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1.
Pediatr Neonatol ; 2023 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-38000929

RESUMO

BACKGROUND: This study aimed to understand the longitudinal relationship between psychosocial stress with tic exacerbation in children with Tourette syndrome (TS) and chronic tic disorder. METHODS: Consecutive ratings of tic severity as well as child and parental reports of psychosocial stress were obtained for 373 children (296 males, 77 females; mean age 9y 5mo; SD 3y 3mo) with TS and chronic tic disorder between January 2018 and December 2020. The Yale Global Tic Severity Scale (YGTSS) global severity score, total tic score, and impairment rating were calculated. The stressful events and YGTSS measurements were used and treated as time-varying variables in the analyses. Models that controlled for non-independence among the repeated observations using a random intercept and random slope model were employed. Each participant was treated as a random factor in the modelling. RESULTS: Family-related stress, personal relationship stress and school-related stress were independently associated with increasing YGTSS global severity, total tic score, and impairment rating over time. An increased number of stressful events were associated with increased severity of tics. CONCLUSION: Family, personal relationships, and school-related stress were consistently associated with the exacerbation of tics. Managing these stressful events is important in the treatment of TS and chronic tic disorder.

2.
Nutrients ; 15(18)2023 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-37764756

RESUMO

Apoptosis, a programmed cell death process preventing cancer development, can be evaded by cancer cells. AMP-activated protein kinase (AMPK) regulates energy levels and is a key research topic in cancer prevention and treatment. Some bioactive components of Hibiscus sabdariffa L. (HAs), including anthocyanins, have potential anticancer properties. Our study investigated the in vitro cytotoxic potential and mode of action of HAs extracts containing anthocyanins in colorectal cancer cells. The results showed that Hibiscus anthocyanin-rich extracts induced apoptosis in human colorectal cancer cells through the activation of multiple signaling pathways of AMPK. We observed the dose-response and time-dependent induction of apoptosis with HAs. Subsequently, the activation of Fas-mediated proteins triggered apoptotic pathways associated with Fas-mediated apoptosis-related proteins, including caspase-8/tBid. This caused the release of cytochrome C from the mitochondria, resulting in caspase-3 cleavage and apoptosis activation in intestinal cancer cells. These data elucidate the relationship between Has' regulation of apoptosis-related proteins in colorectal cancer cells and apoptotic pathways.

3.
Animals (Basel) ; 13(18)2023 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-37760257

RESUMO

In prior research on the mitochondrial genome (mitogenome) of Polypedates megacephalus, the one copy of ND5 gene was translocated to the control region (CR) and the ATP8 gene was not found. Gene loss is uncommon among vertebrates. However, in this study, we resequenced the mitogenomes of P. megacephalus from different regions using a "primer bridging" approach with Sanger sequencing technologies, which revealed the "missing" ATP8 gene in P. megacephalus as well as three other previously published Polypedates. The mitogenome of this species was found to contain two copies of the ND5 genes and three copies of the control regions. Furthermore, multiple tandem repeats were identified in the control regions. Notably, we observed that there was no correlation between genetic divergence and geographic distance. However, using the mitogenome, gene expression analysis was performed via RT-qPCR of liver samples and it was thus determined that COIII, ND2, ND4, and ND6 were reduced to 0.64 ± 0.24, 0.55 ± 0.34, 0.44 ± 0.21 and 0.65 ± 0.17, respectively, under low-temperature stress (8 °C) as compared with controls (p < 0.05). Remarkably, the transcript of long non-coding RNA (lncRNA) between positions 8029 and 8612 decreased significantly with exposure to low-temperature stress (8 °C). Antisense ND6 gene expression showed a downward trend, but this was not significant. These results reveal that modulations of protein-coding mitochondrial genes and lncRNAs of P. megacephalus play a crucial role in the molecular response to cold stress.

