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1.
Taehan Yongsang Uihakhoe Chi ; 83(2): 254-264, 2022 Mar.
Artigo em Coreano | MEDLINE | ID: mdl-36237922

RESUMO

The Korean Society of Radiology and Medical Guidelines Committee amended the existing 2016 guidelines to publish the "Korean Clinical Practice Guidelines for Adverse Reactions to Iodide Contrast for Injection and Gadolinium Contrast for MRI: The Revised Clinical Consensus and Recommendations (2022 Third Edition)." Expert members recommended and approved by the Korean Society of Radiology, the Korean Academy of Asthma, Allergy and Clinical Immunology, and the Korean Nephrology Society participated together. According to the expert consensus or systematic literature review, the description of the autoinjector and connection line for the infection control while using contrast medium, the acute adverse reaction, and renal toxicity to iodized contrast medium were modified and added. We would like to introduce the revised contents.

2.
J Korean Med Sci ; 36(6): e34, 2021 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-33559405

RESUMO

BACKGROUND: The patients with coronavirus disease 2019 (COVID-19), a worldwide pandemic infection, frequently complain of olfactory disorders. However, psychophysical olfactory tests performed by an examiner are very difficult in these highly infectious patients. This study aimed to develop and validate a questionnaire for olfactory function that can be readily used to evaluate olfactory loss. METHODS: Fourteen smell-related questions were created based on smells familiar to Koreans. Among them, questions with a κ value of 0.6 or higher were finally selected through a test-retest reliability analysis. The correlations between the scores of the olfactory questionnaire and those of olfactory function tests (Butanol Threshold Test [BTT] and Cross Cultural Smell Identification Test [CCSIT]) were analyzed. To evaluate the predictive ability of the questionnaire and elicit cutoff values, receiver operating characteristic (ROC) curves were generated. RESULTS: Out of the 14 questions in the questionnaire, 11 (κ > 0.6) were selected for the olfactory questionnaire. We analyzed 2,273 subjects, and there was a significant correlation between the total score of the olfactory questionnaire and the BTT (r = 0.643, P < 0.001) or CCSIT (r = 0.615, P < 0.001) scores. ROC curves for the olfactory questionnaire, BTT, and CCSIT all demonstrated high predictive power to discriminate anosmia and severe hyposmia from normosmia. Regarding mild to moderate hyposmia, however, ROC curve for the olfactory questionnaire alone showed high predictive power of discrimination from normosmia. Based on the results of ROC curves among the subclasses, we suggest the classification of the total score of the questionnaire as 0-4, 5-17, 18-27, 28-41, and 42-44, for anosmia, severe hyposmia, moderate hyposmia, mild hyposmia, and normosmia, respectively. CONCLUSION: The total scores of the questionnaires correlated with the BTT and CCSIT scores. The symptom questionnaire for olfactory dysfunction may be useful as an alternative tool for olfactory function testing, when unavailable.


Assuntos
Anosmia/diagnóstico , Adulto , Anosmia/patologia , Anosmia/psicologia , Área Sob a Curva , Butanóis/química , COVID-19/complicações , COVID-19/patologia , COVID-19/virologia , Humanos , Masculino , Curva ROC , República da Coreia , Estudos Retrospectivos , SARS-CoV-2/isolamento & purificação , Índice de Gravidade de Doença , Olfato , Inquéritos e Questionários , Adulto Jovem
3.
Ann Rehabil Med ; 41(2): 257-265, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28503459

