Objective:To investigate reflectance confocal microscopic features of childhood scabies, and to analyze clinical significance of reflectance confocal microscopy (RCM) in the diagnosis and treatment of childhood scabies.Methods:A retrospective analysis was performed in 77 children with confirmed scabies at Department of Dermatology, Tianjin Children′s Hospital from April 2018 to October 2019. These patients were divided into negative treatment history group (61 cases) and positive treatment history group (16 cases) . All the patients underwent RCM and microscopic examination of skin scrapings.Results:Among the 77 children with scabies, positive microscopic examination results were found in 33 (42.86%) , including 28 in the negative treatment history group and 5 in the positive treatment history group. Burrows, sarcoptid mites or their eggs and fecal pellets were observed in 56 cases (72.73%) by RCM, including 49 (80.33%) in the negative treatment history group and 7 in the positive treatment history group. RCM showed a significantly increased overall positive rate compared with microscopy of skin scrapings ( χ2=14.08, P<0.05) . In the negative treatment history group, RCM also showed a significantly increased positive rate compared with microscopy of skin scrapings ( χ2=15.53, P < 0.05) . Conclusion:RCM is of high clinical value to the diagnosis and treatment of childhood scabies.

Objective:To investigate the value of proton magnetic resonance spectroscopy (1H-MRS) on the diagnosis of SCA3/MJD,and to calculate the correlation between 1H-MRS ratio and the clinical score.Methods:Sixteen patients with SCA3/MJD and 19 healthy volunteers were scanned with 1H-MRS.The data of N-acetyl aspartate,creatine,choline-containing compounds,myoinositol,NAA/Cr,Cho/Cr,and mI/Cr ratio were collected,which were grouped for comparative study.The onset patients with SCA3/MJD were evaluated with the International Cooperative Ataxia Rating Scale and Scale for the Assessment and Rating of Ataxia,the correlation between NAA/Cr,Cho/Cr or mI/Cr ratio and the clinical score was calculated.Results:The NAA/Cr in the pons and cerebellar dentate nucleus from the onset patients with SCA3/MJD was significantly reduced compared to that in the normal control group.The NAA/Cr in the cerebellar dentate nucleus of onset patients with SCA3/MJD was obviously correlated with ICARS.Conclusion:SCA3/MJD lesions are mainly located in the cerebellum and brainstem,where gray and white mater are also involved.The cerebellar dentate nucleus may be the earliest involved area.There is a correlation between the ICARS and the cerebellar lesion degree.The ICARS reflects the severity of clinical manifestations.1H-MRS is useful in the diagnosis of SCA3/MJD.

Tumor necrosis factor-like attenuated apoptosis inducer (TWEAK) is a new member of the tumor necrosis factor super family.TWEAK regulates cellular proliferation,differentiation,migration,apoptosis and inflammation by binding its receptor,fibroblast growth factor-inducible 14 (Fn14),through the interaction between cells or in a paracrine fashion.The role of TWEAK / Fn14 signaling pathway in the development of lung diseases such as lung injury,asthma and lung cancer has drawn increasing attention.

Objective To evaluate the clinical application value of reflectance confocal microscopy(RCM) in the diagnosis of several common diseases manifesting as papules in children, including lichen nitidus, verruca planae, lichen striatus, milium, molluscum contagiosum and lichen pilaris. Methods A total of 579 children clinically characterized by papules were recruited into this study. RCM was used to observe lesions and perilesional normal skin. The RCM features of 6 diseases manifesting as papules were analyzed and compared. Results Based on RCM images, 236 patients were diagnosed with lichen nitidus, 70 with verruca planae, 123 with lichen striatus, 40 with milium, 53 with molluscum contagiosum and 57 with lichen pilaris. All the 6 diseases had typical RCM features. Concretely speaking, RCM images of lichen nitidus lesions showed infiltration of dense inflammatory cells and melanophages in enlarged dermal papillae. In RCM images of verruca planae lesions, cells in the granular and spinous layers were arranged in concentric circles, giving a rose cluster?like appearance. RCM images of lichen striatus lesions revealed focal swelling of stratum spinosum, absent or local liquifaction degeneration of basal cells, and clustering of a moderate number of inflammatory cells in the superficial dermis. In RCM images of milium lesions, well?circumscribed round or oval structures containing highly but nonuniformly refractive materials could be seen in the dermis. RCM images of molluscum contagiosum lesions showed intact cystoid structures containing highly refractive molluscum bodies. Lowly to moderately refractive cutin ? like materials were observed along with the dilation of hair follicle infundibula in RCM images of lichen pilaris lesions. In RCM images, the 6 diseases were distinguished mainly based on structural features(patterns and refractivity)of skin lesions shown by continuous vertical scanning. Conclusion RCM is of great value to the diagnosis of diseases manifesting as papules in children.

