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Biomedical subjects

A N Moshell

Publications and source records attributed to A N Moshell.

At least 19 recordsLinked to original sources
PubMed1995

Incidence of alopecia areata in Olmsted County, Minnesota, 1975 through 1989.

OBJECTIVE: To assess the incidence and natural history of alopecia areata (AA) among unselected patients from a community. DESIGN: We conducted a retrospective population-based descriptive study of AA among residents of Olmsted County, Minnesota, for the period from 1975 through 1989. MATERIAL AND METHODS: After identifying 292 Olmsted County residents first diagnosed with AA during the 15-year study period, we reviewed their complete (inpatient and outpatient) medical records in the community and statistically analyzed the effects of gender and age-group. RESULTS: The overall incidence of AA was 20.2 per 100,000 person-years and did not change with time. Rates were similar in the two genders and over all ages, and lifetime risk was estimated at 1.7%. Eighty-seven percent of patients were examined by a dermatologist who diagnosed AA, and 29% of cases were confirmed by biopsy. Most patients had mild or moderate disease, but alopecia totalis or universalis developed at some point during the clinical course in 21 patients. CONCLUSION: This study of the incidence and natural history of AA in a community shows that this disorder is fairly common and can be seen at all ages. Although spontaneous resolution is expected in most patients, a small but significant proportion of cases (probably approximately 7%) may evolve into severe and chronic hair loss, which may be psychosocially devastating for affected persons.

Adolescent↗
PubMed1993

Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.

Xeroderma pigmentosum is a genetically heterogeneous disease caused by DNA repair defects resulting in skin cancer and, in some patients, a primary neuronal degeneration which has in all previous reports become symptomatic prior to age 21 years. A 47-year-old xeroderma pigmentosum patient is described who, although neurologically asymptomatic, has sensorineural hearing loss together with clinical signs and electrophysiologic evidence of a developing peripheral neuropathy. This case suggests that defective DNA repair may cause neurodegeneration in adults as well as in children.

Consanguinity↗
PubMed1989

Prevention of skin cancer in xeroderma pigmentosum with oral isotretinoin.

To confirm reports that skin cancer can be prevented with retinoid treatment, a three-year controlled prospective study was conducted of oral isotretinoin in five patients with xeroderma pigmentosum who had a history of multiple cutaneous basal cell or squamous cell carcinomas. Patients were treated with isotretinoin, 2 mg/kg per day for two years, and then evaluated for an additional year without using the drug. Before, during, and after treatment, biopsy specimens of all suspicious lesions were examined, and skin cancers were removed surgically. The patients had a total of 121 tumors in the two years before treatment. During two years of treatment with isotretinoin, there were twenty-five tumors, with an average reduction in skin cancers of 63 percent (p = 0.019). After use of the drug was discontinued, the tumor frequency increased a mean of 8.5 times over the frequency during treatment (p = 0.007). Although all patients experienced mucocutaneous toxic effects, and abnormalities in triglyceride levels, results of liver function tests, or skeletal findings occurred in some, high-dosage oral isotretinoin was effective in the chemoprophylaxis of skin cancers in patients with xeroderma pigmentosum.

Administration, Oral↗
PubMed1988

Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin.

To confirm reports that skin cancer can be prevented with retinoids, we conducted a three-year controlled prospective study of oral isotretinoin (also called 13-cis retinoic acid) in five patients with xeroderma pigmentosum who had a history of multiple cutaneous basal-cell or squamous-cell carcinomas. Patients were treated with isotretinoin at a dosage of 2 mg per kilogram of body weight per day for two years and then followed for an additional year, without the drug. Before, during, and after treatment, biopsies of all suspicious lesions were performed, and skin cancers were surgically removed. The patients had a total of 121 tumors (mean, 24; range, 8 to 43) in the two-year interval before treatment. During two years of treatment with isotretinoin, there were 25 tumors (mean, 5; range, 3 to 9), with an average reduction in skin cancers of 63 percent (P = 0.019). After the drug was discontinued, the tumor frequency increased a mean of 8.5-fold (range, 2- to 19-fold) over the frequency during treatment (P = 0.007). Although all patients experienced mucocutaneous toxic effects, and triglyceride, liver-function, or skeletal abnormalities developed in some, high-dose oral isotretinoin was effective in the chemoprophylaxis of skin cancers in patients with xeroderma pigmentosum.

Administration, Oral↗
PubMed1987

Morphogenesis and malformations of the skin NICHD/NIADDK research workshop.

Developmentally caused skin malformations constitute a spectrum of birth defects, some of which can be recognized prenatally by morphologic or biochemical means. The number of prenatally diagnosable skin diseases could be greatly expanded with an increased understanding of the molecular and cellular bases of skin development and the mechanisms that result in the generation of skin defects. The National Institute of Child Health and Human Development and the National Institute of Arthritis, Diabetes, Digestive and Kidney Diseases, therefore, sponsored a workshop that recommended basic biologic studies combined with clinical investigations of normal and abnormal cutaneous development set forth in this article. Investigations resulting from these research recommendations are intended to contribute to the knowledge that should aid in the prevention of developmentally caused skin deformities.

APUD Cells↗
PubMed1984

Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.

Lymphoblastoid lines from nine Usher's syndrome (recessively inherited retinitis pigmentosa and congenital sensorineural deafness) patients (representing eight kindreds) and from ten Duchenne muscular dystrophy patients (representing seven kindreds) showed a small but statistically significant hypersensitivity to the lethal effects of X-rays, as measured by the cellular ability to exclude the vital dye trypan blue, when compared with lines from 26 normal control subjects. Fibroblast lines from the Usher's syndrome patients, treated with X-rays or the radiomimetic, DNA-damaging chemical N-methyl-N'-nitro-N-nitrosoguanidine, also showed a statistically significant hypersensitivity when compared to normal fibroblast lines. These findings are consistent with the possibility that defective DNA repair mechanisms may be involved in the pathogenesis of these degenerative diseases.

Adolescent↗
PubMed1983

Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is an autosomal recessive disorder with hypersensitivity to the lethal effects of ultraviolet radiation caused by inherited defects in deoxyribonucleic acid (DNA) repair processes. Some patients with XP develop a primary neuronal degeneration which has been thought to result from unrepaired damage in neuronal DNA. Five years ago we reported that cultured skin fibroblasts from a 12-year-old girl with XP, who then had only one major neurological abnormality of the disease, had a sensitivity to ultraviolet radiation intermediate between that of XP patients with numerous neurological abnormalities and those with none. Recent neurological studies reveal that she has a slowly but progressively developing sensorineural deafness as well as cerebellar and motor dysfunction typical of XP. The results support the postulate that defective DNA repair is associated with premature neuron death.

Adolescent↗
PubMed1982

Ocular involvement in xeroderma pigmentosum.

A 37-year-old, white woman with xeroderma pigmentosum had reduced vision for many years because of primary and secondary corneal epithelial edema and stromal haze. Corneal grafting was required, but was not successful. Numerous primary dermal tumors of various types involving the lids of both eyes had been excised surgically or treated by freezing with liquid nitrogen. Squamous cell carcinomas involving the limbal area of the globe and adjacent tissues were excised from the left eye at age 12, the right eye at age 32, and the left eye (again) at age 36. The right limbal tumor soon recurred and invaded the orbit despite radiation treatment; this required right orbital exenteration. The second left limbal tumor recurred one year later, soon after the recurrence of a left lower lid basal cell carcinoma. Left orbital exenteration was required. Corneal graft failures and recurrent ocular squamous cell carcinoma involving the eye in xeroderma pigmentosum can be difficult management problems.

Adolescent↗