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1.
Oral Dis ; 2024 Apr 09.
Artículo en Inglés | MEDLINE | ID: mdl-38591808

RESUMEN

AIMS: To evaluate osteoradionecrosis (ORN) incidence in a cohort of patients undergoing tooth extraction (TE) before radiotherapy (RT) for head and neck cancers. METHODS: The study protocol was approved by the Ethics Committee of Università Cattolica del Sacro Cuore (ID-2132) and registered at clinicaltrials.gov (ID: NCT04009161). TE was performed in case of signs of pericoronitis, periapical lesions, restorative impossibility, severe periodontitis. ORN was defined as exposed bone at an unhealed post-extraction socket in the absence of oncological recurrence. The RT plans were reviewed, and each post-extractive socket was contoured to calculate the received radiation dose. RESULTS: In total, 156 patients with 610 TE were enrolled. The mean follow-up was 567 days. ORN was diagnosed in four patients (2.6% of patients and 0.7% of TE). Need for osteotomy and radiation dose at the extraction site were associated with ORN (OR for osteotomy: 21.9, 95% CI: 2.17-222.2, p = 0.009; OR for RT dose: 1.1, 95% CI: 1-1.15, p = 0.05). CONCLUSIONS: TE appears to be a significant risk factor for ORN, particularly when osteotomy is required, and post-extraction sockets receive a high RT dosage. This study proposes a decision-making algorithm for TE and outlines a straightforward surgical protocol.

2.
Gynecol Oncol ; 157(1): 46-54, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32008792

RESUMEN

OBJECTIVE: Low-grade serous carcinoma (LGSC) is a rare histotype of ovarian cancer with a unique disease course. Little data exist regarding the influence of sociodemographic factors on diagnosis and outcomes in this disease. Our objective was to evaluate the associations between these factors and the clinical characteristics, treatment approaches, and survival in LGSC. METHODS: The National Cancer Database (NCDB) was queried for data between 2004 and 2015 on patients with LGSC. LGSC was inclusive of invasive, grade 1, serous carcinoma of the ovary, fallopian tube, or peritoneum. Patient demographics, insurance status, disease characteristics, treatment approach, and survival were evaluated. ANOVA, Chi Square, Kaplan-Meier, and Cox regression were used in the analysis. RESULTS: 3221 patients with LGSC were evaluated (89.5% White, 6.2% Black; 7.2% Hispanic, 92.8% non-Hispanic). Compared to Whites, Blacks were diagnosed younger (50.4 vs. 55.9 years, p < 0.01), received less chemotherapy (61.8% vs 67.0%, p = 0.04), and had less CA-125 elevation (OR 4.14 [1.26-13.57], p = 0.02). Compared to non-Hispanics, Hispanics were younger (49.5 vs. 55.8 years, p < 0.01) and received less chemotherapy (55% vs 67%, p < 0.001). In contrast to private insurance, government insurance was associated with a higher 30-day mortality (1.5% vs 0.01%, p < 0.001). Race/ethnicity were not predictive of OS, while older age (HR 1.013 [1.002-1.024], p = 0.03), advanced stage (HR 3.09 [2.15-4.43], p < 0.001), and government insurance (HR 2.33 [1.65-3.30], p < 0.001) were all independently associated with worse OS. CONCLUSIONS: Significant differences exist in the clinical characteristics, treatments, and outcomes of LGSC by sociodemographics, with Blacks and Hispanics being diagnosed younger and receiving less chemotherapy. Age, stage, and insurance status were predictive of overall survival.


Asunto(s)
Cistadenocarcinoma Seroso/etnología , Cistadenocarcinoma Seroso/terapia , Disparidades en Atención de Salud/etnología , Neoplasias Ováricas/etnología , Neoplasias Ováricas/terapia , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Población Negra/estadística & datos numéricos , Cistadenocarcinoma Seroso/economía , Cistadenocarcinoma Seroso/patología , Femenino , Disparidades en Atención de Salud/economía , Disparidades en Atención de Salud/estadística & datos numéricos , Hispánicos o Latinos/estadística & datos numéricos , Humanos , Cobertura del Seguro , Persona de Mediana Edad , Programas Nacionales de Salud , Neoplasias Ováricas/economía , Neoplasias Ováricas/patología , Tasa de Supervivencia , Estados Unidos/epidemiología , Población Blanca/estadística & datos numéricos , Adulto Joven
3.
Rhinology ; 58(3): 233-240, 2020 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-31904029

