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Patient and public involvement and engagement (PPIE) is essential for improved research outcomes and reduced research waste. To be effective, PPIE should provide opportunities for diverse groups to contribute to all research stages. However, UK ethnic minority communities remain underrepresented in research. This article describes strategies adopted in a public health research project that were effective in building trust and increasing inclusion of ethnic minority communities. The study team of researchers and PPIE partners reflects lessons learnt during the project and describe six main strategies that built meaningful levels of trust and inclusion: 1) early start to recruitment of PPIE partners; 2) relationship-focused engagement; 3) co-production and consultation activities; 4) open communication and iterative feedback; 5) co-production of project closure activities, and; 6) diverse research team. Meaningful outcomes for the community included the involvement of people from ethnic minorities as research participants and PPIE partners, community wellbeing, co-production of public health recommendations co-presented at the UK Houses of Parliament, and consortium-wide impact evidenced by the enrolment of 51 active PPIE partners. PPIE partners reflect on their research involvement, offering advice to researchers and encouraging people from ethnic minority communities to take part in research. An important message from PPIE partners is that involvement should not be restricted to projects specific to ethnic minorities but become a routine part of general population research, recognising ethnic minorities as an integral part of UK society. In conclusion, this article demonstrates that with appropriate strategies, inclusion and diversity can be achieved in public health research. We recommend researchers, practitioners and policy makers adopt these strategies when planning their public health projects.
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Saúde Pública , Confiança , Humanos , Reino Unido , Grupos Minoritários/estatística & dados numéricos , Minorias Étnicas e Raciais , Etnicidade/estatística & dados numéricos , Participação da Comunidade/métodos , Participação do Paciente , Pesquisa Participativa Baseada na ComunidadeRESUMO
OBJECTIVE: To optimize the patient dose and image quality through quality assurance (QA) of diagnostic x-ray equipment and to ensure compliance with international and national standards in x-ray specification parameters, the use of contactless and quick non-invasive instruments has gained importance. Considering the importance of equipment qualification and the intervention level for equipment management, it is vital to account for uncertainties in the measurement of parameters in diagnostic radiology. However, the limits and measurement uncertainties associated with the parameter measurement are not well established and many technical and scientific literature provide different tolerance values, either as absolute or in terms of percentage. METHODS AND MATERIALS: In this paper, the authors analyze non-invasive multi-parameter detector measurements with the aim to (i) improve the accuracy in measurement of x-ray parameters (kilovoltage, dose, and exposure time); (ii) estimate the uncertainty associated with such measurements; (iii) analyze the tolerance values prescribed by various professional and regulatory bodies and propose an improvised method of reporting the parameters. The approach adopted in this paper takes into account the uncertainties associated with traditional instruments and the subjectivity in the measurements. RESULTS: Estimated uncertainty for kV measurements in the range between 1.45 kV at 40 kV measurements and 4.88 kV at 150 kV measurements. The MU associated with the dose measurement is estimated to be 6.2% at 110 kVp, 100 mA, and 500 msec. Maximum MU estimated at 10 msec exposure time is 4.5% and with MU of 5% deviation added to 9.5%. CONCLUSIONS: The current practice of reporting the measured mean values deviation without considering the inherent measurement uncertainty may not be a correct quantification procedure in QA. This is evident from the case study that 3% addition to the measured kV, 6.2% addition in the measured dose, and 4.5% to the measured time accounts for measurement uncertainty.
