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H Kaufmann

Publications and source records attributed to H Kaufmann.

At least 55 records · Page 3Linked to original sources
PubMed2000

Deletion of 13q14 remains an independent adverse prognostic variable in multiple myeloma despite its frequent detection by interphase fluorescence in situ hybridization.

Interphase fluorescence in situ hybridization (FISH) studies of chromosomal region 13q14 were performed to investigate the incidence and clinical importance of deletions in multiple myeloma (MM). Monoallelic deletions of the retinoblastoma-1 (rb-1) gene and the D13S319 locus were observed in 48 of 104 patients (46.2%) and in 28 of 72 (38.9%) patients, respectively, with newly diagnosed MM. FISH studies found that 13q14 was deleted in all 17 patients with karyotypic evidence of monosomy 13 or deletion of 13q but also in 9 of 19 patients with apparently normal karyotypes. Patients with a 13q14 deletion were more likely to have stage III disease (P =.022), higher serum levels of beta(2)-microglobulin (P =.059), and a higher percentage of bone marrow plasma cells (P =.085) than patients with a normal 13q14 status on FISH analysis. In patients with a deletion of 13q14, myeloma cell proliferation (Ki-67) was markedly increased (22.0% +/- 6.9% compared with 15.6% +/- 8.2% in patients without the deletion; P =.0008). Evaluation of bromodeoxyuridine incorporation in 5 patients revealed that both rb-1-deleted and rb-1-normal MM subpopulations were proliferative. The presence of a 13q14 deletion on FISH analysis was associated with a significantly lower rate of response to conventional-dose chemotherapy (40.8% compared with 78. 6%; P =.009) and a shorter overall survival (24.2 months compared with > 60 months; P <.005) than in patients without the deletion. Multivariate analysis of prognostic factors confirmed the independent predictive value of 13q14 deletions for shortened survival. In conclusion, deletions of 13q14 are frequently detected by interphase FISH in patients with newly diagnosed MM, correlate with increased proliferative activity, and represent an independent adverse prognostic feature in MM. (Blood. 2000;95:1925-1930)

Adult↗
PubMed2000

[Healing process and complications after eye muscle surgery].

BACKGROUND: Varying reports on the incidence of operative and postoperative complications following eye muscle surgery have been published. The purpose of this study was to quantify complications after various types of eye muscle surgery as well as minor pathological changes of the anterior and posterior segment. PATIENTS AND METHODS: This prospective study included all patients who underwent eye muscle surgery at the Department of Strabismology and Neuroophthalmology, Giessen, from January to May 1998. Five hundred eyes of 377 patients aged 2-82 years were included. The spectrum of procedures comprised: recessions, resections, tucks, R&R procedures, transpositions, bimedial retroequatorial myopexies, and revisions of rectus and oblique muscles. All patients were examined 1 day preoperatively and 1 day, 1 week, and 3 months postoperatively. Any complications and even minor pathological changes of the anterior and posterior segment were documented. Some changes were assessed by means of a score (0-3). RESULTS: One day postoperatively, 30% of eyes had inflammatory pseudoptosis, most of them mild. Conjunctival swelling and injection were frequently mild and moderate, after 1 week mostly mild. Conjunctival irritation was more pronounced following resection than tucking. Punctate epithelial keratopathy was noted in 1.6% of cases (first postoperative day), dellen in 4.3% (first postoperative week). Three months postoperatively, 14.3% of eyes had biomicroscopically visible conjunctival folds and 91.3% had minimal conjunctival scars. None of the patients had a scleral perforation or other serious complication. CONCLUSIONS: Eye muscle surgery rarely entails complications. Revisions due to organic pathological changes are extremely rare. Possible development of dellen requires check-up 4-7 days postoperatively. Tucking of rectus muscles causes less conjunctival irritation than resection.

Adolescent↗
PubMed2000

[Binocular three-dimensional video-oculography].

BACKGROUND: It has long been a goal to develop a means to measure squint angles in three dimensions simultaneously. A three-dimensional binocular method is naturally needed especially with surgical procedures that affect three dimensions of ocular motility. METHODS: Special modifications of a videographic method provide simultaneous online data on the three-dimensional position of the eyes. The interocular difference is equal to the amount of squint, depending on the direction of gaze, head-tilt/direction of gravity, and convergence. RESULTS: The method introduced provides three-dimensional and binocular documentation of ocular movements. This could lead to improved pre- and postsurgical examination, especially of rotational disturbances, and it could also offer an objective means for comparing the results of various surgical procedures.

Electrooculography↗
PubMed2000

Lea symbols: visual acuity assessment and detection of amblyopia.

