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1.
Dent Traumatol ; 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38576359

RESUMO

BACKGROUND AND AIM: Various patterns of alcohol consumption are associated with trauma and violence. The aim of this study was to assess the association between traumatic dental injuries (TDI) due to violence and different patterns of alcohol consumption in Korean adults. MATERIALS AND METHODS: A cross-sectional study was conducted with representative sample of Korean adults. Among the total participants, 11.8% (6489/58,999) experienced TDI, and 0.9% (520/58,999) experienced TDI due to violence. The associations between various types of alcohol consumption (frequency of drinking, frequency of binge drinking, age of first drinking) and TDI due to violence were assessed using logistic regression analyses. We confirmed differences in the prevalence experience of TDI due to violence with various types of alcohol consumption by confounders (socioeconomic status). RESULTS: All types of drinking (frequency of drinking, frequency of binge drinking, age of first drinking) were strongly associated with TDI due to violence. After adjusting for confounders, those who started drinking at the age of 18 or younger and drank 4 or more days a week (OR: 2.86, 95% CI: 1.68-4.88), those who started drinking at the age of 18 or younger and drank 3 days or less a week (OR: 2.37, 95% CI: 1.40-4.02), and those who started drinking at the age of 18 or younger and binge drinking at least once a week (OR: 3.18, 95% CI: 1.79-5.65) had higher prevalence of TDI due to violence compared to those with no alcohol drinking. CONCLUSIONS: This study presents evidence of an association between various types of alcohol consumption and TDI due to violence in Korean adults. These findings suggest the necessity for policies aimed at reducing alcohol consumption, frequency of drinking, and access to drinking especially in adolescent to reduce the prevalence experience of TDI due to violence.

2.
Am J Med Genet A ; 182(5): 1167-1176, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32181591

RESUMO

The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of SMA-like disorders that are independent of SMN1, including those due to pathogenic variants in the glycyl-tRNA synthetase gene (GARS1). We report three unrelated patients with de novo variants in GARS1 that are associated with infantile-onset SMA (iSMA). Patients were ascertained during inpatient hospital evaluations for complications of neuropathy. Evaluations were completed as indicated for clinical care and management and informed consent for publication was obtained. One newly identified, disease-associated GARS1 variant, identified in two out of three patients, was analyzed by functional studies in yeast complementation assays. Genomic analyses by exome and/or gene panel and SMN1 copy number analysis of three patients identified two previously undescribed de novo missense variants in GARS1 and excluded SMN1 as the causative gene. Functional studies in yeast revealed that one of the de novo GARS1 variants results in a loss-of-function effect, consistent with other pathogenic GARS1 alleles. In sum, the patients' clinical presentation, assessments of previously identified GARS1 variants and functional assays in yeast suggest that the GARS1 variants described here cause iSMA. GARS1 variants have been previously associated with Charcot-Marie-Tooth disease (CMT2D) and distal SMA type V (dSMAV). Our findings expand the allelic heterogeneity of GARS-associated disease and support that severe early-onset SMA can be caused by variants in this gene. Distinguishing the SMA phenotype caused by SMN1 variants from that due to pathogenic variants in other genes such as GARS1 significantly alters approaches to treatment.


Assuntos
Predisposição Genética para Doença , Glicina-tRNA Ligase/genética , Atrofias Musculares Espinais da Infância/genética , Proteína 1 de Sobrevivência do Neurônio Motor/genética , Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/fisiopatologia , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/fisiopatologia , Mutação de Sentido Incorreto/genética , Fenótipo , Atrofias Musculares Espinais da Infância/diagnóstico por imagem , Atrofias Musculares Espinais da Infância/fisiopatologia
3.
Am J Med Genet A ; 179(10): 2138-2143, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31290619

RESUMO

Autosomal recessive COX4I1 deficiency has been previously reported in a single individual with a homozygous pathogenic variant in COX4I1, who presented with short stature, poor weight gain, dysmorphic features, and features of Fanconi anemia. COX4I1 encodes subunit 4, isoform 1 of cytochrome c oxidase. Cytochrome c oxidase is a respiratory chain enzyme that plays an important role in mitochondrial electron transport and reduces molecular oxygen to water leading to the formation of ATP. Defective production of cytochrome c oxidase leads to a variable phenotypic spectrum ranging from isolated myopathy to Leigh syndrome. Here, we describe two siblings, born to consanguineous parents, who presented with encephalopathy, developmental regression, hypotonia, pathognomonic brain imaging findings resembling Leigh-syndrome, and a novel homozygous variant on COX4I1, expanding the known clinical phenotype associated with pathogenic variants in COX4I1.


