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Biomedical subjects

J Bürger

Publications and source records attributed to J Bürger.

At least 19 recordsLinked to original sources
PubMed2006

[Biochips--tools of 21st century medicine].

In the next years biochips will enter into clinical medicine. Each larger diagnostics laboratory will offer genetic tests with this method. In this article the potential of biochips is shown by two examples: Differentiation and prognosis in breast cancer and individualized drug therapy (pharmacogenetics). In cancer the gene expression profile permits an accuracy of differentiation and prognosis that was impossible so far. Already soon oncologists will make their therapeutic decisions on the basis of biochip-based gene expression profiles. For an individualized drug therapy extensive genetic tests must be accomplished, above all of the cytochrome P450 system. An already available biochip seems to make this possible reliably and economically. Moreover, in science biochips will play a substantial role in the analysis of the genetic basis of common diseases. If these diseases are understood once, the clinical use of biochips will open an enormous potential for a predictive medicine. Biochips are a relevant topic for insurers--partially already today, much more however in the future.

Breast Neoplasms↗
PubMed2005

Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.

We report on a girl with severe mental and psychomotor retardation caused by an unusual, unbalanced translocation t(14;15) of maternal origin. The unbalanced translocation in the patient resulted in trisomy 14pter-->q13 and monosomy 15pter-->q11.2. In addition to common features described in other patients with small proximal trisomies of chromosome 14, our patient presented with hypopigmented skin with light hair and eye color and severe speech impairment. Therefore the phenotype of the girl shows few similarities to that of Angelman syndrome patients, although the breakpoint in chromosome 15 in our patient was found to be proximal to the PWS/AS region.

Angelman Syndrome↗
PubMed2003

[Mesenteric venous thrombosis--a shift in therapeutic strategy?].

The authors present a group of nine patients suffering from mesenteric venous thrombosis, which were treated in three hospitals with participation of the first author. Basic principles of diagnostic and therapeutic procedure are summarized and a shift in the treatment strategy over the last 10 years is pointed out. The patient after a very radical intestinal resection may expect to survive and entertain an acceptable quality of life, provided the surgery is followed by an extensive team care in the post-operation period, later accompanied by the care of specialists in modern ways of nutrition.

Aged↗
PubMed2002

[An AV aneurysm of a branch of the pulmonary artery associated with a pulmonary tumorlet].

The authors present a rare case of a relatively large A-V aneurysm of the branch of the pulmonary artery in the right upper pulmonary lobe. Successful and technically easy surgical treatment was preceded by a serious dilemma whether to select in a high risk patient another (less invasive) therapeutic method or even conservative treatment. The surgical finding and smooth postoperative course confirmed that the indication of surgery was correct. As a further pathological finding in the resected portion a pulmonary tumourlet was detected. The combination of the two rare findings is an extreme rarity.

Arteriovenous Fistula↗
PubMed2001

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.

Imprinting defects in 15q11-q13 are a rare but significant cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Patients with an imprinting defect have apparently normal chromosomes 15 of biparental origin, but are recognised by @parental DNA methylation at D15S63 (PW71) or SNURF-SNRPN exon 1. We have investigated the methylation status of five additional loci in 12 such patients with or without a deletion in the imprinting centre. In each patient, the imprinting defect affected all loci tested. During routine diagnostic testing we identified four patients who had a normal methylation pattern at SNURF-SNRPN exon 1, but an abnormal pattern at D15S63. In two of these patients, who were suspected of having PWS, this change was restricted to D15S63. In two patients suspected of having AS, several but not all loci were affected. Using a newly developed methylation-specific PCR test for D15S63 we found that these methylation changes are rare in patients suspected of having AS. Although we can not prove that the methylation changes in the four patients are causally related to their disease, our findings demonstrate that spatially restricted changes in methylation can occur. In some cases, these changes may reflect incomplete imprint spreading.

Angelman Syndrome↗
PubMed2000

Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterised by progressive spasticity of the lower limbs. The SPG4 locus at 2p21-p22 accounts for 40-50% of all AD-HSP families. The SPG4 gene was recently identified. It is ubiquitously expressed in adult and foetal tissues and encodes spastin, an ATPase of the AAA family. We have now identified four novel SPG4 mutations in German AD-HSP families, including one large family for which anticipation had been proposed. Mutations include one frame-shift and one missense mutation, both affecting the Walker motif B. Two further mutations affect two donor splice sites in introns 12 and 16, respectively. RT-PCR analysis of both donor splice site mutations revealed exon skipping and reduced stability of aberrantly spliced SPG4 mRNA. All mutations are predicted to cause loss of functional protein. In conclusion, we confirm in German families that SPG4 mutations cause AD-HSP. Our data suggest that SPG4 mutations exert their dominant effect not by gain of function but by haploinsufficiency. If a threshold level of spastin were critical for axonal preservation, such threshold dosage effects might explain the variable expressivity and incomplete penetrance of SPG4-linked AD-HSP.

Adenosine Triphosphatases↗
PubMed1998

Dystrophinopathy in a boy with Chediak-Higashi syndrome.

Chediak-Higashi syndrome (CHS) is a hereditary, biphasic immunodeficiency syndrome which usually leads to early death, during the first decade. The second phase is characterized by a lymphoproliferative syndrome with histiocytic infiltrations in various tissues. Recently the gene has been identified on chromosome 1q43. In the patient presented here, a mutation within codon 3197 was found, resulting in a frame-shift. Additionally, Duchenne muscular dystrophy (DMD) was diagnosed by immunostaining of the muscle. Unusual for both CHS and DMD muscle weakness and hypotonia became evident during the first months of life. Compared to typical DMD cases we found an increased histiocytic infiltration in the muscle. The underlying muscular dystrophy probably predisposes to the affection of muscle in the second phase of CHS. This patient is presented as an example of modification of the phenotype by a second genetic disease.

Chediak-Higashi Syndrome↗