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1.
China Journal of Chinese Materia Medica ; (24): 1857-1863, 2022.
Article in Chinese | WPRIM | ID: wpr-928181

ABSTRACT

This study aims to establish a method for determination of paeonol(Pae), eugenol(Eug), and piperine(Pip) content in receptor liquid and research on the permeability and pharmacokinetics of Huoxue Zhitong gel patch and microemulsion gel. The Franz diffusion experiment was conducted to assess the percutaneous permeability, and the microdialysis method was employed to assess pharmacokinetics of Huoxue Zhitong gel patch and microemulsion gel. The content of Pae, Eug, and Pip in receptor liquid in vitro and in vivo was determined by HPLC and UPLC-MS. The Q_n and J_(ss) of Pae, Eug, and Pip in the gel patch were significantly higher than those in the microemulsion gel, indicating that the drug release was faster in the gel patch. The C_(max), AUC_(0-760), and MRT of Pae, Eug, and Pip in the gel patch were higher than those in the microemulsion gel, indicating that the gel patch can promote the penetration and prolong the skin residence of the drug. The results of this study provide reference for improving the dosage form of Huoxue Zhitong patch.


Subject(s)
Administration, Cutaneous , Chromatography, Liquid , Emulsions , Permeability , Skin/metabolism , Skin Absorption , Tandem Mass Spectrometry
2.
Journal of Southern Medical University ; (12): 130-136, 2022.
Article in Chinese | WPRIM | ID: wpr-936294

ABSTRACT

OBJECTIVE@#To explore the risk factors for recurrence in first-episode ischemic stroke survivors and establish a model for predicting stroke recurrence using a nomogram.@*METHODS@#We collected the data from a total of 821 first-episode ischemic stroke survivors admitted in the Department of Neurology, West China Hospital, Sichuan University from January, 2010 to December, 2018. R software was used for random sampling of the patients, and 70% of the patients were included in the training set to establish the prediction model and 30% were included in the validation set. Cox proportional risk regression model was used to analyze the factors affecting stroke recurrence, and R software rms package was used to construct the histogram and establish the visual prediction model. C-index and calibration curve were used to evaluate the performance of the model for predicting stroke occurrence.@*RESULTS@#Among the 821 survivors, the recurrence rate was 16.81% at 3 years and 19.98% at 5 years. Multivariate analysis of the training set by Cox regression model showed that an age over 65 years (HR= 2.596, P=0.024), an age of 45-64 years (HR=2.510, P=0.006), a mRS score beyond 3 (HR=2.284, P=0.004) and a history of coronary heart disease (HR=1.353, P=0.034) were all risk factors for stroke recurrence. The C-indexes of the nomogram for the 3-and 5-year relapse prediction model were 0.640 and 0.671, respectively.@*CONCLUSION@#Age, mRS score and peripheral vascular disease are the factors affecting stroke recurrence in first-episode ischemic stroke survivors, and the nomogram has a high discrimination and predictive power for predicting ischemic stroke recurrence.


Subject(s)
Aged , Humans , Middle Aged , Ischemic Stroke , Nomograms , Prognosis , Proportional Hazards Models , Retrospective Studies , Risk Factors , Stroke
3.
China Journal of Chinese Materia Medica ; (24): 801-809, 2021.
Article in Chinese | WPRIM | ID: wpr-878943

