Fragile X syndrome(FXS)is caused by abnormal duplication and amplification of the FMR1 gene CGG.This article reports a pair of brothers diagnosed with FXS by genetic testing.Two patients,aged 15 and 14 years old respectively,both had clinical manifestations such as language disorders,intellectual disabilities,attention deficit disorder,autism spectrum disorder,and FXS's characteristic facial features.The proband had a rare late-onset epileptic seizure,which was well treated with levetiracetam,while his younger brother had no electroencephalogram abnormalities after repeated follow-up.This pair of cases suggests that the clinical phenotype of FXS has diversity and heterogeneity.

Objective To investigate the mechanism by which Colony Stimulating Factor-1(CSF1)inhibits apoptosis in neurons subjected to oxygen-glucose deprivation(OGD).Methods Primary rat cortical neurons were divided into the OGD damaged neuron model group(OGD group),the rh-CSF1 intervention group(rh-CSF1 group),and control group.The sample size for each group was 3.After intervention with recombinant human CSF1(rh-CSF1),neuronal apoptosis rate and intracellular ATP content,reactive oxygen species levels,mitochondrial membrane potential,and mitochondrial DNA copy number were measured.The content of malondialdehyde within mitochondria and the activity of superoxide dismutase were also assessed.Results Intervention with rh-CSF1 increased mitochondrial membrane potential(0.55±0.03 vs.0.43±0.06,P<0.01),mitochondrial DNA copy number(0.88±0.05 vs.0.72±0.06,P<0.05),ATP content[(15.70±0.99)mmol/mg vs.(11.70±1.00)mmol/mg,P<0.01)],and superoxide dismutase[(18.47±1.38)U/mg vs.(14.78±1.81)U/mg,P<0.05)]activity in neurons injured by OGD.It also reduced levels of rectivereactive oxygen species(3.64±0.21 vs.4.45±0.33,P<0.05)and malondialdehyde within mitochondria[(2.13±0.19)mmol/mg vs.(2.78±0.20)mmol/mg,P<0.05)],and inhibited neuronal apoptosis(10.12±0.78 vs.17.04±1.23,P<0.01)Conclusion rh-CSF1 may alleviate the damage in neurons induced by OGD by improving mitochondrial function,reducing oxidative stress,and inhibiting cell apoptosis.

Objective:To automatically synthesize Al 18F-1, 4, 7-triazacyclononane-1, 4, 7-triacetic acid (NOTA)-fibroblast activation protein inhibitor (FAPI)-04, perform PET/CT imaging in vivo, and evaluate its diagnostic efficacy on tumors. Methods:Al 18F-NOTA-FAPI-04 was produced in All-in-one automatic synthesis module and its quality control was conducted by high performance liquid chromatography (HPLC) equipped with a radioactive detector. Al 18F-NOTA-FAPI-04 PET/CT imaging was performed in normal BALB/c mice ( n=3) and 4T1 breast cancer models ( n=3) to determine its biodistribution. Then Al 18F-NOTA-FAPI-04 and 18F-FDG PET/CT imaging were performed in a hepatocellular carcinoma patient (male, 51 years old). Results:The synthesis time of Al 18F-NOTA-FAPI-04 was about 35 min, and the radiochemical yield was (25.2±1.9)% (attenuation correction, n=3). The product was colorless transparent solution with pH value of 7.0-7.5, and the specific activity was (46.11±3.07) GBq/μmol (attenuation correction, n=3). The radiochemical purity was above 99.0% and was still above 98.0% at room temperature after 6 h. PET/CT imaging in mice showed that physiological uptake of Al 18F-NOTA-FAPI-04 was mainly in biliary system and bladder, and Al 18F-NOTA-FAPI-04 highly concentrated in tumor xenografts. PET/CT imaging in the patient showed that Al 18F-NOTA-FAPI-04 obtained high tumor background ratio (TBR) values of 4.1, 8.9, 5.4, 4.8, 2.2 in parasternal lymph nodes, anterior diaphragmatic lymph nodes, hilar lymph nodes, pancreaticoduodenal ligament lymph nodes, abdominal aortic lymph nodes, respectively, while TBR values were 1.0, 2.8, 5.0, 2.1, 1.1 by 18F-FDG. Conclusions:Al 18F-NOTA-FAPI-04 can be synthesized with short time, high radiochemical yield and good stability using All-in-one module. Al 18F-NOTA-FAPI-04 PET/CT imaging has high contrast and excellent diagnostic efficacy on tumors.

