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Fetal skeletal anomalies are one of the most common and potentially pathogenic developmental abnormalities detected by ultrasound screening. Any suspected fetal skeletal dysplasias often require further comprehensive evaluations.Here 4 families with adverse fetal skeletal system histories were enrolled, including their histories of gestation, childbirth, familial skeletal abnormalities, and pregnancy outcomes. The corresponding diagnosis were done by whole exome sequencing (WES) combined with dynamic examination.All of the families were definitively diagnosed through cytogenetics, molecular genetics, ultrasound, combined with multidisciplinary evaluation. Both of the fetuses in case 1 and case 2 were diagnosed with thanatophoric dysplasia type I, while the neonate in case 3 was diagnosed with Apert syndrome and a 3-years-old proband daughter with Crouzon syndrome in case 4.We conducted karyotyping, copy number variation sequencing (CNV-seq), combined with WES to evaluate genetic conditions of abnormal fetus, neonate or proband patient. WES was preferred to obtain a relatively definitive diagnosis.In cases 1 and 2, the families decided to choose termination of pregnancy due to fatal dysplasias. The couple in case 3, delivered a female baby diagnosed with Apert syndrome. Fortunately, in case 4, the family, which had a 3-years-old baby with Crouzon syndrome, gave birth to a healthy baby through prenatal diagnosis.Invasive prenatal diagnosis and dynamic assessments for the management of fetal skeletal dysplasias could contribute to revealing possible causes of fetal skeletal abnormalities and help clinicians conduct further genetic counseling in clinical practice.

Background: Surgery is the most common and effective therapy for anal fistula, while the postoperative complication, such as pain, edema, pruritus, turgescence, and exudation in surgical wound, can have serious impact on wound healing and patients’ quality of life. Chinese herbal fumigant and lotion have been commonly used in postoperative treatment and achieved satisfied effect in China. However, clinical evidence-based literature of Chinese herbal fumigant and lotion for postoperative anal fistula is not sufficient. This protocol is described for a systematic review to investigate the beneficial effects. Methods: A systematic search will be conducted in database involving PubMed, the Cochrane library, Embase, Web of Science, Google Scholar, SinoMed, China National Knowledge Infrastructure(CNKI), VIP, Wanfang Database, CiNii(National Institute of Informatics), and KISS(Koreanstudies Information Service System) from inceptions to December 31, 2019. We will include randomized controlled trials (RCT) regarding Chinese herbal fumigant and lotion in the treatment of complication in surgical wound of anal fistula. Quality of included RCTs will be assessed according to the Cochrane Handbook 5.1.0. GRADE will be used to assess the quality of evidence. The summary results will be pooled using the random-effects model or fixed-effects model according to the heterogeneity of included studies. Results: After peer-review, the study will be disseminated in scientific journals and conferences. Conclusion: This systematic review will provide evidence for the efficacy of Chinese herbal fumigant and lotion for curing postoperative complication of anal fistula. In addition, it might provide suggestions for Chinese medicine clinical practice or guideline. PROSPERO registration: CRD42020164975.

Rationale: Hemangioblastoma (HB) is a benign tumor that is typically located in the subtentorial region of the brain. HB that originates from dura mater is extremely rare. Patient concerns: Herein, we reported a single case of a patient who presented with dizziness and headache lasting for 1 year that progressively aggravated within 1 month. Diagnosis: After admission, the patient underwent head magnetic resonance (MR); a nodular long T1-T2 signal was found on the right side of parietal falx cerebri; the lesion appeared with high intensity on FLAIR and DWI, and with isointensity on ADC map. In addition, significant homogeneous enhancements were observed on the enhanced scan. According to clinical and imaging features, the lesion was diagnosed as meningioma. However, after performing tumor resection by craniotomy, the diagnosis of HB is clear. Additional pathological examination data were found: Ki-67(+1%), NSE(-), CD31(+), CD34(+), CD56(+), S-100(-), α-inhibin(+), Vimentin(-), EGFR-), GFAP(-), CK-pan(-), EMA(-), PR(-). Interventions: The mass with abundant blood supply was removed. Outcomes: Ten days after operation, the patient was discharged from hospital and no signs of recurrence were observed three months later. Lessons: To sum up, obvious high signal intensity in T2WI sequence and homogeneous enhancement are main characteristics that differentiate dural hemangioblastoma from meningioma lesion.