RESUMO

OBJECTIVE: To clarify the relationship of the initial radiologic and a biomechanical parameter at first clinical visit, and define the effectiveness of modified insole, following insole fitting in children with flexible flatfoot. METHODS: Children aged less than 13 years with flexible flatfoot were enrolled. The total number of subjects was 66 (33 boys, 33 girls). The subjects were divided into 5 subgroups, based on age: 1-2, 3-4, 5-6, 7-9, and 10-12 years. The mean time period between the initial & final examination for their resting calcaneal stance position angle (RCSPA) was 24 months. Radiography quantified the deformity by measuring angles, including the talometatarsal angle, the metatarsal angle, and the calcaneal pitch angle. RESULTS: From the angles measured on radiographs, only the talometatarsal angle showed a statistically significant correlation to the initial RCSPA (r=-0.578 for right side, r=-0.524 for left side; p<0.01). The mean RCSPA improved in all subgroups of subjects following insole fitting. Moreover, in children younger than 7 years, the improvement in RCSPA from the insole fitting was greater compared to children aged 7 years and older. CONCLUSION: The insole has additionally beneficial effects in all populations younger than 13 years. However, there might exist a hidden effect of normal structural pedal alignment during growth accompanied with bony maturation and developmental process. To date, it is controversial whether the treatment of flexible flatfoot is necessary in the vast majority of cases, or simple observation and advice to parents would suffice.

4.
Ann Rehabil Med ; 41(2): 332-336, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28503470

RESUMO

Precise measurement of postvoid residual (PVR) urine volume is a key factor in assessing patients with voiding dysfunction, including those with lower urinary tract problems. The safe and noninvasive ultrasound bladder scan is the preferred mode to measure PVR volume. However, this procedure has a false-positive rate up to 9%, in the presence of ovarian cysts, renal cysts, ascites, or uterine myoma with cystic degeneration. Until now, cystic lesions are known to cause false positivity in ultrasound bladder scanner. However, we encountered falsely-elevated PVR in two cases of non-cystic uterine myomas. We present these cases with detailed radiologic images and volume measurement data.

5.
Auris Nasus Larynx ; 44(3): 266-271, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27477570

RESUMO

OBJECTIVE: This study aimed to determine the radiation dose of temporal bone computed tomography (TBCT) to detect pediatric congenital cholesteatoma (CC), and suggests strategy for lowering perioperative radiation dose. METHODS: Fifty-three CC patients followed up for more than 12 months after surgery. Perioperative clinical findings and the effective radiation dose (ERD) of TBCT were investigated. Patients' mean age at initial TBCT was 60 months; the mean follow-up period was 43 months. RESULTS: In 33 (62.3%) of 53 patients, only one TBCT was performed postoperatively. Postoperative CT imaging was performed to evaluate before second-stage ossiculoplasty, due to suspicion of CC recurrence on examinations, or as part of follow-up. When TBCT was performed on more than two occasions after surgery as a part of follow-up, there was no difference in the distribution of stage or type of CC compared to patients subjected to TBCT on less than three occasions (p=0.093 and p=0.744, respectively). During the most-recent follow-up of these 53 cases, there was no CC recurrence. The mean ERD of a single TBCT was 1.2mSv, and the mean cumulative ERD of TBCT was 2mSv per patient. CONCLUSION: Mean and cumulative ERD of TBCT performed in CC cases was not too high to consider radiation hazard. However, efforts to minimize the number of CT scans should be taken basically.


Assuntos
Colesteatoma da Orelha Média/diagnóstico por imagem , Colesteatoma/congênito , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Criança , Pré-Escolar , Colesteatoma/diagnóstico por imagem , Colesteatoma/cirurgia , Colesteatoma da Orelha Média/cirurgia , Feminino , Humanos , Lactente , Masculino , Doses de Radiação , Estudos Retrospectivos , Osso Temporal/cirurgia
7.
PLoS One ; 10(12): e0144526, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26641645