ABSTRACT

By preparing 15 batches of substance benchmarks of Taohong Siwu Decoction, the methodology of the characteristic spectrums of substance benchmarks was established. The paste-forming rate range, the contents and the transfer rate range of the index components, hydroxy safflower yellow A, ferulic acid and paeoniflorin, the characteristic peaks and the similarity range of the characteristic spectrums of Taohong Siwu Decoction were determined to define key quality attributes of substance benchmarks of Taohong Siwu Decoction.In the 15 batches of substance benchmarks of Taohong Siwu Decoction, the similarity of characteristic spectrums was higher than 0.9. Furthermore, based on summarization of the characteristic peak information, there were 13 characteristic peaks in the whole decoction. Baishao had three characteristic peaks, Honghua had seven characteristic peaks, and Chuanxiong and Danggui had three characteristic peaks. The paste-forming rate of the 15 batches of substance benchmarks was controlled at 33.11%-40.62%. The content of hydroxy safflower yellow A was 0.129%-0.203%, with the average transfer rate of 16.596%±0.669%.The content of ferulic acid was 0.043%-0.055%, with the average transfer rate of 20.489%±1.772%.The content of paeoniflorin was 0.676%-0.943%, with the average transfer rate of 29.112%±3.273%.The quality value transfer of substance benchmarks of classical prescription Taohong Siwu Decoction was analyzed by the combination of characteristic spectrums, paste-forming rate and the content of index components. The established substance benchmark quality evaluation method was stable and feasible, and could provide a basis for quality control and subsequent development of relevant preparations of Taohong Siwu Decoction.


Subject(s)
Benchmarking , Drugs, Chinese Herbal , Quality Control
4.
China Journal of Chinese Materia Medica ; (24): 792-800, 2021.
Article in Chinese | WPRIM | ID: wpr-878942

ABSTRACT

By preparing 10 batches of substance benchmarks freeze-drying powder( lyophilized powder),the methodology of the characteristic spectrum and the content of index component for substance benchmarks of Qingwei San was established. The characteristic peaks and the similarity range of the characteristic spectrum,the contents and the transfer rate range of isoferulic acid,palmatine and paeonol,and the paste-forming rate range were determined to define key quality attributes of substance benchmarks of Qingwei San. In the10 batches of substance benchmarks of Qingwei San,the similarity of characteristic spectrum was higher than 0. 90. In further comparison of the characteristic peak information,a total of 16 characteristic peaks were identified,including 5 characteristic peaks from Cimicifugae Rhizoma,5 characteristic peaks from Coptidis Rhizoma,2 characteristic peaks from Angelicae Sinensis Radix and 4 characteristic peaks from Moutan Cortex. The content of isoferulic acid was 0. 10%-0. 18%,with the average transfer rate of 49. 82%±4. 02%. The content of palmatine was 0. 17%-0. 31%,with the average transfer rate of 15. 84% ±2. 39%. The content of paeonol was 0. 41%-0. 75%,with the average transfer rate of 23. 41%±3. 23%. The paste-forming rate of the 10 batches of substance benchmarks were controlled at 27%-33%,with the transfer rate between the theoretical paste-forming rate and the actual paste-forming rate was 86. 59%±3. 39%. In this study,the quality value transfer of substance benchmarks of Qingwei San was analyzed by the combination of characteristic spectrum,the content of index component and the paste-forming rate. A scientific and stable evaluation method was preliminarily established,so as to provide the basis for subsequent development and quality control of relevant preparations of Qingwei San.


Subject(s)
Benchmarking , Chromatography, High Pressure Liquid , Drugs, Chinese Herbal , Powders , Quality Control , Rhizome
5.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 10-20, 2021.
Article in Chinese | WPRIM | ID: wpr-906294