RESUMEN

BACKGROUND: the primary end point of our study was to define risk factors and identify the underlying conditions that may have led to the abuse of vasoconstrictors in rhinitis medicamentosa. Moreover, we analysed factors that may influence the vasoconstrictors discontinuation. METHODOLOGY: this was a prospective case-control observational study. Cases and controls were evaluated at the baseline in order define factors that may have influenced onset of rhinitis medicamentosa. They were re-evaluated at 3 months to verify symptoms control and drug discontinuation. Finally, they underwent a phone call questionnaire after 12 months regarding drug discontinuation. A potential bias of our study is that evaluating discontinuation we included subjects treated differently according to the main diagnosis. RESULTS: patients with rhinitis medicamentosa were more frequently smokers than controls, they had higher mean HAMA scores and positive psychiatric diseases history. Additionally, we frequently detected a local inflammation at nasal cytology in patients with rhinitis medicamentosa. A significant improvement in all nasal symptoms scores was observed in cases and controls but 29.4% of cases did not discontinue the vasoconstrictors. Two major factors negatively influenced discontinuation: positive nasal cytology and pathological HAMA score. CONCLUSION: we observed that positive local inflammation, anxiety and smoking habit correlate positively with vasoconstrictors abuse. In addition, we demonstrated that anxiety and local inflammation were the most important factors impairing drug discontinuation.


Asunto(s)
Rinitis , Estudios de Casos y Controles , Humanos , Descongestionantes Nasales/efectos adversos , Mucosa Nasal , Estudios Prospectivos , Rinitis/inducido químicamente , Rinitis/tratamiento farmacológico , Rinitis/epidemiología
4.
Clin Otolaryngol ; 43(5): 1260-1265, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-29768730

RESUMEN

OBJECTIVE: The objective of the study was to compare the biofilm growing pattern and its morphological extent on silicone and a teflon-like material using a sonication process and a Scanning Electron Microscope (SEM). DESIGN: A prospective cohort study and a laboratory study. SETTING: Otolaryngology -Head and Neck surgery Department and the Microbiology Institute. PARTICIPANTS: The participants included fifteen laryngectomised patients with phonatory prostheses, which were removed because of device failure, and two different kinds of phonatory prostheses from the laboratory (Provox 2 and ActiValve) that were artificially colonised by Candida albicans. MAIN OUTCOME MEASURES: Tracheo-oesophageal puncture (TEP) is currently considered the gold standard for post-laryngectomy voice rehabilitation. "Leakage" represents the most common cause of substitution and is generated by biofilm colonisation of the prosthesis by mixed mycotic and bacterial agents. New biomaterials have been developed that are deemed to be more resistant to the colonisation of micro-organisms and material deformation. RESULTS: The devices showed colonisation by mixed bacterial flora (Staphylococci 13%, Streptococci 9%, and Haemophilus influenzae 5%) and by yeasts (Candida albicans 12%). Moreover, we observed a different distribution of biofilm layers in Provox ActiValve (22.56%) compared to Provox 2 (56.82%) after experimental colonisation by the previously isolated Candida strain. CONCLUSION: Resident microbiological species from the upper airways unavoidably colonise the polymer surfaces, and no strategies have been effective except for the manipulation of the chemical-physical properties of the device's polymer. Our study confirms that Provox ActiValve, which is made with a fluoroplastic material (teflon-like), is less subject to in vitro colonisation by Candida, and thus showed a higher clinical resistance to biofilm and a longer lifespan. The sonication seems to significantly improve the knowledge of bacterial and mycotic flora in biofilm colonisation. The design of a device for the daily cleaning capable to reach and brush the oesophageal flange of the prosthesis preserving the valve mechanism could represent a practical and simple help in this still unsolved problem.


Asunto(s)
Biopelículas , Candida albicans/aislamiento & purificación , Haemophilus influenzae/aislamiento & purificación , Laringe Artificial/microbiología , Staphylococcus/aislamiento & purificación , Streptococcus/aislamiento & purificación , Estudios de Cohortes , Recuento de Colonia Microbiana , Humanos , Laringectomía , Microscopía Electrónica de Rastreo , Politetrafluoroetileno , Diseño de Prótesis , Falla de Prótesis , Siliconas , Sonicación
5.
Lupus ; 26(5): 552-558, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28394231

RESUMEN

Background Systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome (APS) are autoimmune diseases that affect women of childbearing age. Maternal IgG antiphospholipid antibodies (aPL) can cross the placenta during pregnancy and theoretically reach the fetal brain. Some studies showed an increased number of learning disabilities in these children. Objectives To evaluate the long-term neurodevelopmental outcome of 40 children (median age 7.4 years) born to mothers with SLE and/or APS carrying positive IgG aPL during the third trimester of pregnancy. Methods Children were checked for neurological physical exam and intellectual/cognitive functioning by the Wechsler scale for corrected age. We submitted to the mothers the Child Behavior CheckList (CBCL) and a homemade set of questions created by pediatric neurologists. Results In all children neurological physical exam and intelligence levels were found to be normal. A cognitive impairment or a discrepant cognitive profile was found in 3 (7%) and 11 (28%) children, respectively. Learning disabilities were diagnosed in 3 children (19% of school-age children), all born to mothers with triple aPL positivity. A history of epilepsy was shown in four children (10%). CONCLUSIONS: Children born to women with SLE and/or APS may need a long-term follow-up focusing on milestones of neurodevelopment in order to detect and correct any alteration as early as possible.