RESUMO

Mass effect from polycystic kidney and liver enlargement can result in significant clinical complications and symptoms in autosomal dominant polycystic kidney disease (ADPKD). In this single-center study, we examined the correlation of height-adjusted total liver volume (htTLV) and total kidney volume (htTKV) by CT imaging with hepatic complications (n = 461) and abdominal symptoms (n = 253) in patients with ADPKD. "Mass-effect" complications were assessed by review of medical records and abdominal symptoms, by a standardized research questionnaire. Overall, 91.8% of patients had 4 or more liver cysts on CT scans. Polycystic liver disease (PLD) was classified as none or mild (htTLV < 1,600 mL/m); moderate (1,600 ≤ htTLV <3,200 mL/m); and severe (htTLV ≥ 3,200 mL/m). The prevalence of moderate and severe PLD in our patient cohort was 11.7% (n = 54/461) and 4.8% (n = 22/461), respectively, with a female predominance in both the moderate (61.1%) and severe (95.5%) PLD groups. Pressure-related complications such as leg edema (20.4%), ascites (16.6%), and hernia (3.6%) were common, and patients with moderate to severe PLD exhibited a 6-fold increased risk (compared to no or mild PLD) for these complications in multivariate analysis. Similarly, abdominal symptoms including back pain (58.8%), flank pain (53.1%), abdominal fullness (46.5%), and dyspnea/chest-discomfort (44.3%) were very common, and patients with moderate to severe PLD exhibited a 5-fold increased risk for these symptoms. Moderate to severe PLD is a common and clinically important problem in ~16% of patients with ADPKD who may benefit from referral to specialized centers for further management.


Assuntos
Cistos/complicações , Cistos/patologia , Hepatopatias/complicações , Hepatopatias/patologia , Rim Policístico Autossômico Dominante/etiologia , Rim Policístico Autossômico Dominante/patologia , Cistos/epidemiologia , Feminino , Seguimentos , Humanos , Hepatopatias/epidemiologia , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Rim Policístico Autossômico Dominante/epidemiologia , Prevalência , Prognóstico , República da Coreia/epidemiologia , Estudos Retrospectivos
9.
Clin Exp Otorhinolaryngol ; 8(2): 92-6, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26045905

RESUMO

OBJECTIVES: Tympanic membrane perforations are common, but there have been few studies of the factors determining the extent of the resulting conductive hearing loss. The aims of this study were to determine whether the size of tympanic membrane perforation, pneumatization of middle ear & mastoid cavity, and location of perforation were correlated with air-bone gap (ABG) of patients. METHODS: Forty-two patients who underwent tympanoplasty type I or myringoplasty were included and preoperative audiometry were analyzed. Digital image processing was applied in computed tomography for the estimation of middle ear & mastoid pneumatization volume and tympanic membrane photograph for the evaluation of perforation size and location. RESULTS: Preoperative mean ABG increased with perforation size (P=0.018), and correlated inversely with the middle ear & mastoid volume (P=0.005). However, perforations in anterior versus posterior locations showed no significant differences in mean ABG (P=0.924). CONCLUSION: The degree of conductive hearing loss resulting from a tympanic membrane perforation would be expected with the size of perforation and pneumatization of middle ear and mastoid.

10.
Chem Asian J ; 10(8): 1776-83, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26033848

RESUMO

Mesoporous Co3O4 nanosheets (Co3 O4 -NS) and nitrogen-doped reduced graphene oxide (N-rGO) are synthesized by a facile hydrothermal approach, and the N-rGO/Co3O4 -NS composite is formulated through an infiltration procedure. Eventually, the obtained composites are subjected to various characterization techniques, such as XRD, Raman spectroscopy, surface area analysis, X-ray photoelectron spectroscopy (XPS), and TEM. The lithium-storage properties of N-rGO/Co3O4 -NS composites are evaluated in a half-cell assembly to ascertain their suitability as a negative electrode for lithium-ion battery applications. The 2D/2D nanostructured mesoporous N-rGO/Co3O4 -NS composite delivered a reversible capacity of about 1305 and 1501 mAh g(-1) at a current density of 80 mA g(-1) for the 1st and 50th cycles, respectively. Furthermore, excellent cyclability, rate capability, and capacity retention characteristics are noted for the N-rGO/Co3O4 -NS composite. This improved performance is mainly related to the existence of mesoporosity and a sheet-like 2D hierarchical morphology, which translates into extra space for lithium storage and a reduced electron pathway. Also, the presence of N-rGO and carbon shells in Co3O4 -NS should not be excluded from such exceptional performance, which serves as a reliable conductive channel for electrons and act as synergistically to accommodate volume expansion upon redox reactions. Ex-situ TEM, impedance spectroscopy, and XPS, are also conducted to corroborate the significance of the 2D morphology towards sustained lithium storage.