Assuntos
Alelos , Deficiência Intelectual/genética , Doença de Leigh/genética , Mutação/genética , Convulsões/genética , Criança , Pré-Escolar , Transporte de Elétrons , Complexo IV da Cadeia de Transporte de Elétrons/genética , Humanos , Deficiência Intelectual/diagnóstico por imagem , Doença de Leigh/diagnóstico por imagem , Masculino , Fenótipo , Convulsões/diagnóstico por imagem
4.
J Clin Lab Anal ; 33(1): e22645, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30105758

RESUMO

BACKGROUNDS: Rapid discrimination between Mycobacterium tuberculosis (MTB) and nontuberculous mycobacteria (NTM) is critical for patient treatment and to avoid unnecessary expenditure on infection control. Because real-time PCR assays distinguish MTB from NTM, we evaluated the performance of two real-time PCR assays (AdvanSure and PowerChek). METHODS: This study used 143 DNA samples from respiratory specimens which were collected based on routine PCR results using Anyplex kit. A total of 87 positive samples (65 MTB and 22 NTM) and 56 negative samples were collected consecutively during 6 months and 1 month, respectively. The diagnostic performance of PCR assays (AdvanSure and PowerChek) was retrospectively analyzed based on the results of conventional mycobacterial tests and routine PCR assay. RESULTS: Based on culture results, the sensitivities/specificities of AdvanSure and PowerChek were 90.7%/87.6% and 92.6%/85.4%, respectively, for MTB detection. For PCR-positive specimens, the quantification cycle (Cq) values of smear-negative specimens were higher than those of the smear-positive specimens (P < 0.001). As expected, the two PCR assays had the same sensitivities for NTM detection, viz. 90.0%, and their specificities were 99.2% and 98.4%, respectively. The overall agreement rate between the three PCR assays was 96.5% for MTB and 97.9% for NTM. CONCLUSION: The sensitivities of PCR assays in our study might be overestimated, because this study enrolled relatively lower number of PCR-negative samples which potentially missed PCR-negative but culture-positive specimens. However, the two real-time PCR assays for detecting MTB and NTM perform equally well in relative performance evaluation and their Cq values can be considered suitable for predicting smear-positive specimens.


Assuntos
Infecções por Mycobacterium/microbiologia , Mycobacterium/genética , Reação em Cadeia da Polimerase em Tempo Real/métodos , DNA Bacteriano/análise , DNA Bacteriano/genética , Humanos , Infecções por Mycobacterium/diagnóstico , Reação em Cadeia da Polimerase em Tempo Real/normas , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
5.
Biotechnol Bioeng ; 110(10): 2790-4, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23568786

RESUMO

Butyrate pathway was constructed in recombinant Escherichia coli using the genes from Clostridium acetobutylicum and Treponema denticola. However, the pathway constructed from exogenous enzymes did not efficiently convert carbon flux to butyrate. Three steps of the productivity enhancement were attempted in this study. First, pathway engineering to delete metabolic pathways to by-products successfully improved the butyrate production. Second, synthetic scaffold protein that spatially co-localizes enzymes was introduced to improve the efficiency of the heterologous pathway enzymes, resulting in threefold improvement in butyrate production. Finally, further optimizations of inducer concentrations and pH adjustment were tried. The final titer of butyrate was 4.3 and 7.2 g/L under batch and fed-batch cultivation, respectively. This study demonstrated the importance of synthetic scaffold protein as a useful tool for optimization of heterologous butyrate pathway in E. coli.


Assuntos
Butiratos , Escherichia coli , Engenharia Metabólica/métodos , Redes e Vias Metabólicas , Biologia Sintética/métodos , Acetatos/análise , Acetatos/metabolismo , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Butiratos/análise , Butiratos/metabolismo , Clostridium acetobutylicum/enzimologia , Clostridium acetobutylicum/genética , Escherichia coli/genética , Escherichia coli/metabolismo , Genes Bacterianos , Glucose/análise , Glucose/metabolismo , Redes e Vias Metabólicas/genética , Redes e Vias Metabólicas/fisiologia , Treponema denticola/enzimologia , Treponema denticola/genética
6.
Biomed Res Int ; 2022: 5884974, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35155676

RESUMO

This study evaluated the effects of multiple mouthwashes on the cellular viability or the morphology of preosteoblasts. Mouse calvarial osteoblast-like cells were cultured and treated with mouthwashes of (1) benzydamine hydrochloride; (2) cetylpyridinium chloride and benzalkonium chloride; (3) methyl salicylate, menthol, eucalyptol, and thymol; and (4) sodium fluoride, xylitol, and chitosan. The treatment times were 30 seconds, 90 seconds, and 270 seconds. Cell morphology was evaluated with a microscope, and the viability of the treated cells was analyzed quantitatively using a commercially available kit. The untreated control group exhibited well-stretched fibroblast-like morphology. Treatment with mouthwash resulted in morphological changes in all groups. Treatment with sodium fluoride resulted in more noticeable changes. Treatment with mouthwash for 30 seconds produced a significant decrease in cell viability. An increase in time to 90 and 270 seconds did not produce additional noticeable changes. To conclude, commercially available mouthwashes created changes in cell morphology and decreased the cell viability of osteoblast-like cells irrespective of ingredients and treatment time.


