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OBJECTIVE: Low fetal fraction (FF) on cell-free DNA (cfDNA)-based noninvasive prenatal screening (NIPS) is a common etiology for indeterminate results. As maternal Black race is implicated as a risk factor for low FF and more indeterminate results, we sought to evaluate this association. STUDY DESIGN: This was a single-institution, retrospective cohort study of cfDNA-based NIPS performed between May 2017 and May 2022 with complete clinical data abstraction. We compared FF, indeterminate rates, and total cfDNA concentration among self-reported Black, White, and Other groups from NIPS results from 2017 to 2022 with full clinical data abstraction. Using linear regression and interaction testing, we evaluated associations between self-reported race, FF, indeterminate rate, and total cfDNA concentration. RESULTS: In total, 1,591 participants met the inclusion criteria; 70.8% (n = 1,126) self-identified as White, 6.9% (n = 110) as Black, and 22.3% (n = 355) self-identified with another race. Mean FF was not different between the White, Black, or Other groups (11.8 vs. 11.2 vs. 11.7%, respectively, p = 0.52). This remained true after adjusting for body mass index (BMI), gestational age (GA) at draw, and fetal sex (all p > 0.17). Interaction testing for FF and total cfDNA by race with BMI, GA at draw, and fetal sex demonstrated no effect modification. CONCLUSION: In our population, maternal self-identified race, particularly Black race, does not affect FF. Biological plausibility for race-based differences on clinical tests requires ongoing thoughtful consideration. KEY POINTS: · NIPS is widely used to screen for fetal aneuploidy.. · FF is an important test metric, and low FF is associated with adverse outcomes, like aneuploidy.. · In existing studies, Black race is implicated as a risk factor for lower FF.. · Our study found no differences in FF between groups by self-reported race.. · Biological plausibility for race-based differences on clinical tests requires ongoing consideration..
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This review article focuses on the cognitive profile associated with the C9orf72 gene with GGGGCC (G4C2) hexanucleotide repeat expansions that is commonly found in both familial and sporadic forms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in order to aid clinicians in the screening process. In this growing clinical continuum between FTD and ALS, understanding and recognizing a neurocognitive profile is important for diagnosis. Key features of this profile include executive dysfunction with memory impairment and language deficits as the disease progresses. Behaviorally, patients are prone to disinhibition, apathy, and psychosis. With the discovery of this mutation, studies have begun to characterize the different phenotypes associated with this mutation in terms of epidemiology, clinical presentation, imaging, and pathology. Greater awareness and increased surveillance for this mutation will benefit patients and their families in terms of access to genetic counseling, research studies, and improved understanding of the disease process.
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Esclerosis Amiotrófica Lateral/enzimología , Cognición , Demencia Frontotemporal/enzimología , Proteínas/genética , Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/fisiopatología , Animales , Proteína C9orf72 , Demencia Frontotemporal/genética , Demencia Frontotemporal/fisiopatología , Humanos , Mutación , Fenotipo , Proteínas/metabolismoRESUMEN
BACKGROUND: Preclinical and clinical studies suggest mTOR (mammalian target of rapamycin) inhibitors may have metabolic and antiangiogenic effects, and synergize with epidermal growth factor pathway inhibitors. Therefore, a phase 1/pharmacodynamic trial of everolimus with cetuximab was performed. METHODS: A total of 29 patients were randomized to a run-in of oral everolimus (30, 50, or 70 mg) or cetuximab (400 mg/m(2) loading, 250 mg/m(2) maintenance) weekly, followed by the combination in this dose-escalation study. Primary endpoints were phase 2 dose and toxicity characterization. [(18)F]Fluorodeoxyglucose positron emission tomography (FDG-PET) was performed as a pharmacodynamic marker of mTOR inhibition, and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) was performed as an indicator of tumor perfusion changes, at 3 time points. RESULTS: Everolimus and cetuximab were tolerable at full doses, with an expected toxicity profile. Dose-limiting toxicities in the everolimus 70 mg group included grade 3 skin toxicity in 2 patients, and mucositis in 1 patient. Of 16 patients evaluable for response, 5 had stable disease lasting 4 to 19 months. Mean change in maximum standardized uptake value (SUV(max)) for those treated initially with everolimus was -24% (2% to -54%), and with cetuximab was -5% (-23 to 36%). The K(trans) measured by DCE-MRI did not decrease, regardless of run-in drug. CONCLUSIONS: Everolimus and cetuximab can be safely administered at standard doses, and are associated with prolonged disease control. The recommended phase 2 dose of oral weekly everolimus is 70 mg in combination with standard cetuximab. Imaging studies reveal that metabolic inhibition by everolimus alone and in combination with cetuximab predominates over changes in tumor perfusion in this patient population.