11.
Analyst ; 140(10): 3384-9, 2015 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-25857344

RESUMO

Fluorescence resonance energy transfer (FRET) is widely used as a core process in biometric sensors to detect small molecules such as sugars, calcium ions, or amino acids. However, FRET based biosensors with innate weak signal intensity require the use of expensive, high-sensitive equipment. In the present study, these shortcomings were overcome with the fabrication of a sensitive, inexpensive, and portable analyzer which provides quantitative detection of small molecules in a liquid sample. The usability of the developed analyzer was successfully tested by measuring sucrose and maltose contents in commercially available beverage samples, with better performance than the conventional monochromator-type spectrofluorometer. It is anticipated that miniaturization of the equipment and improving the FRET based biosensors will contribute to the practical use of this hand-held analyzer in conditions where high-end equipment is not available.


Assuntos
Transferência Ressonante de Energia de Fluorescência/instrumentação , Maltose/análise , Sacarose/análise , Bebidas/análise , Técnicas Biossensoriais , Análise de Alimentos , Lanches , Fatores de Tempo
12.
Ann Rehabil Med ; 39(1): 142-5, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25750885

RESUMO

Acute transverse myelitis (ATM) is an upper motor neuron disease of the spinal cord, and concomitant association of peripheral polyneuropathy, particularly the axonal type, is rarely reported in children. Our cases presented with ATM complicated with axonal type polyneuropathy. Axonal type polyneuropathy may be caused by acute motor-sensory axonal neuropathy (AMSAN) or critical illness polyneuropathy and myopathy (CIPNM). These cases emphasize the need for nerve and muscle biopsies to make the differential diagnosis between AMSAN and CIPNM in patients with ATM complicated with axonal polyneuropathy.

13.
Medicine (Baltimore) ; 94(5): e446, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25654380

RESUMO

Bisphosphonates have been commonly used for the treatment of osteoporosis. However, there have been recent case reports of atypical fractures citing their long-term use, which inhibits the turnover of bone components. A 64-year-old woman visited the outpatient clinic with pain in her right thigh and ambulation difficulty. We found fractures at both pedicles of L4 vertebra. subtrochanteric region of right femur, and left femoral shaft upon a radiologic examination. She had taken intravenous ibandronic sodium for osteoporosis over 3 years. We changed the bishophonates to a parathyroid hormone because it was suspected that the multiple fractures were caused by the medication. Further, rehabilitation, including progressive weight bearing, was started. After 3 months of the conservative treatment, she was able to walk independently. In conclusion, it is necessary to evaluate the possibility of atypical fractures in osteoporotic patients when they complain of lower extremity pain and to consider alternative treatments instead of bisphosphonates.


Assuntos
Conservadores da Densidade Óssea/efeitos adversos , Difosfonatos/efeitos adversos , Fraturas Ósseas/induzido quimicamente , Densidade Óssea , Conservadores da Densidade Óssea/uso terapêutico , Difosfonatos/uso terapêutico , Feminino , Fêmur , Humanos , Ácido Ibandrônico , Vértebras Lombares , Pessoa de Meia-Idade , Osteoporose Pós-Menopausa/tratamento farmacológico
14.
Ann Rehabil Med ; 38(3): 335-41, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25024956

RESUMO

OBJECTIVE: To evaluate whether an initial complete impairment of spinal cord injury (SCI) contributes to the functional outcome prediction, we analyzed the relationship between the degree of complete impairment according to the American Spinal Injury Association impairment scale (AIS), the posterior tibial nerve somatosensory evoked potential (PTSEP) and the changes of functional indices. METHODS: Sixty subjects with SCI were studied who received rehabilitative management for over 2 months. The degree of completeness on basis of the initial AIS and PTSEP were evaluated at the beginning of rehabilitation. Following treatment, several functional indices, such as walking index for spinal cord injury version II (WISCI II), spinal cord independence measure version III (SCIM III), Berg Balance Scale (BBS), and Modified Barthel Index (MBI), were evaluated until the index score reached a plateau value. RESULTS: The recovery efficiency of WISCI and BBS revealed a statistically significant difference between complete and incomplete impairments of initial AIS and PTSEP. The SCIM and MBI based analysis did not reveal any significant differences in terms of the degree of AIS and PTSEP completeness. CONCLUSION: AIS and PTSEP were highly effective to evaluate the prognosis in post-acute phase SCI patients. BBS and WISCI might be better parameters than other functional indices for activities of daily living to predict the recovery of the walking ability in post-acute SCI.

