Objective:To retrospectively analyze clinical characteristics and treatment of pemphigus/bullous pemphigoid (BP) complicated by herpes simplex virus (HSV) infection.Methods:Inpatients with pemphigus/BP complicated by HSV infection were collected from Wuhan No.1 Hospital from 2016 to 2021, and their clinical characteristics, treatment and follow-up results were retrospectively analyzed.Results:Among the 8 patients with pemphigus/BP complicated by HSV infection, there were 2 males and 6 females, and their age was 50.6 ± 8.3 years. Five of them were diagnosed with pemphigus vulgaris (PV), 1 with pemphigus foliaceus (PF), and 2 with BP. Seven were infected with HSV-1, and 1 with HSV-2. All the 8 patients were given systemic glucocorticoids and immunosuppressive agents for the treatment of pemphigus or BP, and were admitted to the hospital due to resistance to the treatment. Seven patients presented with exacerbation or recurrence of primary lesions, and 1 presented with enlarged lesions all over the body. HSV infection-induced lesions were located on the trunk in 4 cases, on the oral mucosa in 4, on the scalp in 3, and on the face in 2; lesions mainly manifested as irregular erosions with blood crusts, and some centrally umbilicated pustules; 7 patients had obvious pain at the lesional sites. During HSV infection, anti-desmoglein 1 antibody levels decreased in all the 6 patients with pemphigus, and anti-desmoglein 3 antibody levels decreased in 4 of the 5 patients with pemphigus vulgaris; anti-BP180 antibody levels decreased in 1 patient with BP, but increased in the other one with BP. After antiviral therapy at adequate doses for adequate durations (7- to 14-day treatment with valacyclovir alone or in combination with ganciclovir), HSV infection was controlled, the autoimmune bullous skin disorder intensity scores decreased compared with those before the antiviral therapy, and pain was significantly relieved in all the patients. No dose adjustment of glucocorticoids or other immunosuppressive agents was made during antiviral therapy in all patients.Conclusion:HSV infection should be considered when patients with pemphigus/BP suffer from recurrence or exacerbation and poorly respond to conventional treatment; for patients with pemphigus/BP complicated by HSV infection, systemic antiviral therapy at adequate doses can be used to control the disease condition without modifying the conventional immunosuppressive regimen.

Objective:To summarize clinical manifestations and histopathological features of granular parakeratosis (GP) after exposure to benzalkonium chloride.Methods:A retrospective analysis was performed on 7 GP cases with a history of benzalkonium chloride exposure in the Department of Dermatology at Wuhan No.1 Hospital from April to August 2022. Data were collected on the general condition, skin lesion manifestations, pathological examination, treatment, and follow-up of the patients, and retrospectively analyzed.Results:The 7 adult patients with GP typically presented with erythema and brown scales in the intertriginous area, exhibiting an annular distribution pattern. All the 7 patients reported recent exposure to disinfectants containing benzalkonium chloride. A total of 10 skin biopsies were taken from the 7 patients. Histopathological examination showed characteristic hyperkeratosis and fine blue-gray parakeratotic granules in the stratum corneum. All skin lesions improved 1 month after cessation of exposure to benzalkonium chloride.Conclusion:GP has a distinct clinical pattern and histopathological manifestations, and a history of exposure to benzalkonium chloride can be helpful for the diagnosis of GP.

