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1.
Invest Radiol ; 56(3): 135-140, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-32773486

RESUMO

BACKGROUND: Chest radiography is often used to detect lung involvement in patients with suspected pneumonia. Chest radiography through glass walls of an isolation room is a technique that could be immensely useful in the current COVID-19 pandemic. PURPOSE: The purpose of this study was to ensure quality and radiation safety while acquiring portable chest radiographs through the glass doors of isolation rooms using an adult anthropomorphic thorax phantom. MATERIALS AND METHODS: Sixteen chest radiographs were acquired utilizing different exposure factors without glass, through the smart glass, and through regular glass. Images were scored independently by 2 radiologists for quantum mottle and sharpness of anatomical structures using a 5-point Likert scale. Statistically significant differences in Likert scale scores and entrance surface dose (ESD) between images acquired without glass and through the smart and regular glass were tested. Interreader reliability was also evaluated. RESULTS: Compared with conventional radiography, equal or higher mean image quality scores (mottle and anatomical structures) were observed with the smart glass using 100 kVp at 12 mAs and 20 mAs and 125 kVp at 6.3 mAs (100 kVp at 2 mAs and 125 kVp at 3.2 mAs were used for conventional radiography observations). There was no statistically significant difference in the Likert scale scores for image quality and the entrance surface dose for radiographs acquired without glass, through the smart glass, and through regular glass. Backscatter from the smart glass was minimal at a distance of 3 m and was recorded as zero at a distance of 4 m from the x-ray tube outside an isolation room. CONCLUSIONS: Good-quality portable chest radiographs can be obtained safely through the smart glass doors of the isolation room. However, this technique does result in minor backscatter radiation. Modifications in the exposure factors (such as increasing milliampere seconds) may be required to optimize image quality while using this technique.


Assuntos
COVID-19/prevenção & controle , Isolamento de Pacientes/métodos , Exposição à Radiação/prevenção & controle , Radiografia Torácica/métodos , Radiografia Torácica/normas , Adulto , Vidro , Humanos , Pandemias , Imagens de Fantasmas , Reprodutibilidade dos Testes , SARS-CoV-2
2.
Eur J Med Genet ; 63(3): 103756, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31513940

RESUMO

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with two children affected with AMC. First child had a severe AMC phenotype and died in infancy. Second child, currently 4-years-old, was ascertained at the age of 30 months with mild AMC phenotype with cognitive and speech delay. On whole exome sequencing, a novel biallelic sequence variant in initiation codon of LGI4 (leucine-rich glioma-inactivated 4) gene was identified in her. Real-Time PCR revealed 50% reduction in mRNA transcript levels in subject as compared to control which explains the milder phenotype. Till date, only four families with nine affected individuals with LGI4-related AMC have been reported. Except for one child surviving up to 6 years, all others were either terminated after prenatal diagnosis or succumbed in neonatal period. This study adds to mutation spectrum of LGI4 and reports the second case of mild AMC with extended phenotype. We review the existing phenotypic and genotypic information for the individuals with this condition and highlight the intrafamilial and interfamilial variability in these individuals.


Assuntos
Artrogripose/genética , Proteínas do Tecido Nervoso/genética , Alelos , Artrogripose/fisiopatologia , Pré-Escolar , Códon de Iniciação , Consanguinidade , Feminino , Estudos de Associação Genética , Genótipo , Heterozigoto , Humanos , Masculino , Mutação , Proteínas do Tecido Nervoso/sangue , Linhagem , Fenótipo , Sequenciamento do Exoma
3.
Am J Med Genet A ; 176(12): 2896-2900, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30548146

RESUMO

Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3-year- 6 months- old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene. NFIX gene, where most of the mutations in Malan syndrome are located. She did not have advanced bone age. The radiographs of long bones showed metaphyseal changes which were not reported previously. This study reports the first mutation proven case from India and highlights the overlap between MSS and Malan syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Estudos de Associação Genética , Genótipo , Fatores de Transcrição NFI/genética , Fenótipo , Displasia Septo-Óptica/diagnóstico , Displasia Septo-Óptica/genética , Alelos , Pré-Escolar , Análise Mutacional de DNA , Éxons , Fácies , Feminino , Estudos de Associação Genética/métodos , Humanos , Mutação , Radiografia
4.
Open Dent J ; 12: 714-722, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30369981

