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1.
Pract Neurol ; 21(3): 212-215, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33785565

RESUMO

Long-term electroencephalogram monitoring is often used to help distinguish epileptic from dissociative (non-epileptic) seizures. Home video telemetry now offers many of the benefits in diagnosis previously available only with inpatient video telemetry, which is usually regarded as the 'gold standard'. Here, we describe recent developments in home video telemetry and how we undertake this procedure in our unit.


Assuntos
Eletroencefalografia , Epilepsia , Epilepsia/diagnóstico , Humanos , Monitorização Ambulatorial , Convulsões/diagnóstico , Telemetria , Gravação em Vídeo
2.
Plant Physiol ; 180(1): 253-275, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30737266

RESUMO

The identification of functionally relevant molecular tags is vital for genomics-assisted crop improvement and enhancement of seed yield, quality, and productivity in chickpea (Cicer arietinum). The simultaneous improvement of yield/productivity as well as quality traits often requires pyramiding of multiple genes, which remains a major hurdle given various associated epistatic and pleotropic effects. Unfortunately, no single gene that can improve yield/productivity along with quality and other desirable agromorphological traits is known, hampering the genetic enhancement of chickpea. Using a combinatorial genomics-assisted breeding and functional genomics strategy, this study identified natural alleles and haplotypes of an ABCC3-type transporter gene that regulates seed weight, an important domestication trait, by transcriptional regulation and modulation of the transport of glutathione conjugates in seeds of desi and kabuli chickpea. The superior allele/haplotype of this gene introgressed in desi and kabuli near-isogenic lines enhances the seed weight, yield, productivity, and multiple desirable plant architecture and seed-quality traits without compromising agronomic performance. These salient findings can expedite crop improvement endeavors and the development of nutritionally enriched high-yielding cultivars in chickpea.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Cicer/genética , Glutationa/metabolismo , Proteínas de Plantas/genética , Sementes/crescimento & desenvolvimento , Transportadores de Cassetes de Ligação de ATP/metabolismo , Transporte Biológico , Mapeamento Cromossômico , Cicer/metabolismo , Regulação da Expressão Gênica de Plantas , Genoma de Planta , Estudo de Associação Genômica Ampla , Haplótipos , Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética , Proteínas Associadas à Resistência a Múltiplos Medicamentos/metabolismo , Melhoramento Vegetal , Proteínas de Plantas/metabolismo , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Locos de Características Quantitativas , Sementes/genética
3.
Funct Integr Genomics ; 19(6): 973-992, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31177403

RESUMO

Developing functional molecular tags from the cis-regulatory sequence components of genes is vital for their deployment in efficient genetic dissection of complex quantitative traits in crop plants including chickpea. The current study identified 431,194 conserved non-coding SNP (CNSNP) from the cis-regulatory element regions of genes which were annotated on a chickpea genome. These genome-wide CNSNP marker resources are made publicly accessible through a user-friendly web-database ( http://www.cnsnpcicarbase.com ). The CNSNP-based quantitative trait loci (QTL) and expression QTL (eQTL) mapping and genome-wide association study (GWAS) were further integrated with global gene expression landscapes, molecular haplotyping, and DNA-protein interaction study in the association panel and recombinant inbred lines (RIL) mapping population to decode complex genetic architecture of one of the vital seed yield trait under drought stress, drought yield index (DYI), in chickpea. This delineated two constituted natural haplotypes and alleles from a histone H3 protein-coding gene and its transcriptional regulator NAC transcription factor (TF) harboring the major QTLs and trans-acting eQTL governing DYI in chickpea. The effect of CNSNPs in TF-binding cis-element of a histone H3 gene in altering the binding affinity and transcriptional activity of NAC TF based on chromatin immunoprecipitation-quantitative PCR (ChIP-qPCR) assay was evident. The CNSNP-led promising molecular tags scanned will essentially have functional significance to decode transcriptional gene regulatory function and thus can drive translational genomic analysis in chickpea.


Assuntos
Cicer/genética , Produtos Agrícolas/genética , Locos de Características Quantitativas , Sequências Reguladoras de Ácido Nucleico , Estresse Fisiológico , Cicer/crescimento & desenvolvimento , Cicer/metabolismo , Produtos Agrícolas/crescimento & desenvolvimento , Produtos Agrícolas/metabolismo , Secas , Histonas/genética , Histonas/metabolismo , Melhoramento Vegetal/métodos , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Característica Quantitativa Herdável , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Transcriptoma
4.
Theor Appl Genet ; 132(7): 2017-2038, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30929032

