Smoking and coffee intake following alcohol withdrawal in alcoholic inpatients

The aim of this study was to assess alcoholic inpatients' smoking and coffee intake variation following withdrawal. Only moderate smokers (less than 30 cigarettes/day) showed a significant increase of cigarette consumption after alcohol withdrawal. However, their urinary cotinine level did not vary, suggesting a behavioral, and not biological, compensation through smoking following alcohol withdrawal. Heavy smokers (30 cigarettes/day or more) showed no significant clinical or biological variation of smoking behavior. Coffee consumption increased after alcohol withdrawal in all patients, irrespective of smoking habits.     

Innovative Laboratory Techniques to Facilitate Processing of Large Mohs Cases

Background Processing multiple tissue sections in large Mohs cases is time consuming and labor intensive.
Objective To present innovative laboratory techniques to facilitate processing of large Mohs cases.
Methods A method for processing a large dermatofibrosarcoma protuberans Mohs case is outlined.
Results Modifications in tissue processing and equipment employed in a large Mohs case are presented.
Conclusion Innovative modifications to the standard Mohs laboratory technique can facilitate processing of large Mohs cases, resulting in high-quality, rapid frozen sections while optimizing efficiency.     

Regional Variation in Wound Contraction of Mohs Surgery Defects Allowed to Heal by Second Intention

BACKGROUND: The phenomenon of wound contraction results in a decrease in wound size and a healed scar significantly smaller than the original defect. OBJECTIVE: This study was undertaken (1) to determine the amount of wound contraction in Mohs surgery defects allowed to heal by second intention, (2) to evaluate for regional differences in wound contraction based on the facial anatomic zones for second intention healing described by Zitelli, and (3) to determine whether regional differences in wound contraction account for observed differences in cosmetic outcome. METHODS: One hundred sixty secondarily healed Mohs surgery defects limited to the head and neck having a wound age of greater than 12 weeks in 102 consecutively examined patients were carefully measured with a tissue caliper. The percent wound contraction was calculated and compared for each Zitelli anatomic subunit. The final shape of the wound (quantitatively described) and the cosmetic acceptability (subjectively rated by the patient and examiner) were also compared with the percent wound contraction for each anatomic area. RESULTS: Both NEET (concave surface of the nose, eye, ear, and temple) and FAIR (forehead, antihelix, eyelids, and the remainder of the nose, lips, and cheeks) areas were identical in terms of mean wound contraction (74%), cosmetic acceptability (97%), and conversion to a wound shape with a ratio of maximal length to width of greater than 3.0 (fusiform and linear shapes) (52%). NOCH areas (convex surface of the nose, oral lips, cheeks and chin, and the helix of the ear) demonstrated less wound contraction (66%), cosmetic acceptability (78%), and fusiform-linear conversion (29%). Subset differences and variables that appear to influence wound contraction are discussed. Secondarily healed wounds in areas with one or more positive contraction variables contract 75%, whereas defects in areas with negative contraction variables contract 55%. CONCLUSIONS: Regional differences in wound contraction of secondarily healed head and neck wounds exist and account for some differences in cosmetic acceptability. Scar location, regardless of the degree of wound contraction, is the most important factor for the final cosmetic outcome.     

Ghrelin expression in hyperplastic and neoplastic proliferations of the enterochromaffin-like (ECL) cells

Ghrelin, a recently discovered peptide isolated from the gastric corpus mucosa, is believed to be important in the regulation of growth hormone secretion and has been shown to increase appetite and food intake as well. It may also have other gastrointestinal and cardiac functions. Because a cell of origin for ghrelin has not been convincingly identified in the gastric mucosa thus far, we studied the immunohistochemical expression of ghrelin in proliferative lesions of the enterochromaffin-like (ECL) cells—a cell that is not only exclusively confined to the gastric corpus mucosa but is its dominant endocrine cell type as well. Formalin-fixed, paraffin embedded tissues from three cases of gastric ECL cell hyperplasia and five ECL carcinoids (three with coexisting foci of diffuse, linear, and micronodular hyperplasia) were immunohistochemically stained for ghrelin, using a commercially available antibody. The Sevier-Munger stain for ECL cells and immunohistochemical stains for chromogranin, gastrin, serotonin, somatostatin, and vesicular monoamine transporter-2 (VMAT-2) were performed on parallel sections for correlation with the ghrelin staining results. All ECL cell carcinoids and hyperplastic lesions were positive for both the Sevier-Munger and the immunohistochemical stains for chromogranin and VMAT-2. Immunoreactivity for ghrelin was seen in 4/5 ECL carcinoids, all cases of ECL cell hyperplasia, as well as in all areas with linear and micronodular hyperplasia adjacent to the ECL cell carcinoids. In each instance, such staining was confined to the Sevier-Munger, and VMAT-2 positive cells only. Our findings indicate that the ECL cells are either the ghrelin-producing cells of the gastric mucosa or acquire the capability to synthesize ghrelin during proliferative states encompassing the entire hyperplasia to neoplasia spectrum. In view of the orexigenic and other known actions of ghrelin, the functional and/or biologic significance of ghrelin production in such ECL cell proliferations needs to be investigated further.     

