Objective: To investigate the physical and intellectual development and mutation characteristics of the phenylalanine hydroxylase (PAH) gene among 53 newborns with phenylketonuria (PKU), so as to provide insights into the management and genetic counseling of PKU Methods: The medical records of 54 children with definitive diagnosis of PKU and standardized therapy until 2 years at the Center for Neonatal Disease Screening of Shanxi Children' s Hospital from 2018 to 2021 were collected. Newborns' body weight and height developments were evaluated using the World Health Organization growth chart (2006 version), and the intellectual development was assessed using the national criteria of Development Behavior Assessment Scale among Children at Ages of 0 to 6 Years (WS/T 580-2017). The gene mutations were detected among neonates and their children, and the physical, intellectual developments and genetic characteristics of neonates with PKU were descriptively analyzed. Results: The 53 PKU cases included 29 male children and 24 female children, 36 cases with classic PKU and 17 cases with mild PKU, and 30 cases from rural areas and 23 cases from urban areas. The study subjects had a median age of 30 (10) d at initial therapy, and a mean blood phenylalanine concentration of (1 507±685) μmol/L at definitive diagnosis. There were 52 cases with normal height developments (98.11%), and all cases had normal weight and intellectual developments. The mean developmental functional quotient (DFQ) was significantly greater among urban children with PKU than among rural children [(94.92±8.57) vs. (87.65±6.57); t=-3.498, P=0.001], and the mean DFQ was significantly higher among children with mild PKU than among those with classic PKU [(95.55±8.76) vs. (88.57±7.11); t=-3.095, P=0.003]. There were 37 mutations detected in the PAH gene, which were mainly distributed in exons 3, 6, 7, 11, 12 and intron 4. Three high-frequency mutation sites were detected, including c.728G>A, c.611A>G and c.1197A>T, including three novel mutations (c.674C>G, c.1316-2A>C and c.1069T>C). Conclusions Following standardized treatment, the children with PKU have comparable physical and intellectual developments as compared to normal children. c.728G>A, c.611A>G and c.1197A>T were predominant mutations in the PAH gene among these 53 children with PKU, and three novel mutations were identified, including c.674C>G, c.1316-2A>C and c.1069T>C.

OBJECTIVETo make microscopic identification research of three Echinacea-species roots recorded in the United States Pharmacopeia.

METHODThe root transverse section and powder of E. angustifolia, E. pallida, and E. purpurea were observed. The main microscopic features were photographed.

RESULTThe main microscopic features of transverse section and powder in three Echinacea-species roots are basically similar, except for some diagnostic differences. The results provide reliable reference for the authentication of raw materials of western herbal studies.

Echinacea ; anatomy & histology ; cytology ; Microscopy ; Plant Roots ; anatomy & histology ; cytology ; United States

OBJECTIVE: To analyze the hematological phenotypes of Hb J-Bangkok and concomitant thalassemia. METHODS: In total 72 397 samples were screened by using capillary electrophoresis. Samples with Hb J-Bangkok were identified by DNA sequencing and analysis of red blood cell parameters. Gap-PCR and PCR-reverse dot blotting (PCR-RDB) were used for analyzing the thalassemia genes. RESULTS: Thirty one cases of Hb J-Bangkok were identified, all of which were heterozygotes. The hematological phenotype index (Hb, mean corpuscular volume, mean corpuscular hemoglobin, Hb J-Bangkok, Hb A CONCLUSION Hb J-Bangkok heterozygotes have normal hematological phenotypes, though they may show different hematological characteristics when concomitant with different types of thalassemia, for which genetic counseling should be provided accordingly.
Female ; Hemoglobins, Abnormal/genetics* ; Heterozygote ; Humans ; Male ; Phenotype ; Thailand ; beta-Thalassemia/genetics*

