PubMed Health⌕ Search

Biomedical subjects

R Witkowski

Publications and source records attributed to R Witkowski.

At least 19 recordsLinked to original sources
PubMed2003

[Clinical and molecular genetic observations on families with cherubism over three generations].

BACKGROUND: Cherubism is a rare fibro-osseous disorder that almost exclusively affects the maxilla and mandible. CASE REPORT: We report on three affected males in three generations in family A, and ten affected patients in family B. The youngest affected relative in family A also had craniosynostosis. His father and grandfather had cherubism and clubbed fingers. RESULTS AND DISCUSSION: Cherubism was mapped to region 4p16.3. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. The inheritance pattern is autosomal dominant with variable expression. The penetrance is 100% in males and 50-70% in females. We found incomplete penetrance in males, which does not conform with all publications.

Adolescent↗
PubMed2000

[Variable expression of lower lip fistulas in Van der Woude syndrome].

Eight families with the combination of cleft lip and/or cleft palate plus lower lip pits including their microforms were examined with the aim of characterization of microsymptoms. Hypodontia as a further symptom was also taken into consideration. Each of the symptoms was also noted separately in relatives of the patients and are to be considered as a genetic equivalent of the complete form of the autosomal-dominant inherited Van der Woude's syndrome. Knowledge of the variable expression of the basic gene is crucial for risk assessment in family counselling and also for distinguishing from clefts of other genesis with lower recurrence risk.

Adult↗
PubMed2000

Studies on the growth of Escherichia coli O157:H7 strains at 45.5 degrees C.

The objectives of the present report were to examine the ability of 18 strains of Escherichia coli O157:H7 to grow in EC broth at 42.4, 43.5, 44.5, and 45.5 degrees C, and to document the incidence of phenotypic variants present in low numbers that are capable of growth at 45.5 degrees C in EC broth. Among the 18 strains of E. coli O157:H7 studied, only 3 were capable of producing turbid growth with gas formation in EC broth at 45.5 degrees C with 1 x 10(2) initial CFU/ml. Higher initial densities of CFU resulted in turbid growth and gas formation in EC broth at 45.5 degrees C with all strains. The presence of bile salts #3 in EC broth was found to be inhibitory at 45.5 degrees C. All 18 strains were found to be capable of growth at 45.5 degrees C in nonselective media. The ability of at least one sensitive strain to grow in EC broth at 45.5 degrees C was found to be dependent on the initial number of CFU/ml. Prior growth of cells of a sensitive strain in EC broth at 45.5 degrees C from a cell density of 2.0 x 10(7) to 8.0 x 10(7) CFU/ml followed by removal of cells and reinoculation at a cell density of 2.0 x 10(6) CFU/ml resulted in growth at 45.5 degrees C that did not occur without such conditioning of the inhibitory medium. These results indicate that the ability of most strains of E. coli O157:H7 to grow in EC broth at 45.5 degrees C is dependent on the initial density of CFU and that at low densities of CFU the ability to initiate growth is dependent on either low numbers of phenotypic variants tolerant to the presence of bile salts #3 in EC broth at 45.5 degrees C or to conditioning of the medium with prior elevated numbers of cells.

Bile Acids and Salts↗
PubMed2000

[Pregnancy outcome in women after ovulation induction].

UNLABELLED: The study was performed in 116 pregnant women after ovulation induction in 1995-1999. The pregnancy outcome was analysed. In 92 of 116 women (79.3%) successful outcome ("home taken baby") was observed. In 56 of them (60.9%) spontaneous delivery took place, in 4 (4.3%) women birth with vacuum extractor was performed, and in 32 (34.8%) caesarean section was done. In 24 of 116 women (20.7%) the pregnancy outcome was unsuccessful. In 12 of them (10.3%) missed abortion, and in 7 women (6%) spontaneous abortion was observed. 2 patients (1.7%) had caesarean section (in 24th and in 29th week of gestation) because of preeclampsia. One birth (0.9%) was premature because of the cervical incompetency. CONCLUSIONS: The pregnancy outcome in women after ovulation induction is frequently (20.7%) unsuccessful. The delivery in patients after ovulation induction frequently (34.8%) takes place with caesarean section.

Adult↗
PubMed1999

Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.

