Objective To summarize the clinical,radiographic and genetic features of a family with metatropic dysplasia,in order to improve the level of understanding and diagnosis of this disease.Methods The proband,a one-year old boy,was diagnosed as metatropic dysplasia.His mother was 26 years old with mildly phenotype.Their clinical features and bone X-ray findings were analyzed.The DNA samples of the proband and his parents were collected.The coding exons and flanking introns regions of transient receptor potential vanilloid 4 (TRPV4) gene were amplified by polymerase chain reaction (PCR) and analyzed by DNA automatic detector.The pathology,diagnosis,treatment and prognosis were expounded.Results The symptoms of the boy were characterized by short extremities,a short trunk with progressive kyphoscoliosis,and craniofacial abnormalities that include a prominent forehead,midface hypoplasia,and a squared-off jaw.His motor development was slightly delayed.Mental development was normal.Bone X ray of the boy showed platyspondyly and severe metaphyseal enlargement with shortening of long bones and irregularities and delayed ossification of epiphysis.The patient and his mother were heterozygous for the nucleotide substitutions c.2396 ＞ T (p.P799L) in TRPV4 gene.Conclusions The patient and his mother with metatropic dysplasia were diagnosed with TRPV4 gene analysis.The patient showed typical clinical features.His mother was mild.Metatropic dysplasia had significantly clinical heterogeneity.Gene analysis is helpful for the diagnosis.

Aged ; Ethmoid Sinus ; pathology ; Female ; Humans ; Nasal Polyps ; complications ; Oculomotor Nerve Diseases ; complications ; Sphenoid Sinus ; pathology

Vascular endothelial growth factor (VEGF) is an endothelial cell-specific mitogen.Studies have shown that VEGF is closely associated with ischemic stroke,and this makes it possible to intervene in ischemic stroke from the level of VEGF and its receptor.This article reviews the biological effect of VEGF and its receptor,mechanism of action involving in various stages of ischemic stroke,and the therapeutic prospect in ischemic stroke.

Animals ; Anti-HIV Agents ; pharmacology ; HIV ; drug effects ; genetics ; physiology ; HIV Infections ; drug therapy ; immunology ; virology ; Humans ; Mucous Membrane ; immunology ; virology ; Virus Replication ; drug effects

Objective To investigate the association between polymorphism of HLA-DRB1 allele and systemic sclerosis (SSc) and scleroderma-associated renal damage in Han Chinese of Henan Province.Methods Eighty-one SSc patients and 90 normal controls were recruited in this study,among them 59 patients had renal damage (SRD).The genotyping was carried out by nest PCR-SBT and gene clone.Comparisons between groups were performed with x2 test or exact probabilities.Multivariable Logistic regression was used to evaluate the association between prevalence of SSc or SRD and the possible relevant alleles.Results Thirty-three HLA-DRB1 alleles were discovered from the specimens,including 27 in SSc specimens,and 22 in SRD.Among them,the allele frequencies of HLA-DRB1 * 040501 (8.64％), * 110101 (11.11％), * 150201(8.02％) were higher in SSc patients than those of the controls (1.67％,4.44％,2.22％ respectively).After adjusted for other factors,HLA-DRBl * 040501 (P=0.010,OR =5.839,95％CI:1.518-22.460)、* 110101(P=0.019,OR=3.060,95％CI:1.204-7.772)、* 150201(P=0.010,OR=4.780,95％CI:1.444-15.821 )were identified as independent risk factors for SSc.And the allele frequencies of HLA-DRB1*040501 (9.32％),* 150201 (7.63％) were higher in SRD patients than those of the controls (1.67％,2.22％ respectively).After adjusted for other factors,HLA-DRB1 * 040501 (P=0.008,OR=6.363,95％CI:1.614-25.087) and * 150201 (P=0.030,OR =4.043,95 ％CI:1.147-14.243 ) were identified as independent risk factors for SRD.Conclusion Our data suggest that HLA-DRB1 * 040501,* 110101,* 150201 may be susceptible genes for SSc and the HLA-DRB1 * 040501,* 150201 may be susceptible genes for SRD in Han Chinese of Henan Province.

