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1.
Biofouling ; 34(10): 1093-1109, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30663885

RESUMEN

Biofilms commonly colonise cooling water systems, causing equipment damage and interference with the operational requirements of the systems. In this study, next-generation sequencing (NGS), catalysed reporter deposition fluorescence in situ hybridisation (CARD-FISH), lectin staining and microscopy were used to evaluate temporal dynamics in the diversity and structure of biofilms collected seasonally over one year from an open full-scale cooling tower. Water samples were analysed to evaluate the contribution of the suspended microorganisms to the biofilm composition and structure. Alphaproteobacteria dominated the biofilm communities along with Beta- and Gammaproteobacteria. The phototrophic components were mainly cyanobacteria, diatoms and green algae. Bacterial biodiversity decreased from winter to autumn, concurrently with an increase in cyanobacterial and microalgal richness. Differences in structure, spatial organisation and glycoconjugates were observed among assemblages during the year. Overall, microbial variation appeared to be mostly affected by irradiance and water temperature rather than the source of the communities. Variations in biofilms over seasons should be evaluated to develop specific control strategies.


Asunto(s)
Biopelículas/crecimiento & desarrollo , Chlorophyta/crecimiento & desarrollo , Cianobacterias/crecimiento & desarrollo , Diatomeas/crecimiento & desarrollo , Proteobacteria/crecimiento & desarrollo , Estaciones del Año , Biodiversidad , Frío , Hibridación Fluorescente in Situ , Industria del Petróleo y Gas , Propiedades de Superficie
2.
J Intellect Disabil Res ; 62(7): 593-603, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29682828

RESUMEN

BACKGROUND: Individuals with Down syndrome generally show a floor effect on Wechsler Scales that is manifested by flat profiles and with many or all of the weighted scores on the subtests equal to 1. METHOD: The main aim of the present paper is to use the statistical Hessl method and the extended statistical method of Orsini, Pezzuti and Hulbert with a sample of individuals with Down syndrome (n = 128; 72 boys and 56 girls), to underline the variability of performance on Wechsler Intelligence Scale for Children-Fourth Edition subtests and indices, highlighting any strengths and weaknesses of this population that otherwise appear to be flattened. RESULTS: Based on results using traditional transformation of raw scores into weighted scores, a very high percentage of subtests with weighted score of 1 occurred in the Down syndrome sample, with a floor effect and without any statistically significant difference between four core Wechsler Intelligence Scale for Children-Fourth Edition indices. The results, using traditional transformation, confirm a deep cognitive impairment of those with Down syndrome. Conversely, using the new statistical method, it is immediately apparent that the variability of the scores, both on subtests and indices, is wider with respect to the traditional method. CONCLUSION: Children with Down syndrome show a greater ability in the Verbal Comprehension Index than in the Working Memory Index.


Asunto(s)
Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/diagnóstico , Síndrome de Down/complicaciones , Escalas de Wechsler/estadística & datos numéricos , Adolescente , Niño , Trastornos del Conocimiento/psicología , Síndrome de Down/psicología , Femenino , Humanos , Italia , Masculino , Psicometría , Reproducibilidad de los Resultados
3.
Gynecol Oncol ; 144(1): 72-76, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28094039

