Objective To assess effectiveness of implementation of non-pharmaceutical treatment in a standardized community-based hypertension management program in China.MethodsA protocol of standardized community-based hypertension management was developed based on current guidelines for prevention and treatment of hypertension in China.Physicians in community health-care service centers at the grassroots across China were trained in a standardized way using this protocol during 2005 to 2008,and then the trainees were required to manage hypertensive patients according to the protocol.Hypertensive patients eligible for criteria of inclusion and under management for more than one year were analyzed to observe changes in their behavioral risk factors,pharmaceutical and non-pharmaceutical treatment,and effectiveness of blood pressure lowering.ResultsBy the end of 2008,a total of 29 411 hypertensive patients had been managed for one year according to the protocol and 20 077 patients with complete data (47.1％ for male)with mean age of 61±11 years were eligible for analysis.After standardized management of one year,prevalence of smoking,alcohol drinking and proportion of patients who preferred salty diet decreased from 17.7 percent,18.1 percent and 32.8 percent to 8.9 percent,8.7 percent and 15.8 percent,respectively(P＜0.01).Srstolic blood pressure(BP)decreased by 11.6[95％confidence interval(CI)10.8-12.4]mm Hg(1 mm Hg=0.133 kPa),13.7(95％CI 13.3-14.1)mm Hg and 15.2(95％CI14.8-15.6)mmHg in the patients with non-pharmaceutical therapy,pharmaceutical therapy and both,respectively；and diastolic BP decreased by 7.5(95％CI6.9-8.1)mm Hg,8.3(95％CI8.1-8.5)mmHg and 8.0(95％CI7.8-8.2)mm Hg in the three groups,respectively.During the one-year period of management,proportion of the patients with appropriate non-pharmaceutical therapy increased continuously.By the end of one-year management,59.5 percent of smoked patients were required to quit their smoking,55.5 percent of alcohol drinkers were required to limit their drinking,52.3 percent of overweight and obese patients were required to reduce their weight and 47.3 percent of patients with physical exercises less than three times a week were required to increase their regular physical activity.However,certain proportion of the patients with risk factors did not receive appropriate non-pharmaceutical therapy.Conclusion Guideline-oriented hypertension management succeeded in lifestyle changes among the patients,but it is a gradual process to its full implementation.

Objective To investigate the clinical and biochemical metabolic features of 12 patients with systemic primary carnitine deficiency(CDSP) and to identify the SLC22A5 gene mutation types of the disease. Method The clinical and biochemical data were collected by retrospective analysis. DNA direct sequencing and multiplex ligation dependent probe amplification(MLPA)were applied for SLC22A5 gene analysis. Result Among 12 patients with CDSP, 3 cases had evident infection factors, 6 cases with convulsions, 5 cases manifested liver hypertrophy, 8 cases with hyperammonemia, and 9 cases showed myocardial damage. All CDSP patients were detected biallelic pathogenic mutation in SLC22A5 gene by direct sequencing. The gene types include IVS2+1G>T, c.3G>T(p.Met1Ile), c.760C>T(p.Arg254X), c.1400C>G(p.Ser467Cys), c.844dupc(p.Arg282fs), c.338G>A(p.Cys113Tyr), c.51C>G(p.Phe17Leu), c.659A>T(p.Glu220Val), and c.1365dupC(p.Thr456fs). c.659A>T(p.Glu220Val) and c.1365dupC(p.Thr456fs)are novel mutations. One female patient was maternal CDSP, her child had abnormal newborn screening. The allele frequency of c.760C>T(p.Arg254X) and c.1400C>G(p.Ser467Cys) were 37.5%(9/24)and 29.2%(7/24)respectively. The MLPA test results of all patients were negative. Conclusion The clinical manifestations are complex and various in patients with CDSP. Point and small InDel(insertions/deletions)mutation constitute the major alteration in SLC22A5 gene. c.1400C>G(p.Ser467Cys) might be another prevalence mutation type in Chinese CDSP patient.

