Hyper-IgE syndrome (HIES) comprises a group of rare primary immunodeficiencies, which are characterized by extremely high serum IgE levels, eczema, recurrent skin and pulmonary infections.Signal transduction and activator of transcription 3( STAT3)-HIES is the most common type, which is caused by dominant-negative mutations in STAT3.STAT3-HIES confers broad innate and acquired immune defects, defects in skeletal, connective tissue, and vascular functions, causing a clinical phenotype including eczema, staphylococcal and fungal skin and pulmonary infections, scoliosis and minimal trauma fractures, vascular tortuosity and aneurysm.In this article, the advance in diverse clinical manifestations and management strategies of STAT3-HIES was summarized.

Objective:To investigate the factors affecting phenotypes in the patients of methylmalonic acidemia combined with homocysteinemia cblC type with MMACHC c. 609G>A homologous variant. Methods:A retrospective study on the clinical manifestations, complications, treatment, and outcome in 164patients of cblC type with MMACHC c. 609G>A homologous variant was conducted.The patients were diagnosed by biochemical and genetic analysisfrom January 1998 to December 2020. Results:Among the 164 patients, 2 cases were prenatally diagnosed and began treatment after birth. They are 3 and 12 years old with normal physical and mental development. Twenty-one cases were diagnosed by newborn screening. Among them, 15 cases had with normal development. They were treated fromthe age of two weeks at the asymptomatic period. Six cases began treatment aged 1 to 3 months after onset. Their development was delayed. One hundred and forty-one cases were clinically diagnosed. Their onset age ranges from a few minutes after birth to 6 years old. 110 cases had early-onset (78.0%). 31 cases had late-onset (22.0%). Five of them died. 24 patients lost to follow-up. Of the 141 clinically diagnosed patients, 130 (92.2%) with psychomotor retardation, 69 (48.9%) with epilepsy, 39 (27.7%) with anemia, 30 (21.3%) had visual impairment, 27 (19.1%) had hydrocephalus, 26 (18.4%) had feeding difficulties, 7 (5.0%) with liver damage, and 5 (3.5%) with metabolic syndrome. The frequency of hydrocephalus and seizures was significantly higher in the early-onset group. The urinary methylmalonic acid increased significantly in the patients with epilepsy. During the long-term follow-up, the level of plasma total homocysteine in the seizure-uncontrolled group was significantly higher than that in the seizure-controlled group, the difference had a statistical significance ( P<0.05). Conclusion:Most of the patients with MMACHC c. 609G>A homozygous variant had early-onset disease, with a high mortality and disability rate. If not treated in time, it will lead to neurological damage, resulting in epilepsy, mental retardation, hydrocephalus, and multiple organ damage. Pre-symptomatic diagnosis and treatment are crucial to prevent irreversible neurological damage. Neonatal screening and prenatal diagnosis are important to improve the outcome of the patients.

Objective:To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients.Methods:From January 1998 to December 2020, 76 patients with hydrocephalus due to methylmalonic acidemia combined with homocysteinuria in the Department of Pediatrics in 11 hospitals including Peking University First Hospital were diagnosed by biochemical, genetic analysis and brain imaging examination. The patients were divided into operation-group and non-operation-group according to whether they underwent ventriculoperitoneal shunt. The clinical features, laboratory examinations, genotype, and follow-up data were retrospectively analyzed. Data were compared between the two groups using rank sum test, and categorical data were compared using χ 2 test. Results:Among the 76 patients (51 male, 25 female), 5 were detected by newborn screening, while 71 were diagnosed after clinical onset, 68 cases (96%) had early-onset, 3 cases (4%) had late-onset. The most common clinical manifestations of 74 cases with complete data were psychomotor retardation in 74 cases (100%), visual impairment in 74 cases (100%), epilepsy in 44 cases (59%), anemia in 31 cases (42%), hypotonia or hypertonia in 21 cases (28%), feeding difficulties in 19 cases (26%) and disturbance of consciousness in 17 cases (23%). Genetic analysis was performed in 76 cases, all of whom had MMACHC gene variations, including 30 homozygous variations of MMACHC c.609G>A. The most common variations were c.609G>A (94, 62.7%), followed by c.658_660del (18, 12.0%), c.567dupT (9, 6.0%) and c.217C>T (8, 5.3%). Therapy including cobalamin intramuscular injection, L-carnitine and betaine were initiated immediately after diagnosis. A ventriculoperitoneal shunt operation was performed in 41 cases (operation group), and 31 patients improved after metabolic intervention (non-operation group). There was no significant difference in the age of onset, the age of diagnosis, the blood total homocysteine, methionine, and urinary methylmalonic acid concentration between the two groups (all P>0.05). The symptoms of psychomotor development, epilepsy, and visual impairments improved gradually after a long-term follow-up in the operation group. Conclusions:Hydrocephalus is a severe complication of methylmalonic acidemia combined with homocysteinuria. The most common clinical manifestations are psychomotor retardation, visual impairment, and epilepsy. It usually occurs in early-onset patients. Early diagnosis and etiological treatment are very important. Hydrocephalus may improve after metabolic intervention in some patients. For patients with severe ventricular dilatation, prompt surgical intervention can improve the prognosis.

