Objective To analyze the relationship between changes of CD80, CD86 and Th1/Th2 cytokines and the severity of coxsackievirus A6 (CVA6) hand-foot-mouth disease (HFMD). Methods Among the 380 children with CVA6 HFMD in the 971th Hospital of the People's Liberation Army Navy and the 94th Hospital of the Joint Logistic Support Force were selected from January 2021 to January 2024. According to the disease severity, the children were divided into common group and severe group. The levels of CD80, CD86 and Th1/Th2 cytokines (interferon-γ (IFN-γ), interleukin-4 (IL-4)) were compared between the two groups. The ROC curve was used to analyze the evaluation efficiency of CD80, CD86, IFN gamma, and IL-4 levels on the severity of CVA6 HFMD. Multivariate logistic regression analysis was used to analyze the influencing factors of the severity of CVA6 HFMD. Results The levels of CD80, CD86, IFN-γ and IL-4 in the severe group were higher than those in the common group (P<0.05). The AUCs of CD80, CD86, IFN-γ, IL-4 and their combined detection in evaluating severity of CVA6 HFMD were 0.769, 0.717, 0.756, 0.864, and 0.917, respectively. The AUC value and specificity of combined detection were higher than those of single detection of each index (P<0.05). Multivariate logistic regression analysis indicated that age ≤ 3 years old was a risk factors (P<0.05), while time from onset to diagnosis ≤ 3d, duration of fever ≤ 3d, WB ≤ 12×109/L, low expression of CD80, low expression of IFN-γ, and low expression of IL-4 were protective factors (P<0.05). Conclusion CD80, CD86 and Th1/Th2 cytokines (IFN-γ, IL-4) are related to the severity of CVA6 HFMD. Early monitoring of CD80, CD86, IFN-γ and IL-4 levels in children is conducive to understanding their disease progression and guiding physician treatment.

Objective:To investigate the effects of Neibu Huangqi Decoction combined with Kangfuxin Liquid on wound healing after hemorrhoid fistula.Methods:Randomized controlled trial. A total of 90 patients with hemorrhoid fistula surgery in Tangshan Hospital of Traditional Chinese Medicine from January 2020 to June 2021 were selected as the observation objects and divided into 2 groups by random number table method, with 45 cases in each group. The control group was treated with Kangfuxin Liquid after surgery, and the observation group was treated with Neibu Huangqi Decoction. Both groups were treated continuously for 14 days. Wound symptom score was performed before and after treatment. The levels of TNF-α, IL-6 and IL-8 were determined by ELISA. The wound healing time was observed and the wound healing rate was calculated. Adverse reactions were recorded and clinical efficacy was evaluated.Results:The total effective rate was 93.33% (42/45) in the observation group and 66.67% (30/45) in the control group, with statistical significance ( χ2=9.89, P=0.002). After treatment, the scores of pain [(0.63±0.14) vs. (0.97±0.27), t=7.50], exudation [(0.67±0.12) vs. (1.09±0.31), t=8.48], edema [(0.78±0.17) vs.(1.25±0.36), t=7.92], pruritus [(0.78±0.20) vs. (1.32±0.33), t=9.39] were lower than those in the control group ( P<0.01); serum TNF-α [(33.46±2.86) μg/L vs. (45.78±3.92) μg/L, t=25.39], IL-6 [(41.86±5.84) μg/L vs. (56.12±6.75) μg/L, t=15.98], IL-8 [(27.40±3.58) ng/L vs. (36.16±3.84) ng/L, t=16.69] were lower than those in the control group ( P<0.01). The wound healing time of the observation group was shorter than that of the control group ( t=8.60, P<0.01), and the wound healing rate was higher than that of the control group ( t=24.65, P<0.01). During treatment, the incidence of adverse reactions was 11.11% (5/45) in the observation group and 6.67% (3/45) in the control group, without statistical significance ( χ2=0.14, P=0.711). Conclusion:Neibu Huangqi Decoction combined with Kangfuxin Liquid can promote wound healing, reduce inflammatory cytokines, relieve pain and exudation, improve clinical efficacy, and have few adverse reactions.

