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1.
Chinese Journal of cardiovascular Rehabilitation Medicine ; (6): 360-364, 2019.
Article in Chinese | WPRIM | ID: wpr-753131

ABSTRACT

Objective :To explore therapeutic effect of compound Danshen dripping pills combined atorvastatin on cor-onary heart disease (CHD) complicated hyperlipidemia and its influence on serum level of tumor necrosis factor-re-lated apoptosis inducing ligand (TRAIL).Methods : A total of 109 CHD patients with hyperlipidemia treated in our department of cardiology were collected ,randomly divided into atorvastatin group (n=57) and combined treatment group (n= 52 ,received atorvastatin combined compound Danshen dripping pills ) ,both groups were continuously treated for three months .Cardiac function ,levels of blood lipids ,serum tumor necrosis factor (TNF)-α ,TRAIL and quality of life (QOL ) were measured and compared between two groups before and after treatment .Results :Compared with before treatment ,there were significant improvements in cardiac function and blood lipid levels , and significant reductions in serum levels of TNF-α and TRAIL in two groups after treatment , P=0-001 all ;com-pared with atorvastatin group after treatment ,there were significant rise in cardiac output [ (4-1 ± 0-8) L/min vs. (4-9 ± 0-6) L/min] ,cardiac index [ (3-9 ± 0-6) L·min-1 ·m-2 vs.(4-2 ± 0-7) L·min-1 ·m-2 ] ,LVEF [ (52-4 ± 1-6)% vs.(59-6 ± 1-5)%] ,serum HDL-C [ (1-5 ± 0-4) mmol/L vs.(1-9 ± 0-5) mmol/L] and QOL [ (6-2 ± 0-8) scores vs .(7-1 ± 1-1) scores] ,and significant reductions in LVEDd [ (5-4 ± 0-6) cm vs.(5-0 ± 0-7) cm] ,serum levels of TC [ (4-1 ± 0-7) mmol/L vs.(3-7 ± 0-9) mmol/L] ,TG [ (1-4 ± 0-6) mmol/L vs.(1-1 ± 0-5) mmol/L] , LDL-C [ (2-9 ± 0-8) mmol/L vs .(2-4 ± 0-8) mmol/L] ,TNF-α [ (52-1 ± 12-6) ng/L vs.(41-3 ± 14-2) ng/L] and TRAIL [ (44-7 ± 24-1) pg/ml vs.(34-1 ± 26-6) pg/ml] in combined treatment group , P<0-05 or < 0-01- Conclusion : Compound Danshen dripping pills combined atorvastatin can significantly improve heart function ,re-duce blood lipid levels and improve quality of life in CHD patients with hyperlipidemia .

2.
Gut and Liver ; : 173-182, 2018.
Article in English | WPRIM | ID: wpr-713233

ABSTRACT

BACKGROUND/AIMS: Methylation status plays a causal role in carcinogenesis in targeted tissues. However, the relationship between the DNA methylation status of multiple genes in blood leukocytes and colorectal cancer (CRC) susceptibility as well as interactions between dietary factors and CRC risks are unclear. METHODS: We performed a case-control study with 466 CRC patients and 507 cancer-free controls to investigate the association among the methylation status of individual genes, multiple CpG site methylation (MCSM), multiple CpG site heterogeneous methylation and CRC susceptibility. Peripheral blood DNA methylation levels were detected by performing methylation-sensitive high-resolution melting. RESULTS: Total heterogeneous methylation of CA10 and WT1 conferred a significantly higher risk of CRC (adjusted odds ratio [OR(adjusted)], 5.445; 95% confidence interval [CI], 3.075 to 9.643; OR(adjusted), 1.831; 95% CI, 1.100 to 3.047; respectively). Subjects with high-level MCSM (MCSM-H) status demonstrated a higher risk of CRC (OR(adjusted), 4.318; 95% CI, 1.529 to 12.197). Additionally, interactions between the high-level intake of fruit and CRH, WT1, and MCSM on CRC were statistically significant. CONCLUSIONS: The gene methylation status of blood leukocytes may be associated with CRC risk. MCSM-H of blood leukocytes was associated with CRC, especially in younger people. Some dietary factors may affect hypermethylation status and influence susceptibility to CRC.