Asunto(s)
Antiinflamatorios no Esteroideos/efectos adversos , Síndrome Antifosfolípido/complicaciones , Lupus Eritematoso Sistémico/tratamiento farmacológico , Efectos Tardíos de la Exposición Prenatal/psicología , Adolescente , Antiinflamatorios no Esteroideos/uso terapéutico , Anticuerpos Antifosfolípidos/metabolismo , Niño , Preescolar , Disfunción Cognitiva/epidemiología , Epilepsia/epidemiología , Femenino , Humanos , Discapacidades para el Aprendizaje/epidemiología , Lupus Eritematoso Sistémico/complicaciones , Masculino , Embarazo , Tercer Trimestre del Embarazo/inmunología , Efectos Tardíos de la Exposición Prenatal/etiología , Escalas de Wechsler
6.
Clin Otolaryngol ; 42(4): 837-843, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28004533

RESUMEN

OBJECTIVES: To investigate in Parkinson's disease-affected patients a correlation between hyposmia and gastrointestinal dysfunction and their possible identical etiopathogenesis. DESIGN: Retrospective cohort study. SETTING: ENT and neurology departments (Gemelli Hospital, Rome, Italy). PARTICIPANTS: A total of 78 patients with diagnosis of PD according to the UK Brain Bank criteria. INCLUSION CRITERIA: informed consent and olfactory testing executed; exclusion criteria: signs of dementia according to the DSM-IV criteria; Mini Mental State Examination score ≤26; head trauma; central neurological disorders, nasal or systemic diseases potentially affecting olfactory function. Motor condition was assessed by means of Hoehn and Yahr staging and by section III of the Unified PD Rating Scale, performed off and on medications. MAIN OUTCOME MEASURES: The patients underwent olfactory evaluation (TDI score), after rhinomanometry with nasal decongestion. A total of 25 non-motor symptoms were evaluated through an interview. RESULTS: Olfactory dysfunction was objectively found in 91.0% of patients, a percentage higher than the subjective hyposmia reported (55.1%) P = 0.0001. Seven patients (9.0%) were normosmic, 49 (62.8%) hyposmic and 22 (28.2%) anosmic. Subjective hyposmia, constipation, bloating and dyspepsia differed across groups, being higher in anosmic and hyposmic ones than in the normosmic group. P value was ≤0.05 for each symptom. Despite the original results, this study has the limitation of being based on subjective ratings by a relatively limited group of patients. CONCLUSIONS: Hyposmia and gastrointestinal symptoms are correlated, and this would support a possible common origin; the CNS could be reached through two different pathways, both starting in the peripheral nervous system.


Asunto(s)
Olfatometría , Enfermedad de Parkinson/fisiopatología , Anciano , Femenino , Humanos , Entrevistas como Asunto , Masculino , Trastornos del Olfato/etiología , Enfermedad de Parkinson/complicaciones , Estudios Retrospectivos
7.
J Dairy Sci ; 97(7): 4354-66, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24835965

RESUMEN

The DairyNZ whole-farm model (WFM; DairyNZ, Hamilton, New Zealand) consists of a framework that links component models for animal, pastures, crops, and soils. The model was developed to assist with analysis and design of pasture-based farm systems. New (this work) and revised (e.g., cow, pasture, crops) component models can be added to the WFM, keeping the model flexible and up to date. Nevertheless, the WFM does not account for plant-animal relationships determining herbage-depletion dynamics. The user has to preset the maximum allowable level of herbage depletion [i.e., postgrazing herbage mass (residuals)] throughout the year. Because residuals have a direct effect on herbage regrowth, the WFM in its current form does not dynamically simulate the effect of grazing pressure on herbage depletion and consequent effect on herbage regrowth. The management of grazing pressure is a key component of pasture-based dairy systems. Thus, the main objective of the present work was to develop a new version of the WFM able to predict residuals, and thereby simulate related effects of grazing pressure dynamically at the farm scale. This objective was accomplished by incorporating a new component model into the WFM. This model represents plant-animal relationships, for example sward structure and herbage intake rate, and resulting level of herbage depletion. The sensitivity of the new version of the WFM was evaluated and then the new WFM was tested against an experimental data set previously used to evaluate the WFM and to illustrate the adequacy and improvement of the model development. Key outputs variables of the new version pertinent to this work (milk production, herbage dry matter intake, intake rate, harvesting efficiency, and residuals) responded acceptably to a range of input variables. The relative prediction errors for monthly and mean annual residual predictions were 20 and 5%, respectively. Monthly predictions of residuals had a line bias (1.5%), with a proportion of square root of mean square prediction error (RMSPE) due to random error of 97.5%. Predicted monthly herbage growth rates had a line bias of 2%, a proportion of RMSPE due to random error of 96%, and a concordance correlation coefficient of 0.87. Annual herbage production was predicted with an RMSPE of 531 (kg of herbage dry matter/ha per year), a line bias of 11%, a proportion of RMSPE due to random error of 80%, and relative prediction errors of 2%. Annual herbage dry matter intake per cow and hectare, both per year, were predicted with RMSPE, relative prediction error, and concordance correlation coefficient of 169 and 692kg of dry matter, 3 and 4%, and 0.91 and 0.87, respectively. These results indicate that predictions of the new WFM are relatively accurate and precise, with a conclusion that incorporating a plant-animal relationship model into the WFM allows for dynamic predictions of residuals and more realistic simulations of the effect of grazing pressure on herbage production and intake at the farm level without the intervention from the user.


