Acute Disease ; Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China ; Humans ; Infant ; Inpatients ; Insecticides ; poisoning ; Middle Aged ; Organophosphorus Compounds ; Pesticides ; poisoning ; Poisoning ; etiology ; mortality ; therapy ; Risk Factors ; Survival Rate

OBJECTIVETo study diagnosis and differential diagnosis of Kallmann syndrome.

METHODSThe examinations including routine karyotyping, sex hormone, GnRH stimulation test and MRI were performed.

RESULTSCytogenetic analysis of his peripheral lymphocyte by G banding showed a normal male karyotype. GnRH stimulation test presented a good reaction. Plasma levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone were very low. Absent olfactory bulb was found by magnetic resonance imaging (MRI).

CONCLUSIONKaryotype analysis, sexual hormone, GnRH stimulation test and MRI are very important the diagnosis of Kallmann syndrome.

Adult ; Diagnosis, Differential ; Follicle Stimulating Hormone ; blood ; Gonadotropin-Releasing Hormone ; analysis ; Humans ; Kallmann Syndrome ; diagnosis ; Karyotyping ; Luteinizing Hormone ; blood ; Magnetic Resonance Imaging ; Male

OBJECTIVETo verify the clinical efficacy of Chinese drugs for benefiting-qi, activating-blood, dissolving phlegm and removing-toxin (CDs) Combined with Conventional Treatment on post-operative vascular restenosis in patients with diabetic lower extremity arterial disease (DLEAD) underwent percutaneous transluminal angioplasty (PTA).

METHODSFifty-six DLEAD patients underwent PTA of below-knee artery were assigned to the treatment group (32 patients) treated by basic therapy combined with CDs and the control group (24 patients) treated by basic therapy only. The changes in symptoms and signs, ankle/brachial index (ABI) and transcutaneous oxygen pressure (TCPO2) of affected limb, and blood flow (BF) in operated vessels checked with color Doppler examination were monitored and analyzed with SPSS software 16. 0.

RESULTSOverall effectiveness, including symptom score, ABI, TCPO2 and BF in patients after operation were all better in both groups significantly (P < 0.05), the improvements began to reveal in 3-6 months, and be stabilized in the treatment group, but declined gradually in the control group after then. So, the effective rate in the treatment group became significantly higher than that in the control group (75.00% vs. 41.67%, P < 0.01) at the end of the 6th month, meanwhile levels of ABI (0.65 +/- 0.12), TCPO2 (68.00 +/- 4.21 mm Hg), and BF (35.00 +/- 2.11 cm/s) in the former were better than those in the control group, respectively (0.44 +/- 0.12, 41.00 +/- 2.02 mm Hg and 21.00 +/- 1.85 cm/s, P < 0.05).

CONCLUSIONCDs shows definite effect in post-PTA prevention of vascular restenosis in DLEAD patients.

Aged ; Aged, 80 and over ; Angioplasty ; Arterial Occlusive Diseases ; drug therapy ; therapy ; Diabetes Mellitus, Type 2 ; physiopathology ; Diabetic Angiopathies ; drug therapy ; physiopathology ; therapy ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Lower Extremity ; blood supply ; Male ; Middle Aged ; Phytotherapy ; Secondary Prevention

In order to explore the transfection and expression of hRI gene on human umbilical blood stem cells, and observe it's effect on the tumor growth. After enriching human umbilical cord blood CD34+ cells with a high-gradient magnetic cell sorting system (MACS), transfected them with supernatant of retrovirus containing human Ribonuclease inhibitor (hRI) cDNA. Hematopoietic progenitor clonogenic assay and PCR were used to evaluate transfection efficiency, and Western-blot and immune fluorescence were used to evaluate the expression quantity of hRI gene after transfection. Observe the effect of RI on the growth of melonoma in B16C57BL mice. The results showed that human umbilical blood CD34+ cells were highly purified by MACS, which made the purity of human umbilical blood CD34+ cells average 96.15%. hRI can be transfected on umbilical blood CD34+ cells, and the transfection efficiency was 35%. The positive expression of hRI gene on transfected CD34+ cells is identified by Western-blot and immune fluorescence assay. Mice injected with transfected CD34+ cells show a significant restraint of the tumor growth, a lower efficiency of tumor formation, a lower weight of the tumor and a longer incubation period of tumor formation with respect to the control groups. The results demonstrated the capacity of RI to inhibited the tumor growth by blocking the vasculature in tumor.
Animals ; Antigens, CD34 ; metabolism ; Cell Proliferation ; drug effects ; Fetal Blood ; cytology ; Genetic Therapy ; Hematopoietic Stem Cells ; metabolism ; Humans ; Melanoma ; pathology ; therapy ; Mice ; Mice, Inbred C57BL ; Nerve Tissue Proteins ; biosynthesis ; genetics ; Transfection ; Tumor Cells, Cultured

OBJECTIVETo evaluate the significance of determining ascitic bacterial 16S rRNA by quantitative PCR combined with microarray (PCR-microarray) in the diagnosis of spontaneous bacterial peritonitis (SBP).