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Protocolos de Quimioterapia Combinada Antineoplásica/farmacología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias/tratamiento farmacológico , Adulto , Anciano , Anticuerpos Monoclonales Humanizados/administración & dosificación , Anticuerpos Monoclonales Humanizados/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Cetuximab , Relación Dosis-Respuesta a Droga , Everolimus , Femenino , Fluorodesoxiglucosa F18 , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/diagnóstico por imagen , Neoplasias/metabolismo , Cintigrafía , Radiofármacos , Sirolimus/administración & dosificación , Sirolimus/efectos adversos , Sirolimus/análogos & derivados , Serina-Treonina Quinasas TOR/antagonistas & inhibidores , Serina-Treonina Quinasas TOR/metabolismoRESUMEN
INTRODUCTION: Hypospadias is a common disease that affects approximately 1 in every 200 live male births in the United States, and long-term studies of individuals who have undergone repair demonstrate complication rates of 15%-70%. The Hypospadias-Specific Health-related Quality of Life (HRQOL) Conceptual Framework for youth and adults suggests that additional morbidity may be incurred from poor psychological, social, and sexual health. The current study sought to clarify hypospadias-specific HRQOL and care priorities in a pre-pubertal population. MATERIAL AND METHODS: This IRB-approved, semi-structured interview study used rigorous qualitative research methods. Eligible patients were English-speaking 8-12-year-old males with hypospadias and their parents. Families completed a demographic questionnaire and separate youth and parent 30-min telephone interviews. We used hybrid thematic analysis to develop an operational codebook, analyze participant responses, and generate conceptual themes. Mixed methods analysis was used to explore patterns of experiences across groups defined by socioeconomic level. RESULTS: We interviewed 10 parents and 8 children (Median age 9 years, Range 8-11). We generated three overarching themes: Penile Factors, Psychosocial Concerns, and Expectations of Surgery and the Healthcare Team. These highest-order themes were generated for youth, parent-proxy, and parent self-reported experiences, and there were different sub-themes for each participant type (Figure). Youth were focused on avoidance of disclosure and the psychological impact of self-comparisons and embarrassment, while the parental perspective centered on worries about future fertility, complications, psychological health, and normality. Some youth and parents from disadvantaged neighborhoods or those with public insurance indicated a need for more education on normal penile functions and provision of strategies for long-term self-monitoring and facilitation of long-term follow-up on mixed methods analysis. CONCLUSION: These findings add insight into the multifaceted experiences of pre-pubertal youth and families dealing with hypospadias, and underscore the consistent, wide-ranging interplay between medical, psychological, and social concerns. Patterns in themes across socioeconomic status and insurance coverage suggest that access to information and quality care may vary significantly and could contribute to health disparities. Urologists should employ an individualized approach to counseling and care delivery. Future studies will seek to characterize care priorities in pubertal and post-pubertal age groups to design developmentally adjusted support tools for youth and adults with hypospadias and their families.
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The Hedgehog (Hh) signaling pathway regulates tissue patterning during development, including patterning and growth of limbs and face, but whether Hh signaling plays a role in adult kidney remains undefined. In this study, using a panel of hedgehog-reporter mice, we show that the two Hh ligands (Indian hedgehog and sonic hedgehog ligands) are expressed in tubular epithelial cells. We report that the Hh effectors (Gli1 and Gli2) are expressed exclusively in adjacent platelet-derived growth factor receptor-ß-positive interstitial pericytes and perivascular fibroblasts, suggesting a paracrine signaling loop. In two models of renal fibrosis, Indian Hh ligand was upregulated with a dramatic activation of downstream Gli effector expression. Hh-responsive Gli1-positive interstitial cells underwent 11-fold proliferative expansion during fibrosis, and both Gli1- and Gli2-positive cells differentiated into α-smooth muscle actin-positive myofibroblasts. In the pericyte-like cell line 10T1/2, hedgehog ligand triggered cell proliferation, suggesting a possible role for this pathway in the regulation of cell cycle progression of myofibroblast progenitors during the development of renal fibrosis. The hedgehog antagonist IPI-926 abolished Gli1 induction in vivo but did not decrease kidney fibrosis. However, the transcriptional induction of Gli2 was unaffected by IPI-926, suggesting the existence of smoothened-independent Gli activation in this model. This study is the first detailed description of paracrine hedgehog signaling in adult kidney, which indicates a possible role for hedgehog-Gli signaling in fibrotic chronic kidney disease.
