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1.
Pediatr Surg Int ; 40(1): 114, 2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38683501

RESUMO

INTRODUCTION: Spinal dysraphism is the most frequent cause of neurogenic bladder. Urodynamic study (UDS) is an important component of the follow-up of a child with neurogenic bladder. However, it suffers from a lack of widespread availability and is further hampered by technical difficulties and difficulty in its interpretation in children. A neurogenic bladder often appears vertically elongated; only limited and sparse literature is available regarding objectively defining the bladder shape and the urodynamic parameters in the cohort. OBJECTIVES: This study aimed to investigate the usefulness of the bladder's height-to-width ratio (HWR) on cystogram as a screening tool for identifying "non-physiological" bladder pressures in children with spinal dysraphism. A prospective study was undertaken to evaluate children operated for spinal dysraphism. Cystogram, ultrasonography and UDS evaluation were performed. HWR was calculated by the ratio of the maximum height to the maximum bladder width at maximum cystometric capacity (MCC), where MCC was calculated using standard Koff's formula, given by (age in years + 2) *30 ml in children more than one year and weight *7 ml for infants. The children were categorised into groups based on maximum detrusor pressure (MDP) into two groups (MDP ≥ 30 cmH2O and MDP < 30 cmH2O). A receiver-operative characteristic curve was constructed to analyse the sensitivity and specificity of HWR in predicting the MDP. RESULTS: A total of 53 children, operated for spinal dysraphism, met the study criteria during the study period, from March 2021 to September 2022. The median age of children was 4 years (IQR-3-5.5 years). The HWR ratio was compared between the two groups and was significantly higher for the non-physiological pressure bladders than for physiological pressure bladders (mean of 1.55 vs 1.26, p = 0.001). On evaluating the sensitivity and specificity of HWR for discerning children with non-physiological bladder pressures were 87.5% and 48.28%, respectively. The area under the curve (AUC) was 0.781, with a cut-off value of 1.3. DISCUSSION: We attempted to evaluate the HWR based on bladder shape objectively. We demonstrated a moderate correlation between the bladder shape and the bladder pressures. An HWR of 1.3 or higher could be significant for identifying a non-physiological bladder storage pressure. CONCLUSION: The height to width ratio of the bladder on cystogram is a useful tool as a surrogate marker for non-physiological storage pressures in bladders of children with spinal dysraphism.


Assuntos
Disrafismo Espinal , Bexiga Urinaria Neurogênica , Bexiga Urinária , Urodinâmica , Humanos , Estudos Prospectivos , Bexiga Urinária/fisiopatologia , Bexiga Urinária/diagnóstico por imagem , Feminino , Pré-Escolar , Masculino , Urodinâmica/fisiologia , Disrafismo Espinal/fisiopatologia , Disrafismo Espinal/complicações , Disrafismo Espinal/diagnóstico por imagem , Criança , Bexiga Urinaria Neurogênica/fisiopatologia , Bexiga Urinaria Neurogênica/etiologia , Lactente , Cistografia/métodos , Ultrassonografia/métodos , Pressão
2.
Int J Biometeorol ; 67(3): 485-501, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36652001

RESUMO

Despite a significant increasing trend in historical food grain production (FGP) in India, deficient Indian summer monsoon rainfall (ISMR) often causes a reduction in FGP. The present study was carried out to understand temporal and spatial variations in deficient rainfall (drought) and their impact on national and regional FGP of India. Long-term (1901-2020) percentage departure in rainfall and drought areas over the country showed nonsignificant and significant trends, respectively. Subdivisional rainfall showed significant decreasing and increasing trends in 4 and 5 subdivisions, respectively. Drought years of high frequency (once in 3-4 years) and 4 to 5 consecutive drought years (once in 120 years) occurred in northwest and western subdivisions of India. Departure in de-trended production of All India Kharif food grains from its normal (DDP) showed significant quadratic relationship with departure in ISMR from its normal (DRF). Besides the quadratic equation, another multiple regression model taking de-trended crop area, DRF, and drought area as predictor variables was developed for predicting DDP. Both these models, with high R2 (0.8-0.88) between observed and predicted data and low RMSE (2.6-2.7%), can be employed for advanced estimation of DDP of the country and for taking country-level policy decisions by the Indian Government. For the first time, models were formulated to estimate state-wise departure in FGP (DP). In these models, novel indices viz., (i) rainfall departure and irrigation index (RDII) and (ii) physical and socio-economic index (PSEI), were used as predictor variables. These models, with R2 (0.71-0.75) and RMSE of 11.8-14.2(< SD of observed data), hold promise for advance estimation of production loss in states, useful for regional-level planning by the Government of India, and testing them in other countries.


