Analysis of hypertrophy-related factors in 82 adult patients with hypertrophic port-wine stains / 中华皮肤科杂志

Objective To analyze clinical features of and hypertrophy-related factors in patients with hypertrophic port-wine stains (PWS). Methods Patients with PWS were enrolled into this study from Anhui Provincial Hospital and the First Affiliated Hospital of Anhui Medical University between January 2010 and August 2014. Clinical features of hypertrophic PWS were investigated. The factors related to hypertrophy in PWS were analyzed by univariate and multivariate unconditional logistic regression analyses. Results A total of 262 patients with PWS were enrolled, 82 (30 males and 52 females)of whom had hypertrophic PWS with a median age of 32.5 years (range, 18 - 54 years). Among the 82 patients, 66(80.48%)had plaque-like hypertrophic PWS, 9(10.98%)had papular or nodular type, and 7 (8.54%)had mixed type; 56.10% (46/82)were aged ≥ 30 years, 41.46% (34/82)varied from 11 to 30 cm2 in lesional area, and 85.36% (70/82)showed purple lesions. There was a significant difference between patients with hypertrophic PWS and those with flat PWS in the distribution of age, lesional area and color(χ2 = 25.559, 10.580, 90.630, respectively, all P 0.05). Multivariate unconditional logistic regression analysis revealed that an age ≥ 30 years(OR = 2.889, 95%CI: 1.459 - 5.721)and purple lesions(OR = 19.984, 95% CI: 5.704 - 70.023)were factors related to skin hypertrophy in PWS. Conclusion An age ≥ 30 years and purple lesions seem to be hypertrophy-related factors in PWS.

Identification of a novel NOTCH3 mutation in a family featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze potential mutations of NOTCH3 gene in a Chinese family featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL) in order to facilitate genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>The proband and related family members and 100 healthy controls were recruited. The NOTCH3 gene was screened for mutations by polymerase chain reaction and direct DNA sequencing. PolyPhen-2 and SIFT software were used to predict the protein function.</p><p><b>RESULTS</b>The proband and two affected individuals from the family were adult-onset, with main clinical manifestations including recurrent transient ischemic attacks and(or) strokes, cognitive impairment, memory decline, and depression. MRI findings suggested multiple cerebral infarcts and severe leukoencephalopathy. A novel heterozygous missense mutation c.3043T> A (p.Cys1015Ser) located in exon 19 of NOTCH3 gene was identified not only in the proband and two patients, but also in an asymptomatic relative from the family. The same mutation was detected in none of the 100 unrelated healthy controls. Function analysis suggested that this mutation can severely affect the functions of this protein. Multiple sequence alignment revealed that the mutation site was extremely conserved in various species.</p><p><b>CONCLUSION</b>A novel heterozygous Cys1015Ser mutations in exon 19 of the NOTCH3 gene probably underlies the CADASIL in this family.</p>

Clinical analysis of 76 cases of disseminated herpes zoster / 中华皮肤科杂志

Objective To analyze the clinical feature and prognostic predictors of disseminated herpes zoster.Methods A retrospective study was carried out on 76 patients with disseminated herpes zoster collected from 2005 to 2012 in the Department of Dermatology,Anhui Provincial Hospital.Statistical analysis and comparisons were done.Results The incidence rate of disseminated herpes zoster was highest in the three age groups:70-79 years,30-39 years,and 60-69 years.Of these patients,59.21％ suffered from complications,and 44.74％ from postherpetic neuralgia.Logistic regression analysis showed that the occurrence of complications was significantly associated with age and impaired cellular immune function,and the incidence of postherpetic neuralgia with age,impaired cellular immune function and presence of underlying diseases.Conclusions There is a high incidence of complications in patients with disseminated herpes zoster,and impaired cellular immune function may be an important factor affecting its prognosis.

Detection of osteopontin in sera,urine and renal tissue in patients with systemic lupus erythematosus and its significance / 中华皮肤科杂志

Objective To investigate the expression of osteopontin (OPN)in serum,urine and renal tissue of patients with systemic lupus erythematosus (SLE)and its relevance with organ damage in and activity of this disease.Methods Enzyme-linked immunoabsorbent assay(ELISA)was applied to detect the concentration of OPN in the sera of 100 patients with SLE and 30 sex-and age-matched normal human controls as well as in the urine of 57 patients with SLE and 15 normal human controls.Renal tissue was obtained from 3 patients with lupus nephritis and subjected to immunohistochemistry for the observation of OPN.Results The level of OPN was significantly higher in the sera and urine of patients with SLE than in those of normal human controls (64.03 ±72.87 μg/L vs 29.88±1 1.28μg/L,454.87±231.63 μg/L vs 122.67±39.47μg/L,both P<0.05).Increased level of OPN in sera and urine was also observed in patients with active SLE com-pared with those with inactive SLE (80.92±87.49μg/L vs 36.43±23.48μg/L,584.36±207.15 μs/L vs 28 1.08±1 3 1.92μg/L,both P<0.05).A positive correlation was noted between the serum level of OPN and SLE disease activity index(SLEDAI)(r=0.462,P<0.01),and the level of urine OPN was positively correlated with both SLEDAI and the concentration of urine immunoglobulin G.urine mierualbumin.urine α1-microglo-bulin,urine β2-microglobulin(r=0.901,0.458,0.359,0.342,0.409,respectively,all P<0.05).OPN was found in renal tubule epithelia of the three patients with lupus nephritis.Conclusion OPN may be involved in the pathogenesis of SLE and associated with the renal damage in patients with lupus nephritis.

