PubMed Health⌕ Search

Biomedical subjects

M Stiller

Publications and source records attributed to M Stiller.

At least 19 recordsLinked to original sources
PubMed2006

Patterns of nucleotide misincorporations during enzymatic amplification and direct large-scale sequencing of ancient DNA.

Whereas evolutionary inferences derived from present-day DNA sequences are by necessity indirect, ancient DNA sequences provide a direct view of past genetic variants. However, base lesions that accumulate in DNA over time may cause nucleotide misincorporations when ancient DNA sequences are replicated. By repeated amplifications of mitochondrial DNA sequences from a large number of ancient wolf remains, we show that C/G-to-T/A transitions are the predominant type of such misincorporations. Using a massively parallel sequencing method that allows large numbers of single DNA strands to be sequenced, we show that modifications of C, as well as to a lesser extent of G, residues cause such misincorporations. Experiments where oligonucleotides containing modified bases are used as templates in amplification reactions suggest that both of these types of misincorporations can be caused by deamination of the template bases. New DNA sequencing methods in conjunction with knowledge of misincorporation processes have now, in principle, opened the way for the determination of complete genomes from organisms that became extinct during and after the last glaciation.

Animals↗
PubMed2003

[Clinical and molecular genetic observations on families with cherubism over three generations].

BACKGROUND: Cherubism is a rare fibro-osseous disorder that almost exclusively affects the maxilla and mandible. CASE REPORT: We report on three affected males in three generations in family A, and ten affected patients in family B. The youngest affected relative in family A also had craniosynostosis. His father and grandfather had cherubism and clubbed fingers. RESULTS AND DISCUSSION: Cherubism was mapped to region 4p16.3. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. The inheritance pattern is autosomal dominant with variable expression. The penetrance is 100% in males and 50-70% in females. We found incomplete penetrance in males, which does not conform with all publications.

Adolescent↗
PubMed2001

Direct medical costs for surgical and medical treatment of condylomata acuminata.

OBJECTIVE: To determine which treatment modalities for condylomata acuminata are associated with the lowest direct medical costs. DESIGN: Cost-effectiveness analysis. SETTING: Ambulatory private practice, primary or specialty care. PATIENTS OR OTHER PARTICIPANTS: Adults with no presenting complaints other than condylomata acuminata. INTERVENTIONS: Construction of a cost-effectiveness model. From a literature review, extraction of commonly accepted guidelines regarding duration and frequency as well as reports of efficacies of typical treatment regimens; from Medicare physician fee schedules, costs of physician visits and physician-administered treatments; from published data, average wholesale prices of medications. MAIN OUTCOME MEASURE: Estimated direct medical costs per complete clearance associated with different treatment options for condylomata acuminata. RESULTS: Mean direct medical costs per complete clearance are lowest for surgical excision ($285). Other low-cost modalities are loop electrosurgical excision procedure ($316), electrodesiccation ($347), carbon dioxide laser ($416), podofilox ($424), and pulsed-dye laser ($479). Higher-cost modalities are cryotherapy ($951), trichloroacetic acid ($986), imiquimod ($1255), podophyllum resin ($1632), and interferon alfa-2b ($6665). CONCLUSION: Surgical modalities, including excision, electrodesiccation, loop electrosurgical excision procedure, and laser, as well as podofilox are low-cost options for the treatment of condylomata acuminata.

Condylomata Acuminata↗
PubMed2001

Tazarotene 0.1% gel in the treatment of fingernail psoriasis: a double-blind, randomized, vehicle-controlled study.

