Abstract:
:The objective of this study is to explore the incidence of inherited metabolic disorders (IMD) in infants with infantile spasms (IS), with an attempt to improve the early diagnosis and etiological and symptomatic treatment. Urine and blood samples were collected from 60 IS patients and analyzed for the quantification of amino acids, organic acids, and fatty acids by gas chromatography-mass spectrometry and tandem mass spectrum. Routine urine tests, hepatic function tests, blood biochemistry, brain imaging, as well as examinations of the brain stem auditory/visual evoked potentials were also examined. In addition to antiepileptic therapy, etiological and symptomatic treatments were also conducted in infants with confirmed IMD and the follow-up lasted for 6 months in these pediatric patients. Metabolic disorders were found in 28 (46.67 %) of 60 IS infants, among them 13 (21.67 %) were confirmed to be with IMD. Twelve of these 13 IS patients with definite IMD diagnoses (92.31 %) experienced varying degrees of delayed development of intelligence and motor function, 8 patients (61.54 %) had abnormal cranial CT or MRI findings, 11 patients (84.61 %) had abnormal brain stem evoked potentials, 4 patients (30.77 %) had abnormal hepatic functions, 3 patients (23.07 %) had abnormal blood biochemistry, 2 patients (15.38 %) had positive (+ to ++) results for routine urine ketones, and 2 patients (15.38 %) had skin lesions. After treatment in children who were diagnosed IMD, the well controlled epileptic seizures and the satisfactory developments in mental and motor were found in 4 cases of methylmalonic acidemia, 2 cases of classical phenylketonuria, and one case of biotin deficiency disease, glutaric acidemia type I, and 4-hydroxybutyric aciduria in each. IMD is a key biological cause in IS. Early screening for IMD is warranted in IS infants to facilitate the improvement for the prognosis and an early etiological treatment.
journal_name
Cell Biochem Biophysjournal_title
Cell biochemistry and biophysicsauthors
Liu XM,Li R,Chen SZ,Sang Y,Chen J,Fan CHdoi
10.1007/s12013-014-0404-8subject
Has Abstractpub_date
2015-05-01 00:00:00pages
61-5issue
1eissn
1085-9195issn
1559-0283pii
10.1007/s12013-014-0404-8journal_volume
72pub_type
杂志文章abstract::The present study aimed at detecting DNA damage and fragmentation as well as histone acetylation depending on oxidative stress caused by CCl4 intoxication. Also, the protective role of N-acetyl cysteine, a precursor for GSH, in DNA damage is investigated. Sixty rats were used in this study. In order to induce liver to...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-0031-4
更新日期:2014-11-01 00:00:00
abstract::Calcium channel blockers have been used in the treatment of coronary artery spasm for many years. However, there is insufficient knowledge about their application to treat atrioventricular block caused by coronary spasm. Clinical data of five patients who were diagnosed with coronary spasm caused by atrioventricular b...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-0498-z
更新日期:2015-06-01 00:00:00
abstract::Previous studies have shown that A. lumbricoides extracts capture sialic acid (SA) from human red blood cells (RBC). The aim of this work was to study hemorheological alterations in vitro caused by parasite larvae. The biorheological action of three larva concentrates of first and second larval stage on group O erythr...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-012-9425-3
更新日期:2013-03-01 00:00:00
abstract::Spectral karyotyping is a novel technique for chromosome analysis that has been developed based on the approach of the fluorescence in situ hybridization technique. Spectral karyotyping makes it feasible to diagnose a variety of diseases, because of its technology in painting each of the 24 human chromosomes with diff...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章,评审
doi:10.1007/s12013-011-9285-2
更新日期:2012-01-01 00:00:00
abstract::The functions of membrane proteins are highly dependent on their phospholipid environment. In this article, we have used a hydrophobic photolabeling method to study the noncovalent interactions between plasma membrane calcium pump (PMCA) and surrounding phospholipids. With this approach, we determined (1) the number o...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1385/cbb:44:3:431
更新日期:2006-01-01 00:00:00
abstract::The precise regulation of both the magnitude and the duration of Janus kinase (JAK) catalytic activity is essential for the cytokine orchestration of many biological processes, and the dysregulation of JAK activity has pathological implications. Immunosuppressive disease states, such as X-linked severe combined immuno...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章,评审
doi:10.1385/CBB:34:1:17
更新日期:2001-01-01 00:00:00
