A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.

Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and cutaneous cysts. And fissured tongue is rarely reported in patients with pachyonychia congenita. The disease is primarily associated with mutations in five keratin genes, namely KRT6A, KRT6B, KRT6C, KRT16 or KRT17. Herein we report a 9-year-old Chinese girl who has thickened nails, keratinized plaques, and fissured tongue since birth. To investigate the underlying genetic cause, whole-exome sequencing and Sanger sequencing were performed in this patient and her family members. We identified a candidate variant c.1460-2_1460del (p.S487Lfs*21) in the KRT6A gene (NM_005554.4) by whole-exome sequencing. Sanger sequencing revealed the absence of the mutation in both parents, indicating that it is a de novo variant. Thus, the novel heterozygous frameshift mutation c.1460-2_1460del (p.S487Lfs*21) within exon 9 of KRT6A was identified as the genetic cause of the patient. Our study identified a rare de novo heterozygous frameshift mutation in the KRT6A gene in a patient with pachyonychia congenita presenting fissured tongue. Our findings expand the KRT6A gene mutation spectrum of Pachyonychia congenita, and will contribute to the future genetic counseling and gene therapy for this disease.

Successful surgical treatment of polybacterial gas gangrene confirmed by metagenomic next-generation sequencing detection: A case report.

BACKGROUND: We report on a case of Vibrio vulnificus (V. vulnificus) detected by metagenomics next-generation sequencing (mNGS) in a 53-year-old male patient with polymicrobial gas gangrene and successful treatment by surgery. This report raises awareness among dermatologists that when a patient is clinically suspected of a special type of pathogenic infection, the mNGS method should be preferred to identify the patient's pathogen infection as soon as possible and then take effective treatment in time to save patients' lives. CASE SUMMARY: A 53-year-old male who worked in the aquatic market complained of redness and swelling of the lower limbs, blisters and ulcers with fever for 3 d. We used mNGS to test the pathogens in ulcer secretions. The results were returned in 24 h and indicated: V. vulnificus, Fusobacterium necrophorum, Staphylococcus haemolyticus, Staphylococcus aureus, Streptococcus dysgalactiae and Klebsiella aerogenes. This patient was diagnosed with V. vulnificus infection. The emergency operation was performed immediately under combined lumbar and epidural anesthesia: Left leg expansion and exploration (August 10, 2021). After surgery, we continued to use piperacillin sodium tazobactam sodium 4.5 g every 8 h and levofloxacin 0.5 g for anti-infection treatment. The patient underwent further surgery under lumbar anesthesia on August 17, 2021 and August 31, 2021: Left leg deactivation and skin grafting, negative pressure closed drainage and right thigh skin removal. After treatment, the transplanted flap survived. CONCLUSION: We could confirm the diagnosis of Vibrio vulnificus infection within 24 h through mNGS detection and then immediately performed emergency surgery.

[Changes and significance of P-selectin and PAC-1 in coronary heart disease before and after stenting].

OBJECTIVE: To explore the platelet activation status before and after coronary artery stent implantation at different timepoints. METHODS: The contents of CD62P (soluble P-selectin) and PAC-1 (platelet glycoprotein GPIIb/IIIa fibrinogen receptor) in patients after coronary stent implantation were detected by flow cytometry (FCM) before, immediately after surgery, postoperative 2, 4, 6 and 24 h in peripheral blood. RESULTS: In 65 cases, the levels of CD62P[40.63(25.14-51.01)%] and PAC-1[36.59(20.37-48.41)%] immediately after surgery were significantly higher than their preoperative values [14.79 (9.85-26.66) %, 13.99(11.42-30.133)%] (P < 0.05). And the postoperative levels of 2 h [8.64(4.48-15.67)%, 12.64(6.45-18.83)%], 4 h [7.91(4.56-12.94)%, 12.81(6.89-18.66)%], 6 h [6.53(4.12-9.27)%, 9.43(5.27-15.65)%] and 24 h [6.28(4.36-9.63)%, 10.38(4.63-18.11)%] decreased significantly versus their preoperative values (P < 0.05). CONCLUSION: Stenting of coronary endothelial damage within 2h may enhance platelet activation and boost the risk of thrombosis.

In vitro cytotoxicity of a novel injectable and biodegradable alveolar bone substitute.

The unsaturated polyphosphoester (UPPE) polymer is being investigated as an injectable and biodegradable system for alveolar bone repair in the treatment of periodontal diseases. The incorporation of beta-tricalcium phosphate (beta-TCP) particles into the UPPE polymer was previously shown to significantly increase the material's mechanical properties. Moreover, in vitro experiments demonstrated that the UPPE/beta-TCP composite was capable of zero-order release of tetracycline for over 2 weeks. In this study, we investigated the in vitro cytotoxicity of each individual component, the resulting cross-linked network and the degradation products of the UPPE/beta-TCP composite using an AlamarBlue viability assay. We confirmed that each individual component except beta-TCP and the in vitro degradation products of the composite displayed a dose-dependent cytotoxic response. Once cross-linked, however, the composite did not demonstrate an adverse response. Our results suggest that the UPPE/beta-TCP composite holds great promise for use as an injectable and biodegradable alveolar bone substitute.