Asunto(s)
Bovinos/fisiología , Industria Lechera/métodos , Alimentación Animal , Crianza de Animales Domésticos , Animales , Femenino , Nueva Zelanda , Plantas
8.
Seizure ; 118: 47-52, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38636356

RESUMEN

PURPOSE: The aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology. METHODS: We carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset. RESULTS: Our sample is composed of 56 patients. Among the children with epilepsy onset under two years of age (11), all were still on therapy after three and six years of follow-up, and 64 % of them required polytherapy. Among patients with epilepsy onset between two and three years of age (24), 87 % were still on therapy after three years of follow-up and 68 % after six years of follow-up; 46 % of these subjects required polytherapy. Among patients with epilepsy onset between three and four years of age (21), 89 % were still on therapy after three years of follow-up and 38 % after six years of follow-up; 38 % of them required polytherapy. CONCLUSIONS: We observe that patients with an earlier epilepsy onset have a worse outcome and a lower drug sensitivity. This may allow to predict in which cases it would be appropriate to maintain antiseizure therapy for a prolonged period.


Asunto(s)
Edad de Inicio , Anticonvulsivantes , Epilepsia Tipo Ausencia , Humanos , Epilepsia Tipo Ausencia/tratamiento farmacológico , Epilepsia Tipo Ausencia/epidemiología , Epilepsia Tipo Ausencia/fisiopatología , Femenino , Masculino , Preescolar , Estudios Retrospectivos , Anticonvulsivantes/uso terapéutico , Lactante , Electroencefalografía , Resultado del Tratamiento , Niño , Estudios de Seguimiento
9.
Br J Cancer ; 108(5): 1157-62, 2013 Mar 19.
Artículo en Inglés | MEDLINE | ID: mdl-23403821

RESUMEN

BACKGROUND: Human papillomavirus 16 infection has been proven to be associated with oropharyngeal squamous cell carcinomas (SCCs) and is probably the main reason of the reported increase in the incidence. The role of high-risk (HR) HPV for carcinogenesis of other sites in the head and neck awaits confirmation. With the aim to evaluate the prevalence of HPV infection and the reliability of different diagnostic tools in SCCs of different sites, 109 consecutive untreated head and neck SCCs were enrolled, and fresh tumour samples collected. METHODS: Human papillomavirus DNA was detected by Digene Hybrid Capture 2 (HC2). Human papillomavirus E6 and E7 mRNA were detected by NucliSENS EasyQ HPVv1. P16 expression was evaluated by immunohistochemistry. RESULTS: In all, 12.84% of cases were infected by HR genotypes and 1.84% by low-risk genotypes. Human papillomavirus 16 accounted for 87% of HR infections. The overall agreement between DNA and RNA detection is 99.1%. Although p16 expression clearly correlates with HPV infection (P=0.0051), the inter-rater agreement is poor (k=0.27). The oropharynx showed the highest HR HPV infection rate (47.6%) and was also the only site in which p16 immunohistochemistry revealed to be a fair, but not excellent, diagnostic assay (κ=0.61). CONCLUSION: The prognostic role of HR HPV infection in oropharyngeal oncology, with its potential clinical applications, underscores the need for a consensus on the most appropriate detection methods. The present results suggest that viral mRNA detection could be the standard for fresh samples, whereas DNA detection could be routinely used in formalin-fixed, paraffin-embedded samples.


Asunto(s)
Carcinoma de Células Escamosas/virología , Inhibidor p16 de la Quinasa Dependiente de Ciclina/análisis , Neoplasias de Cabeza y Cuello/virología , Infecciones por Papillomavirus/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Escamosas/metabolismo , Femenino , Neoplasias de Cabeza y Cuello/metabolismo , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Neoplasias Orofaríngeas/virología , Papillomaviridae/aislamiento & purificación , Prevalencia , Pronóstico
10.
Lupus ; 22(10): 1064-9, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23918923

RESUMEN

Aicardi-Goutières syndrome (AGS) is a rare genetic encephalopathy characterized by neurological and extraneurological involvement. A clinical overlap between AGS and systemic lupus erythematosus (SLE) has been reported. We describe an AGS patient who developed autoimmune manifestations: thyroiditis, cANCA positivity, antiphospholipid antibodies and cerebral ischemia. This first description of antiphospholipid syndrome in a TREX1-mutated patient further expands the clinical spectrum of AGS. Although the clinical overlap with SLE may indicate common pathogenic mechanisms, the autoimmune manifestations in AGS are so extensive that we suggest they should be considered a clinical feature of the disease, rather than a sign of coexistent SLE.


