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Large Series (large + series)
Selected AbstractsAn anonymous survey of registrar training in the use of Kjelland's forceps in AustraliaAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 5 2009Marian CHINNOCK Large series suggest that, when used with appropriate care and skill, rotational deliveries with Kjelland's forceps are a safe and useful procedure. We surveyed obstetric trainees in Australia to assess their experience with, and intentions to use, Kjelland's forceps. The response rate was 65%, and it was uncommon for even senior trainees to have performed more than ten Kjelland's forceps rotations during their training. Ninety-four per cent of final-year trainees stated they did not intend to use Kjelland's forceps in their consultant practice. [source] Findings from a multidisciplinary clinical case series of females with Rett syndromeDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2003Hilary Cass BSc FRCPCH Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS. [source] Insulin resistance is not coupled with defective insulin secretion in primary hyperparathyroidismDIABETIC MEDICINE, Issue 10 2009F. Tassone Abstract Aims, An increased frequency of both impaired glucose tolerance and Type 2 diabetes mellitus (DM) has been reported in primary hyperparathyroidism (pHPT), thus we sought to investigate insulin sensitivity and insulin secretion in a large series of pHPT patients. Subjects and methods, One hundred and twenty-two consecutive pHPT patients without known DM were investigated [age (mean ± sd) 59.3 ± 13.6 years, body mass index (BMI) 25.7 ± 4.2 kg/m2; serum calcium 2.8 ± 0.25 mmol/l; PTH 203.2 ± 145.4 ng/l]. Sixty-one control subjects were matched, according to the degree of glucose tolerance, in a 2 : 1 patient:control ratio. Fasting- and oral glucose tolerance test-derived estimates of insulin sensitivity and secretion were determined by means of the quantitative insulin sensitivity check index (QUICKI) and the insulin sensitivity index (ISI) composite. Results, Both the QUICKI and ISI composite were lower in pHPT patients than control subjects (P < 0.03 and P < 0.05, respectively) after adjusting for age, systolic blood pressure and BMI. Conversely, all insulin secretion estimates were significantly increased in pHPT patients than in control subjects (P < 0.04 and P < 0.03, respectively) and after adjusting for age, systolic blood pressure and BMI. Log serum calcium levels were negatively associated with the QUICKI and log ISI composite (R = ,0.30, P = 0.001; R = ,0.23, P = 0.020, respectively) in pHPT patients. Serum calcium levels significantly and independently contributed to impaired insulin sensitivity in multivariate analysis (QUICKI as dependent variable: , = ,0.31, P = 0.004, R2 = 0.15; log ISI composite as dependent variable: , = ,0.29, P = 0.005, R2 = 0.16). Conclusions, Our study confirms a reduction in both basal and stimulated insulin sensitivity in primary hyperparathyroidism, in spite of increased insulin secretion. Moreover, our data show for the first time a significant relationship between hypercalcaemia and insulin sensitivity in this condition. [source] Secondary prostatic adenocarcinoma: A cytopathological study of 50 casesDIAGNOSTIC CYTOPATHOLOGY, Issue 2 2007F.R.C.P.C., Kien T. Mai M.D. Abstract Positive diagnosis of metastatic prostate adenocarcinoma (PAC) can be made by microscopic examination of the cytologic specimens and immunostaining for prostate-specific antigen (PSA) and prostate acid phosphatase (PAP). Immunohistochemical markers have been known to display negative, weak, or focal staining in poorly differentiated PAC and in patients with prior hormonal and/or radiation therapy. The purpose of this study is to characterize the cytopathology of metastatic PAC as it has not been documented in large series. Fifty cases of metastatic PAC with cytological specimens consisting of 41 fine-needle aspiration biopsies (FNAB), 6 pleural fluid aspirates, and 3 catheterized urine samples were reviewed and correlated with the surgical specimens and the clinical charts. Immunostaining for PSA, PAP, cytokeratin AE1/3, cytokeratin 7 (CK7), cytokeratin 20 (CK20), vimentin, and carcinoembryonic antigen (CEA) was done. Mean patient age was 77 ± 8 yr; serum PSA, 4.1 ± 2.3; and primary PAC Gleason score, 8.1 ± 1.5. Cytologically, the specimens consisted of cell clusters or cell sheets with overlapping uniform hyperchromatic nuclei with or without nucleoli. Twelve cases were not reactive to PSA and PAP and 44 cases displayed negative immunoreactivity to both CK7 and CK20. Carcinoid-like lesions and small cell carcinomas were seen in 4 cases and were misdiagnosed as nonprostatic origin based on the following features: negative immunoreactivity to PSA and PAP with or without positive reactivity to CEA, and different histopathological features when compared with the primary PAC. In addition to the frequency of high-grade PAC, awareness of the negative immunoreactivity to PSA and PAP, the discrepancy in the histopathological patterns between the primary and secondary tumors, especially the frequent neuroendocrine differentiation, are helpful features for the diagnosis of metastases of prostatic origin. Diagn. Cytopathol. 