112 research outputs found
Myoepithelioma of the larynx: a case report
Myoepithelioma of the larynx is a very rare tumor with nonspecific local symptoms. We present the second known case, focusing on the peculiarities of the differential diagnosis for this type of tumor that are crucial for the right histologic diagnosis and furthermore for the therapeutic outcome
Fate of Irgarol 1051, diuron and their main metabolites in two UK marine systems after restrictions in antifouling paints
Two major antifouling biocides used worldwide, Irgarol 1051 and diuron, and their degradation products in Shoreham Harbour and Brighton Marina, UK were studied during 2003-2004. The highest concentrations of Irgarol 1051 were 136 and 102 ng L(-1) in water and 40 and 49 ng g(-1) dry weight in sediments for Shoreham Harbour and Brighton Marina, respectively. As the degradation product of Irgarol 1051, M1 was also widespread, with the highest concentration of 59 ng L(-1) in water and 23 ng g(-1) in sediments in Shoreham Harbour, and 37 ng L(-1) in water and 5.6 ng g(-1) in sediments in Brighton Marina. The target compounds showed enhanced concentrations during the boating season (May-July), when boats were being re-painted (January-February), and where the density of pleasure crafts was high. Overall, the concentration of Irgarol 1051 decreased significantly from late 2000 to early 2004, indicating the effectiveness of controlling its concentrations in the marine environment following restricted use. Diuron was only detected in 14% of water samples, and mostly absent from sediment samples
Prospective, open, multi-centre phase I/II trial to assess safety and efficacy of neoadjuvant radiochemotherapy with docetaxel and oxaliplatin in patients with adenocarcinoma of the oesophagogastric junction
Background: This phase I/II-trial assessed the dose-limiting toxicities (DLT) and maximum tolerated dose (MTD) of neoadjuvant radiochemotherapy (RCT) with docetaxel and oxaliplatin in patients with locally advanced adenocarcinoma of the oesophagogastric junction.
Methods: Patients received neoadjuvant radiotherapy (50.4âGy) together with weekly docetaxel (20âmg/m2 at dose level (DL) 1 and 2, 25âmg/m2 at DL 3) and oxaliplatin (40âmg/m2 at DL 1, 50âmg/m2 at DL 2 and 3) over 5âweeks. The primary endpoint was the DLT and the MTD of the RCT regimen. Secondary endpoints included overall response rate (ORR) and progression-free survival (PFS).
Results: A total of 24 patients were included. Four patients were treated at DL 1, 13 patients at DL 2 and 7 patients at DL 3. The MTD of the RCT was considered DL 2 with docetaxel 20âmg/m2 and oxaliplatin 50âmg/m2. Objective response (CR/PR) was observed in 32% (7/22) of patients. Eighteen patients (75%) underwent surgery after RCT. The median PFS for all patients (nâ=â24) was 6.5âmonths. The median overall survival for all patients (nâ=â24) was 16.3âmonths. Patients treated at DL 2 had a median overall survival of 29.5âmonths.
Conclusion: Neoadjuvant RCT with docetaxel 20âmg/m2 and oxaliplatin 50âmg/m2 was effective and showed a good toxicity profile. Future studies should consider the addition of targeted therapies to current neoadjuvant therapy regimens to further improve the outcome of patients with advanced cancer of the oesophagogastric junction.
Trial Registration: NCT0037498
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent and dysmorphic, he had a long philtrum and a high arched palate. His weight was 17 kg (25th percentile) and his height 120 cm (50th percentile). High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18)(q21.32-qter) in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed concerning comparable previously reported cases and the possible mechanisms of formation
The use of array-CGH in a cohort of Greek children with developmental delay
<p>Abstract</p> <p>Background</p> <p>The genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyotyping has been used as one of the routine techniques for the last decades. The implementation of Array Comparative Genomic Hybridization (array-CGH) has enabled the analysis of copy number variants (CNVs) with high resolution. Major cohort studies attribute 11% of patients with unexplained mental retardation to clinically significant CNVs. Here we report the use of array-CGH for the first time in a Greek cohort. A total of 82 children of Greek origin with mean age 4.9 years were analysed in the present study. Patients with visible cytogenetic abnormalities ascertained by standard karyotyping as well as those with subtelomeric abnormalities determined by Multiplex Ligation-dependent Probe Amplification (MLPA) or subtelomeric FISH had been excluded.</p> <p>Results</p> <p>Fourteen CNVs were detected in the studied patients. In nine patients (11%) the chromosomal aberrations were inherited from one of the parents. One patients showed two duplications, a 550 kb duplication in 3p14.1 inherited from the father and a ~1.1 Mb duplication in (22)(q13.1q13.2) inherited from the mother. Although both parents were phenotypically normal, it cannot be excluded that the dual duplication is causative for the patient's clinical profile including dysmorphic features and severe developmental delay. Furthermore, three <it>de novo </it>clinically significant CNVs were detected (3.7%). There was a ~6 Mb triplication of 18q21.1 in a girl 5 years of age with moderate MR and mild dysmorphic features and a ~4.8 Mb duplication at (10)(q11.1q11.21) in a 2 years old boy with severe MR, multiple congenital anomalies, severe central hypotonia, and ataxia. Finally, in a 3 year-old girl with microcephaly and severe hypotonia a deletion in (2)(q31.2q31.3) of about ~3.9 Mb was discovered. All CNVs were confirmed by Fluorescence <it>in situ </it>hybridization (FISH). For the remaining 9 patients the detected CNVs (inherited duplications or deletions of 80 kb to 800 kb in size) were probably not associated with the clinical findings.</p> <p>Conclusions</p> <p>Genomic microarrays have within the recent years proven to be a highly useful tool in the investigation of unexplained MR. The cohorts reported so far agree on an around 11% diagnostic yield of clinically significant CNVs in patients with unexplained MR. Various publicly available databases have been created for the interpretation of identified CNVs and parents are analyzed in case a rare CNV is identified in the child. We have conducted a study of Greek patients with unexplained MR and confirmed the high diagnostic value of the previous studies. It is important that the technique becomes available also in less developed countries when the cost of consumables will be reduced.</p
Non-target screening with high-resolution mass spectrometry: critical review using a collaborative trial on water analysis
In this article, a dataset from a collaborative nontarget
screening trial organised by the NORMAN Association
is used to review the state-of-the-art and discuss future perspectives
of non-target screening using high-resolution mass
spectrometry in water analysis. A total of 18 institutes from
12 European countries analysed an extract of the same water
sample collected from the River Danube with either one or both
of liquid and gas chromatography coupled with mass spectrometry detection. This article focuses mainly on the
use of high resolution screening techniques with target, suspect,
and non-target workflows to identify substances in environmental
samples. Specific examples are given to emphasise major
challenges including isobaric and co-eluting substances, dependence
on target and suspect lists, formula assignment, the
use of retention information, and the confidence of identification.