Objective:The investigation and research on the application status of Hepatic Venous Pressure Gradient (HVPG) is very important to understand the real situation and future development of this technology in China.Methods:This study comprehensively investigated the basic situation of HVPG technology in China, including hospital distribution, hospital level, annual number of cases, catheters used, average cost, indications and existing problems.Results:According to the survey, there were 70 hospitals in China carrying out HVPG technology in 2021, distributed in 28 provinces (autonomous regions and municipalities directly under the central Government). A total of 4 398 cases of HVPG were performed in all the surveyed hospitals in 2021, of which 2 291 cases (52.1%) were tested by HVPG alone. The average cost of HVPG detection was (5 617.2±2 079.4) yuan. 96.3% of the teams completed HVPG detection with balloon method, and most of the teams used thrombectomy balloon catheter (80.3%).Conclusion:Through this investigation, the status of domestic clinical application of HVPG has been clarified, and it has been confirmed that many domestic medical institutions have mastered this technology, but it still needs to continue to promote and popularize HVPG technology in the future.

Objective:To prospectively follow up the patients with ileocecal inflammatory lesions, to explore the characteristics of Crohn′s disease(CD) at early stage, and to provide references for early diagnosis of CD.Methods:From January 2013 to December 2018, at Department of Gastroenterology, The Seventh Medical Center of PLA General Hospital, 232 patients with unexplained ileocecal inflammatory lesions under colonoscopy examination were enrolled, which were followed up for more than one year. Chi-square test and Fisher exact probability text were used to compare the patients with early CD, with non-specific enteritis and intestinal tuberculosis in abdominal symptoms (abdominal pain, diarrhea, abdominal distension, constipation, hematochezia, changes in bowel habits), accompanying symptoms (oral ulcer, arthralgia), the proportion of patients with elevated erythrocyte sedimentation rate (ESR) or elevated C-reactive protein (CRP) level, serum antineutrophilic cytoplasmic antibody (ANCA), anti-saccharomyces cerevisiae antibody (ASCA), tuberculosis infection of T cells spot test, positive rate of fecal occult blood, lesion size, morphology, involvement site under endoscopy and histopathological results. Multivariate binary logistic regression was used to analyze the related factors of early CD.Results:Among 232 patients, 155 were males and 77 were females, and the age of first diagnosis was (43.9±13.8) years old. The follow-up period (range) was 27 months (12 to 79 months). Twenty-nine cases (12.5%) were diagnosed as early CD, 45 cases (19.4%) were intestinal tuberculosis, 105 cases (45.3%) were non-specific enteritis, and 53 cases (22.8%) as undetermined. All of 29 patients with early CD had abdominal symptoms, which accounted for 16.9% (29/172) of 172 patients with ileoceccal inflammatory lesion as well as abdominal symptoms. In early CD patients, the proportions of patients with abdominal pain, elevated CRP level and ESR level, positive rate of ASCA, positive rate of tuberculosis infection T cells and percentage of patients with thickened intestinal wall were all higher than those in patients with non-specific enteritis (62.1%, 18/29 vs. 33.3%, 35/105; 13.8%, 4/29 vs. 0; 13.8%, 4/29 vs. 1.0%, 1/105; 24.1%, 7/29 vs. 1.0%, 1/105; 20.7%, 6/29 vs. 3.8%, 4/105; 95.7%, 22/23 vs. 0), and the proportion of patients without abdominal symptoms was lower than that of patients with non-specific enteritis (0 vs. 31.4%, 33/105). And the differences were statistically significant ( χ2=6.692, Fisher exact probability text, χ2=7.162, χ2=17.826, χ2=7.497, Fisher exact probability text, and Fisher exact probability text, all P<0.05). Early CD patients were more likely to have multiple lesion sites (55.2%, 16/29), and mainly deep ulcers (55.2%, 16/29) and ulcers with a long diameter of 5 to 10 mm (39.3%, 11/28). The lesions of non-specific enteritis were mostly confined to the end of ileum (75.2%, 79/105), which were mainly superficial ulcers (41.0%, 43/105) and ulcers with a long diameter less than 5 mm (69.0%, 49/71). The proportion of patients without abdominal symptoms and the positive rate of tuberculosis infection of T cells spot test of early CD patients were both lower than those of intestinal tuberculosis group (0 vs. 15.6%, 7/45 and 20.7%, 6/29 vs. 68.9%, 31/45). The positive rate of ASCA and the proportion of patients with thickened intestinal wall were higher than those of intestinal tuberculosis group (24.1%, 7/29 vs. 0 and 95.7%, 22/23 vs. 11/19), and the differences were statistically significant (Fisher exact probability text, χ2=13.713, Fisher exact probability text and χ2=6.710, all P<0.05). The results of multivariate binary logistic regression analysis showed that abdominal pain and positive ASCA were independent risk factors for early CD (odds ratio ( OR)=2.855, 95% confidence interval ( CI) 1.014 to 8.037, P=0.047; OR=10.033, 95% CI 2.274 to 44.250, P=0.002). Conclusions:Prospective follow-up for more than one year in patients with unexplained ileocecal inflammatory lesions can effectively identify and diagnose early CD. Ileocecal inflammatory lesions with abdominal symptoms are one of the early manifestations of CD. Abdominal pain and positive serum ASCA at the initial diagnosis are independent risk factors for early diagnosis of CD.