Subject(s)
Humans , Carcinogenesis , Case-Control Studies , China , Colorectal Neoplasms , DNA Methylation , Freezing , Fruit , Leukocytes , Methylation , Odds Ratio
3.
Journal of Gastric Cancer ; : 295-305, 2017.
Article in English | WPRIM | ID: wpr-179812

ABSTRACT

PURPOSE: We previously found that the histone methyltransferase suppressor of variegation, enhancer of zeste, trithorax and myeloid-nervy-deformed epidermal autoregulatory factor-1 domain-containing protein 3 (SMYD3) is a potential independent predictive factor or prognostic factor for overall survival in gastric cancer patients, but its roles seem to differ from those in other cancers. Therefore, in this study, the detailed functions of SMYD3 in cell proliferation and migration in gastric cancer were examined. MATERIALS AND METHODS: SMYD3 was overexpressed or suppressed by transfection with an expression plasmid or siRNA, and a wound healing migration assay and Transwell assay were performed to detect the migration and invasion ability of gastric cancer cells. Additionally, an MTT assay and clonogenic assay were performed to evaluate cell proliferation, and a cell cycle analysis was performed by propidium iodide staining. Furthermore, the expression of genes implicated in the ataxia telangiectasia mutated (ATM) pathway and proteins involved in cell cycle regulation were detected by polymerase chain reaction and western blot analyses. RESULTS: Compared with control cells, gastric cancer cells transfected with si-SMYD3 showed lower migration and invasion abilities (P<0.05), and the absence of SMYD3 halted cells in G2/M phase and activated the ATM pathway. Furthermore, the opposite patterns were observed when SMYD3 was elevated in normal gastric cells. CONCLUSIONS: To the best of our knowledge, this study provides the first evidence that the absence of SMYD3 could inhibit the migration, invasion, and proliferation of gastric cancer cells and halt cells in G2/M phase via the ATM-CHK2/p53-Cdc25C pathway. These findings indicated that SMYD3 plays crucial roles in the proliferation, migration, and invasion of gastric cancer cells and may be a useful therapeutic target in human gastric carcinomas.


Subject(s)
Humans , Ataxia Telangiectasia , Blotting, Western , Cell Cycle , Cell Proliferation , G2 Phase Cell Cycle Checkpoints , Histones , Plasmids , Polymerase Chain Reaction , Propidium , RNA, Small Interfering , Stomach Neoplasms , Transfection , Wound Healing
4.
Chinese Journal of Contemporary Pediatrics ; (12): 67-71, 2016.
Article in Chinese | WPRIM | ID: wpr-279895

ABSTRACT

This study reports a boy with psychomotor retardation and epilepsy due to maternal phenylketonuria (PKU). The boy was admitted at the age of 20 months because of psychomotor retardation and epilepsy. He had seizures from the age of 1 year. His development quotient was 43. He presented with microcephaly, normal skin and hair color. Brain MRI scan showed mild cerebral white matter demyelination, broadening bilateral lateral ventricle and foramen magnum stricture. Chromosome karyotype, urine organic acids, blood amino acids and acylcarnitines were normal. His mother had mental retardation from her childhood. She presented with learning difficulties and yellow hair. Her premarriage health examinations were normal. She married a healthy man at age of 26 years. When she visited us at 28 years old, PKU was found by markedly elevated blood phenylalanine (916.54 μmol/L vs normal range 20-120 μmol/L). On her phenylalanine hydroxylase (PAH) gene, a homozygous mutations c.611A>G (p.Y204C) was identified, which confirmed the diagnosis of PAH-deficient PKU. Her child carries a heterozygous mutation c.611A>G with normal blood phenylalanine. Her husband had no any mutation on PAH. It is concluded that family investigation is very important for the etiological diagnosis of the children with mental retardation and epilepsy. Carefully clinical and metabolic survey should be performed for the parents with mental problems to identify parental diseases-associated child brain damage, such as maternal PKU.


Subject(s)
Adult , Female , Humans , Infant , Male , Pregnancy , Epilepsy , Intellectual Disability , Phenylalanine Hydroxylase , Genetics , Phenylketonuria, Maternal
5.
Chinese Journal of Contemporary Pediatrics ; (12): 172-175, 2015.
Article in Chinese | WPRIM | ID: wpr-346189