Objective:To investigate the clinical and genetic features, and treatment of X-linked hypophosphatemic rickets (XLH).Methods:In this retrospective study, we reviewed the medical records of 25 pediatric patients with XLH who were admitted to Department of Endocrinology Genetics and Metabolism,Beijing Children′s Hospital from January 2010 to January 2020. The clinical characteristics, PHEX gene variants, as well as clinical outcome of the patients were summarized. To analyze the correlation between genotype and phenotype, the patients were divided into different subgroups according to the location of the variants, including N-terminal-located vs. C-terminal-located variant, and Zn-binding domain exon 17 or 19 variant vs. non-exon 17 or 19 variant. The age at onset, height standard deviation score (HtSDS), intercondylar or intermalleolar distance, fasting serum phosphorus, and HtSDS and intercondylar or intermalleolar distance at the final follow-up were compared by rank sum test or t text. Results:Among the 25 children with XLH, 8 were boys and 17 were girls. The median age of onset was 1.2 (1.0, 1.8) years, and the median age of diagnosis was 2.5 (1.5, 4.3) years. The main clinical manifestations were abnormal gait and lower limb deformity. The HtSDS was -2.0(-3.2, -0.8), and the intercondylar or intermalleolar distance was 4.5 (3.0, 6.0) cm. The fasting serum phosphorus level was 0.8 (0.7, 0.9) mmol/L, while the serum alkaline phosphatase level was (721±41) U/L and the serum calcium level was (2.5±0.1) mmol/L. Three patients (12%) had parathyroid hormone levels above the upper limit of the normal range. Twenty-five patients (100%) showed radiographic changes of active rickets. Nephrocalcinosis was found in 2 cases (9%). Twenty-four different PHEX variations were detected in 25 patients, among whom 11 (44%) had not been reported previously. No hot spot variation was found. No statistical differences (all P>0.05) were identified in clinical features and outcomes either in comparing patients with N-terminal (21 cases) and C-terminal (4 cases) variants, or in comparing patients with variant located in exon 17 or 19 (4 cases) or not (21 cases). Twenty-four cases (96%) were treated regularly with phosphate supplements and active vitamin D. After 2.7 (1.6, 5.0) years of follow-up, clinical symptoms were relieved in 96% (24/25) of the patients. The HtSDS after treatment had no significant difference compared to that before treatment (-2.0(-3.2, -0.8) vs.-2.0(-2.8, -1.1), Z =-0.156, P>0.05), while the intercondylar or intermalleolar distance after treatment was significantly reduced compared to that before treatment (4.5(3.0, 6.0) vs. 1.5(0, 3.3) cm, Z =-3.043, P<0.05). Bone X-rays were reexamined in 17 cases after treatment, and radiographic signs of rickets were improved. Eighteen cases had secondary hyperparathyroidism and 7 cases had nephrocalcinosis. Conclusions:The main clinical manifestations of XLH are abnormal gait, lower limb deformity and short stature. A high proportion of novel variations of PHEX gene but no hot spot variation neither genotype-phenotype correlation are found. Regular treatment with phosphate supplements and active vitamin D can significantly improve the symptoms except for the height. However, the rate of adverse events including secondary hyperparathyroidism and nephrocalcinosis seems to be high.

Objective: To investigate the efficacy and safety of rapamycin in children with tuberous sclerosis complex (TSC) associated renal disease. Methods: A prospective self-control study was conducted. The clinical data of 92 children diagnosed with tuberous sclerosis complex associated kidney disease at the People′s Liberation Army General Hospital from January 2011 to January 2019 were collected. The long-term rapamycin treatment for all patients initiated at 1 mg/(m²·d), which was gradually adjusted to reach a blood concentration of 5-10 μg/L. The changes of the maximum diameter of renal lesions in children after rapamycin treatment were observed and analyzed with Wilcoxon test. Results: Ninety-two children, including 52 males and 40 females, who met the criteria were analyzed. Sixty patients had only renal angiomyolipoma(RAML), while 24 patients had only multiple renal cysts(MRC), and 8 patients had both lesions. The age of TSC diagnosis was 16.0 (7.0, 42.0) months, and the age of initial treatment with rapamycin was 63.5 (21.0, 103.0) months. The follow-up lasted for 12.0 (4.0, 23.0) months. Sequencing of TSC1 and TSC2 genes was performed in 54 children with TSC, including 3 patients (6%) with mutations in TSC1 gene and 51 patients (94%) with mutations in TSC2 gene. The maximum RAML diameter before treatment was 7.0 (4.0, 9.0) mm. The best effect reached at 3 months of treatment, with the diameter of 4.0 (0,7.0) mm. The maximum diameters at 6 months, 1 year and 1-2 years were 5.0 (0,9.8) mm, 5.0 (1.5, 8.5) mm, 5.5 (3.0, 9.0) mm, respectively, and were significantly different from the baseline (Z=-2.404,-2.350,-2.750,P=0.016,0.019,0.006, respectively). The maximum diameter after 2-3 years, and ≥3 years were 5.0 (3.9,7.0) mm and 6.0 (1.0, 11.0) mm, without significant difference from the baseline (Z=-0.856,-0.102,P=0.393,0.919, respectively).The maximum diameters of MRC after 3 months, 6 months, 1 year,1-2 years, 2-3 years, and ≥3 years were 11.0 (5.0, 14.0) mm,3.0 (0.0,11.0) mm,5.0 (0,21.0) mm,0 (0,14.0) mm,0 (0,10.0) mm, and 0 (0,18.3) mm, respectively, but were not significantly different rom the baseline (7.0 (5.0, 15.7) mm)(Z=-0.944,-1.214,-1.035,-1.896,-1.603,-1.214,P=0.345,0.225,0.301,0.058,0.109,0.225, respectively).Twenty-nine patients (32%) had oral ulcers during the entire treatment period, and no serious adverse reactions were observed. Conclusions Rapamycin could decrease the diameter of TSC-related RAML, but could not inhibit the growth of cysts. It is well tolerated in the treatment of renal diseases associated with tuberous sclerosis complex.

