A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene / 中华皮肤科杂志

Objective:To detect gene mutations in 1 patient with Vohwinkel syndrome who presented with palmoplantar keratoderma, pseudo-ainhum and deafness.Methods:Clinical data were collected from the proband, and a genetic test was performed to identify mutation sites.Results:Clinical manifestations of the proband were consistent with classical Vohwinkel syndrome. The genetic test revealed a heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene, which was not detected in her parents or healthy controls.Conclusion:The heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene was first identified in a patient with classical Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness.

Pustular psoriasis:an update on genetics / 中华皮肤科杂志

Pustular psoriasis is not a rare inflammatory skin disease, and is characterized by sudden onset of generalized erythema and sterile pustules complicated by chills, high fever, neutrophilia and elevated levels of C?reactive protein. Due to frequent recurrence, it greatly impacts the quality of life in patients. Recently, it has been gradually found that IL36RN, CARD14 and AP1S3 mutations are associated with the occurrence of pustular psoriasis, and accordingly some new therapeutic approaches have emerged. This review summarizes recent advances in genetics of pustular psoriasis.

Mutation analysis of the STAT3 gene in a patient with hyper-IgE syndrome / 中华皮肤科杂志

Objective To analyze mutations of the STAT3 gene in a patient with hyper-IgE svudrome (HIES) mainly manifesting as multiple cold abscesses.Methods Clinical data were collected and blood samples were obtained from a 17-year-old male patient with HIES and his parents.Genomic DNA was extracted and subjected to PCR for the amplification of the entire coding region and splice sites of the STAT3 gene followed by bidirectional sequencing.Results A heterozygous missense mutation C1427T,which caused a codon change from TCC to TTC and resulted in the substitution of serine by phenylalanine at amino acid residue 476 (p.S476F), was found in exon 16 encoding the DNA-binding domain in the STAT3 gene in the patient, but not in either of his parents.The results of amplified ribosomal DNA restriction analysis were consistent with the findings mentioned above.Conclusion A novel missense mutation S426F was found in the STAT3 gene in the HIES patient with generalized cold abscesses as the prominent clinical manifestation.

Bacterial culture of vaginal discharge and their resistance to antibiotics / 中国医师进修杂志

Objective To investigate the distribution of pathogenic bacteria of vaginal discharge in bacterial vaginosis.Methods The results of bacterial culture and drug sensitive tests of vaginal discharge from patients with bacterial vaginosis were analyzed.Results The positive rate of bacteria culture of vaginal discharge was 79.3%(115/145).The dominant bacteria were staphylococcus epidermidis 27.0%(31/115),staphylococcus intermedius and staphylococcus aureus 13.0%(15/115),which were obviously higher than other germs.The drug sensitive tests showed that staphylococcus were relatively sensitive to vancomycin,fosfomycin,amikacin and rifampin.But the drug resistance to penicillin,tetracycline,erythromycin and oxacillin was the highest.Conclusion The kinds of pathogenic bacteria in vaginal discharge are various.The main bacterium is staphylococcus,and drug resistance is very severe.The isolation and drug sensitive test of pathogenic bacteria play an important role in diagnosis and treatment of gynecological disease.