Objective To investigate the clinical effect of respiratory trainer in the patients with acute exacerbation of chronic obstructive pulmonary disease (COPD) undergoing non-invasive positive pressure ven-tilation.Methods A total of 85 patients with COPD undergoing non-invasive positive pressure ventilation ad-mitted and treated in the Affiliated Minda Hospital of Hubei Nationalities University during 2019-2023 were selected as the study subjects and divided into the experiment group and the control group through random number table method.The control group adopted the symptomatic and supportive treatment such as routine non-invasive positive pressure ventilation,anti-infection,preparation aspiration for spasmolysis and eliminating phlegm,while on the base of the control group,the experiment group adopted respiratory trainer (K5) for re-spiratory training each once in the morning and at night.The differences in the related indexes were compared between the two groups.Results The percentage of forced expiratory volume in the first second (FEV1％),forced expiratory volume in 1 second/forced lung capacity (FEV1/FVC),COPD assessment test (CAT) score,modified Medical Research Council Dyspnea Scale (mMRC) score,6-min walking distance (6MWD),SGRQ score,maximum inspiratory pressure (MIP),maximum expiratory pressure (MEP),partial pressure of carbon dioxide (PaCO2) and PaO2 on 3,7 d after treatment in both groups had statistically significant differ-ence compared with before treatment (P<0.05),and the improvement of the above indicators in the experi-ment group was more significant compared with the control group (P<0.05).Conclusion Respiratory train-er could improve the clinical effect and pulmonary ventilation function in the patients with acute exacerbation of COPD undergoing non-invasive positive pressure ventilation.

Objective:To investigated the prevalence of anxiety and depression symptoms in patients with colorectal polyps in part of Xinjiang area and to explore the associated influencing factors related to psychological status, and to provide evidence and clues to promote the diagnosis and treatment of psychosomatic diseases in digestive system.Methods:From December 2021 to June 2022, at the First Affiliated Hospital of Shihezi University, the Fourth Division Hospital of Xinjiang Production and Construction Corps, the Third Division Hospital of Xinjiang Production and Construction Corps (Kashgar Hospital), the Thirteenth Division Red Star Hospital of Xinjiang Production and Construction Corps, the Tenth Division Beitun Hospital of Xinjiang Production and Construction Corps, the Seventh Division Hospital of Xinjiang Production and Construction Corps, the Fifth Division Hospital of Xinjiang Production and Construction Corps, patients who underwent colonoscopy and colorectal polyps detected were enrolled. The generalized anxiety disorder scale-7 (GAD-7) was used to screen anxiety symptoms, and the patient health questionaire-8 (PHQ-8) was performed to screen depression symptoms, and the general situation questionnaire was used to collect clinical information of patients. The questionnairs were completed via the Questionnaire Star platform or paper questionnaire, and a database was established. The patients were divided into groups according to whether with anxiety and depression symptoms. Multivariable logistic regression models was performed to analyze the factors related to anxiety and depression.Results:A total of 516 questionnaires were distributed and collected, among which 9 questionnaires were incomplete and 507 questionnaires were valid, the effective rate of questionnaires was 98.26%. The detection rates of anxiety and depression symptoms in 507 patients with colorectal polyps were 21.50%(109/507) and 19.33%(98/507), respectively. The results of multivariable logistic analysis revealed that female ( OR=3.87, 95% confidence interval (95% CI) 2.30 to 6.51, P<0.001), maximum diameter of polyp ( OR=1.74, 95% CI 1.14 to 2.67, P=0.011), perception of polyps as cancer ( OR=13.96, 95% CI 1.48 to 132.07, P=0.022), and the occurrence of gastrointestinal symptoms after polyp detection ( OR=5.43, 95% CI 1.74 to 16.92, P=0.004) were independent risk factors of anxiety in patients with colorectal polyps. Female ( OR=2.42, 95% CI 1.47 to 4.00, P=0.001), the number of polyps ( OR=1.07, 95% CI 1.01 to 1.13, P=0.028) and the count of gastrointestinal symptoms ( OR=2.04, 95% CI 1.34 to 3.10, P=0.001) were independent risk factors of depression in patients with colorectal polyps. Conclusion:Gender, polyp size, number of polyps, disease perception, and concomitant gastrointestinal symptoms are associated with anxiety and depression in patients with colorectal polyps.