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Proteínas Hedgehog/metabolismo , Riñón/patología , Animales , Línea Celular , Proliferación Celular , Células Cultivadas , Modelos Animales de Enfermedad , Células Epiteliales/metabolismo , Fibroblastos/metabolismo , Fibrosis , Riñón/metabolismo , Túbulos Renales/metabolismo , Factores de Transcripción de Tipo Kruppel/antagonistas & inhibidores , Factores de Transcripción de Tipo Kruppel/metabolismo , Ligandos , Ratones , Ratones Endogámicos C57BL , Ratones Mutantes , Comunicación Paracrina/fisiología , Receptores Patched , Pericitos/metabolismo , Pericitos/patología , Receptores de Superficie Celular/metabolismo , Transducción de Señal/fisiología , Regulación hacia Arriba/fisiología , Alcaloides de Veratrum/farmacología , Proteína con Dedos de Zinc GLI1 , Proteína Gli2 con Dedos de ZincRESUMEN
BACKGROUND: Quinolone-resistant Neisseria gonorrhoeae (QRNG) arise from mutations in gyrA (intermediate resistance) or gyrA and parC (resistance). Here we tested the consequence of commonly isolated gyrA(91/95) and parC86 mutations on gonococcal fitness. METHODS: Mutant gyrA(91/95) and parC86 alleles were introduced into wild-type gonococci or an isogenic mutant that is resistant to macrolides due to an mtrR(-79) mutation. Wild-type and mutant bacteria were compared for growth in vitro and in competitive murine infection. RESULTS: In vitro growth was reduced with increasing numbers of mutations. Interestingly, the gyrA(91/95) mutation conferred an in vivo fitness benefit to wild-type and mtrR(-79) mutant gonococci. The gyrA(91/95), parC86 mutant, in contrast, showed a slight fitness defect in vivo, and the gyrA(91/95), parC86, mtrR(-79) mutant was markedly less fit relative to the parent strains. A ciprofloxacin-resistant (Cip(R)) mutant was selected during infection with the gyrA(91/95), parC86, mtrR(-79) mutant in which the mtrR(-79) mutation was repaired and the gyrA(91) mutation was altered. This in vivo-selected mutant grew as well as the wild-type strain in vitro. CONCLUSIONS: gyrA(91/95) mutations may contribute to the spread of QRNG. Further acquisition of a parC86 mutation abrogates this fitness advantage; however, compensatory mutations can occur that restore in vivo fitness and maintain Cip(R).
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Antibacterianos/farmacología , Farmacorresistencia Bacteriana , Fluoroquinolonas/farmacología , Mutación , Neisseria gonorrhoeae/efectos de los fármacos , Neisseria gonorrhoeae/fisiología , Animales , Girasa de ADN/genética , Topoisomerasa de ADN IV/genética , Femenino , Gonorrea/microbiología , Gonorrea/patología , Macrólidos/farmacología , Ratones , Ratones Endogámicos BALB C , Neisseria gonorrhoeae/genética , Neisseria gonorrhoeae/crecimiento & desarrollo , VirulenciaRESUMEN
Introduction Globally, stroke is one of the top ten causes of death. The incidence of stroke in patients aged 44 years and younger was noted to have risen over the past three decades. This rise in stroke diagnosis among young adults could be attributed to multiple reasons, including the rising prevalence of comorbidities like diabetes, hypertension, substance use disorders (SUDs), etc. Aim & objectives This study's primary aim was to evaluate the prevalence of stroke in the US population and the prevalence of SUDs amongst patients with a prior history of stroke. The secondary aim was to evaluate the association between Stroke and SUDs. Methods Our population was obtained from the National Health and Nutrition Examination Survey (NHANES) between the years 2013 to 2018. We identified respondents diagnosed with stroke using the questionnaire and the history of various SUDs amongst this population. The data were analyzed using SAS software (Version 9.4). We performed univariate analysis using the chi-square and Mann-Whitney test, and a p-value of <0.05 was considered statistically significant. Results Two hundred sixty-four thousand seven hundred forty (264,740) respondents were included in this study, and 10435 (3.94%) respondents were noted to have a history of stroke. The population subset with a stroke diagnosis was older (68 years vs. 51 years). Higher prevalence was noted among the female sex (52.14% females vs. 47.86% males), Non-Hispanic white ethnicity, followed by Non-Hispanic black & then other Hispanics (47.56% vs.25.47% vs. 7.82%), and those belonging to a lower annual household income of $0-$25,000 and $25,000-$65,000 ( 46.61% vs. 35.93% ). (p<0.0001). After adjusting for socio-demographics and coexisting comorbidities, e-cigarette [OR: 2.03; 95% CI: 2.03-2.03], cocaine [OR: 1.54; 95%CI:1.54-1.54], heroin [OR: 1.83; 95%CI: 1.83-1.83], marijuana or hashish [OR: 1.01; 95% CI: 1.01-1.01], were observed to have an association with higher odds of stroke than the population without a history of using these illicit drugs. Conclusion Among respondents with a history of stroke, the use of cocaine was most prevalent, followed by marijuana/hashish, heroin, e-cigarettes, and injecting illegal drugs. The odds of having a stroke were two times higher in the population using an e-cigarette and higher among those using heroin, cocaine, and marijuana/ hashish. The Government should plan policy changes to treat SUDs in the USA, which could help reduce the stroke burden. Recall that bias and geographic variations in response rate by participants of the study were the limitations of our survey-based study.
