Search PubMed⌕ Search

Biomedical subjects

R Berger

Publications and source records attributed to R Berger.

At least 19 recordsLinked to original sources
PubMed2007

[Auditory processing disorders : Consensus statement by the German Society for Phoniatry and Paedaudiology].

The consensus statement published by the German Society for Phoniatry and Paedaudiology in the year 2000 has been revised and actualized. The revised version takes into account current scientific and clinical findings. Aspects of the definition of auditory processing disorders (APD) are described extensively. These include symptoms, anamnestic information and diagnostic steps (preliminary examinations, subjective and objective audiological procedures). APD can appear in different forms, some of which can be classified within subtypes. Furthermore, factors which need to be considered in order to differentiate between APD and other diseases are specified. Therapeutic intervention possibilities which are rated according to their prognostic values conclude the article.

Audiology↗
PubMed2006

Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRbeta-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique.

Recently, we and others described a new chromosomal rearrangement, that is, inv(7)(p15q34) and t(7;7)(p15;q34) involving the T-cell receptor beta (TCRbeta) (7q34) and the HOXA gene locus (7p15) in 5% of T-cell acute lymphoblastic leukemia (T-ALL) patients leading to transcriptional activation of especially HOXA10. To further address the clinical, immunophenotypical and molecular genetic findings of this chromosomal aberration, we studied 330 additional T-ALLs. This revealed TCRbeta-HOXA rearrangements in five additional patients, which brings the total to 14 cases in 424 patients (3.3%). Real-time quantitative PCR analysis for HOXA10 gene expression was performed in 170 T-ALL patients and detected HOXA10 overexpression in 25.2% of cases including all the cases with a TCRbeta-HOXA rearrangement (8.2%). In contrast, expression of the short HOXA10 transcript, HOXA10b, was almost exclusively found in the TCRbeta-HOXA rearranged cases, suggesting a specific role for the HOXA10b short transcript in TCRbeta-HOXA-mediated oncogenesis. Other molecular and/or cytogenetic aberrations frequently found in subtypes of T-ALL (SIL-TAL1, CALM-AF10, HOX11, HOX11L2) were not detected in the TCRbeta-HOXA rearranged cases except for deletion 9p21 and NOTCH1 activating mutations, which were present in 64 and 67%, respectively. In conclusion, this study defines TCRbeta-HOXA rearranged T-ALLs as a distinct cytogenetic subgroup by clinical, immunophenotypical and molecular genetic characteristics.

Adolescent↗
PubMed2006

Brain pH has a significant impact on human postmortem hippocampal gene expression profiles.

Studies of neurobiological disorders in the brain, including schizophrenia, rely on the use of postmortem brain tissues, in which an understanding of the effects of various pre- and postmortem variables on gene expression is critical. In several different brain regions, pH has been shown to have a large effect on postmortem brain gene expression patterns. One region that has not yet been evaluated in such studies is the hippocampus, a region often implicated in schizophrenia research. In the present study, we show that postmortem brain pH is similar across different brain regions. Brain pH accounted for greater variation in hippocampal gene expression profiles than any other parameter evaluated, including gender and schizophrenia. The predictive value of brain pH in an independent sample set was also greater than the disease, demonstrating that pH represents one of the most important control parameters in human postmortem gene expression studies in schizophrenia.

Adult↗
PubMed2006

Laparoscopic adjustable gastric band versus laparoscopic Roux-en-Y gastric bypass: ends justify the means?

BACKGROUND: In the United States, the most frequently performed bariatric procedure is the Roux-en-Y gastric bypass (RYGB). Worldwide, the most common operation performed is the laparoscopic adjustable gastric band (LAGB). The expanding use of LAGB is probably driven by the encouraging data on its safety and effectiveness, in contrast to the disappointing morbidity and mortality rates reported for RYGB. The aim of this study was to evaluate the results of LAGB versus RYGB at a single institution. METHODS: Between November 2000 and July 2004, 590 bariatric procedures were performed. Of these, 120 patients (20%) had laparoscopic RYGB and 470 patients (80%) had LAGB. A retrospective review was performed. RESULTS: In the LAGB group, 376 patients (80%) were female, and the mean age was 41 years (range, 17-65). In the RYGB group, 110 patients (91%) were female, and the mean age was 41 years (range, 20-61). Preoperative body mass index was 47 +/- 8 and 46 +/- 5, respectively (p = not significant). Operative time and hospitalization were significantly shorter in LAGB patients (p < 0.001). Complications and the need for reoperation were comparable in both groups. Weight loss at 12, 18, 24, and 36 months for LAGB and RYGB was 39 +/- 21 versus 65 +/- 13, 39 +/- 20 versus 62 +/- 17, 45 +/- 25 versus 67 +/- 8, and 55 +/- 20 versus 63 +/- 9, respectively. CONCLUSIONS: The current study demonstrates that LAGB is a simpler, less invasive, and safer procedure than RYGB. Although mean percentage excess body weight loss (%EBWL) in RYGB patients increased rapidly during the first postoperative year, it remained nearly unchanged at 3 years. In contrast, in LAGB patients weight loss was slower but steady, achieving satisfactory %EBWL at 3 years. Therefore, we believe that LAGB should be considered the initial approach since it is safer than RYGB and is very effective at achieving weight loss.