abstract::To investigate if the 12-lead resting electrocardiogram (ECG) is a predictor of left ventricular (LV) functional recovery after revascularization of chronic total coronary artery occlusions (CTO). Revascularization was performed in 58 CTO patients who had impaired regional wall motion. The 12-lead resting ECG was used...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-9862-2
更新日期:2014-09-01 00:00:00
abstract::One nanosecond molecular dynamic (MD) simulation of anti-hen egg white lysozyme (HEL) antibody HyHEL63 (HH63) complexed with HEL reveals rigid and flexible regions of the HH63 binding site. Fifty conformations, extracted from the MD trajectory at regular time intervals were superimposed on HH63-HEL X-ray crystal struc...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1385/CBB:43:2:253
更新日期:2005-01-01 00:00:00
abstract::We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-p...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-013-9532-9
更新日期:2013-09-01 00:00:00
abstract::In recent studies, sulforaphane (SFN) has been seen to demonstrate antioxidant and anti-tumor activities as well as potent chemopreventive action against cancer. The present study investigates the anti-proliferation (using MTT assay, SFN demonstrated cytotoxic activity against GBM 8401 cell with IC(50) values at 35.52...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-012-9360-3
更新日期:2012-07-01 00:00:00
abstract::We study the suitable depth for epidural puncture in primiparas so as to decrease epidural complications and provide anesthesiologists with an appropriate insertion guide. A prospective study of 87 primipara patients receiving labor analgesia who had epidural punctures in the course of vaginal delivery were randomly d...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-0277-x
更新日期:2015-03-01 00:00:00
abstract::The peritoneal mesothelium acts as a regulator of serosal responses to injury, infection, and neoplastic diseases. After inflammation of the serosal surfaces, proinflammatory cytokines induce an "activated" mesothelial cell phenotype, the mitochondrial aspect of which has not previously been studied. After incubation ...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1385/CBB:44:2:179
更新日期:2006-01-01 00:00:00
abstract::Gastrointestinal stromal tumors (GISTs) are defined as spindle cell and/or epithelioid tumors originated from interstitial Cajal cells or precursors in the digestive tract. This study was conducted to identify genes differing in expression between the gastric tumors and the adjacent non-cancerous mucosas in patients w...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-0504-5
更新日期:2015-06-01 00:00:00
abstract::To assess the image quality of monochromatic imaging from spectral CT in patients with Budd-Chiari syndrome (BCS), fifty patients with BCS underwent spectral CT to generate conventional 140 kVp polychromatic images (group A) and monochromatic images, with energy levels from 40 to 80, 40 + 70, and 50 + 70 keV fusion im...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-0021-6
更新日期:2014-11-01 00:00:00
abstract::MicroRNAs (miRs) play important roles in initiation and progression of many pathologic processes. However, the roles of miRs in diabetic nephropathy remain unclear. This study was to determine whether miR-21 was involved in diabetic nephropathy and to explore the relationship between miR-21 and MMP9/TIMP1 expression i...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-013-9539-2
更新日期:2013-11-01 00:00:00
abstract::We have examined the association of insulin receptors (IR) and downstream signaling molecules with membrane microdomains in rat basophilic leukemia (RBL-2H3) cells following treatment with insulin or tris(2-pyridinecarbxylato)chromium(III) (Cr(pic)(3)). Single-particle tracking demonstrated that individual IR on these...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-011-9326-x
更新日期:2012-04-01 00:00:00
abstract::Peroxisomal and mitochondrial carnitine acetyltransferase (CAT; EC 2.3.1.7) isozymes are synthesized from the first and second ATG codons of the open reading frame of one gene, Candida tropicalis CAT. Primer extension analysis and RNase protection assay revealed that the peroxisomal CAT, initiating at the second AUG c...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1385/cbb:32:1-3:139
更新日期:2000-01-01 00:00:00
abstract::This study is aimed to investigate the efficacy and underlying the mechanism of propofol in treatment of ischemia reperfusion (IR)-induced lung injury in rats, providing a novel insight of therapeutic strategy for IR-induced lung injury. 120 healthy SD rats were selected and randomly divided into sham operation group,...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-0088-0
更新日期:2014-12-01 00:00:00
abstract::Cadmium (Cd) is a potent toxic element used in several industries and in the process contaminates air, soil, and water. Exposure of Saccharomyces cerevisiae to Cd increases the major phospholipids, and profound increase was observed in phosphatidylethanolamine (PE). In yeast, there are four different pathways contribu...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-013-9667-8
