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<b><i>Background/Objective:</i></b> Hair cycle is regulated by many biological factors. Cathepsins are involved in various physiological processes in human skin. Here, we investigated the cathepsin expression and distribution changes in follicular growth cycles for better understanding the hair cycles and to explore new intervention measures. <b><i>Methods:</i></b> The 24 mice (C57BL/6, female, 7-week old) were selected and removed the back hair via rosin/paraffin method. At Day 8, Day 20, and Day 25, biopsy on post-plucking area was done. Immunohistochemical staining, Western blot, and Q-PCR were used to test the cathepsin B/D/L/E. <b><i>Results:</i></b> In anagen, cathepsins (B, D, L, and E) were distributed in the hair follicle matrix, inner hair root sheath, and hair. In catagen, cathepsins were mainly observed in un-apoptosis inner root sheath and outer root sheath. Expression of cathepsins B-mRNA and L-mRNA was decreased from anagen and catagen to telogen. Cathepsin D-mRNA was increased in catagen and then decreased in telogen. Cathepsin E-mRNA was decreased in catagen and slightly increased in telogen. <b><i>Conclusions:</i></b> The distribution and expression of cathepsins B, D, L, and E in hair follicle changed with hair growth process which indicated that cathepsins might act as selectable biomarkers of hair cycle in different stages.

Background Oral isotretinoin is the first‐line treatment of severe nodular acne. However, patients presenting ineffective or poor effective to oral isotretinoin are still a clinical problem, and its molecular genetic mechanisms remain unclear. Aims To compare the transcriptome profiles of isotretinoin‐effective and isotretinoin‐ineffective severe acne vulgaris patients and analyze the potential physiological roles to better understand the mechanisms of isotretinoin efficacy differences. Patients/Methods Peripheral blood of 43 patients with severe acne was collected before treatment. After 8‐week isotretinoin, patients presented effective and ineffective to isotretinoin treatment were selected and their pretreatment peripheral blood was analyzed. High‐throughput sequencing was used to detect gene expression profiles. Gene Ontology and KEGG were used to perform functional annotation and pathway enrichment analysis. Results Ten acne patients (3 male and 7 female, age 31 ± 9.2) presented effectiveness by oral isotretinoin and 10 acne patients (4 male and 6 female, age 28 ± 7.7) presented ineffectiveness were included. Comparison of gene profiles of isotretinoin‐effective and isotretinoin‐ineffective patients revealed 2779 differentially expressed genes: 2723 upregulated and 56 downregulated. Differentially expressed genes were enriched in RNA degradation pathway, autophagy pathway, protein ubiquitination pathway, protein processing in endoplasmic reticulum pathway, T‐cell receptor signaling pathway, spliceosome pathway, mRNA surveillance pathway, cell cycle pathway, long‐term potentiation pathway, and FoxO signaling pathway. Conclusion Transcriptome expression differences not only participated in the acne pathogenesis, but also influenced the isotretinoin therapeutic effects. These findings might provide some evidence for exploring individualized therapy for acne patients.

Gene expression changes associate with many biological processes. However, the relative consequences of the genetic alterations induced by ultraviolet (UV)-A radiation on skin photoaging are still not clear. Here, we performed deep sequencing of the transcriptome and explored altered genes related to biological changes in repeated UV-A-irradiated human dermal fibroblasts (HDF) to better understand the skin photoaging mechanisms. The repeatedly UV-A-irradiated group (HDF were induced by 10 J/cm UV-A twice daily for 7 days) and the control group (HDF without irradiation) were evaluated. Expression genes profile was measured and compared using high-throughput sequencing on an Illumina HiSeq 2500 platform and DEGseq. Functional annotation and metabolic pathway analysis of genes with altered expression were preformed via National Center for Biotechnology Information, Uniprot, Gene Ontology and Kyoto Encyclopedia of Genes and Genomes databases. Genes related to skin photoaging were verified by quantitative reverse transcription polymerase chain reaction. Transcriptome comparison revealed that 607 genes exhibited significant changes (P < 0.05), of which 238 genes were upregulated and 369 downregulated in UV-A-irradiated HDF. Functional annotations showed that genes altered by UV-A irradiation took part in a variety of biological process, cellular component synthesis, molecular function and metabolic pathway. Photoaging-related genes encoding elastin, sprout, cathepsin K, cathepsin D, cathepsin B ribose-phosphate diphosphokinase and phosphoglucomutase were identified to be changed. We obtained the comprehensive transcriptome and altered genes in repeated UV-A-irritated HDF and identified that the modulated genes were related to a wide panel of pathways and functions. Our results provide new insights into photoaging molecular mechanisms and suggest some novel targets for interfering in skin photoaging.

Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome as the initial manifestation. The patient was admitted to The Second Xiangya Hospital of Central South University due to polydipsia, polyuria, and weakness of both lower limbs at 2 years of age. Laboratory tests showed that serum sodium, potassium and chlorine levels were low, while serum creatinine levels were normal. The calcium level in the urine was normal. The patient was initially diagnosed with Bartter syndrome, and despite medical interventions, he eventually developed chronic kidney disease stage 4 at 13 years of age. To determine the cause, the patient was recommended to undergo genetic testing, which showed a CLCN5 gene c. 941C &gt; T mutation (p.S314L), and was finally diagnosed as Dent disease 1. The clinical manifestations of Dent disease are complex and diverse. For patients with atypical clinical manifestations or unsatisfactory therapeutic effects, genetic testing is recommended.