Objective To explore the association between the cholesterol level and disease relapse in patients with Neuromyelitis Optica Spectrum Disorders (NMOSD). Methods Clinical and biochemical data of 96 patients with NMOSD were retrospectively analyzed. According to disease relapses, NMOSD patients were divided into primary and relapse groups.Their clinical characteristics and cholesterol level were compared between the two groups.The correlation between cholesterol level and disease recurrence was analyzed by partial correlation adjusted for sex. Results Between the primary group and relapse group,there were statistically significant differences in gender(48.8% vs. 80%, P<0.05), cholesterol (CHO)(4.27±0.85 vs. 5.18±1.26)and low density lipoprotein cholesterol (LDL-C)level[2.37(0.90)vs. 3.00 (1.21)](P<0.001). There were no significant difference in age, upper respiratory infection, gastrointestinal tract, rate of higher cerebrospinal fluid protein, triglyceride (TG)and high density lipoprotein cholesterol(HDL-C)(P>0.05). The percentage of recurrent patients in CHO normal and higher groups were 43.55% and 82.35% respectively, which was statistically significant difference between the two groups ( x2=13.51, P<0.01); The rate of relapse of LDL-C normal and higher groups were 47.69% and 75% respectively, which was statistically significant difference between the two groups ( x2=7.58,P<0.01).After adjusting for sex,CHO level was positively correlated with disease relapse(r=0.346,P<0.01),and LDL-C level also was positively correlated with disease relapse(r=0.380,P<0.01). Conclusion High CHO and LDL-C level may be associated with disease relapse, which has some clinical guiding significance for controlling CHO level in NMOSD patients.

Objective: To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation. Methods: For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting. Results: In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal. Conclusion Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.

Objective:To analysis the necessity of additional surgical intervention for non-curative endoscopic resection patients with early gastric cancer.Methods:A retrospective analysis was conducted on 73 patients with early gastric cancer who underwent additional surgical procedures after non-curative endoscopic resection at Chinese PLA General Hospital from July 2009 to May 2023. The main outcome measures included pathological classification, positive horizontal margins, positive vertical margins, invasion depth, vascular and lymphatic invasion, eCura grade, lymph node metastasis, and overall survival rate.Results:A total of 73 patients with early gastric cancer who were determined to have non-curative endoscopic resection underwent additional surgical procedures, including 58 males and 15 females with a mean age of 61 (53-67) years. In terms of the site of onset, 37 cases were located in the upper part of the stomach, 24 cases in the lower part, 11 cases in the middle part, and 1 case had multiple lesions. In terms of pathological classification, 43 cases were highly differentiated tubular adenocarcinoma, 16 cases were mucinous/signet ring cell carcinoma, 10 cases were poorly differentiated tubular adenocarcinoma, and 4 cases were high-grade intraepithelial neoplasia. In terms of morphological classification, 22 cases were type 0-Ⅱa, 43 cases were type 0-Ⅱb, and 8 cases were type 0-Ⅲ. In terms of invasion depth, 17 cases were mucosal cancer, 23 cases had submucosal invasion less than 500 μm, and 33 cases had submucosal invasion more than 500 μm. In terms of vascular and lymphatic invasion, 8 cases had lymphatic vessel invasion and 8 cases had venous invasion. Among the 73 patients, 4 were diagnosed as having eCura A, 5 as eCuraB, 4 as eCura C1, and 60 as eCura C2. Among the 60 patients diagnosed as having eCura C2, only 2 cases (3.3%) were found to have lymph node metastasis around the stomach based on postoperative pathological evaluation. Among the 73 endoscopic specimens, 7 patients had positive horizontal margins, 21 had positive vertical margins, and 2 had positive margins in both directions, totaling 30 patients with positive horizontal or vertical margins. According to postoperative pathological evaluation, 9 cases (30.0%) had residual tumors in the original site. Among the 73 patients, 5 were lost to follow-up and 4 died, resulting in an overall survival rate of 94.12% (64/68) and disease-specific survival rate of 98.53% (67/68). The follow-up time of patients was 61.37 (10-166) months.Conclusion:For early gastric cancer patients with eCura C2 following non-curative endoscopic resection, additional surgery is feasible. However, the proportion of patients with actual lymph node metastasis is relatively low.