A double-blind, randomized, vehicle-controlled, parallel-group trial was performed to compare the efficacy and tolerability of tazarotene 0.1% gel and vehicle gel in 31 patients with fingernail psoriasis. Patients were randomized to receive tazarotene or vehicle gel, which they applied each evening for up to 24 weeks to 2 target fingernails, one under occlusion and one unoccluded. The tazarotene treatment resulted in a significantly greater reduction in onycholysis in occluded nails (P < or = .05 at weeks 4 and 12) and a significantly greater reduction in onycholysis in nonoccluded nails (P < or = .05 at week 24). Tazarotene also resulted in a significantly greater reduction in pitting in occluded nails (P < or = .05 at week 24). There were no other significant between-group differences in pitting, subungual hyperkeratosis, leukonychia, nail plate crumbling/loss, splinter hemorrhage, or nail growth rate. Tazarotene 0.1% gel was well tolerated with only 5 of the 21 tazarotene-treated patients reporting a treatment-related adverse event (all mild or moderate). In conclusion, tazarotene 0.1% gel can significantly reduce onycholysis (in occluded and nonoccluded nails) and pitting (in occluded nails) and is well tolerated in the treatment of nail psoriasis.

Adult↗
PubMed2000

Craniosynostosis in cherubism.

Cherubism is a rare autosomal dominant fibro-osseous disorder that affects almost exclusively maxilla and mandible. Extracranial skeletal involvement is rare. We report on three affected males in three generations. The youngest affected relative was examined at age 4 months. He also had craniosynostosis. His affected father and grandfather had cherubism and clubbing of the fingers. Cherubism was mapped to region 4p16. Because of the associated cranio-synostosis, we excluded the FGFR3 gene as a candidate gene for cherubism.

Adult↗
PubMed2000

Primary and secondary Sjögren's syndrome in children--a comparative study.

Sjögren's syndrome is a chronic inflammatory systemic autoimmune disease mainly affecting the exocrine and, particularly, the salivary and lacrimal glands. The condition usually occurs in adults. In 1994, the criteria for this syndrome were redefined in a multicenter European study. In children, Sjögren's syndrome is a rare and probably underdiagnosed disease. To date, Sjögren's syndrome in children has only been described in case reports and in the comparative presentation of various study results. So far, no study of a comparative classification into primary and secondary Sjögren's syndrome has been carried out in a patient population of any size. Sjögren's syndrome should be considered in the differential diagnosis of children with recurrent parotitis, keratoconjunctivitis sicca, or pronounced and early tooth decay associated with xerostomia. In this study of 23 children and adolescents under the age of 16 with the clinical symptoms and laboratory findings of Sjögren's syndrome, we differentiate between primary and secondary Sjögren's syndrome. The value of the individual methods of assessing the oral and the ophthalmological components and the manifestation of the underlying rheumatic condition are discussed on the basis of the EULAR criteria. The EULAR diagnostic criteria are of limited applicability in children because reliable anamnestic data are frequently lacking. Another problem in diagnosing Sjögren's syndrome is the short-term detection of serological alterations and clinical symptoms. Even if young patients do not completely fulfill the required criteria, Sjögren's syndrome can be assumed or confirmed in the presence of positive testing for oral and ocular manifestations and recurrent salivary gland enlargement.

Adolescent↗
PubMed1999

Diagnostic value of sialography with both the conventional and digital subtraction techniques in children with primary and secondary Sjögren's syndrome.

OBJECTIVE: The application of anamnestic data on siccative symptoms required for classifying adult Sjögren's syndrome is limited in childhood. Instrumental test procedures are therefore necessary for objectively recording the oral and ophthalmologic manifestations of the disease. The aim of this study was to clarify the sialographic changes that occur in Sjögren's syndrome in children. STUDY DESIGN: A total of 23 sialograms were obtained with both conventional and digital subtraction techniques in 21 children with primary (10 girls and 1 boy) or secondary Sjögren's syndrome (10 girls). The films were assessed by 3 physicians and submitted for a consensus analysis if necessary. RESULTS: The pathologic features observed in the children varied from a slightly narrowed ductal system to multiple peripheral ductal ectasias and completely destroyed parenchyma. Sialographic examinations demonstrate that, with progressing disease, regression of acinar dilatations and rarification of the ductal system occur. CONCLUSION: The results show that the spectrum of sialographically recordable lesions in Sjögren's syndrome in children is greater than is described thus far in the literature.