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BACKGROUND: Spinal anaesthesia, the most common form of anaesthesia for caesarean section, leads to sympathetic blockade and profound maternal hypotension resulting in adverse maternal and neonatal outcomes. Hypotension, nausea and vomiting remain common but until the publication of the National Institute of Health and Care Excellence (NICE) 2021 guidance, no national guideline existed on how best to manage maternal hypotension following spinal anaesthesia for caesarean section. A 2017 international consensus statement recommended prophylactic vasopressor administration to maintain a systolic blood pressure of >90% of an accurate pre-spinal value, and to avoid a drop to <80% of this value. This survey aimed to assess regional adherence to these recommendations, the presence of local guidelines for management of hypotension during caesarean section under spinal anaesthesia, and the individual clinician's treatment thresholds for maternal hypotension and tachycardia. METHODS: The West Midlands Trainee-led Research in Anaesthesia and Intensive Care Network co-ordinated surveys of obstetric anaesthetic departments and consultant obstetric anaesthetists across 11 National Health Service Trusts in the Midlands, England. RESULTS: One-hundred-and-two consultant obstetric anaesthetists returned the survey and 73% of sites had a policy for vasopressor use; 91% used phenylephrine as the first-line drug but a wide range of recommended delivery methods was noted and target blood pressure was only listed in 50% of policies. Significant variation existed in both vasopressor delivery methods and target blood pressures. CONCLUSIONS: Although NICE has since recommended prophylactic phenylephrine infusion and a target blood pressure, the previous international consensus statement was not adhered to routinely.
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Anestesia Obstétrica , Raquianestesia , Cesárea , Hipotensão , Vasoconstritores , Humanos , Feminino , Gravidez , Adulto , Hipotensão/etiologia , Raquianestesia/efeitos adversos , Anestesia Obstétrica/efeitos adversos , Reino Unido , Inquéritos e Questionários , Vasoconstritores/administração & dosagem , Vasoconstritores/efeitos adversosRESUMO
With an objective to establish adult diagnostic reference levels in the practice of nuclear medicine (NM) in the state of Tamil Nadu (TN), data on the predominant NM procedures carried out in the state are analyzed. In this study, data on total NM diagnostic procedures during the years 2015-19 along with patient-specific diagnostic NM procedure data for the period April-June 2021 from all centers in Tamil Nadu are collected and analyzed using SPSS statistical software. Nine predominant types of NM scans are analyzed. Collective effective dose from NM scans and per capita dose for the TN population are estimated. The 75th percentile of the distribution and average administered activity (AAA) has been derived and local reference levels are reported. Based on the statistical analysis, it is observed that the whole-body positron emission tomography (PET), renal diethylenetriamine pentaacetate (DTPA) scan, bone methylene diphosphonate (MDP) scan, iodine-131 whole body scan, thyroid studies using Technetium per technetate, renal dimercaptosuccinic acid (DMSA), myocardial perfusion methoxyisobutyl isonitrile sestamibi (MIBI), mebrofenin, Galium-68 prostate-specific membrane antigen (PSMA) are the most common procedure covering >90% of the practices carried out. The collective effective dose is 410 man-Sv in the year 2019, leading to a mean effective dose of 0.006 mSv per capita of the TN state population. The 75th percentile of the distribution of AA is slightly higher than diagnostic reference level (DRL) as compared with Australian DRL (310 MBq). It is also observed that F-18 PET procedures are primarily responsible for most of the collective effective dose, local DRL is 316 MBq and it is important to establish national DRLs for NM diagnostic scans to optimize the NM examinations.
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Níveis de Referência de Diagnóstico , Medicina Nuclear , Masculino , Adulto , Humanos , Doses de Radiação , Índia , AustráliaRESUMO
BACKGROUND: The genetic risk associated with rheumatoid arthritis (RA) includes genes regulating DNA methylation, one of the hallmarks of epigenetic re-programing, as well as many T-cell genes, with a strong MHC association, pointing to immunogenetic mechanisms as disease triggers leading to chronicity. The aim of our study was to explore DNA methylation in early, drug-naïve RA patients, towards a better understanding of early events in pathogenesis. RESULT: Monocytes, naïve and memory CD4+ T-cells were sorted from 6 healthy controls and 10 RA patients. DNA methylation was assessed using a genome-wide Illumina 450K CpG promoter array. Differential methylation was confirmed using bisulfite sequencing for a specific gene promoter, ELISA for several cytokines and flow cytometry for cell surface markers. Differentially methylated (DM) CpGs were observed in 1047 genes in naïve CD4+ T-cells, 913 in memory cells and was minimal in monocytes with only 177 genes. Naive CD4+ T-cells were further investigated as presenting differential methylation in the promoter of > 500 genes associated with several disease-relevant pathways, including many cytokines and their receptors. We confirmed hypomethylation of a region of the TNF-alpha gene in early RA and differential expression of 3 cytokines (IL21, IL34 and RANKL). Using a bioinformatics package (DMRcate) and an in-house analysis based on differences in ß values, we established lists of DM genes between health and RA. Publicly available gene expression data were interrogated to confirm differential expression of over 70 DM genes. The lists of DM genes were further investigated based on a functional relationship database analysis, which pointed to an IL6/JAK1/STAT3 node, related to TNF-signalling and engagement in Th17 cell differentiation amongst many pathways. Five DM genes for cell surface markers (CD4, IL6R, IL2RA/CD25, CD62L, CXCR4) were investigated towards identifying subpopulations of CD4+ T-cells undergoing these modifications and pointed to a subset of naïve T-cells, with high levels of CD4, IL2R, and CXCR4, but reduction and loss of IL6R and CD62L, respectively. CONCLUSION: Our data provided novel conceptual advances in the understanding of early RA pathogenesis, with implications for early treatment and prevention.