RESUMO

KEY MESSAGE: A combinatorial genomic strategy delineated functionally relevant natural allele of a CLAVATA gene and its marker (haplotype)-assisted introgression led to development of the early-flowering chickpea cultivars with high flower number and enhanced yield/productivity. Unraveling the genetic components involved in CLAVATA (CLV) signaling is crucial for modulating important shoot apical meristem (SAM) characteristics and ultimately regulating diverse SAM-regulated agromorphological traits in crop plants. A genome-wide scan identified 142 CLV1-, 28 CLV2- and 6 CLV3-like genes, and their comprehensive genomic constitution and phylogenetic relationships were deciphered in chickpea. The QTL/fine mapping and map-based cloning integrated with high-resolution association analysis identified SNP loci from CaCLV3_01 gene within a major CaqDTF1.1/CaqFN1.1 QTL associated with DTF (days to 50% flowering) and FN (flower number) traits in chickpea, which was further ascertained by quantitative expression profiling. Molecular haplotyping of CaCLV3_01 gene, expressed specifically in SAM, constituted two major haplotypes that differentiated the early-DTF and high-FN chickpea accessions from late-DTF and low-FN. Enhanced accumulation of transcripts of superior CaCLV3_01 gene haplotype and known flowering promoting genes was observed in the corresponding haplotype-introgressed early-DTF and high-FN near-isogenic lines (NILs) with narrow SAM width. The superior haplotype-introgressed NILs exhibited early-flowering, high-FN and enhanced seed yield/productivity without compromising agronomic performance. These delineated molecular signatures can regulate DTF and FN traits through SAM proliferation and differentiation and thereby will be useful for translational genomic study to develop early-flowering cultivars with enhanced yield/productivity.


Assuntos
Cicer/genética , Flores/fisiologia , Transdução de Sinais , Mapeamento Cromossômico , Cicer/fisiologia , Genoma de Planta , Haplótipos , Proteínas de Membrana/genética , Fenótipo , Filogenia , Proteínas de Plantas/genética , Locos de Características Quantitativas
5.
Eur Ann Allergy Clin Immunol ; 50(1): 10-18, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29350017

RESUMO

Summary: The association between grass pollen sensitization and food allergy to tomato is of great interest. We report here, the first such study in Indian population. We investigated 246 allergic rhinitis / asthma patients by diagnostic case history and skin prick test (SPT); grass pollen mix, tomato extract and purified tomato profilin were used for SPT. Tomato profilin was purified by affinity chromatography, and analyzed by HPLC (95% purity) and SDS-PAGE (14 kDa). We observed that 38% of the patients had sensitization to both grass pollen and tomato fruit, of which 92% were sensitized to tomato profilin. Among patients with a history of food allergy to tomato fruit, the association was more pronounced (66%). Tomato profilin appears to be an important cross-sensitizing panallergen in respiratory allergic patients in the Indian subcontinent.


Assuntos
Hipersensibilidade Alimentar/diagnóstico , Hipersensibilidade Respiratória/diagnóstico , Testes Cutâneos/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alérgenos/imunologia , Criança , Pré-Escolar , Reações Cruzadas , Feminino , Hipersensibilidade Alimentar/imunologia , Humanos , Imunização , Solanum lycopersicum/imunologia , Masculino , Pessoa de Meia-Idade , Poaceae/imunologia , Pólen/imunologia , Profilinas/imunologia , Hipersensibilidade Respiratória/imunologia
6.
Osteoporos Int ; 27(3): 861-871, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26419471

RESUMO

Antiosteoporotic medications are often used to concurrently treat a patient's fragility fractures and underlying osteoporosis. This review evaluates the existing literature from animal and clinical models to determine these drugs' effects on fracture healing. The data suggest that these medications may enhance bone healing, yet more thorough prospective studies are warranted. Pharmacologic agents that influence bone remodeling are an essential component of osteoporosis management. Because many patients are first diagnosed with osteoporosis when presenting with a fragility fracture, it is critical to understand how osteoporotic medications influence fracture healing. Vitamin D and its analogs are essential for the mineralization of the callus and may also play a role in callus formation and remodeling that enhances biomechanical strength. In animal models, antiresorptive medications, including bisphosphonates, denosumab, calcitonin, estrogen, and raloxifene, do not impede endochondral fracture healing but may delay repair due to impaired remodeling. Although bisphosphonates and denosumab delay callus remodeling, they increase callus volume and result in unaltered biomechanical properties. Calcitonin increases cartilage formation and callus maturation, resulting in improved biomechanical properties. Parathyroid hormone, an anabolic agent, has demonstrated promise in animal models, resulting in accelerated healing with increased callus volume and density, more rapid remodeling to mature bone, and improved biomechanical properties. Clinical data with parathyroid hormone have demonstrated enhanced healing in distal radius and pelvic fractures as well as postoperatively following spine surgery. Strontium ranelate, which may have both antiresorptive and anabolic properties, affects fracture healing differently in normal and osteoporotic bone. While there is no effect in normal bone, in osteoporotic bone, strontium ranelate increases callus bone formation, maturity, and mineralization; forms greater and denser trabeculae; and improves biomechanical properties. Further clinical studies with these medications are needed to fully understand their effects on fracture healing in order to simultaneously treat fragility fractures and underlying osteoporosis.


