Medical genetics is one of the important basic courses in medical education. The teaching reform in course content, teaching method and experimental teaching was carried out to arouse their enthusiasm in study, cultivate their capabilities of analyzing of medical practice problem.

Objective To investigate the correlation between depression, anxiety and sleep disturbance. Methods 93 patients with the main complaint of insomnia were selected and performed a retrospective study. Results Four factors including anxiety factors, manifest anxiety, subjective depression and dominant depression of the insomnia patients were significantly higher than normal people, while the Ego Strength scores are significantly lower than the normal people. Conclusion When confronting patients with sleep disturbance, doctors must pay attention to identifying any psychological disorders including depression and anxiety in the patients, and psychological support should also be strengthened to such patients.

Objective To explore the correlation between Alzheimer's disease (AD), vascular dementia (VD) and carotid artery atherosclerosis. Methods This case-control study was conducted among 64 AD and 42 VD in-patients and out-patient admitted in Guangzhou Brain Hospital between July 2005 and July 2007, involving also 69 age- and gender-matched control subjects. Color Doppler ultrasound was performed to examine the artery shape, intima-media thickness (IMT), shape and size of the arteriosclerotic plaques, and diameter of the common carotid artery at 2 cm from the bifurcation and of the distal internal carotid artery 1.0-1.5 cm from the enlargement of the initial segment. Results Compared with those in the control group, the IMT, vascular diameter and arteriosclerotic plaques in the carotid artery were significantly increased in the dementia patients (P<0.05), but no obvious differences were found between the AD and VD patients. The degree of carotid artery atherosclerosis, represented by the number of plaques, was inversely correlated to the Mini-Mental State Examination scores (r=-0.389, P=0.000). Conclusion Carotid artery atherosclerosis is closely associated with the development of AD and VD, and the degree of atherosclerosis is positively correlated to the severity of dementia.

OBJECTIVETo understand the current status and risk factors of "subhealth" in college and university staff in Guangdong province.

METHODSEight thousand four hundred and seventeen staff in 19 colleges and universities in Guangdong were investigated through a self-developed questionnaire, and statistically analyzed using chi(2) test, chi(2)(strand) test and odd ratio. Judgement was based on the criteria on "subhealth" through Delphi method.

RESULTSOverall incidence of "subhealth" was 69.18% in 8,417 staff members, and the highest was in the age group of 30 - 40 year olds (totally 79.17%). The prevalence of severe "subhealth" in females was significantly higher than that of males (chi(2) = 14.19, P < 0.01). The main risk factors of "subhealth" were occupational stress, psychological factors, bad habits and behaviors. 44.21% of the 8,417 staff were aware of the terminology "subhealth", and 36.84% thought themselves under "subhealthy" condition.

CONCLUSIONThe health condition of college and university staff in Guangdong was not satisfactory, thus it was essential to carry out active measures of prevention and intervention among this population.

Adult ; Aged ; Female ; Health Status ; Humans ; Male ; Middle Aged ; Prevalence ; Risk Factors ; Universities

Objective To explore the effect of limited posterior fossa decompression(LPFD)in the treatment of Amold-chiari I malformation.Methods A retrospective analysis was conducted among 29 patients undergoing LPFD from 2004 to 2008.The standard surgical procedures included small osseous decompression of the occipital bone above the forarnen magnum,removal of the posterior arch of the atlas,separation of the arachnoid adhesions,and reduction of the inferior cerebellar tonsils,a dural graft for duraplasty.The outcomes of the surgeries were evaluated using the Tator criteria.Results Excellent results were obtained in 23(79.3%)patients according to the Tator scores,and good results were achieved in 6(20.7%)patients.During the follow-up of 15 patients,the syrmgomyelia was found to be further reduced in 9 patients,and 1 patient experienced recurrence.Conclusion Limited posterior fossa decompression is effective for management of Amold-chiari I malformation with minimal invasiveness and complications.

OBJECTIVETo screen for genetic mutations in 35 patients with Leber's hereditary optic neuropathy (LHON).

METHODSPolymerase chain reaction and DNA sequencing were used to screen for the presence of mitochondrial DNA mutations.