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Artrite Reumatoide/genética , Metilação de DNA , Redes Reguladoras de Genes , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Artrite Reumatoide/imunologia , Linfócitos T CD4-Positivos/imunologia , Estudos de Casos e Controles , Ilhas de CpG , Feminino , Humanos , Masculino , Monócitos/química , Regiões Promotoras Genéticas , Análise de Sequência de DNA , Transdução de Sinais , Células Th17/químicaRESUMO
BACKGROUND: Literature on outcomes of arthroscopic Bankart repair at the intervening time intervals in traumatic recurrent dislocation of shoulder joint is limited. STUDY DESIGN: Case series. SUBJECTS AND METHODS: A prospective review of 30 shoulders, aged 20-40 years with clinically and magnetic resonance imaging established findings that were treated with primary arthroscopic Bankart repair and followed up for a minimum of 2 years. Outcomes were evaluated using Rowe score and University of California at Los Angeles (UCLA) scoring system. RESULTS: The mean age was 26.40 years. All patients had definite trauma history. Average number of dislocation was 13.77 + 18.435 (range: 3-100). Time duration from first dislocation to surgery was an average of 4.80 + 3.576 years. The average size of the lesion was approximately 31% of the glenoid circumference. The number of suture anchors used for fixation did not correlate significantly with any of the scores. The mean Rowe and UCLA scores were 94.16 ± 9.7 and 33.83 ± 3.32, respectively, at final follow-up. The average duration of hospital stay was 7 days. Of the 30 patients, 2 (6.66%) had dislocation events post-operatively. Returns to pre-injury level were available for 27 (90%) of 30 patients. Multivariate analysis of independent Variables: age; side and number of dislocations, time to surgery, duration of surgery, size of lesion, number of anchors, and concurrent Hill-Sachs lesion, shown to have no significant relationship to outcomes. CONCLUSION: Arthroscopic Bankart repair is an effective and safe technique for treating anterior glenohumeral instability in patients with recurrent traumatic shoulder dislocation.
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Artroplastia , Artroscopia , Lesões de Bankart/cirurgia , Luxação do Ombro/cirurgia , Lesões do Ombro/complicações , Adulto , Lesões de Bankart/complicações , Feminino , Humanos , Masculino , Estudos Prospectivos , Recidiva , Luxação do Ombro/etiologia , Âncoras de Sutura , Adulto JovemRESUMO
In recent past, the respiratory infection has emerged as a great challenge to the poultry farmers. Various pathogens including Avian pneumovirus (APV), Avian influenza virus (AIV), Infectious bronchitis virus (IBV) and Newcastle disease virus (NDV), Avibacterium paragallinarum, Ornithobacterium rhinotracheale (ORT), Mycoplasma synoviae (MS), Mycoplasma gallisepticum (MG) and Avian pathogenic Escherichia coli (APEC) are involved in the respiratory disease complex in birds [1], [2] (Bradbury, 1984; Roussan et al., 2008). Hence, respiratory disease complex is the most serious disease affecting to poultry and causes heavy economic losses in the poultry industry worldwide [3] (Murthy et al., 2008). In recent years, metagenomics is powerful analyzing tool for detection of pathogens directly from clinical samples without any prior knowledge of the organism in a given sample [4], [5] (Schuster, 2008; Pereira et al., 2010). High throughput Next-Generation-Sequencing technology was used for sequencing the isolated genomic DNA. These data provides an insight about taxonomic and functional status of microorganisms responsible for causing respiratory infection in broiler. The data of these metagenome are available in the BioSample Submission Portal as Bioproject PRJNA339659 and SRA accession number SRR5997823, SRR5992854, SRR6037376, SRR6024702, SRR6012248 and SRR6008913.