OBJECTIVE: Lea symbols can be used for measuring visual acuity in childhood. Therefore, these symbols might be useful for early detection of amblyopia. We evaluated whether the visual acuity determined with Lea symbols (LS) corresponds to the visual acuity determined with the Landolt-C (LC). PATIENTS AND METHODS: In 55 strabismic amblyopic volunteers aged 5-59 years, the monocular visual acuity of both eyes was determined using LC and LS. For comparison, the right eye of 20 healthy volunteers was examined. Single optotypes (LC, LS) were used in 55 amblyopes and crowded optotypes (LC(17.2), LC(2.6), CLS) in 40 amblyopes. The luminance of the test charts was 180-200 cd/m(2), with a contrast >85%. The refraction of the subjects was corrected beforehand. RESULTS: In the 40 amblyopic eyes tested under each condition, LS exceeded CLS and LC by about 1 line (dB), LC(17.2) by 2 lines and LC(2.6) by 3 lines (mean values +/- SD: LS 0.62+/-1.8 dB, CLS 0.46+/-1.7 dB, LC 0.5+/-2. 0 dB, LC(17.2) 0.41+/-2.3 dB, LC(2.6) 0.29+/-2.3 dB). The non-amblyopic fellow eyes and healthy eyes showed smaller differences (fellow eyes LS 1.32+/-1.1 dB, CLS 1.17+/-1.1 dB, LC 1. 15+/-0.9 dB, LC(17.2) 1.05+/-0.9 dB, LC(2.6) 0.93+/-1.1 dB; healthy eyes LS 1.74+/-0.9 dB, CLS 1.58+/-0.8 dB, LC 1.48+/-0.6 dB, LC(17.2) 1.41+/-0.7 dB, LC(2.6) 1.32+/-1.1 dB). In the amblyopic eyes, the reduction of LC was more distinct than the reduction of LS. Fifty-two amblyopes had an amblyopia >1 dB of LC, LC(17.2) and LC(2. 6), while 50 had an interocular acuity difference >1 dB CLS. CONCLUSIONS: Using Lea symbols, a recognition acuity can be determined and amblyopia can reliably be detected. Due to their design, the Lea symbols are particularly suitable and recommendable for application in young children. However a slight systematic difference between LS and LC has to be considered.

Adolescent↗
PubMed2000

Postoperative nausea and vomiting after Faden operation.

OBJECTIVE: The purpose of this study was to evaluate the antiemetic effect of prophylactic dimenhydrinate application prior to Faden operation and to compare the incidence of PONV between bimedial Faden operation (BMF) and horizontal recess-resect procedure (R&R). METHODS: Ninety-nine children (4-10 years) scheduled for BMF were included in this prospective double-blind study. Midazolam (0.5 mg/kg body weight, BW) was administered orally for premedication 30 min before induction of anesthesia. Additionally, children weighing >/=23 kg received either dimenhydrinate suppositories or placebo. The placebo group was compared with 148 children who underwent R&R surgery without antiemetic prophylaxis during the same period. Anesthesia was induced with thiopentone (5-10 mg/kg BW) and vecuronium (0.1 mg/kg BW) bromide and maintained with halothane (1-2 vol%) in N(2)O/O(2) (65/35 vol%). Age, height, weight, and incidence of oculocardiac reflex were documented. PONV was classified into "no vomiting", "vomiting without therapy", and "vomiting requiring rescue medication". In the latter case dimenhydrinate was given again. The chi-square test was used for statistical analysis. RESULTS: Forty-eight patients received placebo, while 51 received dimenhydrinate. No differences between any groups were observed concerning age, height, weight, and incidence of oculocardiac reflex. Compared to R&R surgery, PONV requiring rescue medication occurred significantly more frequently after BMF (45% vs 23% after R&R). PONV after BMF was significantly less severe in the dimenhydrinate group than in the placebo group. The total incidence of PONV after BMF, however, was not significantly reduced. CONCLUSION: The high incidence of PONV after BMF can be explained by the greater invasiveness of BMF than R&R surgery. PONV requiring antiemetic rescue medication can be reduced by preoperative administration of dimenhydrinate suppositories.

Anesthesia, Local↗
PubMed2000

Aneuploidy of chromosome 7 can be detected in invasive lung cancer and associated premalignant lesions of the lung by fluorescence in situ hybridisation.