Assuntos
Monitoramento Ambiental , Chuva , Estações do Ano , Grão Comestível , Índia
3.
J Environ Manage ; 338: 117761, 2023 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-37030142

RESUMO

Decreasing greenhouse gas (GHG) emissions and enhancing soil carbon (C) sequestration in cropland are necessary to achieve carbon neutrality at national scale. The major objective of this study is to quantify the GHG mitigation potential of adopted climate resilient (CR) practices in CR villages using Ex-ACT tool developed by Food and Agriculture Organization (FAO). Intensively cultivated area of Punjab and Haryana was selected for carrying out this study. In both the states, villages were selected by considering the climate for past 30 years. In the selected villages, a set of CR practices were implemented in annuals, perennials, irrigated rice, fertilizer use, land use change and livestock and quantified the GHG mitigation potential in these villages for next twenty years. The tool predicted that the CR practices adopted were successful in enhancing the overall sink (carbon balance) in all the study villages. The villages of Punjab had recorded higher mitigation potential as compared to the villages of Haryana. The overall sink potential in these villages ranged from -354 to -38309 Mg CO2-eq. The change in sink potential varied from 3.16 to 112% with lowest in Radauri and highest in Badhauchhi kalan village. The sink potential got doubled in Badhauchhi kalan village due to stopping rice straw burning and increase in area under perennials by 25%. The source potential varied from 6.33 to -7.44% across the study villages. Even with the implementation of NICRA, there was increase in source by 5.58 and 6.33% in Killi Nihal Singh Wala and Radauri due to irrigated rice, land use change and livestock. Majorly, rice straw burning was seen in most of the study villages, yet, with proper residue management and adoption of CR practices (mainly intermittent flooding) in rice cultivation resulted in emissions reduction up to 5-26% with enhanced productivity up to 15-18%, which can be considered for scaling up. Fertilizer management reduced the emissions by average of 13% across the study villages. Farm gate emission intensity per ton of milk and rice recorded highest emission intensity compared to annuals and perennials suggesting strict implementation of CR practices in rice cultivation and livestock sector. Implementation and scaling up of CR practices could potentially reduce the emissions and make the village C negative in intensive rice-wheat production system.


Assuntos
Gases de Efeito Estufa , Oryza , Efeito Estufa , Carbono/análise , Fertilizantes , Agricultura/métodos , Solo/química
4.
Med J Armed Forces India ; 79(Suppl 1): S189-S195, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38144611

RESUMO

Background: Power Doppler ultrasound (PDUS) is an established non-invasive modalities for quantification of inflammation, which has a bearing on the assessment of disease activity in rheumatoid arthritis (RA). However, PDUS has several disadvantages including cost of equipment, steep learning curve and inter-observer variability. Thermal imaging has emerged as a simple, powerful tool for mapping the heat distribution pattern and has the potential to document and quantify disease activity in RA. The objective was to study the thermal imaging pattern of inflamed knee joints in cases of RA and its correlation with PDUS. Methods: This pilot case-control study was carried out at the rheumatology centre in India including 100 subjects (50 controls and 50 RA patients). All participants underwent thermal imaging and PDUS for the knee joints. The mean temperatures in area of interest in knee, thigh and knee-thigh differential were analysed in comparison with PDUS findings. Results: RA subjects had significantly higher mean knee temperature and mean knee-thigh temperature differential compared with controls (p value < 0.00001). PDUS documented inflammation strongly correlated with knee-thigh temperature differential. Conclusion: There was a statistically significant difference in mean knee temperature as well as mean knee-thigh temperature differential of inflamed versus control knees. Thermal imaging has the potential to become simple, objective, cost-effective and reliable tool for diagnosis and assessment of disease activity in inflammatory arthritis.