4.
Gene ; 880: 147603, 2023 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-37422176

RESUMO

The mitochondrial genome (mitogenome) plays an important role in phylogenetic studies of many species. The mitogenomes of many praying mantis groups have been well-studied, but mitogenomes of special mimic praying mantises, especially Acanthopoidea and Galinthiadoidea species, are still sorely lacking in the NCBI database. The present study analyzes five mitogenomes from four species of Acanthopoidea (Angela sp., Callibia diana, Coptopteryx sp., Raptrix fusca) and one of Galinthiadoidea (Galinthias amoena) that were sequenced by the primer-walking method. Among Angela sp. and Coptopteryx sp., three gene rearrangements were detected in ND3-A-R-N-S-E-F and COX1-L2-COX2 gene regions, two of which were novel. In addition, individual tandem repeats were found in control regions of four mitogenomes (Angela sp., C. diana, Coptopteryx sp., G. amoena). For those, plausible explanations were derived from the tandem duplication-random loss (TDRL) model and the slipped-strand mispairing model. One potential motif was found in Acanthopidae that was seen as a synapomorphy. Several conserved block sequences (CBSs) were detected within Acanthopoidea that paved the way for the design of specific primers. Via BI and ML analysis, based on four datasets (PCG12, PCG12R, PCG123, PCG123R), the merged phylogenetic tree within Mantodea was reconstructed. This showed that the monophyly of Acanthopoidea was supported and that the PCG12R dataset was the most suitable for reconstructing the phylogenetic tree within Mantodea.


Assuntos
Genoma Mitocondrial , Mantódeos , Animais , Mantódeos/genética , Filogenia , Genoma Mitocondrial/genética , Insetos/genética , Rearranjo Gênico
5.
Talanta ; 265: 124888, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37393714

RESUMO

Real-time and continuous monitoring of lactate levels in sweat has been used as an indicator of physiological information to evaluate exercise outcomes and sports performance. We developed an optimal enzyme-based biosensor to detect the concentrations of lactate in different fluids (i.e., a buffer solution and human sweat). The surface of the screen-printed carbon electrode (SPCE) was first treated with oxygen plasma and then surface-modified by lactate dehydrogenase (LDH). The optimal sensing surface of the LDH-modified SPCE was identified by Fourier transform infrared spectroscopy and electron spectroscopy for chemical analysis. After connecting the LDH-modified SPCE to a benchtop E4980A precision LCR meter, our results showed that the measured response was dependent on the lactate concentration. The recorded data exhibited a broad dynamic range of 0.1-100 mM (R2 = 0.95) and a limit of detection of 0.1 mM, which was unachievable without the incorporation of redox species. A state-of-the-art electrochemical impedance spectroscopy (EIS) chip was developed to integrate the LDH-modified SPCE for a portable bioelectronic platform in the detection of lactate in human sweat. We believe the optimal sensing surface can improve the sensitivity of lactate sensing in a portable bioelectronic EIS platform for early diagnosis or real-time monitoring during different physical activities.


Assuntos
Técnicas Biossensoriais , Carbono , Humanos , Carbono/química , Ácido Láctico/análise , Suor/química , Eletrodos , Espectroscopia Dielétrica , Técnicas Biossensoriais/métodos , Técnicas Eletroquímicas
6.
IEEE Trans Biomed Circuits Syst ; 17(4): 857-871, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37339024

RESUMO

This article presents a multimodal electrochemical sensing system-on-chip (SoC), including the functions of cyclic voltammetry (CV), electrochemical impedance spectroscopy (EIS), and temperature sensing. CV readout circuitry achieves an adaptive readout current range of 145.5 dB through an automatic range adjustment and resolution scaling technique. EIS has an impedance resolution of 9.2 m Ω/√ Hz at a sweep frequency of 10 kHz and an output current of up to 120 µA. With an impedance boost mechanism, the maximum detectable load impedance is extended to 22.95 k Ω, while the total harmonic distortion is less than 1%. A resistor-based temperature sensor using a swing-boosted relaxation oscillator can achieve a resolution of 31 mK in 0-85 °C. The design is implemented in a 0.18 µm CMOS process. The total power consumption is 1 mW.