RESUMEN

OBJECTIVE: Hypersensitivity reactions (HSR) are frequently reported in patients rechallenged with carboplatin for recurrent ovarian cancer (ROC) and represent a critical issue, since discontinuation of the platinum-based therapy could affect prognosis. Several strategies to allow platinum rechallenge have been described, with controversial outcomes. The aim of this study is to illustrate a 10-year experience with cisplatin in patients with a previous HSR to carboplatin or at risk for allergy. METHODS: A retrospective review of all patients with platinum sensitive ROC retreated with carboplatin was performed between January 2007 and May 2016 at the Istituto Nazionale Tumori, Fondazione "G. Pascale", Naples. RESULTS: Among 183 patients, 49 (26.8%) presented HSR to carboplatin, mainly during second line therapy. Mean number of cycles before HSR was 8 (range 3-17). G2, G3 and G4 reaction were detected in 83%, 15% and 2% of patients, respectively. In a multivariate analysis including age, hystotype, BRCA status, previous known HSR, and combination drug administered, only the type of carboplatin-based doublet used as 2nd line therapy was found to significantly affect HSR development, with a protective effect of PLD (pegylated liposomal doxorubicin) (p = 0.014, OR = 0.027). Thirty seven patients (77%) with a previous HSR to carboplatin were rechallenged with cisplatin. Treatment was generally well tolerated. 5 patients (13.1%) experienced mild HSR to cisplatin, successfully managed in all cases. 14 patients were treated with cisplatin even without a carboplatin-related HSR due to other allergies. Among these, only one developed HSR (7.1%). CONCLUSIONS: Cisplatin rechallenge is a feasible approach in patients experiencing HSR to carboplatin to maintain the beneficial effect of platinum while reducing hypersensitivity-related risks.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carboplatino/efectos adversos , Cisplatino/administración & dosificación , Hipersensibilidad a las Drogas/etiología , Recurrencia Local de Neoplasia/tratamiento farmacológico , Neoplasias Ováricas/tratamiento farmacológico , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Carboplatino/administración & dosificación , Carboplatino/inmunología , Cisplatino/efectos adversos , Desoxicitidina/administración & dosificación , Desoxicitidina/análogos & derivados , Doxorrubicina/administración & dosificación , Doxorrubicina/análogos & derivados , Femenino , Humanos , Persona de Mediana Edad , Paclitaxel/administración & dosificación , Polietilenglicoles/administración & dosificación , Estudios Retrospectivos , Gemcitabina
4.
Biofouling ; 33(10): 793-806, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-28994320

RESUMEN

In this study, next generation sequencing and catalyzed reporter deposition fluorescence in situ hybridization, combined with confocal microscopy, were used to provide insights into the biodiversity and structure of biofilms collected from four full-scale European cooling systems. Water samples were also analyzed to evaluate the impact of suspended microbes on biofilm formation. A common core microbiome, containing members of the families Sphingomonadaceae, Comamonadaceae and Hyphomicrobiaceae, was found in all four biofilms, despite the water of each coming from different sources (river and groundwater). This suggests that selection of the pioneer community was influenced by abiotic factors (temperature, pH) and tolerances to biocides. Members of the Sphingomonadaceae were assumed to play a key role in initial biofilm formation. Subsequent biofilm development was driven primarily by light availability, since biofilms were dominated by phototrophs in the two studied 'open' systems. Their interactions with other microbial populations then shaped the structure of the mature biofilm communities analyzed.


Asunto(s)
Biodiversidad , Biopelículas/clasificación , Microbiota/genética , Desinfectantes/farmacología , Industria Farmacéutica , Agua Subterránea/microbiología , Secuenciación de Nucleótidos de Alto Rendimiento , Hibridación Fluorescente in Situ , Pruebas de Sensibilidad Microbiana , Microbiota/efectos de los fármacos , Industria del Petróleo y Gas , Ríos/microbiología
5.
Water Sci Technol ; 69(8): 1728-34, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24759535

RESUMEN

The requirement for enhanced stabilization processes to obtain a more stable, pathogen-free sludge for agricultural use is an increasing challenge to comply with in the waste hierarchy. With this in mind, the Routes European project ('Novel processing routes for effective sewage sludge management') is addressed to assess innovative solutions with the aim of maximizing sludge quality and biological stability. In order to increase anaerobic stabilization performances, the sequential anerobic/aerobic process and the thermophilic digestion process, with or without integration of the thermal hydrolysis pre-treatment, were investigated as regards the effect on sludge stabilization, dewaterability and digestion performances. Thermal pre-treatment improved anaerobic digestion in terms of volatile solids reduction and biogas production, but digestate dewaterability worsened. Fluorescence in situ hybridization (FISH) quantification showed an increase of methanogens consistent with the increase of biogas produced. The aerobic post-treatment after mesophilic digestion had a beneficial effect on dewaterability and stability of the digested sludge even if was with a reduction of the potential energy recovery.