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Candida albicans is the most prevalent fungal pathogen in humans. It is the causative agent and most associated with serious fungal infection, accounting for more than 90% of cases. It is a most common cause of deep mycoses and vulvovaginal candidiasis. In the present study we found that methanolic extract of O. sanctum in combination of fluconazole shows higher zone of inhibition and lesser MIC values as compared to methanolic extract of leaves of O. sanctum or fluconazole when used alone. Synergistic antimicrobial activity was found when methanolic extract of leaves of O. sanctum was used in combination with fluconazole against C. albicans azole resistance strains isolated from catheter tip (CT) and high vaginal swab (HVS) (FIC≤0.5). Partial synergistic activity was observed against urine (U). Methanolic extract of stem of O. sanctum in combination with fluconazole gave indifferent antifungal results (FIC=1.0-4.0). Benzene extract of the leaf and stem of O. sanctum in combination with fluconazole showed indifferent antifungal results (FIC=1.0-4.0). Aqueous extract of leaves of O. sanctum in combination with fluconazole showed partial synergistic antimicrobial activity against catheter tip (CT) and high vaginal swab (HVS) and urine (U) (FIC=0.5-1.0). In the present study we evaluate the synergism of C. albicans against azole resistant clinical isolates. This study indicates clear evidence supporting the traditional use of O. sanctum in treating Candida infectious diseases.
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Antifúngicos/farmacologia , Candida albicans/efeitos dos fármacos , Farmacorresistência Fúngica , Fluconazol/farmacologia , Ocimum sanctum/química , Extratos Vegetais/farmacologia , Candidíase Vulvovaginal/tratamento farmacológico , Candidíase Vulvovaginal/microbiologia , Feminino , Humanos , Testes de Sensibilidade Microbiana , Folhas de Planta/químicaRESUMO
OBJECTIVES: Anticitrullinated protein antibody (ACPA)+ individuals with non-specific musculoskeletal symptoms are at risk of inflammatory arthritis (IA). This study aims to demonstrate the predictive value of T cell subset quantification for progression towards IA and compare it with previously identified clinical predictors of progression. METHODS: 103 ACPA+ individuals without clinical synovitis were observed 3-monthly for 12â months and then as clinically indicated. The end point was the development of IA. Naïve, regulatory T cells (Treg) and inflammation related cells (IRCs) were quantified by flow cytometry. Areas under the ROC curve (AUC) were calculated. Adjusted logistic regressions and Cox proportional hazards models for time to progression to IA were constructed. RESULTS: Compared with healthy controls (age adjusted where appropriate), ACPA+ individuals demonstrated reduced naïve (22.1% of subjects) and Treg (35.8%) frequencies and elevated IRC (29.5%). Of the 103 subjects, 48(46.6%) progressed. Individually, T cell subsets were weakly predictive (AUC between 0.63 and 0.66), although the presence of 2 T cell abnormalities had high specificity. Three models were compared: model-1 used T cell subsets only, model-2 used previously published clinical parameters, model-3 combined clinical data and T cell data. Model-3 performed the best (AUC 0.79 (95% CI 0.70 to 0.89)) compared with model-1 (0.75 (0.65 to 0.86)) and particularly with model-2 (0.62 (0.54 to 0.76)) demonstrating the added value of T cell subsets. Time to progression differed significantly between high-risk, moderate-risk and low-risk groups from model-3 (p=0.001, median 15.4 months, 25.8 months and 63.4â months, respectively). CONCLUSIONS: T cell subset dysregulation in ACPA+ individuals predates the onset of IA, predicts the risk and faster progression to IA, with added value over previously published clinical predictors of progression.