Assuntos
Conservadores da Densidade Óssea/farmacologia , Consolidação da Fratura/efeitos dos fármacos , Osteoporose/tratamento farmacológico , Fraturas por Osteoporose/fisiopatologia , Anabolizantes/farmacologia , Anabolizantes/uso terapêutico , Animais , Conservadores da Densidade Óssea/uso terapêutico , Calcitonina/farmacologia , Calcitonina/uso terapêutico , Denosumab/farmacologia , Denosumab/uso terapêutico , Difosfonatos/farmacologia , Difosfonatos/uso terapêutico , Modelos Animais de Doenças , Medicina Baseada em Evidências , Humanos , Tiofenos/farmacologia , Tiofenos/uso terapêutico
7.
Indian J Exp Biol ; 54(6): 394-9, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27468466

RESUMO

Lentil, as an economical source of protein, minerals and vitamins, plays important role in nutritional security of the common man. Grown mainly in West Asia, North Africa (WANA) region and South Asia, it suffers from several biotic stresses such as wilt, rust, blight and broomrape. Lentil rust caused by autoecious fungus Uromyces viciae fabae (Pers.) Schroet is a serious lentil disease in Algeria, Bangladesh, Ethiopia, India, Italy, Morocco, Pakistan and Nepal. The disease symptoms are observed during flowering and early podding stages. Rust causes severe yield losses in lentil. It can only be effectively controlled by identifying the resistant source, understanding its inheritance and breeding for host resistance. The obligate parasitic nature of pathogen makes it difficult to maintain the pathogen in culture and to apply it to screen segregating progenies under controlled growth conditions. Hence, the use of molecular markers will compliment in identification of resistant types in different breeding programs. Here, we studied the inheritance of resistance to rust in lentil using F1, F2 and F2:3 from cross PL 8 (susceptible) x L 4149 (resistant) varieties. The phenotyping of lentil population was carried out at Sirmour, India. The result of genetic analysis revealed that a single dominant gene controls rust resistance in lentil genotype L 4149. The F2 population from this cross was used to tag and map the rust resistance gene using SSR and SRAP markers. Markers such as 270 SRAP and 162 SSR were studied for polymorphism and 101 SRAP and 33 SSRs were found to be polymorphic between the parents. Two SRAP and two SSR markers differentiated the resistant and susceptible bulks. SSR marker Gllc 527 was estimated to be linked to rust resistant locus at a distance of 5.9 cM. The Gllc 527 marker can be used for marker assisted selection for rust resistance; however, additional markers closer to rust resistant locus are required. The markers linked to the rust resistance gene can serve as starting points for map-based cloning of the rust resistance gene.


Assuntos
DNA de Plantas/genética , Resistência à Doença/genética , Marcadores Genéticos/genética , Lens (Planta)/genética , Lens (Planta)/microbiologia , Doenças das Plantas/genética , Basidiomycota , Índia
8.
Kathmandu Univ Med J (KUMJ) ; 13(50): 178-85, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26643840

RESUMO

Angiogenesis is an important aspect of a variety of physiological and pathological processes; and depends on the alteration of the balance between pro-angiogenic and anti-angiogenic factors. The role of angiogenesis in the progression and metastasis of neoplasm is a well established phenomenon. With regards to oral squamous cell carcinoma, it is a field of ongoing research and requires validation for it being used as a mode of anti-cancer therapy. This review focuses on the concept of angiogenesis, the factors associated with it, the relationship of angiogenesis with oral epithelial dysplasia and oral squamous cell carcinoma; the methods of studying angiogenesis and anti angiogenic therapy.


Assuntos
Carcinoma de Células Escamosas/patologia , Neoplasias Bucais/patologia , Neovascularização Patológica/fisiopatologia , Humanos , Masculino , Fator A de Crescimento do Endotélio Vascular/metabolismo
9.
Acta Virol ; 58(1): 34-42, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24717027

