Objective To study the diagnosis and treatment of retroperitoneal schwannoma.Methods Clinical data of 11 cases of primary retroperitoneal schwannomas were analyzed retrospectively from February 1990 to September 2014.There were 6 males and 5 females,with a median age of 46 years,and the median tumor size was 9.6 cm (4.5-12.3 cm).Seven cases were revealled due to physical examination,3 cases were revealled due to ipsilateral lower back pain or discomfort,and 1 case was revealled due to right lower extremity numbness.There were no clinical manifestations of hypertension or appearance shape change,and there were no abnormal findings in routine laboratory and endocrine examinations.Radiological examination showed a retroperitoneal mass.There were 3 cases in the left adrenal gland,1 case in the right adrenal gland,3 cases in the lower pole of left kidney and 4 cases in the lower pole of right kidney.Four patients were initially diagnosed as adrenal tumors,and 7 patients were diagnosed as kidney tumors.Results All the 11 cases underwent surgical resection,with 7 cases of complete resection,1 case of capsule resection,2 cases of partial resection and 1 case of biopsy.The pathology of immunohistochemical staining showed S-100 positive in 10 cases of benign retroperitoneal schwannomas.During the follow-up period for 1.5-24 years (median 14 years),no recurrence and malignance was observed.One case of malignant retroperitoneal schwannoma died of multiple metastases in 17 months after opreation.Conclusions Primary retroperitoneal schwannoma is rare and preoperative diagnosis is difficult.Clinical manifestations and radiological findings are usually nondiagnostic,and histopathology is the only way for final diagnosis.Complete surgical resection is proved to be the best choice.

Objective To investigate the clinical features,diagnosis,treatment and prognosis of bladder hemangio-ma. Methods The clinical data of 12 patients with bladder hemangioma were retrospectively reviewed and analyzed in com-bination with relevant literature. Results Ten patients were treated with partial cystectomy,and two patients treated with transurethral resection of bladder tumor (TUR-BT). All patients were diagnosed as the bladder hemangioma by postoperative pathology. Patients were followed up from 4 months to 6 years. There were no recurrence and metastasis in all cases. Conclu-sion Bladder hemangioma is a rare benign tumor, which can be preliminarily diagnosed by combinating with medical imag-ing. The final diagnosis depends on the pathological examination. Treatment options should rely on the factual situations. The partial cystectomy is the first choice for the treatment of bladder hemangioma. The prognosis is good.

Aim To explore the protective effects of dl-praeruptorin ( Pd-Ia) against acute lung injury induced by lipopolysaccharide ( LPS ) .Methods Acute lung injury model was induced by intranasal instillation LPS, and Pd-Ia was administered by intraperitoneal in-jection after 1 h of LPS exposure .Lung tissue samples were collected after 24 h of LPS administration to in-vestigate the role of Pd-Ia in acute lung injury .Results Pathomorpholoy showed a marked improvement of in-flammatory cell infiltration in Pd-Ia treated group , cel-lular staining also indicated a marked decrease of in-flammatory cells in BALF, and quantitative PCR and ELISA revealed a significant inhibition of cytokine IL-6,TNF-α, IL-1β, and chemokine MIP-1α, MIP-2 ex-pression .Pd-Ia attenuated LPS-induced histological se-verities and TNF-α, IL-6, IL-1β,MIP-1αand MIP-2 production .Conclusion Pd-Ia can alleviate the lung injury by ameliorating inflammation in lung .

OBJECTIVETo investigate the chemical constituents of the leaves of Aquilaria sinensis, and provide a certain of basis for the comprehensive uses of the plant of A. sinensis.

METHODThe chemical constituents were isolated by various column chromatographic method. The structures were identified by spectral analyses of NMR, MS, et al.