Asunto(s)
Reactores Biológicos , Aguas del Alcantarillado/química , Eliminación de Residuos Líquidos , Aerobiosis , Anaerobiosis
6.
Curr Oncol ; 21(3): 125-33, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24940093

RESUMEN

BACKGROUND: To date, few studies of preoperative chemotherapy or chemoradiotherapy (crt) in gastroesophageal junction (gej) cancer have been statistically powered; indeed, gej tumours have thus far been grouped with esophageal or gastric cancer in phase iii trials, thereby generating conflicting results. METHODS: We studied 41 patients affected by locally advanced Siewert type i and ii gej adenocarcinoma who were treated with a neoadjuvant crt regimen [folfox4 (leucovorin-5-fluorouracil-oxaliplatin) for 4 cycles, and concurrent computed tomography-based three-dimensional conformal radiotherapy delivered using 5 daily fractions of 1.8 Gy per week for a total dose of 45 Gy], followed by surgery. Completeness of tumour resection (performed approximately 6 weeks after completion of crt), clinical and pathologic response rates, and safety and outcome of the treatment were the main endpoints of the study. RESULTS: All 41 patients completed preoperative treatment. Combined therapy was well tolerated, with no treatment-related deaths. Dose reduction was necessary in 8 patients (19.5%). After crt, 78% of the patients showed a partial clinical response, 17% were stable, and 5% experienced disease progression. Pathology examination of surgical specimens demonstrated a 10% complete response rate. The median and mean survival times were 26 and 36 months respectively (95% confidence interval: 14 to 37 months and 30 to 41 months respectively). On multivariate analysis, TNM staging and clinical response were demonstrated to be the only independent variables related to long-term survival. CONCLUSIONS: In our experience, preoperative chemoradiotherapy with folfox4 is feasible in locally advanced gej adenocarcinoma, but shows mild efficacy, as suggested by the low rate of pathologic complete response.

7.
Water Sci Technol ; 68(10): 2151-7, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24292461

RESUMEN

In this study, a granular sludge sequencing batch reactor (GSBR) was started-up for the biological aerobic treatment of wastewater containing highly toxic 2,4-dichlorophenol (2,4-DCP), in presence of readily biodegradable sodium acetate (NaAc) as the growth substrate. Different influent concentrations of NaAc (420-800 mg/L) and 2,4-DCP (0-20 mg/L), as well as different operating conditions (i.e. cycle length), were tested in order to determine the optimal strategy for successful GSBR start-up: stable granulation and complete 2,4-DCP removal were achieved only when high NaAc influent concentration and volumetric organic loading rates (800 mg/L and 1.9 kgCOD/(m(3)·d), respectively), prolonged reaction phase (cycle time of 4 hours) and gradual increase of 2,4-DCP concentration in the influent were applied, thus providing useful information for process optimization in view of future scale-up. Granules were initially colonized by fungi which progressively disappeared during the start-up process, and complete 2,4-DCP removal was mostly due to bacterial activity, in particular Betaproteobacteria, as shown by fluorescence in situ hybridization (FISH).


Asunto(s)
Bacterias/metabolismo , Reactores Biológicos , Clorofenoles/metabolismo , Purificación del Agua/instrumentación
8.
Sci Total Environ ; 838(Pt 4): 156458, 2022 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-35660624

RESUMEN

In this study, real marine sediments polluted by petroleum compounds were treated by means of a bioslurry pilot scale reactor. The treatment performance was evaluated by measuring the removal of total petroleum hydrocarbon (TPH), coupled to further analyses required to understand the mechanisms involved in the biodegradation process. The maximum TPH-removal efficiency reached 86 % at the end of experiments. Moreover, high throughput 16S RNA gene sequencing was used to describe the microbiome composition in sediment prior to, and after, bioslurry treatment, in order to identify the taxa mostly entailed in the TPH removal process. The raw sediment was mostly colonized by members of Sulfurimonas genus; after bioslurry treatment, it was noticed a shift in the microbial community composition, with Proteobacteria phylum dominating the remediation environment (high increase in terms of growth for Hydrogenophaga and Sphingorhabdus genera) along with the Phaeodactylibacter genus (Bacteroidetes). Furthermore, the assessment of gaseous emissions from the system allowed to quantify the volatile hydrocarbon component and, consequently, to obtain a more accurate evaluation of TPH-removal pathway by the bioslurry system. Finally, phytotoxicity tests on sediment samples highlighted an increase of the treated sample quality status compared to the untreated one.