ABSTRACT

Taohong Siwutang, originating from Fuke Bingjian by CHAI Dehua in the Qing Dynasty, has been included in the first batch of the 100 classical prescriptions published by the National Administration of Traditional Chinese Medicine(TCM). Taohong Siwutang is composed of six Chinese medicinals, namely the wine-washed Angelicae Sinensis Radix, wine-washed Rehmanniae Recens Radix, wine-washed Carthami Flos, wine-processed Paeoniae Alba Radix, Persicae Semen undergoing peel-off process in hot water, and Chuanxiong Rhizoma, possessing the effects of nourishing blood, promoting blood circulation, and removing blood stasis, and it is mainly applicable to patients with blood deficiency and stasis syndrome. The textual research on the key information of classical prescriptions and the summarization of their ancient and modern applications are conducive to learning about the research status and confirming the subsequent research direction, thus better guiding the preparation of substance benchmarks and the in-depth exploration of preparations. By exploring the sources and historic evolution of Taohong Siwutang and each Chinese medicinal, this paper uncovered the prescription composition, origin of each Chinese medicinal, processing method, and prescription dose. The review of its clinical applications showed that the application scope in modern times has been extended and expanded in contrast to that recorded in ancient books. As revealed by the clinical application literature, it has been mainly employed for treating gynecological diseases such as dysmenorrhea and irregular menstruation, orthopedic diseases like fracture, dermatological diseases such as chloasma, and internal diseases such as coronary heart disease, all of which were differentiated into the blood deficiency and stasis syndrome. It could be seen that Taohong Siwutang had great clinical application value. This review of the ancient and modern literature concerned with Taohong Siwutang and the analysis and determination of its key information are expected to provide a reference for the rational clinical application and further research of Taohong Siwutang.

6.
Chinese Medical Journal ; (24): 2177-2185, 2020.
Article in English | WPRIM | ID: wpr-826419

ABSTRACT

BACKGROUND@#Developing effective spinal cord repair strategies for spinal cord injury (SCI) is of great importance. Emerging evidence suggests that microRNAs (miRNAs) are closely linked to SCI recovery. This study aimed to investigate the function of miR-34c in the neuronal recovery in rats with SCI.@*METHODS@#A rat model with SCI was established. Differentially expressed miRNAs were identified by a microarray analysis. MiR-34c expression in rats was measured by reverse transcription quantitative polymerase chain reaction. Altered expression of miR-34c or C-X-C motif ligand 14 (CXCL14) was introduced in SCI rats to measure their roles in neuronal recovery. Western blot analysis was performed to determine the phosphorylation of Janus kinase 2 (JAK2) and signal transducer and activator of transcription-3 (STAT3). Neuronal apoptosis in rat spinal cord tissues was detected. The concentrations of SCI recovery-related proteins thyrotropin releasing hormone (TRH), prostacyclin (PGI2), and ganglioside (GM) were evaluated by enzyme-linked immunosorbent assay. Data were analyzed using a t-test with a one-way or two-way analysis of variance.@*RESULTS@#Rats with SCI presented decreased grip strength (112.03 ± 10.64 vs. 17.32 ± 1.49 g, P < 0.01), decreased miR-34c expression (7 days: 3.78 ± 0.44 vs. 0.95 ± 0.10, P < 0.05), and increased CXCL14 expression (7 days: 0.61 ± 0.06 vs. 2.91 ± 0.27, P < 0.01). MiR-34c was found to directly bind to CXCL14. Overexpression of miR-34c increased grip strength (11.23 ± 1.08 vs. 31.26 ± 2.99 g, P < 0.01) and reduced neuronal apoptosis in spinal cord tissues (53.61% ± 6.07% vs. 24.59% ± 3.32%, P < 0.01), and silencing of CXCL14 also increased the grip strength (12.76 ± 1.13 vs. 29.77 ± 2.75 g, P < 0.01) and reduced apoptosis in spinal cord tissues (55.74% ± 6.24% vs. 26.75% ± 2.84%, P < 0.01). In addition, miR-34c upregulation or CXCL14 downregulation increased the concentrations of TRH, PGI2, and GM, and reduced phosphorylation of JAK2 and STAT3 in rats with SCI (all P < 0.01).@*CONCLUSION@#The study provided evidence that miR-34c could promote neuronal recovery in rats with SCI through inhibiting CXCL14 expression and inactivating the JAK2/STAT3 pathway. This study may offer new insights into SCI treatment.