15.
Nephron Exp Nephrol ; 126(3): 127-40, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24863135

RESUMO

BACKGROUND: Endoplasmic reticulum (ER) stress has been implicated in inducing epithelial-mesenchymal transition (EMT). ER stress is also known to induce autophagy. However, it is unclear whether ER stress-induced autophagy contributes to EMT. We hypothesized that ER stress might induce EMT through autophagy via activation of c-Src kinase in tubular epithelial cells. METHOD: All experiments were performed using HK-2 cells. Protein expression was measured by Western blot analysis. Immunofluorescence and small interfering RNA (siRNA) experiments were performed. RESULTS: Chemical ER stress inducers such as tunicamycin (TM, 0.2 µM) and thapsigargin (TG, 0.2 µM) induced EMT, as shown by upregulation of α-smooth muscle actin and downregulation of E-cadherin. ER stress inhibitors such as 4-PBA and salubrinal suppressed both TM- and TG-induced EMT. TM and TG also induced autophagy, as evidenced by upregulation of LC3-II and beclin-1, which were abolished by pretreatment with ER stress inhibitors. Transfection with siRNA targeting ER stress protein (IRE-1) blocked the TM- or TG-induced EMT and autophagy. Autophagy inhibitors such as 3-methyladenine and bafilomycin inhibited the TM- or TG-induced EMT. Transfection with siRNA targeting autophagy protein (beclin-1) also blocked the TM- or TG-induced EMT. Both TM and TG induced activation of c-Src kinase. Inhibitor of c-Src kinase (PP2) suppressed the TM- or TG-induced autophagy and EMT. CONCLUSION: ER stress by TM or TG induced EMT through autophagy via activation of c-Src kinase in tubular epithelial cells.


Assuntos
Autofagia/fisiologia , Estresse do Retículo Endoplasmático/fisiologia , Transição Epitelial-Mesenquimal/fisiologia , Túbulos Renais Proximais/enzimologia , Quinases da Família src/metabolismo , Autofagia/efeitos dos fármacos , Proteína Tirosina Quinase CSK , Linhagem Celular , Estresse do Retículo Endoplasmático/efeitos dos fármacos , Ativação Enzimática/efeitos dos fármacos , Ativação Enzimática/fisiologia , Transição Epitelial-Mesenquimal/efeitos dos fármacos , Humanos , Túbulos Renais Proximais/efeitos dos fármacos , Inibidores de Proteínas Quinases/farmacologia , Quinases da Família src/antagonistas & inibidores
16.
Am J Phys Med Rehabil ; 93(3): 267-71, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24141105

RESUMO

A 74-yr-old man developed left hemiplegia because of a right middle cerebral artery territory infarction and also had clinical features of dysphagia and speech difficulty. At that time, he complained of neck pain, but the symptom was ignored because he had a nasogastric tube and had been diagnosed with a huge epiglottic cyst that had already shown several symptoms such as severe hoarseness and throat discomfort. A videofluoroscopic swallowing study was planned to find out the cause and the type of dysphagia. On the videofluoroscopic swallowing study, a foreign body was found at the hypopharynx. Surprisingly, it was confirmed as a denture. After removing the denture, the patient's swallowing and speech difficulty were significantly improved. This case emphasizes the need for elderly stoke patients presenting with dysphagia or communication problems to receive more careful history taking and a more complete physical examination, with the cooperation of several clinical departments.