Objective:To explore the value of thyroid radioactive iodine uptake (RAIU) on predicting the residual activity in patients with differentiated thyroid carcinoma (DTC) after administration of 131I. Methods:A total of 178 patients (63 males, 115 females, age: (39.8±11.4) years) with DTC who underwent initial treatment of 131I in Suzhou Science & Technology Town Hospital between August 2018 and April 2019 were enrolled in this retrospective study. RAIU test and thyroid imaging were performed before 131I treatment. Patients were divided into 3 groups according to the thyroid remnant showed by thyroid imaging: no remnant group, a little remnant group, and obvious remnant group. Radiation dose equivalent rates at different time points (immediately/24 h/48 h/72 h after injection of 131I) were measured to estimate the residual activity of 131I after administration. RAIU and residual activity at 72 h among different thyroid remnant groups were compared by one-way analysis of variance. Relationship between RAIU/ 131I therapeutic dose and residual activity at 72 h was analyzed by Pearson correlation analysis. The linear regression equation between RAIU and residual activity at 72 h after treatment was established. Results:The 3 h RAIU in no remnant group ( n=45), a little remnant group ( n=101), and obvious remnant group ( n=32) were (4.77±1.46)%, (5.53±1.70)% and (8.92±3.75)%, respectively ( F=39.35, P<0.01), and the 24 h RAIU was also significantly different among those 3 groups ((1.54±0.88)%, (3.41±2.55)%, (13.52±8.59)%; F=91.52, P<0.01). The residual activity at 72 h in no remnant group, a little remnant group, and obvious remnant group were (81.70±25.61), (108.24±51.58) and (283.07±133.72) MBq, respectively ( F=92.84, P<0.01). There was a significant positive correlation between RAIU and the residual activity at 72 h (3 h: r=0.753, 24 h: r=0.817, both P<0.01). The linear regression equations between RAIU at 3 h and 24 h and the residual activity at 72 h were y=28.88 x-38.42 and y=13.87 x+ 67.01, respectively. When RAIU was higher than 24.01% at 3 h or 15.18% at 24 h, the residual activity at 72 h after treatment was likely to exceed 400 MBq. There was little correlation between 131I therapeutic dose and the residual activity at 72 h after treatment ( r=0.119, P>0.05). Conclusion:RAIU can be used to predict the residual activity at 72 h after treatment in DTC patients who underwent initial 131I treatment.