RESUMO

Dasheen mosaic virus (DsMV) infecting three major edible aroids namely Amorphophallus paeoniifolius, Colocasia esculenta, and Xanthosoma sagittifolium cultivated in India was characterized. Infected plants showing typical DsMV symptoms were subjected to reverse transcription-polymerase chain reaction, and an amplification of a 963 bp fragment which encoded the coat protein (CP) gene was obtained. BLAST analysis of the cloned DNA amplicon revealed the identity of the virus to be that of DsMV. Sequence identity matrix of the nucleotide sequences among the three isolates showed that the DsMV isolate infecting A. paeoniifolius and C. esculenta shared an identity as high as 93%, while the DsMV isolate from X. sagittifolium shared an identity of only 73% and 76% with the DsMV isolates from A. paeoniifolius and C. esculenta, respectively. Comparative analysis of the coat protein of the three DsMV isolates showed the presence of DVG motif (A. paeoniifolius and C. esculenta) and DTG motif in X. sagittifolium and several varying potential threonine and asparagine rich N-glycosylation motifs. Single amino acid substitution of the several conserved motifs occurs in all the three DsMV isolates. This is the first characterization of DsMV isolates infecting A. paeoniifolius, C. esculenta, and X. sagittifolium plants in India.


Assuntos
Araceae/virologia , Vírus do Mosaico/genética , Doenças das Plantas/virologia , Animais , Sequência de Bases , Índia , Filogenia , RNA Viral/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa
10.
Mymensingh Med J ; 33(2): 605-612, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38557547

RESUMO

Accomplishment of an ideal root canal treatment is attributed to various essential factors such as proper instrumentation, chemomechanical preparation, obturation and post endodontic restoration. The main aim of this study is to test the null hypothesis that is the moisture condition of root dentin would not affect the bond strength and sealer penetration. This is an in vitro study conducted in Department of Conservative Dentistry and Endodontics, M A Rangoonwala Dental College, Pune, India over a period of two years (from 2021 to 2023). One hundred and twenty single-rooted Premolars with fully formed apices and similar root morphology were obtained and stored in 0.1% thymol solution. The specimens were randomly assigned to 3 broad experimental groups (n=40) according to the drying protocol such as Group A- Paper points (P), Group B- diode laser (L) and Group C- isopropyl alcohol (A). For each drying protocol, the specimens were further assigned to 2 subgroups (n=20) with respect to the sealers used: AH Plus (AH) and Apexit Plus sealers (APx). The effect of drying protocol using paper points, isopropyl alcohol and diode-lasers on the bond strength and tag penetration of two different sealers to the root dentin was evaluated. Maximum overall push-out Bond strength was seen in group AH+L and least in group APx+ L. Inter-site push-out bond Strength was highest in the coronal third followed by the middle and least in the apical third of all the groups. Maximum over all depth of penetration was seen in group AH+L and minimum in group APx+L. AH plus sealer showed better bond strength, sealer penetration and adaptation to the dentinal walls compared to Apexit plus sealer, irrespective of the drying protocol followed. All the drying protocols used did not show statistically significant results in the apical thirds of root canals of all the groups.


Assuntos
Hidróxido de Cálcio , Materiais Restauradores do Canal Radicular , Humanos , Materiais Restauradores do Canal Radicular/análise , Materiais Restauradores do Canal Radicular/química , Resinas Epóxi/análise , Resinas Epóxi/química , 2-Propanol/análise , Índia , Dentina/química
11.
Int J Obes (Lond) ; 37(11): 1490-8, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23381555

RESUMO

OBJECTIVE: Obesity is associated with an increase in various pro-inflammatory and anti-inflammatory cytokines, but the interplay of these cytokines is incompletely understood. We conducted experiments to test a broader hypothesis that a dynamic interplay of pro-inflammatory and anti-inflammatory cytokines controls lipid storage in adipocytes. DESIGN: Three experiments were designed to test the overall hypothesis that proinflammatory cytokine (for example, tumor necrosis factor-α (TNF-α) inhibits anti-inflammatory cytokine (for example, adiponectin) activity in an attempt to limit excess lipid accumulation in adipocytes. RESULTS: Experiment one showed that in pro-inflammatory animal models (ap2-P65, ob/ob and high-fat diet-induced obese mice), the increase in TNF-α expression was associated with a decrease in adiponectin expression. Experiment two showed that in 3T3-L1 adipocytes, TNF-α significantly reduced lipid accumulation and glucose uptake induced by adiponectin, and increased lipolysis. Experiment three showed that in 3T3-L1 adipocytes, TNF-α reduced mRNA and protein expression of adiponectin. Adiponectin gene transcription and mRNA stability were both reduced by TNF-α. The expression of peroxisome proliferator-activated receptor gamma, an activator of adiponectin gene promoter, was reduced by TNF-α. The inhibitory activity of TNF-α was blocked by the chemical inhibitors of NF-κB and super suppressor IκBα. CONCLUSIONS: TNF-α opposes the action of adiponectin in the regulation of lipid metabolism, and inhibits adiponectin expression at transcriptional and post-transcriptional levels. The results suggest that pro-inflammatory cytokine inhibit anti-inflammatory cytokine in adipocytes to reduce lipid storage. This suggests a potential role of anti-inflammatory cytokines in the control of adipose tissue expansion.


