Objective To analyze the clinical features of 35 patients with Silver-Russell syndrome (SRS) in Beijing Children's Hospital in recent 6 years,and to recognize the clinical manifestations and improve the diagnosis of the disease.Methods The diagnostic criteria of SRS were studied retrospectively,the differences among 3 different diagnostic criteria were compared.Results Thirty-five SRS patients were diagnosed by means of 3 criteria,over a period from 2006 to 2012.There were 23 males and 12 females,with age range 0.08 ～ 12.15 yr.77 ％ of cases met the three criteria,97％ met two of the three criteria.There were dwarfism in 33 cases (94.2％),genital abnormalities in 1 case (2.9％),and asymmetry of limbs in 1 case (2.9％).The clinical characteristics with the frequencies accounting for over 80％ included short stature (average height-3.61 SDS),leanness (body mass index ＜-2.11SDS),bone dysmorphism including triangular face,irregular teeth,asymmetry of limbs,clinodactyly of fifth finger,and bone age obviously lagged behind.60％ of the cases showed bone age lagging behind more than 1 year.Height lagging behind was more obviously then bone age.Conclusions The diagnosis of SRS is mainly based on Clinical manifestation,laboratory and biochemical examinations are of no avail.There is a high coincidence with the 3 different diagnostic criteria.Clinical features in more than 80％ patients with SRS are short stature,craniofacial triangular dysmorphism,irregular teeth,limbs asymmetry and fifth finger clinodactyly,and mild lagging behind of bone age.

The purpose of quality control is to form a standard,scientific,and unified control system for PET-CT.The improvement of regulations is the base.The training of technicians is the key.The establishment of radiological protection rules is the assurance.So it is an important link to improve the quality control of PET-CT for better sensitivity and accuracy of PET-CT.

OBJECTIVE:To study the safety of Jaundice-abating Chinese Herbal Lotion for External use through animal skin susceptibility test so as to provide references for its clinical application.METHODS:Skin and systemic susceptibility tests were conducted in accordance with the pertinent standards issued by our country.RESULTS:Neither skin allergic reaction nor systemic allergic reactions were noted for jaundice-abating Chinese Herbal Lotion for external use.CONCLUSION:Jaundice-abating Chinese Herbal Lotion for external use meets the clinical requirements in the skin susceptibility test.This drug was proved to be safe in the local or systemic application,and it can be used in the clinic through systemic tub bath.

Objective To investigate the mRNA and protein expression levels of telomeric-repeat binding factor-1 (TRF1) and TRF2 in the peripheral blood mononuclear cells (PBMCs) of patients with systemic lupus erythematosus (SLE),and the relations between these gene expression levels and clinical data of SLE patients were explored.Methods According to disease activity,these SLE patients were divided into the active group (40 cases) and the stable group (67 cases).These patients were also grouped as renal damage group (46 cases) and renal damage-free group (61 cases) based on their renal conditions.Healthy individuals (41 cases) were also included as control.Real-time quantitative polymerase chain reaction (RT-qPCR) was employed to study the mRNA expression of TRF1 and TRF2.The protein levels of TRF1 and TRF2 were measured by Western Blot (WB).Independent-Samples t test or one-way analysis of variance (ANOVA) in conjunction with the Least-Significant Difference method (LSD method) wasperformed if the data were in normal distributions;otherwise,the Kruskal-Wallis test was applied.Spearman's correlation analysis was also used for statistical analysis.Results The mRNA and protein expression levels of TRF1 and TRF2 in the PBMCs of the active group (TRF1:0.003 1±0.003 3;TRF2:0.010 5±0.064 8) and renal damage group (TRF1:0.002 3 ±0.002 6;TRF2:0.004 3 ±0.003 3) were significantly increased compared to the stable group (TRF1:0.001 2±0.001 1;TRF2:0.004 2±0.008 6),the renal damage-free group (TRF1:0.001 3±0.001 8;TRF2:0.003 4±0.007 2) and healthy (TRF1:0.001 2±0.003 0;TRF2:0.003 4±0.002 7) individuals respectively (P＜0.05).In SLE patients,the expression levels of TRF1 mRNA were correlated with erythrocyte sedimentation rate (r=0.365,P＜0.05);the expression levels of TRF2 mRNA were correlated with SLEDAI score (r=0.270,P＜0.05),erythrocyte sedimentation rate (r=0.304,P＜0.05),creatinine (r=0.258,P＜0.05) and 24-hour urinary protein (r=0.344,P＜0.05).Conclusion Altered expression of TRF1 and TRF2 might be involved in the pathogenesis of Systemic lupus erythematosus.The positive correlation between TRF2 and SLEDAI score,24-hour urinary protein suggest that TRF2 might be usedas a biomarker for disease activity or renal damage in

OBJECTIVE: To explore the clinical characteristics and genetic basis for three children with Congenital chlorine diarrhea (CCD). METHODS: Three children with CCD who attended the Affiliated Children's Hospital of Capital Pediatric Institute from June 2014 to August 2020 were selected as the research subjects. Peripheral blood samples of the three children and their parents were collected for genetic testing. And the results were verified by Sanger sequencing. RESULTS: The clinical manifestations of the three children have included recurrent diarrhea, with various degrees of hypochloremia, hypokalemia and refractory metabolic alkalosis. Genetic testing revealed that the three children have all carried variants of the SLC26A3 gene, including homozygous c.1631T>A (p.I544N) variants, c.2063_1G>T and c.1039G>A (p.A347T) compound heterozygous variants, and c.270_271insAA(p.G91kfs*3) and c.2063_1G>T compound heterozygous variants. Sanger sequencing confirmed that all of the variants were inherited from their parents. CONCLUSION The variants of the SLC26A3 gene probably underlay the CCD in these children. Above finding has enriched the spectrum of SLC26A3 gene variants.
Humans ; Child ; Chlorine ; Genetic Testing ; Hypokalemia/genetics* ; Homozygote ; Diarrhea/genetics* ; Mutation