Objective: To synthesize and analyze ¹⁸F-prostate specific membrane antigen (PSMA)-1007, followed by its imaging in prostate cancer. Methods: Based on one-step method, ¹⁸F-PSMA-1007 was produced by the CFN-MPS-200 automatic synthesis module and its quality analysis was conducted. ¹⁸F-PSMA-1007 PET/CT imaging was performed in a prostate cancer patient (66 years old). Results: The synthesis time of ¹⁸F-PSMA-1007 was about 50 min, and the radiochemical yield was (25.0±5.0) % (attenuation correction, n=3). The radiochemical purity was above 99.0% and was above 98.0% after 6 h. The product was colorless transparent solution with pH value of 7.0-7.5, and the specific activity was (410.0±11.0) MBq/ml and the radioactive nuclear purity was above 99.0%. PET/CT imaging in the patient showed that ¹⁸F-PSMA-1007 was highly concentrated in prostate cancer with maximum standardized uptake value (SUV_max) of 40.9. Conclusion Based on CFN-MPS-200 multifunction synthesis module, ¹⁸F-PSMA-1007 can be stably synthesized with high radiochemical yield and can be concentrated in prostate cancer.

ObjectiveTo analysis the clinic outcome(similarities & differences, indication and caution)of repairing fingertip soft tissue defect with two kind of reverse digital artery island flaps with the palmar cutaneous branch of proper digital nerve.MethodsFrom January 2000 to Auguest 2008, all 500cases (514 fingers) were repaired with reverse homodigital artery island flap (263 fingers of 250 cases) and reverse cross finger digital artery island flap(251 fingers of 250 cases).All cases were followed up from 3-8years,compared with flap range,finger extension,sensory rehabilitation,et al. ResultsAll flaps (A & Bgroup) of 500 cases (514 fingers) survived.According to flap range,cross finger flap was better than homodigital flap (P ＜ 0.05); according to finger extension,homodigital flap better than cross finger flap (P ＜0.05); according to sensory rehabilitation,homodigital flap little better than cross finger flap(P ＜ 0.05); according to long-term follow-up, all had no obviously different (P ＞ 0.05).ConclusionHomodigital flap can cover distal soft tissue defect less than 2.0 cm× 2.5 cm, cross finger flap is a better choice for more than 2.0cm×3.0cm of distal soft tissue defect. According to the flap cover area, cross finger flap is first choice,and to finger extension & sensory rehabilitation,homodigital flap is first choice; accoding to finger movements,two kinds of flaps are all good choice.

Objective To investigate the effects of estrogen on mismatch repiar gene expression in colonic mucosa in vivo. Methods A total of 42 healthy individuals underwent colonoscopy were enrolled in the study. Half an hour before colonoscopy examination, blood sample was taken for determining the serum estradiol (E2) level. N ormal colonic mucosal tissues determined by naked eye under colonoscopy examination were taken in the right hemi colon to detect HMLH1 and hMSH2 gene expression by semi-quantitative RT-PCR and immunohistochemistry staining. Then the correlation of serum E2 levels with hMLH1 and hMSH2 expression in colonic mucosa was analyzed. Results A bimodal curve was presented for the correlation between serum E2 level in healthy individuals and hMLH1 expression in colonic mucosa. A strong positive correlation of E2 level with hMLH1 expression in normal colonic mucosa was observed when serum E2 level was more than 45 pg/ml (For mRNA, P=0. 003, r=0. 701; for immunohistochemistry positivity index, P=0. 000, r=0. 874).However there was no correlation between E2 level and hMSH2 expression. Conclusion High serum E2 level might increase the hMLH1 gene expression in colonic mucosa in vivo.