Assuntos
Adiponectina/metabolismo , Tecido Adiposo/metabolismo , Inflamação/metabolismo , Metabolismo dos Lipídeos , Obesidade/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Células 3T3-L1/metabolismo , Tecido Adiposo/patologia , Animais , Western Blotting , Feminino , Regulação da Expressão Gênica , Resistência à Insulina , Masculino , Camundongos , Camundongos Obesos , Camundongos Transgênicos , Obesidade/patologia , Reação em Cadeia da Polimerase em Tempo Real , Transdução de Sinais
12.
Int J Obes (Lond) ; 37(1): 146-53, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22310476

RESUMO

BACKGROUND: Cellular glucose uptake can be enhanced by upregulating Ras signaling in either insulin-dependent or -independent manner. In presence of insulin and intact insulin signaling, Ras has a negligible role in glucose uptake. Conversely, when insulin signaling is impaired in obesity or diabetes, the insulin-independent Ras pathway may be valuable for enhancing glucose disposal. We previously reported that Ad36, a human adenovirus, enhances cellular glucose uptake by upregulating the Ras/Glut4 pathway. Here, we investigated if Ad36-upregulated Ras via the insulin-independent pathway, to enhance glucose uptake. Furthermore, uncontrolled upregulation of Ras is linked with oncogenic cell transformation, if the tumor-suppressor gene p53 is also downregulated. Hence, we determined if upregulation of Ras by Ad36 would induce oncogenic cell transformation. Finally, we determined the relevance of Ad36 to insulin resistance in humans. METHODS: Insulin receptor (IR) was knocked down with small interfering RNA in 3T3-L1 adipocytes, to determine if Ad36 increases the Ras/Glut4 pathway and glucose uptake without IR-signaling. Next, the effects of Ad36 on cell transformation and p53 abundance were determined. Finally, overweight or obese women were screened for seropositivity to Ad36, as an indicator of natural Ad36 infection. Associations of Ad36 infection with adiposity and C-reactive proteins (CRPs)-two key markers of insulin resistance, and with glucose disposal, were determined. RESULTS: Unaffected by IR knock-down, Ad36 significantly increased the Ras pathway, Glut4 translocation and glucose uptake in 3T3-L1 adipocytes. Despite Ras upregulation, Ad36 did not transform 3T3-L1 cells. This may be because Ad36 significantly increased p53 protein in 3T3-L1 cells or mice adipose tissue. Ad36 seropositivity was associated with greater adiposity and CRP levels, yet a significantly higher systemic glucose disposal rate. CONCLUSIONS: Overall, the study offers Ras/Glut4 pathway as an alternate to enhance glucose disposal when insulin signaling is impaired, and, importantly, provides Ad36 as a tool to understand the modulation of that pathway.


Assuntos
Infecções por Adenovirus Humanos/diagnóstico , Adenovírus Humanos/isolamento & purificação , Transportador de Glucose Tipo 4/metabolismo , Glucose/metabolismo , Receptor de Insulina/metabolismo , Proteínas ras/metabolismo , Células 3T3-L1 , Animais , Western Blotting , Técnicas de Cultura de Células , Feminino , Genes p53/genética , Transportador de Glucose Tipo 4/genética , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Reação em Cadeia da Polimerase em Tempo Real , Transdução de Sinais , Regulação para Cima , Proteínas ras/genética
13.
Zootaxa ; 5361(4): 566-572, 2023 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-38220741

RESUMO

A new species of Taeniogonalos Schulz, namely, Taeniogonalos dhritiae Girish Kumar & Hegde sp. nov., is described from the Western Ghats, India. A revised key to Indian species is provided.


Assuntos
Himenópteros , Animais , Índia
14.
J Med Genet ; 46(4): 242-8, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18805830

RESUMO

BACKGROUND: Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. PATIENTS: DNA samples from 1445 unrelated patients submitted consecutively for clinical array comparative genomic hybridisation (CGH) testing at Children's Hospital Boston and DNA samples from 1441 individuals with autism from 751 families in the Autism Genetic Resource Exchange (AGRE) repository. RESULTS: We report the clinical features of five patients with a BP4-BP5 deletion, three with a BP4-BP5 duplication, and two with an overlapping but smaller duplication identified by whole genome high resolution oligonucleotide array CGH. These BP4-BP5 deletion cases exhibit minor dysmorphic features, significant expressive language deficits, and a spectrum of neuropsychiatric impairments that include autism spectrum disorder, attention deficit hyperactivity disorder, anxiety disorder, and mood disorder. Cognitive impairment varied from moderate mental retardation to normal IQ with learning disability. BP4-BP5 covers approximately 1.5 Mb (chr15:28.719-30.298 Mb) and includes six reference genes and 1 miRNA gene, while the smaller duplications cover approximately 500 kb (chr15:28.902-29.404 Mb) and contain three reference genes and one miRNA gene. The BP4-BP5 deletion and duplication events span CHRNA7, a candidate gene for seizures. However, none of these individuals reported here have epilepsy, although two have an abnormal EEG. CONCLUSIONS: The phenotype of chromosome 15q13.2q13.3 BP4-BP5 microdeletion/duplication syndrome may include features of autism spectrum disorder, a variety of neuropsychiatric disorders, and cognitive impairment. Recognition of this broader phenotype has implications for clinical diagnostic testing and efforts to understand the underlying aetiology of this syndrome.