Assuntos
Espectroscopia Dielétrica , Dispositivos Lab-On-A-Chip , Impedância Elétrica , Temperatura , Análise de Sequência com Séries de Oligonucleotídeos , Técnicas Eletroquímicas
7.
Genes (Basel) ; 13(10)2022 10 02.
Artigo em Inglês | MEDLINE | ID: mdl-36292664

RESUMO

In this study, the mitochondrial (mt) genomes of Siphluriscus chinensis (Ephemeroptera: Siphluriscidae) were evaluated in specimens collected from two sites in China: Niutou Mountain, Zhejiang Province (S. chinensis NTS) and Leigong Mountain, Guizhou Province (S. chinensis LGS) and were successfully sequenced. The lengths of the mt genomes of S. chinensis NTS and S. chinensis LGS were 15,904 bp (ON729390) and 15,212 bp (ON729391), respectively. However, an in-depth comparison of the two mt genomes showed significant differences between the specimens collected from the two sites. A detailed analysis of the genetic distance between S. chinensis NTS and S. chinensis LGS was undertaken to further achieve an accurate delimitation of S. chinensis. The genetic distance between S. chinensis NTS and the other three species within Siphluriscidae was a high value, above 12.2%. The two mt genomes were used to reconstruct phylogenetic relationships and estimate divergence time. The results demonstrated robust differences between S. chinensis NTS and S. chinensis LGS, which revealed that a kind of cryptic species existed. Maximum likelihood (ML) and Bayesian inference (BI) analyses produced well-supported phylogenetic trees that showed evolutionary relationships between Siphluriscidae (((S. chinensis HQ875717 + S. chinensis MF352165) + S. chinensis LGS) + S. chinensis NTS). The most recent common ancestor (MRCA) of four species within Siphluriscidae began to diversify during the Neogene [11.80 million years ago (Mya); 95% highest posterior densities (HPD) = 6.17-19.28 Mya], and S. chinensis NTS was first to diverge from the branches of S. chinensis LGS. In short, based on mitochondrial genomes, our results showed that the specimens collected from Leigong Mountain, Guizhou Province (S. chinensis LGS) belonged to S. chinensis, and the specimens collected from Niutou Mountain, Zhejiang Province (S. chinensis NTS) were a cryptic species of S. chinensis.


Assuntos
Ephemeroptera , Genoma Mitocondrial , Animais , Genoma Mitocondrial/genética , Filogenia , Teorema de Bayes , Variação Genética/genética
8.
Insects ; 13(7)2022 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-35886740

RESUMO

Long non-coding regions (NCRs) and gene rearrangements are commonly seen in mitochondrial genomes of Mantodea and are primarily focused on three regions: CR-I-Q-M-ND2, COX2-K-D-ATP8, and ND3-A-R-N-S-E-F-ND5. In this study, eight complete and one nearly complete mitochondrial genomes of praying mantises were acquired for the purpose of discussing mitochondrial gene rearrangements and phylogenetic relationships within Mantodea, primarily in the newly established families Haaniidae and Gonypetidae. Except for Heterochaeta sp. JZ-2017, novel mitochondrial gene arrangements were detected in Cheddikulama straminea, Sinomiopteryx graham, Pseudovates chlorophaea, Spilomantis occipitalis. Of note is the fact that one type of novel arrangement was detected for the first time in the Cyt b-S2-ND1 region. This could be reliably explained by the tandem replication-random loss (TDRL) model. The long NCR between trnT and trnP was generally found in Iridopteryginae and was similar to the ND4L or ND6 gene. Combined with gene rearrangements and intergenic regions, the monophyly of Haaniidae was supported, whereas the paraphyly of Gonypetidae was recovered. Furthermore, several synapomorphies unique to some clades were detected that conserved block sequences between trnI and trnQ and gaps between trnT and trnP in Toxoderidae and Iridopteryginae, respectively.