Approaches and methods applicable to unit resolution data
are also discussed. Although most substances were identified
using high resolution data with target and suspect-screening
approaches, some participants proposed tentative non-target
identifications. This comprehensive dataset revealed that nontarget
analytical techniques are already substantially
harmonised between the participants, but the data processing
remains time-consuming. Although the objective of a Bfullyautomated
identification workflow^ remains elusive in the
short term, important steps in this direction have been taken,
exemplified by the growing popularity of suspect screening
approaches. Major recommendations to improve non-target
screening include better integration and connection of desired
features into software packages, the exchange of target and
suspect lists, and the contribution of more spectra from standard
substances into (openly accessible) databases.This work was supported in part by the SOLUTIONS project, which received
funding from the European Unionâs Seventh Framework Programme for
research, technological development and demonstration under Grant
Agreement No. 603437
Measuring biomarkers in wastewater as a new source of epidemiological information:Current state and future perspectives
The information obtained from the chemical analysis of specific human excretion products (biomarkers) in urban wastewater can be used to estimate the exposure or consumption of the population under investigation to a defined substance. A proper biomarker can provide relevant information about lifestyle habits, health and wellbeing, but its selection is not an easy task as it should fulfil several specific requirements in order to be successfully employed. This paper aims to summarize the current knowledge related to the most relevant biomarkers used so far. In addition, some potential wastewater biomarkers that could be used for future applications were evaluated. For this purpose, representative chemical classes have been chosen and grouped in four main categories: (i) those that provide estimates of lifestyle factors and substance use, (ii) those used to estimate the exposure to toxicants present in the environment and food, (iii) those that have the potential to provide information about public health and illness and (iv) those used to estimate the population size. To facilitate the evaluation of the eligibility of a compound as a biomarker, information, when available, on stability in urine and wastewater and pharmacokinetic data (i.e. metabolism and urinary excretion profile) has been reviewed. Finally, several needs and recommendations for future research are proposed.</p
Crossâcultural assessment of HIVâassociated cognitive impairment using the Kaufman assessment battery for children: a systematic review
Introduction: Despite improved efficacy of, and access to, combination antiretroviral therapy (cART), HIVâassociated cognitive impairments remain prevalent in both children and adults. Neuropsychological tests that detect such impairment can help clinicians formulate effective treatment plans. The Kaufman Assessment Battery for Children (KABC), although developed and standardized in the United States, is used frequently in many different countries and cultural contexts to assess paediatric performance across various cognitive domains. This systematic review investigated the crossâcultural utility of the original KABC, and its 2nd edition (KABCâII), in detecting HIVâassociated cognitive impairment in children and adolescents.Methods: We entered relevant keywords and MeSH terms into the PubMed, PsycInfo, EBSCOHost, ProQuest, and Scopus databases, with search limits set from 1983â2017. Two independent reviewers evaluated the retrieved abstracts and manuscripts. Studies eligible for inclusion in the review were those that (a) used the KABC/KABCâII to assess cognitive function in children/adolescents aged 2â18Â years, (b) featured a definition of cognitive impairment (e.g. >2 SD below the mean) or compared the performance of HIVâinfected and uninfected control groups, and (c) used a sample excluded from population on which the instruments were normed.Results and discussion: We identified nine studies (eight conducted in African countries, and one in the United Kingdom) to comprise the reviewâs sample. All studies detected cognitive impairment in HIVâinfected children, including those who were cARTânaĂŻve or who were cART treated and clinically stable. KABC/KABCâII subtests assessing simultaneous processing appeared most sensitive. Evaluation of the methodological quality of the selected studies by two independent reviews suggested that shortcomings included reporting and selection biases.Conclusions: This systematic review provides evidence for the crossâcultural utility of the KABC/KABCâII, particularly the simultaneous processing subtests, in detecting cognitive impairment in HIVâinfected children (including those who are clinically stable). Although the current results suggest there is justification for using the KABC/KABCâII primarily in East Africa, further investigation is required to explore the instrumentâs utility in other HIVâprevalent regions of the globe.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/138351/1/jia21412.pd
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