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Objective:To observe the distribution ratio of histiocytic necrotizing lymphadenitis(HNL) in the age of children, evaluate glucocorticoids and Hydroxychloroquine therapeutic effects, evaluate the meaning of lymph node excisional biopsy.Methods:The data of 70 cases of patients with the lymph node excisional biopsy in Tianjin Children′s Hospital from December 2010 to August 2019 were retrospectively analyzed.and summarized the treatment experience and prognosis.Results:HNL mostly occurs in children 7-12 years old.The male-female ratio was 1.12∶1.00, but over 13 years old was 0.6∶1.0.Eighteen point one six percent (13 cases) of HNL was relieved after the lymph node excisional biopsy.Thirty-five cases were treated with non-steroidal anti-inflammatory drugs (NSAIDs), and only 10 cases (14.2%) were improved with NSAIDs alone and the rest were improved in combination with glucocorticoids.Four patients with ineffective glucocorticoids therapy were improved in combination with Hydroxychloroquine.Conclusion:HNL in children was more common in school-age children.For children under 13 years old, the incidence among boys is slightly higher than that among girls; for children above 13 years old, the incidence among boys is slightly lower than that among girls.Lymph node biopsy is still the gold standard for diagnosis and is conducive to remission.The course of disease is self-limited, for the cases that NSAIDs is poor, the glucocorticoid treatment should be used.For refractory cases, combined Hydroxychloroquine treatment can be used.
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Objective@#To summarize the diagnosis, clinical manifestations, treatment and prognosis of congenital cystic lung lesions.@*Methods@#A retrospective study described the clinical course of 96 patients (46 female and 50 male) diagnosed with congenital cystic lung lesions treated at the Tianjin Children′s Hospital from January 2010 to March 2019. The clinical findings, imaging examinations, pathological findings, treatment and follow-up were analyzed.@*Results@#Totally 96 patients (aged from 4 days to 13 years) with congenital cystic lung lesions were included in this study. Eighty-six patients (90%) were diagnosed when they had cough and fever symptoms. Forty (42%) patients exhibited congenital cystic adenomatoid malformation, 30 underwent surgical excision, two were at emergency operations and one dead. There were 12 (13%) patients with pulmonary sequestration and four were surgical treated. Twelve (13%) patients with bronchogenic cyst were included and 4 were surgically treated. There were 3 (3%) patients with congenital lobar emphysema and one was surgically treated. Another patient with pneumothorax was operated in other hospital 2 months after discharge. Twenty-nine (30%) patients with unclassified congenital cystic lung lesions could not be definitively diagnosed by CT. Some of them were difficult to be distinguished from necrotizing pneumonia. Finally, 2 patients were diagnosed as necrotizing pneumonia after 6, 10 months follow-up. After operation 37 out of 39 patients recovered well.@*Conclusions@#The diagnosis of congenital pulmonary cystic disease depend on imaging and pathological examination. Most patients are diagnosed when they have respiratory tract infection. The main clinical manifestations are cough and fever. The prognosis of operative management is good.
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OBJECTIVE@#To explore the characteristics of differentially methylated genes and gene ontology associated with neural tube defects (NTDs).@*METHODS@#Twelve subjects from 3 NTDs pedigrees were enrolled. Patients with NTDs have served as the case group, while their family members with normal phenotypes have served as the control group. Genomic DNA was extracted from peripheral venous blood samples of the families and used for DNA methylation analysis. Pairwise comparison was carried out primarily for patient-offspring pairs, and co-segregation of methylation pattern with NTDs was analyzed. Pathway related to differentially methylated genes was predicted with DAVID software.@*RESULTS@#Pairwise comparison indicated that VTRNA2-1 was the only gene in which all CpG sites were methylated. Co-segregation of VTRNA2-1 gene methylation with NTDs was found in all pedigrees. Pathways of hypermethylated genes included plasma membrane component, regulation of cellular protein metabolic process, and regulation of actin cytoskeleton organization, while the pathways of hypomethylated genes have included transcription regulator activity, cell adhesion, and neuronal differentiation.@*CONCLUSION@#Methylation of the VTRNA2-1 gene has co-segregated with NTDs in the studied pedigrees. The pathways of differentially methylated genes has involved with mechanism of neural tube development.