Assuntos
Transtorno Autístico/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 15/genética , Deficiência Intelectual/genética , Adolescente , Transtorno Autístico/patologia , Criança , Pré-Escolar , Deleção Cromossômica , Hibridização Genômica Comparativa , Feminino , Duplicação Gênica , Humanos , Lactente , Deficiência Intelectual/patologia , Masculino , Fenótipo , Adulto Jovem
15.
Biochim Biophys Acta Mol Basis Dis ; 1865(11): 165531, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31398466

RESUMO

Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder worldwide. While the causes of AD are unclear, several risk factors have been identified, including impaired glycemic control, which significantly increases the risk of cognitive decline and AD. In vitro and in vivo studies show that human adenovirus 36 (Ad36) improves glycemic control by increasing cellular glucose uptake in cells, experimental animal models and in humans who are naturally exposed to the virus. This study, tested improvement in glycemic control by Ad36 and delay in onset of cognitive decline in APPswe transgenic mice (Tg2576 line), a model of genetic predisposition to impaired glycemic control and AD. Three-month old APPswe mice were divided into Ad36 infected (Ad36) or mock infected (control) groups and baseline glycemic control measured by glucose tolerance test (GTT) prior to infection. Changes in glycemic control were determined 10- and 24-week post infection. Serum insulin was also measured during GTT. Cognition was determined by Y-maze test, while motor coordination and skill acquisition by rotarod test. Glycemic control as determined by GTT showed less deterioration in Ad36 infected mice over time, accompanied by a significant attenuation of cognitive decline. Analysis of brain tissue lysate showed significantly reduced levels of amyloid beta 42 in Ad36 mice relative to control mice. Golgi-Cox staining analysis also revealed reduced dendritic spines and synaptic gene expression in control mice compared to Ad36 infected mice. This proof of concept study shows that in a mouse model of AD, Ad36 improves glycemic control and ameliorates cognitive decline.


Assuntos
Infecções por Adenoviridae/complicações , Adenoviridae/fisiologia , Doença de Alzheimer/complicações , Disfunção Cognitiva/complicações , Infecções por Adenoviridae/sangue , Infecções por Adenoviridae/patologia , Doença de Alzheimer/sangue , Doença de Alzheimer/patologia , Peptídeos beta-Amiloides/análise , Animais , Glicemia/análise , Disfunção Cognitiva/sangue , Disfunção Cognitiva/patologia , Espinhas Dendríticas/patologia , Modelos Animais de Doenças , Teste de Tolerância a Glucose , Humanos , Camundongos Transgênicos , Fatores de Proteção
16.
Biomed Res Int ; 2019: 1638508, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31915682

RESUMO

INTRODUCTION: Treatment of open fractures routinely involves multiple surgeries and delayed definitive fracture fixation because of concern for infection. If implants were made less susceptible to infection, a one-stage procedure with intramedullary nailing would be more feasible, which would reduce morbidity and improve outcomes. METHODS: In this study, a novel open fracture mouse model was developed using Staphylococcus aureus (S. aureus) and single-stage intramedullary fixation. The model was used to evaluate whether implants coated with a novel "smart" polymer coating containing vancomycin or tigecycline would be colonized by bacteria in an open fracture model infected with S. aureus. In vivo bioluminescence, ex vivo CFUs, and X-ray images were evaluated over a 42-day postoperative period. RESULTS: We found evidence of a markedly decreased bacterial burden with the local release of vancomycin and tigecycline from the PEG-PPS polymer compared to polymer alone. Vancomycin was released in a controlled fashion and maintained local drug concentrations above the minimum inhibition concentration for S. aureus for greater than 7 days postoperatively. Bacteria were reduced 139-fold from implants containing vancomycin and undetected from the bone and soft tissue. Tigecycline coatings led to a 5991-fold reduction in bacteria isolated from bone and soft tissue and 15-fold reduction on the implants compared to polymer alone. Antibiotic coatings also prevented osteomyelitis and implant loosening as observed on X-ray. CONCLUSION: Vancomycin and tigecycline can be encapsulated in a polymer coating and released over time to maintain therapeutic levels during the perioperative period. Our results suggest that antibiotic coatings can be used to prevent implant infection and osteomyelitis in the setting of open fracture. This novel open fracture mouse model can be used as a powerful in vivo preclinical tool to evaluate and optimize the treatment of open fractures before further studies in humans.