2007;35:91,95. © 2007 Wiley-Liss, Inc. [source] Fast determination of prominent carotenoids in tomato fruits by CEC using methacrylate ester-based monolithic columnsELECTROPHORESIS, Issue 22 2007Ana Maria Adalid Abstract In this study, the major carotenoids (,-carotene and lycopene) present in tomato fruits were analyzed by CEC with a methacrylate ester-based monolithic column. The effects of the porogenic solvent ratio, and the hydrophobicity of bulk monomer employed were examined on carotenoids separations. A fast separation of these analytes was achieved in less than 5.0,min in a mobile phase containing 35% THF, 30% ACN, 30% methanol, and 5% of a 5,mM Tris aqueous buffer, pH,8, with lauryl methacrylate-based monoliths. The CEC method was evaluated in terms of detection limit and reproducibility (retention time, area, and column preparation) with values below 1.6,,g/mL and 7.2%, respectively. The proposed procedure was successfully applied to the determination of both carotenoids in fruits of several tomato-related species and its usefulness to analyze large series of samples for nutritional quality screening trials in tomato breeding programs is demonstrated. To our knowledge, this is the first work that exploits the powerful and user-friendly monolithic technology for quality breeding and germplasm evaluation program purposes. [source] The spectrum of benign myoclonus of early infancy: Clinical and neurophysiologic features in 102 patientsEPILEPSIA, Issue 5 2009Roberto H. Caraballo Summary Purpose:, To redefine benign myoclonus of early infancy (BMEI) through analysis of clinical and neurophysiologic features in 102 patients with the aim to widen the spectrum of the syndrome, including a number of different clinical expressions of transient nonepileptic paroxysmal movements occurring in normal infants. Methods:, We recruited patients from one center in Argentina and two in Italy, including infants with normal neurologic and psychomotor development presenting with brief paroxysmal abnormal movements. Children with motor phenomena occurring only during sleep were excluded. Patients with abnormal interictal or ictal electroencephalography (EEG) findings were also excluded. The follow-up ranged from 2,40 years. Results:, One hundred and two infants (60 male) met the inclusion criteria. Age at onset ranged from 1,12 months, with a median age of 6.2 months. The following nonepileptic paroxysmal motor phenomena were recognized: (1) myoclonus, (2) spasms and brief tonic contractions, (3) shuddering, (4) atonia or negative myoclonus, (5) more than one type of motor phenomenon. In the majority of cases the episodes occurred only while awake and repeated several times a day. In 45 (44.1%) of the 102 cases contractions appeared in clusters. Conclusions:, Based on the analysis of clinical and EMG features in this large series of infants, we postulate that the spectrum of the syndrome is wider than initially suspected, and that the different transient motor manifestations and their correlation with different EMG patterns will allow recognition of this definitely benign condition comprising a variety of episodic motor phenomena in normal babies. [source] Acute myeloid leukaemia arising from a patient with untreated essential thrombocythaemiaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 6 2002Javier Bolaños-Meade Abstract:, Acute myeloid leukaemia (AML) is an uncommon complication of patients with essential thrombocythaemia (ET). We report a patient with ET which progressed into AML and who had only received a few days of therapy with hydroxyurea (HU) when diagnosed with ET. This is extremely rare, as in large series no patients who were left untreated for their ET developed this complication. This case supports the theory that AML transformation can be part of the natural history of ET in some cases. [source] Nucleophilic Addition of Water and Alcohols to Dicyanonitrosomethanide: Ligands with Diverse Bonding Modes in Magnetically Coupled d-Block ComplexesEUROPEAN JOURNAL OF INORGANIC CHEMISTRY, Issue 1 2010Anthony S. R. Chesman Abstract Ligands resulting from the transition-metal-promoted nucleophilic addition of water or an alcohol to dicyanonitrosomethanide ions (dcnm) have been utilised in the formation of a large series of polynuclear complexes. Addition of water to dcnm results in formation of carbamoylcyanonitrosomethanide (ccnm); deprotonation of this ligand gives amidocarbonyl(cyano)nitrosomethanide (acnm), which has been incorporated into the trinuclear complex [Cu3(acnm)2(dmae)2(H2O)2] [dmae = 2-(dimethylamino)ethoxide] (1) which shows strong antiferromagnetic coupling with an exchange coupling constant, J = ,500 cm,1. [Cu(acnm)(NH3)2], (2) marks the first instance of acnm facilitating the formation of a coordination polymer, namely a 1D chain with intramolecular hydrogen bonding. Attempts to synthesise 2 through different reaction conditions instead resulted in the mononuclear [Cu(acnm)(NH3)2(py)] (py = pyridine) (3). The addition of ethanol to dcnm results in cyano[imino(ethoxy)methyl]nitrosomethanide (cenm) which features in the mononuclear [Cu(cenm)2(H2O)2] (4) and polymeric {[Cu(cenm)2]2·H2O}, (5). The latter is the first example of the cenm ligand in a coordination polymer and has a highly unusual coordination mode through the nitrile groups and extremely weak antiferromagnetic coupling. {[Mn3(ccnm)2(EtOH)2(OAc)4]·2EtOH}, (6) and (Et4N)2[Cu(ccnm)4] (7) contain previously unobserved coordination modes of the ccnm ligand while the complex [Mn(cmnm)3Mn(bipy)(MeOH)](ClO4) (8) {cmnm = cyano[imino(methoxy)methyl]nitrosomethanide, bipy = 2,2,-bipyridine} displays weak antiferromagnetic coupling between manganese atoms with J = ,1.44 cm,1. A change in the solvent systems used in the synthesis of 7 results in the formation of the mononuclear complexes [Mn(bipy)2(dcnm)2] (9) or [Mn(bipy)2(H2O)(dcnm)](dcnm)·H2O (10) and [Mn(bipy)2(dcnm)(H2O)](dcnm) (11). The addition of ethlyene glycol monomethyl ether to dcnm gives