This study sought to producte alginate sodium microsphere for controlled release bovine serum albumin(BSA) and to investigate the protein release profile of the BSA-alginate sodium microsphere in vitro, which threw some light on the angiogenesis of tissue engineering bone with vascular endothelial growth factor (VEGF) controlled release under stress. The BSA-alginate sodium microsphere was fabricated with W/O emulsification and ion cross-linking method using alginate sodium. The appearance, microsphere diameter and envelopment rate were detected, and the release characteristics of the BSA-alginate sodium microsphere in vitro was investigated. The alginate microsphere was found to be spherical in shape and evenly distributed. Its mean grain diameter was determined to be 230 +/- 60 microm, carrying capacity 80.3 microg/mg and envelopment rate 61%. Smooth controlled release in BSA-alginate sodium microsphere was shown to last more than 2 weeks. Alginate sodium proved an excellent biodegradable material for protein or polypeptide controlled release. The emulsification and ion cross-linking method was noted to be simple; it was propitious to the structural and functional stablility of protein or polypeptide, thus leading to the prolonged efficacious time of the microsphere.
Alginates ; administration & dosage ; chemistry ; Animals ; Cattle ; Delayed-Action Preparations ; chemical synthesis ; Drug Carriers ; Glucuronic Acid ; administration & dosage ; chemistry ; Hexuronic Acids ; administration & dosage ; chemistry ; Microspheres ; Serum Albumin, Bovine ; administration & dosage

In this paper, We designed and accomplished a low frequency pulsed strong magnetic fields generator, which provides a pulsed magnetic field with the intensity range from 0.1-2.5 T and the adjusted time interval of pulse. This device is easy to operate and performs reliably. It can work steady for a long time and has been successful used in the experiments of biological effects of electromagnetics.
Electromagnetic Phenomena ; instrumentation ; Equipment Design ; Software Design

OBJECTIVETo analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).

METHODSGenomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSDNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time.

CONCLUSIONAmong Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.

Child, Preschool ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Decarboxylase ; genetics ; Mutation ; Propionic Acidemia ; genetics

OBJECTIVETo identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250).

METHODSGenomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSBased on DNA sequence analysis, all of the three patients have carried OTC gene mutations. Patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). A novel mutation c.800G> C(p.S267T) were confirmed in patient 3.

CONCLUSIONp.S267T mutation has affected the conserved amino acid motif of the OTC protein, and is therefore a pathogenic mutation.

Age of Onset ; Amino Acid Sequence ; Base Sequence ; Child ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation ; Ornithine Carbamoyltransferase ; genetics ; Ornithine Carbamoyltransferase Deficiency Disease ; epidemiology ; genetics ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid

Objective:To summarize the experience and effect of mitral valvuloplasty in the treatment of mitral valve disease in infants.Methods:The clinical data of 140 infants with mitral valve disease from June 2010 to June 2020 were retrospectively analyzed. There were 62 males and 78 females, with body weight of(6.4±1.4)kg and age of(196.6±80.1)days. Among them, 131 cases were moderately or above mitral insufficiency, and 9 cases were mitral stenosis. The perioperative and follow-up clinical data were recorded, and the therapeutic effect and prognostic factors of mitral valve plastic surgery were analyzed.Results:All 140 children were received surgery of mitral valve repair under cardiopulmonary bypass. Cardiopulmonary bypass time was(79.1±41.9)min, aortic cross clamp time was(46.8±20.0)min, 7(5%)early death. Mechanical ventilation time was(74.2±149.8)h. After surgery, mild mitral regurgitation was found in 48 cases, mild-moderate regurgitation in 53 cases, moderate regurgitation in 32 cases, moderate-severe regurgitation in 6 cases, severe regurgitation in 1 case, with no mitral stenosis. During the follow-up period of 6-126 months, 3 cases died in the long term, and 11 cases were reoperated. Freedom from >moderate mitral regurgitation at 5 years after surgery was 81.2%. Longer cardiopulmonary bypass time and postoperative mitral regurgitation were risk factors for death and moderate or above regurgitation at the follow-up.Conclusion:Mitral valvuloplasty can effectively treat the mitral regurgitation and stenosis in infants. The prognosis of children with short cardiopulmonary bypass time and good valve plastic effect is better. For infants with Carpentier type I, good shaping effect can be achieved by mitral annuloplasty alone, while for type Ⅱ and type Ⅲ, treatment should be tailored to deal with the problems at all levels of the valve, and additional annuloplasty should be performed.

