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1.
Zhongguo Dang Dai Er Ke Za Zhi ; 20(11): 944-949, 2018 Nov.
Artículo en Zh | MEDLINE | ID: mdl-30477628

RESUMEN

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.


Asunto(s)
Carnitina , Infecciones del Sistema Respiratorio , Síndrome de Reye , Acil-CoA Deshidrogenasa , Administración Oral , Niño , Muerte Súbita , Humanos , Masculino , Sulfonamidas
2.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(5): 426-30, 2016 May.
Artículo en Zh | MEDLINE | ID: mdl-27165592

RESUMEN

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.


Asunto(s)
Discapacidades del Desarrollo/etiología , Enfermedad de Boca, Mano y Pie/complicaciones , Anomalía Torsional/etiología , Errores Innatos del Metabolismo de los Aminoácidos/etiología , Encefalopatías Metabólicas/etiología , Femenino , Glutaril-CoA Deshidrogenasa/deficiencia , Humanos , Lactante
3.
J Mater Chem B ; 11(13): 2972-2988, 2023 03 30.
Artículo en Inglés | MEDLINE | ID: mdl-36919628

RESUMEN

Bacterial infection and poor osseointegration are two critical issues that need to be solved for long-term use of titanium implants. As such, Sr/Ag-containing TiO2 microporous coatings were prepared on a Ti alloy surface in the current study via a single-step microarc oxidation technique. The coatings showed both good cytocompatibility in vitro and biosafety in vivo. Sr/Ag incorporation brought no significant change in the surface micromorphology and physicochemical properties, but endowed the coating with strong osteogenic activity and long-term antibacterial capability in vitro. Furthermore, the osteogenic and antibacterial capability of the coating was also confirmed in vivo. In a rat osseointegration model, new bone formation, implant-bone contact, removal torque and bone mineralization were all significantly increased in the M-Sr/Ag group when compared with those in group M, although they were slightly lower than those in group M-Sr. In a periimplantitis model, no rats suffered infection in the M-Sr/Ag group after 3 months of osseointegration and 5 weeks of bacterial inoculation period, when compared to 100% and 75% infection rates in M and M-Sr groups, respectively. In addition, active bone remodeling and many mesenchymal cells were observed in the M-Sr group, suggesting good bone regeneration potential in Sr-containing coatings in the case of controlled periimplantitis. Overall, the Sr/Ag-containing TiO2 microporous coating is valuable for preventing periimplantitis and improving implant reosseointegration, and is therefore promising for long-term and high quality use of titanium implants.


Asunto(s)
Periimplantitis , Titanio , Humanos , Titanio/farmacología , Titanio/química , Osteogénesis , Materiales Biocompatibles Revestidos/farmacología , Materiales Biocompatibles Revestidos/química , Antibacterianos/farmacología , Antibacterianos/química
4.
Dongwuxue Yanjiu ; 32(5): 476-84, 2011 Oct.
Artículo en Zh | MEDLINE | ID: mdl-22006798

RESUMEN

Tetrahymena has a high genetic polymorphism of metallothionein proteins. These protein isoforms can be divided into subfamilies 7a and 7b. We used real-time quantitative PCR to test the expression levels of Tetrahymena thermophila metallothionein genes MTT2 and MTT4 after exposure to different inducers, including Hg, Cu, Cd, Zn and H(2)O(2). Both genes were most efficiently induced by Cu and secondly by Hg. Their expression was slightly up-regulated after exposure to Cd and Zn, but down-regulated by H(2)O(2). The expression pattern differed from those reported in the 7a subfamily, but was consistent with 7b subfamily members. However, the induced expression level of MTT4 was much higher than that of MTT2, which might be due to differences in their upstream regulatory elements (AP-1, MRE). The high similarities in gene structures and functions indicate that MTT2 and MTT4 were generated by recent gene duplication following the dosage balance model.


Asunto(s)
Evolución Molecular , Metalotioneína/química , Metalotioneína/metabolismo , Proteínas Protozoarias/química , Proteínas Protozoarias/metabolismo , Tetrahymena thermophila/genética , Secuencia de Aminoácidos , Secuencia de Bases , Estabilidad de Enzimas , Duplicación de Gen , Regulación Enzimológica de la Expresión Génica , Metalotioneína/genética , Datos de Secuencia Molecular , Familia de Multigenes , Proteínas Protozoarias/genética , Alineación de Secuencia , Tetrahymena thermophila/química , Tetrahymena thermophila/metabolismo
5.
Dongwuxue Yanjiu ; 32(3): 267-76, 2011 Jun.
Artículo en Zh | MEDLINE | ID: mdl-21698792

RESUMEN

Thirteen hsp70 genes with complete conserved domains were identified in Tetrahymena thermophila, and expression of five similar and non-intron hsp70 genes were analyzed. Under heat shock conditions of 37, 39 and 41oC, hsp70-2 mRNA had the highest relative expression level, suggesting it is closely related to heat shock. The basal level of constitutive T. thermophila hsp70-4 gene was high during 20 physiological/developmental stages of growth, starvation and conjugation, and it changed little upon exposure to heat shock: evidence that hsp70-4 is an hsc70 gene. The hsp70-4 cDNA is 2 208 bp long, and contains an open reading frame of 1 959 bp encoding 635 amino acids. Microarray data indicated that T. thermophila hsp70-3 gene probably participated in early starvation (0-12 h) stress and late conjugation (6-10 h) events, such as new macronuclear and micronuclear anlagen formation and old macronuclear elimination. However, hsp70-5 gene possibly participates in late starvation (12-15 h) stress and early conjugation (0-6 h) events such as micronuclear meiosis, micronuclear exchange and pronuclear fusion. Blast2GO indicated that they participated in dissimilar biological processes, suggesting hsp70-3 and hsp70-5 perform different functions.


Asunto(s)
Regulación del Desarrollo de la Expresión Génica , Proteínas HSP70 de Choque Térmico/genética , Familia de Multigenes , Proteínas Protozoarias/genética , Tetrahymena thermophila/genética , Secuencia de Aminoácidos , Secuencia de Bases , Proteínas HSP70 de Choque Térmico/química , Proteínas HSP70 de Choque Térmico/metabolismo , Respuesta al Choque Térmico , Datos de Secuencia Molecular , Filogenia , Proteínas Protozoarias/metabolismo , Alineación de Secuencia , Tetrahymena thermophila/clasificación , Tetrahymena thermophila/crecimiento & desarrollo , Tetrahymena thermophila/fisiología
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