简介：AbstractSkin diseases were characterized by various types and high incidence, which seriously affect people’s health. At present, skin pathogenesis research and the therapeutic drug development for skin diseases are limited by the lack of reasonable research models that recapitulate the development of skin diseases. Organoids are three-dimensionally cultured cell populations derived from skin stem cells, which exhibits the ability of multicell assembly and the similar histological characteristics with the living tissues and organs. This article reviews the establishment of normal skin organoids and skin tumor organoids, and summarizes the application of skin organoids in the evaluation of drug sensitivity, pathological mechanism research, and individualized treatment. In addition, the advantages and limitations of organoids in skin disease research are also discussed, which provides a basis for revealing the pathogenesis of skin diseases and developing preventive and therapeutic drugs for skin diseases.

简介：AbstractIntroduction:Primary systemic amyloidosis is characterized by clonal plasma cell disorder, and its signs and symptoms are various and complex, damage to the skin and mucous membrane is often more likely to attract attention.Here we reported a case of a 61-year-old male patient who presented with topical mucocutaneous lesion, as well unusual skin vegetations.Case presentation:A 61-year-old man was hospitalized due to repeated burning sensation on his back, multiple ecchymosis, and skin vegetations. Through a series of examinations (mainly including skin histopathology, bone marrow cytology, bone marrow flow cytometry, immunofixation electrophoresis), Primary systemic amyloidosis was diagnosed, but multiple myeloma could not be diagnosed. Subsequently, he received chemotherapy. In the half-year follow-up, there was no significant change in his symptoms and signs.Discussion:In this case, in addition to the typical skin damage of primary amyloidosis, the multiple skin vegetations in the buttocks, abdomen, and arms are particularly noteworthy. According to the histopathology and Immunohistochemistry of the skin vegetation, we infer that the formation mechanism of these skin vegetation is lymphatic obstruction caused by amyloid, which leads to lymphatic dilatation, lymph leakage, and dermal edema.Conclusion:Primary systemic amyloidosis is a rare disease, which is often difficult to diagnose. We should be alert to those atypical skin features so as not to delay diagnosis.

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简介：AbstractArtificial intelligence (AI) has proven time and time again to be a game-changer innovation in every walk of life, including medicine. Introduced by Dr. Gunn in 1976 to accurately diagnose acute abdominal pain and list potential differentials, AI has since come a long way. In particular, AI has been aiding in radiological diagnoses with good sensitivity and specificity by using machine learning algorithms. With the coronavirus disease 2019 pandemic, AI has proven to be more than just a tool to facilitate healthcare workers in decision making and limiting physician-patient contact during the pandemic. It has guided governments and key policymakers in formulating and implementing laws, such as lockdowns and travel restrictions, to curb the spread of this viral disease. This has been made possible by the use of social media to map severe acute respiratory syndrome coronavirus 2 hotspots, laying the basis of the "smart lockdown" strategy that has been adopted globally. However, these benefits might be accompanied with concerns regarding privacy and unconsented surveillance, necessitating authorities to develop sincere and ethical government–public relations.

简介：AbstractIntroduction:The gap junction beta 6 (GJB6) gene encodes connexin 30. This protein plays critical role in tissues and is responsible for the formation of gap junctions, which have a wide variety of physiological functions. Disease-associated variants of GJB6 cause non-syndromic hearing loss (HL) and skin lesions.We herein describe a Turkish girl who was diagnosed with HL and in whom genetic analysis revealed a causal variant of GJB6.Case presentation:The 1-year-old girl patient was diagnosed with bilateral HL when she was 1 month old. Apart from this, the patient’s motor/mental development and physical examination were normal. As a result of the analysis with the multi-gene panel, the causative genomic change, c.175G>A(p.Gly59Arg) in the GJB6 gene was determined as heterozygous. Segregation analysis proved the same genotype in the patient’s mother and grandfather. The patient’s mother and grandfather had bilateral HL and palmoplantar hyperkeratosis phenotype. The patient was diagnosed with Clouston syndrome, and genetic counseling was provided to her family.Discussion:Causal variants of GJB6 cause skin manifestations and signs of HL. Molecular diagnosis of these patients is a valuable tool for clinicians in reaching their optimal treatment and clinical management.Conclusion:In syndromic cases in which many organs are affected, the determination of the causative gene is important in directing the patients to appropriate observation, screening, and treatment strategies.