cyano[imino(2-methoxyethoxy)methyl]nitrosomethanide (cgnm) and the formation of [Cu(cgnm)2(H2O)2] (12). [source] A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutationsEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2004M. Al Jumah Wilson disease (WD) is a hereditary disorder, with recessive transmission and genetic heterogeneity. Several mutations of ATP7B, the gene underlying WD, were reported in many ethnic groups. In this study, mutation screening in ATP7B of 56 Saudi Arabian WD patients was undertaken. The clinical data of all patients were recorded. The entire ATP7B coding sequence, including intron,exon boundaries were screened for mutation by the polymerase chain reaction (PCR)-based mutation detection technique and DNA sequencing. Thirty-nine patients were symptomatic at presentation and 17 subjects were pre-symptomatic siblings of affected patients. Fourteen patients had neurological, 11 patients had mixed (hepatic and neurological), and 14 patients had hepatic presentations. Family history suggestive of WD was present in 72% of cases and 68% had consanguineous parents. Genetic analysis showed disease-causing mutations in three exons (exons 8, 19 and 21) of the ATP7B gene in 28 patients (50%). Mutations in exons 21 (18 cases) and 19 (one case) were unique for Saudis. This large series of Saudi patients with WD has shown wide variability in the genomic substrate of WD. There is no correlation between genotype and clinical presentation. [source] Merging of E2 and E1cb Reaction Mechanisms: A Combined Theoretical and Experimental StudyEUROPEAN JOURNAL OF ORGANIC CHEMISTRY, Issue 32 2009Edoardo Mosconi Abstract By combining the results of kinetic measurements with DFT calculations we provide a clear-cut evidence of the merging between the E2 and E1cb reaction mechanisms for a large series of leaving groups. Our results solve a long-debated issue in chemical reactivity with profound implications both from a fundamental and biological point of view, thus paving the way to further investigations with different substrates.(© Wiley-VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2009) [source] Intrachromosomal amplification of chromosome 21 (iAMP21) may arise from a breakage,fusion,bridge cycleGENES, CHROMOSOMES AND CANCER, Issue 4 2007Hazel M. Robinson Intrachromosomal amplification of chromosome 21 (iAMP21), involving amplification of the RUNX1 gene and duplication of chromosome 21, dup(21q), defines a new cytogenetic subgroup in B-lineage acute lymphoblastic leukemia (ALL) with a poor prognosis. Characterization of this abnormality has become vital to ensure that the most accurate detection method is used. We have previously defined common regions of amplification and deletion of chromosome 21 in these patients, although the level and extent of amplification within the amplicon was highly variable. This study, using interphase fluorescence in situ hybridization (FISH) with chromosome 21 locus specific probes, substantiated these findings in a large series of patients and confirmed that the amplicon always included RUNX1. Thus, FISH with probes directed to the RUNX1 gene remains the most reliable detection method. Metaphase FISH, supported by G- and multiple color chromosomal banding (mBAND) revealed the patient specific morphology and genetic profile of the dup(21q) chromosomes, as well as the complexity of the intrachromosomal changes giving rise to them. These findings suggested that iAMP21 had arisen from a breakage,fusion,bridge cycle: a mechanism previously described in tumors, which we report for the first time in ALL. © 2007 Wiley-Liss, Inc. [source] Assessment by M-FISH of karyotypic complexity and cytogenetic evolution in bladder cancer in vitroGENES, CHROMOSOMES AND CANCER, Issue 4 2005Sarah V. Williams We carried out multiplex fluorescence in situ hybridization (M-FISH) and follow-up FISH studies on a large series of transitional cell carcinoma (TCC) cell lines and 2 normal urothelium,derived cell lines, several of which have not had karyotypes reported previously. M-FISH analysis, with appropriate follow-up, complements conventional cytogenetic analysis and array CGH studies, allowing a more accurate definition of karyotype. The detailed karyotypic data obtained will assist in choosing suitable cell lines for functional studies and identifies common losses, gains, breakpoints and potential fusion gene sites in TCC. We have shown changes in cell lines RT112 and DSH1 following prolonged culture, and differences in karyotype, between RT112 cultures obtained from different sources. We propose a model for the evolutionary changes leading to these differences. A comparison with the literature found other examples of differences in cell-line karyotypes between different sources. Nevertheless, several karyotypic changes were preserved between different sources of the same cell line and were also seen in more than one cell line. These may be the most important changes and include ,8p, +20, 4q,, 10p,, 16p, and breaks in 8p21. We carried out a more detailed follow-up of some regions, which showed involvement of 8p breaks and losses in 15 of 16 TCC cell lines but in neither of the normal urothelium,derived cell lines. Some changes represented distal loss, whereas others were small deletions. Further study of this region is warranted. Supplementary material for this article can be found on the Genes, Chromosomes and Cancer website at http://www.interscience.wiley.com/jpages/1045-2257/suppmat/index.html. © 2005 Wiley-Liss, Inc. [source] Cytogenetic analysis of 101 skull base tumorsHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 5 2008Ziv