Asunto(s)
Microbiota , Petróleo , Contaminantes del Suelo , Biodegradación Ambiental , Sedimentos Geológicos/química , Hidrocarburos/metabolismo , Petróleo/análisis , Microbiología del Suelo , Contaminantes del Suelo/análisis
9.
ESMO Open ; 7(2): 100431, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35405438

RESUMEN

BACKGROUND: Limited real-world data exist on the effectiveness and safety of abiraterone acetate plus prednisone (abiraterone hereafter) in the treatment of patients with metastatic castration-resistant prostate cancer (mCRPC) naive to chemotherapy. Most of the few available studies had a retrospective design and included a small number of patients. In the interim analysis of the ABItude study, abiraterone showed good clinical effectiveness and safety profile in the chemotherapy-naive setting over a median follow-up of 18 months. PATIENTS AND METHODS: We evaluated clinical and patient-reported outcomes (PROs) of chemotherapy-naive mCRPC patients treated with abiraterone as for clinical practice in the Italian, observational, prospective, multicentric ABItude study. mCRPC patients were enrolled at abiraterone start (February 2016-June 2017) and followed up for 3 years; clinical endpoints and PROs, including quality of life (QoL) and pain, were prospectively collected. Kaplan-Meier curves were estimated. RESULTS: Of the 481 patients enrolled, 454 were assessable for final study analyses. At abiraterone start, the median age was 77 years, with 58.6% elderly patients and 69% having at least one comorbidity (57.5% cardiovascular diseases). Visceral metastases were present in 8.4% of patients. Over a median follow-up of 24.8 months, median progression-free survival (any progression reported by the investigators), time to abiraterone discontinuation, and overall survival were, respectively, 17.3 months [95% confidence interval (CI) 14.1-19.4 months], 16.0 months (95% CI 13.1-18.2 months), and 37.3 months (95% CI 36.5 months-not estimable); 64.2% of patients achieved ≥50% reduction in prostate-specific antigen. QoL assessed by Functional Assessment of Cancer Therapy-Prostate, the European Quality of Life 5 Dimensions 3 Level, and European Quality of Life Visual Analog Scale remained stable during treatment. Median time to pain progression according to Brief Pain Inventory data was 31.1 months (95% CI 24.8 months-not estimable). Sixty-two patients (13.1%) had at least one adverse drug reaction (ADR) and 8 (1.7%) one serious ADR. CONCLUSION: With longer follow-up, abiraterone therapy remains safe, well tolerated, and active in a large unselected population.


Asunto(s)
Acetato de Abiraterona , Neoplasias de la Próstata Resistentes a la Castración , Acetato de Abiraterona/farmacología , Acetato de Abiraterona/uso terapéutico , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Humanos , Masculino , Dolor/inducido químicamente , Dolor/tratamiento farmacológico , Prednisona/farmacología , Prednisona/uso terapéutico , Estudios Prospectivos , Neoplasias de la Próstata Resistentes a la Castración/tratamiento farmacológico , Neoplasias de la Próstata Resistentes a la Castración/patología , Calidad de Vida , Estudios Retrospectivos
10.
FEMS Microbiol Ecol ; 97(6)2021 05 25.
Artículo en Inglés | MEDLINE | ID: mdl-33899920

