Search

Introduction: Patients with impulse control deficits often show cognitive abnormalities especially in executive abilities. One possibility to examine the underlying neurophysiological mechanisms is to assess evoked potentials. In the present study an adapted go/nogo-paradigm was used to investigate electrophysiological correlates of voluntary selection and behaviour control processes in patients suffering from alcohol dependence and attention deficit hyperactivity disorder (ADHD). Methods: 15 patients with alcohol dependence, 15 adult patients with ADHD and 15 control persons were included into the study. Patients with alcoholism were examined twice: before and after an inpatient detoxification. The participants performed a go/nogo task, comprising three different conditions: Apart from the go-condition (button press required) and the nogo-task (inhibition of a behavioural response), a voluntary selection task was included in which participants were allowed to freely decide, whether to press the response button or not. Results and discussion: Response inhibition and voluntary selection processes were related to a fronto-central negativity after 200 ms (N2) and a positivity after 300 ms (P3) in healthy subjects. In patients, the P3 amplitude was reduced compared to the controls. In addition, alcohol dependent patients did not show a N2 potential. The results indicate fronto-central dysfunctions dysfunctions in either patient group. However, different neuronal processes seemed to be affected in patients with ADHD and patients with alcoholism. [Copyright &y& Elsevier]

A letter to the editor is presented which discusses the medical case of a 71-year-old female patient presented with insect bite-like reactions with B-cell chronic lymphocytic leukaemia and was diagnosed with neoplastic B cells through in situ hybridization analysis.

We present a 20-year-old man with a rare variant of multiple myeloma with peculiar spindle cell morphology and sarcomatoid growth. The diagnosis of multiple myeloma was substantiated by clinical examinations. The patient was treated with several therapeutic trials including autologous stem cell support. Unfortunately, he developed a disseminated aspergillosis of the lungs and died of fatal lung bleeding. We recommended that "sarcomatous" multiple myeloma be considered in cases of "unclassifiable" sarcomatous tumors of the bone marrow. [ABSTRACT FROM AUTHOR]

The article presents a case study of newborn female who was diagnosed with tumor in her right lateral ventricle. It states that the infant underwent several procedures and tests such as sonography, magnetic resonance imaging (MRI) and digital subtraction angiography (DSA). It says that the tumor has been successfully embolized and resected without complications.

17β-hydroxysteroid dehydrogenase 3 (17β-HSD 3) deficiency is a rare cause of 46,XY disorders of sex development (DSD). At puberty, these patients experience a surge of androstenedione and also testosterone, leading to substantial virilization. The origin of testosterone synthesis in these patients remains elusive. We investigated the expression of the isoenzyme AKR1C3 (17β-HSD 5) in the testis and patient-derived genital skin fibroblasts (GSF) as well as the ability of GSF to synthesize testosterone. Supernatants of GSF cultures and serum samples of one patient before and after gonadectomy were analyzed by liquid and gas chromatography/mass spectrometry. The androgenic potential of GSF-derived supernatants was also assessed by androgen receptor-mediated transactivation of a reporter gene in transiently transfected Chinese hamster ovary cells. Although AKR1C3 is expressed both in the testes and in GSF, androstenedione is rapidly metabolized and is not synthesized to testosterone. The transactivation potential of GSF supernatants towards the androgen receptor is declining within 48 h. However, under testis-equivalent androstenedione concentration, testosterone can be synthesized in 17β-HSD 3-negative GSF. After gonadectomy, both androstenedione and testosterone decline rapidly in vivo. In 17β-HSD 3 deficiency, relevant amounts of testosterone are synthesized most probably through AKR1C3 in the testis and not peripherally in GSF. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Differentiation between lymphadenopathy in potentially life-threatening systemic lupus erythematosus (SLE) and self-limiting necrotizing lymphadenitis, also called Kikuchi-Fujimoto disease (KFD), is difficult. In the past, co-occurrence of SLE and KFD has been described repeatedly in case reports. Here, we report a case of necrotizing lymphadenitis, describe the clinical and histopathologic features in detail and discuss the current literature. KFD may in fact be a histopathologic characteristic of SLE supporting the hypothesis that KFD is a rare manifestation of SLE. To clarify whether KFD is the same entity as lupus lymphadenitis, more cases with SLE and lymphadenopathy should be examined in detail. [ABSTRACT FROM AUTHOR]