Adolescent↗
PubMed2006

Interleukin-2 receptor beta chain locus rearrangement in a T-cell acute lymphoblastic leukemia.

A translocation t(1;22)(p13;q13) was detected in a child with T-cell acute lymphoblastic leukemia (T-ALL). FISH studies showed that the breakpoint was located in the 5' part of the interleukin-2 receptor beta chain (IL2RB) locus, but could only be located distal to 1p13.3 on the partner chromosome. This is the first case of the IL2RB locus rearrangement in T-ALL. The localization of the breakpoint suggests that the chromosomal translocation results in deregulation of IL2RB expression.

Child↗
PubMed2006

[Human cytogenetics. From 1956 to 2006].

The correct enumeration of human chromosomes, only established in 1956, has marked the starting point of the modern cytogenetics. The introduction of banding techniques, then of in situ hybridization techniques, and now of genomic microarray technology allowed a dramatic development of cytogenetics of which the main applications to basic and medical research are evoked in this review.

Cell Transformation, Neoplastic↗
PubMed2006

Loss of the NPM1 gene in myeloid disorders with chromosome 5 rearrangements.

The assignment with chromosome banding techniques of the breakpoints of the recurrent translocation t(3;5) which leads to NPM1/MLF1 gene fusion in myeloid malignancies has not been unequivocal. In order to assess whether this is due to uncertainty in interpretation of the observed banding pattern or whether it reflects true genomic heterogeneity, we decided to analyze the breakpoint positions using fluorescence in situ (FISH) techniques in eight patients with myeloid malignancies and rearrangements of chromosomes 3 and 5. In three patients, colocalization of the NPM1 and MLF1 spanning BACs was demonstrated and NPM1/MLF1 fusion shown by PCR in one while in the remaining cases breakpoints were located outside the NPM1 and MLF1 loci. Interestingly, loss of a copy of the NPM1 gene was found in three of these latter patients. This findings suggest that haploinsufficiency of NPM1 may play a role in subtypes of myelodysplasias and leukemias.

Adult↗
PubMed2006

NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.

The NUP98 gene is fused with 19 different partner genes in various human hematopoietic malignancies. In order to gain additional clinico-hematological data and to identify new partners of NUP98, the Groupe Francophone de Cytogénétique Hématologique (GFCH) collected cases of hematological malignancies where a 11p15 rearrangement was detected. Fluorescence in situ hybridization (FISH) analysis showed that 35% of these patients (23/66) carried a rearrangement of the NUP98 locus. Genes of the HOXA cluster and the nuclear-receptor set domain (NSD) genes were frequently fused to NUP98, mainly in de novo myeloid malignancies whereas the DDX10 and TOP1 genes were equally rearranged in de novo and in therapy-related myeloid proliferations. Involvement of ADD3 and C6ORF80 genes were detected, respectively, in myeloid disorders and in T-cell acute lymphoblastic leukemia (T-ALL), whereas the RAP1GDS1 gene was fused to NUP98 in T-ALL. Three new chromosomal breakpoints: 3q22.1, 7p15 (in a localization distinct from the HOXA locus) and Xq28 were detected in rearrangements with the NUP98 gene locus. The present study as well as a review of the 73 cases previously reported in the literature allowed us to delineate some chromosomal, clinical and molecular features of patients carrying a NUP98 gene rearrangements.

Adolescent↗
PubMed2006

Copeptin, a fragment of the vasopressin precursor, as a novel predictor of outcome in heart failure.