Objective:To summarize single-center experience and short-term outcomes of surgical treatment of pediatric cardiac fibromas.Methods:There was a retrospective study of 10 patients who underwent surgical treatment of cardiac fibromas between January 2018 and October 2021. Fibromas were located in the left ventricle in 7 cases, and in the right ventricle in 3 cases. Mean tumor diameter was(5.6±2.0) cm.Results:Median age at surgery was 3.1 years old(5 months-9 years old). Nine patients received complete resection, and the other one received partial resection. One patient with giant left ventricular fibroma required extracorporeal membrane oxygenation support for ventricular fibrillation after weaning from cardiopulmonary bypass, and was successfully weaned on the third postoperative day. There was no early mortality. Median follow-up time was 6 months(1 month-3 years). No tumor recurrence nor ventricular arrhythmia was documented during the follow-up period.Conclusion:Pediatric cardiac fibromas can be usually treated by complete resection, with relief of cardiac dysfunction and ventricular arrythmia after surgery, and with satisfactory results.

OBJECTIVETo detect potential mutations of Y9ASS1, ASL and SLC25A13 genes in four patients manifesting citrullinemia.

METHODSGenomic DNA was extracted from peripheral blood leukocytes. Exons and their flanking sequences of the three genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSBased on DNA sequence analysis, one case was diagnosed with argininosuccinate synthetase deficiency, and the mutation type (ASS1 gene) was c.236C>T (p.S79F) + c.431C>G (p.P144R). Two cases were diagnosed with argininosuccinic aciduria (ASL gene), and their gene mutations were c.434A>G (p.D145G) + c.1366C>T (p.R456W) and c.331C>T (p.R111W) + IVS8+2insT, respectively. A thirteen months boy who carried a heterozygous 851del4 mutation (SLC25A13 gene) was diagnosed with citrullinemia adult-onset type II.

CONCLUSIONThrough analysis of relevant pathogenic genes, four patients have been diagnosed.

Adult ; Amino Acid Sequence ; Argininosuccinate Lyase ; genetics ; metabolism ; Argininosuccinate Synthase ; genetics ; metabolism ; Base Sequence ; Citrullinemia ; enzymology ; genetics ; Female ; Humans ; Infant ; Male ; Mitochondrial Membrane Transport Proteins ; genetics ; metabolism ; Molecular Sequence Data ; Pedigree ; Point Mutation

Temporomandibular joint (TMJ) diseases are common clinical conditions. The number of patients with TMJ diseases is large, and the etiology, epidemiology, disease spectrum, and treatment of the disease remain controversial and unknown. To understand and master the current situation of the occurrence, development and prevention of TMJ diseases, as well as to identify the patterns in etiology, incidence, drug sensitivity, and prognosis is crucial for alleviating patients′suffering.This will facilitate in-depth medical research, effective disease prevention measures, and the formulation of corresponding health policies. Cohort construction and research has an irreplaceable role in precise disease prevention and significant improvement in diagnosis and treatment levels. Large-scale cohort studies are needed to explore the relationship between potential risk factors and outcomes of TMJ diseases, and to observe disease prognoses through long-term follw-ups. The consensus aims to establish a standard conceptual frame work for a cohort study on patients with TMJ disease while providing ideas for cohort data standards to this condition. TMJ disease cohort data consists of both common data standards applicable to all specific disease cohorts as well as disease-specific data standards. Common data were available for each specific disease cohort. By integrating different cohort research resources, standard problems or study variables can be unified. Long-term follow-up can be performed using consistent definitions and criteria across different projects for better core data collection. It is hoped that this consensus will be facilitate the development cohort studies of TMJ diseases.