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BACKGROUND: We assessed the compliance with self-collection of stool smears on Whatman® FTA® Elute Card (FTA Card) and detection of travellers' diarrhoea (TD)-associated pathogens by using a quantitative Polymerase Chain Reaction (PCR) assay [customized TaqMan® array card (TAC)] in a prospective, observational cohort of travellers. METHODS: Enrolled travellers documented symptoms on a travel diary and collected an FTA Card during a diarrhoeal episode, or at the end of travel if they remained asymptomatic. TAC testing was performed on FTA Cards from TD cases and 1:1 matched asymptomatic controls and 1:1 matched loose stool cases that did not meet TD criteria. Odds ratios were used to determine the association between detected pathogens and TD. RESULTS: Of 2456 travellers, 484 (19.7%) completed an illness diary and met TD criteria, and 257 (53.1%) collected an FTA Card during the TD episode. FTA Cards were stored for a median of 2 years at room temperature (IQR: 1-4 years) before extraction and testing. The overall TAC detection rate in TD cases was 58.8% (95% CI: 52.5-64.8). Enterotoxigenic Escherichia coli was the most common pathogen in TD cases (26.8%), and 3.5% of samples were positive for norovirus. The odds of detecting TD-associated pathogens in 231 matched cases and asymptomatic controls were 5.4 (95% CI: 3.6-8.1) and 2.0 (95% CI: 1.1-3.7) in 121 matched TD and loose stool cases (P < 0.05). Enteroaggregative E. coli was the most common pathogen detected in asymptomatic controls and loose stool cases. Detection of diarrhoeagenic E. coli, Shigella/enteroinvasive E. coli and Campylobacter spp. was significantly associated with TD. CONCLUSION: FTA Cards are a useful adjunct to traditional stool collection methods for evaluating the pathogen-specific epidemiology of TD in austere environments. Qualitative detection of pathogens was associated with TD. Measures to improve compliance and quality of FTA Card collection with decreased storage duration may further optimize detection.
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Diarrea , Escherichia coli Enterotoxigénica , Diarrea/diagnóstico , Diarrea/epidemiología , Heces , Humanos , Estudios Prospectivos , ViajeRESUMEN
The effect of a mainly polyunsaturated oil (soybean oil) and a mainly medium chain triglyceride oil (coconut oil) on the absorption of the phenolic antioxidant chlorogenic acid (5-caffeoylquinic acid) was investigated using 90 healthy volunteers. Serum concentrations and the absorbed percentages of chlorogenic acid of volunteers who received chlorogenic acid without oils (0.006 ± 0.001 mg/ml, 5.7 ± 0.2%), chlorogenic acid with soybean oil (0.012 ± 0.001 mg/ml, 11.8 ± 1.3%), and chlorogenic acid with coconut oil (0.067 ± 0.014 mg/ml, 65.6 ± 18.1%) were significantly different from each other (p < .05). There was a strong positive correlation between the increase in serum and plasma antioxidant capacity and the absorption of chlorogenic acid. The major fatty acid of each of soybean oil and coconut oil also improved the permeability of chlorogenic acid in Caco-2 cell monolayers. The results suggest that the tested edible oils may improve the nutritional value of chlorogenic acid-containing foods by improving the absorption of chlorogenic acid. PRACTICAL APPLICATIONS: Small polar antioxidants such as phenolic acids and flavonoids are poorly absorbed through the intestinal epithelium. Chlorogenic acid was used in the present study as a model for small polar phenolic antioxidants. According to the present study, soybean oil with mainly polyunsaturated fatty acids and coconut oil with mainly medium chain fatty acids improve the absorption of these antioxidants. These findings suggest that proper planning of diets or food supplements containing phenolic antioxidants with medium chain or polyunsaturated fatty acid-rich edible oils may enhance the nutritional benefits expected from phenolic antioxidants.