To investigate the efficacy and safety of rapamycin in children with tuberous sclerosis complex (TSC) associated renal disease. Methods A prospective self?control study was conducted. The clinical data of 92 children diagnosed with tuberous sclerosis complex associated kidney disease at the People's Liberation Army General Hospital from January 2011 to January 2019 were collected. The long?term rapamycin treatment for all patients initiated at 1 mg/(m2·d), which was gradually adjusted to reach a blood concentration of 5-10 μg/L. The changes of the maximum diameter of renal lesions in children after rapamycin treatment were observed and analyzed with Wilcoxon test. Results Ninety?two children, including 52 males and 40 females, who met the criteria were analyzed. Sixty patients had only renal angiomyolipoma(RAML), while 24 patients had only multiple renal cysts(MRC), and 8 patients had both lesions. The age of TSC diagnosis was 16.0 (7.0, 42.0) months, and the age of initial treatment with rapamycin was 63.5 (21.0, 103.0) months. The follow?up lasted for 12.0 (4.0, 23.0) months. Sequencing of TSC1 and TSC2 genes was performed in 54 children with TSC, including 3 patients (6%) with mutations in TSC1 gene and 51 patients (94%) with mutations in TSC2 gene. The maximum RAML diameter before treatment was 7.0 (4.0, 9.0) mm. The best effect reached at 3 months of treatment, with the diameter of 4.0 (0, 7.0) mm. The maximum diameters at 6 months, 1 year and 1-2 years were 5.0 (0,9.8) mm, 5.0 (1.5, 8.5) mm, 5.5 (3.0, 9.0) mm, respectively, and were significantly different from the baseline (Z=-2.404,-2.350,-2.750, P=0.016,0.019,0.006, respectively). The maximum diameter after 2-3 years, and≥3 years were 5.0 (3.9,7.0) mm and 6.0 (1.0, 11.0) mm, without significant difference from the baseline (Z=-0.856,-0.102, P=0.393, 0.919, respectively).The maximum diameters of MRC after 3 months, 6 months, 1 year,1-2 years, 2-3 years, and≥3 years were 11.0 (5.0, 14.0) mm,3.0 (0.0,11.0) mm,5.0 (0,21.0) mm,0 (0,14.0) mm,0 (0,10.0) mm, and 0 (0, 18.3) mm, respectively, but were not significantly different rom the baseline (7.0 (5.0, 15.7) mm) (Z=-0.944,-1.214,-1.035,-1.896,-1.603,-1.214, P=0.345, 0.225, 0.301, 0.058, 0.109, 0.225, respectively). Twenty?nine patients (32%) had oral ulcers during the entire treatment period, and no serious adverse reactions were observed. Conclusions Rapamycin could decrease the diameter of TSC?related RAML, but could not inhibit the growth of cysts. It is well tolerated in the treatment of renal diseases associated with tuberous sclerosis complex.