Adolescent↗
PubMed1999

The gene for cherubism maps to chromosome 4p16.

Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM.

Adolescent↗
PubMed1997

[Oral manifestations of autoimmune diseases with sicca symptoms. Comparative studies of patients with primary and secondary Sjögren syndrome].

Sjögren's syndrome is a chronic autoimmune disease which mainly affects exocrine glands. We present a study where 123 patients with Sjögren's syndrome were examined according to their oral symptoms. A high percentage of patients showed mild or moderate inflammation of the oral mucosa. Remarkable is the high number of extracted teeth in older patients with Sjögren's syndrome. Oral ulcerations and erythema were found only in the group with secondary Sjögren's syndrome and systemic lupus erythematosus.

Adult↗
PubMed1997

Cyclosporine as maintenance therapy in patients with severe psoriasis.

BACKGROUND: Low-dose cyclosporine therapy for severe plaque psoriasis is effective. Most side effects can be controlled by patient monitoring, with appropriate dose adjustment or pharmacologic intervention, or both, if indicated. Prevention or reversibility of laboratory and chemical abnormalities may be achieved by discontinuation of therapy after the induction of clearing. However, relapse occurs rapidly on discontinuation. Maintenance therapy with cyclosporine after induction has not been fully evaluated. OBJECTIVE: Our purpose was to compare a regimen of 3.0 mg/kg per day of oral cyclosporine with placebo in maintaining remission or improvement in patients with psoriasis. METHODS: After a 16-week unblinded induction phase in which 181 patients received cyclosporine, 5.0 mg/kg per day (an increase up to 6.0 mg/kg per day and a decrease to 3.0 mg/kg per day were allowed, if required, to achieve efficacy or tolerability, respectively), those patients showing a 70% decrease or more in involved body surface area (BSA) entered the 24-week maintenance phase and were randomly assigned to either placebo, cyclosporine, 1.5 mg/kg per day, or cyclosporine, 3.0 mg/kg per day. Patients were considered to have had a relapse when BSA returned to 50% or more of the prestudy baseline value. Clinical efficacy, adverse effects, and laboratory values were monitored regularly throughout both study phases. RESULTS: During induction, cyclosporine at approximately 5.0 mg/kg per day produced a reduction in BSA of 70% or more in 86% of the patients. During maintenance, the median time to relapse was 6 weeks in both the placebo and cyclosporine 1.5 mg/kg per day groups, but was longer than the 24-week maintenance period in the 3.0 mg/kg per day group (p < 0.001 vs placebo). By the end of the maintenance period, 42% of the patients in the 3.0 mg/kg per day cyclosporine group had a relapse compared with 84% in the placebo group. Changes in laboratory values associated with the higher induction dosage generally exhibited partial or complete return toward mean prestudy baseline values during the maintenance phase, with the greatest degree of normalization in the placebo group. CONCLUSION: Cyclosporine, 3.0 mg/kg per day, adequately and safely maintained 58% of patients with psoriasis for a 6-month period after clearing of their psoriasis with doses of approximately 5.0 mg/kg per day.

Administration, Oral↗
PubMed1997

Risk factors for recurrent VIN. Role of multifocality and grade of disease.