In the present study the chromosomal status of seven invasive non small cell lung cancer specimens and associated premalignant lesions was investigated. By fluorescence in situ hybridisation (FISH) with centromere specific probes, an increase in the percentage of aneuploid cells from pre-invasive to invasive lesions could be demonstrated (mean 8.5 and 59%, respectively, for chromosome 7). Furthermore, mean chromosome copy numbers were higher in invasive carcinomas as compared to premalignant lesions, indicating polyploidization during tumor development. Increasing evidence suggests that aberrations of chromosome 7 occur early in the development of lung cancer. Whether these aberrations can be used as a biomarker for future neoplastic progression remains to be determined.

Aneuploidy↗
PubMed2000

Deletions of chromosome 13q in monoclonal gammopathy of undetermined significance.

Since deletion of chromosome 13q is a clinically relevant feature in multiple myeloma (MM), we analyzed bone marrow plasma cells from 29 patients with monoclonal gammopathy of undetermined significance (MGUS) to investigate the chromosome 13 status in MGUS. Studies were performed by interphase fluorescence in situ hybridization (FISH) with a panel of 13q14-specific probes (RB1, D13S319, D13S25, D13S31). Plasma cells with a deletion of at least one of the 13q14 loci were detected in 13 patients (44.8%) with MGUS. In five patients (17.2%), deletions of all four 13q14-specific probes were observed, and the additional deletion of a 13q telomeric region (D13S327) suggested loss of the entire 13q arm or monosomy 13. Loss of 13q14 was observed to be monoallelic and to occur in 11.0 to 35.0% of plasma cells (cut-off levels for a deletion <10% with all probes). Nine of 17 patients (52.9%) with MM progressing from a pre-existing MGUS had evidence for a deletion of 13q14 as determined by FISH with the RB1 probe. These results suggest that deletion of 13q14 is an early event in the development of monoclonal gammopathies, but its role for the eventual progression to MM remains to be determined prospectively.

Adult↗
PubMed2000

Multiple myeloma with deletion of chromosome 13q is characterized by increased bone marrow neovascularization.

Anti-angiogenesis therapy with thalidomide has been reported to have marked activity in multiple myeloma (MM). As cytogenetics is an independent prognostic factor in MM, we analysed bone marrow (BM) angiogenesis and cytogenetic abnormalities in 34 patients with active MM. BM microvessel density (MVD), as determined by staining with anti-CD34, was significantly higher in MM (MVD: 221 +/- 94 per mm2) than in controls (80 +/- 36; P < 0.0001). In patients with the presence of at least one unfavourable cytogenetic abnormality (deletion of 13q14, deletion of 17p13, aberrations of 11q), a significantly increased BM MVD was observed (254 +/- 93 vs. 160 +/- 60 in patients with absence of these abnormalities; P = 0.0035). Further analyses indicated that increased BM MVD was significantly correlated with deletion of 13q14 (259 +/- 96 vs. 188 +/- 80; P = 0. 026), but not with other cytogenetic, clinical and laboratory MM parameters. We conclude that BM neovascularization is particularly high in MM with deletion of 13q14, which provides a rationale for use of anti-angiogenic strategies in the treatment of MM with high-risk cytogenetics.

Adult↗
PubMed2000

Malignant cell detection by fluorescence in situ hybridization (FISH) in effusions from patients with carcinoma.

Cytological diagnosis of malignant cells in effusions is hampered by difficulties in the differentiation from reactive mesothelial cells. Because interphase cytogenetics by fluorescence in situ hybridization (FISH) might complement cytological evaluation, we determined the power of tumor cell detection using FISH and cytology in 201 effusions from patients with advanced cancer. Furthermore, 9 primary breast tumors were FISH-karyotyped, and chromosomal aberrations were compared with those of corresponding metastatic effusion cells. By using centromeric probes representing chromosomes 7, 8, 11, 12, 17, and 18, a rate of malignancy-associated aneusomy combined for the 6 chromosomes was detected in an overall of 44.8% of effusion specimens (range, 31.8% to 39.3% for the individual chromosome), comparable to cytology (43.3%). The combination of just 2 FISH probes (namely, representing chromosome pairs 8/11 and 8/17) was almost equally efficient in the identification of aneusomy. Approximately one fourth of the cytologically negative effusions were FISH positive and vice versa. From the initially FISH-negative effusions, 18.9% could be subsequently classified positive with dual-color FISH by visualization of intranuclear chromosomal complexity in rare aneuploid cells. Thus, "overall FISH analysis," including dual-color evaluation, identified tumor cells in significantly more effusions (55.2%, P = .001) than conventional cytology, implying greater sensitivity. Finally, our finding that numerical aberration patterns in primary breast tumors and corresponding metastatic effusions are comparable indicates that FISH examination of primary tumors will indicate the centromeric probe(s) best suited for an efficient search for metastasis in the individual case.