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Anticorpos/sangue , Artrite Reumatoide/etiologia , Peptídeos Cíclicos/sangue , Sinovite/sangue , Subpopulações de Linfócitos T/metabolismo , Adulto , Idoso , Anticorpos/imunologia , Artrite Reumatoide/imunologia , Biomarcadores/sangue , Estudos de Casos e Controles , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Peptídeos Cíclicos/imunologia , Valor Preditivo dos Testes , Modelos de Riscos Proporcionais , Sensibilidade e Especificidade , Sinovite/imunologia , Subpopulações de Linfócitos T/imunologia , Linfócitos T Reguladores/imunologia , Linfócitos T Reguladores/metabolismoRESUMO
AIM: The present study has been carried out to detect non-parasitic dermatoses in canines brought at the Nandini Veterinary Hospital, Surat. MATERIALS AND METHODS: The current investigation was carried out on skin scrapping, skin biopsy specimens, blood, and serum samples of 210 freshly registered cases of dogs with dermatological afflictions. Dogs found healthy on clinical examination were used as control animals (n=15). The incidence of non-parasitic dermatoses has been recorded as per age, breed, and sex of dogs. For bacterial isolation, the pus/exudates samples were collected from 40 cases of pyoderma and streaked onto brain-heart infusion agar while 13 skin scrapping samples were inoculated on Sabouraud's dextrose agar with chloramphenicol for isolation of fungi. The organisms were identified on the basis of gross and microscopic observation of cultural growth on media. The blood and sera samples were also collected to note alteration in hematology and biochemical parameters, respectively. Tissue samples from lesions were collected and subsequently preserved in 10% neutral buffered formalin for histopathology. RESULTS: Out of 210 cases of dermatoses, 60 cases were of non-parasitic dermatoses, i.e., 28.57%. Of these, bacterial skin infections (pyoderma) were found to be the predominant at 80.00%, followed by other non-parasitic dermatological disorders, i.e., 11.67% and fungal skin infection, i.e., 8.33%. The dogs belonging to age group 1-3 years showed greater susceptibility to non-parasitic dermatological conditions. Breed wise incidence of pyoderma was found more in the Pomeranian breed (20.83%), whereas fungal skin affections were found to be higher in mongrel breed (60.00% and 42.86%, respectively). Male dogs showed greater involvement in bacterial, fungal, and other non-parasitic dermatoses. Bacteriological culture examination of 40 pus swabs resulted in the growth of 39 bacterial isolates. Mycological culture of skin scrapings from 13 suspected cases of fungal dermatoses resulted in the recovery of five fungal isolates. Hematological and serum biochemical parameters revealed a significant difference in all cases of non-parasitic dermatoses.Histopathological study revealed characteristic changes like infiltration of neutrophils with perifolliculitis, hyperkeratosis, and rafts of acantholytic cells. Histochemical staining revealed purple or magenta color fungal elements. CONCLUSION: Based on current experiment it has been concluded that among non-parasitic dermatoses bacterial and fungal skin infections are the main ailments, followed by nutritional and other causes in adult and male dogs which can be diagnosed by cultural inoculation, microscopic examination of skin scrapings, and dermatohistopathology along with hematology and biochemistry.
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Internal herniation of small bowel accounts for about 1% of all the patients with intestinal obstruction. Fifty percent of the patients with paraduodenal hernia will have bowel obstruction. Left paraduodenal hernia resulting from abnormal rotation of the midgut during embryonic development is the most common form of congenital internal hernia. A case of a young male presenting with chronic abdominal pain due to left paraduodenal hernia is being reported. A correct preoperative diagnosis of left paraduodenal hernia was made on computerised tomography (CT), and the patient was managed by laparoscopic surgery. The role of imaging in preoperative diagnosis is being highlighted with a brief review of literature.