7.
Chinese Journal of Immunology ; (12): 165-170, 2019.
Article in Chinese | WPRIM | ID: wpr-744627

ABSTRACT

Objective: To investigate the effect of curcumin on Asrocytes and Notch signaling pathway in spinal cord injury. Methods Spinal cord Asrocytes was isolated and cultured, and cells were treated with 0. 1, 0. 2, 0. 4, 0. 6, 0. 8, 1 mmol/L hydrogen peroxide ( H2O2), the cell viability was measured by CCK8, AS damage model was established.Methods: The experimental grouping was control group, H2O2 group and H2O2+curcumin group, cell apoptosis and ROS content were detected by flow cytometry; the content of IL-6 and TNF-α were detected by ELISA kit; the expression of Cleaved Caspase3, Bax, Notch1 and Hes1 protein were detected by Western blot. Results: The activity of AS was inhibited by different concentrations of H2O2, and the inhibition rate of cell increased with the increase of H2O2 concentration. IC50 for 0. 4 mmol/L's H2O2 was selected to establish a damage model; compared with the normal control group, the apoptosis rate, the content of ROS, IL-6, TNF-α and expression of Cleaved Caspase3, Bax, Notch1 and Hes1 protein expression were increased significantly in H2O2 group, compared with H2O2 group, the apoptosis rate, the content of ROS, IL-6, TNF-α and expression of Cleaved Caspase3, Bax, Notch1 and Hes1 protein expression were lower significantly in H2O2+curcumin group ( P<0. 05). Conclusion: Curcumin can reduce the apoptosis of Asrocytes, the content of ROS and the contents of inflammatory factors IL-6 and TNF-α in spinal cord by down regulating the Notch signaling pathway, thereby protecting spinal cord injury.

8.
Chinese Journal of Practical Pediatrics ; (12): 568-574, 2019.
Article in Chinese | WPRIM | ID: wpr-817897

ABSTRACT

Electrolytes are essential substances that support life,which are important for maintain homeostasis. The extracellular and intracellular essential electrolytes,such as sodium,potassium,calcium and magnesium,are all important components in the process of nucleic acid and protein synthesis,plasma osmotic pressure and neuromuscular excitability. The patients present with irritability,tetany,tachycardia,arrhythmia and even sudden death. Inherited electrolyte imbalances are rare disorders. But the clinical diagnosis is easy by general biochemical examination. All of the diseases are treatable. If the patients were treated in time and correctly,the outcome of most patients should be favourable. Recent advances of genetic studies contribute to more understanding of the inherited electrolyte disturbances. This review describes the clinical characteristics,the diagnostic methods,treatment strategies and the genetic advances of the severe genetic electrolyte disturbances associated with sudden death.

9.
Chinese Journal of Practical Pediatrics ; (12): 559-562, 2019.
Article in Chinese | WPRIM | ID: wpr-817894

ABSTRACT

Carbohydrates are the important energy source of body,including glucose,galactose,fructose and glycogen. Congenital enzymes defects will cause carbohydrates metabolic disorders. Most of the carbohydrate metabolic disorders could lead to hypoglycemia. Most patients presented with chronic disease course. But some patients with serious diseases,such as glycogen storage disease type I,fructose-1,6-bisphosphate deficiency,presented as acute onset with critical illness,resulting in hypoglycemia and multiple organ damage(encephalopathy,cardiomyopathy,hepatopathy and myopathy). Most of the carbohydrate metabolic disorders have good prognosis if the prompt diagnosis and proper intervention are available. Sudden death occurred in some severe cases. Post-morterm study by metabolic autopsy is important to conform the diagnosis and directive genetic counseling.

10.
Chinese Journal of Practical Pediatrics ; (12): 551-555, 2019.
Article in Chinese | WPRIM | ID: wpr-817892

ABSTRACT

Mitochondrial fatty acid β-oxidation defects are series of underlying fatal diseases. The enzyme deficiencies caused by related gene mutations would lead to energy metabolic crisis and multi-organ damage. The clinical features of the patients are varied. The disease course ranged from acute to chronic,with mild to severe symptoms. Some previously healthy patients presented as sudden unexpected death due to acute cardiac death. With the development and the application of biochemical and genetic technologies in the metabolic autopsy,mitochondrial fatty acid β-oxidation disorders were recognized to be the genetic cause of sudden death. By expanded neonatal screening using tandem mass spectrometry,the patients could be detected at asymptomatic period or early stage of disease. Early intervention is the key to reduce the mortality and the disability.