Asunto(s)
Enfermedades Autoinmunes del Sistema Nervioso/inmunología , Exodesoxirribonucleasas/genética , Sistema Inmunológico/fisiología , Mutación , Malformaciones del Sistema Nervioso/inmunología , Fosfoproteínas/genética , Enfermedades Autoinmunes del Sistema Nervioso/genética , Preescolar , Humanos , Lupus Eritematoso Sistémico/inmunología , Masculino , Malformaciones del Sistema Nervioso/genética
11.
Nat Genet ; 12(1): 31-7, 1996 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-8528247

RESUMEN

Non-insulin dependent diabetes mellitus (NIDDM) is a major public health problem, but its aetiology remains poorly understood. We have performed a comprehensive study of the genetic basis of diabetes in the Goto-Kakizaki (GK) rat, the most widely used animal model of non-obese NIDDM. The genetic dissection of NIDDM using this model has allowed us to map three independent loci involved in the disease. In addition, we identify a major factor affecting body weight, but not glucose tolerance, on chromosome 7 and map a further 10 regions that are suggestive for linkage. We conclude that NIDDM is polygenic and fasting hyperglycaemia and postprandial hyperglycaemia clearly have distinct genetic bases.


Asunto(s)
Diabetes Mellitus Tipo 2/genética , Ratas Mutantes/genética , Animales , Secuencia de Bases , Peso Corporal , Mapeo Cromosómico , Cartilla de ADN/química , Modelos Animales de Enfermedad , Ayuno , Femenino , Ligamiento Genético , Glucosa/metabolismo , Hiperglucemia/genética , Insulina/genética , Masculino , Datos de Secuencia Molecular , Ratas , Ratas Endogámicas F344
12.
Pol J Vet Sci ; 15(2): 373-8, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22844717

RESUMEN

Histophilus somni is an opportunistic pathogen causing respiratory, genitourinary and generalized infections in cattle. An important virulence factor is its ability to produce a biofilm. The aim of this work was to confirm that H. somni Hsp60 (Gro-EL) is a constituent of the biofilm produced by this bacterium in vitro and to check whether or not the presence of a specific antibody within the culture medium can inhibit biofilm production. Biofilm production by H. somni cultured in vitro was confirmed by crystalline violet staining. The presence of Hsp60 in the biofilm was confirmed by using specific antibodies produced in a mouse and goat hyperimmunized with H. somni recombinant Hsp60 (rHsp60). Large complexes of biofilm stained with Hsp60 antibodies were microscopically detected. This indicates that the Hsp60 protein is a common constituent of the biofilm produced by H. somni in vitro. In a second experiment, mouse serum containing anti-H. somni rHsp60 antibodies was added to an H. somni culture. It was found that the presence of anti-rHsp60 antibodies in the culture medium inhibited biofilm production in vitro. Only small biofilm particles were seen in the presence of the specific antibody, whereas in control cultures (without specific antiserum) large biofilm complexes were produced. The results indicate that antibodies specific to Hsp60 may be useful for preventing H. somni biofilm formation in vitro. If this also occurs in vivo, it may be helpful for eradicating H. somni infection in cattle through the elimination of carriers. Further in vivo studies are needed to confirm this idea.


Asunto(s)
Anticuerpos Antibacterianos/farmacología , Biopelículas/efectos de los fármacos , Chaperonina 60/inmunología , Pasteurellaceae/inmunología , Proteínas Recombinantes/farmacología , Animales , Especificidad de Anticuerpos , Proteínas Bacterianas/genética , Proteínas Bacterianas/inmunología , Proteínas Bacterianas/metabolismo , Biopelículas/crecimiento & desarrollo , Regulación Bacteriana de la Expresión Génica/fisiología , Ratones , Pasteurellaceae/fisiología
13.
Mutat Res ; 717(1-2): 99-108, 2011 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-21524657