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Grain-size dependence of electronic transport and magnetoresistance (MR) properties of nanostructured La0.7Sr0.3MnO3 (LSMO) manganite thin films on LaAlO3 (100) single crystal substrates prepared using Chemical Solution Deposition (CSD) technique have been studied. The LSMO thin films were annealed at temperatures in the range of 700-1000 degrees C for different time intervals [6 h and 12 h] and crystallized as singlephase LSMO. Microstructural studies carried out using AFM show a marginal increase in the grain-size from 50 to 90 nm as the temperature was varied from 700 degrees C to 1000 degrees C respectively. It has been observed that the insulator-metal transition (T(p)) and MR depend on the grain size. In zero applied field, resistivity reduction is approximately 10(3) at 5 K for the films annealed at 700 degrees C [T(p) approximately 341 K] and 1000 degrees C [T(p) approximately 373 K]. MR versus H isotherms reveal that MR enhances in the vicinity of T(p) but decreases at low temperatures. The results obtained from the electronic and magnetotransport studies are in good agreement with the change in surface morphology of the films studied, which shows that the randomly distributed domains are composed of faceted grains. Synthesizing conditions, annealing temperature and time control the growth and alignment of grains into the domains, which cause better conduction at grain interface.
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AIMS: Bacillus anthracis is a genetically monomorphic bacterium with little diversity to be expected during an outbreak. This study used more rapidly evolving genetic markers on outbreak samples to ascertain genetic diversity. METHODS AND RESULTS: Forty-seven isolates from a B. anthracis outbreak during the summer of 2005 in South Dakota were analysed using single nucleotide polymorphisms (SNP) and multi-locus VNTR analysis (MLVA). Results indicated that all of the outbreak strains belonged to a single clonal lineage. However, analysis of four single nucleotide repeat (SNR) markers resolved these isolates into six distinct genotypes providing insights into disease transmission. CONCLUSIONS: Strain determination of unknown B. anthracis samples can be ascertained by SNP and MLVA markers. However, comparison of many samples obtained during an outbreak will require markers with higher rates of mutation to ascertain genetic diversity. SIGNIFICANCE AND IMPACT OF THE STUDY: SNR4 analysis allowed discrimination of closely related B. anthracis isolates and epidemiological tracking of the outbreak. When used in conjunction with other genotyping schemes that allow broad genetic relationships to be determined, SNR markers are powerful tools for detailed tracking of natural B. anthracis outbreaks and could also prove useful in forensic investigations.
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Antraz/veterinária , Bacillus anthracis/genética , Técnicas de Tipagem Bacteriana/métodos , Doenças dos Bovinos/microbiologia , Surtos de Doenças/veterinária , Polimorfismo de Nucleotídeo Único , Animais , Antraz/epidemiologia , Antraz/microbiologia , Bacillus anthracis/classificação , Bacillus anthracis/patogenicidade , Proteínas de Bactérias/genética , Bovinos , Doenças dos Bovinos/epidemiologia , DNA Bacteriano/sangue , DNA Bacteriano/genética , Marcadores Genéticos , Genótipo , Repetições Minissatélites , Reação em Cadeia da Polimerase , South Dakota/epidemiologia , Transativadores/genéticaAssuntos
Aorta Torácica/anormalidades , Síndromes do Arco Aórtico/complicações , Persistência do Tronco Arterial/complicações , Aorta Torácica/diagnóstico por imagem , Tronco Braquiocefálico/anormalidades , Tronco Braquiocefálico/diagnóstico por imagem , Ecocardiografia , Humanos , Lactente , Artéria Pulmonar/anormalidades , Artéria Pulmonar/diagnóstico por imagem , Radiografia , Artéria Subclávia/anormalidades , Artéria Subclávia/diagnóstico por imagemRESUMO
Physical and optical properties of biomass burning aerosols in Northeastern region, India analyzed based on measurements made during February 2002. Large spatial extent of Northeastern Region moist tropical to moist sub-tropical forests in India have high frequency of burning in annual dry seasons. Characterization of resultant trace gases and aerosols from biomass burning is important for the atmospheric radiative process. Aerosol optical depth (AOD) observed to be high during burning period compared to pre- and post-burning days. Peak period of biomass burning is highly correlated with measured AOD and total columnar water vapor. Size distribution of aerosols showed bimodal size distribution during burning day and unimodal size distribution during pre- and post-burning days. Size distribution retrievals from biomass burning aerosols show dominance of accumulation mode particles. Weighted mean radius is high (0.22 microm) during burning period. Columnar content of aerosols observed to be high during burning period in addition to the drastic reduction of visibility. During the burning day Anderson sampler measurements showed dominance of accumulation mode particles. The diurnal averaged values of surface shortwave aerosol radiative forcing af biomass burning aerosols varies from -59 to -87 Wm(-2) on different days. Measured and modeled solar irradiances are also discussed in the paper.
