of cerebral infarction events.

Endoscopic variceal ligation combined with Hassab's procedure in preventing the recurrence of esophageal varices / 中南大学学报(医学版)

Objective To assess the efficacy of endoscopic variceal ligation (EVL) combined with Hassab 's procedure in the prevention of variceal recurrence. Methods One hundred and thirty-five patients with esophageal varices were randomized to receive EVL alone, Hassab's procedure alone or a combination of EVL and Hassab's procedure for variceal eradication. Ultrasonographic venous network images were recorded by an esophageal microprobe before and after the EVL or Hassab 's procedure. The clinical outcome and vascular network images of the 3 groups were analyzed. Results Esophageal varices were obliterated immediately after EVL alone, while both perforating veins and periesophageal collaterals remained patent, and 83% had recurrence of esophageal varices during an initial 3-year follow-up. Esophageal varices were reduced in size, periesophageal collaterals were obliterated after Hassab's procedure alone, and 30% experienced rebleeding and 95% with variceal recurrence. EVL combined with Hassab 's procedure obliterated all esophageal varices, perforating veins and periesophageal collaterals, and only 3 patients (8% ) recurred. Conclusion The existence of patent perforating veins and periesophageal collaterals is the reason of esophageal variceal recurrence after EVL alone. EVL combined with Hassab 's procedure can effectively prevent the recurrence, even if the cirrhotic portal hypertension persisted.

The investigation of high risk type human papillomavirus prevalence and incidence rates of cervical intraepithelial neoplasia in Shenzhen women with different screen / 中国癌症杂志

Background and purpose:HPV infection is known as the primary cause of cervical cancer worldwide To investigate high risk type human papillomavirus (HPV) prevalence and incidence rates of cervical intraepithelial neoplasia (CIN) and their screen risk factors in women with different methods of screening.Methods:1137 residents, workers and service women aged 15-59 from Shenzhen city were investigated for cervical cancer in an epidemiology screening study.The high risk types of human papillomavirus of liquid-based cytology samples were tested by hybrid capture 2 (HC-Ⅱ) and liquid-based cytology test (LCT) was also performed at the same time. Women for HPV-positive with LCT ≥ atypical squamous cells of undetermined sign (ASCUS) or HPV-negative with LCT ≥ low grade squamous intraepithelial lesion (LSIL) were biopsied in colposcopy and then were examined by pathology. All data was managed by Foxbase. ?2 test and unconditional Logistic regression model were used for data analysis by SPSS 10.0.Results:1137 women were eligible in our research, the overall rates of HPV infection was 14.0%. HPV detection rates in residents, workers and service women were 14.1%,9.2%,18.9% respectively. HPV detection rates in workers group was significantly lower than that of service women and residents (P

Cost-Effectivness Analysis on 4 Treatment Regimens for Hypertension / 中国药房

OBJECTIVE:To compare the costs and effectiveness of4treatment regimens for hypertension.METHODS:212cases of hypertension were randomly divided into4groups,group A treated with amlodipine,group B treated with fosino?pril,group C treated with candesartan cilexetil,and group D treated with losartan;the curative effects in each group were ob?served and cost-effectiveness analyses were made.RESULTS:The effective rate in group C was markedly higher than those in other3groups(P

Analysis of the Hematological System Drugs Used in Guangdong Area between 2000 and 2004 / 中国药房

OBJECTIVE:To probe into the status quo and the future tendency of the hematological system drugs used in Guangdong area.METHODS:The hematological system drugs used in over60hospitals of Guangdong area between2000and2004were analyzed statistically with respect to drug variety and amount of money.RESULTS:The amount of money of hematological system drugs increased year by year;that of the joint venture manufactured drugs and the domestic drugs in?creased year by year;filgrastim dominated the first in terms of amount of money.CONCLUSION:The domestic enterprises should strengthen the research and development of drugs and further increase their market share so as to satisfy the needs of more patients.

Clinical value of miniature ultrasonic probe on a combination of endoscopic varices ligation and Hassab's procedure in the treatment of esophageal varices / 中华超声影像学杂志

Objective To assess the efficacy and prognosis of a combination of endoscopic varices ligation(EVL) and Hassab procedure in patients with portal hypertension by miniature ultrasonic probe. Methods Twenty-three patients with esophageal varices received a combination of EVL and Hassab procedure for variceal eradication. The esophagus vascular structures were examined with endoscopy and miniature ultrasonic probe. Change of vascular structure was evaluated,recurrence and rebleeding of esophageal varices were investigated.Results After treatment,the esophageal varices were obliterated and collateral veins were diminished in size or obliterated. During a short-term follow-up,the recurrence and rebleeding rate of esophageal varices were 5.0 % and 0,respectively.Conclusions The combination of EVL and Hassab procedure can effectively shut off the portoazygous shunt,prevent esophageal varices bleeding. It is a simple and less cost procedure. The miniature ultrasonic probe plays a more important role in evaluating the treatments of esophageal varices.

Clinical Value of Color Ultrasound-guided Biopsy in Diagnosing Breast Masses / 中国医师杂志

Objective To evaluate the value of color ultrasound-guided biopsy in diagnosing breast masses. Methods The breast masses of 20 patients were punctured with automatic biopsy gun guided by color ultrasound and analysed by pathological examination. Results The mass tissues of all 20 patients were acquired successfully and diagnosed by pathology. Compared with the results of postoperative pathology,the accuracy rate of preoperative pathological diagnosis was 95%. Conclusions The automatic biospy guided by color ultrasound in diagnosis of breast masses has many advantages,such as simple technique,accurate diagnosis and few complication.