5.
Field Crops Res ; 284: 108577, 2022 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-35924187

RESUMO

Weeds are one of the key threats in sustaining the productivity of the rice-wheat cropping system in the Indo-Gangetic Plains. The development of sound integrated weed management technologies requires knowledge of mechanisms that influence weed flora composition and weed seedbank dynamics. A long-term study was initiated in 2015 at Patna, Bihar, India to evaluate the effect of seven tillage and crop establishment methods on weed density, weed seedbank composition, and crop productivity in rice-wheat-mungbean rotation. All the treatments included zero-till mungbean after wheat. Tillage and crop establishment methods had differential effects on weed and weed seedbank composition. In rice, zero-till direct-seeded rice recorded 62% lower emergence of Cyperus iria, 82-90% of Echinochloa colona, and 81-83% of total weeds compared to tilled systems, but the system of rice and wheat intensification favoured E. colona. In wheat, the system of wheat intensification favoured the Phalaris minor and Solanum nigrum. Zero-till rice and wheat reduced the seedbank of Trianthema portulacastrum by 95%, and total weed seedbank by 62% compared to the system of rice and wheat intensification. Nearly, 72% of C. iria seeds, 62% of grasses, and 64% of broad-leaved weeds were in 0-15 cm soil layer. Zero-till direct-seeded rice produced a 13% lower rice grain yield than conventional puddled transplanted rice. Compared to the system of wheat intensification, zero-till wheat under triple zero-till systems produced an 11.5% higher grain yield. Managing weed seedbank is a long-term endeavour. The present study revealed that tillage and crop establishment methods influence weed density and diversity. Under zero-till rice-wheat system, rice yield decreases marginally, but the system productivity maintains due to improvement in succeeding wheat yield. This system is also helpful in reducing the weed flora density and soil weed seedbank. Regular monitoring and management of emerging pests such as armyworm (Mythimna separata) are, however, required. The study suggests that the adoption of triple zero-tillage can be a viable option for reducing the weed density and weed seedbank concurrently increasing the system productivity of the rice-wheat-mungbean cropping system in eastern Indo-Gangetic Plains.

6.
Field Crops Res ; 267: 108164, 2021 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-34140753

RESUMO

In the eastern Indo-Gangetic Plains (EIGP), conventional rice-wheat system has led to a decline in productivity, input-use efficiency, and profitability. To address these, a four-year field study was conducted to evaluate the performance of tillage and crop establishment (TCE) methods in rice-wheat-greengram rotation. The treatments included: 1) random puddled transplanted rice (RPTR) - conventional-till broadcast wheat (BCW) - zero-till greengram (ZTG); 2) line PTR (LPTR) - conventional-till drill sown wheat (CTW) - ZTG; 3) machine transplanted rice in puddled soil (CTMTR) - zero tillage wheat (ZTW) - ZTG; 4) machine transplanted rice in zero-till wet soil (ZTMTR) - ZTW - ZTG; 5) system of rice intensification (SRI) - system of wheat intensification (SWI) - ZTG; 6) direct-seeded rice (DSR) - ZTW - ZTG; and 7) zero-till DSR - ZTW - ZTG. During the initial two years, conventional rice system (PTR) recorded a 16.2 % higher rice grain yield than DSR system. Whereas in the fourth year, the rice yields under DSR and PTR were comparable. As compared to SRI/SWI, the average wheat yield in ZT system was significantly high, whereas in rice, SRI/SWI system was comparable with CT system. ZTW after non-puddled rice was at par to CTW after PTR. The ZT wheat produced 4.6 % more yield than CT system. DSR production system consumed 6.8 % less water compared to transplanted system. On the system basis, 10.8 % higher net returns were recorded with CA-based system compared to conventional system. The system energy productivity under CA-based production system was 14-36 % higher than PTR-based systems. CA-based system also led to 8-10 % lower global warming potential (GWP) than conventional methods. The current study indicated that as compared to conventional system, a significant gain in productivity, profitability and energy-use efficiency, and reduction in the environmental mitigation are possible with emerging alternative TCE methods. Long-term expansion and further refinement of these technologies in local areas need to be explored for the second green revolution.