Background: The traditional Chinese medicine prescription Suhexiang Pill (SHXP), a classic prescription for the treatment of plague, has been recommended in the 2019 Guideline for coronavirus disease 2019 (COVID-19) diagnosis and treatment of a severe type of COVID-19. However, the bioactive compounds and underlying mechanisms of SHXP for COVID-19 prevention and treatment have not yet been elucidated. This study investigates the mechanisms of SHXP in the treatment of COVID-19 based on network pharmacology and molecular docking. Methods: First, the bioactive ingredients and corresponding target genes of the SHXP were screened from the traditional Chinese medicine systems pharmacology database and analysis platform database. Then, we compiled COVID-19 disease targets from the GeneCards gene database and literature search. Subsequently, we constructed the core compound-target network, the protein-protein interaction network of the intersection of compound targets and disease targets, the drug-core compound-hub gene-pathway network, module analysis, and hub gene search by the Cytoscape software. The Metascape database and R language software were applied to analyze gene ontology biological processes and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment. Finally, AutoDock software was used for molecular docking of hub genes and core compounds. Results: A total of 326 compounds, 2450 target genes of SHXP, and 251 genes related to COVID-19 were collected, among which there were 6 hub genes of SHXP associated with the treatment of COVID-19, namely interleukin 6, interleukin 10, vascular endothelial growth factor A, signal transducer and activator of transcription 3 (STAT3), tumor necrosis factor (TNF), and epidermal growth factor. Functional enrichment analysis suggested that the effect of SHXP against COVID-19 is mediated by synergistic regulation of several biological signaling pathways, including Janus kinase/ STAT3, phosphatidylinositol 3-kinase (PI3K)-protein kinase B (Akt), T cell receptor, TNF, Nuclear factor kappa-B, Toll-like receptor, interleukin 17, Chemokine, and hypoxia-inducible factor 1 signaling pathways. SHXP may play a vital role in the treatment of COVID-19 by suppressing the inflammatory storm, regulating immune function, and resisting viral invasion. Furthermore, the molecular docking results showed an excellent binding affinity between the core compounds and the hub genes. Conclusion: This study preliminarily predicted the potential therapeutic targets, signaling pathways, and molecular mechanisms of SHXP in the treatment of severe COVID-19, which include the moderate immune system, relieves the “cytokine storm,” and anti-viral entry into cells.

The evaluation of bone disease in multiple myeloma (MM) is an important topic in imaging. This study retrospectively investigated whole-body diffusion-weighted imaging (WB-DWI) in the evaluation of bone marrow infiltration and treatment response in MM. A total of 126 patients with MM who underwent WB-DWI between January 2016 and December 2020 were enrolled. All the patients received 4-course induction chemotherapy. WB-DWI was performed before and after chemotherapy to measure the apparent diffusion coefficient (ADC) values. According to gender and Revised International Staging System (RISS) staging groups, the relationship between ADC value and bone marrow plasma cell infiltration ratio before treatment were explored using Spearman and Pearson correlation coefficients. Comparison of ADC values before and after treatment according to different chemotherapy regimens and treatment response was performed by 2-independent samples non-parametric tests and t test. There was a negative correlation between the ADC value and the degree of bone marrow infiltration and this was statistically significant (r = –0.843, P

Rationale Hydatid cyst is a disease caused by the larvae of Echinococcus spp. The larvae often reside in the liver, lungs, and brain. Occasionally, a primary isolated thoracic vertebral hydatid cyst is reported to cause severe complications. Various diseases may lead to the development of progressive compressive myelopathy. Herein, we report a rare case of a primary isolated thoracic vertebral hydatid cyst with compressive myelopathy. Patient concerns A 57-year-old female had numbness and weakness in the lower limbs for a span of 3-months. Diagnosis Thoracic magnetic resonance imaging (MRI) showed that an isolated mass was observed in the T5 vertebral body, which compressed the spinal cord. The diagnosis was confirmed after surgical excision, and Echinococcus granulosus was found to be the etiologic factor. Interventions The patient underwent laminectomy with no complications. Outcomes After surgical decompression, the patient made slow and measurable progress. While relatively rare in the non-pastoral area, the primary isolated thoracic vertebral column hydatid cyst may be considered as a possible etiology of atypical extradural spinal compression. Lessons This case illustrates the complexity of spinal echinococcosis manifestations and the necessity of an interdisciplinary approach.

