Objective To identify mutations in the NEMO gene in a family with incontinentia pigmenti.Methods Clinical data were collected from the proband,and peripheral blood samples were obtained from the proband,her parents and 200 healthy controls.Multiplex PCR was performed to detect heterozygous deletion of exons 4-10 of the NEMO gene in the blood samples of the proband and her parents.Then,PCR was performed to amplify exons 2,3-10 of the NEMO gene in all the blood samples,and all exons in the gene coding region and their flanking sequences were subjected to DNA sequencing.DNA was extracted from paraffin-embedded lesional tissue of the proband's father,and PCR was performed to amplify exon 10 of the NEMO gene and its flanking sequence followed by DNA sequencing.Results The deletion of exons 4-10 of the NEMO gene was undetected in the peripheral blood of the proband or her father.Sanger sequencing showed that there was a heterozygous mutation c.1236dupA in exon 10 of the NEMO gene in the peripheral blood of the proband,which led to a mutation in amino acid residues (p.H413fs*7).The c.1236dupA mutation was not found in the peripheral blood of the proband's parents,while a mosaic mutation c.1236dupA was detected in the DNA from lesional tissues of the proband's father.Conclusion The mutation c.1236dupA in the NEMO gene may be the underlying cause of incontinentia pigmenti in the proband and her father.

Chronic refractory wounds have been a challenge for clinical treatment because of their diverse causative factors and complex pathological processes, long healing times, and high treatment costs. The microenvironment of the wound surface includes the external microenvironment of the periwound surface, the internal microenvironment of the wound surface, and subsurface physiological structures. Research on clinical treatment strategies based on the microenvironment of chronic refractory wounds continues to innovate and make progress. Hydrogels have the advantages of high-water content, adjustable performance, good biocompatibility, and similarity to extracellular matrix. The ability of hydrogels to load drugs and their modification to confer excellent tissue adhesion, antibacterial, antioxidant, and modulation of inflammatory factor expression can be used to achieve a multi-factor response and modulation of the physical, chemical, and biological aspects of the trauma microenvironment. Therefore, hydrogels have outstanding advantages and clinical application prospects in the repair of chronic, difficult-to-heal wounds. In this review paper, the characteristics and etiology of chronic refractory wounds were introduced, and the classification of microenvironment-responsive hydrogels for chronic refractory wounds and their application in the repair of refractory wounds were reviewed. Besides, the shortcomings of current hydrogels were discussed, and an outlook was proposed.

Objective To report a case of X-linked ichthyosis complicated by Mal de Meleda,and to identify the gene mutations.Methods Clinical data were collected from the patient,and peripheral blood samples were obtained from the patient,his parents and 100 unrelated healthy people who served as controls.Genomic DNA was extracted from these blood samples,and PCR was performed to amplify all the exons and their flanking sequences of the SLURP-1 and STS genes.All the amplification products were analyzed by agarose gel electrophoresis,and amplification products of the SLURP-1 gene were analyzed by DNA sequencing.Results The patient presented with regularly-arranged polygonal brown or black scales all over the trunk and limbs,erythematous hyperkeratotic lesions on the palms and soles,elbows and knees,inguinal and perianal regions,which extended to the dorsa of the hands and feet.Then,the patient was diagnosed with X-linked ichthyosis complicated by Mal de Meleda.Genetic testing showed complete deletion of the STS gene,and a homozygous mutation (c.286C ＞ T) at position 286 in exon 3 of the SLURP-1 gene,which led to the formation of a premature termination codon at amino acid position 96 (p.R96*).His parents were heterozygous carriers of the mutation (c.286C ＞ T).No mutation was found in the unrelated healthy controls.Conclusion The complete deletion of the STS gene and the homozygous nonsense mutation in the SLURP-1 gene may be the reason for X-linked ichthyosis complicated by Mal de Meleda in the patient.