OBJECTIVETo investigate the correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase (PAH) in patients with phenylketonuria (PKU).

METHODSThirteen exons and flanking introns of PAH gene in 102 patients with high blood phenylalanine levels (Phe > 120 umol/L) at initial diagnosis were amplified with polymerase chain reaction and analyzed with single strand conformation polymorphism (SSCP), denaturing high performance liquid chromatography (DHPLC) and DNA sequencing. Correlation between genotypes and biochemical phenotypes was analyzed.

RESULTSBiochemical assaying has indicated that 69 patients had classical PKU (Phe> 1200 umol/L), 31 were moderate (Phe 600-1200 umol/L), and 2 were mild (Phe 400-600 umol/L). More than 41 mutations and 75 genotypes have been identified. There were 9 (8.8%) homozygous mutations, which included 3 cases with R111X/R111X, 1 case with IVS4-1G>A/IVS4-1G>A, 3 cases with R243Q/R243Q and 2 cases with V399V/V399V. Among these 8 belonged to classic PKU phenotypes, except for a R243Q/R243Q genotype which has led to a moderate phenotype. In 91 patients carrying compound PAH mutations, 61 were classic, 29 were moderate, and 1 was mild. Patients who were heterozygous for R111X/R243Q and EX6-96A>G(Y204C)/R243Q were found with both classic and moderate PKU phenotypes. Certain individuals who have carried 2 null mutant alleles such as R111X/V399V, EX6-96A>G/Y356X and EX6-96A>G/V399V only showed a moderate phenotype. Individuals with R111X/A165D and R176X/A165D genotypes, on the other hand, respectively presented moderate and classic PKU phenotypes.

CONCLUSIONNinety percent of our patients are compound heterozygotes. Independent assortment of mutant alleles has resulted in a complex genotype-phenotype correlation. Although in most cases a correlation may be found, caution should still be taken upon genetic counseling. The phenomena where similar or even identical genotype may give rise to different biochemical phenotypes have implied that other factors may also influence the phenylalanine metabolism.

Adolescent ; Alleles ; Child ; Child, Preschool ; Exons ; Female ; Gene Frequency ; Genetic Association Studies ; Genotype ; Humans ; Infant ; Infant, Newborn ; Introns ; Male ; Mutation ; Phenotype ; Phenylalanine Hydroxylase ; genetics ; metabolism ; Phenylketonurias ; genetics ; metabolism

Objective: To summarize the key points of high SMAS facelift. Methods: Forty-six patients who had received high SMAS facelift were included in this study. All the patients had subcutaneous dissection by classic facelift incision. The temporal region dissection was performed superficial to middle temporal fascia to avoid temporal branches injury. The zygomatic ligaments were released by sharp and blunt dissection at malar prominence and zygomatic arch. After sub-SMAS dissection, a complete SMAS-platysma flap was raised including temporal, malar, lower face, neck, and one third or half of the midface. Results: Forty patients had postoprative follow-up for more than one year. Twenty patients showed " excellent" results, eighteen patients had " good" results , two patients " common" . The good and excellent rate was 95%. Conclusions The key points of high SMAS facelift to achieve ideal outcome depend on the safe dissection of superficial temporal fascia and the release of zygomatic ligaments.

To test the hypothesis that concentration polarization of atherogenic lipids may occur in the arterial system and play an important role in localization of atherosclerosis, we simulated and measured in vitro the luminal surface concentration of low density lipoprotein (LDL) in local stenosis at the distal end of carotid artery by number simulation and laser scanning confocal microscopy, then we designed carotid stenosis model to test the role of LDL concentration polarization in atherogenesis. The in vitro experiment showed that the luminal surface LDL concentration was higher than the bulk concentration as predicted by the concentration polarization theory. The relative luminal surface LDL concentration changed with the flow velocity and ratio of stenosis. The wall concentration of LDL was highest in the round tube with 40% stenosis at the same velocity, while the wall concentration of LDL was higher when Re was 250 than Re was 500 at the same extent of narrowness. The animal experiment also revealed that general atherogenic plaques obviously occurred at the distal end of local stenosis where concentration polarized. The results strongly support our hypothesis that concentration polarization of lipoproteins occurs in local stenosis at the distal end of carotid artery, and this in turn promotes the localization of atherosclerosis which develops in the arterial system.
Animals ; Atherosclerosis ; physiopathology ; Carotid Stenosis ; physiopathology ; Disease Models, Animal ; Lipoproteins, LDL ; metabolism