9.
Insects ; 13(7)2022 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-35886796

RESUMO

Based on morphological characteristics to make species identification, the cryptic species of the Scutigeromorpha can be greatly underestimated. The mitochondrial genome provides a desirable tool for the biological identifications and the discovery of the cryptic species. The capacity to acquire mitochondrial genome sequences has substantially improved in recent years using next-generation sequencing (NGS) technology. On the basis of the next-generation sequencing, we obtained four complete mitochondrial genomes of Thereuonema tuberculata (Wood, 1862) from Nanyang, Henan Province (NY), Nanchang, Jiangxi Province (NC), Jinan, Shandong Province (JN), and Dali, Yunnan Province (DL) in China with GenBank numbers OK513221, OL449685, ON058988 and ON058989, respectively. The lengths of the four mitochondrial genomes ranged from 14,903 to 14,909 bp. The composition and order of genes of the four mitochondrial genomes were identical to the published mitochondrial genome of Scutigera coleoptrata (Linnaeus, 1758) (Scutigeromorpha: Scutigerdae). It was the first time that the tandem repeats in the control region were detected in Scutigeromorpha. We also calculated the corrected pairwise genetic distance of four complete mitochondrial genomes of T. tuberculata, ranging from 7.7 to 15.2%. The results showed that the T.tuberculata NC belonged to the typical sample of T. tuberculata, and T. tuberculata DL was hypothesized as a cryptic species of T. tuberculata. Meanwhile, T. tuberculata NY and T. tuberculata JN were hypothesized as potential cryptic species of T. tuberculata in this study. In both BI and ML trees, the monophyly of Scutigeromorpha, Scolopendromorpha, Geophilomorpha, and Lithobiomorpha was forcefully advocated. Moreover, Scutigeromorpha was recovered as the sister clade of (Scolopendromorpha + (Lithobiomorpha + Geophilomorpha)). Four specimens of T. tuberculata were clustered into one clade, which was the sister to the clade of S. coleoptrata.

10.
Mitochondrial DNA B Resour ; 7(6): 1093-1095, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35756439

RESUMO

The phylogenetic relationship of Ephemeridae (Insect: Ephemeroptera) remains hotly debated using mitochondrial (mt) genomes. All previously reported mt genomes of Ephemeridae belong to the genus Ephemera. This study provides the first complete mt genome sequence from the genus Hexagenia with an analysis of the mitogenome of Hexagenia rigida Mc Dunnough, 1924 (Ephemeroptera: Ephemeridae) and providing new information to discuss the phylogenetic relationships within Ephemeroptera. The complete mt genome of H. rigida was a circular molecule of 16,159 bp in length, containing 37 genes (2 rRNA genes, 13 protein-coding genes, 22 tRNA genes), which showed the typical mt gene arrangement of insects. The AT content of the whole genome was 70.0% and the length of the control region was 1091 bp. All protein-coding genes used ATN as the start codon, and most PCGs used TAA/TAG as the stop codons excluding COI, COII, ND5 and Cyt b that used T as the stop codon. BI and ML phylogenetic trees constructed from 27 species of 13 families showed that Ephemeridae is a sister clade to the clade Polymitarcyidae.

11.
Mitochondrial DNA B Resour ; 7(6): 1011-1014, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35756444

RESUMO

The complete mitochondrial (mt) genome of Leptomantella tonkinae (Hebard, 1920) was 15,527 bp in length and contained 13 protein-coding genes, 22 transfer RNAs, two ribosomal RNAs, and one control region. The gene arrangement of mt genome of L. tonkinae was identical to the primitive mantis. The overall AT content of the mt genome was 74%. In ML and BI phylogenetic analyses, the monophyly of Leptomantellidae was robustly supported and the clade of Leptomantellidae is a sister clade to the group of (Gonypetidae+(Leptomantellidae+(Amorphoscelidae+Nanomantidae))).