Gil MD Abstract Background. Skull base tumors are rare neoplasms and the cytogenetic data on these tumors are limited. The authors cytogenetically analyzed a large series of tumors and compared the findings with patients' pathologic data. Methods. The karyotypes of pathologically confirmed samples of 101 patients, who were operated for oncological extirpation of tumors, were analyzed using G-banding and spectral-karyotyping techniques. Results. Of the 67 malignant tumors, 32 (48%) had chromosomal aberrations, some with complex numerical and structural chromosomal anomalies. Recurrent chromosomal breakpoints were identified in squamous cell carcinomas, adenoid cystic carcinomas (ACCs), sinonasal undifferentiated carcinomas, chordomas, and sarcomas. Specific breakpoints established the diagnosis of various soft tissue sarcomas. Novel chromosomal aberrations were found in various other malignant and benign tumors. Conclusion. This study highlights the value of cytogenetic analysis for diagnosis of skull base tumors. The data add further information on the biological behavior of these rare neoplasms. © 2007 Wiley Periodicals, Inc. Head Neck, 2008 [source] Squamous cell carcinoma of the head and neck in never smoker,never drinkers: A descriptive epidemiologic studyHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 1 2008Kristina R. Dahlstrom BS Abstract Background. While the attributed risk factors for the vast majority of patients with squamous cell carcinoma of the head and neck (SCCHN) are smoking and alcohol abuse, there appears to be a rising proportion of SCCHN patients who report no significant smoking or drinking history. This study reports the demographic and potential risk factors of a large series of never smoker,never drinker (NSND) patients. Methods. All subjects were participants in a prospective epidemiologic study of incident SCCHN. We obtained demographic data, clinical characteristics, and potential etiologic factors for 172 NSND patients and 1131 ever smoker,ever drinker (ESED) patients. Results. NSND patients were more likely to be female and to present at extremes of age, but overall were significantly younger than ESED patients. NSND patients had a higher proportion of oral cavity and oropharyngeal cancers than ESED patients had. Eleven percent of NSND patients (17% of NSND men) reported regular use of noncigarette tobacco products or marijuana, 41% (45% of NSND women) reported regular environmental exposure to tobacco smoke, 24% (36% of NSND men) reported regular occupational exposures to carcinogens/toxins, and 30% had a history of gastroesophageal reflux disease. More than half the NSND patients with an oropharyngeal primary were serologically positive for human papillomavirus type 16. Conclusion. NSND patients with SCCHN are commonly young women with oral tongue cancer, elderly women with gingival/buccal cancer, or young to middle-aged men with oropharyngeal cancer. While several exposures studied may be important to the etiology of a subset of these cancers in NSND patients, it is likely that no single known factor is responsible for a majority of SCCHN in NSNDs. © 2007 Wiley Periodicals, Inc. Head Neck, 2008 [source] Structure,Activity Relationship in the Domain of Odorants Having Marine NotesHELVETICA CHIMICA ACTA, Issue 7 2007Jean-Marc Gaudin Abstract We synthesized or re-synthesized a large series of 2H -1,5-benzodioxepin-3(4H)-ones 9 (Scheme,1), 4,5-dihydro-1-benzoxepin-3(2H)-ones 10 (Schemes 3 and 4) and 5,6,8,9-tetrahydro-7H -benzocyclohepten-7-ones 11 (Schemes 5 and 6), since the lead compound for the olfactory note of perfumes based on marine accords is a well-known benzodioxepinone named Calone 1951® (9b). We meticulously described the odor profile of each synthesized compound and discussed relevant structure,odor relationships (Tables,1,3). In particular, we revealed a correlation between the conformation of the seven-membered ring and the activities of these compounds (Table,4 and Fig.,3). We also clarified the effect of the position and the size of the alkyl substituent at the aromatic ring. [source] Prognosis of follicular lymphomasHEMATOLOGICAL ONCOLOGY, Issue 2 2006Stefano Luminari Abstract Follicular lymphoma (FL) is as an indolent neoplasia with median survival measured in decades. Nevertheless, some patients have poor progression-free survival and overall survival. Several treatment approaches are proposed for patients with FL, however criteria to rationalize treatment decisions are lacking. Studies have been performed to build up prognostic indices that are useful for defining risk-adapted treatment recommendations. Available indices are based on parameters that have an independent role in predicting patient survival and that are variably correlated with the features of the disease, with the characteristics of the patient and with the effects of treatment. Two new prognostic indices have recently been proposed for FL: the Italian Lymphoma Intergroup (ILI) index and the Follicular Lymphoma International prognostic Index (FLIPI). Both indices are based on large series of patients and exhibit differences in their ability to discriminate between patients with different probabilities of survival. In recent years, with the advent of gene expression profile studies, our knowledge of the biology of FL is changing as novel data become available about the lymphoma cell and about the role of the microenvironment; these studies have already provided novel prognostic tools for identifying patients with more aggressive disease. Further data and large international cooperative studies are needed to translate into clinical practice