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1.
Annals of Dermatology ; : S79-S83, 2023.
Artigo em Inglês | WPRIM | ID: wpr-976675

RESUMO

Subcutaneous panniculitis-like T-cell lymphoma (SPTL) is an extremely rare, indolent skin malignancy that can be difficult to distinguish from autoimmune disease-associated panniculitides. Here, we describe a 12-year-old boy who was diagnosed at age 7 years with dermatomyositis with classical manifestations, including poikiloderma, Gottron’s sign, and symmetric muscle weakness. Recently, the boy presented multiple subcutaneous nodules and fever. Histopathological examination and immunohistochemical staining revealed coexistence of SPTL. To our knowledge, this is the first case of dermatomyositis accompanied with SPTL. This case alert clinical physicians of the possibility of SPTL should be considered when a patient with dermatomyositis has new lesions presenting as nodules and unknown fever.

2.
Chongqing Medicine ; (36): 933-937, 2018.
Artigo em Chinês | WPRIM | ID: wpr-691891

RESUMO

Objective To observe the changes of corresponding proteins and function based on known clinical dihydroorotate dehydrogenase(DHODH) mutation types,i.e.,G202A,R346W and R135C in the patients with Miller syndrome.Methods HeLacell lines stably expressing Miller syndrome pathogenic mutation types G202A,R346W and R135C were established.Then the mitochondrial localization function,protein stability and enzyme activity of corresponding proteins were studied by the immunohistochemistry and mitochondrial layered positioning.Results The mitochondrial localization function of 3 kinds of DHODH mutation were not affected,which existed in the mitochondrial inner membrane after expression.The mutant G202A and R346W protein stability was reduced;the mutant R135C protein was stable,but base induced enzyme activity injury caused the deficiency of corresponding enzymatic activity.Conclusion The DHODH function injury may be related with the symptoms in Miller syndrome.

3.
Chinese Journal of Laboratory Medicine ; (12): 409-413, 2010.
Artigo em Chinês | WPRIM | ID: wpr-379878

RESUMO

Objective To develop allele specific oligonucleotide(ASO) -PCR assay based on TCR βgene rearrangements and provide a screening method for minimal residual disease (MRD) in adult patients with T-lineage acute lymphoblastic leukemia (T-ALL).Methods DNA samples from newly diagnosed 20 adult T-ALL patients were obtained.The TCR β gene rearrangements were detected by multiplex PCR,which included 38 paired of primers in 3 reaction tubes.Gel electrophoresis and two-color Gene Scanning was also applied for clonality analysis of TCR β followed by sequencing and subsequent blasting for monoclonal PCR products in four patients.ASO primers were designed based on the sequence of junction regions.MRD were detected in the bone marrow by RQ-PCR with ASO upstream primers, consensus Jβprobes and downstream primers.Results The detection rate of the clonal TCR β rearrangements was 85.0% (17/20).At least one complete Vβ-Jβ rearrangement could be detected at the time of diagnosis in 16 out of 17 patients(94.1%, 16/17).Incomplete Dβ-Jβ rearrangement could be detected in 7 patients (41.2% ,7/17).The positivitity rate of Vβ-Jβ to Dβ-Jβ was 2∶1 (94.1% versus 41.2% ).Two-color Gene Scanning analysis showed the Jβ2 family was used more frequently than the Jβ1 family (73% versus 27% ).The slopes of the standard curves ranged from - 3.60 to - 3.27.The correlation coefficients of all four standard curves were more than 0.99.The detection sensitivity of ASO-PCR was 4 × 10 -5 μg/μl.The fluorescence background were detected at a low level.Quantitative MRD values of TCR β rearrangement in sequential BM specimens of 4 adult T-ALL patients were monitored during the treatment, including complete remission after induction and after consolidation therapy. RQ-PCR showed the MRD values of TCR β rearrangement were gradually decreased in response to the treatment.Conclusions The quantification of TCR β rearrangement by ASO-PCR approach is sensitive, specific and reliable for the accurate evaluation of malignant clones.It is suitable for the monitoring of minimal residual disease of adult T-ALL patients.

