IgG4-related disease (IgG4-RD) is a chronic, immune-mediated inflammatory and fibrotic condition that can affect virtually any organ system. While some patients experience involvement of only a single organ, isolated IgG4-RD of the mediastinum is even rarer. This article reports a case of a 48-year-old male patient with isolated IgG4-RD of the middle mediastinum. After a biopsy failed to establish a definitive diagnosis, the patient underwent a right thoracotomy-assisted mediastinal tumor resection via video-assisted thoracoscopic surgery. The tumor was completely resected during the procedure, which lasted 130 minutes, with an estimated blood loss of approximately 50 mL. The patient had a favorable postoperative course and satisfactory clinical outcome. No glucocorticoid or other medical treatment was administered postoperatively, and there was no recurrence during a 6-month follow-up period.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

Objective To investigate the correlation between the imaging manifestations and pathological classification of congeni-tal cystic adenomatoid malformation of the lung(CCAM).Methods A retrospective analysis was conducted on the clinical and radiologic data of nine patients with pathologically confirmed CCAM,and all data were compared with Stocker pathological classification,respec-tively.Results The CT images of all nine patients demonstrated cysts filled with either gas or fluid,which corresponded exactly with their gross pathological outcomes.Four cases of large cystic CCAM(cyst diameter exceeding 2 cm)were consistent with Stocker type Ⅰ.CT findings showed single or multiple capsular cavities occupying the thoracic cavity,with gas or fluid mainly in the cyst.Two cases exhibited mass effect and expansion of the involved lung lobes,while two cases showed localized decreased density around the lesion.The pathological features of these large cystic CCAM included single or multiple thick-walled cysts,with pseudostratified ciliated colum-nar epithelium lining the cyst lumen observed under microscopy.The other five cases of small cystic CCAM(cyst diameter less than 2 cm)matched Stocker type Ⅱ.CT findings showed multiple thin-walled cellular cysts confined to a single lung lobe,and none of these patients had significant mass effect or expansion of the involved lung lobes.Pathologically,these cases were characterized by multiple small cysts with septa,and the cysts were primarily lined with ciliated columnar or cuboidal epithelium upon microscopy.Conclusion CT imaging of CCAM has specific manifestations,with accurately displaying the distribution range and morphological characteristics of the lesions and reflecting the internal histological characteristics.There is a significant correlation between the CT manifestations of CCAM and their pathological classification.

On May 14, 2020, a 37 year old female patient with unilateral breast cancer was admitted to Hunan Cancer Hospital. She underwent modified radical mastectomy for right breast cancer and free transplantation of bilateral superficial inferior epigastric artery perforator flap (weighed 305 g) for breast reconstruction. During the operation, the right inferior epigastric vascular pedicle was anastomosed with the proximal end of the right internal mammary vessel, and the left inferior epigastric vascular pedicle was anastomosed with the distal end of the right internal mammary vessel; the blood flow of the flap was good; the wound in the donor site of the abdominal flap was closed directly. The operation lasted for 9 hours. In the first 48 hours post operation, the flap showed mild elevation in perfusion over drainage, but no obvious edema or blister was observed, flap temperature was consistent with the surrounding skin, and the drainage volume out of drainage tube was only 40 mL. The blood supply of the flap was completely restored to normal 3 days post operation, the flap survived well, the donor site incision had no obvious tension, and the healing was smooth. After 2 months of follow-up, the donor site incision of abdomen healed completely, only linear scar was left, and the reconstructed breast had a natural appearance; the patient planned to perform further nipple reconstruction and contralateral breast mastopexy. This case suggests that autologous breast reconstruction can be performed using bilateral superficial inferior epigastric artery perforator flaps under certain circumstances to minimize donor site injury to the greatest extent.
Female ; Humans ; Adult ; Epigastric Arteries/surgery* ; Perforator Flap/blood supply* ; Breast Neoplasms/surgery* ; Mastectomy ; Unilateral Breast Neoplasms/surgery* ; Mammaplasty

Background: Post - stroke constipation is a commonly seen complication, which can reduce the quality of life of patients. Therefore, it is particularly important to explore the treatment of post-stroke constipation. Aims: To explore the effect of gastrointestinal rehabilitation (visceral fascial manipulation plus middle - frequency electrical stimulation) on quality of life, substance P (SP) and 5-hydroxytryptamine (5-HT) in constipation patients after stroke. Methods: Seventy constipation patients after stroke from Oct. 2020 to Oct. 2011 at Shanghai Tongren Hospital were enrolled and randomly divided into control group (lactulose treatment) and treatment group (gastrointestinal rehabilitation treatment). Montreal cognitive assessment (MoCA), Barthel index (BI), self-rating anxiety/depression scale (SAS/SDS), gastrointestinal symptom rating scale (GSRS), Wexner constipation scale, and patient assessment of constipation-quality of life (PAC-QOL) were performed before and after treatment. Serum SP, 5 - HT were determined by ELISA. Results: After the treatment, no significant difference in MoCA score was found in both two groups, and SAS score, SDS score, GSRS score, Wexner score and PAC-QOL score were significantly decreased (P<0.05). Repeated measures ANOVA showed that significant differences in SAS score, SDS score were found between the two groups (P<0.05), and the decreases of SAS score and SDS score were more obvious in treatment group. No significant differences in MoCA score, BI score, GSRS score, Wexner score and PAC- QOL score were found between the two groups (P>0.05). Serum SP, 5-HT levels in treatment group were significantly higher than those in control group (P<0.05). Conclusions: In the treatment of constipation after stroke, the gastrointestinal rehabilitation therapy of‘visceral fascial manipulation plus middle-frequency electrical stimulation’has the therapeutic effects equivalent to drug therapy, and is worthy for promoting in clinical treatment.

