Objective:To identify pathogenic genes in 3 cases of piebaldism, and to explore the genotype-phenotype relationships in piebaldism.Methods:Clinical data were collected from 3 patients with piebaldism and their parents at the Department of Dermatology, Henan Provincial People′s Hospital from January 2019 to December 2021. Peripheral blood samples were obtained from them and 100 unrelated healthy controls, and DNA was extracted. Whole-exome sequencing technology was used to screen genetic variation sites, and then Sanger sequencing was performed for verification. The deleteriousness of genetic variants was evaluated by using pathogenicity analysis software tools.Results:Case 1: a 23-year-old male patient presented with white patches on the forehead, chest, and abdomen for 23 years, and his parents had no similar symptoms; case 2: a 1-year- and 5-month-old male infant presented with white patches on the forehead and abdomen for 1 year, and his parents had no similar symptoms; case 3: a 6-year-old male child presented with white patches on the forehead and limbs for 6 years, and his parents had no similar clinical manifestations. Genetic testing showed that a missense mutation c.2033T>C (p.L678P) in exon 14 of the KIT gene, a splice site mutation c.2485-1G>C in exon 18 of the KIT gene, and a heterozygous missense mutation c.2346C>G (p.F782L) in exon 16 of the KIT gene were identified in the case 1, 2, 3 respectively, but no above mutations were identified in the patients′ parents or 100 unrelated healthy controls. The 3 genetic variants were all novel pathogenic mutations, and all were deleterious mutations.Conclusions:Three novel pathogenic mutations in the KIT gene were identified in the 3 cases of piebaldism, namely c.2033T>C (p.L678P), c.2485-1G>C, and c.2346C>G (p.F782L). It was further verified that the severity of piebaldism was closely related to the type and location of KIT gene mutations.

Pregnancy with autoimmune diseases is a challenging area that involves multidisciplinary management of immunology, rheumatology, and obstetrics. During pregnancy, the maternal immune system dynamically regulates the balance between maintaining immune tolerance to the fetus and autoimmune. However, for women with common systemic autoimmune diseases such as systemic lupus erythematosus, antiphospholipid syndrome, and rheumatoid arthritis, this balance can be upset, leading to exacerbation or recurrence of the disease and significantly increasing the risk of pregnancy complications. This paper describes the adaptive changes of the immune system during pregnancy and the effects of systemic autoimmune diseases on pregnancy outcomes, proposes multidisciplinary management strategies and challenges in perinatal pregnancy, and aims to provide references for optimizing clinical practice and improving pregnancy outcomes.

A 1-year and 9-month-old male proband presented with clustered rice grain-sized flat smooth red papules on the face, trunk and limbs for 1.5 years, without fever, joint swelling, or pain. The proband′s sister aged 7 years ever experienced swelling and pain in the finger joints of both hands at the age of 2 years, and had intermittent fever and papules all over the body at the same time, and the papules gradually regressed with the subsidence of fever. The proband′s mother aged 27 years suffered from swelling and pain in the finger joints of both hands when she was young, gradually leading to finger deformities, and experienced intermittent knee swelling and pain at the age of 12 years without obvious skin lesions on the body. No abnormality was found in ophthalmological and systemic physical examinations of the 3 patients. Whole-exome sequencing showed that the proband, his sister and mother all had a heterozygous missense mutation c.1001G>A (p.R334Q) in exon 4 of the NOD2 gene. A diagnosis of Blau syndrome was made. The proband was treated with topical moisturizing cream all over the body; during the 52-week follow-up, no joint swelling and pain or eye symptoms were found in the proband, while erythema and depressed scars were observed on the face, trunk and limbs. The proband′s sister and mother were treated with subcutaneous injections of adalimumab at initial doses of 40 mg and 80 mg respectively, followed 1 week later by injections at 20 mg and 40 mg respectively, and then treated with injections at 20 mg and 40 mg respectively every 2 weeks; after 12-week treatment, the joint swelling and pain were markedly relieved in the proband′s sister and mother, and most skin lesions subsided in the proband′s sister; at week 52 during the follow-up, there was no joint swelling, pain or skin lesions in the proband′s sister, and there was no swelling or pain in the knee joints of the proband′s mother, while no improvement was observed in her finger deformities. During the treatment, no eye symptoms or adverse reactions were observed neither in the proband′s sister nor in his mother.