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简介：AbstractBackground:As a non-invasive and effective diagnostic method for small intestinal bacterial overgrowth (SIBO), wild-use of breath test (BT) has demonstrated a high comorbidity rate in patients with diarrhea-predominant irritable bowel syndrome (IBS-D) and SIBO. Patients overlapping with SIBO respond better to rifaximin therapy than those with IBS-D only. Gut microbiota plays a critical role in both of these two diseases. We aimed to determine the microbial difference between IBS-D overlapping with/without SIBO, and to study the underlying mechanism of its sensitivity to rifaximin.Methods:Patients with IBS-D were categorized as BT-negative (IBSN) and BT-positive (IBSP). Healthy volunteers (BT-negative) were enrolled as healthy control. The patients were clinically evaluated before and after rifaximin treatment (0.4 g bid, 4 weeks). Blood, intestine, and stool samples were collected for cytokine assessment and gut microbial analyses.Results:Clinical complaints and microbial abundance were significantly higher in IBSP than in IBSN. In contrast, severe systemic inflammation and more active bacterial invasion function that were associated with enrichment of opportunistic pathogens were seen in IBSN. The symptoms of IBSP patients were relieved in different degrees after therapy, but the symptoms of IBSN rarely changed. We also found that the presence of IBSN-enriched genera (Enterobacter and Enterococcus) are unaffected by rifaximin therapy.Conclusions:IBS-D patients overlapping with SIBO showed noticeably different fecal microbial composition and function compared with IBS-D only. The better response to rifaximin in those comorbid patients might associate with their different gut microbiota, which suggests that BT is necessary before IBS-D diagnosis and use of rifaximin.Registration:Chinese Clinical Trial Registry, ChiCTR1800017911.

简介：AbstractBackground:So far, there is a paucity of real-world data on the syphilis serological responses to the first-line treatment during pregnancy, and there is no relevant study on the necessity of anti-syphilis treatment during pregnancy for those patients who have been treated for syphilis before pregnancy for the prevention of mother-to-child transmission, which might provide valuable insight into treatment effectiveness and optimal management of pregnant women with syphilis.Methods:A retrospective study on 10 years of real-world data was performed for accumulative 410 Chinese pregnant women with syphilis. The descriptive statistics were conducted in the study, and toluidine red unheated serum test (TRUST) titer responses to penicillin treatment in syphilis-infected pregnant women, and the associations with congenital syphilis were investigated. We divided the patients into two groups according to the history of anti-syphilis treatment before pregnancy (patients diagnosed with syphilis who had received anti-syphilis treatment before pregnancy, and patients screened and diagnosed with syphilis during pregnancy who had no previous history of anti-syphilis treatment).Results:The rate of congenital syphilis in this study was 6.2% (25/406). There was no significant difference in the rate of congenital syphilis between patients who received anti-syphilis treatment before pregnancy and those who did not. Secondary syphilis and high baseline serum TRUST titer (≥1:8) in pregnant women were independent risk factors for congenital syphilis.Conclusions:For the prevention of congenital syphilis, anti-syphilis treatment during pregnancy for syphilis seropositive pregnant women is needed, regardless of whether the patient has received anti-syphilis treatment before pregnancy, especially for those patients with secondary syphilis or high baseline serum TRUST titer, thus, timely surveillance, early diagnosis to timely treatment, and close syphilis reexamination during posttreatment follow-up, may help to reduce the above-mentioned risk factors for congenital syphilis.

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