ABSTRACT

cblB defect is a rare type of methylmalonic aciduria. In this study, a Chinese boy was diagnosed with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene. The clinical presentations, blood acylcarnitines profiles, urine organic acids and genetic features of the patient were reported. The boy presented with fever, feeding difficulty and lethargy at the age of 2 months. Seven days later, he had coma, cold limb, thrombocytopenia, metabolic acidosis and liver damage. His blood propionylcarnitine and urinary methylmalonic acid levels increased significantly, but the plasma total homocysteine level was in the normal range, which supported the diagnosis of isolated methylmalonic aciduria. Gene analysis was performed by direct sequencing. No mutation in the MUT gene was found. However, a reported mutation c.577G>A (p.E193K) and a novel mutation c.562G>A (p.V188M) in the MMAB gene were identified, which confirmed the diagnosis of methylmalonic aciduria cblB type. Progressive clinical and biochemical improvement has been observed after hydroxylcobalamin injection, protein-restricted diet with the supplements of special formula and L-carnitine. He is currently 3 years and 11 months old and has a normal development condition. The phenotypes of the patients with cblB defect are nonspecific. Metabolic analysis and MMAB gene analysis are keys for the diagnosis of the disorder.


Subject(s)
Humans , Infant , Male , Alkyl and Aryl Transferases , Genetics , Amino Acid Metabolism, Inborn Errors , Genetics , Mutation
6.
Chinese Journal of Contemporary Pediatrics ; (12): 1103-1106, 2015.
Article in Chinese | WPRIM | ID: wpr-279959

ABSTRACT

Methylmalonyl CoA mutase deficiency due to MUT gene defect has been known as the main cause of isolated methylmalonic acidemia in Mainland China. This study reported a patient with isolated methylmalonic aciduria (MUT type) characterized as acute brainstem encephalitis and myelitis. The previously healthy girl presented with fever, lethargy and progressive weakness in her extremities at the age of 3 years and 2 months. Three day later, she had respiratory distress and consciousness. Cranial MRI revealed bilateral symmetrical lesion of pallidum, brain stem and spinal cord, indicating acute brainstem encephalitis and myelitis. Her blood propionylcarnitine (6.83 μmol/L vs normal range 1.0 to 5.0 μmol/L) and urinary methylmalonic acid (133.22 mmol/mol creatinine vs normal range 0.2 to 3.6 mmol/mol creatinine) increased significantly. Plasma total homocysteine was normal. On her MUT gene, a reported mutation (c.1630_1631GG>TA) and a novel mutation (c.1663C>T, p.A555T) were identified, which confirmed the diagnosis of methylmalonic aciduria (MUT type). After cobalamin injection, protein-restricted diet with the supplements of special formula and L-carnitine, progressive improvement has been observed. The clinical manifestation of patients with methylmalonic aciduria is complex. Metabolic study and gene analysis are keys for the diagnosis and treatment of the disorder.


Subject(s)
Child, Preschool , Female , Humans , Acute Disease , Amino Acid Metabolism, Inborn Errors , Brain Stem , Pathology , Encephalitis , Methylmalonyl-CoA Mutase , Genetics , Mutation , Myelitis
7.
Chinese Journal of Contemporary Pediatrics ; (12): 965-970, 2015.
Article in Chinese | WPRIM | ID: wpr-279015

ABSTRACT

<p><b>OBJECTIVE</b>To study the clinical features and treatment outcomes of cardiovascular system involvement in children with methylmalonic aciduria combined with hyperhomocysteinemia (MMACHC).</p><p><b>METHODS</b>The clinical data of 10 children with methylmalonic aciduria combined with hyperhomocysteinemia and who had cardiovascular system involvement were retrospectively analyzed and the treatment outcomes were followed up.</p><p><b>RESULTS</b>In the 10 patients, there were 4 cases with initial presentations of cardiovascular system symptoms such as shortness of breath and dyspnea, 3 cases with urinary tract symptoms such as edema, hematuria and proteinuria, and 3 cases with nervous system symptoms such as developmental retardation and convulsions. The 10 patients had different types and severity of cardiovascular injuries. After 3 months to 8 years of follow-up, the congenital heart defects resolved naturally in 2 cases, and the patient with arrhythmia had no obvious changes. In 5 cases of hypertension, blood pressures recovered to normal in 3 cases, and 1 case was lost to follow-up. In 5 patients with pulmonary hypertension, 2 died, 2 recovered, and 1 case had mildly elevated pulmonary artery pressure. Seven patients underwent MMACHC gene testing, and 5 showed c.80A>G mutations.</p><p><b>CONCLUSIONS</b>Metabolic disease should be taken into account for the children with unexplained pulmonary hypertension and hypertension with the onset of the shortness of breath and dyspnea. The severity of cardiovascular system involvement might be one of the most important factors affecting the prognosis of children with MMACHC. Cardiavascular system involvement of the patients may be related to MMACHC c.80A>G mutations.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Amino Acid Metabolism, Inborn Errors , Genetics , Cardiovascular Diseases , Follow-Up Studies , Hyperhomocysteinemia , Genetics , Retrospective Studies
8.
Chinese Journal of Contemporary Pediatrics ; (12): 62-66, 2014.
Article in Chinese | WPRIM | ID: wpr-345610