Adenocarcinoma↗
PubMed2000

[Congenital nystagmus: indication, results and dosage of Kestenbaum surgery in 34 patients].

BACKGROUND: Abnormal, nystagmus related head postures can be treated by Kestenbaum's procedure, if the concept of artificial divergence (Cüppers procedure) is not expected to work. In this retrospective study, we evaluated the effects of Kestenbaum surgery in order to establish dosage recommendations. PATIENTS AND METHODS: Solely patients who received Kestenbaum surgery (maximum 3 mm dosage difference between both eyes, i.e., without additional artificial divergence) for a horizontal head turn (HT) due to nystagmus were included in this study. Exclusion criteria were previous eye muscle surgery, strabismus, lacking binocular vision, and cerebral disease. The millimetres of surgery and the pre- and 3-6 months-postoperative findings (HT and visual acuity at 5 m distance, stereopsis) were evaluated. RESULTS: Of the 34 patients, 21 had a HT to the left side and 20 were male. The age at surgery (median, 10%- and 90%-quantile) was 7 years (4-32), the total amount of surgery 32 mm (20-40), and the preoperative HT 30 degrees (20-40). Postoperatively (n = 31), the HT amounted to 7 degrees (0-20). The reduction of HT was 67% (25-100), the efficacy of surgery 0.8 degree (0.3-1.0) per millimetre total amount of surgery on both eyes together. Four patients needed further surgery due to residual HT. Postoperatively, the maximum visual acuity was available without HT or with significantly less HT than preoperatively. Stereopsis showed a trend of improvement. CONCLUSIONS: The Kestenbaum procedure has a dose/effect ratio similar to that of recess/resect surgery for strabismus. Due to a long term efficacy of 1.5 degrees/mm, a dosage (in millimetres) on each eye of two thirds of the HT (in degrees) can be recommended. Physiological and methodical factors (false measurements) have to be discussed as an explanation for apparently low efficacy of surgery.

Adolescent↗
PubMed2000

Remission of superior oblique myokymia after microvascular decompression.

Superior oblique myokymia (SOM) is an ocular motility disorder characterized by oscillopsia, vertical or torsional diplopia, sometimes combined with pressure sensation. Although the pathophysiological basis is unclear, isolated case reports have documented its association with intracranial pathological processes. We present a case of SOM associated with a vascular compression of the fourth nerve at the root exit zone. Following microneurosurgical decompression, SOM completely resolved and paralysis of the fourth nerve occurred. This was less disturbing.

Decompression, Surgical↗
PubMed2000

Predictive role of interphase cytogenetics for survival of patients with multiple myeloma.

PURPOSE: Recent metaphase cytogenetic studies suggested that specific chromosomal abnormalities are of prognostic significance in patients with multiple myeloma (MM). Because the true incidence of chromosomal abnormalities in MM is much higher than that detected by metaphase analysis, we used interphase fluorescence in situ hybridization (FISH) to determine the prognostic value of specific chromosomal aberrations. PATIENTS AND METHODS: Bone marrow plasma cells from 89 previously untreated patients with MM were studied consecutively by FISH to detect the deletions of 13q14, 17p13, and 11q and the presence of t(11;14)(q13;q32). FISH results were analyzed in the context of clinical parameters (response to treatment and survival after conventional-dose chemotherapy), and a multivariate analysis of prognostic factors was performed. RESULTS: By FISH, the deletion of 13q14 occurred in 40 patients (44.9%), deletion of 17p13 in 22 (24.7%), and 11q abnormalities in 14 (15.7%; seven with t(11;14)). Deletions of 13q14 and 17p13 were associated with poor response to induction treatment (46.9% v 77.3% in those without deletions, P =.006 and 40.0% v 73.2%, P =.008, respectively) and short median overall survival (OS) time (24.2 v 88.1 months, P =. 008 and 16.2 v 51.3 months, P =.008, respectively). Short median OS time was also observed for patients with 11q abnormalities (13.1 v 41.6 months, P =.02). According to the number of unfavorable cytogenetic features (deletion of 13q14, deletion of 17p13, and aberrations of 11q) that were present in each patient (0 v 1 v 2 or 3), patients with significantly different OS times could be discriminated from one another (102.4 v 29.6 v 13.9 months, P <.001, respectively). CONCLUSION: For patients with MM who were treated with conventional-dose chemotherapy, interphase FISH for 13q14, 17p13, and 11q provides prognostically relevant information in addition to that provided by standard prognostic factors. This observation may be considered for risk-adapted stratifications of MM patients in future clinical trials.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2000

The biology of multiple myeloma.

