Objective To investigate pathogenesis, clinical and pathological feature of a case of nemaline myopathy and review of relevant researches. Methods A ease of an 8-year-old girl with muscle weakness and her clinical presentation, family history, changes of serum enzymology and EMG, characteristic of light and electron microscopic studies were described. The earlier literature and new genetic findings concerning these muscle abnormalities are also briefly summarized. Results Nemaline myopathy is diagonosed by clinical manifestation and observed result of electron microscopy. Conclusions Muscle biopsy is the only way to diagnose nemaline myopathy and electron microscopy plays an important role in diagnosing it.

Objective To observe the neuroprotective role and its mechanism of estrogens in male Sprague-Dawley rats with focal cerebral ischemia. Methods The rats were randomly divided into three groups: E2-pretreat group, E2+TAM (tamoxifen)-pretreat group and control group. The models of cerebral ischemia were maded by occlusion middle cerebral artery using an intraluminal filament method. 2 and 24 hours after focal cerebral ischemia, the neurological deficit scores and the death rate of rats were evaluated. 2,3,5-triphenyltetrazolium chloride (TTC) stain was used to assess the volume of infarction. Terminal transferase dUTP nick ending labeling (TUNEL) and immunohistochemistry were carried to observe neuron apoptosis and the expressions of Bcl-2, Bax and p53. Results Compared with control group, the volumes of infarction, death rates, neurological deficit scores and the numbers of neuron apoptosis both at 2 and 24 h were significantly decreased in E2-pretreated group (all (P

Objective:To explore features and relevant influencing factor of ecological executive function in children with childhood absence epilepsy (CAE).Methods:Forty children with CAE (CAE group) and 40 healthy children with physical examination (control group) from April 2017 to July 2020 in Anhui Provincial Children′s Hospital were selected. The behavior rating inventory of executive function (BRIEF) parental questionnaire was used to evaluate the executive function of children. The differences of ecological executive function between 2 groups were compared.Results:The BRIEF total score, behavioral regulation index (BRI) and metacognition index (MI) in CAE group were significantly higher than those in control group: (52.03 ± 10.89) scores vs. (44.05±5.06) scores, (49.45 ± 9.93) scores vs. (43.85 ± 4.70) scores and (53.18 ± 11.24) scores vs. (44.95 ± 5.32) scores, and there were statistical differences ( P<0.01). Multiple stepwise regression analysis result showed that inhibit inhibition, shift, emotional control, initiation, working memory, planning, organization, monitoring, MI and total score were correlated with disease control ( P<0.01), and disease control had a negative predictive effect on them ( R2 = 0.174, 0.158, 0.234, 0.325, 0.383, 0.337, 0.378, 0.199, 0.463 and 0.435); BRI was correlated with onset age and disease control ( P<0.01 or <0.05), and onset age and disease control had a negative predictive effect on BRI ( R2 = 0.336). Conclusions:Children with CAE have ecological executive dysfunction. The control of the disease and the onset age are the main factors affecting the ecological executive function.

Objective:To investigate the expression of CXCL1 2 and CXCR4 in adenoid cystic carcinoma(ACC)and to explore its re-lationship with clinicopathologic characteristics and prognosis of the patients.Methods:The expression of CXCL1 2 and CXCR4 in af-fected tissue was detected immunohistochemically in 62 cases of ACC.Both of the two factors and clinicalpathology factors were pro-cessed in accordance with the Kaplan-Meier method and the COX regression model.Results:The positive rates of CXCL1 2 and CX-CR4 expression were 54.8%(34/62)and 77.42%(48/62)respectively.Patients with the 2 factor expression had a shorter survival time than those without them(P<0.05).Multivariate analysis revealed that CXCR4 expression,clinical stage,histological differentia-tion and metastasis/recurrence were independent risk factors for the prognosis of ACC patients.Conclusion:The expression of CXCR4 may be correlated with the malignancy of ACC.CXCR4 expression,clinical stage,metastasis/recurrence and histological differentia-tion can indicate the prognosis of ACC patients.

Adult ; Endocarditis ; complications ; Endocarditis, Bacterial ; complications ; Heart Defects, Congenital ; complications ; Humans ; Male ; Pulmonary Valve ; microbiology

Objective To study the gene mutations and clinical features of mandibuloacral dysplasia with type A lipodystrophy (MADA) in a Chinese family. Methods The information of 5 family members including 2 siblings suspected atyp-ical progeria was assembled. Genomic DNA was extracted from peripheral blood of 5 family members, the 12 exons of LMNA gene were ampliifed by PCR and then the PCR products were directly sequenced and analyzed by using Blast software online. The SIFT and PolyPhen-2 software were used to predict the harmfulness of mutations. Results The 2 siblings were clinically diagnosed as MADA. Heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations were detected in this family. The father carried c.1583C>T (p.Thr528Met) mutation, the mother carried c.1579C>T (p.Arg527Cys) mutation, and their normal daughter were all heterozygous carriers with c.1583C>T (p.Thr528Met) mutation. Compound heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations in 2 siblings led to MADA. The MADA showed an autosomal re-cessive inheritance pattern in this family. Conclusions The 2 siblings with MADA in this family were caused by compound heterozygous mutations in LMNA gene.