Assuntos
Dentaduras/efeitos adversos , Corpos Estranhos/etiologia , Corpos Estranhos/terapia , Hipofaringe , Acidente Vascular Cerebral/diagnóstico , Idoso de 80 Anos ou mais , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/etiologia , Fluoroscopia/métodos , Seguimentos , Corpos Estranhos/diagnóstico , Rouquidão/diagnóstico , Rouquidão/etiologia , Humanos , Intubação Gastrointestinal , Masculino , Anamnese , Cervicalgia/diagnóstico , Cervicalgia/etiologia , Medição de Risco , Índice de Gravidade de Doença , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/terapia , Resultado do Tratamento , Gravação em Vídeo
17.
Ann Rehabil Med ; 37(5): 740-4, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24236266

RESUMO

Acute multiple cranial neuropathies are considered as variant of Guillain-Barre syndrome, which are immune-mediated diseases triggered by various cases. It is a rare disease which is related to infectious, inflammatory or systemic diseases. According to previous case reports, those affected can exhibit almost bilateral facial nerve palsy, then followed by bulbar dysfunctions (cranial nerves IX and X) accompanied by limb weakness and walking difficulties due to motor and/or sensory dysfunctions. Furthermore, reported cases of the acute multiple cranial neuropathies show electrophysiological abnormalities compatible with the typical Guillain-Barre syndromes (GBS). We recently experienced a patient with a benign infectious disease who subsequently developed symptoms of variant GBS. Here, we describe the case of a 48-year-old male patient who developed multiple symptoms of cranial neuropathy without limb weakness. His laboratory findings showed a positive result for anti-GQ1b IgG antibody. As compared with previously described variants of GBS, the patient exhibited widespread cranial neuropathy, which included neuropathies of cranial nerves III-XII, without limb involvement or ataxia.

18.
PLoS One ; 8(8): e68692, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23990876

RESUMO

Identification of causative genes for hereditary nonsyndromic hearing loss (NSHL) is important to decide treatment modalities and to counsel the patients. Due to the genetic heterogeneity in sensorineural genetic disorders, the high-throughput method can be adapted for the efficient diagnosis. To this end, we designed a new diagnostic pipeline to screen all the reported candidate genes for NSHL. For validation of the diagnostic pipeline, we focused upon familial NSHL cases that are most likely to be genetic, rather than to be infectious or environmental. Among the 32 familial NSHL cases, we were able to make a molecular genetic diagnosis from 12 probands (37.5%) in the first stage by their clinical features, characteristic inheritance pattern and further candidate gene sequencing of GJB2, SLC26A4, POU3F4 or mitochondrial DNA. Next we applied targeted resequencing on 80 NSHL genes in the remaining 20 probands. Each proband carried 4.8 variants that were not synonymous and had the occurring frequency of less than three among the 20 probands. These variants were then filtered out with the inheritance pattern of the family, allele frequency in normal hearing 80 control subjects, clinical features. Finally NSHL-causing candidate mutations were identified in 13(65%) of the 20 probands of multiplex families, bringing the total solve rate (or detection rate) in our familial cases to be 78.1% (25/32) Damaging mutations discovered by the targeted resequencing were distributed in nine genes such as WFS1, COCH, EYA4, MYO6, GJB3, COL11A2, OTOF, STRC and MYO3A, most of which were private. Despite the advent of whole genome and whole exome sequencing, we propose targeted resequencing and filtering strategy as a screening and diagnostic tool at least for familial NSHL to find mutations based upon its efficacy and cost-effectiveness.


Assuntos
Análise Mutacional de DNA/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Conexina 26 , Conexinas/genética , Análise Custo-Benefício , Análise Mutacional de DNA/economia , DNA Mitocondrial/genética , Surdez/diagnóstico , Surdez/genética , Exoma , Éxons , Feminino , Humanos , Masculino , Proteínas de Membrana Transportadoras/genética , Pessoa de Meia-Idade , Mutação , Fatores do Domínio POU/genética , Reação em Cadeia da Polimerase , Probabilidade , Transportadores de Sulfato , Adulto Jovem
19.
BMC Genomics ; 14: 191, 2013 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-23506231