ABSTRACT

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. It is known that MTHFR deficiency may result in hyperhomocysteinemia, but MTHFR deficiency-induced schizophrenia has been rarely reported. Here we present the clinical course, biochemical and genetic characteristics of schizophrenia resulted from MTHFR deficiency in a school-age boy. He was 13 years old. He was admitted with a two-year history of fear, auditory hallucination, learning difficulty, sleeping problems, irascibility, drowsing and giggling. At admission, he had significantly elevated plasma and urine levels of total homocysteine, significantly decreased levels of folate in serum and cerebrospinal fluid, and a normal blood concentration of methionine. Further DNA sequencing analysis showed 665C>T homozygous mutations in the MTHFR gene. The patient was diagnosed with MTHFR deficiency-associated schizophrenia and treatment with calcium folinate, vitamin B12, vitamin B6, and betaine was initiated. After the treatment for 1 week, his plasma and urine levels of homocysteine were decreased to a normal range and the clinical symptoms were significantly improved. After 3 months of treatment, the patient returned to school. He is now living with normal school life. In summary, children with late-onset MTHFR deficiency and secondary cerebral folate deficiency may lead to schizophrenia. This rare condition can be early diagnosed through analyses of blood and urine total homocysteine, amino acids in blood and folate in blood and cerebral fluid and successfully treated with folinic acid, vitamin B6, vitamin B12 and betaine.


Subject(s)
Adolescent , Humans , Male , Base Sequence , Homocystinuria , Diagnosis , Drug Therapy , Methylenetetrahydrofolate Reductase (NADPH2) , Molecular Sequence Data , Muscle Spasticity , Diagnosis , Drug Therapy , Psychotic Disorders , Diagnosis , Drug Therapy , Schizophrenia
9.
Chinese Journal of Contemporary Pediatrics ; (12): 624-628, 2014.
Article in Chinese | WPRIM | ID: wpr-254235

ABSTRACT

Menkes disease is a rare X-linked recessive disorder characterized by multi-systemic disorder of copper deficiency caused by ATP7A gene mutation. In this study, the clinical and laboratory features of three patients with Menkes disease were analyzed. Prenatal diagnosis had been performed for a fetus of a family. Three patients were admitted at the age of 8-9 months due to severe epilepsies and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were observed. On their cranial MR imaging, cortical atrophy, leukoencephalopathy, basal ganglia damage and tormesity of the intracranial vessels were found. Their plasma ceruloplasmin decreased to 70.2, 73.5 and 81 mg/L, significantly lower than normal range (210-530 mg/L). c.3914A>G (p. D1305G) was detected on ATP7A gene of case 1 and 2. A novel mutation, c.3265G>T (p.G1089X) was found in case 3. Both of them were firstly found in Chinese patients of Menkes disease. The mother of case 1 was tested at 20 weeks of pregnancy. Karyotype and ATP7A gene studies of the amniocytes were performed for the prenatal diagnosis of her fetus. Normal male karyotypes without c.3914A>G mutation on ATP7A gene was showed. Postnatal genetic analysis and normal development confirmed the prenatal diagnosis.


Subject(s)
Humans , Infant , Male , Adenosine Triphosphatases , Genetics , Cation Transport Proteins , Genetics , Copper-Transporting ATPases , Menkes Kinky Hair Syndrome , Diagnosis , Genetics , Mutation , Prenatal Diagnosis
10.
Chinese Journal of Pediatrics ; (12): 909-914, 2013.
Article in Chinese | WPRIM | ID: wpr-288814

