We describe a novel variant of Alzheimer's disease (AD) in a Finnish pedigree with 17 affected individuals of both sexes in three generations. The disease is characterized by progressive dementia which is, in most cases, preceded by spastic paraparesis. Neuropathological investigations revealed numerous, distinct, large, round and eosinophilic plaques as well as neurofibrillary tangles and amyloid angiopathy throughout the cerebral cortex. The predominant plaques resembled cotton wool balls and were immunoreactive for Abeta but lacked a congophilic dense core or marked plaque-related neuritic pathology. Molecular genetic analysis revealed that the disease was caused by a deletion of exon 9 (delta9) of the presenilin 1 (PS1) gene from the mRNA: unlike previous examples of the delta9 variant, the deletion was not caused by a splice acceptor site mutation.
Cystic lesions of the pancreas are relatively common findings at cross-sectional imaging; however, classification of these lesions on the basis of imaging features alone can sometimes be difficult. Complementary evaluation with endoscopic ultrasonography and fine-needle aspiration may be helpful in the diagnosis of these lesions. Cystic lesions of the pancreas may range from benign to malignant and include both primary cystic lesions of the pancreas (including intraductal papillary mucinous neoplasms, mucinous cystic neoplasms, serous cystadenomas, pseudocysts, and true epithelial cysts) and solid neoplasms undergoing cystic degeneration (including neuroendocrine tumors, solid pseudopapillary neoplasms, and, rarely, adenocarcinoma and its variants). Familiarity with the imaging features of these lesions and the basic treatment algorithms is essential for radiologists, as collaboration with gastroenterologists and surgeons is often necessary to obtain an early and accurate diagnosis.
An Australian family with autosomal dominant presenile nonspecific dementia was recently described. The disease results in behavioral changes, usually disinhibition, followed by the onset of dementia accompanied occasionally by parkinsonism. Twenty-eight affected individuals were identified with an age of onset of 39 to 66 years (mean, 53 +/- 8.9 years). We mapped the disease locus to an approximately 26-cM region of chromosome 17q21-22 with a maximum two-point LOD score of 2.87. Affected individuals share a common haplotype between markers D17S783 and D17S808. This region of chromosome 17 contains the loci for several neurodegenerative diseases that lack distinctive pathological features, suggesting that these dementias, collectively referred to as frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), are caused by mutations in the same gene. The entire coding region of five genes, mapped to the FTDP-17 candidate region, were also sequenced. This analysis included the microtubule-associated protein tau that is the major component of the paired helical filaments observed in Alzheimer's disease. No pathogenic mutations were identified in either the tau gene or in any of the other genes analyzed.
A 63-year-old man presented with fever and generalized weakness for 2 days. Computed tomography scan showed an intramural duodenal abscess and a linear radiolucent foreign body penetrating the duodenal wall. Endoscopic drainage was performed. Endoscopic ultrasound showed fluid collection in the second portion of the duodenum. The duodenal lumen was punctured with the creation of stoma using a lumen-apposing metal stent and electrocautery system. The stent was deployed, and the drainage of purulent fluid followed. The foreign body was suspected to be a wire brush bristle. The patient received intravenous antibiotics for 14 days. Follow-up images showed the resolution of the abscess.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.