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Biomedical subjects

J Schmutz

Publications and source records attributed to J Schmutz.

At least 19 recordsLinked to original sources
PubMed2006

The genome of black cottonwood, Populus trichocarpa (Torr. & Gray).

We report the draft genome of the black cottonwood tree, Populus trichocarpa. Integration of shotgun sequence assembly with genetic mapping enabled chromosome-scale reconstruction of the genome. More than 45,000 putative protein-coding genes were identified. Analysis of the assembled genome revealed a whole-genome duplication event; about 8000 pairs of duplicated genes from that event survived in the Populus genome. A second, older duplication event is indistinguishably coincident with the divergence of the Populus and Arabidopsis lineages. Nucleotide substitution, tandem gene duplication, and gross chromosomal rearrangement appear to proceed substantially more slowly in Populus than in Arabidopsis. Populus has more protein-coding genes than Arabidopsis, ranging on average from 1.4 to 1.6 putative Populus homologs for each Arabidopsis gene. However, the relative frequency of protein domains in the two genomes is similar. Overrepresented exceptions in Populus include genes associated with lignocellulosic wall biosynthesis, meristem development, disease resistance, and metabolite transport.

Arabidopsis↗
PubMed2005

The impact of past alcohol use on treatment response rates in patients with chronic hepatitis C.

BACKGROUND: Studies have shown that past alcohol consumption reduces response rates in patients with chronic hepatitis C treated with interferon monotherapy. AIM: To clarify the importance of alcohol consumption on response rates in patients undergoing treatment with pegylated interferon and ribavirin. METHODS: In a single centre, prospective study, median daily alcohol consumption (determined by previously validated method) and quartiles of alcohol consumption were calculated. Univariate and binary logistic regression analyses were performed using treatment response status as the dependent variable. RESULTS: Overall, in an intention-to-treat analysis, 34 of 115 patients (30%) responded to treatment. In univariate analysis, black patients, especially those with hepatitis C virus genotype 1, high viral load and low alanine aminotransferase were significantly less likely to respond. Predictors of response by regression analysis included alcohol <30 g/day (OR=3.02, 95% CI: 1.02-8.93; P=0.04), non-genotype 1 status (OR=1.98, 95% CI: 1.03-3.80; P=0.04) and non-black race (OR=2.79, 95% CI: 1.33-5.85; P=0.006). CONCLUSIONS: Median daily alcohol use >30 g/day is associated with failure to respond to pegylated interferon and ribavirin for treatment of hepatitis C. Past alcohol use should be evaluated when considering treatment for hepatitis C.

Adult↗
PubMed2001

A physical map of the human genome.

The human genome is by far the largest genome to be sequenced, and its size and complexity present many challenges for sequence assembly. The International Human Genome Sequencing Consortium constructed a map of the whole genome to enable the selection of clones for sequencing and for the accurate assembly of the genome sequence. Here we report the construction of the whole-genome bacterial artificial chromosome (BAC) map and its integration with previous landmark maps and information from mapping efforts focused on specific chromosomal regions. We also describe the integration of sequence data with the map.

Chromosomes, Artificial, Bacterial↗
PubMed2001

Comparative DNA sequence analysis of mouse and human protocadherin gene clusters.

The genomic organization of the human protocadherin alpha, beta, and gamma gene clusters (designated Pcdh alpha [gene symbol PCDHA], Pcdh beta [PCDHB], and Pcdh gamma [PCDHG]) is remarkably similar to that of immunoglobulin and T-cell receptor genes. The extracellular and transmembrane domains of each protocadherin protein are encoded by an unusually large "variable" region exon, while the intracellular domains are encoded by three small "constant" region exons located downstream from a tandem array of variable region exons. Here we report the results of a comparative DNA sequence analysis of the orthologous human (750 kb) and mouse (900 kb) protocadherin gene clusters. The organization of Pcdh alpha and Pcdh gamma gene clusters in the two species is virtually identical, whereas the mouse Pcdh beta gene cluster is larger and contains more genes than the human Pcdh beta gene cluster. We identified conserved DNA sequences upstream of the variable region exons, and found that these sequences are more conserved between orthologs than between paralogs. Within this region, there is a highly conserved DNA sequence motif located at about the same position upstream of the translation start codon of each variable region exon. In addition, the variable region of each gene cluster contains a rich array of CpG islands, whose location corresponds to the position of each variable region exon. These observations are consistent with the proposal that the expression of each variable region exon is regulated by a distinct promoter, which is highly conserved between orthologous variable region exons in mouse and human.

Animals↗
PubMed2000

[Contact dermatitis due to ethyl alcohol: how to perform patch tests?].

INTRODUCTION: Ethyl alcohol sensitization is rare and can induce immediate contact urticaria or delayed eczema. Patch tests performed with ethanol can provoke an irritative reaction and are not well codified. CASE-REPORTS: We report on 4 cases of contact dermatitis due to alcohol in 4 women. Eczema was due to alcohol contained in the reservoir of a transdermal transfer system with estrogens in 2 cases and related to the application of alcoholized antiseptic lotions in the other 2 cases. In 2/4 cases we observed a co-sensitization with corticosteroids. METHODS: Patch tests were performed with alcohol at 95 degrees diluted at 70 p. 100 and at 10 p. 100 in water and read after 20 minutes then on day 2 and day 4. RESULTS: Positive results were obtained in 4/4 cases when alcohol was tested diluted at 70 p. 100 in water and in 3/4 cases when diluted at 10 p. 100 in water. No irritant reaction was observed in 140 negative controls. DISCUSSION: Immediate after 20 minutes and delayed readings of patch tests performed with ethyl alcohol diluted at 70 p. 100 seem to be convenient in diagnosing cutaneous delayed hypersensitivity to alcohol. Co-sensitization between corticosteroids and alcohol could be due to an aldehyde deshydrogenase deficiency.

Administration, Topical↗
PubMed1985

[Intestinal parasitosis in irritable colon].

Parasitic infestation of the intestinal tract was investigated in a prospective study of 177 patients from southern Europe and Turkey. In a group of patients (n = 127) who attended the Medical Outpatients Department because of abdominal pain, pathogenic parasites were isolated from a single stool sample in 69 (54%). 19 patients had 2 or more parasites. 22 out of 25 patients reviewed after treatment were free of parasites, and 17 were symptom-free. Abdominal pain persisted unchanged in 8 patients. In a second group of patients (n = 50) with extraabdominal symptoms, 11 (22%) had pathogenic parasites in stool. Multiple infestation did not occur in this group. The results show that in this population group stool examination for parasites should be carried out routinely in the investigation of abdominal pain. The high prevalence rate possibly justifies a search for parasites even where there are no intestinal symptoms.

Adult↗
PubMed1984

[The differential diagnosis of indolent ulcers upon return from the Tropics: frambesia].

A 26-year-old patient was referred for investigation of chronic skin ulcerations which had appeared 2 months after a one-week stay in the Ivory Coast. The diagnosis was established clinically and serologically and the patient was successfully treated with penicillin. Even if yaws is a rare imported disease in Switzerland, it should always be considered in differential diagnosis of painless skin ulcerations in travellers returning from tropical countries, bearing in mind that the number of cases of yaws has increased in several tropical countries.

Adult↗