X-linked dominant protoporphyria:report of a pedigree and detection of ALAS2 gene mutations / 中华皮肤科杂志

Objective To report a pedigree with X?linked dominant protoporphyria(XLDPP), and to detect 5?aminolevulinic acid synthetase 2(ALAS2)gene mutations in this pedigree. Methods A clinical investigation was performed in a pedigree with XLDPP, and relevant data were collected from family members. A next?generation sequencing method was applied to screen possible mutation sites, and Sanger sequencing was performed to determine pathogenic gene mutations. Dermoscopy was conducted to observe skin lesions in the patients with XLDPP, and the Fotofinder system and very high frequency (VHF) ultrasound system were utilized to assess the severity of photodamage. Liver and gallbladder ultrasonography as well as blood examination were performed for all the family members. Results A deletion mutation, c.1706?1709ΔAGTG, was detected in the ALAS2 gene on the X chromosomes of all the patients in this family, which led to replacement or loss of 19-20 C?terminal residues through transcriptional frameshifting, and eventually caused an increase in ALAS2 activity. In the patients with XLDPP, skin photodamage was relatively severe;protoporphyrin?induced hepatobiliary damage was observed and aggravated with age;anemia and iron deficiency occurred sometimes. Conclusion The deletion mutation c.1706?1709ΔAGTG of the ALAS2 gene may be the underlying cause of XLDPP in this pedigree.

Prognostic accuracy of the SCORTEN scoring system in patients with toxic epidermal necrolysis or Stevens-Johnson syndrome / 中华皮肤科杂志

Objective To evaluate the prognostic accuracy of the score of toxic epidermal necrolysis (SCORTEN) scoring system in patients with toxic epidermal necrolysis (TEN) or Stevens-Johnson syndrome (SJS).Methods Clinical data were collected from 39 patients with SJS/TEN hospitalized in Peking Union Medical College Hospital during April 1992 and March 2014,and retrospectively analyzed.Among the 39 patients,13 had died,and the other 26 patients,who were matched to the dead patients in a ratio of 2:1 for age,all had a definite diagnosis and were discharged with improved conditions.The SCORTEN scoring system was used to evaluate the 39 patients with SJS/TEN and calculate expected mortality.The expected mortality and actual mortality were compared between different groups stratified by age in the 39 patients.The receiver operating characteristic (ROC) curve was drawn to assess the prognostic accuracy of the SCORTEN scoring system.Results According to the SCORTEN scoring system,15 out of the 39 patients scored 1 point,14 scored 2 points,6 scored 3 points,and 4 scored 4 points.The total number of expected deaths was 6.808,while that of actual deaths was 13.There was no significant difference between the expected mortality and actual mortality in every SCORTEN score-based group.The area under curve (AUC) was 0.832 8,indicating a good predictive ability of the SCORTEN scoring system.Conclusion The SCORTEN scoring system can predict mortality in TEN/SJS patients at early stage.

Relative frequency and survival of primary cutaneous lymphomas: a retrospective analysis of 98 patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The World Health Organization and European Organization for Research and Treatment of Cancer (WHO-EORTC) classification in 2005 promoted the comparisons of primary cutaneous lymphoma (PCL) subtypes between different countries. The relative frequency of PCL varied according to geography. The study aimed to analyze the relative frequency and survival of PCLs in China and to compare the data with the published results from other countries.</p><p><b>METHODS</b>We analyzed 98 patients with PCLs over a 6-year period and reclassified them according to the most recent WHO-EORTC classification (2005). Disease-specific survival rate and curves according to specific subtypes such as mycosis fungoides, lymphomatoid papulosis, and primary cutaneous peripheral T-cell lymphoma, unspecified was also calculated.</p><p><b>RESULTS</b>The relative rate of PCL in China was distinct from those in Western countries. Our study showed a higher frequency of cutaneous T- and NK-cell lymphomas (CTCLs) (94%), and a lower frequency of cutaneous B-cell lymphomas (CBCLs) (6%). The 5-year survival rate of the total PCLs was 82%. There was no significant difference in the 5-year survival rate (P > 0.05 by Log-rank test) between CTCL (80%) and CBCL (100%).</p><p><b>CONCLUSIONS</b>The higher percentage of CTCL in China may provide a clue to further study the etiological factors of PCLs. Racial variations in factors such as HLA determinants may play a role in the development of CTCL.</p>

Epidemiological investigation of community-acquired methicillin resistant Staphylococcus aureus infection from 4 hospitals in Beijing / 中华检验医学杂志

ObjectiveTo investigate the prevalence,antibiotic characteristics as well as molecular background of community-associated methicillin-sensitive Staphylococcus aureus (CA-MRSA) from patients with skin and sofi tissue infections from 4 different hospitals in Beijing.MethodsFive hundred and one patients were enrolled from 4 hospitals prospectively.Patients with skin and soft tissue infections and no risk factors for healthcare-associated acquisition were included.Sample from the infection sites were collected for culture.Case report form was filled out for each patient.Antibiotic susceptibility test and molecular analysis was performed for each Staphylococcus aureus isolate.ResultsTotally 164 Staphylococcus aureus isolates were cultured from the patients with skin and soft tissue infections.Of them 5 isolates were CA-MRSA.These 5 CA-MRSA isolates harbored SCCmec Ⅰ, SCCmec Ⅲ, SCCmec Ⅳ,SCCmec Ⅴ and untypable,respectively.CA-MRSA was highly resistant to β-lactamase,levofloxacin,erythromycin and clindamycin,but susceptible to vancomycin,teicoplanin,linezolid,daptomycin,and trimethoprim/sulfamethoxazole.Prevalence of PVL in community-associated methicillin sensitive Staphylococcus aureus(CA-MSSA) and CA-MRSA were 41.9％ and 2/5.Other toxins expressed similarly between them.Combined with multilocus sequence typing (MLST) and spa typing,the major clones of CA-MSSA were ST398-t034,ST7-t796,ST398-t571,ST1t127,and ST188-t189,while in CA-MRSA were ST239-t037-SCCmec Ⅰ,ST239-t632-SCCmecⅢ,ST59-t437-SCCmecV,ST8-t008-SCCmecⅣ,and ST6-t701-NT.ConclusionsThe low prevalence of CA-MRSA in Beijing and complexity of the genetic background in CA-MRSA were observed.Clone spread is not found among CA-MRSAisolates.CA-MRSAexhibithigher resistancecomparedwithmethicillinsensitive Staphylococcus aureus (MSSA).Rational drug use scheme is called in the clinical practice to prevent development of high level resistance.