11.
Chinese Journal of Practical Pediatrics ; (12): 548-551, 2019.
Article in Chinese | WPRIM | ID: wpr-817891

ABSTRACT

Organic acidurias(OA)are a group of diseases that cause carboxylic acid accumulation due to some enzyme deficiencies in the metabolic process,and they are also one of the most common hereditary metabolic diseases. The clinical characteristics of this kind of disease lack specificity and acute attack can occur under some metabolic pressures,such as metabolic acidosis,hypoglycemia,hyperammonia,acute encephalopathy,and even sudden death. With the development of tandem mass spectrometry and gas phase mass spectrometry,and the prevalence of screening for genetic metabolic diseases in neonates,more and more OA have been discovered and enough attention has been paid to this disease by medical workers. The relationship between organic acid metabolic diseases with sudden death and critical illness was analyzed in this paper.

12.
Chinese Journal of Practical Pediatrics ; (12): 542-547, 2019.
Article in Chinese | WPRIM | ID: wpr-817890

ABSTRACT

Sudden death syndrome is the leading cause of child death in high income countries. It affects neonates to adults. The seemly healthy person suddenly died during a daily activity,sleep or exercise. Underlying genetic disorders are main causes of sudden cardiac death or brain death. Sudden unexplained death syndrome was first noted in 1977 in the United States of America. In some countries such as the United States of America,England,Thailand and Japan,the etiological studies were performed in the cases died suddenly. Those studies showed that heart attack and encephalopathy due to varied genetic disorders are the two major causes. Sudden cardiac death accounts for more than half of the cases. Sudden death or sudden death-like syndrome,would be the first manifestation of underlying inherited metabolic disorders and endocrine disorders,such as primary carnitine deficiency,long QT syndrome,arrhythmia,hypomagnesemia,hypokalemia,hyperkalemia,hypocalcemia,hypoglycemia,mitochondrial diseases,etc. Inherited metabolic disorders and endocrine disorders include thousands of diseases,such as amino acids,organic acids,glucose,fatty acids and electrolytes metabolic disturbance. Some patients presented as acute critical illness and sudden death. Some disorders could be detected by newborn screening or selective screening using biochemical,electrophysiological,imaging,pathological or genetic techniques. The mortality and disability could be reduced by effective intervention of diet and medicine.

13.
Chinese Journal of Practical Pediatrics ; (12): 19-22, 2019.
Article in Chinese | WPRIM | ID: wpr-817818

ABSTRACT

Multiple acyl-CoA dehydrogenase deficiency,also known as glutaric aciduria typeⅡ,is an autosomal recessive inherited metabolic disease. It is a mitochondrial electron transport chain and fatty acid metabolism disorder caused by a defect of electron transfer flavoprotein(ETF)or ETF dehydrogenase(ETFDH),resulting in the damage to multiple organs such as myocardia,liver,brain and skeletal muscle. The clinical diagnosis of multiple acyl-CoA dehydrogenase deficiency is difficult due to the lack of specific symptoms and signs of the patients. To make a definitive diagnosis,blood aminoacids and acylcarnitine profiles,urinary organic acids profiles and gene analysis are necessary. According to the response to ribo-flavin(or vitamin B2),multiple acyl-CoA dehydrogenase deficiency could be divided into riboflavin-responsive form and riboflavin-unresponsive form. The riboflavin-responsive form is usually observed in the late-onset cases with good outcome.The patients of riboflavin-unresponsive form usually have early-onset with severe diseases. Bezafibrate, L-carnitine,coenzyme Q10,sodium-D,L-3-hydroxybutyrate and low-fat die should be considered for the treatment. Some patients with riboflavin-unresponsive form show poor outcome.