BACKGROUND: Natriuretic peptides, particularly brain natriuretic peptide (BNP), are elevated in heart failure and therefore considered to be excellent predictors of outcome. Vasopressin is also known to be related to the severity of heart disease. Copeptin--an inactive fragment of the vasopressin precursor--has not been previously investigated in the context of heart failure. MATERIALS AND METHODS: We prospectively studied 268 patients with advanced heart failure after they had been discharged from the hospital. We investigated the ability of BNP and copeptin to predict death, re-hospitalization due to heart failure, and a combination of the two endpoints. RESULTS: Over a mean follow-up period of 15.8 months (up to 24 months), 83 patients died, 122 patients experienced worsening of heart failure, and 145 patients achieved the combined endpoint. Univariate predictors of death were copeptin, BNP, age and impaired kidney function. In multivariate analysis, copeptin (chi(2) = 16, P < 0.0001) and age (chi(2) = 4, P < 0.05) were independent predictors. Univariate predictors of re-hospitalization due to heart failure were copeptin, BNP, age and impaired kidney function. Furthermore, in multivariate analysis BNP (chi(2) = 18, P < 0.0001), age (chi(2) = 11.8, P < 0.001) and copeptin (chi(2) = 4.2, P < 0.05) were found to be independent predictors. CONCLUSION: Our study is the first to show that copeptin is an excellent predictor of outcome in advanced heart failure patients. Its value is superior to that of BNP in predicting death and a combined endpoint, although BNP is still suitable for predicting chronic heart failure (CHF) re-hospitalization. Our data imply that vasopressin antagonism might be a new target to improve outcome in this population.

Aged↗
PubMed2006

A review of nearly two decades in an autologous blood programme: The rise and fall of activity.

Autologous blood donation (ABD) has been widely recommended. Data from one of the oldest hospital-based programmes in Canada describe both activities and drawbacks. Data were compared over the nearly two decades of activity that peaked in 1996. A 5-year review of recent activity showed that of the 2410 patients referred for consideration, 1823 (75.64%) were accepted into the programme. Surgical services requested 5825 units of autologous blood. Of these, 3147 units were donated by 1536 patients, 803 units were transfused in the operating room and 558 units were given postoperatively. In total, only 1361 units (43.25%) were transfused. The mean age of the patients was 58 years (median 61 years and mode 69 years). The haemoglobin concentrations before donation were significantly higher, averaging 145.2 g L(-1) before donation and 114.9 g L(-1) immediately before surgery, whereas at the time of discharge, the haemoglobin concentration averaged 126.2 g L(-1) (P = 0.0001) in transfused patients. Data from this well-established ABD programme indicate less than 50% overall utilization. The activity in the programme increased until 1996 following which it dropped progressively. The low haemoglobin concentration after surgery is of concern and should foster a transfusion algorithm for these patients.

Blood Donors↗
PubMed2005

Differential modulation of gene expression in the NMDA postsynaptic density of schizophrenic and control smokers.

Nicotine is known to induce the release of multiple neurotransmitters, including glutamate and dopamine, through activation of nicotinic receptors. Gene expression in the N-methyl-d-aspartate postsynaptic density (NMDA-PSD), as well as other functional groups, was compared in postmortem hippocampus of schizophrenic and nonmentally ill smokers and nonsmokers utilizing a microarray and quantitative RT-PCR approach. The expression of 277 genes was significantly changed between all smokers and nonsmokers. Specific gene groups, most notably genes expressed in the NMDA-PSD, were prevalent among these transcripts. Analysis of the interaction between smoking and schizophrenia identified several genes in the NMDA-PSD that were differentially affected by smoking in patients. The present findings suggest that smoking may differentially modulate glutamatergic function in schizophrenic patients and control subjects. The biological mechanisms underlying chronic tobacco use are likely to differ substantially between these two groups.

Aged↗
PubMed2005

Direct measurements of Ab and Ac using vertex and kaon charge tags at the SLAC detector.

Exploiting the manipulation of the SLAC Linear Collider electron-beam polarization, we present precise direct measurements of the parity-violation parameters A(c) and A(b) in the Z-boson-c-quark and Z-boson-b-quark coupling. Quark-antiquark discrimination is accomplished via a unique algorithm that takes advantage of the precise SLAC Large Detector charge coupled device vertex detector, employing the net charge of displaced vertices as well as the charge of kaons that emanate from those vertices. From the 1996-1998 sample of 400 000 Z decays, produced with an average beam polarization of 73.4%, we find A(c)=0.673+/-0.029(stat)+/-0.023(syst) and A(b)=0.919+/-0.018(stat)+/-0.017(syst).