4.
Fudan University Journal of Medical Sciences ; (6): 422-426,444, 2009.
Artigo em Chinês | WPRIM | ID: wpr-571728

RESUMO

To stury the pharmacokinetie of tramadol and aeetaminophen in healthy volunteers. Methods Totally 20 healthy adult male volunteers participated in the study were randomly assigned to 2 treatment groups and were given respectively the dose of one and two pills by oral administration. Serum was separated and the concentrations of tramadol and acetaminophen in human serum were determined by HPLC using fluorescence and UV detector. The values of concentration were directly detected, and AUC was calculated by linear trapezoid method. Results The main pharmacokinetie parameters of tramadol and acetaminophen of 2 dosages groups were as follow: Tramadol: AUC_(0-24h)(ng · h· mL~(-1)) were 2 724. 89 ± 1 016.54 and 1 361.61 + 441. 79; AUC_(0-∞)(ng·h·mL~(-1)) were3 065.49±1 190.66 and 1 555.04±582.51; t_(max)(h) were 1.8±0.75 and 1.9±0.57; t_(t/2)(h) were 7.34±1.39and7.63±2.02; Kel(h~(-1)) were 0. 098±0. 019 and 0. 097± 0.027; Cl_r(mL · min~(-1)) were 31.84±13.65 and 30.03 ± 9.20; MRT(h) were 7.62 ± 1.07 and 7.77 ± 0.75. Acetaminophen. AUC_(0-24h)(μg · h · mL~(-1)) were 40.28 ± 10.36 and 18.37 ± 3.84 ; AUC_(0-∞)(μg · h · mL~(-1)) were 41.63 ± 10. 96 and 18. 81 ± 4.06; t_(max)(h) were 0. 9 ± 0.46 and 0. 9 ± 0. 39; t_(t/2)(h) were5.39 ± 1. 16 and 4. 96 ± 1.03; Kel(h~(-1)) were 0. 13 ± 0. 03 and 0. 15 ± 0. 03; Clr (mL · min~(-1)) were 17.17 ± 4.57 and 18.42 ± 3.89; MRT(h) were 4.86 ± 0.48 and 4.50 ± 0.53. Conclusions No significant difference in pharmacokinetic parameters, such as t_(max), t_(t/2), Ke,Cl, MRT,AUC_(0-t)/dose, AUC_(0-∞)/dose and C_(max)/dose are shown between these two dose groups and a linear pharmacokinetic is featured.

5.
Chinese Journal of Dermatology ; (12): 448-450, 2009.
Artigo em Chinês | WPRIM | ID: wpr-394136

RESUMO

Objective To perform a DNA-based prenatal diagnosis in a family with recessive dys-trophic epidermolysis bullosa, and to develop a strategy to eliminate matemal cell contamination in arnniotic fluid samples. Methods Amniocentesis was carried out at gestation week 16, amniotic fluid culture was used to separate fetal cells from maternal blood cells. Peripheral blood was obtained from the proband, and her parents. Genomic DNA was extracted from peripheral blood and aminotic cells. Subsequently, PCR and direct sequencing were performed to detect pathogenic mutations in the COL7A1 gone. Karyotype analysis was used to confirm paternal information in amniotic fluid. Linkage analysis between micro-satellite markers was performed to confirm the fetal genotype. Resulta Centrifugation showed visible contamination of aminotic cells by blood cells. Direct sequencing revealed that the proband was a carrier of both maternal mutation, R525X in exon 12, and paternal mutation, R2610X in exon 105, while the fetus only carried the maternal mutation, R525X. The second direct sequencing and hapiotype analysis after elimination of mater-nal blood cells by amniotic fluid culture confirmed that the fetus was a carrier of maternal mutation with nor-real phenotype. The pregnancy continued and a clinically unaffected girl was born at gestation week 40.Conclusion The accuracy of DNA-based prenatal diagnosis could be improved by the combination of direct sequencing, amniotic fluid culture, karyotype analysis and linkage analysis, etc.

6.
Chinese Journal of Dermatology ; (12): 644-646, 2008.
Artigo em Chinês | WPRIM | ID: wpr-398528

RESUMO

The patient is an 11-year old boy, who was born with universe alopecia as well as dry and coarse skin. When he was 3 months old, photophobia was noticed, and since then, upper respiratory tract infection had occurred twice a month complicated by frequent diarrhea. He had short stature with slight conjunc- rival congestion, corneal vascularization, opacity, coarseness and poor vision. No abnormality was found in the teeth, sweating ability, or hearing. He had universal alopecia; his skin was dry and rough with generalized rhombus- or polygon-shaped scaly patches. Particularly thick brown scales were observed on the upper limbs. Moreover, there were spiny follicular papules on the abdomen and axillae, hyperkeratosis of palm and sole, and dystrophic nails. Hyperextensibility of proximal interphalangeal joints of the third, fourth and fifth fingers was noticed. He also suffered from mental retardation, the verbal intelligence quotient being 52, performance intelligence quotient lower than 40, full intelligence quotient lower than 40, but no abnormality was found in the heart, lung, liver or spleen. Histopathology of skin on the abdomen suggested a change characteristic of ichthyosis. Chromosome analysis revealed a karyotype of 46, XY. This is the first diagnosed case of ichthyosis follicularis with atrichia and photophobia syndrome in China.