ABSTRACT

<p><b>OBJECTIVE</b>Mitochondrial disease is a group of energy metabolic disorders, characterized by involvement of multisystem with high energy requirements. Encephalomyopathies are common clinical findings of the mitochondrial diseases. However, mitochondrial cardiac damage is not rare. In this study, the clinical, biological, and genetic analyses were performed in three patients with mitochondrial cardiac damage, in order to understand the characteristics of mitochondrial diseases.</p><p><b>METHOD</b>Three girls presented with arrhythmia and cardiac enlargement from the age of 3, 4 and 8 years respectively. They were admitted into the Peking University First Hospital. Infection, autoimmune diseases, aminoacidopathies, organic acidurias, mitochondrial-fatty acid oxidation defects, and lysosomal storage disease were excluded by routine laboratory examinations and metabolic analysis for blood amino acids, acylcarnitines, urinary organic acids, and lysosome activity assay. Peripheral leukocytes mitochondrial respiratory chain enzyme I to V activities were measured by spectrophotometry. The entire sequence of the mitochondrial DNA was analyzed.</p><p><b>RESULT</b>In two patients (case 1 and case 3), hypertrophic cardiomyopathy and grade I to grade II of cardiac function were found. One patient (case 2) was diagnosed with arrhythmia and grade I of cardiac function. Increased creatine phosphokinase and creatine kinase isoenzyme MB were observed. Mitochondrial respiratory chain complex deficiencies were indentified in the three patients. Patient 1 had combined deficiencies of complex III and V. The activity of complex I+III was 18.7 nmol/(min·mg mitochondrial protein) (control 84.4 ± 28.5). The activity of complex V was 20.4 nmol/(min·mg mitochondrial protein) (control 103.7 ± 29.2). In her mitochondrial gene, A14693G on tRNA(Glu) and T16519C on D-loop were found. Patient 2 had an isolated complex I deficiency. The activity was 22.0 nmol/(min·mg mitochondrial protein) (control 44.0 ± 5.4). A16183C, T16189C and G15043A mutations on D-loop were found. Patient 3 had a combined deficiency of complex IV and V. The activity of complex IV was 21.0 nmol/(min·mg mitochondrial protein) (control 54.1 ± 12.3). The activity of complex V was 23.2 nmol/(min·mg mitochondrial protein) (control 103.7 ± 29.2). C253T and C16187T mutations on D-loop were detected. Haplotype analysis showed that three patients belong to H2a2a. Improvement was observed after the treatment with L-carnitine, coenzyme Q10, vitamin C and E. At present, the patients are 7, 5 and 8 years old. Although excise intolerance still persists, they had a good general condition with normal school life.</p><p><b>CONCLUSION</b>The mitochondrial diseases with cardiac damage show cardiomyopathy, arrhythmia and exercise intolerance. Many kinds of mitochondrial respiratory chain deficiency were observed. A14693G in mitochondrial tRNA(Glu) gene is probably one of the causes in China.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Male , Arrhythmias, Cardiac , Diagnosis , Genetics , Metabolism , Biomarkers , Blood , Urine , Cardiomyopathy, Hypertrophic , Diagnosis , Genetics , Metabolism , DNA Mutational Analysis , DNA, Mitochondrial , Genetics , Electron Transport Chain Complex Proteins , Genetics , Metabolism , Mitochondria, Heart , Pathology , Mitochondrial Diseases , Diagnosis , Genetics , Metabolism , Mutation
11.
Chinese Journal of Contemporary Pediatrics ; (12): 561-566, 2012.
Article in Chinese | WPRIM | ID: wpr-353918

ABSTRACT

This study reviews a case of mitochondrial respiratory chain complex I deficiency due to the 10191T>C mutation in mitochondrial ND3 gene. The previously healthy boy progressively presented with blepharoptosis, weakness, epilepsy and motor regression at age 6 years. Elevated blood lactate and pyruvate were observed. Brain magnetic resonance imaging showed symmetrical lesions in the basal ganglia. Leigh syndrome was thus confirmed. The protein from the mitochondria and genomic DNA of the boy and his parents was collected from peripheral blood leucocytes for the activity test for mitochondrial complex I to V and genetic analysis. The results showed the activity of complex I (33.1 nmol /min in 1 milligram mitochondrial protein) was lower than normal reference value (44.0±5.4 nmol /min in 1 milligram mitochondrial protein). The ratio of complex I to citrate synthase (19.8%) was also lower than normal reference value (48%±11%). The activities of complexes II to V were normal. 10191T>C mutation in ND3 gene of mitochondria was identified in the boy. 10191T>C mutation and complex I deficiency were not detected in his parents. At present, he is 16 years old, and of normal intelligence with spastic paralysis in both lower extremities after treatment. It is concluded that a Chinese boy with isolated complex I deficiency due to 10191T>C mutation in ND3 gene was firstly diagnosed by peripheral leukocytes mitochondrial respiratory chain enzyme assay and gene analysis. This study can provide clinical data for the nosogenesis of Leigh syndrome.