RESULTThirteen compounds were isolated and identified as 7-hyroxy-5, 4'-dimethoxy flovone (1), 5-hydroxy-7, 4'-dimethoxy flavone (2), luteolin-7-3',4'-trimethyl (3), isocorydine (4), 4-hydroxybenzoic acid (5), triacontenoic (6), hentriacontane (7), alpha-stigmasterol (8), epifriedelanol (9), friedelan (10), friedelin (11), genkwanin (12), 5, 4'-dihyroxy-7, 3'-dimethoxy flovone (13).

CONCLUSIONCompound 4 was obtained from this genus for the first time, compounds 1, 6-11, 13 were obtained from this species for the first time.

Vascular cognitive impairment(VCI)is a group of syndromes ranging from mild cognitive impairment to dementia caused by cerebrovascular disease,due to the lack of sensitivity and specific biomarkers,it is difficult to identify and diagnose early.Abnormal connectivity is observed in brain regions of patients with vascular cognitive disorders,locates mainly in the default mode network(DMN),and changes in their abnormal functional connectivity correlated with the degree of patients' cognitive impairment.Resting-state functional magnetic resonance imaging(rs-fMRI)is a commonly used method to detect the internal activity of the brain at resting state.The use of various rs-fMRI to study abnormal changes in the DMN in patients with VCI is useful to further investigate the pathogenesis of VCI and provide an objective basis for imaging.This article mainly reviews the application of rs-fMRI in the DMN in patients with VCI,bringing new perspectives for the correct diagnosis and assessment of VCI.

Objective To observe the hematological toxicity of 89SrCl2 in patients with multiple bone metastases of malignant tumors,and analyze the related-risk factors.Methods A total of 89 patients (63 males,26 females;age:(62.3±5.2) years) with multiple bone metastases and treated with 89SrCl2 were enrolled.Hematological data at 2 and 4 weeks after treatment with 89SrCl2 were analyzed.Common Terminology Criteria for Adverse Events (CTCAE) v4.03 was used to evaluate the hematological toxicity,and the influencing risk factors were analyzed.Logistic regression analysis was used to analyze the data.Results The incidences of grade Ⅰ-Ⅱ anemia,leukopenia and thrombocytopania at 2 and 4 weeks after treatment were 15.7％(14/89),18.0％(16/89),11.2％(10/89) and 18.0％(16/89),24.7％(22/89),18.0％(16/89),respectively.The incidences of grade Ⅲ-Ⅳ anemia,leukopenia and thrombocytopenia were 2.2％(2/89),0,0 and 2.2％(2/89),2.2％(2/89),3.4％％(3/89),respectively.Logistics multivariate analysis showed that the number of bone metastases and the Hb level before treatment were independent effect factors for hematological toxicity of 89SrCl2,with odds ratio (OR) values of 2.200(95％ CI:1.269-3.841) and 0.961 (95％ CI:0.932-0.991),respectively.Conclusions Serious hematological toxicity after 89SrCl2 treatment is rare.The number of bone metastases and the Hb level before treatment are independent effect factors for hematological toxicity.