RESUMEN

Intracellular RNAses are involved in various functions, including microRNA maturation and turnover. Mutations occurring in genes encoding RNAses cause Aicardi-Goutiéres syndrome (AGS). AGS mutations silence RNAse activity, thus inducing accumulation of endogenous RNAs, mainly consisting of short RNAs and microRNAs. Overload of intracellular RNA triggers Toll like receptor-dependent interferon-alpha production in the brain, which in turn activates neurotoxic lymphocytes and inhibits angiogenesis thus inducing the typical clinical phenotype of AGS. However, these pathogenic mechanisms are attenuated after three years of age by the endogenous production of DNAJP58IPK and Cystatin F, which arrest AGS progression. Because RNAses are involved in microRNA turnover, we evaluated the expression of 957 microRNAs in lymphocytes from AGS patients and control patients. Our results indicate that microRNA overload occurs in AGS patients. This upregulation inhibits microRNA turnover impeding the synthesis of the novel microRNAs required for the differentiation and myelination of the brain during the initial period of postnatal life. These pathogenic mechanisms result in AGS, a neurological syndrome characterized by irritability, mild hyperpyrexia, pyramidal and extrapyramidal signs, and spastic-dystonic tetraplegia. Typical cerebrospinal fluid alterations include lymphocytosis and elevated interferon-alpha levels. Brain imaging demonstrates cerebral calcifications, white matter abnormalities, and progressive cerebral atrophy.Thus, evidence exists that mutations silencing intracellular RNases affect microRNA turnover resulting in the severe clinical consequences in the brain characterizing the clinical feature of AGS.


Asunto(s)
Enfermedades Autoinmunes del Sistema Nervioso/enzimología , Enfermedades Autoinmunes del Sistema Nervioso/genética , Isoenzimas/deficiencia , MicroARNs/metabolismo , Malformaciones del Sistema Nervioso/enzimología , Malformaciones del Sistema Nervioso/genética , Ribonucleasas/deficiencia , Animales , Enfermedades Autoinmunes del Sistema Nervioso/patología , Enfermedades Autoinmunes del Sistema Nervioso/fisiopatología , Niño , ADN/metabolismo , Femenino , Humanos , Isoenzimas/química , Isoenzimas/genética , Masculino , Modelos Moleculares , Malformaciones del Sistema Nervioso/patología , Malformaciones del Sistema Nervioso/fisiopatología , Estructura Terciaria de Proteína , ARN/metabolismo , Ribonucleasas/química , Ribonucleasas/genética
14.
Pol J Vet Sci ; 14(1): 145-6, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21528726

RESUMEN

The aim of the study was to optimize conditions for producing Salmonella Enteritidis recombinant heat shock protein 60 (rHsp60). Seven Escherichia coli host strains (Rosetta, Turner, C41, C43, Origami, BL21pLys, Rosetta pLys) were transformed by a recombinant plasmid containing Hsp60 gene from Salmonella Enteritidis, and then cultured and induced by isopropyl-beta-D-thiogalactopyranoside (IPTG). The highest S. Enteritidis rHsp60 yield was obtained using E. coli strain C41. Induction of this strain using IPTG allowed the yield 400 microg of S. Enteritidis Hsp60 protein/2L of culture, but by autoinduction the yield exceeded 800 microg/2L.


Asunto(s)
Chaperonina 60/metabolismo , Escherichia coli/metabolismo , Proteínas Recombinantes/metabolismo , Salmonella enteritidis/metabolismo , Chaperonina 60/genética , Escherichia coli/clasificación
15.
Animal ; 15(1): 100054, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33516031

RESUMEN

Conventional agriculture is specializing rapidly into the management of few monoculture crops, threatening crop diversity and questioning the sustainability of extensive cropping systems. The grazing of cover crops in integrated crop-livestock systems could be a feasible biologically based technology to restore crop diversity and mitigate ecological issues in cropping systems. However, there is limited evidence on plausible synergies or trade-offs for the practice, and about how grazing plans could affect the herbage production and services from cover crops. This work assessed the effects of cattle grazing on the primary and secondary production of annual ryegrass (Lolium multiflorum) in an integrated ryegrass-soybean rotation system. Specifically, the prediction for synergistic effects of cattle grazing on the ryegrass herbage production, residual crop cover and animal performance were tested in a 2-year (2014 and 2015) study comprising a randomized complete block design of four grazing intensity treatments, replicated three times. A no-cattle grazing treatment (NG), used as control, or continuous grazing with Holstein heifers (~220kg live weight) at targeted sward heights of 5, 10, 15 and 20cm (hereafter referred as G5, G10, G15 and G20, respectively) was applied to ryegrass plots. The herbage production and residual herbage cover of ryegrass, and the average daily gain (ADG, kg/day) and live weight gain per hectare (LWG, kg/ha) of heifers were analyzed by ANOVA (P<0.05) and compared by the TukeyHSD test (P<0.05). Regression models were used to estimate relationships between herbage production, animal performance and sward height. The herbage production was 60% higher (P<0.01) for the grazing treatments compared to NG. The residual herbage for G15 and G20 was not different than that for NG and increased linearly as sward heights increased, reaching highest values for G15 and G20. Maximum ADG was 1.10kg/day for ryegrass grazed at a 20.6cm height, whereas maximum LWG was 427kg/ha for ryegrass grazed to a 16.1cm height. The results support the hypothesis for synergistic effects of using annual ryegrass as a dual forage and service cover crop. Moderate grazing intensity to sward height of 12-18cm with continuous stocking led to optimized forage production and utilization by dairy heifers.


