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Biomedical subjects

E Mooney

Publications and source records attributed to E Mooney.

At least 19 recordsLinked to original sources

Family study of atypical nevi with investigation of heparin sulfate proteoglycan.

BACKGROUND: The epidemiology of atypical nevi (AN) is currently obscure; however the diagnosis must be made early in order to follow these individuals and treat any melanomas that may arise at an early stage, thus preventing premature death. MATERIALS AND METHODS: Following the guidelines of the NIH on clinical and histologic features of ANS, 38 adult members in 8 families were investigated. Twenty-seven were physically examined and 25 biopsied. Biopsies from ANS and junctional nevi from unrelated persons were also stained with antibodies against heparan sulfate proteoglycan (HSPG). RESULTS: At least 21 of 38 members had ANS. Staining with HSPG antibodies did not differentiate between ANS and benign junctional nevi, all showing slightly irregular staining. In seven of eight families, two or more family members were affected by ANS. CONCLUSIONS: Although it is not known whether or not HSPG plays a role in melanomas becoming invasive, or the potential of melanoma developing in ANS there were no differentiating features of staining in ANS, and junctional nevi to help in the differential-diagnosis of the two.

Adult

A unique congenital glossocervical fistula.

Lateral cervical fistulae which communicate with the oropharynx are considered to result from incomplete obliteration of the second branchial cleft and pouch. Classically these fistulae have a well-defined pathway through the neck. We present a case, and discuss the aetiology, of a fistula extending from the lateral neck via a previously undescribed course through the neck structures and opening into the posterior aspect of the tongue at the level of the vallate papillae.

Adult

Studies on complement deposits in epidermolysis bullosa acquisita and bullous pemphigoid.

Epidermolysis bullosa acquisita (EBA) is an inflammatory subepidermal blistering disease characterized by circulating and tissue-bound autoantibodies specific for type VII collagen of the basement membrane zone. The antibodies consist of both complement- and noncomplement-binding populations and belong to all four subclasses of IgG. We investigated the presence of the membrane attack complex C3b, C5, and S protein in EBA and compared C3b and C5 in EBA and bullous pemphigoid. In 10 patients with EBA, these components were detected at the basement membrane zone as follows: membrane attack complex, 90%; S protein, 90%; direct C5, 90%; C3b, 100%; and C5 binding, 90%. In the patients with bullous pemphigoid, the results were as follows: direct C5, 58%; C3b, 33%; and C5 binding, 19%. These results provide additional evidence for complement activation at the basement membrane zone in EBA, show that complement activation in EBA proceeds to activation of terminal complement components, and suggest that EBA antibodies are more potent activators of C5 than are bullous pemphigoid antibodies.

Basement Membrane

Characterization of the changes in matrix molecules at the dermoepidermal junction in lupus erythematosus.

Electron microscopy has revealed that the deposition of immunoglobulin in the skin of lupus erythematosus (LE) patients occurs on and below the basal lamina of the basement membrane (BM). The composition of the BM is now to some extent known, and antibodies have been developed against several of its individual components. In this study, we attempt to elucidate the status of some matrix molecules in the dermoepidermal junction in LE. Lesional and nonlesional skin from LE patients was examined using immunofluorescence microscopy with monoclonal and polyclonal antibodies against 6 matrix molecules. Immuno-electron microscopy using monoclonal antibodies was used to discern changes in type IV and type VII collagen. By immuno-fluorescence microscopy, type IV collagen, type VII collagen, and fibronectin were altered in lesional skin. There was a statistically significant correlation between the presence of immunoglobulin and alteration of type IV collagen and type VII collagen in lesional skin. The alterations in type IV and type VII collagens were confirmed on immuno-electron microscopy which showed fragmentation of staining of both antigenic components, particularly type IV collagen.

Antibodies, Monoclonal

The role of aspiration cytologic examination in the diagnosis of carcinoma of the breast.

A study of 2,000 patients who had undergone fine needle aspiration of a solid lump of the breast was conducted to determine the accuracy of this technique. During the period 1982 to 1989, all patients with a solid mammary mass, presenting to a specialized breast unit were initially investigated by fine needle aspiration cytologic examination (FNAC). To date, we present data on 2,000 consecutive aspirations with matching histologic diagnosis on the excised pathologic specimens. In particular, the relationship between tumor histologic factors and the accuracy of cytologic diagnosis was examined. The sensitivity of FNAC in the diagnosis of a malignant growth was 84 per cent; this represents first aspiration results only. The specificity was more than 99 per cent. The rate of acellular or unsatisfactory aspirations was 12 per cent. We had a positive predictive rate for diagnosis in carcinoma of the breast of almost 95 per cent. The diagnosis of lobular and in situ patterns of disease was questioned, with three of three in situ lesions and ten of 23 lobular lesions missed by FNAC. We do not recommend that FNAC replace excision biopsy and frozen section in the diagnosis of carcinoma of the breast.

Biopsy, Needle

Heavy and light chain isotypes of immunoglobulin in epidermolysis bullosa acquisita.