12.
Pediatr Neonatol ; 62(2): 158-164, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33214065

RESUMO

BACKGROUND: To analyze the findings of cranial ultrasonographic screening in asymptomatic neonates and to assess the association between abnormal results and neurodevelopment. METHODS: We retrospectively reviewed the cranial ultrasonographic screening results of healthy neonates born between 35 and 42 weeks gestation at our hospital from October 2011 to October 2018. RESULTS: In total, 11,681 neonates underwent cranial ultrasonographic screening during the study period, and 9666 (82.7%) had normal results. Of 2015 neonates with abnormal findings, 294 had more than two abnormalities. The most common minor findings were subependymal cysts (8.99%), choroid plexus cysts (2.43%), lenticulostriate vasculopathy (2.34%), frontal horn cysts (1.80%), and enlarged cisterna magna (1.04%). Then, 33 (0.28%) neonates had major abnormalities, including cerebral hemorrhage, periventricular heterotopia, focal cortical dysplasia, anomalies of the corpus callosum, and vascular malformation. Of 1334 neonates who underwent serial clinical evaluations, 76 (5.69%) had neurodevelopmental disorders, including developmental delay, attention-deficit/hyperactivity disorder, and autistic spectrum disorder. CONCLUSION: The incidence rate of intracranial anomalies in healthy neonates was 17.3%, and about 5.69% had neurodevelopmental disorders. Cranial ultrasonographic screening has its own value in helping early detection of intracranial anomalies in healthy neonates, some of which have prognostic implications.


Assuntos
Encéfalo/diagnóstico por imagem , Transtornos do Neurodesenvolvimento/diagnóstico , Ultrassonografia , Encefalopatias/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Masculino , Malformações do Sistema Nervoso/diagnóstico por imagem , Estudos Retrospectivos
13.
BMJ Open ; 10(8): e034634, 2020 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-32819930

RESUMO

OBJECTIVE: The Yale Global Tic Severity Scale (YGTSS) is the most commonly used clinician-rated evaluation tool for Tourette syndrome (TS), with established reliability and validity. This study aims to determine whether the YGTSS is a valid parent-reported assessment in the TS population. DESIGN: A prospective cohort study. SETTING: A major medical centre in Taiwan. METHODS: A total of 594 patients were enrolled. A revised traditional Chinese version of the YGTSS was made available to parents via Google docs. Parents were encouraged to complete the YGTSS the day before each outpatient clinic visit. At each visit, a paediatric neurology fellow also administered the YGTSS assessment. We investigated whether differences in scores between physicians and parents changed as the number of parent evaluations increased. The results of the physician assessments were also taken as the expert standard for evaluating the sensitivity and specificity of the parent-reported assessments was conducted for the same visit. RESULTS: The differences in the YGTSS scores between participants and physicians were small. The mean difference in the total assessment score was 4.15 points. As the number of times the parent evaluation was performed increased, the difference between the parent and physician scores decreased. Discrimination of moderate-to-severe attacks was good using the parent-assessed YGTSS (area under the receiver operating characteristic curve, 0.858; 95% CI 0.839 to 0.876). The sensitivity for detecting a moderate-to-severe attack by YGTSS parent assessment was 79.7% (95% CI 76.6 to 82.8), and the specificity was 91.8% (95% CI 89.9 to 93.7). CONCLUSION: The parent-reported YGTSS is a promising tool for TS assessment, demonstrating good discriminative ability for disease severity, with user precision increasing with experience.