RESUMO

BACKGROUND: The aim of this school-based, cross-sectional survey was to investigate the prevalence and risk factors of permanent Molar Incisor Hypomineralization among 7-9 years old school children in Muradnagar. METHODS: This cross-sectional study was performed among 7-9 years old school children in Muradnagar. Estimated sample size was 992 in this study. Multistage cluster sampling technique was used in this study in which schools were the clusters which were selected randomly. The study proforma was divided into 2 parts, first part comprised of demographic status, socio-economic status, questionnaires on risk factors of Molar Incisor Hypomineralisation such as prenatal, perinatal and postnal history upto 3 years, feeding pattern, fluoride and other pollutants exposure history, dental history, history of trauma to teeth/face, family history of enamel defects which was asked to the mothers and filled by one examiner in a face to face interview. The second part comprised of recording format of clinical variables assessed by investigator to be recorded by the recording clerk. Molar incisor hypomineralisation were recorded using Modified Developmental Defect of Enamel index developed by Clarkson J.J. and O' Mullane D.M. in 1989 and dental caries by using Decayed Missing Filled Tooth index (World Health Organization Modification 1997) in which WHO probe was used for examination of dental caries as recommended by WHO in the Oral Health Surveys, Fourth edition; 1997 (Spanish version). Before 1997 modification dental explorer was used for the examination of dental caries. Chi square test, Pearson's Correlation test, Logistic Regression Analysis and Unpaired t-test were used for analysing the data. RESULTS: The overall prevalence rate of Molar incisor hypomineralisation was 21.4% in this study. Age, problems during pregnancy, normal delivery and childhood illness/ infections are the risk factors which have highest strength of association. CONCLUSION: In the present study Molar incisor hypomineralisation was found to affect 2 out of every 10 children examined which was higher than that observed in other studies on Indian children.

5.
Am J Nucl Med Mol Imaging ; 3(4): 317-25, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23901357

RESUMO

Focal increased lower thoracic spinal cord (18)F FDG uptake is not infrequently observed as a normal physiological finding and may be confused for spinal cord metastases. This study was conducted to evaluate a possible correlation between the lower thoracic (T11-T12) spinal uptake and lower limb movements/ambulatory status of the patients as a surrogate. The primary endpoint was to identify the possible cause(s) of the normal variant focal increased thoracic spinal cord (T11-T12) (18)F FDG activity and correlate it with the lower limb movements/ambulatory status of the patients. This was a retrospective analysis of PET-CT scans of 200 patients with solid and hematological malignancies. The focal relatively increased (18)F FDG activity in the lower thoracic spinal cord correlated strongly with the (18)F FDG intensity of the liver, bowel, C3-C5 cervical cord activity, weight of the patient and injected dose of (18)F FDG. With regard to the primary endpoint, no significant correlation was found between the ambulatory status of patients in any of the groups and thoracic spine SUVmax. This could be further assessed by performing dual studies in the same patient with and without moderate to excessive leg motion. Identifying this variant focal increased (18)F FDG activity can minimize errors of misdiagnosis and unnecessary further investigation.

6.
Protoplasma ; 249(3): 725-36, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21901307

RESUMO

In the present study, the effect of arsenate (AsV) exposure either alone or in combination with calcium (Ca) was investigated in callus cultures of Brassica juncea (L.) Czern. cv. Pusa Bold grown for a period up to 24 h. The AsV (250 µM) + Ca (10 mM) treatment resulted in a significantly higher level of As (464 µg g(-1) dry weight (DW)) than AsV without Ca (167 µg g(-1) DW) treatment at 24 h. Furthermore, AsV + Ca-treated calli had a higher percent of AsIII (24-47%) than calli subjected to AsV treatment (12-14%). Despite this, AsV + Ca-treated calli did not show any signs of hydrogen peroxide (H(2)O(2)) accumulation or cell death upon in vivo staining, while AsV-exposed calli had increased H(2)O(2), shrinkage of cytoplasmic contents, and cell death. Thus, AsV treatment induced oxidative stress, which in turn elicited a response of antioxidant enzymes and metabolites as compared with control and AsV + Ca treatment. The positive effects of Ca supplementation were also correlated to an increase in thiolic constituents', viz., cysteine, reduced glutathione, and glutathione reductase in AsV + Ca than in AsV treatment. An analysis of selected signaling related genes, e.g., mitogen-activated protein kinases (MAPK3 and MAPK6) and jasmonate ZIM-domain (JAZ3) suggested that AsV and AsV + Ca followed variable pathways to sense and signal the As stress. In AsV-alone treatment, jasmonate signaling was seemingly activated, while MAPK3 was not involved. In contrast, AsV + Ca treatment appeared to specifically inhibit jasmonate signaling and activate MAPK3. In conclusion, Ca supplementation may hold promise for achieving increased As accumulation in plants without compromising their tolerance.


Assuntos
Arseniatos/farmacologia , Cálcio/farmacologia , Mostardeira/efeitos dos fármacos , Poluentes do Solo/farmacologia , Antioxidantes/metabolismo , Arseniatos/metabolismo , Ascorbato Peroxidases/metabolismo , Cálcio/metabolismo , Catalase/metabolismo , Morte Celular/efeitos dos fármacos , Técnicas de Cultura , Cisteína/metabolismo , Citoplasma/efeitos dos fármacos , Citoplasma/metabolismo , Perfilação da Expressão Gênica , Glutationa/metabolismo , Glutationa Peroxidase/metabolismo , Glutationa Redutase/metabolismo , Peróxido de Hidrogênio/metabolismo , Mostardeira/citologia , Mostardeira/metabolismo , Oxirredução , Estresse Oxidativo/efeitos dos fármacos , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Prolina/metabolismo , Transdução de Sinais , Poluentes do Solo/metabolismo , Superóxido Dismutase/metabolismo
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