Benign prostatic hyperplasia （BPH）， a common disease in urology and andrology， is mainly manifested as enlarged prostate glands， bladder outlet obstruction， and lower urinary tract symptoms（LUTS）， which seriously affects the quality of life of middle-aged and elderly men. This disease falls into the categories of "retention of urine" and "prostatic hypertrophy" in traditional Chinese medicine （TCM）. In recent years，many doctors have put forward their understandings of BPH based on academic classics and their clinical experience. Clinical research on the treatment of BPH with TCM has become increasingly abundant. The basic pathogenesis of BPH lies in the disturbance of Qi transformation in the bladder and poor blood circulation due to kidney Qi deficiency in the aged. The disease is located in the kidney and the bladder and is related to the dysfunction of the lung and the kidney. It is basically characterized by deficiency in origin and excess in superficiality. A large number of clinical research reports have proved that TCM is efficient in alleviating the clinical symptoms of BPH patients， improving their quality of life， reducing the volume of the prostate， and decreasing postoperative complications. In addition， the external treatment methods of TCM， such as acupuncture therapy， moxibustion， hot water bathing， acupoint application， anal suppository， and enema therapy， are also widely used in clinical practice， demonstrating the diverse ways of TCM in treating BPH. TCM and western medicine complement each other's advantages in the treatment of BPH， thus enhancing the clinical efficacy and reducing the occurrence of long-term complications. This study reviewed the etiology， pathogenesis， and treatment progress of BPH with TCM in recent years， and summarized the current research status. From three aspects of producing high-quality clinical research， standardizing the clinical diagnosis and treatment of TCM， and combining cutting-edge research to explore the mechanism of TCM， it provided suggestions for clinical research on the treatment of BPH with TCM to promote the development and application of TCM in the treatment of this disease.

OBJECTIVES: Based on peripheral blood lymphocyte subsets and common laboratory test indexes, this study aimed to construct a predictive scoring system for intravenous immunoglobulin (IVIG)-resistant Kawasaki disease (KD). METHODS: Children hospitalized in Tianjin Children's Hospital from January 2021 to March 2023 were included in the study (185 cases of IVIG-sensitive KD and 41 cases of IVIG -resistant KD). Forty-six healthy children matched for age and gender were selected as controls. The relative percentage and absolute counts of peripheral lymphocyte subsets were measured by flow cytometry. Multivariate logistic regression was used to identify the predictive factors for IVIG-resistant KD and to construct a predictive scoring system for predicting IVIG-resistant KD. RESULTS: The multivariate logistic regression analysis showed that CD4⁺ T cell absolute count, natural killer cell absolute count, serum sodium level, globulin level, and total bilirubin level were identified as predictive factors for IVIG-resistant KD (P<0.05). The predictive scoring system based on these factors achieved a sensitivity of 70.7% and a specificity of 83.8% in predicting IVIG-resistant KD. CONCLUSIONS Peripheral blood lymphocyte subsets can serve as predictive indicators for IVIG-resistant KD in children. The introduction of this indicator and the establishment of a scoring system based on it can provide a higher accuracy in predicting IVIG-resistant KD in children.
Child ; Humans ; Infant ; Immunoglobulins, Intravenous/therapeutic use* ; Mucocutaneous Lymph Node Syndrome/drug therapy* ; Lymphocyte Count ; Lymphocyte Subsets ; Retrospective Studies

OBJECTIVES: To investigate the clinical treatment outcomes and the changes of the outcomes over time in extremely preterm twins in Guangdong Province, China. METHODS: A retrospective analysis was performed for 269 pairs of extremely preterm twins with a gestational age of <28 weeks who were admitted to the department of neonatology in 26 grade A tertiary hospitals in Guangdong Province from January 2008 to December 2017. According to the admission time, they were divided into two groups: 2008-2012 and 2013-2017. Besides, each pair of twins was divided into the heavier infant and the lighter infant subgroups according to birth weight. The perinatal data of mothers and hospitalization data of neonates were collected. The survival rate of twins and the incidence rate of complications were compared between the 2008-2012 and 2013-2017 groups. RESULTS: Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of severe asphyxia and smaller head circumference at birth (P<0.05). The mortality rates of both of the twins, the heavier infant of the twins, and the lighter infant of the twins were lower in the 2013-2017 group compared with the 2008-2012 group (P<0.05). Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of pulmonary hemorrhage, patent ductus arteriosus (PDA), periventricular-intraventricular hemorrhage (P-IVH), and neonatal respiratory distress syndrome (NRDS) and a higher incidence rate of bronchopulmonary dysplasia (P<0.05). CONCLUSIONS There is a significant increase in the survival rate over time in extremely preterm twins with a gestational age of <28 weeks in the 26 grade A tertiary hospitals in Guangdong Province. The incidences of severe asphyxia, pulmonary hemorrhage, PDA, P-IVH, and NRDS decrease in both the heavier and lighter infants of the twins, but the incidence of bronchopulmonary dysplasia increases. With the improvement of diagnosis and treatment, the multidisciplinary collaboration between different fields of fetal medicine including prenatal diagnosis, obstetrics, and neonatology is needed in the future to jointly develop management strategies for twin pregnancy.
Bronchopulmonary Dysplasia/epidemiology* ; Female ; Gestational Age ; Humans ; Infant ; Infant, Extremely Premature ; Infant, Newborn ; Pregnancy ; Respiratory Distress Syndrome, Newborn/epidemiology* ; Retrospective Studies ; Treatment Outcome