Clinical analysis of 18 cases of neurosyphilis / 中华皮肤科杂志

Objective To analyze the clinical features, diagnosis, treatment and prognosis of neurosyphilis. Methods Clinical data on and laboratory findings in 18 cases with neurosyphilis collected in the Affiliated Provincial Hospital, Anhui Medical University from 2006 to 2008 were retrospectively studied.Results Among the 18 patients, 3 sufferred from asymptomatic neurosyphilis, 1 from meningeal syphilis, 7 from meningovascular syphilis, 5 from paralytic dementia, and 2 from intracranial space-occupation. Toluidine red unheated serum reagin test (TRUST) and Treponema pallidum particle agglutination test (TPPA) of sera were positive in all the patients; cerebrospinal fluid (CSF) TRUST was positive in 16 patients, and CSF TPPA in all patients. An increase was observed in CSF leukocyte count in 7 patients and in CSF protein in 13 patients.The findings on cerebral magnetic resonance imaging (MRI) mainly included demyelination, brain atrophy,cerebral infarction, etc. All the patients, except 2 with a TRUST titer of 1:4, experienced a 4-fold decrease in TRUST titer within a 3-month follow up. Clinical symptoms of neurosyphilis improved in all patients except 1 with paralytic dementia. Conclusions The diversity of clinical manifestations usually leads to the misdiagnosis of neurosyphilis, which should be diagnosed based on comprehensive analysis of clinical characteristics as well as laboratory and imaging findings. Early diagnosis and treatment are beneficial to its prognosis.

Amino acid substitution or insertion patterns in penicillin-binding protein 2 in Neisseria gonorrhoeae isolates with reduced susceptibility to ceftriaxone / 中华皮肤科杂志

Objective To investigate the amino acid patterns in penicillin-binding protein 2(PBP2)in Neisseria gonorrhoeae isolates with reduced susceptibility to ceftriaxonc.and the relationship between the amino acid patterns and reduced ceftriaxone susceptibility.Methods DNA was extracted from 13 clinical isolates of N.gonorrhoeae.including 11 strains with decreased susceptibility to ceftriaxone and 2 sensitive isolates.The full-length penA gene encoding the penicillin-binding protein 2 was amplified and sequenced.BLASTn and BLASTx programs were used to assess the insertion and substitution patterns of nucleotides in penA gene and of amino acids in PBP2,respectively.Results BLASTn analysis revealed insertion or substitution of 18-38 nucleotides in the penA gene of gonococcal isolates with reduced ceftriaxone susceptibility.As shown by BLASTX analysis.there were five patterns of amino acid substitution or insertion in PBP2 of the 11 isolates with reduced ceftriaxone susceptibility.However.mosaic structure of PBP2 was not found in any of these isolates.Conclusion Mosaic PBP2 seems not to be the major factor contributing to the decrease in susceptibility of N.gonorrhoeae to ceftriaxone.

Study on the relationship between polymorphisms of genes (CYP17, CYP19 and SULT1A1) and susceptibility to breast cancer in Chinese women / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between polymorphisms of genes (CYP17, CYP19 and SULT1A1) involved in estrogen metabolism and susceptibility to breast cancer in Chinese women.</p><p><b>METHODS</b>A case-control study was performed. PCR-base restriction fragment length polymorphism (PCR-RFLP) and short tandem repeat polymorphism (STRP) assays were used to detect the polymorphism distribution of CYP17, CYP19 and SULT1A1 in 213 breast cancer cases and 430 matched controls. Logistic regression analyses were used to determine the OR, multivariate adjusted OR and 95% CI of each and all three genes and estrogen exposure factors on the risk of breast cancer. Relationship between polymorphisms and clinic-pathological features was also assessed.</p><p><b>RESULTS</b>The frequency of A2 allele of CYP17 was 49.8% in cases and 49.1% in controls (P > 0.05). The frequency His allele of SULT1A1 in cases (13.6%) was significant higher than that of controls (9.5%) (P = 0.03). There was also significant difference in the frequencies of (TTTA)10 allele CYP19 which was 12.4% in cases and 8.2% in controls (P = 0.02). Multigenic model indicated that there was an increased risk of breast cancer with more numbers of high-risk genotypes in a dose-response effect (trend P = 0.05). Data from multivariate analysis showed that the allele of SULT1A1 His and CYP19 (TTTA)10 was positively associated with the risk of breast cancer. Other well-established risk factors as higher estrogen exposure including total years of menstrual, early menarche etc, and women with a higher BMI and WHR were all served as independent risks.</p><p><b>CONCLUSION</b>This study indicated that the polymorphisms of estrogen-metabolizing genes were related to breast cancer.</p>