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Humans , CpG Islands , DNA Methylation , Gene Ontology , MicroRNAs , Genetics , Neural Tube Defects , Genetics , PedigreeABSTRACT
Objective To investigate the correlation between neural tube defects (NTDs) and DACT1 gene, and provide the basic data for disease diagnosis and genetic counseling. Methods Blood samples were obtained from 163 NTDs patients and 480 unrelated healthy individuals. Mutation detection of DACT1 gene and DNA direct sequencing was carried out by PCR amplification. Bioinformatics analysis of these mutated loci was performed. Results Six mutations were found in NTDs patients, including 4 missense mutations (p.R45W, p.D142G, p.N356K and p.V702G). But these mutations were not found in 480 healthy individuals. Three mutated amino acid residues (p.45R, p.142D and p.356N) were highly conservative in evolution, and the mutated carriers were female patients, and suffered from anencephaly. Conclusion DACT1 gene mutation may be a risk factor of NTDs in Han population of northern China.
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Objective To observe the effects and safety of adrenocorticotropic hormone (ACTH) combined with Huaiqihuang on frequent relapse nephrotic syndrome (FRNS) in children. Methods Fifty-five child patients with FRNS were divided into control group, which was given glucocorticoid (GC) to maintain the treatment (group A, n=10), Huaiqihuang group (group B, n=17), ACTH group (group C, n=14) and ACTH combined with Huaiqihuang group (combined treatment group, group D, n=14). Continuous treatment was for 12 months. The GC treatment doses, the levels of basal secretion of adrenal cortex and adrenal cortex reserve were recorded at 6-month and 12-month respectively. And the recurrence rate and adverse reactions were observed in four groups. Results After 6-month treatment, the doses of GC were significantly lower in group C and group D than those in group A and group B (P0.05). After treatment for 6 months and 12 months, the recurrence rates of nephrotic syndrome were significantly lower in group C and group D than those of group A and group B (P<0.05). Conclusion The simple application of ACTH and the combination of Huaiqihuang can relieve the inhibition of long-term using GC on hypothalamic pituitary adrenal axis in FRNS patients.
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Objective To characterize the expressions of androgen receptor (AR) and estrogen receptor (ER) in penis skin of patients with congenital hypospadias. Methods Dorsal prepuce, ventral prepuce, and urethral plate were harvested from 30 patients with congenital hypospadias. The expressions of AR and ER in epidermal cells and dermal fibroblasts were assessed respectively by automated immunohistochemistry. Image Pro plus 6.0 was used to analyze the optical density (OD) value of AR and ER in different parts of epidermal cells and dermal fibroblasts. Results AR and ER were located mainly in nucleis of the squamous basal cells and prickle cells, and were also found in nucleis of subcutaneous fibroblast cells. The expression of AR was lower in epidermis of urethral plate than that of dorsal prepuce and ventral prepuce (P<0.05), but no significant difference was detected in dermal fibroblasts. The expression of ER was higher in epidermis of dorsal prepuce than that of urethral plate and ventral prepuce (P<0.05). The dermal expression of ER in fibroblast cells was increased successively in dorsal prepuce, ventral prepuce and urethral plate (P<0.05). Conclusion Lower expression of AR in urethral plate may contribute the development of hypospadias. Disorder of ER in dermal fibroblast cells of prepuce may play an important role in hypospadias.