Objective To analyze the relationship between the morphological characteristics and rotator cuff tear (RCT) by MR.Methods The data of clinic and shoulder MRI of 37 patients with RCT (patients group) were analyzed retrospectively,and 19 healthy volunteers were collected in control group.The acromial shapes were classified into type Ⅰ (flat),type Ⅱ (curved),type Ⅲ (hooked) and type Ⅳ (convex).Additional measurements about pathogenesis of RCT including acromio-humeral distance (AHD),acromial index (AI),lateral acromial angle (LAA) and acromial thickness were performed for further assessment.Results Type Ⅱ was the most commonly encountered acromial shape in patients group (16/37,43.24 ％) and control group (11/19,57.89 ％).There was no statistically significant difference in the incidence of each acromial shape between two groups (P＞0.05).However,the AHD,AI,LAA and acromial thickness showed statistically significant difference between the patients group and control group (all P＜0.05).The type Ⅲ acromion was signifi candy different from the other types in patients group (P＜0.05).Conclusion MRI can clearly display RCT.The AHD and LAA are smaller,the AI and acromial thickness are bigger in RCT patients.Type Ⅲ acromion may increase risks for RCT.

Objective To investigate clinical efficacy and safety of the memantine and donepezil in the treatment of moderate to severe Alzheimer's disease,in order to provide the basis for clinical treatment.Methods One hundred and twelve cases of moderate to severe Alzheimer's disease patients were given memantine plus donepezil(observation group) ,and single use of memantine treatment(control group), and the treatment for 24 weeks.Respectively before and after treatment, Mini Mental State Scale (MMSE), Alzheimer' s disease assessment scale (ADAS-cog), Alzheimer' s disease collaborative learning, daily life ability questionnaire (ADCS-ADL) ,and neuropsychological questionnaire (NPI) score, and adverse reactions were observed in the process of two kinds of therapy, the efficacy and safety of two kinds of treatment methods were evaluated.Results After treatment, the patients in observation group with MMSE, ADAS-cog, ADL and NPI evaluation results were (12.1 ± 2.1), (32.9 ± 8.3), (33.4 ± 5.0), (6.1 ± 3.1) scores, significantly improved compared with scoring (9.9±2.8), (46.2±7.6), (42.1±6.0), (10.5±2.9) scores before treatment,and the differences were statistically significant (t =2.138,-2.411,2.398, 2.107 respectively, P ＜ 0.05).The control group after treatment in patients with MMSE, ADAS-cog, ADL and NPI evaluation results were (12.3±2.6), (33.1 ±7.2), (35.1 ±6.6), (6.7 ± 2.9) scores, significantly improved compared with scoring 11.0 ± 2.5,44.9 ± 6.9,42.2 ±6.6,10.9 ± 3.5 before treatment, and the difference had statistical significanc (t =2.101,-2.033,2.105, 2.400 respectively, P＜0.05).After treatment, the difference of patients in the two groups of MMSE, NPI score had statistical significance(t =2.553,2.176, P＜0.05).The adverse reactions in two group respectively were 32.14％ (18/56) and 26.79％ (15/56), less difference was no statistical significance (P＞0.05).Vital signs checks,regular laboratory examination and ECG examination showed no obvious abnormalities.Conclusion Memantine combined with donepezil in the treatment of moderate and severe AD patients is superior to the singleeffect of memantine, and long-term use will not increase the risk of adverse reactions, which is safe and effective in the combined application.

Objective To investigate the efficacy and safety of cervical dilatation balloon and Dinoprostone for promoting cervical ripening and induction of labor.Methods 80 maternal who were taken induction of labor were randomly divided into two groups,40 patients in each group,according to the order of admission,the study group and the control group used COOK balloon and Dinoprostone for promoting cervical ripening and induction of labor respec-tively,Bishop score before and after treatment,cervical ripening rate of maternal and neonatal outcomes were compared between the two groups of maternal.Results The study group′s Bishop score was (8.96 ±0.15)points,which was significantly higher than (6.02 ±0.34)points of the control group after treatment,the difference was statistically sig-nificant(t =3.75,P <0.05);The total effective rate of the study group for maternal cervical ripening and induction of labor was 97.5%,which was significantly higher than 67.5% of the control group,the difference was statistically sig-nificant(χ2 =5.31,P <0.05);The study group′s induction to the regularity of contractions time was (6.2 ±1.4)h, which was significantly lower than (11.5 ±2.1)h of the control group(t =13.28,P <0.05),and the study group′s vaginal delivery rate and cesarean section rate were 85.0% and 15.0% respectively,the difference was statistically significant,which compared with 62.5% and 37.5% of the control group (χ2 =3.88,6.49,all P <0.05);The two groups′maternal and neonatal outcomes showed no significant difference(t =0.17,0.43,0.31,0.82,all P >0.05).Conclusion The cervical dilatation balloon has a higher success rate for promoting cervical ripening and induction of labor which is safe and reliable that should be widely applied.