Objective To investigate the syndrome differentiation characteristics of children with atopic dermatitis(AD)and the immune imbalance status in children with different syndrome types of AD.Methods A total of 159 AD children and 100 normal control children were enrolled.The peripheral blood eosinophil(Eo)count was measured by impedance method,total serum immunoglobulin E(IgE)by immunoturbidimetric assay,and interferon-gamma(IFN-γ),interleukin-4(IL-4),interleukin-5(IL-5)and interleukin-17(IL-17)were measured by multiple microspheres flow immunofluorescence assay.Results Among 159 AD children,syndrome of heart-fire and spleen-deficiency was most commom,accounting for 38.4%,followed by syndrome of blood-deficiency and wind-dryness(22.0%),syndrome of heat accumulation in heart and spleen(20.1%)and syndrome of spleen-deficiency and dampness-accumulation(19.5%).Compared with normal control group,there was no significant difference in serum IFN-γ level among different syndrome types of AD.The levels of peripheral blood Eo,serum total IgE,IL-4 and IL-17 in AD with heart-fire and spleen-deficiency syndrome were significantly increased(P<0.05).The levels of peripheral blood Eo,IL-4,IL-5 and IL-17 in AD with blood-deficiency and wind-dryness syndrome were significantly increased(P<0.05).The levels of IL-4,IL-5 and IL-17 in AD with heat accumulation in heart and spleen syndrome were significantly increased(P<0.05).The levels of peripheral blood Eo and serum IL-4 in AD with spleen-deficiency and dampness-accumulation syndrome were significantly increased(P<0.05).Conclusion Heart-fire and spleen-deficiency syndrome is the most common type in children with AD,however,the main type under 3 years old is heat accumulation in heart and spleen syndrome.Th2/Th17 immune imbalance are the main pathogenesis in heart-fire and spleen-deficiency syndrome,blood-deficiency and wind-dryness syndrome and heat accumulation in heart and spleen syndrome,and Th2 immune imbalance is the main pathogenesis of spleen-deficiency and dampness-accumulation syndrome.

Background::Urticaria is a common skin disease characterized by episodes of wheals, and it has a negative effect on patients’ quality of life. Large-scale population-based epidemiological studies of urticaria are scarce in China. The aim of this survey was to determine the prevalence, clinical forms, and risk factors of urticaria in the Chinese population.Methods::This survey was conducted in 35 cities from 31 provinces, autonomous regions, and municipalities of China. Two to three communities in each city were selected in this investigation. Participants completed questionnaires and received dermatological examinations. We analyzed the prevalence, clinical forms, and risk factors of urticaria.Results::In total, 44,875 questionnaires were distributed and 41,041 valid questionnaires were collected (17,563 male and 23,478 female participants). The lifetime prevalence of urticaria was 7.30%, with 8.26% in female and 6.34% in male individuals ( P < 0.05). The point prevalence of urticaria was 0.75%, with 0.79% in female and 0.71% in male individuals ( P < 0.05). Concomitant angioedema was found in 6.16% of patients. Adults had a higher prevalence of urticaria than adolescents and children. Living in urban areas, exposure to pollutants, an anxious or depressed psychological status, a personal and family history of allergy, thyroid diseases, and Helicobacter pylori infection were associated with a higher prevalence of urticaria. Smoking was correlated with a reduced risk of urticaria. Conclusion::This study demonstrated that the lifetime prevalence of urticaria was 7.30% and the point prevalence was 0.75% in the Chinese population; women had a higher prevalence of urticaria than men. Various factors were correlated with urticaria.

With the continuous elucidation of the molecular mechanism of primordial follicle activation, clinical in vitro activation (IVA) has gradually become a clinical treatment for premature ovarian insufficiency (POI) and reduced ovarian reserve (DOR). This article will review the mechanism of phosphatase and tensin homolog (PTEN)/phosphatidylinositol-3-kinase (PI3K), hippo signal and mammalian target of rapamycin complex 1 (mTORC1) signal involved in the activation of primordial follicles, and the application of IVA in patients with POI and DOR.

