Hydroa vacciniforme-like cutaneous T cell lymphoma: a case report and literature review / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features, diagnosis and therapy of hydroa vacciniforme-like cutaneous T cell lymphoma.</p><p><b>METHODS</b>The clinical presentations and the findings of laboratory examinations and skin biopsy of affected tissue in a child with hydroa vacciniforme-like cutaneous T cell lymphoma were retrospectively reviewed.</p><p><b>RESULTS</b>The child manifested as rash, fever and lymph node intumesce. Rash was pantomorphia, including edematous erythema, vesicles, crusts, necrosis and depressed scar, and it was mild in winter and severe in summer, mainly involving in the face and extremities. Epstein-Barre virus (EBV)-IgM was positive. Histopathological findings revealed focal lymphocyte invasion in subcutaneous panniculus adiposus, mainly surrounding the blood vessels. Immunohistochemistry showed CD3 (+), CD43 (+), CD20 (-), pax-5 (-), TIA (+), CD5 (+), CD8 (+), Granmye (+) and CD4 (-). The clinical symptoms were improved after glucocorticoid treatment in this child.</p><p><b>CONCLUSIONS</b>Hydroa vacciniforme-like cutaneous T cell lymphoma has special clinical manifestations. This disorder may be definitely diagnosed by skin biopsy of affected tissue and immunohistochemistry assay. Glucocorticoid treatment is effective. EBV infection may be related to the development of this disorder.</p>

Case Report of Mixed Connective Tissue Disease Complicating Pulmonary Hypertension and Its Literature Review / 实用儿科临床杂志

Objective To investigate the diagnosis and treatment of mixed connective tissue disease(MCTD)complicating pulmonary hypertension(PAH) in childhood in order to improve the recognition of this disease.Method According to the symptoms,signs,past history,labratory examinations,the child′s disease was diagnosed and treated,and the relative literature was reviewed.Results The main symptom of the child was interruptable apsychia.Ultrasound showed severe PAH,positive of anti-RNP antibody.After given immunosuppressant and decreased PAH,the patient′s condition was more improved.Conclusions MCTD complicating PAH in childhood onstes delitescently,and it′s difficult to diagnose.Recognition should be elevated to diagnose and treat it earlier.The prognosis can be improved.

Expression of Intercellular Adhesion Molecule-1 in Brain Edema Induced by Lipoposacchride in Rats under Action of Dexamethasone / 实用儿科临床杂志

Objective To explore the expression of intercellular adhesion molecule-1(ICAM-1) in the brain edema induced by lipoposacchride(LPS) in rats under the action of dexamethasone.Methods One hundred and fifty healthy SD rats were randomly divided into three groups of 50 each:normal saline group(NS group),LPS group and dexamethasone group(DXM group).Each group were again divided into 5 groups:4,6,12,24 and 48 h group.Brain edema was induced by LPS.Immunohistochemistry staining methods were used to measure the expression of ICAM-1 in brain tissue of brain edema induced by LPS in rats.And the level of evans blue(EB) was aslo determined.Results At each time point,the content of brain tissue and evans blue(EB) in LPS and DXM group all increased significantly than those in NS group(Pa0.05).In LPS group,brain water content and EB content,expressing quantity of ICAM-1 and brain water content,expressing quantity of ICAM-1 and EB content all had positive relationship(r=0.537,0.467,0.549 Pa

Relationship between Spondyloppiphyseal Dysplasia Tarda Gene Escaping X Chromosome Inactivation and Spondyloppiphyseal Dysplasia Tarda Phenotype / 实用儿科临床杂志

Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.

Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing / 中华儿科杂志

<p><b>OBJECTIVE</b>X linked spondyloepiphyseal dysplasia tarda (SEDL) is heritable osteochondrondysplasia characterized in affected males by disproportional short stature with short neck and trunk resulting from a growth defect of the vertebral bodies, accompanied by barrel chest and degenerative osteoarthropathy of hip joints. This progressive skeletal dysplasia is caused by the SEDL gene located approximately 100 kb centromeric of DXS16 at Xp22. The disorder usually manifests in late childhood without systemic complications, and generally female carriers of SEDL are asymptomatic. So the diagnosis of potential carriers and presymptomatic patients is almost impossible. This study aimed to establish methods of gene diagnosis for finding out potential carriers and presymptomatic patients.</p><p><b>METHODS</b>The blood samples were collected from 21 individuals in a large Chinese pedigree with SEDL. Microsatellite marker DXS16 was selected for linkage analysis. In order to confirm the allele of DXS16 linked to the pathogenic SEDL gene, polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) were used to examine the variability of the lengths of DXS16, and linkage analysis was performed for the diagnosis of potential carriers and presymptomatic patients. Then the pathogenic mutation of the SEDL gene in the family was identified by bi-directionally direct sequencing of PCR products amplified for each of the four coding exons as well as their exon/intron boundaries. The potential carriers and presymptomatic patients were also diagnosed in this way.</p><p><b>RESULTS</b>Six young individuals (IV(14), IV(19), IV(21), IV(23), V(4), V(7))who wanted to know whether they were carriers or presymptomatic patients were diagnosed by linkage analysis. Four females of them (IV(14), IV(19), IV(21), V(7)) were determined being carriers because they carry the allele of DXS16 which links the pathogenic SEDL gene, and the other two (IV(23), V(4)) being normal individuals for their alleles of DXS16 linked with wild SEDL gene. DNA sequencing identified that the pathogenic mutation of SEDL gene in the family, which was a nucleotide substitution of the splice-acceptor site in intron 2, IVS2 -2 A-->C. This is a novel mutation in the SEDL gene. Four female individuals (IV(14), IV(19), IV(21), V(7)) carried the mutation; individuals IV(23) and V(4) carried the wild SEDL gene. The results of diagnosis of linkage analysis coincide completely with that of DNA sequencing.</p><p><b>CONCLUSION</b>Linkage analysis is a simple, rapid and inexpensive gene diagnosis method for SEDL and its accuracy was the same as DNA sequencing. Each of linkage analysis and DNA sequencing can be used to diagnose SEDL, which is very helpful for finding potential carriers and presymptomatic patients.</p>

Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level.</p><p><b>METHODS</b>In two patients, four exons comprising the SEDL open reading frame as well as their exon/intron boundaries were analyzed by bi-directional direct sequencing of PCR products. The sequencing results were compared against the normal sequences in GenBank to find the mutation. Then the mutation was identified in other members of the family.</p><p><b>RESULTS</b>A nucleotide substitution of the splice acceptor in SEDL intron 2, IVS2 -2A-->C,was detected in two affected individuals (IV(15) V(3)) in the Chinese family with SEDL, but no sequence change occurring on exons 3-6 was detected. The transversion was also identified in four heterozygous carriers. The mutation was not found in two unaffected male individuals and fifteen normal controls. Furthermore, four potential carriers were identified in the family.</p><p><b>CONCLUSION</b>The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the disease. Molecular diagnosis can be made by detecting the mutation.</p>

Expression of Macrophage Inflammatory Protein 2 in Brain Edema Caused by Lioposacchride in Rats / 实用儿科临床杂志

Objective To study the expression of macrophage inflammatory protein 2(MIP-2) and the interfering effects of naloxone in the brain edema caused by lioposacchride (LPS)in rats.Methods Eithty-four SD rats were randomly divided into 3 groups:normal saline group(NS group,n=28) 0.2 mL normal saline was injected by carotid into each rat;LPS group(n=28) with 200 ?g LPS;naloxone interfering group(NAL group,n=28)1 mg/kg naloxone was intraperitoneally injected at 10 min,1,2,6,12 h and following LPS injected 2 h before decapitation.The content of MIP-2 and even blue(EB) in brain tissue were detected at different time point.The brain water content was measured by drying method.Results The content of water and EB in LPS group were significan higher than those in NS group(P

Effect of Ganciclovir in Young Children Hospitalized with Severe Rotavirus Enteritis and Longitudinal Change of Rotavirus Excretion / 实用儿科临床杂志

Objective To study the effect of injection ganciclovir in infants with rotavirus disease.Methods According to age (6 months to 2 years) and typical clinical symptoms in combination with etiologic evidence of rotavirus, 76 patients within 2 days after onset were selected as study subjects. These young children were randomly assigned to two groups according to the hospitalized order.Treated group received intravenous administration of ganciclovir 5～10 mg/(kg?d) once daily for 3 days while control group didn′t receive any antivirus drugs. Rotavirus testing by ELISA on stool samples was performed for every patient on admission and the third day after treatment. Stool sample was collected to a clear box every day in patients with positive results until the reaction was negative.Results The total effective rate after treatment was 88.1% and 61.8% in treated group and the controll group, respectively. There was significant difference between these two groups(?2=20.42 P