7.
Sensors (Basel) ; 20(20)2020 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-33080785

RESUMO

The COronaVIrus Disease (COVID-19) is a newly emerging viral disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Rapid increase in the number of COVID-19 cases worldwide led the WHO to declare a pandemic within a few months after the first case of infection. Due to the lack of a prophylactic measure to control the virus infection and spread, early diagnosis and quarantining of infected as well as the asymptomatic individuals are necessary for the containment of this pandemic. However, the current methods for SARS-CoV-2 diagnosis are expensive and time consuming, although some promising and inexpensive technologies are becoming available for emergency use. In this work, we report the synthesis of a cheap, yet highly sensitive, cobalt-functionalized TiO2 nanotubes (Co-TNTs)-based electrochemical sensor for rapid detection of SARS-CoV-2 through sensing the spike (receptor binding domain (RBD)) present on the surface of the virus. A simple, low-cost, and one-step electrochemical anodization route was used for synthesizing TNTs, followed by an incipient wetting method for cobalt functionalization of the TNTs platform, which was connected to a potentiostat for data collection. This sensor specifically detected the S-RBD protein of SARS-CoV-2 even at very low concentration (range of 14 to 1400 nM (nano molar)). Additionally, our sensor showed a linear response in the detection of viral protein over the concentration range. Thus, our Co-TNT sensor is highly effective in detecting SARS-CoV-2 S-RBD protein in approximately 30 s, which can be explored for developing a point of care diagnostics for rapid detection of SARS-CoV-2 in nasal secretions and saliva samples.


Assuntos
Betacoronavirus/metabolismo , Técnicas Biossensoriais/métodos , Nanotubos/química , Glicoproteína da Espícula de Coronavírus/análise , Titânio/química , Betacoronavirus/isolamento & purificação , COVID-19 , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/virologia , Técnicas Eletroquímicas , Humanos , Limite de Detecção , Pandemias , Pneumonia Viral/diagnóstico , Pneumonia Viral/virologia , Sistemas Automatizados de Assistência Junto ao Leito , Domínios Proteicos , SARS-CoV-2 , Glicoproteína da Espícula de Coronavírus/química
8.
J Therm Biol ; 94: 102749, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33292990

RESUMO

Multi-model ensemble of Maximum (Tmax) and Minimum (Tmin) temperature data of four Representative Concentration Pathways viz., RCP 2.6, RCP 4.5, RCP 6.0 and RCP 8.5 of Coupled Model Intercomparison Project 5 (CMIP5) models were generated for ten major groundnut growing locations of the India to predict the number of generations of Spodoptera litura (Fab.) using Growing Degree Days approach during three future climate viz., Near (NF), Distant (DF) and Very Distant (VDF) periods and were compared over 1976-2005 baseline period (BL). Projections indicate significant increase in Tmax (0.7-4.7 °C) and Tmin (0.7-5.1 °C) in NF, DF and VDF periods under the four RCP scenarios at the ten groundnut growing locations. Higher percent increase of the number of generations of S. litura was predicted to occur in VDF (6-38%) over baseline, followed by DF (5-22%) and NF (4-9%) periods with reduction of generation time (5-26%) across the four RCP scenarios. Reduction of crop duration was higher (12-22 days) in long duration groundnut than in medium and short duration groundnut. Decrease in crop duration was higher in VDF (12.1-20.8 days) than DF (8.26-13.15 days) and NF (4.46-6.15 days) climate change periods under RCP 8.5 scenario. Increase in number of generations of S. litura was predicted even with altered crop duration of groundnut. Among locations, more number of generations of S. litura with reduced generation time are likely at Vridhachalam and Tirupathi locations. Geographical location (74-77%) and climate period (15-19%), together explained over 90 percent of the total variation in the number of generations and generation time of S. litura. These findings suggest that the incidence of S. litura on groundnut could be higher in future.