RESULTSThe total detection rate of top 3 common LHON mutations were 20.0%, which included 6 cases of ND4 11778 G to A, 1 case of ND1 3460 G to A. No ND6 14484 T to C mutation was detected. A ND4 G11719A synonymous mutation was found in all patients. In addition, 21 other mutations were discovered among 23 patients, among which 13 had a single mutation, 8 had a second mutations, and 2 had a third mutation. Among the 21 mutations, ND4 11778 G to A had a frequency of 28.6%(6/21). ND1 3552 T to A, ND6 14470 T to C, ND4 11794 T to C, ND1 3497 C to T and 3644 T to C respectively had a frequency of 19.0% (4/21), 19.0%(4/21), 14.3%(3/21), 9.5%(2/21) and 9.5%(2/21). Among the 3 patients who harbored a ND4 11794 T to C mutation, 2 were heteroplasmic and one was homoplasmic in nature.

CONCLUSIONThe ND4 11778 G to A mutation is common in the Top "3" primary mutations of patients with LHON. Candidate LHON mutation ND1 3552 T to A or ND1 3644 T to C resulted in LHON pathogenesis as single or synergistic effect. The visual impairment at onset of the disease with candidate mutation were better than the eyes with the ND4 11778 G to A mutation.

Adolescent ; Adult ; Child ; Child, Preschool ; DNA, Mitochondrial ; genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Optic Atrophy, Hereditary, Leber ; genetics

BACKGROUND: The present study was aimed at investigating the predictive parameters of erythropoietin (epoetin) hyporesponsiveness in patients on continous ambulatory peritoneal dialysis (CAPD). METHODS: We studied 40 patients with end-stage renal disease who had been receiving CAPD for at least 6 months and epoetin therapy for at least more than 2 months. Pearson's simple correlation and multiple stepwise linear regression analysis was used to discover what parameter can predict epoetin resistance. We expressed epoetin resistance index (ERI) as 'weekly epoetin dose/hematocrit/ body weight'. The dose of epoetin is titrated by about 25% every 2 to 4 weeks to maintain a target hematocrit level between 33% and 36%. RESULTS: We analyzed the relationship between ERI and other predictive parameters by Pearson's correlation. These results showed ERI has a statistically significant correlation with transferrin saturation (TS) (r=-0.327, p=0.042), total weekly Kt/Vurea (r=-0.423, p=0.018), serum albumin level (r=-0.458, p= 0.003), normalized protein catabolic rate (nPCR) (r=-0.479, p=0.006), normalized protein equivalent of total nitrogen appearance (nPNA) (r=-0.488, p=0.005) and serum C-reactive protein (CRP) (r=0.332, p=0.036). Regression analysis was performed using stepwise linear regression for multiple variables to discover the most independent variable which is correlated with ERI. ERI was entered as a dependent variable, whereas the other parameters (age, duration of peritoneal dialysis, serum albumin level, CRP, serum ferritin, total weekly Kt/Vurea, nPCR, nPNA, serum iPTH, serum aluminium, TS) were entered as independent variables. This analysis showed CRP is the most significant variable and, if CRP is excluded, nPNA is the significant variable. CRP has a statistically significant correlation with serum albumin level (r=-0.418, p=0.007) and total weekly Kt/Vurea (r=-0.366, p=0.043). High CRP group has more increased level of ERI (p<0.05), age (p<0.05) and serum creatinine level (p<0.05) than normal control, but more decreased level of serum albumin (p<0.01) and serum iron levels (p<0.05). CONCLUSION: These results indicate that CRP is the most important predictor of epoetin hyporesponsiveness.
Adult ; Anemia/*drug therapy/etiology/prevention & control ; Blood Chemical Analysis ; C-Reactive Protein/analysis/drug effects ; Comparative Study ; Dose-Response Relationship, Drug ; Drug Administration Schedule ; Drug Resistance ; Erythropoietin/*administration & dosage ; Female ; Human ; Kidney Failure, Chronic/*therapy ; Linear Models ; Male ; Middle Age ; Multivariate Analysis ; Peritoneal Dialysis, Continuous Ambulatory/*adverse effects/methods ; Predictive Value of Tests ; Prospective Studies ; Regression Analysis ; Treatment Outcome