ABSTRACT
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease causing a wide spectrum of autoimmune dysfunction potentially including diabetes of an autoimmune etiology. We have previously described a pair of discordant APECED siblings and pointed to a possible role of 5'insulin variable number of tandem repeats (VNTR) locus IDDM2 in the appearance of diabetes within this disease. In vitro studies have previously suggested that class I VNTR alleles were associated with decreased fetal thymic insulin expression. We genotyped the 5'INS VNTR locus and several flanking 11p15.5 markers in 50 Finnish APECED subjects and explored the possible contribution of IDDM2 in the development of diabetes. The shorter 5'INS VNTR class I alleles (<35 repeats) were more prevalent in the diabetic Finnish APECED subjects than in non-diabetic APECED subjects. Logistic regression analysis revealed that having 1 short (<35) VNTR allele did not increase the risk of developing diabetes (95% CI 0.6-27.0), whereas having 2 short alleles conferred a 43.5-fold increased risk (95% CI 3.0-634.6). We conclude that short 5'INS VNTR class I alleles play a role in susceptibility to autoimmune diabetes in the context of APECED.
Subject(s)
Diabetes Mellitus, Type 1/genetics , Insulin/genetics , Minisatellite Repeats/genetics , Polyendocrinopathies, Autoimmune/genetics , Adult , Alleles , Cohort Studies , Diabetes Mellitus, Type 1/immunology , Diabetes Mellitus, Type 2/genetics , Disease Susceptibility , Female , Genotype , Humans , Insulin/biosynthesis , Insulin/immunology , Male , Retrospective Studies , Risk , White People/geneticsABSTRACT
A 65-year old patient is presented with an ultrasound showing multiple cysts in liver and both kidneys. Computed tomography scan (CT-scan) showed a cyst in the right liver lobe with a largest diameter of 12 cm, suspicious for cystadenocarcinoma. Further staging showed no extrahepatic metastasis. Considering possible malignancy, aspiration of the cyst was not an option because of the risk for ent-metastasis. Resection of the tumour was considered as the best treatment. Peroperatively the cyst was localized with ultrasound, after which an extended right hepatectomy was performed. No peroperative complications occurred. Histological diagnosis was a cyst, originating in dilated von Meyenburg complexes. No signs of a biliary cystadenoma or malignant deformation were observed. A CT-scan 1 year postoperatively showed some other small cysts in the left liver lobe, the patient was free of any complaints. The differential diagnosis in cases of asymptomatic liver cysts will be discussed.
Subject(s)
Cysts/pathology , Liver Diseases/pathology , Aged , Cystadenocarcinoma/diagnosis , Cystadenocarcinoma/pathology , Cystadenoma/diagnosis , Cystadenoma/pathology , Cysts/diagnosis , Cysts/surgery , Female , Hepatectomy , Humans , Liver Diseases/diagnosis , Liver Diseases/surgery , Liver Neoplasms/diagnosis , Liver Neoplasms/pathologyABSTRACT
Two patients, a 54-year-old man and a 51-year-old woman, presented with abdominal pain, vomiting and diarrhoea; these symptoms developed 9 and 15 hours, respectively, after consumption of soup from mushrooms that they had picked themselves. As a result of these events, a third patient, a 55-year-old woman with diarrhoea who had also eaten the soup, also presented herself. The first patient recognised deathcap or death angel mushrooms (Amanita phalloides) on a photograph. All three patients were treated for amatoxin poisoning with a combination of high-dose penicillin G, silibinin and acetylcysteine intravenously. The poisoning was later confirmed by the results of urinalysis. The patients were discharged in good condition 8 days later.
Subject(s)
Amanitins/poisoning , Mushroom Poisoning/diagnosis , Acetylcysteine/therapeutic use , Amanita , Antioxidants/therapeutic use , Drug Therapy, Combination , Female , Humans , Male , Middle Aged , Mushroom Poisoning/drug therapy , Penicillin G/therapeutic use , Silybin , Silymarin/therapeutic use , Treatment Outcome , UrinalysisABSTRACT
In a 66-year-old woman with pruritus, jaundice, dark-brown urine and light-colored faeces obstructive jaundice was diagnosed. Despite extensive investigations, it was not possible to clearly distinguish if varicosis or cholangiocarcinoma was the cause of the obstruction. During laparotomy the right lobe of the liver was seen to be greatly underdeveloped. The portal system showed a varicose deformation with compression of the bile ducts and portal hypertension. The right lobe of the liver was removed and the portal hypertension was treated by creating a shunt between the hepatic portal vein and the right ovarian vein. The jaundice disappeared and the patient recovered. Histological investigation showed atrophy, secondary biliary fibrosis, cirrhosis and a biliary cystadenoma. There were no signs of malignancy. The varicose deformation can be considered to be a result of the portal hypertension caused by fibrosis and cirrhosis with possibly a history of thrombosis and insufficient recanalization.