OBJECTIVE: To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation. METHODS: For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting. RESULTS: In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal. CONCLUSION Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.
Female ; Fragile X Mental Retardation Protein ; genetics ; Fragile X Syndrome ; diagnosis ; Heterozygote ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis

Objective:To study the expression and significance of neutrophil extracellular traps (NETs) in neonatal sepsis.Methods:Prospective research were used in this study. Term infants with neonatal sepsis hospitalized for the first time in the Department of Neonatology, Children's Hospital of Soochow University from June 2020 to November 2020 were selected as the sepsis group. According to a ratio of about 1∶1, term infants with mild hyperbilirubinemia who were admitted in the same period, with gestational age difference less than 1 week from those in the sepsis group, and whose parents agreed to participate in the study were selected as the control group. On admission, clinical data as well as blood samples of the two groups were collected. Levels of NETs marker citrulline histone H3-DNA (CitH3-DNA) were detected by Enzyme-linked immunosorbent assay, and circulating cell-free DNA (cfDNA) was tested by the fluorescence microplate reader. General data, white blood cell (WBC), neutrophil count (NE), platelet (PLT), C- reactive protein (CRP), blood culture, CitH3-DNA and cfDNA were compared between the two groups. The diagnostic value of CITH3-DNA and cfDNA in neonatal septicemia was analyzed by the receiver operating characteristic (ROC) curve.Results:A total of 74 infants were included in the study, including 39 cases in the sepsis group and 35 cases in the control group. CitH3-DNA and cfDNA in the sepsis group were significantly higher than those in the control group [CitH3-DNA (optical density): 0.85±0.05 vs. 0.48±0.03, cfDNA (mg/L): 0.90±0.05 vs. 0.56±0.03] ( P<0.01). There was no significant correlation between CitH3-DNA and cfDNA. The level of CitH3-DNA had no correlation with gender, gestational age, age, birth weight, WBC, NE, PLT and CRP ( P>0.05). cfDNA was positively correlated with age and NE ( P<0.05), and negatively correlated with PLT ( P<0.05). Combined with CRP, the area under the ROC curve of CitH3-DNA+CRP, cfDNA+CRP, and CitH3-DNA+cfDNA+CRP were 0.947, 0.947 and 0.970 respectively, and the sensitivity to predict neonatal sepsis were 92.3%, 84.6% and 94.9% respectively, the specificity were 94.3%, 97.1% and 100% respectively, all higher than the predictive value of each index alone. Conclusions:The plasma NETs levels increase significantly in neonatal sepsis patients, especially CitH3-DNA with a strong specificity, and can be considered as a biomarker for early diagnosis of neonatal sepsis. NETs together with CRP, could drastically improve the predictive value of neonatal sepsis.

Objective:To explore the pathogenic variants of a family with syndromic deafness by high-throughput sequencing.Methods:The family was from Puyang City, Henan Province, and had four members, including two with syndromic deafness. The proband and his sister had congenital deafness, and their parents had normal phenotypes. The clinical phenotype of the family was characterized using clinical examinations and pedigree analysis. The clinical examinations included imaging examination, audiometry (pure tone audiometry, acoustic immittance, brainstem auditory evoked potential, and otoacoustic emission), vestibular function test, and ophthalmic examination (visual acuity test, visual field test, fundus examination, visual evoked potential, and electroretinogram). Target exome sequencing of 129 known deafness genes and bioinformatics analysis were used to screen suspected pathogenic variants. Sanger sequencing and minigene assay were used to verify and functionally investigate the mutation detected, respectively. According to the standards and guidelines for interpreting genetic variants proposed by the American College of Medical Genetics and Genomics, the variants c.6049G>A and c.8699A>G were classified as pathogenic/likely pathogenic, and the variant c.9856C>G was classified as variants of uncertain significance.Results:The probands and his sister had severe sensorineural hearing loss with decreased binocular vision, night blindness, decreased peripheral visual field sensitivity and partial visual field defect, and normal vestibular function. Both of them had three CDH23 mutations, including CDH23 (NM_022124.5) c.6049G>A (p.Gly2017Ser),c.9856C>G (p.His3286Asp), and c.8699A>G (p. Asp2900Gly), The first two were inherited from the father, and the last one was from the mother. The missense variants c.9856C>G and c.8699A>G were not included in the gnomad database. The missense mutation c.6049G>A was located in the last position of exon 46 and was predicted to affect splicing by bioinformatics software. The minigene experiment showed that the mutation cause exon skipping of exon 46, resulting in an abnormal protein. Conclusions:Compound heterozygous variations of the CDH23 are the leading cause of USH1D in the family. This study confirms that the compound heterozygosity of splicing and missense variants of the CDH23 gene could lead to USH1D.