We present a novel large German kindred of fatal familial insomnia (FFI) consisting of three branches and comprising more than 800 individuals of 12 generations, the largest pedigree of any familial prion disease known today. There is a wide spectrum of clinical presentations leading to misdiagnoses of Olivo-Ponto-Cerebellar Atrophy (OPCA), Parkinson's or Alzheimer's disease in addition to Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Molecular genetic analysis of the prion protein gene (PRNP) confirmed the mutation D178N segregating with methionine at the polymorphic codon 129 of PRNP in all 7 patients examined. This polymorphism at codon 129 is supposed to discriminate between familial CJD (fCJD) and FFI; the 129M allele determines FFI and 129V fCJD. Furthermore, heterozygosity at this site appears to induce prolonged disease duration as compared to the homozygous condition. The variability of the clinical and pathological findings documented for our patients indicates the difficulty in establishing the diagnosis of FFI on clinical and on pathological grounds alone. In three cases (IX-97, XI-21, V-2) followed up by us prospectively insomnia was an early and severe symptom; however, in case notes analyzed retrospectively this symptom was frequently missed. In contrast to previous reports and in agreement with recent studies we cannot confirm a clear relationship between the status of the M/V polymorphism at codon 129 and the age-of-onset of this disease.

Age of Onset↗
PubMed1998

Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.

We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations.

Adolescent↗
PubMed1998

[Nager syndrome].

In this publication, Nager syndrome was analyzed in the literature and six patients from our clinic were evaluated in relation to symptoms, etiology and pathogenesis. The diseases to be considered when making a differential diagnosis are pointed out. Clarification of the etiology is still pending. Molecular genetic research in these patients is possibly the key for new findings. A case report illustrates the results of interdisciplinary treatment by the surgeon and orthodontist. Possibilities and problems in relation to therapy are demonstrated.

Abnormalities, Multiple↗
PubMed1997

Numerical aberrations of chromosomes 1, 2, and 7 in astrocytomas studied by interphase cytogenetics.

For both juvenile astrocytomas and astrocytomas of adults, numerical and structural aberrations of chromosomes 1 and 7 have been described. To study the frequency of those aberrations in more detail and to exclude in vitro artifacts, we investigated directly prepared material from 18 juvenile and 26 astrocytomas of adults by fluorescence in situ hybridization with DNA probes specific for chromosome regions 1p36, 1q12, 2cen, and 7cen. Chromosome 2 was used as control in the hybridization with chromosome 7. To exclude tissue-specific alterations, we tested cerebral and cerebellar paraffin-embedded material from persons who had died from other diseases. In 13 of the juvenile astrocytomas, we found a loss of 1p36 in relation to 1q12 in 16 astrocytomas of adults, a gain of signals from 1p36 or both probes for chromosome 1 was seen. Gain of chromosome 7 was found in 25 cases. Unexpectedly, gain of chromosome 2 occurred in 32 cases. For both probes, there was no difference between astrocytomas of children and those of adults. Our data suggest that loss of 1p is an early event in the development of juvenile astrocytomas and that trisomy 7 is frequent in malignant tumors and tumors containing a potential of growing malignantly.

Adolescent↗
PubMed1996

Recurrent gain of chromosome arm 7q in low-grade astrocytic tumors studied by comparative genomic hybridization.

Consistent tumor-specific chromosomal aberrations have not been described in low-grade astrocytic tumors. The most frequent genetic alterations are mutations of the TP53 tumor suppressor gene and/or loss of heterozygosity (LOH) on 17p that occur in about 30% of the cases in adult patients but that are uncommon in childhood tumors. We used comparative genomic hybridization (CGH) to map DNA copy number alterations in 18 primary low-grade astrocytic tumors (ten adult patients and eight children). A gain of chromosome arm 7q was the most frequent event detected in five of ten astrocytomas (50%) from adult patients, followed by DNA amplification on chromosome arm 8q and gain on 12p (two cases). Loss of chromosomal regions on 1p, 4q, and the X chromosome was observed in two of ten cases [including one patient afflicted with Turner syndrome (45,X)]. In contrast, no consistent changes were observed in low-grade astrocytomas in children. A loss of the X chromosome was the sole aberration detected in two of eight cases using DNA extracted from the normal brain tissue. The findings suggest that a gain of 7q is an early event in the initiation of astrocytomas in adult patients. The discrepant findings in low-grade astrocytic tumors in adults compared to tumors in children support the the hypothesis that there might be different mechanisms responsible for tumor development.