Subject(s)
Adolescent , Humans , Male , Brain , Pathology , Electron Transport Complex I , Genetics , Leigh Disease , Genetics , Magnetic Resonance Imaging , Mitochondrial Diseases , Genetics , Mutation
12.
Chinese Journal of Pediatrics ; (12): 410-414, 2012.
Article in Chinese | WPRIM | ID: wpr-355954

ABSTRACT

<p><b>OBJECTIVE</b>Methylmalonic aciduria is the most common disorder of organic acidurias in the mainland of China. It is also the one of treatable metabolic disorders. The clinical spectrum of the patients varies from severe neonatal-onset forms with neonatal brain injury and high mortality to milder forms with adult-onset. The clinical manifestations of neonates with methylmalonic aciduria are non-specific. Early diagnosis and adequate treatment contribute a lot to improving the prognosis of the patients. In this study, the abnormal clinical and laboratory findings in neonatal period of 160 Chinese patients with early-onset methylmalonic aciduria were investigated.</p><p><b>METHOD</b>From 1996 to 2011, a total of 398 patients with methylmalonic aciduria were diagnosed in our hospital; 286 (71.9%) patients had early-onset before 1 year of age. Among 286 patients, 160 (55.9%) presented symptoms in neonatal period. Their urine organic acids were analyzed by gas chromatography-mass spectrometry. Blood amino acids and acylcarnitine profiles were determined by liquid chromatography tandem mass spectrometry. Serum and urine total homocysteine were measured using a fluorescence polarization immunoassay. In some patients, gene analysis was performed. Based on the disease types and general condition, individual dietary and medical interventions were started soon after diagnosis.</p><p><b>RESULT</b>Out of the 160 patients, 131 (81.9%) had combined methylmalonic aciduria and homocysteinemia. Isolated methylmalonic aciduria was found in 29 cases (18.1%). The common presentations in neonatal period were feeding difficulty, seizures, lethargy and dyspnea. Megaloblastic anemia, liver dysfunction, hyperammonemia and metabolic acidosis were the frequent findings in the routine laboratory test. The most common initial clinical diagnosis was suspected hypoxic-ischemic encephalopathy. Even in 36 cases with abnormal family history, only 3 patients were admitted with suspected inborn errors of metabolism. Five cases (3.1%) were diagnosed by postmortem metabolic examination; 7 cases (4.4%) were detected by newborn screening. In 148 cases (92.5%), the diagnosis was much delayed to the age of one month to 8 years and 5 months (mean 13 months). Methylmalonic aciduria combined with homocysteinemia (MMACHC) gene analyses were performed in 31 cases with combined methylmalonic aciduria. CblC defect was confirmed. The patients with isolated methylmalonic aciduria were treated with protein-restricted diet, cobalamin and L-carnitine. The patients of methylmalonic aciduria combined with homocysteinemia were treated with cobalamin, L-carnitine, calcium folinate, betaine and common diet. Seven patients died without treatment. Clinical improvement was observed in 153 patients. Only 2 patients detected by newborn screening had normal mental and physical development. Mild to severe psychomotor retardation was observed in 151 cases.</p><p><b>CONCLUSION</b>High mortality and disability rates were observed in the patients with early-onset methylmalonic aciduria. Combined methylmalonic aciduria and homocysteinemia is the common type of methylmalonic aciduria. The clinical manifestation in neonatal period of the patients with early-onset methylmalonic aciduria is complex. Feeding difficulty, seizures, lethargy and dyspnea are the common symptoms in neonatal period of the patients. Megaloblastic anemia, liver dysfunction, hyperammonemia and metabolic acidosis were the frequent laboratory findings.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Amino Acid Metabolism, Inborn Errors , Diagnosis , Genetics , Therapeutics , Carnitine , Therapeutic Uses , China , Epidemiology , Folic Acid , Therapeutic Uses , Gas Chromatography-Mass Spectrometry , Homocysteine , Blood , Urine , Hyperhomocysteinemia , Diagnosis , Therapeutics , Methylmalonic Acid , Urine , Neonatal Screening , Retrospective Studies , Vitamin B 12 , Therapeutic Uses
13.
Chinese Journal of Contemporary Pediatrics ; (12): 241-246, 2012.
Article in Chinese | WPRIM | ID: wpr-320674