The 10-month baby boy,with normal development,mainly due to sleep in frequent tongue bite nearly 4 months.Bitten his tongue after faring asleep,biting bleeding,bite pain awake.Many of his tongue ulcers,serious impact on children's lives,family companionship in suffering.History found in the supplementary week before the onset of the left frontal children hurt skin bruising.Electroencephalogram showed:Sleep of epileptiform discharges in the left frontal and central anterior temporal areas,but bite the tongue during sleep electroencephalogram synchronization no relevant abnormal discharge.The final diagnosis of traumatic epilepsy,frontal lobe epilepsy syndrome automatically lead to tongue bite tongue with traumatic ulcers.Oral Clonazepam 0.25 mg before sleep,the symptoms disappeared that night,nighttime sleep peacefully.His tongue ulceration has healed after a month.Readers are advised to take advantage of these key parts of the diagnostic process and diagnostic thinking or diagnostic procedures,combined with their own clinical practice,serious thinking,learning,summarized,and benefit from it.

OBJECTIVEThe authors sought to investigate the clinical features and characteristics of genetic mutation in patients with aspartylglucosaminuria.

METHODClinical data of two pediatric siblings in a family were analyzed retrospectively and relative literature was reviewed in order to study the clinical features, imaging and enzymatic characteristics and genetic mutations.

RESULTCase 1, the proband, male, he was hospitalized at 20 months of age because of fever and hepatosplenomegaly for nine days. This child was of moderate nutritional status and normal development. Blood tests showed hemoglobin 78.0 g/L, RBC3.18 × 10¹²/L, WBC 4.06 × 10⁹/L, neutrophils 0.236, lymphocytes 0.631, platelets 34 × 10⁹/L, C-reactive protein 17 mg/L. Blood biochemistry showed alanine aminotransferase 67.1 U/L, aspartate aminotransferase 74.1 U/L, serum albumin 32.8 g/L, direct bilirubin 10.5 µmol/L, lactate dehydrogenase 301.7 U/L. Bone marrow cytology showed reactive morphological changes in bone marrow cells. Atypical lymphocytes could be seen in both peripheral blood and bone marrow smears. Cranial MRI showed poor myelination. Aspartylglucosaminidase activity in peripheral leucocytes of the proband 5.7 nmol/(g × min) vs. normal control>26.6 nmol/(g × min). On his AGA gene and that of his parents, a heterozygous mutation site located in exon 3, c.392C>T (p.S131L), was identified as a novel mutation inherited from his father. The mutation from his mother has not been detected. The proband was not responsive to the anti-infectious medication, nutritional intervention and symptomatic treatment.He died one month after diagnosis.His elder brother, Case 2, showed fever, recurrent respiratory tract infection and progressive psychomotor regression with hepatosplenomegaly from the age of four years. Cranial MRI revealed extensive symmetrical leukodystrophy in bilateral cerebra, cerebellum and brainstem.He died at the age of six years.Related literature was summarized, and no Chinese AGU cases had been reported; 221 foreign cases were collected. The clinical and imaging characteristics were summarized. Delay in language development was one of the clinical symptoms that the majority of parents of AGU children first noted.

CONCLUSIONPatients with aspartylglucosaminuria lack of specific symptoms.For children with unexplained delayed speech and progressive mental retardation, the possibility of AGU should be considered, and efforts be made for enzymatic and genetic diagnosis. c.392C> T (p.S131L) was identified as a novel mutation of AGA gene.

Aspartylglucosaminuria ; diagnosis ; genetics ; pathology ; Aspartylglucosylaminase ; genetics ; metabolism ; Biomarkers ; blood ; Brain ; pathology ; Child, Preschool ; DNA Mutational Analysis ; Heterozygote ; Humans ; Infant ; Lysosomal Storage Diseases ; diagnosis ; genetics ; pathology ; Magnetic Resonance Imaging ; Male ; Mutation ; Pedigree ; Polymerase Chain Reaction