RESUMEN

One of the challenges to implementing the modeling of the biological reductive dechlorination (RD) process is the evaluation of biological parameters that represent the abundance/activity levels of the microorganisms involved in the biodegradation of chloroethenes. Here we report a combined analysis of kinetic and specific biomass parameters conducted on three dechlorinating consortia enriched on PCE, TCE and cis-1,2-DCE. In these consortia, Dehalococcoides mccartyi (Dhc) represented ≥70% of the bacterial population identified via 16S rRNA gene amplicon sequencing. Quantitative biomolecular methods were used to generate specific biomass parameters targeting either the Dhc population (16S rRNA genes or cells) or specific genes encoding RD process-involved reductive dehalogenases. The correlation factor between the abundance of active Dhc cells or tceA gene copies and maximum RD rates allowed to predict an increment of 7E+09 of active Dhc cells or 5E+09 tceA gene copies/L under controlled conditions. Diversely, the utilization of gene transcripts as biomass parameters for RD modeling did not provide reliable correlations with kinetic performances. This study provides valuable insights for further modeling of the RD process through the utilization of specific biomass parameters.


Asunto(s)
Chloroflexi , Tricloroetileno , Cloruro de Vinilo , Biodegradación Ambiental , Biomasa , Chloroflexi/genética , Dehalococcoides , ARN Ribosómico 16S/genética
11.
Sci Total Environ ; 749: 141608, 2020 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-32836129

RESUMEN

Pollution of aquatic ecosystems by plastic wastes poses severe environmental and health problems and has prompted scientific investigations on the fate and factors contributing to the modification of plastics in the marine environment. Here, we investigated, by means of microcosm studies, the role of hydrocarbon-degrading bacteria in the degradation of poly(ethylene terephthalate) (PET), the main constituents of plastic bottles, in the marine environment. To this aim, different bacterial consortia, previously acclimated to representative hydrocarbons fractions namely, tetradecane (aliphatic fraction), diesel (mixture of hydrocarbons), and naphthalene/phenantrene (aromatic fraction), were used as inocula of microcosm experiments, in order to identify peculiar specialization in poly(ethylene terephthalate) degradation. Upon formation of a mature biofilm on the surface of poly(ethylene terephthalate) films, the bacterial biodiversity and degradation efficiency of each selected consortium was analyzed. Notably, significant differences on biofilm biodiversity were observed with distinctive hydrocarbons-degraders being enriched on poly(ethylene terephthalate) surface, such as Alcanivorax, Hyphomonas, and Cycloclasticus species. Interestingly, ATR-FTIR analyses, supported by SEM and water contact angle measurements, revealed major alterations of the surface chemistry and morphology of PET films, mainly driven by the bacterial consortia enriched on tetradecane and diesel. Distinctive signatures of microbial activity were the alteration of the FTIR spectra as a consequence of PET chain scission through the hydrolysis of the ester bond, the increased sample hydrophobicity as well as the formation of small cracks and cavities on the surface of the film. In conclusion, our study demonstrates for the first time that hydrocarbons-degrading marine bacteria have the potential to degrade poly(ethylene terephthalate), although their degradative activity could potentially trigger the formation of harmful microplastics in the marine environment.


Asunto(s)
Plásticos , Tereftalatos Polietilenos , Bacterias , Biodegradación Ambiental , Ecosistema , Etilenos , Hidrocarburos , Ácidos Ftálicos
12.
Eur Rev Med Pharmacol Sci ; 23(14): 6079-6090, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31364109