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BACKGROUND: The Relative Citation Ratio is a novel bibliometric tool that quantifies the impact of research articles. The objectives of this study were to identify the 100 obstetrics and gynecology articles with the highest relative citation ratios, evaluate how characteristics of these articles changed over time, and compare characteristics of these articles with top-cited obstetrics and gynecology articles. OBJECTIVE: We undertook a cross-sectional bibliometric study to examine the 100 obstetrics and gynecology articles with the highest relative citation ratios and the top 100 cited articles in the National Institutes of Health Open Citations Collection from 1980 to 2019. STUDY DESIGN: We identified every obstetrics and gynecology article published from 1980 to 2019 that was indexed in the National Institutes of Health Open Citations Collection. The top 100 articles with the highest relative citation ratios and the top 100 cited articles were selected for further review. Each article was evaluated using metrics of influence, translation, and other characteristics. We compared the top 100 articles with the highest relative citation ratios published from 1980 to 1999 versus 2000 to 2019 and characteristics of the top 100 articles with the highest relative citation ratios versus the top 100 top-cited articles (after excluding those on both lists). Means, standard deviations, and mean differences with corresponding 95% confidence intervals were calculated. Associations were expressed as relative risks (95% confidence interval). RESULTS: A total of 323,673 obstetrics and gynecology articles were published between 1980 and 2019. Among the top 100 articles with the highest relative citation ratios, most were observational studies (36%), reviews (26%), and consensus statements (21%). There were only 5 randomized clinical trials. Compared with the articles with the highest relative citation ratios published from 1980 to 1999, articles published from 2000 to 2019 were more likely about benign gynecology (relative risks, 1.3; 95% confidence interval, 0.6-2.8) and less likely about gynecology-oncology (relative risks, 0.6; 95% confidence interval, 0.2-1.9) and urogynecology (relative risks, 0.6; 95% confidence interval, 0.1-3.3). The articles after 2000 were more likely about systematic reviews (relative risks, 7.7; 95% confidence interval, 1.0-58.3) and consensus statements (relative risks, 5.1; 95% confidence intervals, 1.6-16.3) and were published as open access articles (relative risks, 1.3; 95% confidence interval, 0.9-2.0). There were 60 articles in common between the top 100 articles with the highest relative citation ratios and the top 100 cited articles. Compared with articles that were top cited (after excluding articles on both lists), articles with the highest relative citation ratios received fewer mean citations (266.9 [135.3] vs 514.3 [54.6]; mean differences, 247.4; 95% confidence interval, 201.5-293.3) but had higher numbers of citations per year (37.5 [4.1] vs 31.6 [8.1]; mean difference, -5.9; 95% confidence interval, -14.6 to -2.7). Compared with the articles with the highest relative citation ratios, top-cited articles were more likely to address gynecology topics (relative risk, 1.6; 95% confidence interval, 1.1-2.5), less likely to be randomized clinical trials (relative risk, 0.7; 95% confidence interval, 0.1-3.8), and less likely to be published as open access articles (relative risk, 0.52; 95% confidence interval, 0.31-0.86). CONCLUSION: The Relative Citation Ratio is a novel bibliometric tool that does not rely on absolute citation rates and provides unique insight into the dissemination of knowledge in obstetrics and gynecology. Nearly half of the influential obstetrics and gynecology articles identified with this metric would not have been recognized as citation classics by conventional bibliometric analysis.
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Ginecología , Obstetricia , Bibliometría , Estudios Transversales , PublicacionesRESUMEN
Adenovirus plays a significant role in respiratory tract disease in pediatric and adult patients. It has been linked to outbreaks and epidemics in various patient populations, resulting in considerable morbidity and mortality. In this article, we discuss the epidemiology, pathogenesis, respiratory tract illnesses and complications, and roles of potential treatment options. The role of the past oral adenovirus vaccine and the military implications of its withdrawal from routine use in military recruits is discussed as well.