ABSTRACT

Mitochondrial respiratory chain deficiency is a common cause of mitochondrial disease in children. This study aimed to review the clinical, enzymatic and genetic characteristics of a Chinese boy with progressive intrahepatic cholestasis due to mitochondrial respiratory chain complex I deficiency. The boy developed diarrhea from the age of 13 months, followed by progressive body weight loss, jaundice and weakness. His urine organic acids, blood amino acids and acylcarnitines profiles were normal. Mitochondrial respiratory chain complexes I to V activities in peripheral leukocytes were measured using spectrophotometric assay. Complex I activity was reduced. 5821G>A mutation was indentified by gene sequencing on tRNA-cys of mitochondrial gene in the patient and his mother. Vitamin supplements, liver protection, antibiotics and plasma infusion were not effective in the patient. Unfortunately, the boy died at the age of 17 months. Mitochondrial respiratory chain complex I deficiency is the most common mitochondrial respiratory chain disorder. This was the first case of intrahepatic cholestasis due to complex I deficiency confirmed by mitochondrial respiratory chain enzyme activity assay and gene analysis in China. It was concluded that mitochondrial hepatopathy is one of major causes of metabolic hepatopathy. Biochemical assay, mitochondrial respiratory chain complex activities assay and genetic analysis are crucial for the etiological diagnosis of metabolic hepatopathy.


Subject(s)
Humans , Infant , Male , Cholestasis, Intrahepatic , Diagnosis , Diagnosis, Differential , Electron Transport Complex I , Mitochondrial Diseases
14.
Chinese Journal of Contemporary Pediatrics ; (12): 569-572, 2011.
Article in Chinese | WPRIM | ID: wpr-339592

ABSTRACT

Mitochondrial respiratory chain complex II deficiency is a rare documented cause of mitochondrial diseases. This study reported a case of Leigh syndrome due to isolated complex II deficiency. A boy presented with progressive weakness, motor regression and dysphagia after fever from the age of 8 months and hospitalized at the age of 10 months. Elevated blood levels of lactate and pyruvate were observed. Brain magnetic resonance image showed symmetrical lesions in the basal ganglia. Mitochondrial respiratory chain complex I-V activities in peripheral leukocytes were measured using spectrophotometric assay. Mitochondrial gene screening of common point mutations was performed. The complex II activity in the peripheral leukocytes decreased to 21.9 nmol/min per mg mitochondrial protein (control: 47.3±5.3 nmol/min per mg mitochondrial protein). The ratio of complex II activity to citrate synthase activity (22.1%) also decreased (control: 50.9%±10.7 %). No point mutation was found in mitochondrial DNA. The boy was diagnosed as Leigh syndrome due to isolated complex II deficiency. Psychomotor improvements were observed after the treatment. The patient is 22 months old and in a stable condition.


Subject(s)
Humans , Infant , Male , Diagnosis, Differential , Electron Transport Complex II , Leigh Disease , Diagnosis , Therapeutics , Mitochondrial Diseases
15.
Chinese Journal of Pediatrics ; (12): 848-852, 2011.
Article in Chinese | WPRIM | ID: wpr-356361

ABSTRACT

<p><b>OBJECTIVE</b>To study the clinical and enzymological characteristics of the children with mitochondrial respiratory chain complex III deficiency.</p><p><b>METHOD</b>The clinical manifestations of five patients (3 males, 2 females) were summarized. Spectrophotometric assay was used for the analysis of respiratory chain complex I to V enzyme activity in peripheral blood leukocytes, after obtaining venous blood.</p><p><b>RESULT</b>(1) Five patients were hospitalized at the age of 1 month to 15 years. Three patients had Leigh syndrome with progressive motor developmental delay or regression and weakness. One had severe liver damage and intrahepatic cholestasis. One presented muscle weakness. (2) Deficient complex I + III activity was identified in five patients. Their complex I + III activities in peripheral blood leukocytes were 3.0 to 14.2 nmol/min per mg mitochondrial protein (control: 84.4 ± 28.5 nmol/min per mg mitochondrial protein). The ratio of complex I + III to citrate synthase decreased to 3.5 to 22.9% (normal control 66.1 ± 14.7%). The activities of complex III decreased to 10.4 to 49.3% of the lowest control value, while complex I, II, IV and V activities were normal. The results supported the diagnosis of isolated respiratory chain complex III deficiency.</p><p><b>CONCLUSION</b>Complex III deficiency is a kind of disorder of energy metabolism with various manifestations. The complex I + III activities and the ratio of complex I + III to citrate synthase were lower than those of the control. The activities of complex I, II, IV and V were normal.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Electron Transport Complex I , Metabolism , Electron Transport Complex II , Metabolism , Electron Transport Complex III , Metabolism , Leigh Disease , Leukocytes, Mononuclear , Mitochondrial Diseases , Diagnosis , Metabolism
16.
Chinese Journal of Contemporary Pediatrics ; (12): 392-395, 2011.
Article in Chinese | WPRIM | ID: wpr-308781