Objective:To analyze the results and cost-effectiveness of colorectal cancer (CRC) screening program among Zhejiang urban residents so as to provide evidence for further optimization of CRC screening strategies.Methods:Based on the Cancer Screening Program in Urban China which was conducted in Zhejiang province from 2013-2018, data related to the rates on compliance and detection through the CRC screening program among the 40-74 year-old residents were analyzed. Chi-square tests were used to compare the differences among groups, and multivariate logistic regression models were applied to explore the potential risk factors. Cost-effectiveness ratio (CER) was calculated by using the cost per lesion detected as the indicator.Results:Among all the 166 285 participants who completed the risk assessment questionnaire, 21 975 (13.2%) were recognized as under the high risk of CRC and 4 389 (20.0%) of them received the colonoscopy. The detection rates of CRC, advanced adenoma, and non-advance adenoma were 0.3% (11 cases), 2.7% (119 cases), and 5.2% (229 cases), respectively. Results from the multivariate logistic regression analyses showed that factors as age, gender, education level, smoking, drinking alcohol, previous fecal occult blood test (FOBT), polyp history, and family history of CRC were significantly associated with the compliance rate of colonoscopy while age, smoking and polyp history were significantly associated with the detection rate of advanced neoplasms (CRC and advanced adenoma). The costs were ￥22 355.74 Yuan for every CER advanced neoplasm detection and ￥264 204.18 Yuan per CRC detection, respectively. The CER decreased along with ageing. Sensitivity analysis showed that CERs were expected to decrease when the compliance rate of colonoscopy was increasing.Conclusions:The current screening program seems effective in detecting the precancerous colorectal lesions, but the relatively low compliance rate of colonoscopy restricting both the diagnostic yields and economic benefits. It is necessary to improve the awareness and acceptance of colonoscopy among the high-risk CRC population.

OBJECTIVE: To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy. METHODS: Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration. RESULTS: Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q. CONCLUSION The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.
Chromosomes, Human, Pair 4 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic ; Wolf-Hirschhorn Syndrome ; genetics

We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.

Objective To analyze the genotype-phenotype correlation in fetal skeletal dysplasia,and to investigate the methods of prenatal diagnosis and genetic counseling.Methods From May 2016 to November 2017,three gravidas whose fetuses were diagnosed with short stature homeobox (SHOX) gene deficiency were recruited from those receiving invasive prenatal diagnosis and single nucleotide polymorphismarray (SNP-array) due to fetal structural abnormalities detected by prenatal ultrasound scan in Shanghai First Maternity and Infant Hospital,Tongji University School of Medicine.Fetus 1 and 3 were singleton pregnancies and fetus 2 was twin pregnancy.Amniotic fluid cells were isolated and analyzed by karyotyping and SNP-array.Peripheral blood samples were collected from their parents and also analyzed by SNP-array.Results All three fetuses were diagnosed with fetal skeletal dysplasia based on second trimester ultrasound findings showing the lengths of femora,humeri,tibiae,fibulae,ulnae and radii length below the 5th percentile of corresponding gestational age.Karyotypes of the three fetuses were normal.SNP-array examination showed that each case had 1 to 2.5 Mb deletion in the pseudoautosomal region of the short arms of sex chromosomes,including SHOX gene.Their skeletal dysplasia were all caused by SHOX haploinsufficiency.Microdeletions of fetus 1 and 3 were inherited from their mothers,while that of fetus 2 was inherited from the father.After genetic counseling,two singleton gravidas decided to terminate their pregnancies and the twin pregnant one underwent selective reduction.Conclusion Prenatal ultrasound,in combination with SNP-array,offers fast and efficient detection of fetal skeletal dysplasia due to SHOX gene deficiency.

Objective To evaluate the safety and perinatal outcomes of thoracoamniotic shunting in the treatment of fetuses with severe primary hydrothorax. Methods 22 cases of suspected severe primary fetal hydrothorax which underwent thoraco-amniotic shunting in Shanghai First Maternity and Infant Hospital,Fetal Medicine Unit and Prenatal Diagnosis Center from January 2012 to December 2017 were analyzed retrospectively. Hydrothorax associated with structural or chromosomal abnormalities, infections and immune fetal hydrops were excluded. Results Totally ,28 shunts were placed in 22 fetuses. The median gestational age at TAS was 31.3 weeks. Preterm membrane rupture within 7 days after the procedure occurred in 9.1％(2/22) cases. Catheter displacement occurred in 18％(4/22) cases. The interval from shunting to delivery was 26.0 days. One fetus ended in induced abortion; 21(95％,21/22) babies were born alive, and their median gestational age at delivery was 34.4 weeks. 62％(13/21)newborns required ventilator supports; 4 neonatal deaths were attributed to pulmonary hypoplasia. The overall perinatal survival rate was 81％(17/21). The perinatal survival rate with hydrops and without hydrops were 10/13 and 7/8 respectively. Conclusion Thoraco-amniotic shunting is a safe procedure for intrauterine therapy and could improve the perinatal outcomes of severe primary fetal hydrothorax.