Assuntos
Antibacterianos/farmacocinética , Antibioticoprofilaxia/métodos , Preparações de Ação Retardada , Fraturas Expostas/microbiologia , Osteomielite/prevenção & controle , Próteses e Implantes/microbiologia , Infecções Estafilocócicas/prevenção & controle , Staphylococcus aureus/efeitos dos fármacos , Tigeciclina/farmacocinética , Vancomicina/farmacocinética , Animais , Modelos Animais de Doenças , Fraturas Expostas/diagnóstico por imagem , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Ortopedia , Osteomielite/diagnóstico por imagem , Osteomielite/microbiologia , Infecções Estafilocócicas/diagnóstico por imagem
17.
Plant Dis ; 92(2): 311, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30769415

RESUMO

Viruses are a major biotic constraint on sweet potato (Ipomoea batatas (L.) Lam) production worldwide. In 2005, 10 to 60% viral disease incidence was observed in sweet potato fields. Symptoms include ring and chlorotic spots, puckering, feathering, vein clearing, and leaf curl with chlorotic specks and pink spots. Cuttings from symptomatic plants were collected from Kerala (two clones), Orrisa (eight clones), and Adrapradesh (three clones) and maintained in an insect-proof glasshouse. Leaves from symptomatic plants were mechanically inoculated to I setosa, I. nil, Nicotiana tabacum, N. benthamiana, Datura stramonium, and Chenapodium quinoa (12 seedlings each). Vein clearing, netting, and leaf distortion were observed in I. setosa and N tabacum 7 days postinoculation, chlorotic spots observed in N. benthamiana, and violet spots and violet margins on leaves observed on I. Nil. No symptoms were observed on D. stramonium and C. quinoa. When scions from the symptomatic sweet potato plants were graft inoculated onto I. setosa, vein clearing, leaf curl, and puckering-like symptoms were observed within 5 days. Mosaic and leaf curling symptoms were also observed on mechanically inoculated N. tabacum. Total nucleic acids isolated from the 33 field-collected sweet potato samples, graft inoculated I. setosa plants, and mechanically inoculated N. tabacum and I. nil plants were used for PCR and reverse transcription (RT)-PCR with geminivirus group specific (2) and potyvirus group specific primers (1). The expected 530-bp and 1.3-kb fragment were generated from the geminivirus and potyvirus primer sets, respectively. Potyvirus alone was detected in 7 of the 33 field-collected plants; geminivirus alone was detected in 7 other plants, while 19 plants contained detectible levels of potyvirus and geminivirus. To further identify the viruses, nested primers specific for the coat protein gene of Sweet potato feathery mottle virus (SPFMV) (CP1S 5'AGT GGG AAG GCA CCA TAC ATA GC 3', CP1A5' GCA GAG GAT GTC CTA TTG CAC ACC 3') (CP2S 5'TCT AGT GAA CGT ACT GAA TTC AAA GA 3', CP2A 5'ATT GCA CAC CCC TGA TTC CTA AGA 3') and Sweet potato leaf curl virus (SPLCV) (CP1- 5'ATG ACA GGG CGA ATT CGC GTT TC 3', CP2- 5'TTA ATT TTT GTG CGA ATC ATA 3') were designed. I. setosa and N. tabacum were amplified with SPFMV and SPLCV primers and the amplicons of 960 and 764 bp, respectively, obtained were subsequently cloned into pGEM-T Easy vector and sequenced. Nucleotide BLAST analysis revealed that the 960-bp fragment (GenBank Accession No. EF015398.) was 98% identical to two Egyptian isolates of SPFMV (Nos. AJ 515379 and AJ 515378). The nucleotide sequence of the 764-bp products (Nos. EF 151926 and EF15483) from the samples collected from Kerala and Orisa was 95% identical to each other. The sequence identity of EF 15483 with Sweet potato leaf curl Georgia virus (SPLCGV) isolate AF326775. was 91% and identity with China isolate DQ 512731 was 90% The isolate EF 151926 also was 91% identical to the SPLCGV with a high query and alignment score whereas identity with the China isolate was 91% with a low query coverage and alignment score. Phylogenic analysis with MEGA software program also showed the highest sequence similarity with SPLCGV, hence it is concluded that the geminivirus isolate under study is SPLCGV. To our knowledge, this is the first report of identification of SPFMV and SPLCGV occurring on sweet potato in India. Further study is required to understand the consequences of occurrence of these two viruses in India. References: (1) D. Colinet et al. Plant Dis. 28:223 1998. (2) D. D. Deng et al. Ann. Appl. Biol 125:327, 1993.