Observation on therapeutic effect of Shaoshanhuo needling method on periarthritis of shoulder / 中国针灸

<p><b>OBJECTIVE</b>To observe therapeutic effect of Shaoshanhuo needling method on periarthritis of shoulder.</p><p><b>METHODS</b>One hundred and twenty cases were randomly divided into two groups: a treatment group of 57 cases and a control group of 63 cases. The treatment group were treated with Shaoshanhuo needling method and massage combined with functional exercise of shoulder joint, and the control group were treated with warming acupuncture and moxibustion combined with massage and functional exercise of shoulder joint. Their therapeutic effects were evaluated after 2 courses.</p><p><b>RESULTS</b>The effective rate and the cured rate were 96.5% and 70.2% in the treatment group, and 88.9% and 50.8% in the control group respectively, with no significant difference between the two groups in the effective rate (P>0.05), but with a significant difference between the two groups in the cured rate (P<0.05), the treatment group being higher than the control group.</p><p><b>CONCLUSION</b>Shaoshanhuo needling method has a better therapeutic effect on periarthritis of shoulder.</p>

Polymorphisms of estrogen-metabolizing genes and breast cancer risk: a multigenic study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Endogenous estrogen plays a very important role in the carcinogenesis and progression of breast cancer. The enzymes involved in the biosynthesis and metabolism of estrogen have been proposed to contribute to this effect. To examine this hypothesis, we conducted a case-control study to investigate the relationship between polymorphisms of genes responsible for estrogen biosynthesis (CYP17, cytochrome P450c17a and CYP19, aromatase cytochrome P450) and estrogen sulfation of inactivation (SULT1A1, sulfotransferase1A1) and the risk of breast cancer in Chinese women.</p><p><b>METHODS</b>This study involved 213 breast cancer patients and 430 matched controls. PCR-based restriction fragment length polymorphism (RFLP) and short tandem repeat polymorphism (STRP) assays were used to detect the mononucleotide transition of CYP17 and SULT1A1 and tandem repeat polymorphism of CYP19. Logistic regression analyses were used to determine OR and 95% CI of each and all three high-risk genotypes, of all three genotypes combined, and of estrogen exposure factors. The relationship between each high-risk genotype and clinicalpathological characteristics were also assessed.</p><p><b>RESULTS</b>The frequency of A2 allele of CYP17 was 49.8% in cases and 49.1% in controls (P = 0.82). The frequency of His allele of SULT1A1 was significantly higher in cases (13.6%) than in controls (9.5%) (P < 0.05). There was also significant difference of the (TTTA) 10 allele of CYP19 which was 12.4% in cases and 8.2% in controls (P < 0.05). When the CYP17 A2 allele, CYP19 (TTTA) 10 and SULT1A1 His allele were considered as the "putative high-risk" genotype, there was an increased risk of breast cancer with the number of high-risk genotypes in a dose-response effect (trend, P = 0.05). In multivariate analysis, the SULT1A1 genotype remained the most significant determinant for breast cancer, with OR = 2.37 (95% CI 1.23-4.74), followed by CYP19, with OR = 1.75 (95% CI 1.27-3.56). The (TTTA) 10 allele of CYP19 was associated with tumor size, and the His allele of SULT1A1 associated with status of lymph node metastasis.</p><p><b>CONCLUSIONS</b>This study supports the hypothesis that breast cancer can be initiated by estrogen exposure and that estrogen metabolizing genes are involved in this mechanism. This multigenic model is useful for identifying individuals who are at higher risks of breast cancer.</p>

Evaluation of methods for total nasal reconstruction / 中华整形外科杂志

<p><b>OBJECTIVE</b>To evaluate the advantages, disadvantages and their indications of total nasal reconstruction with different techniques.</p><p><b>METHODS</b>A series of total nasal reconstruction were treated with four methods from 1975 to 2003. These methods were tubed flap of arm,midline forehead flap with skin graft, midline forehead flap with bilateral frontotemporal flaps for repairing the donor site, and expanded forehead flap.</p><p><b>RESULTS</b>All of the patients were treated successfully. The shape and function of the reconstructed noses were satisfactory. However, the traditional forehead flap with skin graft may leave a unsightly big and black scar on the forehead. The technique of the tubed flap of arm could provide enough tissue without remaining forehead scar and be easily shaped, but it required long period, multiple procedures and body fixation for three weeks.</p><p><b>CONCLUSIONS</b>Midline forehead flap with bilateral frontotemporal flaps for repairing the donor site may be good for small nose reconstruction while expanded forehead flap could reconstruct a big nose. Tubed flap of arm may be used to the patients who do not wish to leave any scar on the forehead. Forehead flap with skin graft to repair the donor sit- should generally be avoided for nose reconstruction.</p>