Assuntos
Arachis/parasitologia , Mudança Climática , Interações Hospedeiro-Parasita , Modelos Teóricos , Spodoptera/fisiologia , Animais , Temperatura
9.
J Anaesthesiol Clin Pharmacol ; 36(Suppl 1): S62-S74, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33100649

RESUMO

BACKGROUND AND AIMS: The coronavirus disease 2019 (COVID-19) is spreading at an unprecedented speed. Lack of resources to test every patient scheduled for surgery and false negative test results contribute to considerable stress to anesthesiologists, along with health risks to both caregivers and other patients. The study aimed to develop an early warning screening tool to rapidly detect 'highly suspect' among the patients scheduled for surgery. METHODS: Review of literature was conducted using terms 'coronavirus' OR 'nCoV 2019' OR 'SARS-CoV-2' OR 'COVID-19' AND 'clinical characteristics' in PUBMED and MedRxiv. Suitable articles were analysed for symptoms and investigations commonly found in COVID-19 patients. Additionally, COVID-19 patient's symptomatology and investigation profiles were obtained through a survey from 20 COVID-19 facilities in India. Based on literature evidence and the survey information, an Early Warning Scoring System was developed. RESULTS: Literature search yielded 3737 publications, of which 195 were considered relevant. Of these 195 studies, those already included in the meta-analyses were not considered for independent assessment. Based on the combined data from meta-analyses and survey, risk factors of COVID-19 disease identified were as follows: history of exposure, fever, cough, myalgias, lymphocytopaenia, elevated C-reactive protein (CRP)/lactate dehydrogenase (LDH) and radiographic infiltrates. CONCLUSION: Development of this Early Warning Scoring System for preoperative screening of patients may help in identifying 'highly suspect' COVID-19 patients, alerting the physician and other healthcare workers on the need for adequate personal protection and also to implement necessary measures to prevent cross infection and contamination during the perioperative period.

11.
J Environ Manage ; 232: 236-242, 2019 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-30476685

RESUMO

The investigation reports the application of biogenic jarosite, an iron hydroxy sulfate mineral in Fenton's Oxidation process. Ametryn, a herbicide detrimental to aquatic life and also to human is treated by Fenton's oxidation process using synthesized iron mineral, jarosite. The jarosite synthesis was carried out by using an isolated Acidithiobacillus ferrooxidans bacterial strain with ferrous as an iron supplement. The isolated strain was characterized by molecular techniques and biooxidation activity to ferrous to ferric iron was checked. On Fenton's treatment ametryn degradation upto 84.9% and COD removal to the extent of 56.1% was observed within 2 h of treatment and the reaction follows the pseudo first order kinetics with the curve best fit. The slight increase in kinetic rate constant on jarosite loading rate increase from 0.1 g/L to 0.5 g/L with H2O2 dosage of 100 mg/L confirms that jarosite has a catalytic role in the removal of ametryn. Mass spectroscopy analysis of treated synthetic ametryn solution at various intervals reveal the degradation follows dealkylation and hydroxylation pathway with the formation of three major intermediate compounds discussed here.


Assuntos
Acidithiobacillus , Peróxido de Hidrogênio , Ferro , Oxirredução , Triazinas
12.
Clin Genet ; 91(2): 302-312, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-26970254

RESUMO

Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) in both sexes and primary ovarian insufficiency in 46, XX karyotype females. Biallelic variants in five genes are reported to be causative: HSD17B4, HARS2, LARS2, CLPP and C10orf2. Here we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2. The proband from each family was whole exome sequenced and variants confirmed by Sanger sequencing. A female was compound heterozygous for a known, p.(Gly16Ser) and novel, p.(Val82Phe) variant in D-bifunctional protein (HSD17B4). A family was homozygous for mitochondrial leucyl aminocyl tRNA synthetase (mtLeuRS) (LARS2) p.(Thr522Asn), previously associated with Perrault syndrome. A further family was compound heterozygous for mtLeuRS, p.(Thr522Asn) and a novel variant, p.(Met117Ile). Affected individuals with LARS2 variants had low frequency SNHL, a feature previously described in Perrault syndrome. A female with significant neurological disability was compound heterozygous for p.(Arg323Gln) and p.(Asn399Ser) variants in Twinkle (C10orf2). A male was homozygous for a novel variant in CLPP, p.(Cys144Arg). In three families there were no putative pathogenic variants in these genes confirming additional disease-causing genes remain unidentified. We have expanded the spectrum of disease-causing variants associated with Perrault syndrome.


