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.

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.

Objective: To investigate the inhibitory effects of ampelopsin (AMP) on proliferation, autophagy and apoptosis to human colon cancer cells and its possible mechanism. To observe the function of autophagy in the apoptosis of colon cancer cells as well. Methods: The lentivirus infection method was adopted here to construct double fluorescence [green fluorescent protein (GFP) and red fluorescent protein (RFP)] labeled microtubule-associated protein light chain 3 (LC3) overexpressed recombinant HCT116-RFP-GFP-LC3 cells. The GFP and RFP labeled LC3 expression in HCT116-RFP-GFP-LC3 cells were observed by fluorescence microscope, and Western blotting was used to detect the expression of LC3 in HCT116-RFP-GFP-LC3 cells at the same time. The proliferation inhibition of recombination HCT116-RFP-GFP-LC3 cells and parental HCT116 cells treated with different concentrations of AMP (0, 50, 100, 175, 250, 350, 400 and 450 μg/mL) was detected by CCK-8 assay and the cell morphology was observed. The apoptotic rate of HCT116 cells treated with AMP (0, 25 50, and 75 μg/mL) was detected by FCM method, and the apoptotic-related proteins Bax, nuclear factor-kappa B (NF-κB) and Bcl-2 expression levels were detected by Western blotting. Autophagy induction was detected by counting fluorescence dots triggered by transformation of LC3to LC3Ⅱ visualized by laser confocal microscopy after HCT116-RFP-GFP-LC3 cells treated with AMP (0, 25 50, and 75 μg/mL) alone or combined with bafilomycin A1(Baf A1) (an autophagy inhibitor) (20 nmol/L). After the HCT116 cells were treated with AMP (25 μg/mL) alone or combined with Baf A1 (20 nmol/L), the apoptotic rate was detected by FCM method, and the expression level of autophagy-related proteins LC3Ⅱ and p62 as well as apoptotic-related proteins were detected by Western blotting. Results: RFP-GFP-LC3 could stably express in HCT116-RFP-GFP-LC3 cells, indicating that HCT116-RFP-GFP-LC3 recombinant cells were successfully constructed. The results of CCK-8 assay suggested that AMP could significantly inhibit the proliferation of recombinant and parental cells in a concentration-dependent manner. Meanwhile, there was no significant difference in cell morphology or cell proliferation inhibition rate between these two cells (P > 0.05). The apoptosis rate of HCT116 cells increased remarkably along with the enhancement of AMP concentration which means there is a concentration-dependent manner (all P < 0.05). The expression levels of pro-apoptotic protein Bax and NF-κB were increased, and the apoptosis inhibitory protein Bcl-2 was down-regulated (all P < 0.01). The confocal microscopy results showed that with the increase of AMP concentration, the numbers of autophagy points were significantly increased (P < 0.01), and the expression level of autophagy protein LC3Ⅱ was up-regulated, indicating that AMP could trigger autophagy on colon cancer cells. Comparing with AMP alone group, AMP combined with Baf A1 could increase the apoptosis rate of HCT116 significantly (P < 0.05), and the expression level of apoptotic protein Bax promoted remarkably (P < 0.05). The expression level of the apoptosis inhibitory protein Bcl-2 demoted as well. All these results suggest that autophagy blocking could promote AMP induced apoptosis. Conclusion: AMP can inhibit the proliferation of colon cancer cells HCT116, inducing autophagy and apoptosis; inhibition of autophagy can promote AMP-induced apoptosis on colon cancer cells.

Since the two-child policy has been fully liberalized, the number of elderly women has increased, and the widespread application of assisted reproductive technology has increased the proportion of high-risk pregnancy year by year, which adds new challenges to obstetric work. High-risk pregnancy not only increases the risk of pregnancy complications, but also threatens the health of mother and child. Prenatal screening and pregnancy care for high-risk pregnant women are essential to ensure their safety through pregnancy and delivery. In recent years, with the continuous improvement of prenatal screening and hierarchical medical system, high-risk pregnant women have received more intensive monitoring and active intervention. At the same time, the promotion of Internet + hospitals has also achieved initial results in the field of obstetrics, which has increased the convenience of perinatal health care services. However, there are still differences in maternal health status between urban and rural areas and among different regions, and the supply capacity of maternal and child health services needs to be improved. In terms of reducing maternal and perinatal mortality, obstetric workers and maternal women still need to work together to improve the management of high-risk pregnancies, prevent adverse pregnancy outcomes, and ensure the safety of mothers and infants.