In order to investigate the relationship between the expression of cyclin A and drug resistance in adult patients with acute leukemia (AL), the mRNA expression of cyclin A, mdr1, Top II alpha, bcl-2 was detected in 64 adult patients with AL and 20 normal controls by semi-reverse transcription polymerase chain reaction (semi-RT-PCR). It was found that the cyclin A and Top II alpha mRNA expression levels in drug resistant group were significantly lower than in sensitive group (P < 0.01). Under the same experimental condition no cyclin A mRNA expression was detectable in all normal controls. The mdr1 and bcl-2 mRNA expression levels in resistant group were significantly higher than in sensitive group (P < 0.01), cyclin A and Top II alpha gene expression levels were closely correlated (rs = +0.794, P = 0.000, n = 64) in all AL patients, but cyclin A was not correlated with mdr1 and bcl-2 gene expression levels. In drug resistant group there was a negative correlation between the gene expression levels of cyclin A and mdr1 (rs = -0.337, P = 0.029). The 10 AL patients with positive lower expression of both cyclin A and Top II alpha were all resistant to drugs. Logistic regression of Binary analysis showed the correlation between the lower expression of cyclin A and drug resistance. It was concluded that lower expression of cyclin A gene might be an unfavorable prognostic factor for patients with AL, and detection of both cyclin A and Top II alpha gene expression would predict drug resistance in AL patients.
ATP-Binding Cassette, Sub-Family B, Member 1 ; genetics ; Adolescent ; Adult ; Aged ; Cyclin A ; biosynthesis ; genetics ; Drug Resistance, Multiple ; genetics ; Drug Resistance, Neoplasm ; genetics ; Female ; Genes, MDR ; genetics ; Humans ; Leukemia, Myeloid, Acute ; genetics ; Leukemia, Promyelocytic, Acute ; genetics ; Male ; Middle Aged ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics ; RNA, Messenger ; biosynthesis ; genetics

OBJECTIVETo investigate the relationship between the expression of cyclin A and drug resistance in patients with adult acute leukemias.

METHODSThe mRNA expressions of cyclin A, mdr1, Topo II alpha and bcl-2 were measured in 64 patients with adult acute leukemia (AL) and 20 normal subjects by semi-quantitative reverse transcriptase polymerase chain reaction (RT-PCR).

RESULTS(1) The cyclin A and Topo II alpha mRNA expression levels in the treatment resistant group were significantly lower than that in the sensitive group (P < 0.01). There was no cyclin A mRNA expression in the 20 normal subjects under the same experiment condition. (2) The mdr1 and bcl-2 mRNA expression levels in the resistant group were significantly higher than that in sensitive group (P < 0.01). (3) Cyclin A and Topo II alpha gene expression levels were positively correlated (r = 0.794, P = 0.000) in the 64 AL patients, and there was a negative correlation between the gene expression levels of cyclin A and mdr1 (r = -0.337, P = 0.029) in the drug resistant group. (4) Ten AL patients with low expressions of both cyclin A and Topo II alpha were all in the resistant group. Logistic regression of binary analysis showed a significant correlation between the low expression of cyclin A and drug resistance.

CONCLUSIONLow expression of cyclin A gene might be a unfavorable prognostic factor for patients with AL and measurement of both cyclin A and Topo II alpha gene expression would predict drug resistance for AL patients.

ATP-Binding Cassette, Sub-Family B, Member 1 ; genetics ; metabolism ; Acute Disease ; Adult ; Antigens, Neoplasm ; Cyclin A ; genetics ; metabolism ; DNA Topoisomerases, Type II ; genetics ; metabolism ; DNA-Binding Proteins ; Drug Resistance, Multiple ; genetics ; physiology ; Drug Resistance, Neoplasm ; physiology ; Female ; Humans ; Leukemia ; genetics ; metabolism ; Logistic Models ; Male ; Proto-Oncogene Proteins c-bcl-2 ; genetics ; metabolism ; RNA, Messenger ; biosynthesis