RESUMEN

OBJECTIVE: Whether lymph node dissection (LND) should be performed concomitantly with radical nephrectomy (RN) for non-metastatic renal carcinoma has still been controversial recently. We conducted a meta-analysis assessing oncologic outcomes of radical nephrectomy with lymph node dissection (LND) and without lymph node dissection (non-LND) in non-metastatic renal cell carcinoma (NMRCC). PATIENTS AND METHODS: A systematic review was performed until April 2018 using a comprehensive search in PubMed, EMBASE, and Cochrane Library databases to identify eligible comparative studies. A formal meta-analysis was performed for studies comparing radical nephrectomy with LND and radical nephrectomy with non-LND for cT1-T4NxM0 tumors. Furthermore, a subgroup analysis for locally advanced renal cell carcinoma (cT3-T4NxM0) was conducted. RESULTS: Thirteen studies on patients with LND and non- LND were identified and included in the analysis. LND group did not have a significantly better survival than non-LND group for cT1-T4NxM0 tumors (HR 0.93, 95% CI 0.78-1.11, p=0.45), However, in the subgroup of locally advanced renal cell carcinoma (cT3-T4NxM0), it showed a significantly better OS rate in patients who had undergone LND compared to those without LND (HR 0.73, 95% CI 0.60-0.90; p=0.003). CONCLUSIONS: LND offers better cancer control and better long-term survival in locally advanced renal cell carcinomas (cT3-T4NxM0). This conclusion should be confirmed by a prospective randomized clinical trial.


Asunto(s)
Carcinoma de Células Renales/cirugía , Neoplasias Renales/cirugía , Escisión del Ganglio Linfático/métodos , Carcinoma de Células Renales/patología , Femenino , Humanos , Neoplasias Renales/patología , Masculino , Estadificación de Neoplasias , Nefrectomía , Estudios Prospectivos , Análisis de Supervivencia , Resultado del Tratamiento
13.
Eur Rev Med Pharmacol Sci ; 23(9): 3885-3891, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31115016

RESUMEN

OBJECTIVE: Testicular cancer is a relatively rare neoplasia, with an incidence of about 1,5% among male malignancies, usually in the third and fourth decade of life. Although several histological variants are known, with some histotypes affecting older patients (e.g., spermatocytic seminoma), there is a clear predominance (90-95%) of germ cell tumors among young adults patients1. Testicular Germ Cell Tumor (TGCT), undoubtedly the seminoma histological variant more than non-seminoma one, is definitely a highly curable disease, with a distinctive sensitivity to cisplatin-based therapy (and for seminomas to radiotherapy) and an outstanding cure rate of nearly 80% even for patients with advanced disease. So far, clinical and pathohistological features supported our efforts to choose the best treatment option for patients suffering from this malignancy, but we don't clearly enough know molecular and pathological features underlying different clinical behaviors, mostly in early-stage disease: by improving this knowledge, we should better "shape" therapeutic or surveillance programs for each patient, also in order to avoid unnecessary, if not harmful, treatments.


Asunto(s)
Neoplasias Testiculares/patología , Antineoplásicos/uso terapéutico , Cisplatino/uso terapéutico , Humanos , Masculino , Estadificación de Neoplasias , Neoplasias de Células Germinales y Embrionarias/tratamiento farmacológico , Neoplasias de Células Germinales y Embrionarias/metabolismo , Neoplasias de Células Germinales y Embrionarias/patología , Pronóstico , Seminoma/metabolismo , Seminoma/patología , Seminoma/radioterapia , Neoplasias Testiculares/tratamiento farmacológico , Neoplasias Testiculares/metabolismo
14.
Water Res ; 157: 381-395, 2019 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-30974287

RESUMEN

Marine sediments represent an important sink of harmful petroleum hydrocarbons after an accidental oil spill. Electrobioremediation techniques, which combine electrokinetic transport and biodegradation processes, represent an emerging technological platform for a sustainable remediation of contaminated sediments. Here, we describe the results of a long-term mesocosm-scale electrobioremediation experiment for the treatment of marine sediments contaminated by crude oil. A dimensionally stable anode and a stainless-steel mesh cathode were employed to drive seawater electrolysis at a fixed current density of 11 A/m2. This approach allowed establishing conditions conducive to contaminants biodegradation, as confirmed by the enrichment of Alcanivorax borkumensis cells harboring the alkB-gene and other aerobic hydrocarbonoclastic bacteria. Oil chemistry analyses indicated that aromatic hydrocarbons were primarily removed from the sediment via electroosmosis and low molecular weight alkanes (nC6 to nC10) via biodegradation.