14.
Journal of Peking University(Health Sciences) ; (6): 409-413, 2019.
Article in Chinese | WPRIM | ID: wpr-941828

ABSTRACT

OBJECTIVE@#X-linked adrenoleukodystrophy (ALD) is a severe inherited disorder leading to rapid neurological deterioration and premature death. Allogeneic hematopoietic stem cell transplantation (HSCT) is still the only treatment that halts the neurologic symptoms in ALD. However, many patients lack suitable human leukocyte antigen (HLA) matched related donors and must rely on alternative donors for a source of stem cells. The purpose of this study was to explore the outcomes of haploidentical allogeneic stem cell transplantation for ALD patients.@*METHODS@#Between December 2014 and December 2018, eight children with ALD lacking HLA matched related or unrelated donors were treated with haploidentical allogeneic hematopoietic stem cell transplantation. The patients received conditioning regimen with busulfan 9.6 mg/kg, cyclophosphamide 200 mg/kg and fludarabine 90 mg/m2. Graft-versus-host disease (GVHD) prophylaxis consisted of anti-human thymocyte globulin, cyclosporine A, mycophenolate mofetil and short course of methotrexate.@*RESULTS@#All the 8 children received allogeneic stem cell transplants from their fathers. The median age of the recipients was 8 (range: 5-12) years. The median age of the donors was 36 (range: 32-40) years. All the recipients received granulocyte colony-stimulating factor (G-CSF) mobilized bone marrow and peripheral blood-derived stem cells. The median number of total mononuclear cells dose and CD34+ dose was 10.89 (range: 9.40-12.16)×108/kg and 7.06 (range: 0.74-7.80)×106/kg, respectively. Neutrophil engraftment occurred a median of 11 days (range:8-13 days) after transplantation. Platelet engraftment occurred a median of 10 days (range:8-12 days) after transplantation. All the patients achieved complete donor chimerism at the time of engraftment. Four patients had grades II-IV acute GVHD and 1 had chronic graft-versus-host disease. No severe chronic GVHD occurred. Among all the children, 2 had cytomegalovirus (CMV) DNAemia and 2 Epstein-Barr virus (EBV) DNAemia. Overall, seven of them survived and had no major complications related to transplantation. One died of cerebral hernia after epilepsy 125 days after transplantation.@*CONCLUSION@#The preliminary observation demonstrates that haploidentical allogeneic stem cell transplantation with this novel regimen could successfully achieve full donor chimerism in ALD patients. According to our experience, haploidentical allogeneic hematopoietic stem cell transplantation is safe and feasible in the treatment of X-linked adrenoleukodystrophy.


Subject(s)
Adult , Child , Child, Preschool , Humans , Adrenoleukodystrophy/therapy , Bone Marrow Transplantation , Chromosomes, Human, X , Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Transplantation Conditioning
15.
Chinese Journal of Contemporary Pediatrics ; (12): 944-949, 2018.
Article in Chinese | WPRIM | ID: wpr-776688

ABSTRACT

A boy aged 6 years and 3 months developed upper respiratory tract infection and pyrexia 2 months ago and was given oral administration of nimesulide by his parents according to directions. Half an hour later, the boy experienced convulsions and cardiopulmonary arrest, and emergency examination found hypoketotic hypoglycemia, metabolic acidosis, significant increases in serum aminotransferases and creatine kinase, and renal damage. Recovery of consciousness and vital signs was achieved after cardiopulmonary resuscitation, but severe mental and movement regression was observed. The boy had a significant reduction in free carnitine in blood and significant increases in medium- and long-chain fatty acyl carnitine, urinary glutaric acid, 3-hydroxy glutaric acid, isovalerylglycine, and ethylmalonic acid, suggesting the possibility of multiple acyl-CoA dehydrogenase deficiency. After the treatment with vitamin B2, L-carnitine, and bezafibrate, the boy gradually improved, and reexamination after 3 months showed normal biochemical parameters. The boy had compound heterozygous mutations in the ETFDH gene, i.e., a known mutation, c.341G>A (p.R114H), from his mother and a novel mutation, c.1484C>G (p.P495R), from his father. Finally, he was diagnosed with multiple acyl-CoA dehydrogenase deficiency. Reye syndrome and sudden death symptoms were caused by nimesulide-induced acute metabolic crisis. It is concluded that inherited metabolic diseases may be main causes of Reye syndrome and sudden death, and biochemical and genetic analyses are the key to identifying underlying diseases.