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The increasing emergence of serious multidrug-resistant (MDR) Gram-negative infections has led to a new health-care crisis. These infections predominately include MDR Pseudomonas aeruginosa, extended-spectrum beta-lactamase-producing Enterobacteriaceae and MDR Acinetobacter baumannii. These organisms are present in a variety of clinical settings, but there is a distinct paucity of antibiotics to effectively treat these infections. The increasing use of broad-spectrum antibiotics and lack of good stewardship have contributed to the increase in these MDR organisms. This review focuses on the main MDR Gram-negative infections contributing to the current crisis in health care, their mechanisms of resistance and various treatment options for empiric therapy.
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Antibacterianos/farmacología , Infección Hospitalaria/tratamiento farmacológico , Infección Hospitalaria/microbiología , Farmacorresistencia Bacteriana Múltiple , Bacterias Aerobias Gramnegativas/efectos de los fármacos , Infecciones por Bacterias Gramnegativas/tratamiento farmacológico , Infecciones por Bacterias Gramnegativas/microbiología , Infecciones por Acinetobacter/tratamiento farmacológico , Infecciones por Acinetobacter/epidemiología , Infecciones por Acinetobacter/microbiología , Acinetobacter baumannii/efectos de los fármacos , Acinetobacter baumannii/enzimología , Acinetobacter baumannii/patogenicidad , Infección Hospitalaria/epidemiología , Bacterias Aerobias Gramnegativas/enzimología , Infecciones por Bacterias Gramnegativas/epidemiología , Infecciones por Bacterias Grampositivas/tratamiento farmacológico , Infecciones por Bacterias Grampositivas/microbiología , Humanos , Infecciones por Pseudomonas/tratamiento farmacológico , Infecciones por Pseudomonas/epidemiología , Infecciones por Pseudomonas/microbiología , Pseudomonas aeruginosa/efectos de los fármacos , Pseudomonas aeruginosa/enzimología , beta-Lactamasas/metabolismoRESUMEN
Necrobacillosis due to Fusobacterium necrophorum is an uncommon anaerobic infection. It has a wide range of presentations and commonly presents as Lemierre's syndrome. We present a case of necrobacillosis defined by F. necrophorum bacteremia with epidural and pararectal fluid collection without evidence of internal jugular vein thrombophlebitis.
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Infecciones por Fusobacterium/diagnóstico , Fusobacterium necrophorum/aislamiento & purificación , Sepsis/diagnóstico , Adolescente , Absceso Epidural/diagnóstico , Absceso Epidural/patología , Infecciones por Fusobacterium/microbiología , Cabeza/diagnóstico por imagen , Humanos , Masculino , Radiografía , Sepsis/complicaciones , Sepsis/microbiología , TomografíaRESUMEN
Bacteremia is an uncommon complication after polypectomy and colonoscopy. We report one of the first cases of Clostridium perfringens bacteremia after polypectomy. Our patient was a four years old boy with congenital polyposis, who underwent colonoscopy and polypectomy without complication. Approximately 12h later he developed a fever and tachycardia with no other clinical symptoms. His blood cultures grew out penicillin susceptible C. perfringens and Enterococcus faecalis. He responded to antibiotic therapy and remained clinically asymptomatic for the duration of his course. There are a few reports of bacteremia after routine polypectomy, but no reported cases of C. perfringens bacteremia in the pediatric population. Clostridial sp. bacteremia can be fatal with devastating consequences if appropriate antibiotics and/or surgical debridement are delayed. Polymicrobial infection, as illustrated in our patient, is also common and can be a poor prognostic risk factor. Therefore, for patients with a history of polypectomy and new onset fever, anaerobic infections should be considered and empiric antibiotic therapy should include coverage for these organisms.
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Bacteriemia/diagnóstico , Infecciones por Clostridium/diagnóstico , Clostridium perfringens/aislamiento & purificación , Colonoscopía/efectos adversos , Pólipos Intestinales/cirugía , Antibacterianos/uso terapéutico , Bacteriemia/tratamiento farmacológico , Bacteriemia/microbiología , Sangre/microbiología , Preescolar , Infecciones por Clostridium/tratamiento farmacológico , Infecciones por Clostridium/microbiología , Enterococcus faecalis/aislamiento & purificación , Humanos , MasculinoRESUMEN
Cardamom has long been used as a food flavouring agent and in ayurvedic medicines for mouth ulcers, digestive problems and even depression. Extensive occurrence of pests and diseases adversely affect its cultivation and result in substantial reductions in total production and productivity. Numerous studies revealed the significant role of miRNAs in plant biotic stress responses. In the current study, miRNA profiling of cultivar and wild cardamom genotypes was performed using an Ion Proton sequencer. We identified 161 potential miRNAs representing 42 families, including monocot/tissue-specific and 14 novel miRNAs in both genotypes. Significant differences in miRNA family abundance between the libraries were observed in read frequencies. A total of 19 miRNAs (from known miRNAs) displayed a twofold difference in expression between wild and cultivar genotypes. We found 1168 unique potential targets for 40 known miRNA families in wild and 1025 potential targets for 42 known miRNA families in cultivar genotypes. The differential expression analysis revealed that most miRNAs identified were highly expressed in cultivars and, furthermore, lower expression of miR169 and higher expression of miR529 in wild cardamom proved evidence that wild genotypes have stronger drought stress tolerance and floral development than cultivars. Potential targets predicted for the newly identified miRNAs from the miRNA libraries of wild and cultivar cardamom genotypes involved in metabolic and developmental processes and in response to various stimuli. qRT-PCR confirmed miRNAs were differentially expressed between wild and cultivar genotypes. Furthermore, four target genes were validated experimentally to confirm miRNA-mRNA target pairing using RNA ligase-mediated 5' Rapid Amplification of cDNA Ends (5'RLM-RACE) PCR.
