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 , SulfonamidesABSTRACT
Objective To observe the clinical effect of digital subtraction angiography (DSA) combined with double-chamber Fogarty catheter in venous crisis after replantation of severed extremities. Methods A total of 12 cases with venous crisis after replantation of severed extremities treated by DSA combined with double-chamber Fogarty catheter from June 2011 to January 2016 were included in this study. Results Eleven cases survived after operation. Healing status of surgical incisions was stageⅠfor all patients. Of which osteofascial compartment syndrome was found in 1 case, and it was cured by surgical incision treatment; liver damage was found in another case, and acute liver damage was treated by comprehensive treatment of internal medicine. The postoperative venous thrombosis was found again in one case. The patient underwent exploratory surgery, and venous thrombosis was found again, limb partial necrosis was found, amputation was perform, and the incision was healed in Ⅰ stage. Complications including vascular rupture, air embolism, infection and sepsis were not found in all patients. Thrombosis was presented in the vein, the length of 0.6-4.2 cm. A total of 11 patients were treated with Fogarty catheters and followed up for 11 months (7 months to 29 months). The limb shape of the patient was satisfactory, blood supply of limb was improved, and capillary filling time was 1.5-3.3 s, swelling degree was improved, skin temperature was normal or lower than the limb 0.6-1.5℃, the skin color was normal, the activity improved, the feeling of recovery S0-S4 levels, the average in the S3 + level, two-point discrimination was 3-8 mm with an average of 4.5 mm. According to the evaluation criteria of the replantation function of the limb replantation of the Chinese Medical Association, 5 cases were excellent, 4 cases were good and 2 cases were poor. Conclusion The application of DSA combined with double-chamber Fogarty balloon catheter for the treatment of venous crisis shows precise localization of thrombosis, increased targeting venous branch in blood vessels, minimally invasion, quick, and satisfactory clinical results.
ABSTRACT
Objective To observe the clinical effect of digital subtraction angiography (DSA) combined with double-chamber Fogarty catheter in venous crisis after replantation of severed extremities. Methods A total of 12 cases with venous crisis after replantation of severed extremities treated by DSA combined with double-chamber Fogarty catheter from June 2011 to January 2016 were included in this study. Results Eleven cases survived after operation. Healing status of surgical incisions was stageⅠfor all patients. Of which osteofascial compartment syndrome was found in 1 case, and it was cured by surgical incision treatment; liver damage was found in another case, and acute liver damage was treated by comprehensive treatment of internal medicine. The postoperative venous thrombosis was found again in one case. The patient underwent exploratory surgery, and venous thrombosis was found again, limb partial necrosis was found, amputation was perform, and the incision was healed in Ⅰ stage. Complications including vascular rupture, air embolism, infection and sepsis were not found in all patients. Thrombosis was presented in the vein, the length of 0.6-4.2 cm. A total of 11 patients were treated with Fogarty catheters and followed up for 11 months (7 months to 29 months). The limb shape of the patient was satisfactory, blood supply of limb was improved, and capillary filling time was 1.5-3.3 s, swelling degree was improved, skin temperature was normal or lower than the limb 0.6-1.5℃, the skin color was normal, the activity improved, the feeling of recovery S0-S4 levels, the average in the S3 + level, two-point discrimination was 3-8 mm with an average of 4.5 mm. According to the evaluation criteria of the replantation function of the limb replantation of the Chinese Medical Association, 5 cases were excellent, 4 cases were good and 2 cases were poor. Conclusion The application of DSA combined with double-chamber Fogarty balloon catheter for the treatment of venous crisis shows precise localization of thrombosis, increased targeting venous branch in blood vessels, minimally invasion, quick, and satisfactory clinical results.
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 AbnormalityABSTRACT
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, MaternalABSTRACT
CTB protein possessed mucosal adjuvant immunoactivity. The CTB gene was amplified by PCR method from a strain V. cholerae. The nucleotide sequence of CTB gene was 375 bp and shared 96.0%~99.2% homology with other 6 CTB genes. The recombinant plasmid pTWIN1-CTB transformed E. coli strain BL21(DE3) expressed with 0.8 mmol/L IPTG. The molecular weight of expression products was identical with expectative weight by SDS-PAGE electrophoresis. The CTB fusion proteins mainly assembled inclusion bodies and the outputs of proteins were approximately 20% of the total bacterial proteins. The CTB proteins possessed mucosal immunoactivity by GM1-ELISA assay.