ABSTRACT

3-Hydroxy-3-methylglutaric aciduria is a rare disorder of organic acid metabolism caused by 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. The disorder was common in neonatal or infant period. Here a case of late onset 3-hydroxy-3-methylglutaric aciduria complicated by leucodystrophy was reported. The patient was a 7-year-old boy. He presented with progressive headache, drowsiness and vomiting. Hepatic lesions, ketosis and leucopenia were found. Symmetrical diffused leucodystrophy was shown by MRI. Blood levels of isovalerylcarnitine and acetylcarnitine increased significantly. Urinary levels of 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-hydroxyglutaric acids and 3-methyl-crotonylglycine increased significantly. Symptoms were released by intravenous infusion of L-carnitine and glucose. After treatment for 6 months, urinary levels of 3-hydroxy-3-methylglutaric aciduria decreased in the boy and his health improved.


Subject(s)
Child , Humans , Male , Acetyl-CoA C-Acetyltransferase , Amino Acid Metabolism, Inborn Errors , Hereditary Central Nervous System Demyelinating Diseases , Diagnosis
17.
Chinese Medical Journal ; (24): 3049-3054, 2010.
Article in English | WPRIM | ID: wpr-285732

ABSTRACT

<p><b>BACKGROUND</b>For partial-thickness tears of the rotator cuff, double-row fixation and transtendon single-row fixation restore insertion site anatomy, with excellent results. We compared the biomechanical properties of double-row and transtendon single-row suture anchor techniques for repair of grade III partial articular-sided rotator cuff tears.</p><p><b>METHODS</b>In 10 matched pairs of fresh-frozen sheep shoulders, the infraspinatus tendon from 1 shoulder was repaired with a double-row suture anchor technique. This comprised placement of 2 medial anchors with horizontal mattress sutures at an angle of ≤ 45° into the medial margin of the infraspinatus footprint, just lateral to the articular surface, and 2 lateral anchors with horizontal mattress sutures. Standardized, 50% partial, articular-sided infraspinatus lesions were created in the contralateral shoulder. The infraspinatus tendon from the contralateral shoulder was repaired using two anchors with transtendon single-row mattress sutures. Each specimen underwent cyclic loading from 10 to 100 N for 50 cycles, followed by tensile testing to failure. Gap formation and strain over the footprint area were measured using a motion capture system; stiffness and failure load were determined from testing data.</p><p><b>RESULTS</b>Gap formation for the transtendon single-row repair was significantly smaller (P < 0.05) when compared with the double-row repair for the first cycle ((1.74 ± 0.38) mm vs. (2.86 ± 0.46) mm, respectively) and the last cycle ((3.77 ± 0.45) mm vs. (5.89 ± 0.61) mm, respectively). The strain over the footprint area for the transtendon single-row repair was significantly smaller (P < 0.05) when compared with the double-row repair. Also, it had a higher mean ultimate tensile load and stiffness.</p><p><b>CONCLUSIONS</b>For grade III partial articular-sided rotator cuff tears, transtendon single-row fixation exhibited superior biomechanical properties when compared with double-row fixation.</p>


Subject(s)
Animals , Orthopedic Procedures , Methods , Rotator Cuff , General Surgery , Sheep , Suture Anchors
18.
Microbiology ; (12)1992.
Article in Chinese | WPRIM | ID: wpr-685302

ABSTRACT

A strain,Actinobacillus succinogenes CGMCC 1593,producing succinic acid was isolated from bovin rumen,which could pro- duces succinic acid by anaerobic fermentation.A series of morphological and biochemical characteristics and sequence analysis of 16S rDNA reveal that it belongs to Actinobacillus succinogenes.When cultured anaerobically in medium containing 60 g/L glucose as carbon source,the strain produces 25.8 g/L of succnic acid.

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