更新日期:2013-01-01 00:00:00
abstract::Curcumin possesses anti-cancer effects. In the current study, we tested the effect of curcumin on cell proliferation, viability, apoptosis, cell cycle phases, and activation of the PI3K/Akt pathway in the renal cell carcinoma (RCC) cell line RCC-949. We observed that cell proliferation and viability were markedly inhi...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-015-0694-5
更新日期:2015-12-01 00:00:00
abstract::Fibroblasts can be reprogrammed by ectopic expression of reprogramming factors to yield induced pluripotent stem (iPS) cells that are capable of transdifferentiating into diverse types of somatic cell lines. In this study, we examined if functional cardiomyocytes (CMs) can be produced from mouse cardiac fibroblasts (C...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-012-9487-2
更新日期:2013-06-01 00:00:00
abstract::The PCI domain comprises approx 200 amino acids and is found in subunits of the eukaryotic translation initiation factor 3 (eIF3), the 26S proteasome and the COP9/signalosome complexes. The PCI domain is involved in protein-protein interaction, and mouse INT6 truncated proteins lacking the PCI domain show cell maligna...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1385/CBB:44:3:522
更新日期:2006-01-01 00:00:00
abstract::The bis-retinoid N-retinyl-N-retinylidene ethanolamine (A2E) is formed as a byproduct of visual cycle in retinal pigment epithelium (RPE). It contributes to golden-yellow fluorescence of the age pigment lipofuscin, which accumulates in RPE. Lipofuscin can generate a variety of reactive oxygen species (ROS) upon blue-l...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-020-00942-1
更新日期:2020-12-01 00:00:00
abstract::The purpose of this study is to investigate the analgesic effect of intrathecal injection of chemokine receptor CCR2 antagonist RS102895, and its effect on spinal expression of N-methyl-D-aspartate (NMDA) receptor NR2B subunit, neuronal nitric oxide synthase (nNOS), and SIGIRR in a rat model of bone cancer pain (BCP)....
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-0510-7
更新日期:2015-06-01 00:00:00
abstract::P2Y receptors are classified as P2 purinergic receptors that belong to the superfamily of G-protein coupled receptors. They are distinguishable from P1 (adenosine) receptors in that they bind adenine and/or uracil nucleotide triphosphates or diphosphates depending on the subtype. Over the past decade, P2Y receptors ha...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章,评审
doi:10.1385/CBB:39:1:75
更新日期:2003-01-01 00:00:00
abstract::This study was aimed to compare the outcomes of two operational methods used for the fixation of calcaneal fracture, the open reduction using a plate and the minimally invasive cannulated screw fixations. Thus, we attempted to find out as to which of these fixation regimens was therapeutically superior by assessing im...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s12013-014-0436-0
更新日期:2015-05-01 00:00:00
abstract::We have studied the mechanisms of NaCl transport in the mammalian proximal tubule. Studies of isolated brush-border membrane vesicles confirmed the presence of Na+-H+ exchange and identified Cl(-)-formate and Cl(-)-oxalate exchangers as possible mechanisms of uphill Cl- entry. We found that formate and oxalate each st...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章,评审
doi:10.1385/CBB:36:2-3:147
更新日期:2002-01-01 00:00:00
abstract::The objective of this study was to assess the clinical and histopathological relationship between pulmonary fibrosis and type 1 diabetes. We examined clinical pulmonary function parameters and transbronchial lung biopsies to assess associated histopathological changes in 12 type 1 diabetic patients presenting with dys...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-014-0068-4
更新日期:2014-11-01 00:00:00
abstract::A rapid and sensitive liquid chromatography-tandem mass spectrometry assay (LC-MS/MS) with electrospray ionization was developed and validated for the quantitative determination of the concentration of methotrexate (MTX) enantiomers in intracellular and extracellular fluids of HepG2 cells. The analytes were extracted ...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-013-9666-9
更新日期:2013-01-01 00:00:00
abstract::Our objective is to investigate the promoting effect of hypoxic preconditioning combined with microbubble (MB)-mediated ultrasound (US) on the SDF-1/CXCR4 expression and the migration ability of mesenchymal stem cells (MSCs). Based on the uniform design, the parameters of MB-mediated US, such as the total treatment ti...
journal_title:Cell biochemistry and biophysics
pub_type: 杂志文章
doi:10.1007/s12013-015-0698-1
更新日期:2015-12-01 00:00:00