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Elettaria/genética , Elettaria/inmunología , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , MicroARNs/metabolismo , Desarrollo de la Planta/genética , Estrés Fisiológico/genética , Secuencia de Bases , Secuencia Conservada/genética , Perfilación de la Expresión Génica , Biblioteca de Genes , Ontología de Genes , Genotipo , MicroARNs/genética , Reproducibilidad de los Resultados , Análisis de Secuencia de ARNRESUMEN
BACKGROUND: Intravenous contrast-enhanced imaging is invaluable in diagnosing pathology following liver transplantation. Given the potential risk of contrast nephropathy associated with iodinated computed tomography contrast, alternate contrast modalities need to be examined, especially in the setting of renal insufficiency. The purpose of this study was to examine the renal safety of MRI with gadolinium following liver transplantation. METHODS: The study involved a retrospective analysis of 549 cases of abdominal MRI with low-dose gadobenate dimeglumine in liver transplant recipients at a single center. For each case, serum creatinine values before and after the MRI were compared. In addition, cases were analyzed for the development of nephrogenic systemic fibrosis. RESULTS: Pre-MRI creatinine values ranged from 0.32 to 6.57 mg/dL (median, 1.28 g/dL), with 191 cases having values ≥1.5 mg/dL (median, 1.86 g/dL). A comparison of the pre- and post-MRI creatinine values showed no significant difference, including those patients with pre-MRI values ≥1.5 mg/dL (mean change of -0.04 [95% confidence interval, -0.07 to -0.01; P = 0.004]). No cases of nephrogenic systemic fibrosis were noted. CONCLUSIONS: Our findings suggest that, irrespective of baseline renal function, MRI with gadobenate dimeglumine is a nonnephrotoxic imaging modality in liver transplant recipients. Importantly, this intravenous contrast-enhanced imaging modality can be considered in those posttransplant patients who have a contraindication to computed tomography contrast due to renal insufficiency.
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Lesión Renal Aguda/inducido químicamente , Medios de Contraste/efectos adversos , Trasplante de Hígado/efectos adversos , Imagen por Resonancia Magnética/efectos adversos , Meglumina/análogos & derivados , Dermopatía Fibrosante Nefrogénica/inducido químicamente , Compuestos Organometálicos/efectos adversos , Complicaciones Posoperatorias/diagnóstico por imagen , Lesión Renal Aguda/diagnóstico , Lesión Renal Aguda/epidemiología , Administración Intravenosa , Adulto , Anciano , Biomarcadores/sangre , Medios de Contraste/administración & dosificación , Creatinina/sangre , Femenino , Georgia/epidemiología , Humanos , Incidencia , Masculino , Meglumina/administración & dosificación , Meglumina/efectos adversos , Persona de Mediana Edad , Dermopatía Fibrosante Nefrogénica/diagnóstico , Dermopatía Fibrosante Nefrogénica/epidemiología , Compuestos Organometálicos/administración & dosificación , Complicaciones Posoperatorias/epidemiología , Insuficiencia Renal/diagnóstico , Insuficiencia Renal/epidemiología , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Factores de TiempoRESUMEN
Elettaria cardamomum (L.) Maton, known as 'queen of spices, is a perennial herbaceous monocot of the family Zingiberaceae, native to southern India. Cardamom is an economically valuable spice crop and used widely in culinary and medicinal purposes. In the present study, using Ion Proton RNA sequencing technology, we performed transcriptome sequencing and de novo transcriptome assembly of a wild and five cultivar genotypes of cardamom. RNA-seq generated a total of 22,811,983 (92 base) and 24,889,197 (75 base) raw reads accounting for approximately 8.21GB and 7.65GB of sequence data for wild and cultivar genotypes of cardamom respectively. The raw data were submitted to SRA database of NCBI under the accession numbers SRX1141272 (wild) and SRX1141276 (cultivars). The raw reads were quality filtered and assembled using MIRA assembler resulted with 112,208 and 264,161contigs having N50 value 616 and 664 for wild and cultivar cardamom respectively. The assembled unigenes were functionally annotated using several databases including PlantCyc for pathway annotation. This work represents the first report on cardamom transcriptome sequencing. In order to generate a comprehensive reference transcriptome, we further assembled the raw reads of wild and cultivar genotypes which might enrich the plant transcriptome database and trigger advanced research in cardamom genomics.