Objective To evaluate it' s prognosis according to the follow-up statistics of coronary reimplantation of anomalous left coronary artery originating from the pulmonary artery (ALCAPA).Methods Analyze the preoperative,peri-operative and postoperative data of 20 ALCAPA patients having undergone coronary artery reimplantation.Results After coronary reimplantation,patient' s cardiothoracic ratio was obviously decreased,the degree of myocardial ischemia was improved according to electrocardiogram,the left ventricular ejection fraction and fractional shortening showed a trend of rise,mostof the patients recover in 6 months to 1 year after coronary artery reimplantation.Left ventricular end-diastolic volume index over time gradually returned to normal,mitral regurgitation gradually.improved.Conclusion ALCAPA is rare and fatal,therefore it should be diagnosed and treated as early as possible.It is also significant to avoid missed diagnosis and misdiagnosis.After coronary reimplantation,cardiac function can be gradually restored with low mortality and good prognosis result.The left ventricularejection fraction of most patients recovers to the normal standard in six months to one year' s time.

Objective To assess the value of salivary gland scintigraphy in diagnosis of Sj(o)gren's syndrome (SS).Methods A total of 44 patients with clinically suspicious SS were included.The data of salivary gland scintigraphy were retrospectively analyzed and the time-radioactivity curve (TAC) was obtained by outlining ROI in bilateral parotid glands and submaxillary glands.Uptake index (UI) and excretion fraction (EF) were defined.Both UI and EF were compared with the visual assessment and final diagnosis respectively.Results UI and EF of bilateral parotid glands and submaxillary glands in SS patients were significantly lower than those in non-SS patients (all P＜0.05).The impaired salivary gland function was classified as 0-3 grades by visual assessment.The UI of bilateral parotid glands and submaxillary glands were negatively correlated with the qualitative classification.While there were no significant correlations between EF and qualitative classification (all P＞0.05),except for that of right submaxillary gland (r=-0.312,P=0.039).The comprehensive diagnostic efficacy of UI on SS patients was higher than those of visual assessment,but their area under curves of ROC were not significantly different (all P＞0.05).Conclusion UI and EF can effectively evaluate salivary gland function and serve as objective tools to distinguish patients with SS.

Background and purpose: Radiofrequency ablation (RFA) is one of the effective treatment methods for primary liver cancer and metastatic liver cancer. The purpose of this study was to investigate the risk factors of residual tumor after RFA for hepatic malignancies. Methods:A total number of 302 hepatic malignancies cases with 691 tumors after ultrasound-guided RFA from Jan. 2010 to Mar. 2013 were retrospectively analyzed. Single factor and multi-factor Logistic regression model were used to analyze the risk factors of residual tumor after RFA. Results:Complete ablation cases were 90.07%(272/302) for patients and 91.46%(632/691) for tumors, and the ablation residual rate was 8.54%. Ablation residual rates for tumor ≤3 cm, 3-5 cm and >5 cm in diameter were 6.30%, 9.57% and 28.57%, for tumor close to the intrahepatic vascular and gallbladder were 17.14%and 18.52%, for with and without combination with other local treatments were 7.02%and 13.41%, respectively. Multivariate analysis showed that tumor size>5 cm (P=0.044), proximity to large vessel (P=0.039) and without combination with other local treatments (P=0.001) were independent risk factors for ablation residual. Multivariate analysis showed that tumor near the intrahepatic vascular (P=0.014), single needle RFA (P=0.047) and without combination with other local treatments (P=0.023) were independent ablation residua risk factors for tumors between 3-5 cm in maximum diameter. Conclusion:Ultrasound-guided RFA can achieve satisfactory ablation effect. Tumor close to the intrahepatic vascular, tumor diameter>5 cm and without combination with other local treatment act as the independent risk factors for ablation residual. For tumors between 3-5 cm in diameter, in addition to close to intrahepatic blood vessels and without combination with other local treatment, single needle RFA is also another independent risk factor for ablation residual, and double-needle or multi-needle treatment can improve the ablation efifciency and reduce residual rate.