Objective:To investigate the clinicopathological features, classification, and genetic characteristics of common lymphatic malformation (CLM) in superficial soft tissue.Methods:A retrospective study of 110 patients with the diagnosis of CLM at the Henan Province People′s Hospital, China from August 2019 to August 2022 was performed. The clinicopathological features, relevant immunohistochemical (IHC) staining results, and fluorescence quantitative PCR of PIK3CA mutation were analyzed, and patients were followed up.Results:Among the 110 CLM patients, there were 53 males and 57 females; 65 cases (65/110, 59.1%) were first detected when the patients were≤2 years old. The most common location was the head and neck in 41 cases (41/110, 37.3%). Clinically, 102 cases (102/110, 92.7%) were solitary, 83 cases (83/110, 75.5%) were skin-colored, 69 cases (69/110, 62.7%) had indistinct borders, and 10 cases (10/110, 9.1%) had diffuse and severe macroscopic manifestations. There were 52 macrocystic type (52/110, 47.3%), 23 microcystic type (23/110, 20.9%), and 35 combined type (35/110, 31.8%). The macrocystic CLM presented as soft, translucent masses with large cystic cavities on the cut surface, and histologically they were composed of large, irregularly dilated channels that were thicker with irregular smooth muscle and lymphocytic infiltration. Microcystic CLM showed wartlike projections or translucent blisters on the skin, with small honeycomb structures on the cut surface, and histologically consisted of round or angular dilated small lymphatic vessels with little or no smooth muscle. The combined CLM had both macrocystic and microcystic morphologies. IHC staining showed that the lymphatic endothelial cells were positive for LYVE-1, D2-40, PROX1, CD31, and VEGFR3 but negative for CD34; in the macrocystic and combined CLM vessel walls were positive for SMA. Eight of 13 CLM had PIK3CA mutation. All patients were followed up, and 24 (24/110, 21.8%) had relapses, which more frequently occurred in combined type, followed by microcystic type.Conclusions:CLM is a congenital vascular malformation composed of dilated, abnormal lymphatic channels, with PIK3CA mutation. There are significant differences in clinicopathological characteristics among the different types. Since microcystic and combined CLM are prone to recurrence, accurate pathological subtyping is necessary to guide treatment and to predict prognosis.

Objective To explore the key initiatives and effective methods for preparing the constructions of emergency-oriented hospitals under COVID-19 pandemic. Methods The wartime mechanism was strengthened by adhering to unified leadership, trengthening the top-level design and clarifying the division of responsibilities. Objective management was used as a means to take into account the key of personnel allocation and training, prevention and control of hospital infection, transformation of contagious ward, logistic support, equipment and material supply and construction of system and process. Results The preparations and constructions of the emergency-oriented hospitals were completed in 72 hours，which passed the acceptance and inspections from infection control experts，who appraised our work to be “the highest in difficulty, the fastest in project progress and the highest in quality". Totally, upon to the preparations，14 medical teams were set up and the layout process reestablishment of 14 wards was completed, the installation and preparation of nearly 10000 sets/pieces of medical equipment and medical materials were completed as well and more than 80 work systems and process systems for 9 major modules were established. Conclusion The preparations and constructions of emergency-oriented hospitals should be performed upon the thorough implementation of the decisions and arrangements by the municipal Party committee and the municipal government, insisting on the wartime thinking and establishment of high-quality management team and effective goal management focusing on details and actual needs of medical staff.

OBJECTIVE: To explore the genetic etiology of Vici syndrome in a Chinese family. METHODS: Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents. RESULTS: The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging. CONCLUSION The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Aged ; Agenesis of Corpus Callosum ; Autophagy-Related Proteins ; Cataract ; Female ; Humans ; Mutation ; Pregnancy ; Vesicular Transport Proteins/genetics* ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic basis for a fetus with dysgenesis of corpus callosum and other brain malformations. METHODS: Whole exome sequencing was carried out for the fetus and its parents. Suspected pathogenic variants were verified by Sanger sequencing. RESULTS: A novel de novo missense variant c.758T>A (p.L253Q) of the TUBB2B gene was identified, which was unreported previously. Based on the guidelines from the American College of Medical Genetics, the c.758T>A variant was predicted to be likely pathogenic. Bioinformatics analysis predicted that the leucine at position 253 was highly conserved among various species, and the c.758T>A variant may impact the formation of hydrogen bonds between Leu253 and Asp249 and Met257 residues, which in turn may affect the combination of GTP/GDP and function of the TUBB2B protein. CONCLUSION The c.758T>A variant of the TUBB2B gene probably underlay the fetal malformations in this Chinese family. Above discovery has enriched the spectrum of TUBB2B gene variants and provided a basis for genetic counseling and prenatal diagnosis.
Brain ; Female ; Fetus/abnormalities* ; Humans ; Malformations of Cortical Development/genetics* ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Whole Exome Sequencing