the novel acquisitions of biology and therapeutics. Copyright © 2006 John Wiley & Sons, Ltd. [source] Alpha-methylacyl-CoA racemase: a multi-institutional study of a new prostate cancer markerHISTOPATHOLOGY, Issue 3 2004Z Jiang Aim :,To test whether ,-methylacyl-CoA racemase (AMACR) is a sensitive and specific marker of prostate cancer. Methods and results :,The expression levels of AMACR mRNA were measured by real-time polymerase chain reaction. A total of 807 prostatic specimens were further examined by immunohistochemistry specific for AMACR. Quantitative immunostaining analyses were carried out by using the ChromaVision Automated Cellular Imaging System and the Ariol SL-50 Imaging System, respectively. AMACR mRNA levels measured in prostatic adenocarcinoma were 55 times higher than those in benign prostate tissue. Of 454 cases of prostatic adenocarcinoma, 441 were positive for AMACR, while 254 of 277 cases of benign prostate were negative for AMACR. The sensitivity and specificity of AMACR immunodetection of prostatic adenocarcinomas were 97% and 92%, respectively. Both positive and negative predictive values were 95%. By automatic imaging analyses, the AMACR immunostaining intensity and percentage in prostatic adenocarcinomas were also significantly higher than those in benign prostatic tissue (105.9 versus 16.1 for intensity, 45.7% versus 0.02% and 35.03% versus 4.64% for percentage, respectively). Conclusions :,We have demonstrated the promising features of AMACR as a biomarker for prostate cancer in this large series and the potential to develop automated quantitative diagnostic tests. [source] Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort,HUMAN MUTATION, Issue 2 2005Olga Roche Abstract Hereditary angioedema (HAE) is a disease caused by defects in the C1 inhibitor gene (SERPING1/C1NH). We screened the entire C1NH gene for mutations in a large series of 87 Spanish families (77 with type I, and 10 with type II HAE) by SSCP, sequencing, Southern blotting, and quantitative multiplex PCR of short fluorescent fragments (QMPSF), and we characterized several defects at the mRNA level. We found large rearrangements in 13 families, and point mutations or microdeletions/insertions in 74 families. The 13 large rearrangements included nine exon deletions, of which at least eight were distinct, two were distinct exon duplications, and two were rearrangements whose precise nature could not be determined. We confirmed that exon 4 is particularly prone to rearrangements. Thirty-six mutations were unreported, and included 10 microdeletions/insertions, 10 missense, five nonsense, eight splicing, and three splicing or missense mutations. Moreover, we detected six novel uncharacterized sequence variants (USV). RT-PCR studies showed that in addition to several intronic splice site mutations tested, the exonic mutations c.882C>G and c.884T>G, located near the 3, end of exon 5, also produced exon skipping. This is the first evidence of SERPING1/C1NH mutations in coding regions that differ from the canonical splice sites that affect splicing, which suggests the presence of an exonic splicing enhancer (ESE) in exon 5. Hum Mutat 26(2), 1,10, 2005. © 2005 Wiley-Liss, Inc. [source] Revolution and evolution: 30 years of ileoanal pouch surgeryINFLAMMATORY BOWEL DISEASES, Issue 2 2006Simon P Bach MD Abstract Ileal pouch-anal anastomosis (IPAA) has become the standard of care for the 25% of patients with ulcerative colitis who ultimately require colectomy. IPAA is favored by patients because it avoids the necessity for a long-term stoma. This review examines how 3 decades of experience with IPAA has molded current practice, highlighting 5- and 10-year follow-up of large series to determine durability and functional performance, in addition to causes of failure and the management of complications. [source] Cyclooxygenase-2 inhibition inhibits PI3K/AKT kinase activity in epithelial ovarian cancerINTERNATIONAL JOURNAL OF CANCER, Issue 2 2010Shahab Uddin Abstract Cyclooxygenase-2 (COX-2) expression contributes to tumor growth and invasion in epithelial ovarian cancer (EOC). COX-2 inhibitors exhibit important anticarcinogenic potential against EOC, but the molecular mechanisms underlying this effect and relation with PI3-kinase/AKT signaling remain the subject of intense investigations. Therefore, the role of COX-2 in EOC and its cross talk with PI3-kinase/AKT pathway were investigated using a large series of EOC tissues in a tissue micro array (TMA) format followed by in vitro and in vivo studies using EOC cell lines and NUDE mice. Clinically, COX-2 was overexpressed in 60.3% of EOC and was significantly associated with activated AKT (p < 0.0001). Cox-1 expression was seen in 59.9% but did not associate with AKT. Our in vitro data using EOC cell line showed that inhibition of COX-2 by aspirin, selective inhibitor NS398 and gene silencing by COX-2 specific siRNA impaired phosphorylation of AKT resulting decreased downstream signaling leading to cell growth inhibition and induction of apoptosis. Finally, treatment of MDAH2774 cell line xenografts with aspirin resulted in growth inhibition of tumors in NUDE mice via down-regulation of COX-2 and AKT activity. These data identify COX-2 as a potential biomarker and therapeutic target in distinct molecular subtypes of ovarian cancer. [source] Epstein-Barr virus infection and risk of lymphoma: Immunoblot analysis of antibody responses against EBV-related proteins in a large series of lymphoma subjects and matched controlsINTERNATIONAL JOURNAL OF CANCER, Issue 8 2007Silvia de Sanjosé Abstract Epstein-Barr Virus (EBV) is consistently associated