Assuntos
Aminoacil-tRNA Sintetases/genética , DNA Helicases/genética , Endopeptidase Clp/genética , Disgenesia Gonadal 46 XX/genética , Perda Auditiva Neurossensorial/genética , Proteínas Mitocondriais/genética , Proteína Multifuncional do Peroxissomo-2/genética , Exoma/genética , Feminino , Genótipo , Disgenesia Gonadal 46 XX/patologia , Perda Auditiva Neurossensorial/patologia , Homozigoto , Humanos , Masculino , Mutação , Linhagem , Fenótipo , Insuficiência Ovariana Primária/genética , Insuficiência Ovariana Primária/fisiopatologia
14.
Tech Coloproctol ; 21(8): 667-671, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28871416

RESUMO

BACKGROUND: Robotic ventral mesh rectopexy (RVMR) is an appealing approach for the treatment of rectal prolapse and other conditions. The aim of this study was to evaluate the outcomes of RVMR for rectal prolapse. METHODS: We performed a retrospective chart review for patients who underwent RVMR for rectal prolapse at our institution between July 2012 and May 2016. Any patient who underwent RVMR during this time frame was included in our analysis. Any cases involving colorectal resection or other rectopexy techniques were excluded. RESULTS: Of the 24 patients who underwent RVMR, 95.8% of patients were female. Median age was 67.5 years old (IQR 51.5-73.3), and 79.2% of patients were American Society of Anesthesiologists class III or IV. Median operative time was 191 min (IQR 164.3-242.5), and median length of stay was 3 days (IQR 2-3). There were no conversions, RVMR-related complications or mortality. Patients were followed for a median of 3.8 (IQR 1.2-15.9) months. Full-thickness recurrence occurred in 3 (12.4%) patients. Rates of fecal incontinence improved after surgery (62.5 vs. 41.5%, respectively) as did constipation (45.8 vs. 33.3%, respectively). No patients reported worsening symptoms postoperatively. Only one (4.2%) patient reported de novo constipation postoperatively. CONCLUSIONS: RVMR is a feasible, safe and effective option for the treatment of rectal prolapse, with low short-term morbidity and mortality. Multicenter and long-term studies are needed to better assess the benefits of this procedure.


Assuntos
Prolapso Retal/cirurgia , Procedimentos Cirúrgicos Robóticos/métodos , Telas Cirúrgicas , Idoso , Constipação Intestinal/etiologia , Incontinência Fecal/etiologia , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Prolapso Retal/complicações , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
15.
Clin Genet ; 89(6): 724-7, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26757254

RESUMO

Lissencephaly is a phenotypically and genetically heterogeneous group of cortical brain malformations due to abnormal neuronal migration. The identification of many causative genes has increased the understanding of normal brain development. A consanguineous family was ascertained with three siblings affected by a severe prenatal neurodevelopmental disorder characterised by fronto-parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly. Autozygosity mapping and exome sequencing identified a homozygous novel single base pair deletion, c.1197delT in DMRTA2, predicted to result in a frameshift variant p.(Pro400Leufs*33). DMRTA2 encodes doublesex and mab-3-related transcription factor a2, a transcription factor key to the development of the dorsal telencephalon. Data from murine and zebrafish knockout models are consistent with the variant of DMTRA2 (DMRT5) as responsible for the cortical brain phenotype. Our study suggests that loss of function of DMRTA2 leads to a novel disorder of cortical development.


Assuntos
Córtex Cerebral/anormalidades , Predisposição Genética para Doença/genética , Lisencefalia/genética , Mutação , Animais , Sequência de Bases , Consanguinidade , Modelos Animais de Doenças , Exoma/genética , Saúde da Família , Feminino , Humanos , Masculino , Camundongos , Linhagem , Análise de Sequência de DNA/métodos , Irmãos , Fatores de Transcrição , Xenopus/genética , Peixe-Zebra/genética
16.
Crop Prot ; 89: 223-230, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27812236