Asunto(s)
Ganado , Lolium , Alimentación Animal/análisis , Animales , Bovinos , Productos Agrícolas , Dieta , Femenino , Estaciones del Año
16.
Am J Med Genet A ; 152A(12): 3133-7, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21108397

RESUMEN

Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that evolved into West syndrome phenotype and epileptic encephalopathy. In both children, we have found a previously unreported missense mutation in exon 5 of ARX gene (c.1604T>A) resulting in the substitution of a leucine with a glutamine in the aminoacid sequence. The two mothers and the maternal grandmother carry the same mutation which segregates with the disease phenotype in the family. This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations.


Asunto(s)
Epilepsia/genética , Genes Homeobox , Proteínas de Homeodominio/genética , Mutación , Espasmos Infantiles/genética , Factores de Transcripción/genética , Secuencia de Bases , Exones , Familia , Femenino , Glutamina/metabolismo , Humanos , Recién Nacido , Masculino , Linaje , Fenotipo , Espasmos Infantiles/patología , Síndrome
17.
Clin Exp Rheumatol ; 28(5): 767-73, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20822715

RESUMEN

A chronic disease may have an adverse impact on patients' quality of life and on their relationship styles. If this occurs in a mother, the related emotional and physical distress can interfere with baby holding, impacting on the antenatal maternal-foetal attachment and on the upbringing and development of the baby. Ineffective holding leads to the persistence of a condition of 'vulnerability to stress' and the possible development of psychosomatic problems in the offspring. In this paper we present our experience and a review from the current literature on the psychological aspects of pregnancy and parenthood in women with rheumatic diseases (RD) and children's development. To ameliorate family global quality of life, different experts (the rheumatologist, the obstetric, the neonatologist, the psychologist and the neuropsychiatric experts) should cooperate in teamwork to keep the patients' needs integrated. In particular, the neuropsychiatric intervention might support the patients and their partners throughout the experience of pregnancy and parenthood and prevent the occurrence of psychopathologic traits.


Asunto(s)
Trastornos de la Conducta Infantil/terapia , Desarrollo Infantil , Responsabilidad Parental/psicología , Complicaciones del Embarazo/psicología , Enfermedades Reumáticas/psicología , Adaptación Psicológica , Adulto , Niño , Trastornos de la Conducta Infantil/etiología , Trastornos de la Conducta Infantil/psicología , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Conducta Materna , Pruebas Neuropsicológicas , Embarazo , Calidad de Vida
18.
Int J Pediatr Otorhinolaryngol ; 128: 109733, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31670195

RESUMEN

OBJECTIVES: Laryngopharyngeal reflux (LPR) is a complex problem in pediatric population: diagnosis and clinical presentation are still controversial. Classic white light endoscopy shows some pathognomonic signs of LPR in children, such as thickening of pharyngo-laryngeal mucus, the cobblestoning aspect of pharyngeal mucosa, arytenoid edema/hyperemia, nodular thickening/true vocal cord edema, hypertrophy of the posterior commissure, subglottic edema. The NBI (Narrow Band Imaging) technology, generally used in oncology, allows to study neoangiogenesis and hypervascularization of the mucosa, common aspects in both chronic inflammation and neoplastic transformation. The aim of our study was to evaluate the added value of this technology in identifying the main laryngopharyngeal reflux sign in a pediatric population. METHODS: We evaluated at the Otolaryngology Unit of the "Fondazione Policlinico A. Gemelli" hospital and the Airway Surgery Unit of the "Bambino Gesù" Children's Hospital 35 patients aged from 2 months to 16 years divided into two groups in the period between November 2017 and May 2018. Group A included patients with clinical suspicion of LPR after gastroenterologist evaluation and Group B included patients who underwent an endoscopic evaluation for the assessment of recurrent respiratory symptoms such as stridor, recurrent croup, wheezing and persistent cough. We performed an endoscopic evaluation by white light and NBI for each patient, comparing the results of both methods to evaluate signs of pharyngo-laryngeal reflux and to calculate the value of reflux finding score (RFS). RESULTS: The analysis of the data showed: for Group A an average value of RFS with white light of 11,84 (range 8-17, standard deviation 2,52 ±â€¯0,57) and with NBI of 13,63 (range 10-17, standard deviation 2,13 ±â€¯0,49); for Group B the analysis of the data showed an average value of RFS with white light of 10,06 (range 8-14, standard deviation 2,32 ±â€¯0,58) and with NBI of 12,50 (range 9-18, standard deviation 2,63 ±â€¯0,65). The comparison between the two methods resulted significant. Furthermore evaluation by NBI allowed to highlight other signs of pharyngo-laryngeal reflux, characteristic of pediatric age and not included in RFS, in particular cobblestone aspect of the hypopharingeal mucosa, phlogosis of the tonsillar crypts and adenoid surface, hyperemia and hypervascularization of subglottic and tracheal mucosa. CONCLUSION: Although still preliminary our results represent an interesting starting point for further studies, because they underline the potentiality of NBI endoscopy in LPR evaluation and how this technology could improve the identification of reflux signs.


