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Biomedical subjects

C Bisgaard

Publications and source records attributed to C Bisgaard.

14 recordsLinked to original sources

Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.

Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients with CMT type 1, using four different techniques, and identified a de novo duplication in a sporadic case. Analysis of the fully informative pVAW409R3a alleles in this family showed the duplication to be of paternal origin.

Adult↗

Collagenous colitis: a prospective trial of prednisolone in six patients.

In a prospective study, the clinicopathological effect of prednisolone was evaluated in six patients with collagenous colitis. Prednisolone was associated with a significant decrease in stool frequency. However, the effect was transitory, since the diarrhoea recurred when prednisolone treatment was discontinued. There was a trend toward a diminished inflammatory response in the post-treatment biopsies, but the thickness of the collagen band remained unchanged, except in one patient. Until the results of further studies are available, we recommend that treatment with prednisolone be restricted to periods of acute diarrhoeal episodes.

Adult↗

Iatrogenic cutaneous implantation metastasis from exfoliated rectal adenocarcinoma cells. Case report.

A perianal cutaneous metastasis was found 3 months after radical resection of rectal carcinoma in a 79-year-old woman. Histologic examination established derivation of the metastasis from the rectal tumor, thereby strongly suggesting that exfoliated carcinoma cells had been perianally implanted by means of the pursestring suture applied for the perioperative washout procedure with chlorhexidine/cetrimide.

Adenocarcinoma↗

Solid and papillary epithelial neoplasm of the pancreas presenting as a traumatic cyst. Case report.

A 16-year-old girl presented with a left-sided abdominal mass following blunt trauma. Clinically and ultrasonographically a pseudocyst of the pancreas was suspected. Computed tomography demonstrated a moderately vascularized tumour mass in the pancreatic tail, with a central cystic space. Distal pancreatectomy was subsequently performed. Histologic examination revealed a solid and papillary epithelial neoplasm of the pancreas. This is a well-defined clinicopathologic entity, mostly found in young women. Histologic evidence of aggressive behaviour is sometimes seen, and was found in the present case. The prognosis after surgical removal is good, however, which emphasizes the importance of recognizing this rare tumour.

Abdominal Injuries↗

Recurrent carcinoma after low anterior resection of the rectum using the EEA staple gun.

In a consecutive series of 35 patients with colorectal carcinoma, low anterior rectal resection was performed, using the EEA staple gun. After a median observation time of 28 months, 7 (20%) of the patients were found to have local recurrence of cancer. The importance of tumor growth into the nerves and/or vessels was emphasized by the significantly higher incidence of local recurrence and/or distant metastases in such patients (10/12) than in patients without this involvement (6/23). An apparently increased incidence of local recurrence after stapled rectal anastomosis and possible mechanisms are discussed.

Adult↗

Spontaneous rupture of the diaphragm.

Spontaneous rupture of the diaphragm is rare. A case is presented in which spontaneous rupture of the left hemidiaphragm occurred as a result of physical exercise 4 months before admission to hospital. The patient, a 42-year-old woman, underwent transabdominal repair with uncomplicated postoperative course. The clinical manifestations, diagnosis and treatment of spontaneous diaphragmatic rupture are reviewed against the background of this case and the total of 12 cases in the available literature. All but one of the ruptures were left-sided. The importance of keeping this condition in mind in differential diagnosis is underlined by the fatal outcome in 2 of the known 13 cases.

Adult↗

Solitary renal metastasis 23 years after extirpation of a bronchial adenoid cystic carcinoma.

In a 47-year-old man left nephrectomy was performed in 1982 because of a solitary metastasis arising from a bronchial adenoid cystic carcinoma which had been extirpated 23 years previously, in 1959. Whole-body CT scanning one year after nephrectomy disclosed no local recurrence or further metastasis. The importance of long follow-up after surgery for adenoid cystic carcinoma is emphasized.

Bronchial Neoplasms↗