7.
Chinese Journal of Internal Medicine ; (12): 389-392, 2008.
Artigo em Chinês | WPRIM | ID: wpr-400381

RESUMO

Objective To investigate the clinical and laboratory features of acute promyelocytic leukemia (APL).Methotis 513 APL patients in the last two decades were retrospectively analyzed in this research.We investigated the clinical features including age,sex,abnormality of peripheral hemogram before treatment.therapeutic effect and follow-up and laboratory data such as morphology,immunology,cytogenetics and molecular biology(MICM).Results The median age of the APL patients was 33 years old and the ratio of male and female was 1.21:1.Before treatment,the median level of WBC was 4.3×109/L and the deteetion rate of abnormal promyelocyte on blood film was 85.8%;with immunophenotypie detection,the expression levels of CD117、CD34、HLA-DR、CD7、CD14 and CD19 in APL were found to be lower and the expression 1evels of CD2、CD33 and MPO higher than those in other subtypes of acute myelocytie leukemia(AML)(beth P<0.01).Specific abnormal chromosome t(15;17)was detected in 91.7%of the patients,of whom 75.9%had standard translocation of t(15;17),being the most common one and 15.8% of the patients had t(15;17)with additional abnormal chromosome.There was only 7.5%of the patients with nolnlal karyotype.However,the presence of both simple translocation and complex translocation was seldom seen.With molecular biological detection.PML/RARα fusion gene positive rate was 99.6%.In a relativelv long clinical follow-up,we found that the complete remission(CR)rate in APL patients was 84.7%.incidence of DIC was 13.4%and five-year survival rate was 30.7%.111e median count of WBC in CR group was lower than that non-remission group(P<0.01).There were no significant differences on expressions of CD34 and CD2 and changes of cytogenetics between the two groups(P>0.05).Conclusions Comprehensive evaluation of MICM could be of important significance in the diagnosis and prognosis iudgrnent for APL patients.The CR rate in these patients with high WBC eount was considerable low.

8.
Chinese Journal of New Drugs and Clinical Remedies ; (12): 159-162, 2001.
Artigo em Chinês | WPRIM | ID: wpr-410983

RESUMO

AIM: To evaluate the bioequivalence of domestic and imported anastrozole tablet.  METHODS: According to the crossover design, each volunteer was orally given anastrozole tablets (1 mg). GC determined the drug concertrations in plasma. The linear ranges was from 0.5 to 200.0 μg*L-1 plasma (r=0.9997, n=9). The recovery rates of lower, mid, higher concentration (1.0,10.0,20.0 μg*L-1 plasma were 93.50 %, 100.17 %,98.96 % respectively. Inter-day and intra-day precisions of the method were <13 %.  RESULTS: The pharmacokinetic parameters of the domestic and imported tablet were 1.2 h±0.5 h and 1.3 h±0.4 h for T max, 10 μg*L-1±3 μg*L-1 and 10.2 μg*L-1±2.5 μg*L-1 for Cmax, 386 μg*L-1±117 μg*L-1 and 385 μg*L-1±117 μg*h-1*L-1 for AUC0-T,36 h±14 h and 32 h±10 h for T1/2 respectively. The relative bioavailability of the domestic tablet was (100±9) %.  CONCLUSION: Domestic and imported anastrozole tablet are bioequivalence in healthy volunteers.

9.
Journal of Practical Radiology ; (12)2000.
Artigo em Chinês | WPRIM | ID: wpr-536379

RESUMO

Objective To discuss real time three-dimensional reconstruction techniques of spiral CT in the detection of tracheoesophageal groove lymph node metastasis and its diagnostic value.Methods Spiral CT RT3D reconstruction of the supraclaviculrar region were applied to 45 patients with scanning and post-processing on the workstation.Mediastinum,color in chest,clip planes 3D images were obtained by adjusting the CT value threshold and encoding pseudo color techniques.Results RT3D images can correctly reveal the macroscopic morphology of lymphatic metastasis and it's pressure to the trachea and carotid artery.There were significant differennces of visualization capabilities of radiological signs among different 3D techniques.Conclusion With the utilization of multiple methods,RT3D reconstruction can play an important role in detecting tracheoesophageal groove lymph node metastasis of esophageal cancer.It is an important complement to the axial CT images and the basis of clinical treatment.

10.
Chinese Journal of Radiology ; (12)1999.
Artigo em Chinês | WPRIM | ID: wpr-552254

RESUMO

Objective To evaluate the appl ication of CT perfusion in intra-axia l disease. Methods By applying a nuclear medicine data processi ng technique to the time-density data obtained from dynamic CT, cerebral tissue perfusion was p e rformed in 8 cases, 4 with normal findings, 2 with ischemic cerebrovascular dise ase, and 2 with gliomas. Cerebral blood perfusion maps was created and analyzed, absolute regional cerebral blood volume, regional cerebral blood flow, and mean transit time were determined and analyzed as well. Results Wit h regard to var ious degrees of perfusion impairment within the ischemic territory, thus giving rise to a very heterogenous appearance. As a rule, the center of a lesion usuall y representing the core of ischemia showed marked reduction of blood flow. At th e outer margin of a tumor area, the reduction of CBF and CBV was often less pron ounced, indicating some residual flow via collaterals, as was confirmed by the b olus delay on the time to peak time. Conclusion In the near fut ure, functional imaging techniques should have a major impact on therapeutic decision-making i n acute stroke patients, perfusion CT may be recommended even now for emergency applications in daily patient care due to its practicability.

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