Predominance of null mutations in ataxia-telangiectasia

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, ATM, was recently identified by positional cloning and found to encode a putative 350 kDa protein with a Pl 3-kinase-like domain, presumably involved in mediating cell cycle arrest in response to radiation-induced DNA damage. The nature and location of A-T mutations should provide insight into the function of the ATM protein and the molecular basis of this pleiotropic disease. Of 44 A-T mutations identified by us to date, 39 (89%) are expected to inactivate the ATM protein by truncating it, by abolishing correct initiation or termination of translation, or by deleting large segments. Additional mutations are four smaller in-frame deletions and insertions, and one substitution of a highly conserved amino acid at the Pl 3-kinase domain. The emerging profile of mutations causing A-T is thus dominated by those expected to completely inactivate the ATM protein. ATM mutations with milder effects may result in phenotypes related, but not identical, to A-T.      

Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat which encodes glutamine in the novel protein ataxin-1. In order to characterize the developmental expression pattern of SCA1 and to identify putative functional domains in ataxin-1, the murine homolog (Sca1) was isolated. Cloning and characterization of the murine Sca1 gene revealed that the gene organization is similar to that of the human gene. The murine and human ataxin-1 are highly homologous but the CAG repeat is virtually absent in the mouse sequence suggesting that the polyglutamine stretch is not essential for the normal function of ataxin-1 in mice. Cellular and developmental expression of the murine homolog was examined using RNA in situ hybridization. During cerebellar development, there is a transient burst of Sca1 expression at postnatal day 14 when the murine cerebellar cortex becomes physiologically functional. There is also marked expression of Sca1 in mesenchymal cells of the intervertebral discs during development of the spinal column. These results suggest that the normal Sca1 gene, has a role at specific stages of both cerebellar and vertebral column development.      

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

Previous studies on a limited number of ataxia-telangiectasia (A-T) patients with detectable levels of intracellular ATM protein have suggested a genotype/phenotype correlation. We sought to elucidate this possible correlation by comparing ATM protein levels with mutation types, radiosensitivity, and clinical phenotype. In this study, Western blot analysis was used to measure ATM protein in lysates of lymphoblastoid cell lines (LCLs) from 123 unrelated A-T patients, 10 A-T heterozygotes, and 10 patients with phenotypes similar to A-T. Our Western blot protocol can detect the presence of ATM protein in as little as 1 microg of total protein; at least 25 microg of protein was tested for each individual. ATM protein was absent in 105 of the 123 patients (85%); most of these patients had truncating mutations. The remaining subset of 18 patients (15%) had reduced levels of normal-sized ATM protein; missense mutations were more common in this subset. We used a colony survival assay to characterize the phenotypic response of the LCLs to radiation exposure; patients with or without detectable ATM protein were typically radiosensitive. Nine of 10 A-T heterozygotes also had reduced expression of ATM, indicating that both alleles contribute to ATM protein production. These data suggest that although ATM-specific mRNA is abundant in A-T cells, the abnormal ATM protein is unstable and is quickly targeted for degradation. We found little correlation between level of ATM protein and the type of underlying mutation, the clinical phenotype, or the radiophenotype.     

Clinical and immunological studies in a case of selective complete C1q deficiency

A 10-year-old male with recurrent skin lesions and chronic infections was found to have a selective deficiency of C1q after functional analysis of all complement components. The addition of highly purified human C1q to the patient's serum restored C1 activity, indicating the presence of C1r and C1s and the absence of C1q. Titration of highly purified C1q with patient serum as a source of C1r and C1s resulted in a linear dose-response curve. The undetectable CH50 activity temporarily returned to normal within a few hours of plasma infusion, but the C1 titres were still only 1–3% of normal. Following plasma administration, the peak of C1q activity was reached after 30 min and returned to undetectable levels within 24 hr. The patient serum was not anti-complementary when incubated with normal serum. Nine members of the family, including the parents and two healthy siblings, were subjected to complement studies and HLA typing. The C1 titres and CH50 activity were found to be normal in all except the paternal grandmother who showed reduced levels of all the complement components. There was no linkage for the gene of C1q deficiency and HLA antigens. Among the various laboratory studies performed, anti-smooth muscle antibodies, immune complexes and anti-HBsAg antibody were found to be positive. The child died of a disease compatible with septicaemia. Post mortem tissue studies by light, fluorescent and electron microscopy have shown the presence of a mesangioproliferative glomerulonephritis.