Objective:To establish a safe, effective, simple, and more economically feasible method to obtain platelet-rich plasma (PRP).Methods:Whole blood was collected from 24 patients with atrophic acne scars on the face. For the preparation of PRP, a slight modification of Choukroun＇s method was used. Enzyme-linked immunosorbent assay (ELISA) was used to measure the levels of platelet derived growth factor-β(PDGF-β), transforming growth factor-β1 (TGF-β1), epidermal growth factor (EGF), vascular endothelial growth factor (VEGF), basic fibroblast growth factor (bFGF), isulin-like growth factor-1 (IGF-1) in normal plasma and PRP.Results:The average concentration of PDGF-β in PRP was (755.61±418.31) ng/L, which was higher than [(479.93±279.18) ng/L] in normal plasma ( t=3.479, P<0.01). The average concentration of TGF-β1 in PRP was (2267.00±1223.68), which was higher than [(1535.50±910.91) ng/L] in normal plasma ( t=7.082, P<0.01). The average concentration of EGF in PRP was (30.70±12.39) ng/L, which was higher than [(20.77±10.31) ng/L] in normal plasma ( t=6.899, P<0.01). The average concentration of VEGF in PRP was (25.42±17.69) ng/L, which was higher than [(12.01±7.77) ng/L] in normal plasma ( t=5.230, P<0.01). The average concentration of bFGF was (17.85±7.17) ng/L, which was higher than [(10.90±4.73) ng/L] in normal plasma ( t=6.050, P<0.01). The average concentration of IGF-1 was (201.22±36.80) ng/ml, which was higher than [(174.90±33.80) ng/ml] in normal plasma ( t=3.760, P<0.01). Conclusions:Compared to normal plasma, modified PRP contains higher levels of growth factors. The modified method is a reliable option for liquid PRP, especially applicable for invasive cosmetic laser surgery to promote wound repair.

Objective To investigate sun protection behavior among middle-aged and elderly women in Beijing.Methods The central (Xuanwumen district) and peripheral areas (Yanqing district) of Beijing city were selected for investigation from May to June in 2016.By random sampling and field investigation,interviewees completed questionnaires with the help of dermatologists.Results A total of 400 females aged 40-90 years were investigated,including 190 in the Xuanwumen district and 210 in the Yanqing district.Among all the subjects,the average duration of outdoor activities was 2 hours.Moreover,117 (29.2％) of the 400 interviewees had the active sun exposure habit,including 38 (18.1％) in the Yanqing district and 79 (41.6％) in the Xuanwumen district,and the proportion of subjects with the active sun exposure habit significantly differed between the two districts (x2 =26.582,P ＜ 0.001).In addition,67 (16.8％) interviewees had a sunburn history,and 130 (32.5％) were used to applying sunscreen.The proportion of sunscreen users was significantly higher in moderately or highly educated women (103 [45.2％]) than in lowly educated women (28/172 [16.3％],P ＜ 0.001).The proportion of sunscreen users in women with skin type Ⅲ (41.2％ [70/170]) was significantly higher than that in those with skin type Ⅳ (26.5％ [61/230],P =0.002).The scores for facial skin aging and dorsal hand skin aging were both significantly lower in sunscreen users than in non-users (Z =18.536,10.731,P =0.002,0.026,respectively).Conclusion The active sun exposure habit in the middle-aged and elderly women differs between the central and peripheral areas of Beijing,and the use of sunscreen is associated with education level.

