Autoptic aspects in a case of autosomal dominant polycystic kidney disease.

Background: Polycystic kidney disease is a cystic genetic disease. There are two forms: an autosomal dominant one, more common and typical of adults, and an autosomal recessive one, rarer and present in childhood. The autosomal dominant form is caused by genetic mutations of the PKD1 gene in 85% of cases and of PKD2 in 10-15% of cases. Case Report: We reported a case of 56-year-old woman with ADPKD, who had a kidney transplant and who was hospitalized for respiratory failure from Covid 19 disease. She was intubated, sedated and dialyzed, treated with antibiotics, immunosuppressants, diuretics and heparin. CT scan of the abdomen showed multiple cysts of various sizes in the liver and multiple cysts in the kidneys. The patient died after 20 days because she was unresponsive to therapy. The autopsy showed milky ascitic fluid in the abdomen, massive gastric haemor-rhage, intestinal fungal plaques, hepatic and renal polycystosis. The kidneys measured a total of 27 cm with a total weight of about 9 kg. The liver parenchyma appeared cavernous with multiple cysts. The kidney cysts contained bloody liquid. Conclusions: The case demonstrates how important it is in these subjects to evaluate not only the kidneys but also the liver which could present polycystosis and cause liver failure, affecting the severity of the pathology and death. This data is important to emphasize in the clinical management of these patients a close monitoring of liver function also from a preventative perspective in life.

A forensic case of erosive cystitis and septic pulmonary embolism: is there a correlation?

Septic pulmonary embolism (SPE) is an uncommon disease in which a microorganism- containing thrombus causes an inflammatory reaction and a mechanical obstruction in the vascular system of the lungs. Usually it is associated with tricuspid valve vegetation, septic thrombophlebitis or infected venous catheters. We present a rare and fatal case of massive septic pulmonary thromboembolism occurred in a diabetic woman, who complained in previous days dyspnoea, abdominal pain and nausea. Autopsy findings showed evidence of an erosive cystitis, while lungs examination showed total occlusion of pulmonary circulation system due to thrombo-embolic clots. In literature cases report about an association between septic pulmonary thromboembolism and erosive cystitis haven't been reported. So, we here show the first reported fatal case of a septic pulmonary thromboembolism as a lethal evolution of an erosive cystitis.

Avian endogenous retrovirus EAV-HP shares regions of identity with avian leukosis virus subgroup J and the avian retrotransposon ART-CH.

The existence of novel endogenous retrovirus elements in the chicken genome, designated EAV-HP, with close sequence identity to the env gene of avian leukosis virus (ALV) subgroup J has been reported (L. M. Smith, A. A. Toye, K. Howes, N. Bumstead, L. N. Payne, and K. Venugopal, J. Gen. Virol. 80:261-268, 1999). To resolve the genome structure of these retroviral elements, we have determined the complete sequence of two proviral clones of EAV-HP from a line N chicken genomic DNA yeast artificial chromosome library and from a meat-type chicken line 21 lambda library. The EAV-HP sequences from the two lines were 98% identical and had a typical provirus structure. The two EAV-HP clones showed identical large deletions spanning part of the gag, the entire pol, and part of the env genes. The env region of the EAV-HP clones was 97% identical to the env sequence of HPRS-103, the prototype subgroup J ALV. The 5' region of EAV-HP comprising the R and U5 regions of the long terminal repeat (LTR), the untranslated leader, and the 5' end of the putative gag region were 97% identical to the avian retrotransposon sequence, ART-CH. The remaining gag sequence shared less than 60% identity with other ALV sequences. The U3 region of the LTR was distinct from those of other retroviruses but contained some of the conserved motifs required for functioning as a promoter. To examine the ability of this endogenous retroviral LTR to function as a transcriptional promoter, the EAV-HP and HPRS-103 LTR U3 regions were compared in a luciferase reporter gene assay. The low luciferase activity detected with the EAV-HP LTR U3 constructs, at levels close to those observed for a control vector lacking the promoter or enhancer elements, suggested that these elements function as a weak promoter, possibly accounting for their low expression levels in chicken embryos.