Search PubMed⌕ Search

Biomedical subjects

U Bühler

Publications and source records attributed to U Bühler.

18 recordsLinked to original sources
PubMed1993

Pili trianguli et canaliculi: a distinctive hair shaft defect leading to uncombable hair.

Uncombable hair syndrome refers to a clinical disorder characterized by scalp hairs arranged in bundles in all directions that resist to brush and comb. Several entities may lead to spun-glass hair. As a rule the syndrome becomes obvious during the first years of life. The hair is normal in quantity, and increased fragility is not a common feature. The hair is often dry with silvery blond color. Under the light microscope the hairs may appear normal. Scanning electron microscopy shows a characteristic triangular, kidney- or heat-shaped diameter with typical longitudinal canalicular deformation. We present a 9-year-old girl with the typical clinical features of pili trianguli et canaliculi. Investigation by scanning electron microscopy confirmed the diagnosis. In addition the girl had enamel defects of the teeth and nail abnormalities that classify for a subtype of ectodermal dysplasia.

Child↗
PubMed1988

The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature.

A boy with the pseudo-hydrocephalic progeroid syndrome (McKusic 26409) is presented and compared to five previously reported children. The boy presented with major skeletal abnormalities, which receded during the first few months of life. Special investigations like studies on collagen, electron microscopy, and growth studies of fibroblasts did not contribute to our knowledge of the pathogenesis of this rare disease.

Collagen↗
PubMed1978

Cyproteroneacetate and ACTH adrenal function.

Cyproteroneacetate, an antiandrogenic and gonadotropin-inhibiting steroid, has a marked ACTH suppressive effect. In rats, adrenal atrophy and severe impairment of ACTH and corticosterone responses to stress are induced by a 10-day treatment with 3-0.75 mg/100 g BW cyproteroneacetate/day. Two weeks after cessation of treatment, the ACTH adrenal system has not yet recovered. The ACTH suppression is evident 6 h after a single dose. In 25 human volunteers, a single dose of 200 mg cyproteroneacetate impaired their ACTH and 11-deoxycorticosteroid response to 1 g metyrapone. A similar impairment was seen in 12 women on sequential treatment with cyproteroneacetate and ethinyl estradiol. In 4 out of 11 children treated for precocious puberty, random plasma ACTH and cortisol measurements, cortisol responses to ACTH, and ACTH and cortisol responses to insulin-induced hypoglycemia revealed severely impaired ACTH adrenal function. Questionable impairment was found in 2 out of 11 and normal function in 5 out of 11 children. In 10 patients with endogenous elevated plasma ACTH, 10 days of treatment with cyproteroneacetate, in addition to the steroid substitution, diminished the morning plasma ACTH levels. It is concluded that cyproteroneactate has a pronounced ACTH-suppressive effect. The individual susceptibility of treated patients varies and the effect is dose dependent. A cortisol-like effect must be assumed, because cyproteroneacetate-treated animals and patients under therapy can withstand stress situations without signs of adrenal insufficiency. ACTH adrenal function must, however, be closely watched in treated patients and steroid cover must be considered in conditions of stress. Great care has to be taken when the drug, with its own "stress-protective" effect, is withdrawn. The recovery of ACTH adrenal function may take several months.

Adrenal Cortex↗