Objective The aim of this study was to evaluate the number of Treg cells in preeclamp-sia (PE) patients, to explore the expression levels of microRNA-210 (microRNA-210) and forkhead box p3 (Foxp3) genes in preeclampsia, and to reveal the regulatory mechanism of microRNA-210 and Foxp3 in preeclampsia. Methods Serum levels of cytokines [ interleukin ( IL)-6, IL-10, IL-17, and transforming growth factor-beta 1 (TGF-β1)] were detected with enzyme-linked immunosorbent assay (ELISA). 29 pa-tients with late-onset preeclampsia (≥36 weeks of gestation) , 27 pregnant women with normal uncomplicat-ed pregnancies (≥36 weeks of gestation) and 20 healthy non-pregnant women were enrolled in the study. Reverse-transcription polymerase chain reaction ( qRT-PCR) was performed to detect mRNA expression for maternal placenta retinoic acid-related orphan receptor C (RORc), Foxp3, and miR-210. Foxp3 protein expression was evaluated by Western blot. Results ⑴The serum levels of IL-6, IL-17 and TGF-beta 1 in preeclampsia patients were significantly higher than those in normal pregnant women, and the level of Treg cytokine IL-10 was lower than that in normal pregnant women ( P <0. 05 ) . ⑵ The percentage of CD4 +CD25 +CD127 - /CD4 +T cells in peripheral blood of preeclampsia patients was significantly lower than that of normal pregnancy group and healthy non-pregnant women ( P <0. 001 ) . ⑶ The mRNA expression of Foxp3 in placenta of preeclampsia patients was significantly lower than that of normal pregnant women, RORc in preeclampsia patients was significantly higher than that of normal pregnant women, and the expres-sion of microRNA210 in preeclampsia patients was enhanced ( P<0. 01 ) . ⑷ Consistent with mRNA ex-pression results, lower protein expression levels of Foxp3 was observed in patients with PE compared with normal pregnant subjects. Conclusions Treg cells decreased in preeclampsia patients and Treg/Th17 im-balance existed in preeclampsia patients, which regulate maternal immune tolerance to fetuses. The expres-sion of Foxp3 in placenta of preeclampsia patients was significantly decreased, which was correlated with the expression of microRNA-210.

Objective To investigate the correlation between peroxisome proliferator-activated re-ceptor-gamma ( PPAR-γ) gene polymorphism and preeclampsia ( PE) . Methods 110 PE patients and 110 normal pregnants who delivered in our hospital from May 2016 to October 2018 were selected as the study subjects. Detection of two loci of PPAR-γ gene by SNaPshot technique: rs10865710 and rs4684847. Re-sults ⑴ rs10865710:The genotype frequencies of CC, CG and GG in the control group were 44. 55％, 42. 73％ and 12. 73％, respectively, and those in the PE group were 31. 82％, 44. 55％ and 23. 64％, re-spectively. There was a critical difference in the distribution of genotype frequencies between the two groups (x2 =5. 975, P=0. 050); The frequencies of C and G alleles were 65. 91％ and 34. 09％ in the control group, 54. 09％ and 45. 91％ in the PE group, respectively. There was significant difference in the fre-quency distribution of C and G alleles between the two groups (x2 =6. 402, P=0. 015). ⑵ rs4684847:the genotype frequencies of CC, CT and TT in control group were 94. 55％, 5. 45％, 0, and those in PE group were 84. 55％, 15. 45％ and 0, respectively,with significant difference in the distribution of genotype frequencies between the two groups (x2 =5. 875, P =0. 015). The frequencies of C and T alleles in control group were 97. 27%, 2. 73% and those in PE group were 92. 27% and 7. 73%, respectively,with significant difference in allele frequency distribution between the two groups (x2 = 5. 551, P = 0. 030). ⑶ The frequency of GG genotype and G allele at rs10865710 locus in PE group was significantly higher than that in control group [OR (95% CI) =2. 600 (1. 190 - 5. 679), P = 0. 021; OR (95% CI) = 1. 64 (1. 117 -2. 411), P =0. 015]. The frequencies of CT genotype and T allele at rs4684847 locus in PE group were significantly higher than those in control group [OR (95% CI) =3. 168 (1. 199 -8. 374), P =0. 026; OR (95% CI) =2. 987 (1. 155 -7. 726), P =0. 030]. Conclusions The single nucleotide polymorphisms of PPAR-γ gene rs10865710 and rs4684847 may be related to the susceptibility to preeclampsia in Chinese population.