Rare subtypes of epidermolysis bullosa: three case reports and their pedigree analysis / 中华皮肤科杂志

Objective:To report 3 cases of rare subtypes of hereditary epidermolysis bullosa.Methods:Clinical data were collected from the probands and their relatives, whole-exome sequencing was performed to screen disease-causing mutations in the probands, and Sanger sequencing or qPCR was conducted to verify the mutations in patients and their relatives.Results:Case 1 mainly presented with linear red scars on the back, and the proband, her mother with similar clinical manifestations and her asymptomatic daughter all carried a mutation c.4573G>A (p.Gly1525Arg) in the COL7A1 gene. Case 2 presented with generalized reticular pigmentation all over the body and occasional blisters restricted to the hand and foot, and carried a de novo mutation c.74C>T (p.Pro25Leu) in the KRT5 gene. Case 3 presented with pigmentation abnormalities mainly located at the sun-exposed sites and incomplete syndactyly of the left hand, and carried homozygous deletion mutations in exons 2-6 of the FERMT1 gene, which were inherited from her asymptomatic parents. Case 1 was diagnosed with dominant dystrophic epidermolysis bullosa pruriginosa, case 2 was diagnosed with epidermolysis bullosa simplex with mottled pigmentation, and case 3 was diagnosed with Kindler epidermolysis bullosa. Conclusion:The clinical manifestations of epidermolysis bullosa vary greatly, and gene detection is very important for confirmation of diagnosis of its rare types.

Clinical efficacy of combination therapy with Butylphthalide and fibrinolytic enzyme for acute cerebral infarction / 中华老年医学杂志

Objective To evaluate the clinical efficacy of Butylphthalide combined with fibrinolytic enzyme in the treatment of acute cerebral infarction. Methods A total of 60 elderly patients with acute cerebral infarction who had missed the opportunity of thrombolytic therapy were enrolled in this study from January 2014 to December 2016 at Zhengzhou University Second Affiliated Hospital.Patients were randomly divided into an observation group(n= 30)and a control group(n= 30).Patients in the control group were treated with fibrinolytic enzyme alone,and those in the observation group received Butylphthalide combined with fibrinolytic enzyme.Peak flow velocity and mean flow velocity of the middle cerebral artery were analyzed and compared between the two groups before and after treatment.Data on clinical safety,efficacy,the national institutes of health stroke scale(NIHSS)and the Barthel score were also compared between the two groups. Results After treatment,the peak velocity 〔(74.60 ± 4.31)cm/s vs.(69.19 ± 3.36)cm/s〕 and average velocity 〔(38.71 ± 2.29)cm/s vs.(34.01 ± 2.01)cm/s〕 of the middle cerebral artery were significantly increased in the treatment group compared with those in the observation group (both P< 0.05).Meanwhile,the clinical efficacy was significantly higher in the observation group (96.7% vs.73.3%,P< 0.05).Moreover,NIHSS scores 〔(5.91 ± 3.51)vs.(8.31 ± 3.09)〕and Barthel scores 〔(71.29 ± 3.81)vs.(53.60 ± 4.33)〕 were significantly improved in the treatment group compared with those in the observation group(both P< 0.05).In addition,there were no obvious adverse reactions during treatment in the two groups. Conclusions Butylphthalide combined with plasmin can safely and effectively improve cerebral hemodynamics and prognosis in patients with acute cerebral infarction.

Analysis of Medication Principles of Professor Liu Fengbin for Treatment of Irritable Bowel Syndrome / 广州中医药大学学报

In this study,we collected the prescriptions of Professor Liu Fengbin used for the out-patients with irritable bowel syndrome(IBS),counted the usage frequency of the herbs and core-combination herbs in the prescriptions,analyzed the medication principles of Professor Liu Fengbin,and mined the new recipes for IBS by the methods of association rule mining and complex system entropy clustering presented in the Traditional Chinese Medicine Inheritance Support System.The results showed that Professor Liu is experienced in treating IBS based on liver-spleen differentiation,mainly applying the therapies of invigorating spleen and replenishing qi,soothing liver and regulating qi,also using the methods of resolving dampness,alleviating depression,relieving pain and activating blood,and prescribing the basic recipe of Chai Shao Sijunzi Decoction.The medication principles of Professor Liu Fengbin for the treatment of IBS will be beneficial to the further exploration of the syndrome pattern distribution of IBS and new recipes for IBS.

Screening and identification of aptamers against the recombinant transpeptidase domain of PBP 2a / 重庆医学

Objective To screen and identify the aptamers of the recombinant transpeptidase domain of PBP2a(penicillin binding protein 2a ,PBP2a) .Methods By using the recombinant transpeptidase domain of PBP2a as the screening target ,oligonucle-otides which were capable of specifically binding to the protein were screened by a random oligonucleotide library through the stem -atic evolution of ligand by exponential enrichment (SELEX )technique .The ssDNA was cloned and sequenced ,and the secondary structure of aptamer clones was predicted with mfold program .Results After 11 cycles of the selection ,the aptamers which were capable of binding to PBP2a with high affinity have been selected .40 clones from the 8 and 10 cycles were selected randomly and se-quenced .The aptamers obtained had no obvious homology according to their sequences by the sequence alignments ,and the 40 aptamers were classified to three groups according to their secondary structures .The aptamer 13 was found to be specific for the target protein with the highest affinity .Conclusion Aptamers for the recombinant transpeptidase domain of PBP2a with high affili-ty and specificity were successfully screened by SELEX ,which lays a foundation for exploring new ways of diagnosis and treatment of MRSA infection .

Pathogen profile of bloodstream infections in low birth weight preterm infants:a report of 95 cases / 中国感染与化疗杂志

Objective To study the etiology and antibiotic resistance of bloodstream infections in low birth weight preterm infants .Methods A total of 95 cases of bloodstream infections in low birth weight preterm infants were treated in our hospital from January 2011 to April 2014 .The clinical data of these patients were analyzed retrospectively .Results A total of 96 pathogens were isolated ,including 57 strains of gram‐negative bacilli ,38 strains of gram‐positive cocci ,and 1 strains of Trichosporon asahii .The most frequently isolated pathogens were Klebsiella pneumoniae (40 strains)and coagulase‐negative Staphylococcus(31 strains).All gram‐negative bacilli were sensitive to carbapenems such as imipenem and panipenem . Streptococcus isolates were sensitive to most antibiotics .Most Staphylococcus isolates were methicillin‐resistant ,which were highly resistant to common antibiotics but all sensitive to linezolid , vancomycin and teicoplanin . Conclusions The most important pathogens responsible for bloodstream infections in low birth weight preterm infants in our hospital are K lebsiella pneumoniae and coagulase‐negative Staphylococcus . Early identification of responsible pathogen and rational antimicrobial therapy are critical for good prognosis of bloodstream infections in low birth weight preterm infants .