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Objective To investigate the expression and function of transforming growth factor (TGF)-β1 and Smad2 in liver fibrosis of biliary atresia (BA). Methods Liver biopsy specimens were collected from autopsy (normal group, n=5), congenital biliary dilatation (CBD group, n=10), BA patients underwent Kasai procedure (early hepatic fibrosis group, n=19) and liver transplantation (transplantation group, n=11). The first three groups were collected from January 2010 to July 2014 in Tianjin Children’s Hospital, and the last group was collected from January 2013 to January 2014 in Tianjin First Central Hospital. The hematoxylin and eosin (HE) stain were used to observe the degree of liver fibrosis of four groups. Immunohistochemistry (IHC) was used to observe expressions of TGF-β1 and Smad2 in liver tissues of these samples. Quantitative real-time polymerase chain reaction (qRT-PCR) was used to test the quantitative mRNA of TGF-β1 and Smad2 in these samples. Results Results of HE showed that no fibrosis in autopsy group, mild fiber cell hyperplasia in CBD group, severe fibrosis in Kasai group and significant pseudolobule in transplantation group. Results of IHC showed that TGF-β1 was expressed in the cytoplasm of hepatocytes, bile duct cells, lymphocytes and neutrophils. The average optical density of TGF-β1 was the highest in Kasai group compared with that of other three groups (P 0.05). Results of qRT-PCR showed that both TGF-β1 mRNA and Smad2 mRNA were the highest in early hepatic fibrosis group than those of CBD group and transplantation group (P<0.017). Conclusion In early stage of BA, TGF-β1 and Smad2 promote liver fibrosis until the formation of P-P,P-C desmosome structure. However, with BA fibrosis becomes more serious, the pro-fibrogenic function of TGF-β1 and Smad2 becomes less.
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Objective To investigate the effects of adrenocorticotropic hormone (ACTH)combined with Huaiqihuang on hypothalamic pituitary adrenal (HPA) in rats. Methods Fifty rats were randomly divided into five groups according to the random number table method:normal control group (group A), prednisone group (group B), Huaiqihuang group (group C), ACTH group (group D) and combined treatment group (group E) with 10 rats in each group. Rats in group B, C, D and E were gavaged by acetic acid prednisone water solution 12.5 mg/(kg · d) for 4 weeks to establish HPA axis suppression model. Group A was given distilled water 10 mL/(kg·d) as control. Rats in group C and E were gavaged with Huaiqihuang 5 g/(kg·d) 30 minutes after intragastric administration of prednisone acetate. At the third week of the experiment, group D and E were subcutaneous injected with ACTH 200 μg/(kg·d). The serum cortisol levels were measured respectively at the start of the ex?periment, 2 weeks and 4 weeks of experiment. Animals were sacrificed at the end of the experiment, and then weights of the pituitary, adrenal glands and the viscera index were calculated. The pathological changes of the pituitary and adrenal glands were observed by HE stainning. Results After 2 weeks, the serum cortisol levels were significantly lower in group B, C, D and E than those of group A (Pgroup D>group C (P<0.05). At the same time, the weights of pituitary and adrenal gland and the viscera in?dex were higher in the three groups than those of B group (P<0.05). The HE staining showed that there were no significant changes in the distal part of the pituitary gland in five groups. The adrenal cortex zona was thinning and the structure was dis?ordered in group B. There were different degrees of hyperplasia in group C, group D, and group E, which was the most obvi?ous in group E. Conclusion ACTH combined with Huaiqihuang can promote adrenal cortex zona hyperplasia and cortisol secretion, which reduces the glucocorticoid induced inhibition of HPA axis in rats.
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Purpose To study the values of liver histopathological assessment grading score in differential diagnosis between biliary atresia ( BA) and infantile hepatitis ( IHS) . Methods Thirty four cases of BA and sixteen cases of IHS were analyzed retrospectively, which were diagnosed by biopsy. A hepatic histopathological assessment grading score was developed. This consisted of eight features such as cholestasis, hepatocellular damage, bile duct proliferation, portal edema, portal inflammation, portal fibrosis, extramedullary hemopoiesis and multinucleated giant hepatocytes. The total scores were 24 points. All the cases were assessed one by one. Results The total scores of BA were significantly higher than that of IHS (P<0. 001). The frequencies of bile duct proliferation, portal fibrosis and portal edema were significantly higher in BA than that in IHS group, while the frequency of multinucleated giant hepatocytes was significantly higher in IHS than that in BA group. Conclusions This scoring system is helpful in differentiating BA from IHS.