METHODSAscitic bacterial 16SrRNA was determined by real time fluorescent quantitative PCR-microarray in 76 cases of suspected SBP and 6 cases of non-infectious ascites with chronic liver diseases. The results were compared with ascitic bacterial culture simultaneously.

RESULTSOf 76 ascitic samples, 17 were detected bacteria positive by PCR-microarray, including 8 Grams positive(G+) and 9 Grams negative(G-), which was higher than that by bacterial culture which had only 6 ascitic samples detected positive (all G-); the positive rates were 22.4% vs 7.9%, respectively (P < 0.01). The bacterial strains detected by both methods in 6 cases had a consistency with each other. No bacteria were detected in another 6 cases of non-infectious ascites with chronic liver diseases.

CONCLUSIONSDetermination of ascitic bacteria 16S rRNA by PCR-microarray has a higher specificity and sensitivity in the diagnosis of SBP as compared with the bacteria culture. Application of this novel method can not only accelerate SBP diagnosis but also stratify the different pathogens.

Adult ; Aged ; Ascitic Fluid ; microbiology ; Bacterial Infections ; diagnosis ; microbiology ; Female ; Humans ; Liver Cirrhosis ; diagnosis ; microbiology ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Peritonitis ; diagnosis ; microbiology ; Polymerase Chain Reaction ; methods ; RNA, Bacterial ; isolation & purification ; RNA, Ribosomal, 16S ; isolation & purification

Objective:To study the clinical manifestations and genetic characteristics of neonatal-onset primary mitochondrial disease (PMD) caused by nuclear gene mutations.Methods:From May 2020 to March 2022, the clinical data, genetic results and follow-up information of neonates with PMD admitted to the Department of Neonatology of our two hospitals were retrospectively analyzed.Results:A total of 4 patients were enrolled, all with hyperlactatemia and metabolic acidosis. In case 1, the fetal cranial MRI showed agenesis of corpus callosum. In case 2, echocardiography after birth indicated hypertrophic cardiomyopathy. Whole exome sequencing found the following mutations: EARS2 nuclear gene c.1294C>T and c.971G>T variants, COA6 nuclear gene c.411_412insAAAG variant, ACAD9 nuclear gene c.1278+1G>A and c.895A>T variants, FOXRED1 nuclear gene c.1054C>T and c.3dup variants. Mitochondrial second-generation sequencing and multiplex ligation-dependent probe amplification showed no abnormalities. Cases 1 and 3 died during the neonatal period. Case 2 died at 2-year-and-2-month of age. Case 4 was followed up to 1 year of age with developmental delay.Conclusions:The main phenotypes of neonatal-onset PMD caused by nuclear gene mutations are hyperlactatemia, refractory metabolic acidosis and cardiomyopathy, which have a poor prognosis. Proactive genetic tests are helpful for early diagnosis.

The PRR11 gene (Proline Rich 11) has been implicated in lung cancer; however, relationship between PRR11 and immune infiltration is not clearly understood. In this study, we used The Cancer Genome Atlas (TCGA) data to analyze the lung adenocarcinoma patients; PRR11 gene expression, clinicopathological findings, enrichment, and immune infiltration were also studied. PRR11 immune response expression assays in lung adenocarcinoma (LUAD) were performed using TIMER, and statistical analysis and visualization were conducted using R software. All data were verified using Gene Expression Profiling Interactive Analysis (GEPIA), and the Human Protein Atlas (HPA). We found that PRR11 was an important prognostic factor in patients with LUAD. PRR11 expression was correlated with tumor stage and progression. Gene Set Enrichment Analysis (GSEA) showed that PRR11 was enriched in the cell cycle regulatory pathways. Immune infiltration analysis revealed that the number of T helper 2 (Th2) cells increased when PRR11 was overexpressed. These results confirm the role of PRR11 as a prognostic marker of lung adenocarcinoma by controlling the cell cycle and influencing the immune system to facilitate lung cancer progression.
Humans ; Prognosis ; Adenocarcinoma of Lung/genetics* ; Lung Neoplasms/genetics* ; Biological Assay ; Cell Cycle

Public exposure to radon has attracted increasing public concern. The newly issued "Standards for indoor air quality (GB/T 18883-2022)" has revised the radiological parameters of radon. This study analyzed and discussed the relevant technical contents about the derivation of radon limit, including the distribution level for indoor radon, exposure pathway, health effects, and the process for establishing the standard limits. Specific implementation and evaluation suggestions are also proposed.
Humans ; Radon/analysis* ; Air Pollution, Indoor ; China ; Housing