Assuntos
Sobrevivência Celular/efeitos dos fármacos , Antissépticos Bucais/farmacologia , Osteoblastos/efeitos dos fármacos , Animais , Células Cultivadas , Camundongos , Antissépticos Bucais/química , Fatores de Tempo
7.
Materials (Basel) ; 15(15)2022 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-35955229

RESUMO

The aim of this study is to compare two low-temperature sintered anorganic bovine bone materials (ABBMs), Bio-Oss (Geistlich, Wolhusen, Switzerland) and A-Oss (Osstem, Seoul, Korea), for GBR in dehiscence defects. A single implant was placed simultaneously with GBR in the buccal or bucco-proximal osseous defect by double-layering of inner allograft and outer ABBM, covered by a preformed ultrafine titanium mesh and an absorbable collagen membrane. Grafted volume changes were evaluated by cone-beam computed tomography, taken preoperatively (T0), immediately after implant surgery (T1), after re-entry surgery (T2), and after delivery of the final restoration (T3). The density of the regenerated bone was assessed by measuring the probing depth on the buccal mid-center of the mesh after removing the mesh at T2. Postoperative sequelae were also recorded. Grafted volume shrinkage of 46.0% (0.78 ± 0.37 cc) and 40.8% (0.79 ± 0.33 cc) in the Bio-Oss group (8 patients) and A-Oss group (8 patients), respectively, was observed at T3 (p < 0.001). There were no significant differences in grafted volume changes according to time periods or bone density between the two groups. Despite postoperative mesh exposure (3 patients), premature removal of these exposed meshes and additional grafting was not necessary, and all implants were functional over the 1-year follow-up period. Both ABBMs with titanium meshes showed no significant difference in the quantity and density of the regenerated bone after GBR for peri-implant defects.

8.
J Child Neurol ; 36(10): 841-852, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33900143

RESUMO

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.


Assuntos
Encefalopatias Metabólicas Congênitas/diagnóstico por imagem , Encefalopatias Metabólicas Congênitas/fisiopatologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Imageamento por Ressonância Magnética/métodos , Púrpura/diagnóstico por imagem , Púrpura/fisiopatologia , Acidente Vascular Cerebral/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Acidente Vascular Cerebral/fisiopatologia , Tempo
9.
J Korean Assoc Oral Maxillofac Surg ; 42(4): 209-14, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27595088

RESUMO

Traumatic bone cyst (TBC) occurs preferentially on the mandibular symphysis and body, but rarely on the mandibular condyle. When TBC occurs in the condylar area, it can usually be related with or misdiagnosed as a temporomandibular joint disorder. A 15-year-old female patient visited the Temporomandibular Joint Clinic with a 5-year history of pain and noise localized in the left temporomandibular joint. On imaging, a well demarked oval-shaped radiolucent lesion was observed on the left condyle head. The patient underwent cyst enucleation and repositioning of the bony window on the lateral cortex of the affected condyle head under the impression of subchondral cyst or TBC; however, no cystic membrane was found. The bone defect resolved and showed no recurrence on the serial radiographic postoperative follow-up for 43 months after surgery.

10.
J Endod ; 41(3): 417-9, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25476975

RESUMO

INTRODUCTION: We report a case of successful autotransplantation of a premolar impacted with a dentigerous cyst and transplanted with collagen plugs for initial support. METHODS: An 18-year-old man had an impacted premolar accompanied with a large dentigerous cyst. The tooth was extracted surgically and transplanted to an edentulous alveolar ridge, and a collagen sponge was inserted to ensure proper healing and initial support. Root canal treatment was performed 3 weeks after the surgery. RESULTS: The previous lesion was healed, and the transplanted tooth was functional without any pathologic signs. CONCLUSIONS: Our protocol provides a viable option for saving an impacted tooth in the case of cyst enucleation.


Assuntos
Dente Pré-Molar/transplante , Colágeno/farmacologia , Cisto Dentígero/complicações , Cisto Dentígero/terapia , Dente Impactado/complicações , Dente Impactado/terapia , Adolescente , Animais , Dente Pré-Molar/diagnóstico por imagem , Dente Pré-Molar/efeitos dos fármacos , Cisto Dentígero/diagnóstico por imagem , Cisto Dentígero/cirurgia , Seguimentos , Humanos , Masculino , Poríferos , Tomografia Computadorizada por Raios X , Dente Impactado/diagnóstico por imagem , Dente Impactado/cirurgia , Transplante Autólogo , Cicatrização
11.
Restor Dent Endod ; 39(1): 56-62, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24516831

RESUMO

A tooth with primary endodontic disease that demonstrates a periodontal defect might be extracted because of misdiagnosis as severe periodontal disease or a vertical root fracture. The aim of this case report was to demonstrate the long-term survival of endodontically treated teeth, which had been initially considered unsavable. With meticulous evaluation including the patient's dental history, clinical and radiographic examinations, teeth with primary endodontic lesions could be differentiated and saved after proper root canal treatment. Pain history, vitality test, and radiographic examinations, as well as a general periodontal condition check with periodontal probing on an affected tooth, might be the key methods to differentiate endodontic pathosis from that of periodontal disease.

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