1.Expression of Vascular Endothelial Growth Factor Receptor in the Lesions of Patients with Psoriasis
Fan ZHU ; Min ZHENG ; Zhang BAO
Chinese Journal of Dermatology 2003;0(07):-
0.05).These receptors were distributed evenly in all layers of epidermis in nor-mal controls,while intensively in granular layer of lesional skin.The significant overexpression of the recep-tors mainly presented in the papillary dermal microvessels of lesional skin compared to that of normal con-trols(P
2.3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review.
Hongmin ZHU ; Xinhua BAO ; Yao ZHANG
Chinese Journal of Pediatrics 2015;53(8):626-630
OBJECTIVETo investigate the clinical features and genetic characteristics of patients with 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) gene mutations.
METHODThe clinical data of a patient with novel HIBCH mutations were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center for Biotechnology Information and PubMed (up to December 2014) by using search terms" HIBCH", "3-hydroxy-isobutyryl-CoA hydrolase" or "beta-Hydroxyisobutyryl CoA Deacylase Deficiency". The clinical features, neuroimage and treatment of the patients with HIBCH gene mutations were studied.
RESULTThe patient was a girl who was born at term after an uneventful pregnancy to non-consanguineous healthy parents, she was hospitalized at 5 years and 5 months of age because of development delay for 5 years and 5 months and abnormal posture on the left of body for more than 10 days. The family history was unremarkable. Her psychomotor development was significantly delayed. Three times brain MRI between 2. 5 years and 5 years of age revealed bilateral symmetrical lesions in basal ganglia. At the age of 5 years and 5 months, she presented with acute encephalopathy and severe extrapyramidal symptoms preceded by fever. At that time, her brain MRI revealed aggravated lesions in bilateral basal ganglia, new lesions in the midbrain cerebral peduncle and pons, and cerebellar atrophy. The results of biochemical tests were normal. A novel compound heterozygous mutation of HIBCH gene, c. 1027C > G, p. H343D and c. 79-1G > T, splicing, were found in the parent. Further study showed that c. 1027 C > G mutation was inherited from her father and c. 79-1 G > T from her mother. Her symptoms were mitigated after "cocktail" therapy and symptomatic treatment. Repeated brain MRI revealed that the lesion in basal ganglia got better, the lesions in brain stem disappeared. Literature relevant to HIBCH published all around the world was reviewed, no Chinese cases with HIBCH gene mutations had been reported, 6 foreign cases with HIBCH gene mutations were reported. Among them, 5 patients were diagnosed as Leigh-like syndrome, with progressive neurodegenerative course, and symmetrical basal ganglia lesions on brain MRI. Another case was reported in 1982, with developmental delay and various physical malformations without data on his brain MRI. HIBCH gene mutational analysis showed that 4 cases had homozygous mutations, which were c. 950G > A (p. G317E) in two brothers, c. 219 _220insTTGAATAG (p. K73fsX86) and c. 1128_1129insT (p. K377X) respectively. Three of them died before 3 years old. Two cases had compound heterozygous mutations: c. 365A > G (p. Y122C) and IVS2-3C > G (p. R27fsX50); c. 517 + 1G > A and c. 410C > T (p. A137V). They were alive at the time of the report.
CONCLUSIONPatients with HIBCH gene mutation mainly presented as Leigh-like syndrome both in clinical manifestation and in neuroimage. HIBCH gene mutational analysis should be performed on children with Leigh-like syndrome, if the mutations of known genes of Leigh syndrome were negative.
