Objective To report the first case of ectodermal dysplasia/skin fragility syndrome in China. Methods The clinical data, transmission electron microscopic examination and immunohistochemical analysis of this patient were evaluated. Results The patient was a 3-year-old girl who presented increased skin fragility with trauma-induced, blisters and erosions, combined with short and sparse hair, finger-and toe-nail dystrophy and palmoplantar keratoderma. Transmission electron microscopy showed a loss of keratinocyte-keratinocyte adhesion, widening of intercellular spaces and a reduced number of hypoplastic desmosomes. Immunohistochemical analysis revealed a complete absence of staining for plakophilin 1. Conclusion Ectodermal dysplasia/skin fragility syndrome is a rare autosomal recessive inherited disease characterized by clinical manifestations as well as electron microscopic features and immunohistochemical evidence.

To discuss the status quo of gallbladder cancer in China,88 articles published in China were collected and the clinical data of 7882 patients who were suffering from gallbladder cancer was analyzed.The requirements for the literature were:domestic articles published from 1980.1 to 2008.6,the gallbladder cancer cases must exceed 50,the cases must come from the same domestic hospital,and if the cases were reduplicative,the maximum were selected.Analysis of the data showed that primary carcinoma of the gallbladder was the most common malignant tumor in the biliary tract,with a higher incidence in females than males.The cancer's pathologic characteristics of undiscoverable growth and poor differentiation led to its clinical significance of difficult early stage diagnosis,high degree of malignancy,poor prognosis,and adenocarcinoma formation.Although the technique of surgical operation has constantly progressed over time,gallbladder cancer surgery possesses a lower rate of radical resection.Every biliary surgeon should brainstorm and deliberate about how to face the status quo of gallbladder cancer in China.This article participates in that discussion by identifying several noticeable problems in the diagnosis and treatment of gallbladder cancer.

This article reports the results of the quantitative analysis for the DNA content of cell nucleus of the skin lesion in patients with endemic arsenism by using the technique of flow cytometry, the skin lesions include palmoplantar hyperkeratosis, abnormal pigmentation on trunk and skin cancers. Our results showed that the DNA indices of the different skin lesions of patients in endemic arsenism were significantly higher than those of controls(P

Objective To discuss the efficacy and safety of transurethral plasmakinetic resection of the prostate(PKRP) for benign prostatic hyperplasia(BPH).Methods A British made Bipolar plasmakinetic resection system(Gyrus) was employed in this series.Started from the 6 o’clock point,the middle lobe of the prostate was resected,followed by the left and right lobes,which were resected down to the prostate capsule.And then the bladder neck was cut down.The apical tissues were resected to the anterior border of the seminal colliculus.After the operation,a F22 three-channel catheter was indwelled for 3 to 5 days after the operation,and a balloon was place in the bladder neck.Results The procedure was completed successfully in all of the cases with a mean operation time of(85.0?12.0) min,and a median blood loss 115.0 ml(30 to 650).Ten patients received blood transfusion during the operation(200 to 400 ml).No case showed transurethral resection syndrome or obturator nerve reflex.Fourteen patients developed inflammatory stricture of the anterior ureter and was then cured by dilating the urinary tract;15 cases showed transient urinary incontinence and was cured after pelvic floor muscle training for 1 to 3 weeks.Follow-up was available in the patients for 1 to 6 months,during which the mean Qmax of the patients significantly increased compared to that preoperation [from(7.6?2.4) ml/s to(22.6?3.4) ml/s,t=13.582,P=0.000),and the IPSS and life quality score markedly decreased [from 27.3?1.5 and 4.3?0.4 to 7.0?1.2 and 2.1?0.8;t=16.394 and 9.761,P=0.000 and 0.005,respectively] Conclusion PKRP is an effective and safe treatment for BPH.

Gallbladder volvulus is defined as the rotation of the gallbladder on its mesentery along the axis of the cystic duct and cystic artery. It is an unusual and rare occurrence with a predilection for women in their sixth or eighth decades of life. Only about 400 cases have been reported in the literature. The etiology of gallbladder volvulus remains speculative; however, the presence of a redundant mesentery is a prerequisite for torsion. Clinical symptoms are non-specific. Some form of right upper quadrant abdominal pain is nearly always present. Although recent advances in radiographic studies have aided in the diagnosis of many diseases,radiographic studies remain nonspecific in diagnosing gallbladder torsion. Laboratory evaluations are often nonspecific. An elevated white blood cell count is a frequent finding.Liver function tests are commonly normal. Gallbladder volvulus leads to gangrene or perforation because of occlusive obstruction of biliary drainage and blood flow. With early diagnosis and surgical intervention, the disease maintains a low mortality. Here, we present a review of the literature about gallbladder volvulus in order to enhance recognition of gallbladder volvulus.

Objective To develop a method detecting hMAM gene expression of breast cancer cell lines in peripheral blood.Methods The hMAM gene was cloned and confirmed by agarose gel electrophoresis and sequence analysise,the standard substance of real-time quantitative polymerase chain reaction (FQ-PCR )was prepared. The breast cancer cell lines MDA-MB453、MCF7 were cultured and the blood sample model was made.The hMAM expression of breast cancer cell lines blood model and 10 cases of breast cancer patient peripheral blood were detected by RT-PCR and FQ-PCR,GAPDH gene expression as contrast.Results The production of PCR was cloned and testified by sequence.The correlation coefficient(r) of standard curve line of FQ-PCR was -1.0. The x?s and CV were 718.9?120.5 and 16.7% respectively.The hMAM expression of one breast cancer cell lines MDA-MB453 in 104 blood cells could be detected, but not detected in the breast cancer cell lines MCF7. The hMAM expression was detected in 3 of 5 patients with sentinel nodes and in 1 of 5 patients with non-sentinel nodes.Conclusions It might be a good method for detecting breast cancer cell micrometastased in peripheral blood. The diffrernce of hMAM gene expression correlates with the type of breast cancer cell lines.