This study was purposed to establish a convenient and efficient method for isolating and culturing mouse bone marrow mesenchymal stem cells (MSC). The femurs and tibias of mouse were taken under sterile condition. MSC were isolated and cultured with flushing- out bone marrow or collagenase-digested bone fragment or bone marrow plus bone fragment. MSC colony number and size were compared. Immunophenotype and differentiation ability were tested to identify MSC. The results showed that colonies from bone marrow plus bone fragment group came out earliest and the colony number was 20 ± 4 at day 4; there were 11.5 ± 2.5 colonies in collagenase-digested bone fragment group and 9.5 ± 1.5 in flushing- out bone marrow group. The total cell yields of MSC after passaging showed best in bone marrow plus bone fragment group. Flow cytometry data showed the cultured cells expressed Sca-1, CD44 and CD29, not expressed pan-leukocyte surface marker CD45 and endothelial cell marker CD31. The isolated and cultured MSC could differentiate into osteoblast at the osteogenic differentiation condition, or adipocyte at adipogenic differentiation condition. It is concluded that the method of bone marrow plus bone fragment is convenient and efficient for isolating and culturing MSC.
Animals ; Bone Marrow Cells ; cytology ; Cell Culture Techniques ; methods ; Cell Separation ; methods ; Mesenchymal Stromal Cells ; cytology ; Mice ; Mice, Inbred C57BL

OBJECTIVE: To observe the impact of energy saving light,incandescent light and circadian light on the ethology of depressive rats and explore its possible mechanism on affecting the secretion of melatonin. METHODS: Thirty rats aged 6weeks were randomly selected from 40 specific pathogen free health female SD rats after they adapted to the living environment,depressive rat models were established in the rats by bilateral ovariectomy combined with isolated living and chronic unpredictable mild stress stimulation at the age of 11-14 weeks. Then these 30 ovariectomized rats were randomly divided into 3 intervention groups,including an energy saving light group,an incandescent light group and a circadian light group,with 10 rats in each group. The rats in these 3 groups were given specific experimental light intervention for 3 weeks respectively at the age of 17 weeks. The other 10 rats were raised in conventional environment as the control group. Their body weights were measured at the age of 17,19,20 and 21 weeks. The ethology tests were carried out by sucrose preference test and the open-field test at the age of 7,14 and 20 weeks respectively. The melatonin levels in peripheral blood of 7 time points from 19: 30 to 8: 30 were measured in the rats at age of 21 weeks. One rat in each group at every time point was randomly selected for examination. RESULTS: At the age of 17 weeks before light-intervention,the body weights of rats in 4 groups showed no significant difference( P > 0. 05). After light-intervention,at the age of 17-20 weeks,the body weights of rats in 3 intervention groups were gradually increased with the increase of age( P < 0. 05).There was no significant difference between body weights of rats at the age of 21 weeks and those at the age of 20 weeks in each group( P > 0. 05). At age of 7 weeks,no significant differences were found in sucrose consumption and standing scores among these 4 groups( P > 0. 05). After the depressive models were established,at the age of 14 weeks before light-intervention,in rats of these 3 intervention groups,the sucrose consumption and standing scores were lower than those of the control group( P < 0. 05),and there was no significant difference found in the above 2 indexes among these 3intervention groups( P > 0. 05). At the age of 20 weeks after light-intervention,the sucrose consumption and standing scores were not significantly different from each other among the 4 groups( P > 0. 05). The peak levels of melatonin in the peripheral blood of rats in these 3 intervention groups were higher than that in the control group. The peak levels onsets of melatonin in peripheral blood of rats in the circadian light group and the energy saving light group were earlier or 2 hours delayed compared to that of control group,while it was similar between the incandescent light group and control group.CONCLUSION: The circadian light,the energy saving light and the incandescent light are similarly effective in improving the behaviors of depressive rats. The circadian light can delay the onset of peak level of melatonin in peripheral blood.