Aims: Inguinal lymph nodes are considered to be problematic for the diagnosis of lymphoma due to architectural changes resulting from previous inflammatory processes. The aim was to investigate the morphology and immunophenotype of follicular lymphomas (FL) in order to clarify whether FL presenting in inguinal nodes differs from FL biopsies from other sites. Methods and results: A total of 219 FLs were studied, comprising 78 biopsy specimens of inguinal lymph nodes and 141 from other sites. All samples were assessed for growth pattern, grade, sclerosis and immunophenotype (Bcl-2, CD10, CD23, Mib-1). Cases negative for Bcl-2 were analysed by polymerase chain reaction and fluorescence in situ hybridization. In comparison with the biopsies from other regions, we found a significantly increased number of CD23+ FLs in samples of inguinal lymph nodes (38% versus 21%). Expression of CD23 was more frequently detected in grade 1 FLs than in other grades (grade 1, 37%; grade 2, 18%; grade 3, 23%; transformed, 6%). Other immunohistochemical parameters, however, did not differ between the two groups. Conclusion: There is an unexpectedly high frequency of CD23 expression in FL in general, which is even more pronounced in inguinal nodes. [ABSTRACT FROM AUTHOR]

Anaplastic large cell lymphoma (ALCL) is an entity of non-Hodgkin lymphomas (NHL) that often occurs in young children and adolescents. In the majority of cases, ALCL are of T-cell origin and contain the t(2;5)(p23;q35) leading to an NPM-ALK fusion or variant ALK translocations. In addition, there is an ALK-negative subtype of ALCL. The anaplastic lymphoid cell line TS1G6 established by interleukin (IL)-9 transfection of T-helper cells represents a murine model of this subtype. Here, we describe the cytogenetic features of this cell line using spectral karyotyping (SKY) and single-color fluorescence in situ hybridization (FISH). We show that TS1G6 cells exhibit a hypotetraploid karyotype with complex structural alterations. Several unbalanced translocations involved the chromosomal region 14E5, and different translocation partners, i.e. X?A6, 3A3 and 8A1. FISH analysis using a BAC clone containing c-myc confirmed the presence of six copies, but also demonstrated that two loci were irregularly located, indicating that additional intrachromosomal rearrangements had occurred. Moreover, a duplication of the region XF2∼3 was identified. Furthermore, six chromosomes 15 were found, representing a trisomy 15 in a tetraploid chromosome complement, indicating an altered gene dosage of the oncogene c-myc located in region 15D3. Copyright © 2006 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We present the first large-scale radiative transfer simulations of cosmic reionization, in a simulation volume of . This is more than a two orders of magnitude improvement over previous simulations. We achieve this by combining the results from extremely large, cosmological, N-body simulations with a new, fast and efficient code for 3D radiative transfer,c2-ray, which we have recently developed. These simulations allow us to do the first numerical studies of the large-scale structure of reionization which at the same time, and crucially, properly take account of the dwarf galaxy ionizing sources which are primarily responsible for reionization. In our realization, reionization starts around , and final overlap occurs by . The resulting electron-scattering optical depth is in good agreement with the first-year Wilkinson Microwave Anisotropy Probe ( WMAP) polarization data. We show that reionization clearly proceeded in an inside-out fashion, with the high-density regions being ionized earlier, on average, than the voids. Ionization histories of smaller-size (5–10 comoving Mpc) subregions exabit a large scatter about the mean and do not describe the global reionization history well. This is true even when these subregions are at the mean density of the universe, which shows that small-box simulations of reionization have little predictive power for the evolution of the mean ionized fraction. The minimum reliable volume size for such predictions is ∼30 Mpc. We derive the power spectra of the neutral, ionized and total gas density fields and show that there is a significant boost of the density fluctuations in both the neutral and the ionized components relative to the total at arcmin and larger scales. We find two populations of H ii regions according to their size, numerous, mid-sized (∼10-Mpc) regions and a few, rare, very large regions tens of Mpc in size. Thus, local overlap on fairly large scales of tens of Mpc is reached by , when our volume is only about 50 per cent ionized, and well before the global overlap. We derive the statistical distributions of the ionized fraction and ionized gas density at various scales and for the first time show that both distributions are clearly non-Gaussian. All these quantities are critical for predicting and interpreting the observational signals from reionization from a variety of observations like 21-cm emission, Lyα emitter statistics, Gunn–Peterson optical depth and small-scale cosmic microwave background secondary anisotropies due to patchy reionization. [ABSTRACT FROM AUTHOR]