with distinct lymphoproliferative malignancies and aberrant EBV antibody patterns are found in most EBV cancer patients. We evaluate the detection of an abnormal reactive serological pattern to EBV (ab_EBV) infection and the risk of lymphoma in a multicentric case,control study. Serum samples were collected at study entry from 1,085 incident lymphoma cases from Spain, France, Germany, Czech Republic, Italy and 1,153 age, sex and country matched controls. EBV immunoglobulin G (IgG) serostatus was evaluated through a peptide-based ELISA combining immunodominant epitopes of EBNA1 (BKRF1) and VCA-p18 (BFRF3). Further, immunoblot analysis was performed to evaluate distinct antibody diversity patterns to EBV early antigens (EA), besides EBNA1, VCA-p18, VCA-p40 (BdRF1) and Zebra (BZLF1). Patients with chronic active EBV infection and aberrant EBV activity were characterized as having an abnormal reactive pattern (ab_EBV). Ab_EBV was observed in 20.9% of 2,238 included subjects with an increased proportion of cases presenting ab_EBV as compared to the control population (23.9% vs. 18.0% p = 0.001). Ab_EBV positivity was a risk factor for all lymphomas combined (odds ratio [OR] = 1.42, 95% confidence interval [CI]=1.15,1.74), and specifically for chronic lymphocytic leukaemia (OR = 2.96, 95%CI = 2.22,3.95). Lower levels of ab_EBV were observed for follicular lymphoma (OR = 0.38, 95%CI = 0.15,0.98). EBV may be involved in a larger subset of lymphomas among clinically immunocompetent subjects than previously thought, probably explained by an underlying loss of immune control of EBV latent infection. Ab_EBV is a useful tool to explore EBV imbalances preceeding or paralleling possible EBV associated oncogenic events. © 2007 Wiley-Liss, Inc. [source] Presence of high-risk human papillomavirus DNA in penile carcinoma predicts favorable outcome in survivalINTERNATIONAL JOURNAL OF CANCER, Issue 5 2006Anne P. Lont Abstract There is evidence that a subset of penile carcinomas is caused by infection with high-risk human papillomavirus (HPV). However, extensive studies on the possible influence of HPV infection on clinical outcome of penile cancer are lacking. This investigation is aimed to examine the prevalence of high-risk HPV in a large series of penile squamous-cell carcinomas (SCCs) and to determine the relationship between HPV and survival. Formalin-fixed, paraffin-embedded tumor specimens of 171 patients with penile carcinoma were tested for high-risk HPV DNA presence by GP5+/6+-PCR. The clinical course of the patients and the histopathological characteristics of the primary tumors were reviewed. High-risk HPV DNA was detected in 29% of the tumors, with HPV 16 being the predominant type, accounting for 76% of high-risk HPV containing SCCs. Disease-specific 5-year survival in the high-risk HPV-negative group and high-risk HPV-positive group was 78% and 93%, respectively (log rank test p = 0.03). In multivariate analysis, the HPV status was an independent predictor for disease-specific mortality (p = 0.01) with a hazard ratio of 0.14 (95% CI: 0.03,0.63). Our results indicate that the presence of high-risk HPV (29%) confers a survival advantage in patients with penile carcinoma. © 2006 Wiley-Liss, Inc. [source] Multiple eccrine hidrocystomas of the faceINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 2 2001Abdullah Alfadley MD, FRCP(C) Background Multiple eccrine hidrocystomas of the face are a rare facial dermatosis for which no recent large series of cases has been reported. Objective To describe the clinicopathologic features of five cases of multiple eccrine hidrocystoma and to emphasize their similar characteristics. Methods The clinical and histologic features of five women with multiple eccrine hidrocystomas of the face are described. Results All cases were middle-aged women with numerous, asymptomatic, skin-colored to bluish, papulonodular skin lesions, ranging from 2 to 5 mm in diameter, and mainly centrifacial in distribution. Histopathologically, all cases showed unilocular cysts in the dermis lined by two layers of cuboidal cells. Staining for S-100 protein was negative in the cyst wall in all cases. One case was treated with topical 1% atropine for 3 weeks with no significant improvement. No systemic side-effects were observed during this treatment. Conclusions Multiple eccrine hidrocystomas are a rare condition which might be confused clinically and histopathologically with apocrine hidrocystomas. To date, no effective treatment has been reported. [source] Determination of atomic valence indices from population analyses at correlated levelJOURNAL OF COMPUTATIONAL CHEMISTRY, Issue 15 2003R. Bochicchio Abstract This work carries out a study of atomic valences within molecular systems based on Mulliken and topological population analyses at correlated level. The use of the unpaired electron densities leads to suitable relationships between valences, free valence indices, and bond indices, which turn out to be quite useful for computational purposes. The results arising from both methods at correlated and uncorrelated levels are compared in a large series of chemical compounds. Several interesting conclusions are drawn out and analyzed in detail. © 2003 Wiley Periodicals, Inc. J Comput Chem 24: 1902,1909, 2003 [source] Immunoreactivity of CD99 in invasive malignant melanomaJOURNAL OF CUTANEOUS PATHOLOGY, Issue 10 2006Anne E. Wilkerson Background:, CD99, also known as p30/32, is a glycoprotein product of the MIC2 gene. It was originally utilized in immunohistochemistry as a unique marker for Ewing sarcoma, other primitive neuroectodermal tumors, and subsequently