Multiple myeloma (MM) is a B-cell malignancy originating from pre-switched, follicle center B-lymphocytes which differentiate to plasma cells accumulating in the bone marrow. MM cells are characterized by a profound genetic instability resulting in a complex set of numerical and structural chromosomal abnormalities. Among these abnormalities, translocations involving 14q32, the immunoglobulin heavy-chain locus, are the most frequent aberrations, but translocation partners are remarkably heterogeneous. Chromosome 13q14 may harbor a critical tumor suppressor gene since MM patients with deletion of 13q14 experience short overall survival after conventional-dose and high-dose chemotherapy. Bone marrow stroma cells support growth and survival of MM cells, which in turn influence the bone marrow microenvironment. This is particularly evident by the markedly increased bone marrow vascularization observed in most patients with active MM.

Chromosomes, Human, Pair 13↗
PubMed2000

Preliminary report: examination of young children with Lea symbols.

BACKGROUND: Lea symbols are highly sensitive for detection of amblyopia in cooperative patients. They are favorable for visual acuity assessment in childhood. Therefore, we assessed age-related normal values and interocular differences of Lea symbol visual acuity. METHODS/PATIENTS: We reexamined 50 out of 193 children aged 21 months to 7 years who came for a routine pediatric examination between January and November 1999. Lea symbol acuity (Lea Symbols Single Symbol Book (LS) and Lea 15-Line Folding Distance Chart (CLS)) and Landolt-C acuity (single (LC) and crowded with 2.6' inter-optotype distance (LC(2.6))) were measured. A three out of four criterion was used. Strabismus and any organic eye disease were excluded by orthoptic and ophthalmologic examination, consisting of biomicroscopy, ophthalmoscopy, retinoscopy or refractometry, cover test or Hirschberg test and Lang Stereotest. RESULTS: Only 26% of the parents (50 out of 193) accepted an examination in our hospital. In 35 (32) of the 50 children, visual acuity could be measured in both eyes separately with single (crowded) Lea symbols, while 26 (25) children could be examined in both eyes monocularly with the Landolt-C with single (crowded) optotypes. Except for one 3-year-old boy, all of the children older than 30 months could be tested with single Lea symbols. Lea acuity surpassed Landolt acuity. The difference was about 1.5 lines (1.5 dB) for both the single and the crowded optotypes. In 63% (69%) of the children who could be tested monocularly, LS acuity (CLS acuity) was higher than 0.8 (0.63). 89% (83%) of the children had an interocular difference of maximum 1 line for single (crowded) Lea symbols. CONCLUSIONS: The youngest child whose visual acuity could be assessed with Lea symbols was 23 months old. Almost every child older than 30 months could be tested with Lea symbols. Lea acuity higher than 1 and an interocular difference less than 2 lines is not suspect for amblyopia. Children with a difference of more than one line should be reexamined.

Amblyopia↗
PubMed2000

Promethazine affects optokinetic but not vestibular responses in monkeys.

BACKGROUND: Promethazine is used to treat motion sickness including Space Adaptation Syndrome, but there is incomplete information about how it affects vestibular and optokinetic responses. METHODS: Vestibular and optokinetic nystagmus, recorded with eye coils, were characterized in monkeys after administration of promethazine at dosages approximately equivalent to those used by humans in space. RESULTS: The initial increase of horizontal eye velocity during optokinetic nystagmus (OKN) was reduced after receiving the drug. Consequently, it took a longer time for eye velocity to rise to 60% of steady state value, the normal initial jump in eye velocity. Steady state OKN, maximum gains of optokinetic after-nystagmus (OKAN) and OKAN falling time constants were unaffected. The gains and time constants of the horizontal, vertical and roll angular vestibulo-ocular reflex (aVOR), the amplitude and velocity of saccades, and ocular counter-rolling (OCR), induced by off-vertical axis rotation (OVAR) were unaffected by promethazine. A two-component optokinetic model simulated the data simply by reducing the gain of the initial (rapid) component of OKN. A reduction in coupling between a non-linear element and the velocity storage integrator was required to simulate some vertical OKN data. CONCLUSIONS: Promethazine reduces the gain of the direct visual-oculomotor pathway in monkeys. It has little effect on saccades, the gain and time constant of the aVOR and the low frequency linear vestibulo-ocular reflex (IVOR), which orients the eyes during ocular counterrolling. The optokinetic deficit is consistent with reported reduction in ocular pursuit and VOR suppression after promethazine in humans.

Animals↗