Epidermolysis bullosa acquisita (EBA) is a chronic acquired blistering disease with characteristic clinical, pathologic, and immunopathologic features. The disease is characterized immunopathologically by circulating and tissue-bound IgG class autoantibodies (EBA antibodies) to the basement membrane zone of stratified squamous epithelium. Previous studies have shown that circulating and tissue-bound EBA antibodies are heterogenous in their ability to activate complement and have raised the possibility that functional heterogeneity might be related to IgG subclass restriction. In this study, we have characterized the IgG subclasses of the circulating and tissue-bound EBA antibodies by immunofluorescence and have examined the relationship between IgG subclass and complement binding. The results show that EBA antibodies belonging to all IgG subclasses are present in the skin of EBA patients. The results also show that EBA antibodies belonging to all IgG subclasses are present in the sera of most patients, including sera with and without complement binding EBA antibodies.

Basement Membrane

Distal oesophageal ph monitoring for gastro-oesophageal reflux.

We investigated eight hour distal intra-oesophageal ph testing to see if this could replace the traditional 24 hour test period without significant loss of sensitivity in the diagnosis of gastro-oesophageal reflux (GOR) disease in symptomatic refluxers. Thirty-four patients were tested, all of whom had classical De Meester symptoms of GOR. All patients were admitted to hospital and commenced on 24 hour ambulant ph monitoring of the distal oesophagus. This was followed by a period of eight hour testing. The following variables were determined: (i) total reflux time, (ii) number of reflux episodes (total, upright and supine), (iii) longest episode of reflux, (iv) percent of time that ph was below four (total, upright and supine). All patients underwent endoscopic examination of the oesophagus subsequently. Twenty four hour monitoring resulted in a positive diagnosis of GOR in 26 of 34 patients, giving an overall sensitivity of 75%. Eight hour testing was positive in 23 patients (sensitivity of 68%, not significantly different). The best correlations were obtained when comparing total reflux episodes (r = 0.75, p less than 0.001), and the percent time ph less than 4 (total) (r = 0.69, p less than 0.001). Nineteen patients had evidence of oesophagitis on endoscopy, and in all such patients both eight and 24 hour testing were positive. We conclude therefore, that eight hour ph monitoring can be reliably used in the diagnosis of pathological GOR in patients symptomatic for acid reflux.

Esophagitis

Subacute cutaneous lupus erythematosus in Iceland.

Identification of patients with subacute cutaneous lupus erythematosus (SCLE) in Iceland was performed by means of a survey based on the histopathologic or immunofluorescent diagnosis of lupus erythematosus. Respondents underwent serologic studies, gave histories, and, dependent upon the latter, were examined. The resultant proportional rate of patients with SCLE approached 10% of all lupus erythematosus cases.

Antibodies, Antinuclear

The immunology of cutaneous lupus erythematosus.

The immunologic mechanisms involved in cutaneous lupus erythematosus are closely tied to the histologic and ultrastructural changes seen at the dermo-epidermal junction. These alterations are reviewed and an attempt is made to interrelate them with the current ideas on pathogenesis and therapy.

Basement Membrane

Periungual hyperpigmentation mimicking Hutchinson's sign associated with minocycline administration.

An assessment of the occurrence rate of periungual hyperpigmentation with subungual melanoma (Hutchinson's sign) and periungual hyperpigmentation with other subungual lesions has not been published, although periungual hyperpigmentation with a pigmented streak or other pigmented lesion of the nail has been considered pathognomonic for subungual melanoma for a century. We report a case of minocycline hyperpigmentation presenting as a longitudinal pigmented streak of the nail associated with periungual hyperpigmentation. These pigmentary changes could be mistaken for Hutchinson's sign.

Adult

Detection of splenosis: 99Tcm tin colloid scanning and computed transmission tomography compared.

Ten patients who had been splenectomized for trauma between 1 and 11 years previously were studied by computed tomography (CT) and radionuclide scanning with 99Tcm tin colloid on the same day. Computed tomography detected splenic tissue in three patients. Radionuclide scanning detected splenic tissue in eight patients, including two cases of typical splenosis not identified by CT. Radionuclide scanning was found to be more sensitive in the detection of residual splenic tissue than CT.

Adult

Hereditary complement (C6) deficiency associated with systemic lupus erythematosus, Sjögren's syndrome and hyperthyroidism.

Results of clinical, serologic and histologic studies documenting an association between hereditary C6 deficiency and a connective tissue disease are provided. The propositus had systemic lupus erythematosus with prominent discoid features, Sjögren's syndrome and hyperthyroidism. Serum C6 was undetectable by radial immunodiffusion and hemolytic assays. Serologic and typing studies performed on 9 family members suggested an autosomal codominant transmission. No correlation with a specific HLA phenotype was established.

Complement C6

Dermatophytes in Iceland.

Prior to 1982, no reliable information was available on prevailing dermatophyte species or infections in Iceland. In 1983-1984 fungal cultures performed on 96 patients revealed that Trichophyton tonsurans was the most common isolate, followed by Trichophyton mentagrophytes and Trichophyton rubrum. There were no cases of tinea capitis and tinea corporis was rare, but the most common sites of infection were the feet and toenails.

Arthrodermataceae