in other tumors. Its expression in malignant melanoma (MM) has not been well documented, with just two isolated cases of MM recently reported. Recent studies have documented CD99 expression in a significant percentage of atypical fibroxanthomas (AFX), posing potential diagnostic problems in differentiating these two entities. As mistaking MM for AFX based on immunohistochemical staining pattern has significant consequences, we sought to determine the percentage of invasive MM in our archives that have this staining pattern. Methods:, Seventy-eight cases of invasive melanoma were retrieved from our files. Each case was stained with mouse anti-human CD99 and evaluated for membranous expression. Results:, Our evaluation revealed that 47 of 78 MM cases (60%) stain positive for CD99. Conclusion:, This study is the first to demonstrate, in a large series, the prevalence of CD99 expression in primary cutaneous melanoma. Additionally, this introduces in the histologic differential diagnosis of CD99 expressing dermal spindle cell lesions. [source] Basaloid neoplasms in nevus sebaceusJOURNAL OF CUTANEOUS PATHOLOGY, Issue 7 2000Steven Kaddu Background: Nevus sebaceus (NS) (organoider nevus) may frequently be associated with the development of a number of benign and malignant neoplasms among which basaloid neoplasms are the most common. Histopathologic criteria for diagnosis and classification of basaloid proliferations arising in NS are still debated. Most previous investigators have considered them to represent mainly basal cell carcinomas (BCCs). On the contrary, a number of recent authors have proposed that most basaloid neoplasms in NS exhibit predominantly morphologic features implying benignancy, thus representing trichobalstomas (TBs). In this study, we attempted to characterize better the histopathologic features of basaloid neoplasms in NS in a large series based on current morphologic criteria. Methods: Three-hundred and sixteen cases of NS seen over 19 years were consecutively sampled and reviewed for basaloid neoplasms. Twenty-four cases of basaloid neoplasms in NS were identified and categorized based on current histopathologic criteria either as TB or BCC. For comparison of histopathologic features, 37 solitary TB were also studied. Results: Following histopathologic analysis, 22 cases were categorized as TB (91.6%, 10 males, 12 females; mean age 40.8 years, range 19,78 years) and 2 cases as BCC (8.4%, 1 male, 1 female; 32 years and 40 years). Clinical features in both groups were generally similar. The lesions presented exclusively on the head and neck as skin colored to pigmented papules or nodules within NS (scalp in 19 TB cases and 1 BCC case; face in 2 TB cases and 1 BCC case; neck in 1 TB case). Histopathologically, TB in NS were characterized by smooth-bordered basaloid aggregations with either a nodular and/or a superficial pattern, abundant fibrous stroma with focal clefts within the stroma, and prominent features of limited follicular differentiation (rudimentary follicular germs in concert with papillae). In contrast, BCC in NS showed basaloid aggregations that vary markedly in size and shape, scant fibrous stroma, focal mucinous clefts between basaloid aggregations and surrounding stroma, and lack of prominent rudimentary follicular germs in concert with papillae. Remarkably, sections in a few cases of TB showed features occasionally found in BCCs but presently widely considered to be unspecific (e.g., ulceration, cystic degeneration, and focal clefts between basaloid aggregations and surrounding stroma). Two cases of TB in NS were associated with a sebaceoma and 1 case with a desmoplastic trichilemmoma. Follow-up data in 14 TB cases and 2 BCC cases (mean follow-up 28.8 months; range 1 to 160 months) revealed no local recurrences or distant metastases. Conclusion: Our study confirms that the vast majority of the basaloid neoplasms arising in NS show clear-cut morphologic criteria for TB, whereas only a few cases display histopathologic features consistent with BCC. In a minority of cases, basaloid neoplasms with overall morphologic features of TB may present problems in diagnosis when they exhibit a few histopathologic features traditionally associated with BCC or when they occur in combination with other adnexal neoplasms. [source] Characterization of a human monoclonal antibody obtained after immunization with plasma vaccine and a booster with recombinant-DNA hepatitis B vaccineJOURNAL OF MEDICAL VIROLOGY, Issue 3 2002R.A. Heijtink Abstract A human monoclonal antibody type IgG4, designated 1Ff4, was obtained by Epstein Barr virus transformation of peripheral blood lymphocytes from a hepatitis B vaccinee (HB-VAX: plasma-derived vaccine) after one boost of yeast recombinant DNA derived vaccine (Engerix-B). 1Ff4 binds preferentially to HBsAg/adw2 and HBsAg/ayw1. In binding experiments, it competes with antibodies induced by vaccination with HB-VAX-DNA (yeast recombinant) and HB-VAX (plasma-derived vaccine). 1Ff4 competes in part with a monoclonal antibody for the w/r region. Partial inhibition of binding of HBsAg/adw2 to solid phase anti-HBs was detected, resembling inhibition obtained using other human monoclonal specific for the "a"-loop. 1Ff4 does not bind to linear peptides covering the two "a"-loops or to an adw2/G145R mutant, its binding to wild type HBsAg strongly depends on the presence of disulphide bonds. In a large series of HBsAg-positive samples from an endemic area, 1Ff4 antibodies were successfully used to discriminate between an adw2 and an adrq+ strain. The characterisation of 1Ff4 and other human monoclonal anti-HBs antibodies may help to understand the fine specificity of protective antibodies elicited by immunization. J. Med. Virol. 