Asunto(s)
Contaminación por Petróleo , Petróleo , Biodegradación Ambiental , Sedimentos Geológicos , Hidrocarburos , Agua de Mar
15.
Hum Mutat ; 29(1): 2-5, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18157828

RESUMEN

Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.


Asunto(s)
Bases de Datos Genéticas/normas , Biología Computacional , Bases de Datos Genéticas/estadística & datos numéricos , Bases de Datos Genéticas/tendencias , Testimonio de Experto , Genes , Marcadores Genéticos , Variación Genética , Guías como Asunto , Humanos , Mutación
16.
J Urol ; 180(1): 72-8, 2008 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18485380

RESUMEN

PURPOSE: The prognostic accuracy of the current TNM 2002 staging system for locally advanced renal cell carcinoma has been questioned. To contribute to the development of a more accurate classification for this stage of disease we assessed the correlation between patterns of invasion in the pT3 category and outcomes in a large multi-institutional series. MATERIALS AND METHODS: Pathological data and clinical followup on 513 pT3 renal cell carcinoma cases treated with radical nephrectomy between 1983 and 2005 at 3 Italian academic centers were retrospectively reviewed. Cause specific survival rates were calculated with the Kaplan-Meier method and multivariate analysis was performed using the Cox proportional hazards regression model. RESULTS: Estimated overall 5-year cause specific survival was 50.1% at a median followup of 61.5 months in survivors. The current TNM classification was not a significant outcome prognosticator. Patients with a tumor invading only the perirenal or sinus fat were at lowest risk for death from the disease. Patients at intermediate risk had tumors with invasion of the venous system alone. Simultaneous perirenal fat and sinus fat invasion or perirenal fat and vascular invasion as well as adrenal gland involvement characterized high risk tumors. Low risk tumors could be further divided into 2 groups with different outcomes based on a size cutoff of 7 cm. Our classification was a significant predictor of survival on multivariate analysis as well as M stage, N stage, Fuhrman grade and tumor size. CONCLUSIONS: We confirm that the prognostic usefulness of the current 2002 TNM system for pT3 renal cell carcinoma is limited. We have identified 4 groups of tumors with distinct patterns of invasion and significantly different survival probabilities in this category. Large prospective series are needed to validate these findings.


Asunto(s)
Carcinoma de Células Renales/clasificación , Carcinoma de Células Renales/patología , Neoplasias Renales/clasificación , Neoplasias Renales/patología , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Renales/mortalidad , Femenino , Humanos , Neoplasias Renales/mortalidad , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias/normas , Pronóstico , Reproducibilidad de los Resultados , Estudios Retrospectivos , Tasa de Supervivencia
17.
Eur J Clin Invest ; 38(3): 180-90, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18257781

RESUMEN

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in polycystins 1 (PC1) and 2 (PC2), is one of the most commonly inherited renal diseases, affecting ~1 : 1000 Caucasians. MATERIALS AND METHODS: We screened Greek ADPKD patients with the denaturing gradient gel electrophoresis (DGGE) assay and direct sequencing. RESULTS: We identified a patient homozygous for a nucleotide change c.1445T > G, resulting in a novel homozygous substitution of the non-polar hydrophobic phenylalanine to the polar hydrophilic cysteine in exon 6 at codon 482 (p.F482C) of the PKD2 gene and a de-novo PKD1 splice-site variant IVS21-2delAG. We did not find this PKD2 variant in a screen of 280 chromosomes of healthy subjects, supporting its pathogenicity. The proband's parents did not have the PKD1 mutation. Real-time PCR of the PKD2 transcript from a skin biopsy revealed 20-fold higher expression in the patient than in a healthy subject and was higher in the patient's peripheral blood mononuclear cells (PBMCs) than in those of her heterozygote daughter and a healthy subject. The greater gene expression was also supported by Western blotting. Inner medullar collecting duct (IMCD) cells transfected with the mutant PKD2 mouse gene presented a perinuclear and diffuse cytoplasmic localization compared with the wild type ER localization. Patch-clamping of PBMCs from the p.F482C homozygous and heterozygous subjects revealed lower polycystin-2 channel function than in controls. CONCLUSIONS: We report for the first time a patient with ADPKD who is heterozygous for a de novo PKD1 variant and homozygous for a novel PKD2 mutation.