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Poluentes Atmosféricos/análise , Biomassa , Monitoramento Ambiental , Incineração , Índia , Modelos Químicos , Tamanho da Partícula , Energia SolarRESUMO
This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q) in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.
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Inversão Cromossômica , Cromossomos Humanos Par 21/genética , Cromossomos Humanos Par 22/genética , Cromossomos Humanos Par 9/genética , Síndrome de Down/genética , Diagnóstico Pré-Natal , Translocação Genética/genética , Adulto , Feminino , Humanos , GravidezRESUMO
Kawasaki disease (KD) is an acute systemic vasculitis of unknown aetiology that has largely replaced rheumatic heart disease as a cause of acquired heart disease in children of many developed countries. We report a case of incomplete KD in a five-year-old girl. The diagnosis of incomplete KD was made after exclusion of conditions with similar presentation. She was treated with intravenous immunoglobulin following which she made an uneventful recovery but demonstrated thrombocytosis in the second week of convalescence. During the six-month follow up period, she had two episodes of recurrent skin peeling a phenomenon, which is recently reported with KD but not with atypical or incomplete KD. It is important for the treating physicians to become aware of the incomplete KD as prompt diagnosis and early treatment of these patients with intravenous immunoglobulin is vital for the prevention of lethal coronary complications. Physicians need to have a "high index of suspicion" for KD and even, higher for IKD.
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Síndrome de Linfonodos Mucocutâneos/diagnóstico , Dermatopatias/etiologia , Aspirina/uso terapêutico , Pré-Escolar , Feminino , Fibrinolíticos/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/classificação , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Dermatopatias/tratamento farmacológicoRESUMO
A few cases of necrotizing myelitis have been reported in adults since its first description in 1973. No case has been described in the pediatric age group. A 12-year-old boy, who presented with acute flaccid paraplegia, loss of sphincter control and sensory loss showed features suggestive of necrotizing myelitis on magnetic resonance imaging. Investigations carried out could not reveal a specific etiological or pre-disposing factor. No clinical improvement occurred despite the therapy.
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Mielite Transversa/diagnóstico , Criança , Humanos , Imunocompetência , MasculinoRESUMO
Reduced central serotonergic activity has been implicated in poor impulse regulation and aggressive behaviour in animals, adults and also young children.(1,2) Two recently published studies have implicated variation at a polymorphism in the promoter of the serotonin transporter (5HTT; hSERT) in influencing susceptibility to ADHD.(3,4) Consistent with these results we have also found a trend for the long allele of the promoter polymorphism to influence susceptibility to ADHD in a sample of 113 ADHD parent proband trios (65 transmissions vs 49 non-transmissions, chi(2) = 2.25, P = 0.13). A pooled analysis of our, and these published results demonstrated a significant over representation of the long allele of the promoter in ADHD probands compared to controls (chi(2) = 7.14, P = 0.008). We have also examined two other 5HTT polymorphisms (the VNTR in intron 2 and the 3' UTR SNP). TDT analysis demonstrated preferential transmission of the T allele of the 3' UTR SNP (chi(2) = 4.06, P = 0.04). In addition, ETDT analysis of haplotypes demonstrated significant preferential transmission of haplotypes containing the T allele of the 3' UTR SNP with the long allele of the promoter polymorphism (chi(2) = 13.18, 3 df, P = 0.004) and the 10 repeat of the VNTR (chi(2) = 8.77, 3 df, P = 0.03). This study provides further evidence for the possible involvement of the serotonin transporter in susceptibility to ADHD.