Biomedical subjects

E Walch

Publications and source records attributed to E Walch.

6 recordsLinked to original sources

PubMed2000

Yunis-Varon syndrome: evidence for a lysosomal storage disease.

We present clinical and neuropathological findings in a female infant with Yunis-Varon syndrome (YVS) comprising absence of thumbs and halluces, aphalangia of fingers and toes, hypoplasia of clavicles, severely undermineralized skeleton (especially skull), microcephaly, and multiple nonskeletal anomalies. The patient also had a Dandy-Walker malformation, hydrocephalus, and hypertension, which were not reported previously in YVS. The infant excreted an abnormal unidentified oligosaccharide. The patient died at day 108 with severe neurological impairment. Autopsy showed prominent intraneuronal inclusions with vacuolar degeneration, mainly in the thalamic, dentate nuclei, cerebellar cortex, and inferior olivary nuclei. No storage phenomena were observed in other tissues. These findings strongly suggest that a lysosomal storage disorder is involved in the pathogenesis of Yunis-Varon syndrome.

Abnormalities, Multiple↗

PubMed2000

Cloning and characterization of the human retinoid X receptor alpha gene: conservation of structure with the mouse homolog.

Retinoid X receptors (RXRs) are members of the steroid/thyroid hormone receptor superfamily which, along with retinoic acid receptors (RARs), mediate the biological effects of retinoids. These effects include the regulation of many aspects of embryonic development, reproductive and visual function, and the maintenance of epithelial homeostasis throughout life. The genes for three distinct retinoid X receptors, RXRalpha, beta, and gamma, have been localized to separate chromosomes. In order to determine the organization of the human RXRalpha gene, we have isolated a clone containing the majority of the gene from a human genomic bacterial artificial chromosome (BAC) library and generated a physical map. The gene spans over 40 kilobases in size and contains at least 10 exons. Comparison with mapped portions of the mouse RXRalpha gene indicates highly conserved intron-exon positioning. These results provide information necessary to generate constructs for targeting the RXRalpha gene in human cell lines, which may eventually lead to an understanding of the function of RXRalpha in human cancer.

Animals↗

PubMed2000

Expression of protein mediators of type I interferon signaling in human squamous cell carcinoma of the skin.

IFN-based therapy has been shown to be active in the treatment of squamous cell carcinoma (SCC) of the skin and has promise for chemoprevention and treatment of several other cancers. In an effort to better understand the molecular mechanism of this activity, we have determined the expression pattern of several of the protein mediators of type I IFN signaling by immunohistochemistry in cutaneous SCC, SCC metastases, and adjacent nonmalignant epithelium from patient biopsies. All of the proteins, signal transducer and activator of transcription (STAT) 1alpha/beta, STAT2, p48, STAT3a, and STAT3beta, are expressed at varying levels in the adjacent epidermis, as well as in other epidermal and dermal cell types. For the majority of samples tested, the expression of one or more of these proteins was reduced in SCC primary tumors compared with the adjacent nonmalignant epithelial cells, as determined by manual scoring. Quantitative densitometry of several samples revealed differences that are statistically significant. Our study provides the first direct evidence for the expression of the IFN-stimulated gene factor 3 (STAT1alpha/beta, STAT2, and p48) and STAT3alpha and STAT3beta mediators of IFN-alpha/beta signaling in human skin and skin-derived SCCs. These data have led to the hypothesis that the loss of IFN sensitivity may contribute to the development and progression of skin SCC.

Biomarkers, Tumor↗

PubMed1993

[Effects of confrontation of medical students and hospital physicians with human cadavers].

Eighty male and female doctors of various ages working in a general hospital were questioned on their feelings on being confronted with human corpses and the possible effects of the experience. Their responses were analysed and compared with those of 100 male and female medical students. The potential short-term effects and lasting consequences are many and varied. Forty-four per cent of the doctors reported that repeated dealings with the bodies of patients known to them did not lead to habituation. A high proportion of the students and doctors stated that exposure to corpses had a positive effect on their dealings with living patients. The reluctance of some doctors to attend autopsies of their patients is connected with their difficulties in coping with the experience. Further, more detailed studies are called for.

Adaptation, Psychological↗

PubMed1981

"New chronic" patients.

A five-year follow-up of 1467 mental hospital patients showed that 501 had died, 449 had been discharged, and 517 were still resident. During this period 81 "new chronic" patients aged under 65 were admitted: 49 were readmissions and 15 of 32 first admissions had had previous periods in other psychiatric hospitals. Many new chronic patients were old chronic with intervals of community care, and one-third of them were likely to require permanent care. These findings provide no comfort for those who believe that present DHSS plans for mental health services can ever be realised.

Chronic Disease↗

PubMed1975

Census of mental hospital patients and life expectancy of those unlikely to be discharged.

A census in a London mental hospital was performed so that the numbers of patients requiring permanent care for the next 20 to 40 years could be estimated. Of 1467 resident patients 20% had been admitted in the preceding five months and 15% in the year before that. Of the 65% who had been in hospital for over 17 months 1% (16 patients) had been in hospital for over 5o years. Altogether 257 (18%) patients would probably be discharged, 339 (23%) might possibly be discharged if there were adequate community facilities, but 871 (59%) were not likely to be discharged; 239 patients under the age of 65 who had been admitted between 1950 and 1973 were unlikely to be discharged. There were about 10 new younger long-stay patients from each year's admissions. Three conditions--schizophrenia, organic brain syndrome, and affective illness--affected 79% of the population. Fourteen per cent had been employed on admission and 28% were considered employable or possibly employable. Half of those who might be considered for discharge (296) would need a hostel. No rehabilitation was needed or possible for 40% of the patients; 299 (20%) patients were chairbound or bedridden and 400 (27%) were totally dependent on nursing and 587 (40%) partly dependent. Twenty months after the census 361 (25%) patients had left (59 had been readmitted), 284 (19%) had died, and 822 (56%) had remained as inpatients. The most realistic future prediction was that 210 (14%) of these patients would still be in the hospital in 20 years and 43 (3%) in 40 years. In the light of these findings and the scarceness of resources current Department of Health and Social Security plans for phasing out mental hospitals must be challenged.

Affective Symptoms↗