OBJECTIVE: To study the clinical features of children with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, a polygenic and multifactorial autoinflammatory disease with unknown pathogenesis. METHODS: A retrospective analysis was performed on the medical data of 13 children with PFAPA syndrome. RESULTS: All 13 children had disease onset within the age of 3 years, with a mean age of onset of (14±10) months. They all had periodic fever, with 8-18 attacks each year. The mean interictal period of fever was (30±5) days. Pharyngitis, cervical adenitis, and aphthous stomatitis were the three cardinal symptoms, with incidence rates of 100% (13/13), 85% (11/13), and 38% (5/13) respectively. There were increases in white blood cells, C-reactive protein, and erythrocyte sedimentation rate during fever. Of all the 13 children, 6 underwent whole exome sequencing and 7 underwent panel gene detection for autoinflammatory disease, and the results showed single heterozygous mutations in the CONCLUSIONS For children with unexplained periodic fever with early onset accompanied by pharyngitis, cervical adenitis, aphthous stomatitis, elevated inflammatory indices, and good response to glucocorticoids, PFAPA syndrome should be considered. This disorder has good prognosis, and early diagnosis can avoid the long-term repeated use of antibiotics.
Child ; Child, Preschool ; Fever/etiology* ; Humans ; Infant ; Lymphadenitis/diagnosis* ; Pharyngitis/drug therapy* ; Pyrin ; Retrospective Studies ; Stomatitis, Aphthous/genetics*

OBJECTIVETo investigate the expression of the T cell-specific transcription factors T-bet/GATA-3 in recurrent aphthous ulcerations (RAU).

METHODSPeripheral blood mononuclear cells (PBMC) were isolated by density gradient centrifugation from RAU patients and healthy controls. Expressions of T-bet and GATA-3 mRNA and protein in the PBMCs were detected by reverse transcription-polymerase chain reaction (RT-PCR) and Western blot respectively. The concentrations of gamma-interferon (gamma-IFN) and interleukin-4 (IL-4) in the serum were determined by enzyme-linked immunosorbent assay (ELISA).

RESULTSThe expressions of T-bet mRNA were 0.73 +/- 0.14 in the control group and 0.12 +/- 0.04 in the recurrent aphthous ulcerations group, the levels of T-bet protein expressions were 0.73 +/- 0.18 in the control group and 0.24 +/- 0.09 in the recurrent aphthous ulcerations group, there was a significant difference between the two groups (P < 0.01). The levels of GATA-3 mRNA expressions were 0.89 +/- 0.11 in the control group and 1.30 +/- 0.13 in the recurrent aphthous ulcerations group; GATA-3 protein expressions were 1.09 +/- 0.16 in the control group and 1.80 +/- 0.16 in the recurrent aphthous ulcerations group, there was a significant difference between the two groups (P < 0.01). In the control group, the concentration of gamma-interferon in the serum was (22.15 +/- 1.52) ng/L, which was significantly elevated compared with that in the recurrent aphthous ulcerations group (16.32 +/- 0.22) ng/L (P < 0.01), in the control group, the concentration of IL-4 in the serum was (25.58 +/- 2.59) ng/L, which was significantly lower than that of the recurrent aphthous ulcerations group (43.60 +/- 3.15) ng/L (P < 0.01). The ratio of gamma-IFN and IL-4 was positively correlated with the ratio of T-bet and GATA-3 mRNA and protein expression (r = 0.96, 0.94, P < 0.01).

CONCLUSIONSImbalance of transcription factors T-bet and GATA-3 may be one of the key factors in immune dysregulation of recurrent aphthous ulcerations.

Adolescent ; Adult ; Female ; GATA3 Transcription Factor ; genetics ; metabolism ; Gene Expression Regulation ; Humans ; Male ; Middle Aged ; RNA, Messenger ; genetics ; metabolism ; Stomatitis, Aphthous ; metabolism ; T-Box Domain Proteins ; genetics ; metabolism ; T-Lymphocytes ; metabolism ; Young Adult

OBJECTIVETo study the effects of dihydromyricetin (DMY) on tumor necrosis factor (TNF-alpha) and NF-kappaB p65 cells of the recurrent aphthous ulcer (RAU) rat.

METHODSixty of Sprague Dawley (SD) rats are randomly divided into 6 groups. The rat RAU models was established by injection of immunogen composed of the homogenate supernate of homogeneous oral mucosa from SD rats and Freund's complete adjuvant (FCA) into rat backs subcutaneously once every two weeks for 5 times, and the only FCA injected as normal control. DMY(50,100, 200 mg x kg(-1)) and licorzine (67.5 mg x kg(-1)) were given intragastrically once daily for 7 days on the day of the last immunogen injection, respectively. Water was given instead of drugs in normal and model control groups. The blood was got from the fundus oculi vein of rats on the day after last administration, the serum was separated. Then the rats were put to death with the cervical dislocation and decollated on the ice stage. Two sides of rat buccal mucosal tissue were cut. One side of them was put into 4% neutral formalin and another was added into 10 times of phosphate buffer to homogenize it homogenate. The oral mucosa ulcer occurrence of rats was observed by the histopathology. The content of TNF-alpha in serum and oral mucosa was assayed with ELISA; the expression of NF-kappaB cells was determined by the immunohistochemisty and macrophagus was determined by azure-feosin-dyeing in oral mucosa tissue. The expression of TNF-alpha mRNA in serum and oral mucosa was detected by reverse transcription polymerase chain reaction.

RESULTIn RAU rats, oral mucosa ulcer occurred, the content of TNF-alpha raised and the expression of TNF-alpha mRNA increased in serum and oral mucosa, the expression of positive NF-kappaB p65 cells and the amount of macrophages went up in oral mucosa. DMY and licorzine significantly reduced occurrence of oral mucosa ulcer in RAU rats, lowered content of TNF-alpha and the expression of TNF-alpha mRNA in serum and oral mucosa, reduced expression of positive NF-kappaB p65 cells and the amount of macrophages.

CONCLUSIONIt is considered that DMY could inhibited occurrence of oral mucosa ulcer in RAU rats. One principle of it's effects could be that DMY controlled NF-kappaB p65 regulation on transcription and release of TNF-alpha mRNA in macrophages in oral mucosa ulcer tissue and lead to fall of TNF-alpha content in oral mucosa tissue causing role of anti-oral mucosa ulcer.

Animals ; Disease Models, Animal ; Female ; Flavonols ; administration & dosage ; Humans ; Macrophages ; drug effects ; immunology ; Male ; Mouth Mucosa ; drug effects ; metabolism ; Rats ; Rats, Sprague-Dawley ; Stomatitis, Aphthous ; drug therapy ; genetics ; immunology ; Transcription Factor RelA ; genetics ; immunology ; Tumor Necrosis Factor-alpha ; genetics ; immunology