Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis.

OBJECTIVE: Though the liver is frequently affected in myotonic dystrophy type 1 and 2 (DM1, DM2), non-alcoholic and non-hepatitic liver cirrhosis have not been reported as a manifestation of DM2. CLINICAL PRESENTATION AND INTERVENTION: In a 52-year-old Caucasian male with DM2, the disease manifested as myopathy, mild myotonia, cataract, diabetes, erectile dysfunction, gastrointestinal dysmotility, dysarthria, mild myocardial thickening and non-alcoholic and non-hepatitic liver cirrhosis with portal hypertension and oesophageal varicosities since age 48 years. His 69-year-old sister, who carried a CCTG expansion of >300 in intron 1 of the CNBP/ZNF9 gene, also manifested in the liver with hyperbilirubinaemia, hepatopathy and hyperlipidaemia since age 48 years. Liver cirrhosis in the index patient was complicated by hyperamonemia, hepatic encephalopathy and flapping tremor. CONCLUSION: Rarely, DM2 may also manifest in the liver with elevated transaminases, steatosis or non-alcoholic, non-hepatitic liver cirrhosis with its common complications. In patients with cryptogenic non-alcoholic, non-hepatitic liver cirrhosis or cataract before age 50 years, DM2 should be excluded.

Effects of hypolipidaemics cetaben and clofibrate on mitochondrial and peroxisomal enzymes of rat liver.

Clofibrate or cetaben was administered to male rats for 10 days. Peroxisomal and mitochondrial enzymes were assayed in liver subcellular fractions. Clofibrate affected the specific activities of both mitochondrial enzymes (glycerol-3-phosphate dehydrogenase and nicotinamide-linked isocitrate dehydrogenase) and peroxisomal enzymes (fatty acyl-CoA oxidase, glycerone phosphate acyltransferase, urate oxidase, and D-amino-acid oxidase). In contrast, cetaben raised only the peroxisomal enzymes, acyl-CoA oxidase, glycerone-phosphate acyltransferase, D-amino-acid oxidase, catalase, and urate oxidase. Thus, the hypolipidaemic activity of these drugs may be exclusively related to stimulated peroxisomal functioning, while mitochondria play only a minor role.

A new mode of treatment of human papilloma virus associated anogenital lesions using a nonsteroid estrogen analogue.

Human papilloma virus (HPV)-induced condylomata acuminata in both sexes, as well as cervical dysplasias were treated locally with an ointment or a cream containing 25 mg clomiphene citrate per gram for a fortnight. The DNA of HPV 6, 11, HPV 16, 18, and HPV 31, 35, 51 was monitored pre- and post-therapeutically using an in situ hybridization assay. The therapeutic response to the drug was demonstrated by the disappearance of condylomata acuminata (100%), HPV DNA in cervical dysplasia (up to 80%), and penile genital warts (75%). Under this therapeutic regimen 78% of all cases treated became negative for the probed HPV. The pharmacological action of the drug was diminished in HPV 16, 18 positive lesions. Clomiphene is shown to be an effective anti-HPV drug.

[MRI-assisted brachytherapy of nonresectable liver metastases. Preliminary technical and clinical experiences]. / MR-gestützte Brachytherapie nichtresektabler Lebermetastasen. Vorläufige technische und klinische Erfahrungen.

PURPOSE: To evaluate the feasibility and efficacy of MR-guided interstitial brachytherapy of non-resectable liver metastasis. METHODS: Liver metastases (0.8-5.2 cm in diameter) were treated during a prospective phase I/II study using an open 0.2 Tesla MR system (Magnetom Open Viva, Siemens, Erlangen). MR-compatible brachytherapy applicators were placed percutaneously under MR-guidance in an open 0.2 Tesla MR system (Magnetom Open Viva, Siemens, Erlangen) using fast T1-weighted sequences. Pretreatment and follow-up studies were performed using a 1.5 Tesla MR system. RESULTS: Preliminary results of an unpublished prospective study are discussed exemplary on 2 selected patients. The median procedure time was 4.9 h. No major complications were observed and late effects were acceptable. In large symptomatic metastases only a temporary relief of pain was achieved. In smaller metastases (DM 3 cm) a tumor control was observed. CONCLUSION: MR-guided brachytherapy is feasible and has the potential to ablate liver metastases with diameter of less than 3 cm. Further developments are necessary.