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Biomedical subjects

W Christian

Publications and source records attributed to W Christian.

At least 19 recordsLinked to original sources
PubMed2000

A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters.

Large intergenerational repeat expansions of the CAG trinucleotide repeat in the HD gene have been well documented for the male germline. We describe a recurrent large expansion of a maternal allele with 36 CAG repeats (to 66 and 57 repeats, respectively, in two daughters) associated with onset of Huntington disease (HD) in the second and third decade in a family without history of HD. Our findings give evidence of a gonadal mosaicism in the unaffected mother. We hypothesize that large expansions also occur in the female germline and that a negative selection of oocytes with long repeats might explain the different instability behavior of the male and the female germlines.

Adult↗
PubMed1999

Predictive value of decreased p27Kip1 protein expression for the recurrence-free and long-term survival of prostate cancer patients.

The p27Kip1 gene has been identified as inductor of cell cycle arrest at the G1 checkpoint to prevent entry of somatic cells into the S phase of the cell cycle when substantial DNA damage has occurred. It has been suggested that decreased expression of the p27Kip1 protein may contribute to the development of human malignancies due to loss of critical antiproliferative mechanisms. In the present study, 95 specimens (T1-T4) from 95 randomly selected patients undergoing radical prostatectomy at the Urological Department of Hannover University (82 patients) as well as in the Josef Hospital Regensburg (13 patients) between 1981 and 1992 for whom tissue blocks for immunohistochemical investigation were available, were investigated for different biological and clinical characteristics as possible predictors for recurrence-free and long-term survival: age, depth of tumour infiltration, histological grade, lymph node status, as well as decreased expression of the p27Kip1 protein. After a median follow-up up of 56 months (24-151 months), seven of 21 (33%) patients (Group 1) with loss of p27Kip1 protein expression or a relative amount of <10% of positively stained tumour cells developed recurrent disease in contrast to 17 of 74 (23%) patients (Group 2) with retained p27Kip1 protein expression (> or =10% of positively stained tumour cells). The median recurrence-free survival was 14 months (5-40 months) for patients from Group 1 and 31 months (7-133 months) for Group 2 patients (P = 0.02). In multivariate analysis, loss of p27Kip1 protein expression was identified as the only independent prognostic parameter for recurrence-free survival. In contrast, neither the univariate nor the multivariate analysis showed a correlation between loss of p27Kip1 protein expression and the long-term survival of the patients. Prospective studies are urgently needed to confirm the independent prognostic value of decreased p27Kip1 protein expression together with overexpression of the p53 tumour suppressor protein in patients with localized prostate cancer. The availability of more refined prognostically important biological variables in addition to established prognostic factors like tumour stage or Gleason score might help decision making in patients at high risk for the development of local recurrence or systemic tumour progression.

Adenocarcinoma↗
PubMed1985

[Cerebellar atrophy in epileptic patients: computer tomography study].

We examined the CT-scans of 310 patients with epilepsy and found a cerebellar atrophy (CA) in 56 cases. 8 of them concerned the cerebellar hemispheres and 48 the vermis. The CA was predominantly observed in patients treated with phenytoin, who had experienced one or more phenytoin intoxications. The combination of phenytoin and carbamazepine resulted in a high risk of acquiring a CA. The CA did not depend on the age of the patients or on the presence of major generalised tonic-clonic seizures.

Adult↗
PubMed1984

[The electroencephalogram in advanced age].

Aging, by definition, constitutes a biological process rather than a disease. The resulting functional deficiency in transmitter-metabolism is the basis of deviations in the electroencephalographic patterns. In general, the EEG exhibits greater variability in the old age than in the middle decades. The most important characteristic of the EEG in the aged is a slowing of the alpha-frequency often in association with discontinuity, voltage reduction, and successive disruption of alpha rhythm with passages of curve-flattening and slowing of the dominating rhythms. Such patterns of subvigilant activity can dominate the EEG in the aged under resting conditions. Another common feature of the EEG in older age is an increasing occurrence of theta-waves, especially in the temporal regions. Temporarily, beta-waves increase in frequency in old age--predominantly in the female--usually subsiding by the age of 75. The interpretation of an EEG focus can be difficult in the absence of clinical correlates. In the very old age, the resulting changes in sleep-pattern can be demonstrated in the EEG. EEG and psychic efficiency are related only occasionally; under pathologic conditions, however, the relationship between EEG-anomalies and the intensity of a psychoorganic syndrome demonstrates a closer correlation. Finally, the possibility of gaining new information about psychical activities during aging through the use of evoked potentials is discussed.

Adult↗
PubMed1977

[Biosynthesis of insulin. The Ferdinand-Bertram-Award lecture (author's transl)].

EEG recordings were done 1-3 months before and up to 5 years after shunt operations in 20 men and 7 women (aged 16 to 69 years) with liver cirrhosis, most of them of alcoholic aetiology, and with oesophageal bleeding. The EEG diagnosed encephalopathies before there were any clinical suspicions. Pre-operatively half of the patients (14) had EEG changes indicating encephalopathy. In only four patients who before operation had a normal EEG were there post-operative EEG changes indicating encephalopathy. In the other nine patients the EEG was normal before and after shunt operation. The abnormal EEGs which occurred post-operatively or got worse generally returned to pre-operative levels within 3-4 weeks. These studies indicate that in patients with pre-operative encephalopathy there is no improvement in the EEG after shunt operation. On the other hand, if pre-operatively there are no significant cerebral abnormalities, post-operative changes of encephalopathy are rare (14.8%).

Amino Acid Sequence↗
PubMed1976

[Disabled children in the federal republic of Germany in 1974 (author's transl)].

Within the scope of an additional micro-census inquiry--carried out in 1974--the Federal Statistical Office in Wiesbaden assessed the number of physically, mentally and psychologically impaired children. The results are differentiated according to the types of disability and therapy, age, in-patient treatment and special school attendance. Furthermore, the estimated results are compared with earlier surveys of the Federal Statistical Office and other estimates.

Adolescent↗