Abnormalities, Multiple ; diagnosis ; pathology ; physiopathology ; Branchio-Oto-Renal Syndrome ; diagnosis ; pathology ; physiopathology ; therapy ; Child ; Deafness ; etiology ; physiopathology ; Diagnosis, Differential ; Ear ; abnormalities ; Female ; Humans ; Kidney ; abnormalities ; Renal Insufficiency ; etiology ; physiopathology ; therapy

Best vitelliform macular dystrophy ( BVMD ) is an autosomal dominant disease mostly caused by mutations in BEST1 gene. These mutations change the normal physiological functions of BEST1-encoded bestrophin-1 protein, and finally lead to a reduction of visual acuity. This review is composed of the following aspects: the structure and functions of BEST1 gene, the characteristics of the mutations, clinical features of BVMD, genotype-phenotype correlations as well as possible gene therapy. Our contribution serves for further research on BVMD and BEST1 gene.

Objective To explore the predictive value of P wave dispersion (Pd) and maximum P wave duration (Pmax) of 12 lead ECG in patients with atrial arrhythmia.Methods51 cases of atrial arrhythmia group from October 2013 to April 2015 in Jiashan County First People's Hospital, patients with frequent atrial premature atrial tachycardia, were examined for the determination of P wave dispersion by 12 lead electrocardiograms (Pd) and maximum P wave duration (Pmax), and 53 healthy persons (control group) were compared.ResultsAtrial arrhythmia group Pd and Pmax were significantly higher than the control group, the rate is Pmax=100ms with Pd=40ms high prediction of atrial arrhythmia sensitivity, specificity and diagnostic, Pd=40ms=100ms combined with Pmax diagnosis, the sensitivity increased, but the specificity and diagnostic rate of decline.ConclusionPd is an effective index to predict atrial arrhythmias, and the combined detection of Pd and Pmax can improve the diagnostic sensitivity.

Objective To study the curative effect and characteristics of all -transretinoic acid (ATRA) and arsenic acid (As2 O3 )combination chemotherapy for acute promyelocytic leukemia (APL).Methods ATRA (30 -60mg/d),As2 O3 (0.1%As2 O3 d1 -28),chemotherapy(anthracycline -based chemotherapy regimens and homoharringtonine -based chemotherapy regimens or high -doses of cytosine arabinoside and small -doses of metho-trexate)were used alternately 4 -5 cycles.Results 12 cases had complete response(CR),CR rate was 100%,first cases and relapse cases all got CR,the median time needed 30 days to get CR.Follow -up deadline,all cases 10 year disease -free survival (DFS )rate was 100%,all reexamination minimal residual disease (MRD)was negative. Conclusion Using this method to treat adult APL,the CR rate is high,has less adverse reaction,and did not produce resistance phenomenon.It can be used for APL consolidation and maintenance therapy.This is one of the ways that can be recommended in the treatment.

Objective To explore the diagnosis for early stage lung cancer with "normal" plain CT scan in order to draw the concern of physician to these patients. Methods We reviewed and analyzed 3 cases of central bronchogenic carcinoma with normal plain CT scan at first visit who were confirmed through fiber bronchoscope examination and PET/CT scan later. Then we compared the values of some diagnostic methods for early-stage central bronchogenic carcinoma. Results Three patients were all males with long smoking history. They came to hospital for cough and bloody sputum. All their plain CT scan showed "no abnormal findings", but their symptom continued. Later, the fiber bronchoscope examination and PET/CT scan strongly suggested that they were suffered from central bronchogenic carcinoma, and then the pathological findings and sputum cytology confirmed the diagnosis. Two patients received lobectomy, and the other one was suggested to accept radiotherapy because of his poor lung function. Conclusions The positive rate of plain CT scan for early-stage central bronchogenic carcinoma is relatively low. Thus, some of these patients lost the chance of surgery and combined therapy. So physicians should pay more attention to these patients with symptoms of persistent bloody sputum or obstructive pneumonia, even if the plain CT scan is negative at first visit. Using PET/CT and fiber bronchoscope examination, physicians can confirm the diagnosis of central bronchogenic carcinoma. So these two methods are important in the diagnosis for early-stage central bronchogenic carcinoma without any abnormal plain CT scan findings.

Objective To investigate the correlations of plasma B-type natriuretic peptide (BNP) and carbohydrate antigen 125 (CA125) levels in elderly patients with chronic heart failure (CHF) and to evaluate the clinical value.Methods A total of 124 elderly patients diagnosed as chronic heart failure were recruited.Patients with CHF were divided into the stage Ⅱ group,stage Ⅲ group and stage Ⅳ group according to the New York Heart Association (NYHA) classification.35 health subjects were randomly enrolled as the control group.The plasma levels of BNP and CA125 between different groups were compared.The correlations of the plasma BNP and CA125 levels with chronic heart failure were analyzed.60 cases with clinical improvement by aggressive treatment were followed up and the plasma levels of CA125 and BNP in them were tested.The changes in heart failure indicators were analyzed before and after treatment.Results The plasma BNP and CA125 levels were higher in patients with CHF than in control subjects (all P＜0.01).The plasma BNP and CA125 levels were gradually increased in the stage Ⅱ,Ⅲ and Ⅳ group (all P＜0.01).The plasma levels of BNP and CA125 were negatively correlated with left ventricular ejection fraction and positively correlated with left ventricular end-diastolic diameter (r=-0.75,-0.73,0.72,0.63,respectively,both P＜0.01).There were no significant differences in the plasma levels of BNP and CA125 between patients with or without atrial fibrillation (both P ＞0.05).Conclusions Plasma BNP and CA125 levels are correlated with NYHA classification in CHF,which can be used as indexes for the diagnosis,treatment and prognosis of CHF.

Both monitoring of occupational hazards and assessment of healthy effects on VDT operators were made. The results showed that there were several occupational hazards in VDT,including insalubrious microclimate and air ion condition, lower illuminance, higher noise, some doses of x-radiation, and unfitting ergonomics. The healthy effects of the hazards of the VDT mainly involved the operator's nervous system, psychology and behavior, eyes, musculoskeletal system as well as the woman operator's menses and pregnancy, especially in the 18 to 25 age bracket who had more VDT work hours than that of the others, it suggested that the various preventive measures against the hazards of the VDT must be strengthened.

VDT operators' occupational stress and psy-chophysical state were studied. The resultsshowed that the nature, environment and require-ments of VDT operation shaped the major occupa-tional stress in VDT operation. The longer VDTworking hours and more workloads gave the opera-tors more occupational strains. VDT operators hada lower satisfactory level to the job and lower psy-chological health level than contral group, espe-cially on obsession and depression. VDT operationperhaps gave the operators some kinds of psycho-physiological troubles. We did not find there wereharmful effects of VDT on the operators' autonom-ic nervous functions.

Adolescent ; Atrial Appendage ; Diagnostic Errors ; Female ; Humans ; Tachycardia, Ectopic Atrial ; diagnosis ; Tachycardia, Sinus ; diagnosis