Case control study of gastroesophageal reflux in patients with systemic sclerosis / 中华风湿病学杂志

Objective To estimate the characteristics of gastroesophageal reflux (GER) and its clinical association with pulmonary arterial hypertension (PAH) in systemic sclerosis (SSc) patients.Methods Two hundred and five patients with SSc,who fulfilled the American College of Rheumatology criteria were consecutively recruited.GER was recognized in patients with symptom of heartburn or regurgitation.Demographic,clinical,and laboratory data were analyzed.A six minute walk test,pulmonary function test and modified Rodnan's skin score (mRSS) were also calculated for GER and non-GER groups.x2 test,Fisher's exact test and t-test were used for statistical analysis.Logistic regression test was used for the analysis of risk factors.Results There were 90 patients with GER among 205 patients,the prevalence of GER was 43.9％.The presence of PAH (23.3％ vs 9.6％),Raynaud's phenomenon (98.9％ vs 92.2％ ) and fingertip ulcers (56.7％vs 51.3％) were significantly higher in patients with GER than those without GER.There was no difference in autoantibody profile between GER patients and non-GER patients (P＞0.05).The New York Heart Association (NYHA) functional class of SSc-related GER was worse than patients without GER (P=0.015).Pulmonary function test showed that diffuse capacity (DLCO)％,forced vital capacity (FVC)％,and forced expiratory volume (FEV1)％ were lower and the FVC％/DLCO％ ratio was higher in patients with GER than non-GER (P＜0.05).GER was an independent risk factor of PAH in SSc patients (P=0.047,OR=3.41 ).Conclusion GER frequently occurs in SSc patients,SSc patients presenting with GER should be screened for PAH.Targeting the underlying vascular dysfunction might prevent not only PAH,but also GER in SSc patients.

Qingpeng ointment in the treatment of eczema: a multi-center, randomized, double-blind, placebo controlled study / 中华皮肤科杂志

Objective To evaluate the efficacy and safety of Qingpeng ointment in the treatment of eczema.Methods A multi-center,randomized,double-blind and placebo-controlled clinical trial was conducted.A total of 246 patients with eczema were randomly assigned with a ratio of 2∶1 to the treatment group and control group to topically apply Qingpeng ointment and placebo respectively twice daily for 3 weeks.Total symptom scores were calculated for the patients at the baseline,on week 1,2 and 3 during the treatment according to the individual scores for pruritus,lesions including erythema,papules,papulovesicles or vesicles,desquamation,crusting,infiltration and lichenification.The occurrence of adverse events was recorded.Results Totally,228 patients completed the trial,including 154 patients in the treatment group and 74 patients in the control group.After 3 weeks of treatment,a statistical difference was observed in the response rate (85.71％ vs.41.89％,Z=47.16,P＜ 0.01) and cure rate (31.82％ vs.12.16％,Z=12.30,P＜ 0.01) between the treatment and control group.There was no significant difference in the incidence of adverse events between the two groups (2.48％ vs.2.56％,x2 =0,P ＞ 0.05).Conclusion Qingpeng ointment displays a promising efficacy for the treatment of mild to moderate eczema with a rapid onset and high safety.

Relationship between serum antinuclear antibodies and clinical manifestations in patients with systemic sclerosis / 中华皮肤科杂志

objective To investigate the clinical relevance of antinuclear antibodies (ANA)in patients with systemic sclerosis(SSc).Methods Clinical data were collected from 283 patients with SSc admitted to Peking Union Medical College Hospital(PUMCH)from 1981 to 2009.A retrospective analysis was carried out.Results In the 283 patients,253(89.4%)were female.The mean age at onset was 35.9±12.6 years and mean disease duration 4.3 ±4.5 years.There were 125(44.2%)patients with diffuse SSc(dcSSc) and 158(55.8%)with limited cutaneous SSc(lcSSc).Of all the patients,96.8%were positive for ANA,54.4% for anti-Scl-70 antibodies,6.4%for anticentromere antibodies(ACA),23.7%for anti-ribonucleoprotein(RNP) antibodies,7.1%for anti-Sm antibodies,25.1%for anti-SSA antibodies,7.1%for anti.SSB antibodies,and 1.1%for anti-Jo-1 antibodies.No patients were positive for anti-rRNP antibodies.Only one patient was positive for both anti-Scl-70 antibodies and ACA.The positivity rate of ACA in patients with leSSe was higher thanthat in those with dcSSc(P<0.05).Conclusion The detection of antinuclear antibodies is helpful for the diagnosis,classification,prognosis evaluation and management of SSc.