Asunto(s)
Riñón Poliquístico Autosómico Dominante/genética , Proteínas/genética , Animales , Células Cultivadas , Análisis Mutacional de ADN , Electroforesis/métodos , Femenino , Homocigoto , Humanos , Masculino , Ratones , Mutación , Reacción en Cadena de la Polimerasa , Canales Catiónicos TRPP
18.
Water Sci Technol ; 58(2): 367-72, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18701787

RESUMEN

The paper reports the results of an experimental investigation aimed at transferring to demonstrative scale an innovative technology (SBBGR-Sequencing Batch Biofilter Granular Reactor) for the treatment of municipal and industrial wastewater by financial support of the EU Life programme. When this technology was applied for treating municipal wastewater, the results showed that the system was able to remove 80-90% of COD, total suspended solids and ammonia independently of the hydraulic residence time investigated (i.e., from 12 to 4 h). In the case of tannery wastewater, chosen as representative of concentrated industrial wastewater, SBBGR technology was suitable for removing 80-90% of the COD, suspended solids and ammonia content up to organic loading values of 3.5 kg COD/m3.d. During both periods, the process was characterised by a very high sludge age value (theta(c) approximately 150 d) that led to a biomass concentration as high as 35 gTSS/L(bed) and a sludge production much lower (5-6 times lower) that than commonly reported for conventional treatment plants.


Asunto(s)
Reactores Biológicos , Residuos Industriales , Eliminación de Residuos Líquidos/instrumentación , Eliminación de Residuos Líquidos/métodos , Amoníaco/química , Amoníaco/metabolismo , Ciudades , Curtiembre , Contaminantes Químicos del Agua/análisis , Purificación del Agua/métodos
19.
Environ Technol ; 39(10): 1250-1259, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-28475436

RESUMEN

Methanogenic biomass plays a key role with regard to methane production during anaerobic bioconversion of organic substrates. In this study, the effect of two different acclimated inocula on digestion performances was investigated by means of anaerobic batch tests on untreated and sonicated waste-activated sludge. Organics solubilization and removal kinetics, the abundance and physiological conditions of archaeal cells on ultimate methane yield were evaluated. The simultaneous presence of Methanosarcina and Methanosaeta in the archaeal biomass, the higher initial archaeal cells relative abundance and their occurrence in the aggregated forms were the main factors positively affecting the conversion into methane. The presence of the acclimated inoculum at the start-up influenced positively the methane improvement due to sonication, and the methane-specific production increased from 0.335 ± 0.03 to 0.420 ± 0.05 Nm3/kg VSfed. Moreover, the better physiological state of methanogens permitted to appreciate the effect of hydrolysis improvement by ultrasound pretreatment.


Asunto(s)
Reactores Biológicos , Metano/química , Aguas del Alcantarillado , Aclimatación , Anaerobiosis , Biomasa
20.
FEMS Microbiol Ecol ; 94(5)2018 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-29596620

RESUMEN

Matrix-embedded, surface-attached microbial communities, known as biofilms, profusely colonise industrial cooling water systems, where the availability of nutrients and organic matter favours rapid microbial proliferation and their adhesion to surfaces in the evaporative fill material, heat exchangers, water reservoir and cooling water sections and pipelines. The extensive growth of biofilms can promote micro-biofouling and microbially induced corrosion (MIC) as well as pose health problems associated with the presence of pathogens like Legionella pneumophila. This review examines critically biofilm occurrence in cooling water systems and the main factors potentially affecting biofilm growth, biodiversity and structure. A broad evaluation of the most relevant biofilm monitoring and control strategies currently used or potentially useful in cooling water systems is also provided.


Asunto(s)
Biopelículas/crecimiento & desarrollo , Agua Dulce/microbiología , Legionella pneumophila/fisiología , Microbiología del Agua , Abastecimiento de Agua
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