Assuntos
Tiques , Criança , Humanos , Pais , Estudos Prospectivos , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Taiwan
14.
J Med Ultrasound ; 27(3): 154-157, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31867181

RESUMO

Trapped temporal horn of lateral ventricle (TTHLV) is a rare condition of isolated focal hydrocephalus. We report two cases with different presentations, etiologies, and surgical managements. The first case involved an extremely preterm male baby with a history of ventriculitis and intraventricular hemorrhage; he received external ventricle drainage twice due to obstructive hydrocephalus. TTHLV was detected by sonography. He received a ventriculoperitoneal shunt involving two catheters to bypass the adhesion site. There was no ventricular dilatation during 2 years of follow-up. The second case involved a term baby with an enlarged head; brain sonography revealed left focal hydrocephalus with TTHLV and mild midline shift. Neuroendoscopic cystoventriculostomy with fenestration from the left trigone to the frontal horn was performed and serial follow-up brain sonography for 3 months showed decreased ventricle size. The suitable surgical techniques for the management of TTHLV should be adjusted according to the patients' condition to obtain more favorable outcomes. Brain sonography can be a useful tool for the diagnosis and for following up the surgical outcomes in infants with TTHLV.

15.
Front Neurol ; 9: 661, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30186218

RESUMO

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is one of the most frequently encountered autoimmune encephalitis. The pathogenesis of both anti-NMDAR encephalitis and schizophrenia involve down-regulation of NMDA receptors. Whether autoantibody-mediated destruction of neuronal NMDA receptors is associated with schizophrenia or first-episode psychosis (FEP) remains unclear, as the current findings from different groups are inconsistent. The main culprits are likely due to heterogeneity of autoantibodies (autoAbs) in a patient's blood or cerebrospinal fluid (CSF), as well as due to limitation of the current detection methods for anti-NMDAR autoAbs. Here, we optimized the current diagnostic method based on the only commercially-available anti-NMDAR test kit. We first increased detection sensitivity by replacing reporter fluorophore fluorescein isothiocyanate (FITC) in the kit with Alexa Fluor 488, which is superior in resisting photobleaching. We also found that using an advanced imaging system could increase the detection limit, compared to using a simple fluorescence microscope. To improve test accuracy, we implemented secondary labeling with a well-characterized mouse anti-NR1 monoclonal antibody (mAb) after immunostaining with a patient's sample. The degree of colocalization between mouse and human antisera in NMDAR-expressing cells served to validate test results to be truly anti-NMDAR positive or false-positive. We also incorporated DNA-specific DAPI to simultaneously differentiate autoAbs targeting the plasma membrane from those targeting cell nuclei or perinuclear compartments. All the technical implementation could be integrated in a general hospital laboratory setting, without the need of specialized expertise or equipment. By sharing our experience, we hope this may help improve sensitivity and accuracy of the mainstream method for anti-NMDAR detection.

16.
Sci Rep ; 8(1): 11650, 2018 08 03.
Artigo em Inglês | MEDLINE | ID: mdl-30076335

RESUMO

Submarine groundwater discharge (SGD) is the submarine seepage of all fluids from coastal sediments into the overlying coastal seas. It has been well documented that the SGD may contribute a great deal of allochthonous nutrients to the coastlines. It is, however, less known how much carbon enters the ocean via the SGD. Nutrients (NO3, NO2, NH4, PO4, SiO2), alkalinity and dissolved inorganic carbon (DIC) in the submarine groundwater were measured at 20 locations around Taiwan for the first time. The total N/P/Si yields from the SGD in Taiwan are respectively 3.28 ± 2.3 × 104, 2.6 ± 1.8 × 102 and 1.89 ± 1.33 × 104 mol/km2/a, compared with 9.5 ± 6.7 × 105 mol/km2/a for alkalinity and 8.8 ± 6.2 × 105 mol/km2/a for DIC. To compare with literature data, yields for the major estuary across the Taiwan Strait (Jiulong River) are comparable except for P which is extremely low. Primary production supported by these nutrient outflows is insufficient to compensate the DIC supplied by the SGD. As a result, the SGD helps making the coastal waters in Taiwan and Jiulong River heterotrophic.