Purpose:To investigate the relationship between cell apoptosis and dephosphorylated RB protein in human breast cancer. Methods:In our work,human breast cell lines (MCF-7/S,the chemosensitive cell line and MCF-7/ADR,the chemoresistent cell line)were evaluated. Chemosensitivity of two cell lines was evaluated by the MTT colorimetric assay;the expressive levels of dephosphorylated RB protein were detected with immunocytochemistry. Apoptosis rates were determined by flow cytometry(FCM). Results:ADR inhibited proliferation of chemosensitive cell line MCF-7/S ,the 50% inhibition concentration (IC 50 ) was 0.128 ?g/ml;And IC 50 of MCF-7/ADR was 10.89 ?g/ml. The chemotherapeutic sensitivity of MCF-7/S was more than that of MCF-7/ADR by 86 times . Before treatment with ADR,phosphorylated RB protein was positive in two cell lines,but dephosphorylated RB protein was negative;After treatment of different concentration ADR,when the concentration of ADR was increased,expression of dephosphorylated RB protein elevated accordingly in MCF-7/S,but no significant change in MCF-7/ADR. Apoptosis and cell cycle was detected by FCM assays shows ADR induced apoptosis of MCF-7/S more than MCF-7/ADR(P0.05).

A 19-year-old Chinese woman presented with progressive ulcers and recurrent fever for 1 year.The lesions originally began with purplish red maculopapules,then rapidly developed into ulcer with severe pain and spread to the trunk and extremities accompanied by intermittent fever.Histopathology revealed lymphoid infiltration of middle and large atypical T cells throughout the dermis and subcutaneous fat laver along with focal epidermotropism.The lymphoid infiltrates were positive for CD3,CD8,T-cell intercellular antigen(TLA)and T-cell receptor β(TCR-β).Gene analysis showed the rearrangement of T-cell receptor gene.According to the above findings,the patient was diagnosed as primary cutaneous aggressive epidermotropic CD8-positive cytotoxic T-cell lymphoma. Combined thempy with cyclophosphamide,vincristine,prednisone and bleomycin resulted in partial remission of skin lesions,but she eventually died 22 months after the onset of disease.

The pharmacokinetics and content of 3H11-8H-HPD in tumor, liver, skin and muscular of tumor-bearing nude mice were reported and compared with free 3H-H'PD. The conjugated molar ratio of 3Hll-3H-HPD was 1 : 27. The 97% antibody activity of conjugate was retained. After 3Hll-3H-HPD or 3H-HPD iv into tumor-bearing nude mice, the pharmacokinetics parameter of blood-drug concentration indicated that the T1/2 of conjugate group was longer than that of 3H-HPD, the elimination rate constant ( Kel ) of conjugat group was larger than that of 3H-HPD group, but the aparent volume of distribution ( Vd ) of the former was less than that of the latter. Tissue distribution study reveald that the radioactivity in tumor tissue of conjugate was increased average 0.9 fold than that of 3H-HPD group. Tumor/liver ratio in both 3Hll-3H-HPD group and 3H-HPD group were 0.66 ? 0.24 and 0.42?0.20, respectively. Contents of 3Hll-3H-HPD in skin or muscular were decreased average 1 fold than that of free 3H-HPD, respectively. The study result was shown the pharmacokinetics characteristic of large molecule conjugate and the targeting action of monoclonal antibody.

Objective To examine aortic dissection by using T1W/TFE sequence and to observe the imaging characteristics of aortic dissection in T1W/TFE sequence. Methods Twenty patients confirmed as aortic dissection by CT and ultrasound received MRI scanning of T1W/TFE sequence on inclined sagittal and SE sequence on transaxial at Philips Gyroscan 1.5 MR imager. The signal changes of aortic dissection in T1W/TFE sequence were observed. Results In T1W/TFE sequence, we observed not only an intimal flap, a double lumen and range of aortic dissection, but also the site of intimal tear and thrombus in the false lumen. Conclusion By using T1W/TFE sequence we obtained the high quality image of aortic dissection and high contrast of imaging. Combined with SE sequence , T1W/TFE sequence can provide reliable information for analyzing and curing aortic dissection in clinic.