Asunto(s)
Reflujo Laringofaríngeo/diagnóstico , Laringoscopía/métodos , Imagen de Banda Estrecha , Tonsila Faríngea/diagnóstico por imagen , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Mucosa Laríngea/diagnóstico por imagen , Luz , Masculino , Tonsila Palatina/diagnóstico por imagen , Grabación en Video
19.
Clin Rheumatol ; 38(1): 77-84, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29728930

RESUMEN

This cross-sectional investigation examined the prevalence and severity of dysphonia, globus pharyngeus, and dysphagia in patients affected by immunomediated (IM) diseases. Seventy subjects were administered the Voice Handicap Index (VHI) (scale 0-4), Glasgow-Edinburgh Throat Scale (GETS) (scale from 0 to 7) for globus pharyngeus assessment, and modified Swallowing Outcomes After Revised Laryngectomy (SOAL) (scale 0, 1, 2) to test swallowing symptoms. VHI: the mean percentage of answers with a score greater than 1 (corresponding to a frequency of situation's occurrence "sometimes," "almost always," or "always") was 25.7, 26.7, and 44.1% for functional, emotional, and physical groups of sub-items respectively. GETS: the mean percentage of answers with a score ≥ 3 was 60.85%, significantly higher if compared with that of answers with a score < 3 (40.14%). The mean percentages of answers with a score 0-2, 3-4, and 5-7 were 40.1, 16.7, and 43.7% respectively. SOAL: a mean of 57.9% of answers gained a symptomatic score (1 ["a little"] or 2 ["a lot"]) and 41.9%, the score 0. The difference was statistically significant (p < 0.05). The first two most recurrent items with a score 2 ("a lot") were "Do you have a problem swallowing dry food?" (46%) and "Do you have a problem swallowing solid food?" (36%). The study represents the first to describe the globus pharyngeus symptoms in IM population. Moreover, it allows to confirm the recurrence of dysphonia and dysphagia in this type of patients. Particularly, it has been demonstrated that the alteration of swallowing function is related to solid and dry food. The self-assessment questionnaires proved as a useful tool to early detection of dysfunctions in order to avoid further deterioration of quality of life and to prevent serious life-threatening complications.


Asunto(s)
Trastornos de Deglución/epidemiología , Disfonía/epidemiología , Psicometría , Enfermedades Reumáticas/fisiopatología , Índice de Severidad de la Enfermedad , Adulto , Estudios Transversales , Trastornos de Deglución/diagnóstico , Disfonía/diagnóstico , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Calidad de Vida , Enfermedades Reumáticas/complicaciones , Encuestas y Cuestionarios
20.
Pediatr Med Chir ; 30(1): 31-4, 2008.
Artículo en Italiano | MEDLINE | ID: mdl-18491676

RESUMEN

OBJECTIVE: The objective of the present study was to identify bacterial biofilms in tissue samples obtained from paediatric patients undergoing surgical treatment, for recurrent upper airway infections, frequently associated to effusive otitis media, unresponsive to repeated cycles of selective medical antibiotic and anti-inflammatory therapy and assay the ability of Haemophilus influenzae strains, most frequently identified in our cultural examinations, to grow as biofilm in vitro. METHODS: We examined 18 surgical specimens (18 adenoids) from the upper respiratory tract, obtained from 18 paediatric patients. Tissues were cultured using conventional methods and subjected to scanning electron microscopy for detection of biofilm. Haemophilus influenzae strains, were cultured on 96-sterile well polystyrene microtiter plates (CELLSTAR-greiner bio-one) and stained with 1% crystal violet to quantify biofilm production. RESULTS: Bacterial cocci attached to the tissue surface and organized in colonies, with a morphology consistent with bacterial coccoid biofilms, were observed in all adenoid (18/18) samples. Haemophilus influenzae isolates from 11/18 (61.1%) of our tissue samples scored a percentual transmittance (%Tbloc) > 50, identifying a high capacity to form biofilms (level 4). CONCLUSIONS: Bacterial biofilms identified in adenoid tissue of paediatric patients with recurrent upper airway inflammatory processes, associated to chronic effusive otitis media, may represent a bacterial "reservoir" responsible of the maintenance of chronic inflammatory mucosal reactions, resistant to selective antibiotic therapy and requiring surgical treatment.


Asunto(s)
Tonsila Faríngea/microbiología , Biopelículas , Haemophilus influenzae/aislamiento & purificación , Haemophilus influenzae/fisiología , Otitis Media con Derrame/microbiología , Tonsila Faríngea/cirugía , Técnicas Bacteriológicas , Niño , Preescolar , Colorantes , Humanos , Microscopía Electrónica de Rastreo , Otitis Media con Derrame/complicaciones , Recurrencia , Mucosa Respiratoria/microbiología , Técnicas de Cultivo de Tejidos
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