Objective To investigate the clinical efficacy and safety of Xiao'er Chiqiaoqingre granule in the treatment of acute upper respiratory tract infection.Methods From January 2017 to December 2017,a total of 116 children with upper respiratory tract infection in Taizhou Integrated Traditional Chinese and Western Medicine Hospital were selected and randomly divided into control group and observation group according to different treatment regimens,with 58 cases in each group.The control group was given ribavirin granules,ibuprofen suspension drops for treatment.The observation group was given Xiao'er Chiqiaoqingre granule on the basis of the control group.The two groups were treated for 5 days,then the clinical effect,the improvement of clinical symptoms,the time of cure,the level of serum cytokines and safety were compared between the two groups.Results After treatment,the cure rate of the observation group was 96.6％,which was significantly higher than 81.0％ of the control group (P ＜0.05).The antipyretic time,cough disappeared time,healing time in the observation group were (1.4 ± 0.5) d,(2.1 ± 0.4) d,(4.5 ± 1.4) d,respectively,which were significantly shorter than those in the control group[(2.6 ± 0.9) d,(3.4 ± 1.1) d,(5.8 ±1.9) d] (all P ＜ 0.05).The throat irritation subsided time of the observation group was (3.5 ± 1.1) d,which of the control group was (3.8 ± 1.3) d,the difference was not statistically significant (P ＞ 0.05).The serum levels of IL-6,IL -10 and TNF-in the observation group were (108.45 ± 25.61) μg/L,(34.88 ± 9.07) μg/L,(1.26 ± 0.86) mg/mL,respectively,which were significantly lower than those in the control group[(129.27 ± 28.31) μg/L,(43.27 ±10.09)μg/L,(2.11 ± 1.03)mg/mL] (all P ＜ 0.05).There were no other serious adverse reactions in the two groups.Conclusion Xiao'er Chiqiaoqingre granule in the treatment of acute upper respiratory tract infection can significantly improve clinical symptoms,improve clinical curative effect,and has good safety and certain clinical value.

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 To evaluate the role of thrombus elastograph (TEG) in evaluating the coagulation function of patients with acute ischemic stroke.Methods Totally 116 cases of patients with acute ischemic stroke and 116 cases of health physical examination people from our hospital were selected as case group and control group.The blood clotting index and thrombelastogram index of the groups were detected.Results In case group of acute phase,fibrinogen (FIB),two D-dimer (D-D),maximum blood clot strength (MA),0.5 h blood clot reduction rate of MA (LY30),alpha angle,integrated coagulation index (CI) and blood clot strength (G) were significantly higher than those of control group and the recovery period group.The difference was statistically significant(P＜0.01).In cases of acute phase,activated partial thromboplastin time (APTT),prothrombin time (PT),PT-INR,reaction time (R),clot formation time (K value) were significantly lower than those in the healthy control group and the recovery period cases,the difference was statistically significant (P＜0.01).MA,LY30,α Angle and CI were negatively correlated with PT,APTT,PT-INR,and were positively correlated with FIB,D-D(P＜0.05);R value,K value were positively correlated with PT,APTT,PT-INR,and were negatively correlated with FIB,D-D(P＜ 0.05).Conclusion TEG plays a significant role in monitoring and evaluating coagulation function in patients with acute ischemic stroke,and has important evaluation effect on the prognosis of disease.It is worthy of clinical application.

Objective To explore the change of Doppler velocity waveforms in the fetal main pulmonary artery in patients with early onset severe preeclampsia and to assess its value in fetal lung maturity.Methods A prospective study was conducted to analyze fetal main pulmonary artery velocity waveforms parameters including acceleration time(AT),ejection time(ET),acceleration time/ejection time (AT/ET),peak systolic velocity (PSV) in 30 cases of pregnant women with early onset severe preeclampsia.According to neonatal outcome,these cases were divided into respiratory distress syndrome (RDS) group (18 cases) and non-RDS group (12 cases).Each group was compared with 54 cases and 36 cases that were normal and had corresponding gestational age separately.Doppler parameters were compared between these two groups and their corresponding normal control groups.Results Gestational age at sonographic examination,gestational age at delivery and birth weight of neonates in RDS group were significantly lower than those in non-RDS group(all P ＜0.001).The value of AT,ET,AT/ET,PSV were lower in RDS group than those in gestational age-matched control group(all P ＜0.05),while there were no significant difference between non-RDS group and gestational age-matched control group(all P ＞ 0.05).Conclusions Doppler ultrasound monitoring fetal main pulmonary artery velocity waveforms to evaluate fetal lung maturity in patients with early onset severe preeclampsia has clinical application value.