17.
Pediatr Neonatol ; 58(1): 89-92, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-25771438

RESUMO

Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results in the unique kinky hair appearance, neurodegeneration, developmental delay, seizures, failure to thrive and other connective tissue or organ abnormalities. Other than biochemical tests, DNA-based diagnosis is now playing an important role. More than two hundred mutations in ATP7A gene were identified. Early copper supplementation can help improve neurological symptoms, but not non-neurological problems. Further molecular studies are needed to identify additional mutation types and to understand the mechanism of pathogenesis. This may help in discovering the possible treatment measures to cure the disease. We present a case with the clinical features and biochemical findings, abnormal brain magnetic resonance imaging as well as the effects of treatment with copper-histidine. Direct sequencing of ATP7A gene revealed a de novo point mutation which resulted in an early stop codon with truncated protein.


Assuntos
Adenosina Trifosfatases/genética , Proteínas de Transporte de Cátions/genética , Síndrome dos Cabelos Torcidos/diagnóstico , Síndrome dos Cabelos Torcidos/genética , Mutação Puntual/genética , ATPases Transportadoras de Cobre , Histidina/análogos & derivados , Histidina/uso terapêutico , Humanos , Lactente , Masculino , Síndrome dos Cabelos Torcidos/tratamento farmacológico , Compostos Organometálicos/uso terapêutico
18.
J Med Ultrasound ; 25(4): 240-243, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-30065500

RESUMO

Neonatal brain tumor is rare and its outcome is generally poor. We reported a 17-day-old neonate presented as enlarged head girth. The pathological finding showed an embryonal tumor with multilayered rosettes.

19.
Acta Neurol Taiwan ; 24(1): 15-8, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26179685

RESUMO

PURPOSE: Reversible splenial lesion syndrome is a distinct clinicoradiological syndrome with diverse etiologies. Hypoglycemia induced reversible splenial lesion syndrome has been documented in adults and children, but rare in neonates. We demonstrate a neonate with hypoglycemia presenting with a typical reversible splenial syndrome. CASE REPORT: Patient A four-day-old male neonate had hypoglycemia and seizure, whose symptoms improved soon after glucose supplementation. Magnetic resonance imaging examination showed restricted diffusion of the splenium of the corpus callosum. Proton MR spectroscopy revealed a decreased N-acetylaspartate peak. The lesion resolved in subsequent MRI images. The patient is free from clinical symptoms and has normal development currently. CONCLUSION: The patient presented typical clinical course and radiological features of reversible splenial lesion syndrome. Through timely and proper treatment, the outcome could be favorable.


Assuntos
Ácido Aspártico/análogos & derivados , Corpo Caloso/patologia , Hipoglicemia/metabolismo , Doenças do Recém-Nascido/metabolismo , Convulsões/metabolismo , Ácido Aspártico/metabolismo , Corpo Caloso/metabolismo , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino
20.
Luminescence ; 28(3): 419-26, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-22826126

RESUMO

Three novel p-hydroxybenzoic acid derivatives (HSOP, HSOX, HSCP) were synthesized from p-hydroxybenzoic acid and sulfonamides (sulfamonomethoxine sodium, sulfamethoxazole and sulfachloropyridazine sodium) and characterized by elemental analysis, HNMR and MS. Interactions between derivatives and bovine serum albumin (BSA) were studied by fluorescence quenching spectra, UV-vis absorption spectra and time-resolved fluorescence spectra. Based on fluorescence quenching calculation and Förster's non-radioactive energy transfer theory, the values of the binding constants, basic thermodynamic parameters and binding distances were obtained. Experimental results indicated that the three derivatives had a strong ability to quench fluorescence from BSA and that the binding reactions of the derivatives with BSA were a static quenching process. Thermodynamic parameters showed that binding reactions were spontaneous and exothermic and hydrogen bond and van der Waals force were predominant intermolecular forces between the derivatives and BSA. Synchronous fluorescence spectra suggested that HSOX and HSCP had little effect on the microenvironment and conformation of BSA in the binding reactions but the microenvironments around tyrosine residues were disturbed and polarity around tyrosine residues increased in the presence of HSOP.


Assuntos
Hidroxibenzoatos/química , Soroalbumina Bovina/química , Animais , Bovinos , Fluorescência , Ligação Proteica , Termodinâmica
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