Objective To evaluate the clinical efficacy of Qingrehuashi herbal formula combined with high intensity focused ul-trasound(HIFU ) in the treatment of advanced pancreatic cancer .Methods 86 patients with pancreatic cancer (22 case of III stage and 64 case of IV stage) were included in this study .18 cases were performed the HIFU therapy for 2-3 times .Other 68 cases re-ceived once HIFU therapy ,among 53 cases of liver metastasis ,8 cases were simultaneously conducted HIFU ablation therapy on liv-er metastasis .The patients were given Chinese medicines dominated by Qingrehuashi before and after HIFU therapy and during fol-low up period .Results The single evaluation on HIFU irradiation cases after 1 month:complete remision(CR) in 0 case ,partial re-mission(PR) in 8 cases(9 .3% ) ,stable disease(SD in 64 cases(74 .4% ) and progress disease(PD) in 14 cases(16 .3% ) .The median survival rate of 1 year and half a year was 52 .0% and 11 .4% .Among 73 cases of increased CA199 before treatment ,CA199 after treatment was decreased in 12 cases .Among 36 cases of increased CA242 before treatment ,CA242 after treatment was decreased in 15 cases .The effective rate of analgesic relief in all the cases was 70 .9% (62/86) .Conclusion The integrated therapy of Qingre-huashi herbal formula and HIFU is an effective method for treating advanced pancreatic cancer .

The purpose of this study was to construct expression vectors of idiotype (Id) SmIg in patients with B-chronic lymphocytic leukemia and to express them in E.coli to obtain recombinant Id, and to investigate the effect of the protein on the proliferation and secretion of IL-2 and IFN-gamma of stimulated peripheral blood mononuclear cells (PBMC) in vitro. Light chain gene and Fd fragment of heavy chain gene were inserted into fd-tet-DOG2 vector to construct fd-tet-DOG2-Fab. Fab gene was further cloned into expression vector pHEN2 to construct the soluble expression vector pHEN2-Fab. After induction by IPTG, Fab protein was purified by Ni-NTA-chromatography. MTT was used to determine the effects of purified protein on the proliferation of stimulated PBMC in vitro and the concentrations of IL-2 and IFN-gamma in the culture supernatants were detected by ELISA. The results showed that recombinant pHEN2-Fab expression vector was constructed successfully. Fab protein was expressed in positive clone after induced by IPTG and two specific bands at 24-25 kD position were observed by SDS-PAGE electrophoresis. Proliferation of PBMC could be induced by purified Fab and the concentrations of IL-2 and IFN-gamma in culture supernatants were increased significantly after induction. It was suggested that the expression vector of SmIg Fab fragment was constructed successfully, and expressed and secreted from E. coli. The Fab protein could induce proliferation of PBMC and promote secretion of IL-2 and IFN-gamma.

OBJECTIVE: To explore the role in the pathogenesis of nasal polyp (NP) by comparison of eosinophil major basic protein (MBP), and neutrophil elastase (NE) in nasal polyps (NP) epithelium, stroma and the secretion of expression. METHOD: Immunohistochemical detection of 30 cases of patients with chronic sinusitis (CRS) NP epithelium NE stroma and the expression and secretion of MBP. RESULT: 1. There were significant differences of the expression of NE and MBP in epithelial tissue, stroma and secretion compared with the control group (P < 0.05); 2. There was not significant difference of the expression of NE and MBP between epithelial tissue and stroma (P > 0.05), while there was significant difference between epithelial tissue and the secretion (P < 0.05); 3. There were significant differences of the average positive expression of MBP and NE among epithelial tissue, stroma and secretion (P < 0.05); 4. MBP and NE were usually degranulated in secretion, while usually located in eosinophils (Eos) and neutrophils (Neu) in epithelial and mesenchymal; 5. There were abundant expression of MBP and NE in epithelial shedding regional, while small amounts of expression in stroma and integrated epithelial; 6. Electron microscopy could show the characteristics of electron density of MBP and NE particles. CONCLUSION MBP and NE collaborated to cause pathological effects on the occurrence of NP.
Adolescent ; Adult ; Aged ; Blood Proteins ; metabolism ; Bodily Secretions ; metabolism ; Eosinophil Major Basic Protein ; Eosinophils ; metabolism ; Female ; Humans ; Leukocyte Count ; Leukocyte Elastase ; metabolism ; Male ; Middle Aged ; Nasal Polyps ; metabolism ; pathology ; Proteoglycans ; metabolism ; Sinusitis ; metabolism ; pathology ; Young Adult