RESUMEN
Elettaria cardamomum (L.) Maton, or small cardamom referred as 'queen of spices', is a perennial herbaceous rhizomatous monocot of the family Zingiberaceae. Cardamom seeds and fruits are the economically significant parts and effectively used as a traditional medicine, food additive and flavoring agent. In the present study, using Ion Proton next generation sequencing technology we performed the small RNA sequencing, conserved and novel miRNA predictions of a wild and five cultivar genotypes of cardamom. Small RNA sequencing generated a total of 5,451,328 and 2,756,250 raw reads for wild and cultivar cardamom respectively. The raw data was submitted to SRA database of NCBI under the accession numbers and SRX2273863 (wild) and SRX2273862 (cultivars). The raw reads were quality filtered and predicted conserved and novel miRNAs for wild and cultivar cardamom. The predicted miRNAs, miRNA-targets and functional annotations might provide valuable insights into differences between wild progenitor and cultivated cardamom.
RESUMEN
Myofibromatosis (MFS) was recognized as a distinct form of childhood fibromatosis. Infantile myofibromatosis (IMF) is now identified as a solitary or multicentric tumor that predominantly occurs in neonates and infants. The adult counterpart of IMF, though of rare occurrence, is identified and is known as MFS. Morphological diagnosis of MFS is made by histopathological examination of the biopsy or surgically excised mass and confirmed on the basis of specific immunoprofile. We report a case of multicentric MFS occurring in an adolescent in whom diagnosis was suggested on the basis of fine needle aspiration cytology (FNAC) that avoided surgical excision of multiple nodules. The diagnosis was later confirmed on histopathological study and contributory immunohistochemical markers. Details of the clinical features and cytological diagnosis of the case are provided to diminish the paucity of available literature on FNAC diagnosis of the rare disease.
RESUMEN
OBJECTIVE: In Alzheimer's disease, antipsychotic medications are often used for a period, with relief of symptoms, and then discontinued, after which relapse may occur. The authors sought to determine which neuropsychiatric symptoms predict relapse. METHOD: In the Antipsychotic Discontinuation in Alzheimer's Disease trial, 180 patients with Alzheimer's disease and symptoms of agitation or psychosis were treated with risperidone for 16 weeks, after which patients who responded (N=110) were randomly assigned to continue risperidone for 32 weeks, to continue risperidone for 16 weeks followed by switch to placebo for 16 weeks, or to receive placebo for 32 weeks. As reported previously, discontinuation of risperidone was associated with a two- to fourfold increased risk of relapse over 16-32 weeks. In planned post hoc analyses, the authors examined associations between the 12 symptom domains in the Neuropsychiatric Inventory (NPI) and relapse in the first 16-week phase after randomization. RESULTS: Compared with patients with mild hallucinations or no hallucinations, patients with severe hallucinations as a presenting symptom at baseline had a higher likelihood of relapse (hazard ratio=2.96, 95% CI=1.52, 5.76). This effect was present for the subgroup with auditory hallucinations, but not the subgroup with visual hallucinations. Among patients with baseline hallucinations, 13 of 17 (76.5%) who discontinued risperidone relapsed, compared with 10 of 26 (38.5%) who continued risperidone (p<0.02). This group difference remained significant for severe (77.8%) compared with mild (36%) hallucinations. NPI domain scores after the initial open-treatment phase were not associated with relapse. CONCLUSIONS: Patients with severe baseline hallucinations were more likely to relapse after randomization, and the presence of baseline hallucinations was associated with a higher risk of relapse after discontinuation of risperidone compared with continued risperidone treatment. For patients with hallucinations, particularly auditory hallucinations, antipsychotic discontinuation should be approached cautiously because of high relapse risk.