Objective To analyze the clinical and immunological manifestations of antiphospholipid syndrome(APS)in a cohort of 100 patients.Methods The clinical and serologic features of APS(Sapporo preliminary criteria)in 100 patients were analyzed retrospectively.Results The cohort consisted of 79 female patients and 21 male patients witb a mean age of 36?13 years at diagnosis.Primary APS was presented in 37% of patients;APS was secondary to systemic lupus erythematosus(SLE)in 46%,lupus-like syndrome in 14%. Eighty percent of the patients had thrombosis,43(54%)patients had venous thrombosis,18(22%)had arterial thrombosis,15(19%)had both arterial and venous thrombosis.4(5%)had thrombosis of microcirculation. Forty-two(52%)patients presented thrombosis at a single site,26(32%)at two sites,12(15%)at three or more sites.Forty-five(56%)patients experienced one thrombotic episode,20(25%)patients had only one re- currence,and 15(19%)had more thrombosis.The most common manifestations of thrombosis were deep vein thrombosis(36%),pulmonary embolism(30%)and stroke(26%),with heart,kidney,gastrointestinal tract and other organs involvements.Thirty-four(51%)female patients had spontaneous fetal losses including intrauter- ine fetus death and recurrent spontaneous abortion.Seventy-one(71%)patients developed thromboeytopenia. The presence of antieardiolipin antibody(ACL)was detected in 84 patients(84%).Among 90 patients with APS,alone ACL was detected in 38 patients(42%),both ACL and lupus anticoagulant(LA)were detected in 36(40%),LA alone in 16(18%).Patients with APS associated with SLE or lupus-like syndrome had higher frequency of arthritis,leukopenia,antinuclear antibodies(ANA)and low complement levels.Female patients had a higher frequency of leukopenia,ANA and ACL.Male patients had a higher prevalence of deep venous thrombosis in the lower limbs and LA.Conclusion APS is an autoimmune disorder characterized by recurrent arterial and venous thrombosis,fetal loss,or thrombocytopenia with the presence of ACL and/or LA.In APS secondary to with SLE,the patient's sex can modify the disease expression and define specific subsets of APS.

Purpose Polypoid endometriosis is an uncommon and distinctive variant of endometriosis, and its detailed histopathological features have been investigated and analysed. Methods A retrospective analysis was performed in 10 cases with polypoid endometrio-sis by comparing clinical data, histopathologic and immunohistochemical changes. Results The patients were 27 to 54 years ( mean 39. 4 years) of age. The most common clinical presentations were a pelvic mass. The intraoperative findings suggested a neoplasm. Sites of involvement in order of frequency included ovary, uterine serosa and cervix. Polypoid, pink, gray or tan masses ranged up to 9 cm in maximal dimension. On microscopic examination, the polypoid masses were composed of an admixture of endometriotic glands and stroma. Most commonly glandular architectural patterns were simple hyperplasia. Tubal epithelial metaplasia was common. The stroma was fibrous, resembling to some extent the stroma of the endometrial polyp and atypical stromal cells can be seen. Nine cases were associated with usual endometriosis. Follow-up data in nine patients indicated that all of patients were alive without evidence of re-sidual disease. The main lesion in the differential diagnosis is a mullerian adenosarcoma. Conclusion Polypoid endometriosis is a rare manifestation of endometriosis, and probably is overgrowth of local ectopic endometrium based on endometriosis. Understanding of such lesions is avoided misdiagnosing for other benign or malignant tumors on clincal, intraoperative or pathologic assesment, and influ-ences the clinical treatment.

Objective To study the clinicopathologic characteristics and differential diagnosis of T-cell immunophenotype in intestinal non-Hodgkin's lymphoma(NHL).Methods The clinicopathologic characteristics of 13 cases with intestinal T-cell lymphoma were analyzed by light microscopy and immunohistochemistry(Envision detection method).Results The lesions of 8 cases with T-cell lymphoma were found on the small intestine and 5 on the colon.Grossly,8 cases showed ulcer pattern,3 polypoid pattern and 2 presented as a regional thickening of intestinal wall.The tumor cells were medium to large size with pleomorphic nuclei and inflammatory background.The neoplastic lesions expressed the immunophenotype of peripheral T cells.The neoplastic cells of 13 cases(100%)expressed leukocyte common antigen(LCA);10(76.9%)cases expressed CD3;9(69.2%)CD45RO;5(38.5%)EB virus(EBV);3(23.1%)CD56 and 2(15.4%)vimentin(VIM).All the cases were negative for CD20,CD79a,CK,CDX2,NSE,CgA and CD117.ConclusionIntestinal T-cell lymphoma is a rare,aggressive neoplasm with poor prognosis and should be distinguished from other malignant tumors of intestine.

Animals ; Cells, Cultured ; Hepatocytes ; drug effects ; secretion ; Male ; Pancreatic Polypeptide ; pharmacology ; Rats ; Rats, Sprague-Dawley

Dendritic Cells ; cytology ; immunology ; virology ; HIV ; physiology ; HIV Infections ; immunology ; Humans ; Immunity, Mucosal ; immunology ; Mucous Membrane ; cytology ; immunology ; Virus Attachment ; Virus Internalization