RESUMO

A series of experiments was set up to examine the effects of nitrogen on rice (Oryza sativa L.) resistance against Nilaparvata lugens (Stål) and Sogatella furcifera (Horváth). Egg laying by N. lugens was reduced on the indica variety IR60. Nymph biomass (N. lugens and S. furcifera) was also lower on IR60: this was associated with low honeydew production and a high proportion of xylem-derived honeydew in N. lugens but not in S. furcifera. Nitrogen increased egg-laying by S. furcifera and increased N. lugens nymph biomass on all varieties tested. Oviposition and egg mortality in both planthopper species were examined on plants at 15, 30 and 45 days after sowing (DAS). Sogatella furcifera laid more eggs on plants at 15 DAS, but laid few eggs during darkness; N. lugens continued to lay eggs on older rice plants (30 DAS) and during darkness. Egg mortality was high on cv. Asiminori, highest at 45 DAS, and higher for S. furcifera than for N. lugens. Mortality of S. furcifera eggs was associated with lesions around the egg clusters. These were more common around clusters laid during the day and suggested induction by Asiminori of an ovicidal response. Egg mortality declined under higher soil nitrogen levels. Results are discussed in the light of improving rice resistance against planthoppers and reducing rates of planthopper adaptation to resistance genes.

17.
Clin Otolaryngol ; 41(5): 442-7, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26523400

RESUMO

OBJECTIVES: To evaluate treatment compliance to weekly concurrent chemoradiotherapy (CRT) in head and neck squamous cell carcinoma (HNSCC). STUDY DESIGN: Retrospective analysis. SETTING: Tertiary care hospital. MAIN OUTCOME MEASURES: Overall treatment time (OTT), acute radiation morbidity and treatment completion rate without prolongation of overall treatment time of more than 2 days. RESULTS: Three hundred and seventy-eight head and neck carcinoma patients treated with radical CRT with 70 Gy/35 fractions of radiotherapy with weekly cisplatin 40 mg/m(2) were included in the study. Median age was 52 years (range 22-77 years), oropharynx was most commonly (54%) involved site, and 55% were in stage IV disease. Majority (86%) of patients were able to complete cancer-directed therapy, median OTT was 52 days (46-140 days). Nineteen per cent of patients completed treatment without prolongation of OTT beyond 2 days and 68% of patients there completed treatment prolongation of OTT beyond 7 days. Nearly, sixty-six of the patients experienced grade II or higher acute radiation morbidities. CONCLUSIONS: Delivery of weekly low-dose concurrent CRT is safe and feasible. Two-thirds of the patients experienced treatment prolongation of more than 2 days and 14% could not complete treatment. Results within in the study suggest to a greater need to lay emphasis on continuity of a course of radical CRT for HNSCC.


Assuntos
Carcinoma de Células Escamosas/terapia , Quimiorradioterapia/métodos , Neoplasias de Cabeça e Pescoço/terapia , Adulto , Idoso , Carcinoma de Células Escamosas/patologia , Quimiorradioterapia/efeitos adversos , Cisplatino/administração & dosagem , Feminino , Fidelidade a Diretrizes , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Estudos Retrospectivos , Carcinoma de Células Escamosas de Cabeça e Pescoço , Resultado do Tratamento
18.
Haemophilia ; 21(5): 662-9, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25854144

RESUMO

Factor VIII (FVIII) mutations cause haemophilia A (HA), an X-linked recessive coagulation disorder. Over 1000 missense mutations in FVIII are known and they lead to variable clinical phenotypes (severe, moderate and mild). The exact molecular basis of this phenotypic heterogeneity by FVIII missense mutations is elusive to date. In this study, we aimed to identify the severity determinants that cause phenotypic heterogeneity of HA. We compiled and curated a data set of 766 missense mutations from the repertoire of missense mutations in FVIII. We analysed these mutations by computational programs (e.g. Swiss-PdbViewer) and different mutation analysis servers (e.g. SIFT, PROVEAN, CUPSAT, PolyPhen2, MutPred); and various sequence- and structure-based parameters were assessed for any significant distribution bias among different HA phenotypes. Our analyses suggest that 'mutations in evolutionary conserved residues', 'mutations in buried residues', mutation-induced 'steric clash' and 'surface electrostatic potential alteration' act as risk factors towards severe HA. We have developed a grading system for FVIII mutations combining the severity determinants, and the grading pattern correlates with HA phenotype. This study will help to correctly associate the HA phenotype with a mutation and aid early characterization of novel variants.