Journal Article↗
PubMed2005

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed2005

Cytogenetic study of 75 erythroleukemias.

Chromosomal abnormalities of erythroleukemia (EL) are often described as complex and unspecific. A retrospective study of 75 EL defined following the WHO classification was performed by the Groupe Francophone de Cytogénétique Hématologique (GFCH) in order to reexamine the cytogenetics of this infrequent leukemia subtype. Clonal chromosomal abnormalities were found in 57 patients (76%), distributed in 4 subgroups according to their ploidy status: pseudodiploid (16%), hypodiploid (47%), hyperdiploid (19%), and 18% mixed cases associating 2 different clones (hypodiploid+hyperdiploid) or (pseudodiploid+hyperdiploid). Complex rearrangements and hypodiploid chromosome number were widely dominant (50%). Partial or entire monosomies represented 56% of abnormalities. Chromosomes 5 and 7 were the most frequently involved (41 and 33 times, respectively), followed by chromosomes 8, 16, and 21 (19 times each). Unbalanced abnormalities were more frequent than balanced. All these kinds of abnormalities were observed in de novo as well as in secondary EL. Four out of 7 cases of "pure erythroid" leukemia were associated with a BCR-ABL fusion. Lastly, no chromosome abnormality specific to EL could be established. However, the large overlap of chromosomal abnormality patterns of EL (pure erythroid form excepted) and refractory anemia with excess of blasts in transformation (RAEB-t) favors the hypothesis of similarities between these 2 hematologic disorders.

Adolescent↗
PubMed2005

Neurohormonal risk stratification for sudden death and death owing to progressive heart failure in chronic heart failure.

BACKGROUND: This study tested various neurohormones for prediction of heart failure death (death owing to progressive deterioration of ventricular function; HFD). Moreover, B-type natriuretic peptide (BNP) as a predictor of sudden death (SD; as reported previously) and the best predictor of HFD were combined for a simple risk stratification model. DESIGN: BNP, the N-terminal fragment of BNP (N-BNP), and of the atrial natriuretic peptide (N-ANP) and big endothelin levels were obtained from 452 patients with a left ventricular ejection fraction </= 35%. Outcome was documented during an observation period up to 3 years. RESULTS: Two hundred and ninety-eight patients survived without heart transplantation, 65 patients underwent heart transplantation and 89 patients died (SD 44 patients, HFD 31 patients, other causes 14 patients). The only independent predictor of SD was BNP (as reported), and the best independent predictor of HFD was N-ANP (P = 0.0001). Analyzing 293 survivors and 44 patients with SD, fewer patients with BNP < 130 pg mL(-1) (Group A, n = 110) died [1%] as compared with patients with BNP > 130 pg mL(-1) and N-ANP < 6300 fmol mL(-1) (Group B, n = 177; 18%; P = 0.0001) and patients with BNP > 130 pg mL(-1) and N-ANP > 6300 fmol mL(-1) (Group C, n = 50; 19%; P = 0.0001). Analyzing 293 survivors and 31 patients with HFD, fewer patients died in Group A (n = 109; 0%; P = 0.0001) and Group B (n = 153; 6%; P = 0.0001) as compared with patients of Group C (n = 62; 34%). CONCLUSION: Prognostic power of neurohormones depends on the mode of death. The combined determination of BNP and N-ANP identifies patients with minimal risk of death, elevated SD but low HFD risk as well as elevated SD and HFD risk.

Aged↗
PubMed2005

[Atypital localisation of pyoderma gangraenosum in patient with ulcerative colitis].

The authors present a case of 61-year-old man with ulcerative colitis and with extraintestinal manifestation of the disease in the form of pyoderma gangraenosum. Multiple skin defects, which developed in atypical localisation (extensive affection of facial and hairy parts of the head) in patient with chronically active form of ulcerative colitis were complicated with bacterial contamination of methicilin-resistant strains of Staphylococcus aureus. After application of the parenteral feeding, corticotherapy and targeted antibiotic therapy the subjective and objective status of the patient markedly improved, stool frequency was reduced, admixture of blood in the stool disappeared, temperatures fell back and there was a decrease in activity of non-specific bowel inflammation in laboratory findings. However endoscopic examination of the intestine confirmed the finding of chronically active ulcerative colitis with ulcerations and bridging polyps. Patient was indicated to total colectomy, but he refused it.

Colitis, Ulcerative↗