18.
Indian J Crit Care Med ; 12(4): 158-62, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19742264

RESUMO

BACKGROUND AND AIM: It is well known that dialysis dependent renal failure increases the likelihood of poor outcome following cardiac surgery. But the results of CABG in patients with mild renal dysfunction are not clearly established. The aim of the study is to analyze the risk of preoperative mild renal dysfunction on outcome after isolated coronary surgery. MATERIALS AND METHODS: We reviewed prospectively collected data between June 2006-Nov 2006 in 488 patients who underwent isolated CABG. We separated the data into two groups. Control group having normal renal function and study group having mild renal dysfunction (serum creatinine 1.4 mg-2.2 mg%). Among 488 patients, 412 patients were in control group and 76 patients were in the study group. RESULTS: Analysis of data showed significant postoperative complications in the mild renal dysfunction group, like increased operative mortality (7.5% vs 1.6%), increased requirement of postoperative renal replacement therapy (10% vs 1.2%), increased incidence of new onset atrial fibrillation (20% vs 4.2%) and prolonged duration of ICU stay. Multivariate analysis adjusting for known risk factors confirmed preoperative mild renal dysfunction (S.creat.1.4-2.2 mg/dl) is an independent risk factor for postoperative morbidity and mortality. (Adj. OR: 4.47; 95% CI: 1.41-14.16; P=0.010). CONCLUSION: Mild renal dysfunction is an important independent predictor of outcome in terms of in-hospital mortality and morbidity in patients undergoing CABG.

19.
Artigo em Inglês | MEDLINE | ID: mdl-17982928

RESUMO

Allergic reactions to fresh fruits and nuts have become increasingly common. Mango (Mangifera indica) is a popular fruit eaten all over the world. We report the case of a 43-year-old woman who experienced oropharyngeal itching, swelling of the face and other parts of the body, and difficulty breathing within a few minutes of eating ripe mango fruit. The woman had no history of pollen or latex allergy. However, she reported instances of milder food allergic reactions to Indian dill and cashew apple. Skin prick tests using mango fruit pulp, Indian dill, and cashew apple extracts were positive. Prick tests with a panel of common grass and weed pollen extracts were negative. Enzyme-linked immunosorbent assay for mango-specific serum immunoglobulin (Ig) E was positive. A specific protein allergen in mango could not be detected by immunoblotting. Based on the strongly positive clinical history and results of allergy testing, it was concluded that the woman had IgE-mediated anaphylactic reactions to mango fruit.


Assuntos
Anafilaxia/diagnóstico , Hipersensibilidade Alimentar/diagnóstico , Mangifera/efeitos adversos , Adulto , Antígenos de Plantas/análise , Feminino , Humanos , Imunoglobulina E/sangue , Mangifera/química , Testes Cutâneos
20.
Nucleic Acids Res ; 28(14): 2779-83, 2000 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-10908335

RESUMO

Mitotic cells experience double-strand breaks (DSBs) from both exogenous and endogenous sources. Since unrepaired DSBs can result in genome rearrangements or cell death, cells mobilize multiple pathways to repair the DNA damage. In the yeast Saccharomyces cerevisiae, mitotic cells preferentially use a homologous recombination repair pathway. However, when no significant homology to the DSB ends is available, cells utilize a repair process called non-homologous end joining (NHEJ), which can join ends with no homology through resection to uncover microhomologies of a few nucleotides. Although components of the homologous recombination repair system are also involved in NHEJ, the rejoining does not involve all of the homologous recombination repair genes. The SRS2 DNA helicase has been shown to be required for DSB repair when the homologous single-stranded regions are short. Here it is shown that SRS2 is also required for NHEJ, regardless of the cell mating type. Efficient NHEJ of sticky ends requires the Ku70 and Ku80 proteins and the silencing genes SIR2, SIR3 and SIR4. However, NHEJ of blunt ends, while very inefficient, is not further reduced by mutations in YKU70, SIR2, SIR3, SIR4 or SRS2, suggesting that this rejoining process occurs by a different mechanism.


Assuntos
Adenosina Trifosfatases , DNA Helicases/genética , Reparo do DNA , Proteínas de Saccharomyces cerevisiae , Saccharomyces cerevisiae/genética , DNA Helicases/metabolismo , DNA Helicases/fisiologia , DNA Fúngico/genética , DNA Fúngico/metabolismo , Proteínas Fúngicas/genética , Proteínas Fúngicas/fisiologia , Genes Reguladores/genética , Genes Reguladores/fisiologia , Mutação , Transativadores/genética , Transativadores/fisiologia
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