Subject(s)
Child , Humans , Male , Acyl-CoA Dehydrogenase , Administration, Oral , Carnitine , Death, Sudden , Respiratory Tract Infections , Reye Syndrome , Sulfonamides
16.
Chinese Journal of Contemporary Pediatrics ; (12): 426-430, 2016.
Article in Chinese | WPRIM | ID: wpr-261215

ABSTRACT

A one-year-old girl visited the hospital due to limb torsion and developmental regression for one month after hand, foot and mouth disease. At the age of 11 months, she visited a local hospital due to fever for 5 days and skin rash with frequent convulsions for 2 days and was diagnosed with severe hand, foot and mouth disease, viral encephalitis, and status epilepticus. Brain MRI revealed symmetric abnormal signals in the bilateral basal ganglia, bilateral thalamus, cerebral peduncle, bilateral cortex, and hippocampus. She was given immunoglobulin, antiviral drugs, and anticonvulsant drugs for 2 weeks, and the effect was poor. Blood and urine screening for inherited metabolic diseases were performed to clarify the etiology. The analysis of urine organic acids showed significant increases in glutaric acid and 3-hydroxyglutaric acid, which suggested glutaric aciduria type 1, but her blood glutarylcarnitine was normal, and free carnitine significantly decreased. After the treatment with low-lysine diets, L-carnitine, and baclofen for 1 month, the patient showed a significant improvement in symptoms. Hand, foot and mouth disease is a common viral infectious disease in children, and children with underlying diseases such as inherited metabolic diseases and immunodeficiency may experience serious complications. For children with hand, foot and mouth disease and unexplained encephalopathy, inherited metabolic diseases should be considered.


Subject(s)
Female , Humans , Infant , Amino Acid Metabolism, Inborn Errors , Brain Diseases, Metabolic , Developmental Disabilities , Glutaryl-CoA Dehydrogenase , Hand, Foot and Mouth Disease , Torsion Abnormality
17.
Chinese Journal of Contemporary Pediatrics ; (12): 460-465, 2016.
Article in Chinese | WPRIM | ID: wpr-261209

ABSTRACT

Glutaric aciduria type 1 is a rare autosomal recessive disorder. GCDH gene mutations cause glutaryl-CoA dehydrogenase deficiency and accumulation of glutaric acid and 3-hydroxyglutaric acid, resulting in damage of striatum and other brain nucleus and neurodegeneration. Patients with glutaric aciduria type 1 present with complex heterogeneous phenotypes and genotypes. The symptoms are extremely variable. The ages of the clinical onset of the patients range from the fetus period to adulthood. The patients with mild glutaric aciduria type 1 are almost asymptomatic before onset, however, severe glutaric aciduria type 1 may cause death or disability due to acute encephalopathy. Acute metabolic crisis in patients with underlying glutaric aciduria type 1 is often triggered by febrile illnesses, trauma, hunger, high-protein foods and vaccination during a vulnerable period of brain development in infancy or early childhood. The early-onset patients usually have a poor prognosis. Urinary organic acids analysis, blood acylcarnitines analysis and GCDH study are important for the diagnosis of this disorder. Neonatal screening is essential for the early diagnosis and the improvement of prognosis.


Subject(s)
Humans , Infant, Newborn , Amino Acid Metabolism, Inborn Errors , Diagnosis , Genetics , Therapeutics , Brain Diseases, Metabolic , Diagnosis , Genetics , Therapeutics , Genotype , Glutaryl-CoA Dehydrogenase , Genetics , Neonatal Screening , Phenotype , Prenatal Diagnosis , Prognosis
18.
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
19.
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
20.
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
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