Assuntos
Simulação por Computador , Fator VIII/genética , Hemofilia A/genética , Hemofilia A/patologia , Mutação de Sentido Incorreto/genética , Substituição de Aminoácidos , Sequência Conservada , Fator VIII/química , Predisposição Genética para Doença , Humanos , Ligação de Hidrogênio , Estabilidade Proteica , Estrutura Terciária de Proteína , Software , Solventes , Eletricidade Estática
19.
Theor Appl Genet ; 127(1): 113-24, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24145853

RESUMO

KEY MESSAGE: We report here tagging and fine-mapping of gm3 gene, development of a functional marker for it and its use in marker-assisted selection. The recessive rice gall midge resistance gene, gm3 identified in the rice breeding line RP2068-18-3-5 confers resistance against five of the seven Indian biotypes of the Asian rice gall midge Orseolia oryzae. We report here tagging and fine-mapping of gm3 gene, development of a functional marker for it and demonstrated its use in marker-assisted selection (MAS). A mapping population consisting of 302 F10 recombinant inbred lines derived from the cross TN1 (susceptible)/RP2068-18-3-5, was screened against gall midge biotype 4 (GMB4) and analyzed with a set of 89 polymorphic SSR markers distributed uniformly across the rice genome. Two SSR markers, RM17480 and gm3SSR4, located on chromosome 4L displayed high degree of co-segregation with the trait phenotype and flanked the gene. In silico analysis of the genomic region spanning these two markers contained 62 putatively expressed genes, including a gene encoding an NB-ARC (NBS-LRR) domain containing protein. A fragment of this gene was amplified with the designed marker, NBcloning 0.9 Kb from the two susceptible TN1, Improved Samba Mahsuri (B95-1) and two resistant cultivars, RP 2068-18-3-5 and Phalguna (with Gm2 gene). The amplicons were observed to be polymorphic between the susceptible and resistant genotypes and hence were cloned and sequenced. A new primer, gm3del3, which was designed based on sequence polymorphism, amplified fragments with distinct size polymorphism among RP2068-18-3-5, Phalguna and TN1 and B95-1 and displayed no recombination in the entire mapping population. Expression of the candidate NB-ARC gene in the susceptible TN1 and the resistant RP2068-18-3-5 plants following infestation with GMB4 was analyzed, through real-time reverse transcription PCR. Results showed twofold enhanced expression in RP2068-18-3-5 plants, but not in TN1 plants, 120 h after infestation. Amino acid sequence and structure analysis of the proteins coded by different alleles of gm3 gene showed deletion of eight amino acids due to an early stop codon in RP2068-18-3-5 resulting in a change in the functional domain of the protein. The gm3del3 was used as a functional marker for introgression of gm3 gene into the genetic background of the elite bacterial blight resistant cultivar Improved Samba Mahsuri (B95-1) through MAS.


Assuntos
Oryza/genética , Proteínas de Plantas/genética , Sequência de Aminoácidos , Animais , Mapeamento Cromossômico , Dípteros , Estudos de Associação Genética , Dados de Sequência Molecular , Oryza/fisiologia , Controle Biológico de Vetores , Proteínas de Plantas/fisiologia , Alinhamento de Sequência
20.
Ir Med J ; 107(8): 246, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25282968

RESUMO

We have designed software that can "look" at recorded ultrasound sequences. We analyzed fifteen video sequences representing recorded ultrasound scans of nine fetuses. Our method requires a small amount of user labelled pixels for processing the first frame. These initialize GrowCut, a background removal algorithm, which was used for separating the fetus from its surrounding environment (segmentation). For each subsequent frame, user input is no longer necessary as some of the pixels will inherit labels from the previously processed frame. This results in our software's ability to track movement. Two sonographers rated the results of our computer's 'vision' on a scale from 1 (poor fit) to 10 (excellent fit). They assessed tracking accuracy for the entire video as well as segmentation accuracy (the ability to identify fetus from non-fetus) for every 100th processed frame. There was no appreciable deterioration in the software's ability to track the fetus over time.


Assuntos
Monitorização Fetal/métodos , Movimento Fetal/fisiologia , Processamento de Imagem Assistida por Computador/métodos , Gravação em Vídeo/métodos , Algoritmos , Feminino , Humanos , Gravidez , Software
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