Search PubMed⌕ Search

Biomedical subjects

H Fabry

Publications and source records attributed to H Fabry.

At least 19 recordsLinked to original sources
PubMed2002

Angiokeratoma corporis diffusum--Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy.

This paper gives a brief historical overview of Fabry disease. First described in 1898 and called angiokeratoma corporis diffusum, a succession of observations and pioneering clinical research over the past 100 years has led to our present understanding of the disease. The major milestones during this time are described, as is the work that resulted in the successful introduction of enzyme replacement therapy.

Fabry Disease↗
PubMed2001

Blind loop syndrome after biliopancreatic diversion: a diagnostic challenge.

BACKGROUND: Biliopancreatic diversion (BPD) according to Scopinaro's method is a safe and effective technique for treatment of morbid obesity. In this operation a side-to-side enteroenterostomy is created 60 cm proximal to the ileocecal valve. Malabsorption of fat and starch is one of the main goals of the BPD. Ingestion of an excess of fat leads to steatorrhea. As a side-effect, malabsorption of iron, calcium and other elements can occur causing anemia and hypocalcemia. The blind loop syndrome gives the same symptoms. METHODS: A lady was admitted with a long history of steatorrhea, anemia and hypocalcemia due to a blind loop syndrome after a BPD. The diagnostic problem in this patient is illustrated. RESULTS: The diagnosis was only made at exploratory laparotomy. CONCLUSION: The blind loop syndrome was then treated with resection of the blind loop and antibiotics.

Adult↗
PubMed1989

[Cryosurgery of basalioma. Results of a retrospective study. Histologic study of the cryogenic lesion].

Cryosurgery is considered an alternative method in the treatment of basal cell carcinomas of the face and usually leads to excellent functional and cosmetic results. This technique can be modified depending on the number of freeze-thaw cycles. According to our experiences (220 cases), a single freeze-thaw cycle is indicated for those basal cell carcinomas which do not go beyond the middle dermis; these cases were characterized by fast wound healing and a very satisfying cosmetic outcome. Invasion of the lower dermis as well as basal cell carcinomas in skin folds require repeated freeze-thaw cycles. The specific mode of cryosurgical treatment, therefore, has to be differentiated depending on the site of the tumor and its depth of invasion.

Basal Cell Carcinoma↗
PubMed1988

Oral inflammatory changes as an initial manifestation of Crohn's disease antedating abdominal diagnosis. Report of a case.

The case of a 14-year-old boy who had oral ulcers with histologic proof of granulomatous disease nine months before the diagnosis of intestinal Crohn's disease is presented. Additional extraintestinal manifestations of this case were cheilitis, anal fissures, and "metastatic" disease to the umbilicus. The diagnosis was established after the onset of abdominal symptoms. All manifestations responded rapidly to systemic prednisone, sulfasalazine, and metronidazole.

Adolescent↗
PubMed1986

[Skin and nail changes in foot deformities].

Hallux valgus leads to lateral deviation of the big toe's longitudinal axis. In consequence, the forces working on the tip of the toe during unrolling of the foot are shifted in medial direction. As a result, subungual clavi, unguis incarnatus, unguis convolutus, or laterally turning onychogryposis like a cork-screw develop.

Foot Dermatoses↗
PubMed1983

A comparative multicentre trial of halometasone ointment and fluocortolone plus fluocortolone caproate ointment in the treatment of psoriasis.

A multicentre, between-patient, comparative trial was carried out by nine dermatologists in the Federal Republic of Germany to compare the efficacy and tolerability of 0.05 halometasone ointment with those of an ointment, containing 0.25% fluocortolone + 0.25% fluocortolone caproate, in patients with psoriasis vulgaris. The evaluable trial population consisted of 182 patients, 115 males and sixty-seven females. Halometasone ointment yielded a higher success rate ('good' to 'very good' results), namely 56.4% than that obtained with the comparative ointment (45.4%). Halometasone ointment also produced a higher cure rate, namely 26.6%, than that reported with the comparative preparation (19.3%). An improvement of one score over the pre-treatment clinical status of the psoriatic lesions reported at the Day 10 visit was significantly higher (p = 0.04), namely 48.9%, with halometasone ointment than that with the comparative preparation (35.2%). The percentages of patients obtaining an early cure, i.e. in less than 30 days, and onset of action were practically identical in both treatment groups. No adverse effects were reported in any of the ninety-four patients treated with halometasone ointment, while unwanted reactions were observed in three of the eighty-eight patients treated with the comparative preparation.

Administration, Topical↗
PubMed1979

Unstable ring Y chromosome in an aspermic male.

A ring Y chromosome was found in a male showing growth retardation and aspermia but normally developed external genitalia. The ring does not display either the characteristic brilliant Y fluorescence or the typical late-replicating heterochromatin.

Adult↗