Rationale Some acute myeloid leukemia (AML) patients are unresponsive to treatment or have remission followed by worsening of disease (known as relapsed/refractory AML [R/RAML]) after standardized treatment. The CAG/HAG regimen is not often used clinically because heterogenous patient responses, resistance, and hematopoietic bone marrow dysfunction have been reported with its use. We present 2 cases of R/RAML treated with a new combined therapy (venetoclax+ hypomethylating agents [HMAs]) in which the HAG dose was adjusted and effective in the first course of treatment. Patient characteristics Case 1 involved a 23-year-old man who had suffered from AML for >4 years, and his FLT3 mutation status was positive at the initial diagnosis. After the first course of treatment with the standard-dose "Da" plan, the patient experienced complete remission. During the subsequent courses of treatment, the patient experienced 6 recurrences and was treated with the "ID Ara-C + MIT + sidaaniline" and "CAG + sidaaniline" regimens. However, the disease did not respond. Case 2 involved a 26-year-old man who received chemotherapy with the "Da," "ID Ara-C," "decitabine + half-dose CAG," and "HAE" regimens. In this patients, remission could not be achieved. Reintroduction of the "ia" scheme also failed after treatment in our hospital. Diagnosis Two patients were diagnosed with R/RAML. Interventions The patient in case 2 received chemotherapy interventions, whereas the patient in case 1 refused to receive medical services at our hospital. Outcomes The patient in case 1 was discharged after complete response treatment due to economic reasons and relapsed 2 months later. The patient ultimately died of infection and heart failure. The patient in case 2 is receiving a second cycle of chemotherapy. Lessons We recommend the "venetoclax + HMAs combined with dose-adjusted CAH/HAG" regimen as an effective treatment for adult R/RAML.

Rationale Synovial sarcoma (SS) is a malignant neoplasm that arises from soft tissues proximal to the joints. It occurs primarily at the major joints of the extremities, but may also occur in the deep soft tissues around the joints. While primary renal synovial sarcoma (PRSS) is extremely rare, it is important to have a better understanding of their imaging and clinical features to establish an effective treatment plan. Correct identification of PRSS is also useful for treating renal neoplasms. Patient's concerns A 56-year-old Chinese man was admitted to our hospital due to moderate, paroxysmal left-sided loin pain. Diagnosis Renal enhanced computed tomography (CT) scanning showed a relatively hypovascular lesion with calcification in the left kidney. A radical nephrectomy was performed in the left kidney. Postoperative pathology indicated SS with necrosis. The immunohistochemical findings were as follows: 34βE12 (Epithelium+), Bcl-2(+), CD99(+), CK-pan((Epithelium+), EMA(Epithelium+), Ki-67(+60%), and Vimentin(+), CD34(-). Interventions The patient underwent radical left nephrectomy with no complications. Outcomes After discharge, a close review for 3 months showed no evidence of recurrence. Lessons PRSS should be considered for the differential diagnosis of renal hypovascular tumors. When problems arise in distinguishing renal hypovascular tumors, surgical pathology is helpful in the final diagnosis and further treatment of the disease.

