Objective To evaluate the clinical efficacy of thalidomide plus mometasone furoate cream under occlusion and ultraviolet irradiation for the treatment of prurigo nodularis.Methods A non-randomized,parallel,controlled study was carried out.Eighty patients with prurigo nodularis were divided into 3 groups,i.e.,control group(no irradiation),ultraviolet A1(UVA1)group,and ultraviolet B(UVB)group.All the patients were treated with oral thalidomide and topical mometasone furoate cream under occlusion.Additionally,the patients in UVA1 group and UVB group received UVA1 and NB-UVB irradiation,respectively,thrice a week for no less than 8 weeks.Patients were evaluated at the baseline,and on day 30 after the beginning of treatment.Clinical outcome parameters included disease severity score and visual analogue scales for pruritus.Peripheral blood eosinophils were counted during each visit.Rank sum test was performed to compare the clinical efficacy between the 3 groups,and the relationship between peripheral blood eosinophile count and visual analogue scales for pruritus was analyzed.Results After 30 days of treatment,skin lesions were markedly improved in 5 (21.74％),13(43.33％)and 9(37.5％)patients,and improved in 7(30.43％),12(40％)and 7(29.17％)patients,in the control group,UVA1 group and UVB group respectively;a marked response in pruritus was noted in 7(30.43％),18(60.00％)and 14(58.33％)patients respectively in the control group,UVA1 group and UVB group.The efficacy on skin lesions and pruritus was significantly stronger in the UVA1 group and UVB group than in the control group(skin lesions:Z =8.21,5.22,both P ＜ 0.01;pruritus:Z =4.50,4.50,both P ＜ 0.01),but similar between the UVA1 group and UVB group(skin lesions:Z =0.50,P ＞ 0.05;pruritus:Z =0.35,P ＞ 0.05).Peripheral blood eosinophil count was positively correlated with the visual analogue scale for pruritus in the patients(r =0.53,P ＜ 0.01).Conclusions Thalidomide combined with mometasone furoate cream under occlusion and ultraviolet irradiation shows notable efficacy for the treatment of prurigo nodularis,and the combination with UVA1 or NB-UVB irradiation enhances the efficacy of thalidomide and mometasone furoate cream under occlusion.

Objective:To evaluate the effect of oral iodized oil pills on iodine nutrition and thyroid function of pregnant women in Xinjiang Uygur Autonomous Region (Xinjiang).Methods:From May to July 2017, one county was selected from Ili Prefecture without taking iodized oil pills, Aksu Prefecture taking iodized oil pills once a year, and Kashgar Prefecture taking iodized oil pills twice a year in Xinjiang as survey sites, respectively; 100 pregnant women (evenly distributed in early, middle and late pregnancy) were selected from each survey county, the general data, urine and blood samples were collected, and urinary iodine and thyroid function indicators [free triiodothyronine (FT 3), free thyroxine (FT 4), thyrotropin (TSH), anti thyroglobulin antibody (TgAb), and anti thyroid peroxidase antibody (TPOAb)] were tested. Results:A total of 308 pregnant women were investigated, and 289 were finally included in the analysis, with an average age of 25 years; the body mass index (BMI) was (22.69 ± 3.07) kg/m 2. The occupation distribution was mainly farmer, accounting for 93.77% (271/289); most of them had junior high school education or below, accounting for 71.97% (208/289). The median urinary iodine of early, middle and late pregnant women in Kashgar Prefecture was 712.87, 604.50 and 656.23 μg/L, respectively, which were in iodine excess state. The iodine nutrition level of early pregnant women in Ili Prefecture and Aksu Prefecture was in iodine super suitability state, and the iodine nutrition level of middle and late pregnant women was in the iodine suitability state. The difference of median urinary iodine in early, middle and late pregnancy women between different regions was statistically significant ( Z = 53.02, 49.60, 44.66, P < 0.001). In addition, the urinary iodine of women in Kashgar Prefecture during each pregnancy period was significantly higher than that in Ili Prefecture and Aksu Prefecture ( P < 0.05). There were statistically significant differences in the levels of FT 3 among women in early pregnancy, FT 4 and TSH among women in middle pregnancy between different regions ( F = 4.59, 10.92, Z = 8.61, P < 0.05 or < 0.001). Among them, the level of FT 3 in early pregnancy in Kashgar Prefecture was lower than that in Ili Prefecture ( P < 0.05); the level of FT 4 in Kashgar Prefecture during middle pregnancy was higher than that in Ili Prefecture, and the level of TSH was lower than that in Ili Prefecture ( P < 0.05). There was no significant difference in TgAb positive rate, TPOAb positive rate and double antibody positive rate of early, middle and late pregnant women between different regions ( P > 0.05). The detection rates of hypothyroxinemia in early pregnant women in Ili Prefecture, Aksu Prefecture and Kashgar Prefecture were 13.9% (5/36), 3.2% (1/31) and 0 (0/33), respectively, and there was a statistically significant difference between different regions ( P = 0.036). The detection rates of subclinical hyperthyroidism in middle pregnant women were 0 (0/35), 0 (0/40), 17.6% (6/34), respectively, and there was a statistically significant difference between different regions ( P = 0.001). Conclusions:The results of urinary iodine in the three regions are in line with the iodine nutrition distribution under their respective iodine supplement strategies. Pregnant women in Kashgar Prefecture present iodine excess status after taking iodized oil pills; at the same time, the serum FT 3, FT 4 and TSH levels of pregnant women in Kashgar Prefecture are affected by iodine nutrition levels. Although it is scientific and effective to implement the intensified iodine supplement measures for pregnant women, it is still necessary to further study the suitability of oral iodine oil pills to ensure that pregnant women are at an suitability iodine nutrition level.

Objective: To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. Methods: A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Results: A total of 11 epileptic patients carried GABRA1 gene pathogenic variants, of whom 10 were de novo variants and the other one was inherited from the patient′s mother. Two patients had the same variants. Six variants were novel. Ages at seizure onset ranged from 3 to 14 months, and the median age was 8 months. The seizure was first observed within 1 year in 10 patients and beyond 1 year of age in 1 patient. Multiple seizure types were observed, including focal seizures in 10 patients, generalized tonic clonic seizures (GTCS) in 3 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. There were 5 patients with multiple seizure types. Sensitivity to fever was observed in 9 patients, among whom 6 patients had a history of status epilepticus. Two patients had photoparoxysmal response. Five patients had abnormal EEG background, and 6 patients had abnormal discharges in EEG during interictal phase. Brain magnetic resonance imaging (MRI) was normal in all patients. Developmental delay in various degrees was present in 9 patients. Among the 11 patients, Dravet syndrome was diagnosed in 5 patients, West syndrome in 2 patients, undiagnosed early-onset epileptic encephalopathy in 1 patient, and focal epilepsy in the other 3 patients. The ages at the last follow-up ranged from 8 months to 12 years. During follow-up, 8 patients were seizure-free for 6 months to 8 years, and 1 patient had discontinuation of medication. Conclusions In epilepsy associated with GABRA1 gene variants, de novo pathogenic variants are more common than inherited. Most epilepsy caused by GABRA1 gene variants occurs in infancy. Most patients have multiple seizures and focal seizures are common. Most patients have a comparatively favorable prognosis, but they may still have varied degrees of developmental delay.