Objective To study expression,distribution,significance and relationship of CXCL12,CXCR4,microvessel density (MVD) in multiple myeloma (MM) bone marrow micro niche.Methods 63 cases of patients with MM were chosen as the experimental group,42 cases of healthy persons were chosen as the control group.The expression and distribution of CXCL12,CXCR4,MVD were detected by immunohistochemical method.Results Compared with the control group,the expressions of CXCL12,CXCR4,MVD in the experimental group were higher,the difference was statistically significant (P ＜ 0.05),their expressions in bone marrow were not significantly different from gender,age,immunoglobulin type and light chain classification (P＞0.05);the expression of CXCR4,MVD were positively related with CXCL12 (P＜0.05).Conclusion The expression of CXCL12,CXCR4,MVD may be related to the occurrence of MM;CXCL12/CXCR4 biological axis could promote the angiogenesis of MM bone marrow micro niche.

Objective:To evaluate the nutritional status of patients with decompensated liver cirrhosis and explore the correlation with malnutrition and the risk factors of depressed mood.Methods:190 cirrhotic patients admitted to the Department of Gastroenterology of the First Hospital of Shanxi Medical University from June to September 2023 were selected according to the inclusion and exclusion criteria. Eligible patients were divided into subgroups based on the presence or absence of malnutrition as determined by subjective global assessment (SGA). The Center for Epidemiological Studies Depression (CES-D) scale was used to assess patients' propensity for depressed mood. Relevant clinical data were also collected and analyzed.Results:A total of 185 patients were included, of which 126 were in the non-malnutrition group and 59 malnutrition group. There were significant between-group differences in terms of CES-D results, age, body mass index, platelets, D-dimer, serum sodium, third lumbar skeletal muscle index, grip strength, triceps skinfold thickness, and upper arm muscle circumference (all P<0.05). Correlation analysis showed that grip strength, triceps skinfold thickness, upper arm muscle circumference, serum sodium, and depressed mood tendency status were correlated with the development of cirrhotic malnutrition ( P<0.05). The diagnostic model for malnutrition in cirrhosis using these five indicators showed the area under the curve of 81.9%. Conclusions:Depression is closely related to the development of malnutrition in patients with liver cirrhosis. Independent risk factors for malnutrition in cirrhosis include serum sodium≤135 mmol/L, grip strength, triceps skinfold thickness, lower-than-normal upper arm circumference , and the tendency of depression , which demonstrate the combined contribution to the diagnosis of malnutrition in cirrhosis.

OBJECTIVE: To study the correlation of common cardiovascular risk factors with brain iron deposition. METHODS: Eighty-four elderly subjects without neurological diseases or brain trauma were included in the study. The cardiovascular risk factors were comprehensively assessed. MRI examination was performed to obtain high-resolution T1-weighted images and enhanced susceptibility weighted angiography (ESWAN) images, and R2^* figure was obtained by post-processing the ESWAN sequence. High definition T1 images were segmented using computer segmentation technique. After registration to the ESWAN image, R2^* values of each region of interest were extracted. Multiple linear regression analysis was used to analyze the relationship of R2^* values in each area of interest with gender, age and vascular risk factors. RESULTS Smoking was associated with increased R2^* values in the hippocampus, white matter and cortex (β=0.244, 0.317, 0.277, P<0.05 or P<0.01). Hypertension was correlated with the increase of R2^* in the putamen (β=0.241, P=0.027). Hyperglycemia was associated with the increase of R2^* in the thalamus (β=0.234, P<0.05). In the thalamus, the R2^* value of males was higher than that of females (β=0.320, P<0.05). Age was correlated with the R2^* values of thalamus, caudate nucleus, pallidus, white matter and cortex (β=-0.218、-0.254、0.216、-0.280 and -0.238, P<0.05 or P<0.01). CONCLUSIONS Common cardiovascular risk factors may lead to iron deposition in the brain, and the deposition patterns vary with the gender, age and different risk factors.

OBJECTIVE: To systematically evaluate the clinical effect of cultured milk products as adjunctive therapy in the anti- Helicobacter pylori (H. pylori) treatment.
 METHODS: The randomized controlled trials (RCT) and Quasi-randomized controlled clinical trials (Quasi-RCT), which were used to evaluate the efficacy and safety of eradicating H. pylori by fermented milk-based routine treatment, were searched and collected in Pubmed, Embase, CNKI (China National Knowledge Infrastructure), CBM (Chinese BioMedical Literature Database), Wangfang Database, VIP (VIP Citation Database) from establishment of these database to February 2015. The combined relative risk (RR) of H. pylori eradication rate and the rate of side effects were analyzed. Sub-group and sensitivity analysis was performed, and the publication bias was also tested. 
 RESULTS: A total of 9 studies including 1 644 cases were identified. The H. pylori eradication rate was 79.5% in fermented milk products combined with routine therapy, and 67.0% in routine therapy. The combined RR of H. pylori eradication rate was 1.186 (95% CI 1.118-1.257), and the combined RR of total side effects was 0.706 (95% CI 0.373-1.340).
 CONCLUSION Cultured milk products as adjunctive therapy is effective in improving the eradication rate during eradication therapy for H. pylori. However, it could not effectively decrease the risk of side effects.
Animals ; China ; Combined Modality Therapy ; Fermentation ; Helicobacter Infections ; Helicobacter pylori ; Humans ; Milk ; Randomized Controlled Trials as Topic