Objective: To evaluate the differences between traditional Chinese medicine combined with western medicine and western medicine alone for the treatment of secondary tuberculosis and its impact on the evaluation of clinical efficacy and safety of patients in randomized controlled trials. Methods: A literature search of all major academic databases was conducted (PubMed, CNKI, Wanfang, VIP). Meta-analysis was conducted using RevMan 5.3 and Stata 12.0 software for those studies that satisfied the inclusion criteria. Ethical approval was not necessary because no people or animals were selected as subjects in this meta-analysis. Results: Twenty-three randomized controlled trials were included in this meta-analysis. The following indicators in the treatment group (traditional Chinese medicine decoction combined with western medicine chemotherapy) improved in comparison with those in the control group:focus absorption rate (RR:1.18; 95% CI: 1.15–1.22);sputum smear negative rate (RR: 1.17; 95% CI: 1.09–1.27);comprehensive clinical effective rate (RR: 1.18; 95% CI: 1.14–1.22);cavity closure rate (RR: 1.37; 95% CI: 1.12–1.67). The difference of Immune function indicator likes CD4+ level (SMD: 0.76; 95% CI: −0.25 to 1.76) between the treatment group and the control group was not significant. In addition, safety evaluation indicators like the decrease rate of white blood cell (WBC) and platelets (PLT) and the elevation rate of alanine aminotransferase (ALT) and uric acid (UA) in the treatment group were reduced compared with those in the control group (P

Rationale:Bronchogenic cysts are mainly benign, congenital abnormalities, originating from the remnants of the primitive foregut. However, intracranial bronchogenic cysts have been rarely observed. Hence, better understanding of the suprasellar bronchogenic cysts is of great significance to

Rationale:Prostate cancer often metastasizes (most commonly to the pelvic lymph nodes and axial skeleton); however, metastases to the pelvic cavity as a solitary mass are unusual. While metastatic prostate cancer is unconventional in pelvic cavity, cystic pelvic lesions are even more scarce.

Left ventricular hypertrophy (LVH) is common in endogenous hypertension (EH). We evaluated annexin A5 (ANXA5) promoter polymorphism in a cross-sectional study with a total of 850 EH patients, including 337 EH patients with LVH. Genotyping of ANXA5 promoter single nucleotide polymorphisms (SNPs) was conducted by SNaPshot assays and statistical analyses were performed to quantify its association with LVH. Of all potential SNPs, rs1050606 showed significant association with LVH (P = .008 in dominant and P = .006 in codominant models, respectively). During further analysis of SNPs on ANXA5 promoter region, rs1050606 had the most prominent effect. Furthermore, haplotypes M2 had higher risk of inducing LVH in EH patients compared with M1 (P = .032, OR = 1.42, 95%CI = 1.03–1.94). Patients with ANXA5 promoter haplotype GATGTC were also more susceptible to LVH (P = .022, OR = 1.35, 95%CI = 1.04–1.74). In the luciferase experiment, ANXA5 rs1050606 had the most promoter activity in myocardial cells (P

The association between dietary vitamin K intake and the risk of fractures is controversial. Therefore we perform a meta-analysis of cohort or nested case–control studies to investigate the relationship between dietary vitamin K intake and the risk of fractures. A comprehensive search of PubMed and EMBASE (to July 11, 2016) was performed to identify cohort or nested case–control studies providing quantitative estimates between dietary vitamin K intake and the risk of fractures. Summary relative risk (RRs) with corresponding 95% confidence intervals (CIs) were pooled by using a random-effects model. Four cohort studies and one nested case–control study, with a total of 1114 fractures cases and 80,982 participants, were included in our meta-analysis. Vitamin K intake in all included studies refers exclusively to the intake of phylloquinone (vitamin K1), which is the predominant form of vitamin K in foods. We observed a statistically significant inverse association between dietary vitamin K intake and risk of fractures (highest vs. the lowest intake, RR = 0.78, 95% CI: 0.56–0.99; I2 = 59.2%, P for heterogeneity = .04). Dose–response analysis indicated that the pooled RR of fracture for an increase of 50 μg dietary vitamin K intake per day was 0.97 (95% CI: 0.95–0.99) without heterogeneity among studies (I2 = 25.9%, P for heterogeneity = .25). When stratified by follow-up duration, the RR of fracture for dietary vitamin K intake was 0.76 (95% CI: 0.58–0.93) in studies with more than 10 years of follow-up. Our study suggests that higher dietary vitamin K intake may moderately decrease the risk of fractures.