66:304-311, 2002. © 2002 Wiley-Liss, Inc. [source] Granular cell tumor of the oral cavity: updated immunohistochemical profileJOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 1 2009Marilena Vered Background:, Granular cell tumor (GCT) is a benign lesion that occurs at different body sites with preponderance to the oral cavity. It is generally believed to be of schwann cell/neural cell origin. We used a large panel of both traditional and recently developed antibodies in an attempt to trace the origin of GCTs on the basis of their immunoprofile. Methods:, The patients' demographic data and the cytological and architectural features of the lesions were analyzed in a large series of oral GCTs (n = 68). Forty-two lesions were also submitted to a panel of immunohistochemical stains with antibodies against S-100, CD-68 (KP-1 and PG-M1), vimentin, calretinin, NKI/C3, PGP9.5, p75/NGFR and inhibin-,. Results:, The tongue was the most common location of oral GCTs (81%). The granular cells demonstrated a wide array of cytological features in terms of cell shape and position of the nucleus. In addition, the lesions showed different architectural patterns, including ,infiltration' with satellite nodules. Interestingly, no recurrences were reported, even in lesions that were not completely excised. Granular cells were usually found to be strongly and diffusely positive for p75, vimentin, calretinin and NKI/C3, inhibin-,, PGP9.5, and S-100. Conclusions:, Immunoreactivity of the granular cells to a broad panel of antibodies that characterize different tissues does not confirm any particular cell type for the histogenetic origin of GCTs. Furthermore, GCTs could be regarded as lesions that reflect a local metabolic or reactive change rather than a true neoplasm. [source] Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 73JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2003C Inglese Cryoglobulinemic neuropathy is probably the commonest form of vasculitic neuropathy in Mediterranean countries, as usually related to the widespread hepatitis C virus (HCV) infection. We describe the spectrum of manifestations in a large series of patients with cryoglobulinemic neuropathy, also analyzing the impact of comorbid factors, which are quite frequent in HCV-related mixed cryoglobulinemia. The cohort included 60 patients (10 men, 50 women) with peripheral neuropathy associated with mixed cryoglobulinemia as main or sole cause (type 2 in 36 cases, type 3 in 4, not typized in 20), HCV-related in all patients but 8 (3 men and 5 women). Median age of patients was 65 years (range 41,85), and median age at onset of neuropathy was 59 (range 40,84). Peripheral neuropathy represented an onset manifestation of mixed cryoglobulinemia in about half patients. The most frequent clinical pattern was pure sensory neuropathy in 40 patients, including 4 patients with prominent ataxia; sensory neuropathy was asymmetrical in distribution in 9 patients, and in 14 patients sensory action potentials (SAPs) of the sural nerve were normal, suggesting selective involvement of the small sensory fibers. The remaining patients had sensorimotor neuropathy (15 cases) and mononeuropathy multiplex (5 cases). Positive sensory symptoms and restless legs syndrome were the most common manifestations. Neurophysiological study showed axonal degeneration of varying severity in all patients. In 20 patients, additional causes of neuropathy were present, including type 2 diabetes (5 patients), glucose intolerance (6 patients), non-Hodgkin lymphoma (3 patients), and alcohol (2 patients). With respect with this subset of patients, in "pure" cryoglobulinemic neuropathy there was more often a pattern of sensory neuropathy (31/40 vs. 6/20; p = 0.001), with more frequent asymmetrical distribution (9 vs 0; p = 0.05) and small fiber involvement (11 vs 3). Severity of neuropathy, as judged on the basis of the Rankin scale and of neurophysiological changes, was similar in the two subgroups. Our study confirms that sensory neuropathy, often asymmetrical, is the most common clinical pattern in cryoglobulinemic neuropathy, and is consistently present in pure cryoglobulinemic neuropathy rather than in patients with other associated causes of neuropathy; in these latter, paradoxically, clinical and neurophysiological impairment seems not greater than in pure cryoglobulinemic neuropathy. [source] Simultaneous quantification of the main organic acids and carbohydrates involved in tomato flavour using capillary zone electrophoresisJOURNAL OF THE SCIENCE OF FOOD AND AGRICULTURE, Issue 10 2002Salvador Roselló Abstract A capillary zone electrophoresis (CZE) procedure for the simultaneous determination of the major organic acids (oxalate, malate and citrate) and carbohydrates (fructose, glucose and sucrose) in Lycopersicon fruits is reported. Comparison of this method with routine HPLC methods indicates that the CZE method offers several attractive features (speed, resolution, sensitivity and cost) which significantly improve the determination of these compounds. Detection limits were better than 1.6,µg,ml,1 for organic acids and from 13 to 24,µg,ml,1 for carbohydrates; repeatabilities were better than 2.1% for migration times and between 1.4 and 7.3% for peak areas. The proposed protocol is very useful to characterise large series of tomato samples not only in breeding programmes but also in systematic and routine analysis in the tomato industry. © 2002 Society of Chemical Industry [source] | ||||||||||||||||||||||||||||||||||||||||