Inflammatory bowel disease (IBD) is a chronic inflammatory disease driven by genetic and environmental factors. Short-chain fatty acids (SCFAs), which are produced by fermentation of dietary fiber by intestinal microbiota, have anti-inflammatory effect and are involved in the maintenance of intestinal homeostasis. Intestinal inflammation and low fiber diet can reduce the number of SCFAs-producing bacteria and thereby affecting intestinal immune and metabolic regulation. This article reviewed the advances in studies on SCFAs in IBD.

Objective: To analyze variants of RUNX2 gene in two pedigrees affected with cleidocranial dysplasia and provide prenatal diagnosis for them. Methods: For the two probands, the coding sequences of the RUNX2 gene were analyzed with PCR and bidirectional Sanger sequencing. To verify the results, peripheral blood samples were collected from their parents and 100 healthy controls. For family 1, umbilical cord blood was also collected for prenatal genetic diagnosis. Results: In family 1, the proband and the fetus both carried a heterozygous c. 578G>C (p.Arg193Pro) mutation. For family 2, the proband was found to carry a heterozygous c. 909C>A (p.Tyr303X) mutation. The same mutations were not found among their parents and 100 healthy controls. Neither mutation was reported previously. Conclusion Variants of the RUNX2 gene probably underlie the cleidocranial dysplasia in both pedigrees. The results enabled prenatal diagnosis for the affected family.

Autoimmune diseases (ADs) increase the risk of non-Hodgkin's lymphoma and contribute to poor prognosis of patients. However, the association between immunologic markers and clinical outcome has rarely been investigated. This study aims to analyze the prognostic value of pretreatment immunologic markers in newly diagnosed patients with diffuse large B-cell lymphoma (DLBCL). We retrospectively reviewed the data on 502 patients with DLBCL treated in our institution from January 2013 to March 2018. Survival functions were estimated using Kaplan-Meier method and Cox regression model. The 3-year progression free survival (PFS) and overall survival (OS) rates were 70.2% and 80.9%, respectively, and the complete remission (CR) rate was 78.1%. Among the patients, those with multiple ( ⩾ 3) abnormal immunologic markers had significantly shorter 3-year PFS (52.7% vs. 77.3%, P < 0.001) and OS (68.5% vs. 85.8%, P = 0.001) than those without multiple abnormal immunologic markers. Multivariate analysis revealed that the presence of multiple abnormal immunologic markers and the elevated serum levels of lactate dehydrogenase were the independent adverse prognostic factors for PFS (P = 0.008, P < 0.001) and OS (P = 0.003, P < 0.001). Meanwhile, advanced Ann Arbor stage was an independent adverse prognostic factor for PFS (P = 0.001) and age > 60 years for OS (P = 0.014). In conclusion, the immunologic status was closely related to lymphoma progression, and this study provides new insights into the risk stratification of patients with DLBCL.
Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Biomarkers ; China ; Disease Progression ; Female ; Humans ; Immunotherapy ; methods ; Lymphoma, Large B-Cell, Diffuse ; mortality ; therapy ; Male ; Middle Aged ; Multivariate Analysis ; Prognosis ; Retrospective Studies ; Survival Analysis ; Survival Rate ; Young Adult

Objective: To investigate the correlation between cord blood IgE level and allergic diseases (atopic dermatitis, food allergy, wheezing and allergic rhinitis) in 36 months old children and explore the susceptibility factors of allergy. Methods: A cohort study was designed and Cord blood was collected during delivery of 779 women with full term, and the IgE level of the sample was detected by chemiluminescence immunoassay in Department of Laboratory Medicine, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine between October 1, 2012 and May 31, 2014. 638 children were followed up at the age of 36 months. The incidence of atopic dermatitis, food allergy, wheezing and allergic rhinitis were investigated by questionnaire, and the relationship between cord blood IgE level and allergic diseases in children was analyzed by multiple logistic regression. Results: A total of 638 pregnant women and children were included in this study. The age of pregnant women was (29.7±3.3) years, and the IgE level in cord blood ranged from 0.1 to 8.43 IU/mL.In caesarean women, higher cord blood IgE was associated with increased risk of allergic dermatitis, wheezing and allergic rhinitis in children, OR=1.87, P<0.01; OR=1.86, P=0.01; OR=1.28, P=0.01; OR=1.98, P=0.01. Conclusion During cesarean section, the elevated IgE level of umbilical cord blood is correlated with the incidence of allergic diseases in children.