OBJECTIVE: To evaluate possible risk factors for recurrence of vulvar intraepithelial neoplasia (VIN): menopausal status, smoking, method of treatment (local excision with cold knife, CO2 laser vaporization, CO2 laser excision), grade and focality. STUDY DESIGN: At the dysplasia clinic of the Department of Obstetrics and Gynecology, Medical Center, Heinrich Heine University, Dusseldorf, Germany, we treated 102 patients with VIN with a mean follow-up of 3.5 years. VIN was demonstrated for all these patients by histologic examination of biopsies taken under colposcopic control. Follow-up was performed by clinical examination and colposcopy. Statistical evaluation was done by the chi 2 test. RESULTS: VIN recurrence developed in 36.6% of patients. We could not prove any correlation between recurrence of disease and menopausal status, smoking behavior or treatment method used. Recurrent VIN correlated with the grade (P < .001) and focality (P < .05) of the disease. CONCLUSION: In the prediction of possible risk of recurrence of disease, not only the grade of VIN but also the multifocality is important. Treatment should be done very carefully considering the functions of the vulva; therefore, mutilating operations ought to be avoided as much as possible.

Adult↗
PubMed1994

Anti-laminin autoantibodies in collagen vascular diseases: the use of adequate controls in studies of autoimmune responses to laminin.

OBJECTIVES: To determine the significance of anti-laminin antibodies in patients with collagen vascular diseases using a large control population of normal individuals. METHODS: Anti-laminin antibodies of IgG isotypes were determined using an ELISA assay in a population consisting of 73 patients with systemic sclerosis, 10 with urticarial vasculitis, five with leukocytoclastic vasculitis, 13 with giant cell arteritis, and eight with dermatomyositis. Sera from 134 healthy individuals served as controls. RESULTS: Only eight sera in the systemic sclerosis group, one in the leukocytoclastic group and one in the giant cell arteritis group were abnormal. No other sera were abnormal. CONCLUSION: These data contradict previous studies using smaller numbers of controls. The necessity for an adequate control population to define abnormal when comparing immune responses among groups is frequently under-emphasised in rheumatological studies.

Autoantibodies↗
PubMed1993

Bilateral vulvar basal cell carcinomata.

Vulvar basal cell carcinoma is rare, accounting for less than 5% of vulvar neoplasms. There is great variation in the clinical appearance of this neoplasm, which occurs most commonly in older women. Metastasis seldom occurs, but the tumor may extend deeply into local tissues. We report the first case of bilateral vulvar basal cell carcinomata in a 66-year-old woman who had received radiotherapy for urethral carcinoma 35 years earlier. Both tumors were treated with Mohs micrographic surgery and have not recurred after 13 years.

Aged↗
PubMed1992

Tretinoin emollient cream: a new therapy for photodamaged skin.

BACKGROUND: Tretinoin administered topically in 0.1% concentration has been shown to improve the wrinkling and irregular pigmentation of photoaged skin. OBJECTIVE: The purpose of this study was to assess the safety and efficacy of various concentrations of tretinoin in a new emollient cream base in the treatment of photoaged skin. METHODS: Three concentrations of tretinoin (0.05%, 0.01%, and 0.001%) in a new emollient cream formulation were compared with vehicle in a 24-week, double-blind, randomized, multicenter study of 296 subjects with photodamaged facial skin. RESULTS: Tretinoin emollient cream 0.05% gave a significantly better global response to therapy than vehicle (p less than 0.001), with 68% of subjects exhibiting improvement at the end of therapy, compared with 43% of subjects in the vehicle group. An excellent or good response was found in 26% of subjects treated with tretinoin emollient cream 0.05% versus 11% of vehicle-treated subjects. Fine wrinkling, mottled hyperpigmentation, and roughness were more improved in subjects who received tretinoin emollient cream 0.05% than in vehicle-treated subjects (p less than 0.05). No significant difference was found between vehicle and tretinoin emollient cream 0.01% or 0.001%. Histologic examination showed increases in epidermal and granular layer thickness, decreased melanin content and compaction of the stratum corneum after therapy with tretinoin emollient cream 0.05% or 0.01%. Mild to moderate skin reactions, such as erythema, peeling, and burning, were the most common side effects and, although most prevalent in the group using the 0.05% concentration, generally did not limit tretinoin use. CONCLUSION: Tretinoin emollient cream 0.05% appears to be safe and effective in the treatment of photodamaged skin.

Administration, Topical↗