RESUMO

BACKGROUND: The genetic heterogeneity of sensorineural hearing loss is a major hurdle to the efficient discovery of disease-causing genes. We designed a multiphasic analysis of copy number variation (CNV), linkage, and single nucleotide variation (SNV) of whole exome sequencing (WES) data for the efficient discovery of mutations causing nonsyndromic hearing loss (NSHL). RESULTS: From WES data, we identified five distinct CNV loci from a NSHL family, but they were not co-segregated among patients. Linkage analysis based on SNVs identified six candidate loci (logarithm of odds [LOD] >1.5). We selected 15 SNVs that co-segregated with NSHL in the family, which were located in six linkage candidate loci. Finally, the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant. CONCLUSIONS: Here, we present a multiphasic CNV, linkage, and SNV analysis of WES data for the identification of a candidate mutation causing NSHL. Our stepwise, multiphasic approach enabled us to expedite the discovery of disease-causing variants from a large number of patient variants.


Assuntos
Variações do Número de Cópias de DNA/genética , Ligação Genética , Perda Auditiva Neurossensorial/genética , Sequência de Bases , Cristalografia por Raios X , Exoma/genética , Perda Auditiva Neurossensorial/patologia , Humanos , Linhagem , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
20.
Am J Physiol Renal Physiol ; 302(5): F606-13, 2012 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-22129969

RESUMO

Pyruvate is an endogenous antioxidant and anti-inflammatory substance. The present study was implemented to investigate the protective effect of ethyl pyruvate (EP) against the development and progression of diabetic nephropathy in an in vivo and in vitro model. Diabetic rats were prepared by injecting streptozotocin (65 mg/kg). Those that developed diabetes after 72 h were treated with EP (40 mg/kg) intraperitoneally. Diabetic rats without pyruvate treatment and nondiabetic rats were used for control. As an in vitro experiment, rat mesangial cells cultured primarily from Sprague-Dawley rats were treated in high-glucose (HG; 50 mM) or normal-glucose (NG; 5 mM) conditions and with or without pyruvate. Pyruvate-treated diabetic rats exhibited decreased albuminuria and attenuated NADPH-dependent reactive oxygen species generation. Immunohistochemistry showed reduced laminin, type IV collagen, and fibronectin deposition in the glomeruli compared with nontreated diabetic rats. Parallel changes were shown in tissue mRNA and protein expression levels of monocyte chemoattractant protein-1, transforming growth factor-ß1, laminin, fibronectin, and type IV collagen in the kidney. Concordantly, protective effects were also exhibited in the mesangial cell culture system. These findings suggest that pyruvate protects against kidney injury via NADPH oxidase inhibition. The present study established that activation of NADPH oxidase plays a crucial role in diabetes-induced oxidative stress, glomerular hypertrophy, and ECM molecule expression. Pyruvate exhibited a renoprotective effect in the progression of experimental diabetic nephropathy. Future research is warranted to investigate the protective mechanism of pyruvate more specifically in relation to NADPH oxidase in diabetic nephropathy.


Assuntos
Albuminúria/tratamento farmacológico , Nefropatias Diabéticas/tratamento farmacológico , Glomérulos Renais/efeitos dos fármacos , Piruvatos/uso terapêutico , Albuminúria/metabolismo , Albuminúria/fisiopatologia , Animais , Células Cultivadas , Quimiocina CCL2/metabolismo , Colágeno Tipo IV/metabolismo , Diabetes Mellitus Experimental/metabolismo , Diabetes Mellitus Experimental/fisiopatologia , Nefropatias Diabéticas/metabolismo , Nefropatias Diabéticas/fisiopatologia , Progressão da Doença , Fibronectinas/metabolismo , Glomérulos Renais/metabolismo , Glomérulos Renais/fisiopatologia , Laminina/metabolismo , Masculino , Células Mesangiais/citologia , Células Mesangiais/efeitos dos fármacos , Células Mesangiais/metabolismo , NADPH Oxidases/metabolismo , Estresse Oxidativo , Piruvatos/farmacologia , Ratos , Ratos Sprague-Dawley , Espécies Reativas de Oxigênio/metabolismo , Fator de Crescimento Transformador beta1/metabolismo
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