Objective:To observe the effects of acupuncture-moxibustion on symptoms,signs,and Th1/Th2 cytokine,and regulation on Th1/Th2 in patients with perennial allergic rhinitis(PAR) to provide experimental basis for acupuncture treating allergic rhinitis and investigate the mechanism.Methods:Thirty patients with allergic rhinitis were treated with acupuncture-moxibustion,and 30 healthy cases were the control.Clinical symptoms,signs,and nasal mucosa were observed,and contents of IL-4,IFN-γ,and granulocyte-macrophage colony stimulating factor (GM-CSF) in the supernatant of peripheral blood monocyte cultured with PHA by ELISA,before treatment,after one course of treatment,and after two courses of treatment.Results:Before the treatment,the contents of IL-4,and GM-CSF were higher (P＜0.01) and IFN-γ was lower (P＜0.01) in the PAR cases than in the control cases.In the PAR cases,the content of GM-CSF was positive correlation with that of IL-4 (P＜0.01),and negative correlation with IFN-γ (P＜0.01).After the treatment,contents of IL-4 and GM-CSF were lowed (P＜0.01),content of IFN-γ was increased (P＜0.05),and all IL-4,GM-CSF and IFN-γ had no difference compared with those in the control cases.Conclusion:Acupuncture moxibustion could improve the symptoms and signs in PAR patients,enhance the immune function.It may be achieved by regulating the expression of Th1 and Th2,correcting the imbalance of Th1/Th2.

OBJECTIVE: Investigate common deafness gene mutations in patients with severe and profound non-syndromic hearing loss in Liaoning in order to understand their hereditary etiologies and characteristics at the molecular level. METHOD: Peripheral blood samples were obtained and the DNA templates were extracted from 128 non-syndromic hearing loss patients who are sporadic in clinics. The deafness gene chip was applied to detect hot-spot deafness gene mutations including GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA. Deafness etiology questionnaires, pure tone audiometry, auditory brainstem response, tympanometry and temporal bone CT were also applied. RESULT: Various types of gene locus mutations were seen in 52 of the 128 patients (40.6%); (1) GJB2 gene mutations (n=22) included c. 235 del C homozygous mutation (n=10), c. 235 del C heterozygous mutation (n=5); c. 176_191 del 16 heterozygous mutation (n=l); c 35 del G heterozygous mutation (n=l); c. 235 del C/c. 299_300 del AT mutation (n=l), c. 235 del C/c. 176_191 del 16 mutation (n=l), c. 35 del G/c. 176_191 del 16 mutation (n=l); c. 299_300 del AT/c. 919-2 A>G mutation (n=l), c. 235 del C/c. 919-2 A>G mutation (n=l). (2) SLC26A4 gene mutations (n=30) included c. 919-2 A>G homozygous mutation (n=6), c. 919-2 A>G heterozygous mutation (n=17), c. 2168 A>G homozygous mutation (n=l), c. 2168 A>G heterozygous mutation (n=2), c. 2168 A>G/c. 919-2 A>G mutation (n=2), c. 919-2 A>G/GJB2 c. 235 del C mutation (n=2); (3) No GJB3 and mitochondrial 12S rRNA mutation. Genetic deafness was confirmed at the gene level in 24 cases (18.8%) and 28 patients (21.9%) were diagnosed as carriers of genetic deafness gene mutations. CONCLUSION Genetic deafness occupies a large population in deaf community in Liaoning. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss and provide theoretical guidance.
Adolescent ; Child ; Child, Preschool ; China ; Connexins ; DNA Mutational Analysis ; Deafness ; genetics ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Mutation

OBJECTIVE: To investigate the expression of vascular endothelial growth factor in the nasal mucosa of chronic rhinosinusitis with nasal polys patients, and explored the regulation of clarithromycin on VEGF. METHOD: RT-PCR was used to detect the expression of VEGF in nasal mucosa from healthy control and CRSwNP. Nasal mucosal tissue explant culture measure and ELISA were used to explore the effect of clarithromycin on VEGF expression. RESULT: (1) VEGF mRNA expression level was significantly increased in CRSwNP compared with control and showed a statistic difference (P < 0.01). (2) There was a significant decrease in CRSwNP group undergo clarithromycin treatment on protein expression level of VEGF and showed a statistic difference (P < 0.05). CONCLUSION VEGF were overexpressed in CRSwNP group, which presume that play an important role in the pathogenesis of nasal polyps. Clarithromycin may play a therapeutical role on chronic rhinosinusitis through down-regulated the expression of VEGF.
Adult ; Chronic Disease ; Clarithromycin ; pharmacology ; Female ; Humans ; Male ; Nasal Mucosa ; metabolism ; Nasal Polyps ; complications ; Rhinitis ; complications ; metabolism ; Sinusitis ; complications ; metabolism ; Vascular Endothelial Growth Factor A ; metabolism ; Young Adult