We describe a patient initially diagnosed with a chronic myeloproliferative disorder in the accelerated phase. Cytogenetic analysis showed the presence of two independent clones. One clone contained a typical Philadelphia (Ph) chromosome due to t(9;22)(q34;q11), as the sole abnormality which was proven molecularly to result in the b2a2-BCR/ABL fusion. The other clone displayed a complex karyotype with several structural and numerical aberrations including trisomy 11 and 22 but lacking a t(9;22) or any other structural abnormalities involving chromosomes 9 and 22. Fluorescence in situ hybridization demonstrated that the t(9;22) was present only in cells with two copies of chromosomes 11 and 22. In contrast, cells with trisomies 11 and 22 lacked evidence for a BCR/ABL fusion. Based on the genetic findings, simultaneous chronic and acute myelocytic leukemias were diagnosed rather than a blastic phase of a chronic myelocytic leukemia. [Copyright &y& Elsevier]

Reports on an exceptionally rare case of a primary cutaneous T-cell lymphoma of the penis. Classification of the lymphoma as Woringer-Kolopp-like mycosis fungoides with in situ transformation to an in part CD30+ large T-cell lymphoma resembling transformation of mycosis fungoides to high-grade lymphoma.

Discusses frequent allelic loss of the BCL10 gene in mantle cell lymphomas. Detection of a translocation in subsets of B-lymphocytic neoplasms; Possibility of acceleration of tumor progression by haploinsufficiency.

Background: Molecular analyses of the c-kit and PDGFRalpha genes have contributed greatly to our understanding of the development of gastrointestinal stromal tumors (GISTs), but little is known about their malignant potential. The aim of our study was to evaluate cell cycle regulators as potential prognostic markers in GISTs.Methods: We investigated 104 KIT positive GISTs from various tumor sites in immunoassays on CD34, Ki67 and particularly on P53, BCL-2 and Cyclin D1. The results were compared with tumor size, mitotic rate, proliferative activity, histological subtype, nuclear atypia and risk assessment according to Fletcher and Miettinen. Occurrence of metastases and survival were also taken into account.Results: The expression of P53 was significantly correlated with high risk criteria towards malignancy and epithelioid differentiation in GISTs. Likewise P53 label correlated significantly with the established prognostic indicators: tumor size, mitotic rate, nuclear atypia and proliferative activity. Regarding the site of tumor presentation, P53 was not a decisive factor. BCL-2 and Cyclin D1 expression was not related to any of the prognostic indicators.Conclusion: The present data identified P53 being a recommendable marker for predicting the risk of malignancy in GISTs. In addition, we found P53 significantly correlated with epithelioid tumor differentiation, independent of tumor site. BCL-2 and Cyclin D1, however, did not prove to be deciding markers for diagnosis and prognosis. [ABSTRACT FROM AUTHOR]