Objective To study and analysis the effect of different doses of sodium phosphate solution in bowel preparation for colorectal treatment in children. Methods 100 patients who underwent colonoscopic polypectomy treated in our hospital from February 2015 to September 2016 were randomly divided into group A and group B, each group of 50 patients each. A group was treated with 2 bottles of cleansing liquid heating boiling water, B group were treated with 1 bottles of cleansing liquid heating boiling water. The therapeutic effects of the experimental group and the control group were compared and analyzed. Results The tolerance of group B was 78.0%, significantly better than that of group A(50.0%), and the difference was statistically significant (P<0.05). The incidence of adverse reactions in group B was 24.0%, significantly lower than that in group A (60.0%), and the difference was statistically significant (P<0.05). In group B, cleanliness was common in 1 patients and poor in cleanliness in 3 patients. In the A group, 1 patients had poor cleanliness and 2 patients had general cleanliness. There was no significant difference between the two groups. Conclusion 1 bottles of sodium phosphate in intestinal cleaning colorectal bowel preparation effect is good, low incidence rate of adverse reaction, greatly improve the intestinal cleanliness, with further clinical promotion and application significance.

Objective To investigate the role of corneal exposure ratio in eyelid aesthetic assessment through the measurement by Photoshop pixel method in beauties and patients with double eyelid blepharoplasty.Methods 30 cases of female beauties and 43 cases with double eyelid blepharoplasty(23 cases with suture method and 20 cases with incision method) underwent measurement of corneal exposure ratio by Photoshop pixel method before operation and half a year after operation.The results were analyzed by SPSS 16.0 and compared between different sides or between pre-and post-operation.Results The corneal exposure ratio was (87.34±4.15)％ on the left side and (87.22±3.77)％ on the right side in the beauties.In the 23 cases with suture method,the pre-and post-operation results were (83.02 ± 4.05)％ and (83.32 ±3.74)％ on the left side,(82.93 ±3.75)％ and (83.85±3.65)％ on the right side.In the 20 cases with incision method,the pre-and post-operation results were (64.05 ±4.53) ％ and(84.93±2.39)％ on the left side,(64.44 ±4.86)％ and (85.09 ±2.77)％ on the right side.Conclusions Corneal exposure ratio plays an important role in the eyelid aesthetic assessment.The measurement of Photoshop pixel method can provide an objective and precise assessment parameter for double eyelid blepharoplasty.

Objective To investigate the role of corneal exposure ratio in eyelid aesthetic assessment through the measurement by Photoshop pixel method in beauties and patients with double eyelid blepharoplasty.Methods 30 cases of female beauties and 43 cases with double eyelid blepharoplasty(23 cases with suture method and 20 cases with incision method) underwent measurement of corneal exposure ratio by Photoshop pixel method before operation and half a year after operation.The results were analyzed by SPSS 16.0 and compared between different sides or between pre-and post-operation.Results The corneal exposure ratio was (87.34±4.15)％ on the left side and (87.22±3.77)％ on the right side in the beauties.In the 23 cases with suture method,the pre-and post-operation results were (83.02 ± 4.05)％ and (83.32 ±3.74)％ on the left side,(82.93 ±3.75)％ and (83.85±3.65)％ on the right side.In the 20 cases with incision method,the pre-and post-operation results were (64.05 ±4.53) ％ and(84.93±2.39)％ on the left side,(64.44 ±4.86)％ and (85.09 ±2.77)％ on the right side.Conclusions Corneal exposure ratio plays an important role in the eyelid aesthetic assessment.The measurement of Photoshop pixel method can provide an objective and precise assessment parameter for double eyelid blepharoplasty.