Abnormalities, Multiple ; diagnosis ; genetics ; Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Female ; Heterozygote ; Homozygote ; Humans ; Infant ; Leigh Disease ; diagnosis ; genetics ; Magnetic Resonance Imaging ; Male ; Mutation ; Siblings ; Thiolester Hydrolases ; deficiency ; genetics
3.Clinical observation of combined chemoradiotherapy treatment on advanced esophageal carcinoma
Haipeng ZHU ; Yongxing BAO ; Chun ZHANG
Cancer Research and Clinic 2007;19(z1):19-22
Objective To observe the effect of radiotherapy and chemoradiotherapy in patients with esophageal cancer and analyze the associated factors of surviving with esophageal patients.Methods 60 cases were retrospectively analyzed in the study.They were divided into two groups according to the treatment methods,radiotherapy(RT)group and chemoraidiotherapy(CRT)group.The group CRT was divided into concurrent chemoraidiotherapy(CCRT)group and sequence chemoraidiotherapy(SCRT)group.The group RT and group CRT all use 6mvX line conventional therapy,common fraction 200 Gy/f,DT 60 to 70 Gy,Group CRT combine the chemotherapy concurrent or after radiotherapy.Results The 1,2,3 year survival rate of the group CRT and the group RT are 73.30%,46.70%,16.67%and 60.30%,16.67%,6.67% respectively,2 year survival of group CRT is beaer than group RT(P<0.05).(2)The 1,2,3 year survival rate of the group SCRT and CCRT are 88.89%,55.55%,22.22% and 84.21%,47.37%,15.79% respectively.The short-term side-effect is more serious,the patients could bear.The prognosis of the esophageal carcinoma is closely associated with treatment methods and clinical stage.Conclusion Chemotherapy combined with radiotherapy for advanced esophageal cancer improved the survival.Chemoradiotherapy is an effective treatment for advanced esophageal carcinoma,diagnosis and treatments in early stage are especially important.
4.A Convenient Method to Select DNA Fragments of Cephalosporium acremonium with Promoter Function
Pi-Yan ZHANG ; Chun-Bao ZHU ; Bao-Quan ZHU ; Wen-Jie ZHAO ;
Microbiology 1992;0(03):-
A promoter-trap vector pGBT14 for selecting promoters of fungus gene was constructed with E. coli-yeast shuttling plasmid pGBT9. Using this vector, a0. 5-2. 0kb chromosomal DNA library of Cepholosporium acremonium was constructed, and twenty four DNA fragments with promoter function in Saccharomyces oerevisiae Y153 were selected from this DNA library. And the promoter function of these DNA fragments was analyzed.
7.The correlation analysis of coagulation detection and blood routine parameters of sudden hearing loss.
Fengxiang BAO ; Shujia ZHANG ; Yanping ZHANG ; Xuetao ZHU ; Weiwei LIU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2015;29(1):52-56
OBJECTIVE:
Through the analysis of coagulation convention and blood routine parameters of sudden hearing loss (SHL) patients, further prove the correlation of sudden deafness and the the inner ear microcirculation, to guide clinical diagnosis and treatment.
METHOD:
Select 424 patients (448 ears) with sudden deafness in our department to SHL group. According to hearing curve is classified into low intermediate frequency descent group, high frequency drop and full frequency group, and drawing 244 cases in the same period of hospitalization deviated septum, vocal cord polyp patients as control group. All patients' coagulation detection, D-dimer, blood leukocytes, neutrophils and platelet count percentages were analyzed. Then a meaningful factor multivariate Logistic regression analysis was made.
RESULT:
There was a statistically significant difference between the two groups' prothrombin time, international normalized ratio, activated partial thromboplastin time, thrombin time measurement, fibrinogen, D-dimer, platelet count, white blood cell, neutrophil ratio(P<0.05); Logistic regression analysis showed that the prothrombin, thrombin time measurement, fibrinogen, D-dimer, neutrophil incidence of sudden hearing loss associated risk factors.
CONCLUSION
SHL in patients with coagulation dysfunction may be involved in the occurrence of SHL development mechanism, and there is a correlation of the SHL and the dysfunction of inner ear microcirculation.
Blood Coagulation Disorders
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complications
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Ear, Inner
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blood supply
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Fibrin Fibrinogen Degradation Products
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analysis
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Fibrinogen
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Hearing Loss, Sudden
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blood
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complications
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Humans
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Incidence
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Risk Factors