Adolescent↗
PubMed1995

Involvement of chromosome 22 in ependymomas.

We have karyotyped a total of twelve ependymomas using GTG-banding including seven for which preliminary results have already been published. One case showing hyperdiploid main line with two marker chromosomes was further analyzed by nonisotopic chromosome in situ suppression hybridization. It was shown that the marker chromosomes consisted of 1q, 14q and 1q, and 22q. The possible role of chromosome 22 in ependymomas and the usefulness of fluorescence in situ hybridization for cytogenetic analysis in tumor investigation are discussed.

Adolescent↗
PubMed1993

Age-related nonrandom chromosomal abnormalities in human low-grade astrocytomas.

We report a cytogenetic investigation of 55 low-grade astrocytomas in 52 patients, 15 children and 37 adults. In addition to numerical aberrations such as trisomy 7 and gonosomal losses, we found structural and/or numerical aberrations of chromosome 1 in eight astrocytomas. There was a striking difference between the rearranged chromosomes in pediatric and adult patients. Whereas the pediatric tumors revealed monosomies 1p with accompanying trisomy 1q, the astrocytomas in adults showed partial or complete monosomies 1q.

Adolescent↗
PubMed1992

Karyotypes in 90 human gliomas.

Cytogenetic studies were performed on 90 human gliomas including 26 astrocytomas, 12 oligodendrogliomas, three oligo-astrocytomas, seven ependymomas, eight pilocytic astrocytomas, and 33 malignant gliomas (anaplastic astrocytomas and glioblastomas). The most common abnormalities were trisomy 7 in 23 cases, monosomy 22 in 15 cases, losses of the Y chromosome in 19 of 50 male cases, and losses of the X chromosome in 10 of 39 female cases. There are evident differences between the particular subgroups of gliomas. Monosomy 10 and double minutes are typical for malignant gliomas. The 58 determined chromosomal breakpoints were located on 45 different sites. Chromosomes 1, 9, 6, 3, 10, and 17 were predominantly involved.

Adult↗
PubMed1991

Coamplification of simple repetitive DNA fingerprint fragments and the EGFR gene in human gliomas.

DNA fingerprints were generated by the oligonucleotide probe (GTG)5 from surgically removed tissue and/or primary cell culture of 36 intracranial tumors (31 gliomas, 1 medulloblastoma, 4 metastatic carcinomas) and compared with the constitutional banding pattern obtained from the peripheral blood leukocytes of each patient. A multitude of somatic changes was detected and found to reflect the chromosome alterations identified by parallel karyotype analysis. Gain and/or loss of bands or significant band intensity shifts could be demonstrated in the fingerprints of more than 80% of the tumors investigated. This included a highly amplified fingerprint fragment in five independent gliomas (four of them had double minutes, dmin) which appeared not individual- but tumor-specific (2.4 kilobases, kb, after HaeIII digestion). Rehybridization with the oligonucleotide probes (GT)8 and (GATA)4, respectively, revealed additional amplified fingerprint fragments in the tumor DNA of these patients. While a (ca/gt)n fragment (2.6 kb. HaeIII) was also found to be amplified in all five cases, one band detected with (GATA)4 (1.4 kb, HaeIII) represented a unique feature for one of these tumors only. Amplification of the epidermal growth factor receptor (EGFR) gene via Southern blot hybridization was revealed only in those tumors showing the amplified DNA fingerprint fragments as well. Thus in many gliomas the amplification unit harbors two simple repetitive DNA fingerprint loci, (cac/gtg)n and (ca/gt)n, in addition to the EGFR gene.

Adolescent↗
PubMed1991

Characteristics and identity of obligately aerobic spoilage yeasts from fish silage.

Yarrowia (Candida) lipolytica was the predominant organism isolated from the surface film of growth derived from ground hake gurry to which only phosphoric acid was added to give a pH of 4.0. The optimum pH for the crude extracellular protease activity of two distinguishable strains of Y. lipolytica, designated CL1 and CL2, with casein as substrate was 7.0. The optimum temperature of the crude extracellular protease activity from both strains was 50 degrees C. The addition of 2.0% glucose to broth cultures resulted in a significant increase in final cell mass and extracellular protease activity but resulted in a reduction in the units of protease activity per mg of dry cell mass at initial pH values of 5.6 and 7.0 but not an initial pH of 8.0.

Aerobiosis↗