Observed rupture of unruptured intracranial aneurysms.

To study the aneurysms where pre and post-rupture imaging was available to determine the impact of rupture on morphology and size of the aneurysm. A retrospective case series where all cases of ruptured aneurysms over a 5-year period were evaluated and cases identified where pre and post rupture imaging was available. These were then studied in detail.

CT scan exposure in children with ventriculo-peritoneal shunts: single centre experience and review of the literature.

Purpose: A computed tomography (CT) scan in childhood is associated with a greater incidence of brain cancer. CT scans are used in patients with ventriculo-peritoneal (VP) shunts in whom shunt dysfunction is suspected. We wanted to assess the CT scan exposure in a cohort of children with VP shunts and attempt to quantify their radiation exposure.

Neurofibromatosis type 1 and male breast cancer: emerging risk factor?

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the appearance of cafe au lait spots, neurofibromas and Lisch nodules. There is an established link between NF1 and the development of breast cancer in women; however, due to the rarity of both NF1 and male breast cancer, the same link has yet to be elucidated in men. The concurrent presentation of NF1 and male breast cancer is a very rare phenomenon with only a handful of case descriptions in the literature.

Vitamin E in aging persons with Down syndrome: A randomized, placebo-controlled clinical trial.

Objective: To determine whether vitamin E would slow the progression of cognitive deterioration and dementia in aging persons with Down syndrome (DS).

Methods: A randomized, double-blind controlled clinical trial was conducted at 21 clinical sites, and researchers trained in research procedures recruited adults with DS older than 50 years to participate. Participants were randomly assigned to receive 1,000 IU of vitamin E orally twice daily for 3 years or identical placebo.

Snx3 regulates recycling of the transferrin receptor and iron assimilation.

Sorting of endocytic ligands and receptors is critical for diverse cellular processes. The physiological significance of endosomal sorting proteins in vertebrates, however, remains largely unknown. Here we report that sorting nexin 3 (Snx3) facilitates the recycling of transferrin receptor (Tfrc) and thus is required for the proper delivery of iron to erythroid progenitors.

Teleost growth factor independence (gfi) genes differentially regulate successive waves of hematopoiesis.

Growth Factor Independence (Gfi) transcription factors play essential roles in hematopoiesis, differentially activating and repressing transcriptional programs required for hematopoietic stem/progenitor cell (HSPC) development and lineage specification. In mammals, Gfi1a regulates hematopoietic stem cells (HSC), myeloid and lymphoid populations, while its paralog, Gfi1b, regulates HSC, megakaryocyte and erythroid development. In zebrafish, gfi1aa is essential for primitive hematopoiesis; however, little is known about the role of gfi1aa in definitive hematopoiesis or about additional gfi factors in zebrafish.

What can we learn from study of Alzheimer's disease in patients with Down syndrome for early-onset Alzheimer's disease in the general population?

The clinical and scientific study of dementia in adults with Down syndrome led to the development of the amyloid hypothesis as a fundamental concept in Alzheimer's disease pathogenesis. The journey started with the discovery of the structure and metabolic processing of β-amyloid brain deposits associated with Alzheimer's dementia in adults with Down syndrome, and then the prediction and confirmation of the amyloid precursor protein gene on chromosome 21. The processes and genes responsible for tau hyperphosphorylation contributing to toxic brain deposits were additionally identified.

The incidence of deep brain stimulator hardware infection: the effect of change in antibiotic prophylaxis regimen and review of the literature.

The complication of hardware infection related to deep brain stimulator implantation (or revision) varies between 0 and 15.2% in the literature. However, no national guidelines exist at present to define an average or acceptable rate of infection associated with, nor the preferred antibiotic prophylaxis required for, this procedure.

Link between DYRK1A overexpression and several-fold enhancement of neurofibrillary degeneration with 3-repeat tau protein in Down syndrome.

Triplication of chromosome 21 in Down syndrome (DS) results in overexpression of the minibrain kinase/dual-specificity tyrosine phosphorylated and regulated kinase 1A gene (DYRK1A). DYRK1A phosphorylates cytoplasmic tau protein and appears in intraneuronal neurofibrillary tangles (NFTs). We have previously shown significantly more DYRK1A-positive NFTs in DS brains than in sporadic Alzheimer disease (AD) brains.

The relationship of plasma Abeta levels to dementia in aging individuals with Down syndrome.

To study the relationship between plasma levels of amyloid beta (Abeta) peptides and dementia in aging individuals with Down syndrome, we investigated the relationship among plasma Abeta, apolipoprotein E genotype and cognitive and clinical factors using baseline specimens form participants in an ongoing clinical trial in individuals with Down syndrome 50 years of age and older. Because of substantial skew in the distribution of peptide levels, analyses used log transformations of the data. The ratio of Abeta42 to Abeta40 was associated with the presence of dementia (P=0.

Acute appendicitis in the setting of Clostridium difficile colitis: case report and review of the literature.

A 72-year-old man was hospitalized for exacerbation of chronic obstructive pulmonary disease and was treated with oral prednisone and 7 days of moxifloxacin. Five days after completing the antibiotic course, he developed watery diarrhea and diffuse, crampy abdominal pain. On presentation he was afebrile, and abdominal examination revealed diffuse tenderness without peritoneal signs.

Increased serum neopterin levels in adults with Down syndrome.

We quantitated serum neopterin levels in Down syndrome (DS), normal controls, Alzheimer's disease, multiple sclerosis and other neurological diseases. We then analyzed the relationships with age, sex, apolipoprotein E (Apo E) phenotype, and amyloid beta protein 1-40 (Abeta40) and 1-42 (Abeta42) levels. Neopterin levels were higher in DS than all other groups.

Dollars and sense: attributing value to a level I trauma center in economic terms.

Background: Reliable, accurate, program-specific data for hospital product lines are often difficult to obtain. The purpose of this study was to determine the impact that trauma center status has on hospital net income when compared with other traditional hospital product lines and services.

Methods: Over a 3-year period, financial data were collected for 16 payor classes: 8 major payors for all injury diagnoses, in-patient and out-patient.

Relation between apolipoprotein E genotype, hepatitis B virus status, and thyroid status in a sample of older persons with Down syndrome.

Dementia of the Alzheimer type (DAT) is common in older persons with Down syndrome (DS). There are three common alleles of the apolipoprotein E (ApoE) gene (Sigma 2, Sigma 3, and Sigma 4) resulting in three different isoforms (E2, E3, and E4) and six different genotypes (2,2; 2,3; 2,4; 3,3; 3,4; and 4,4). Sigma 4 is a risk factor for DAT whereas Sigma 2 appears prophylactic.

Plasma amyloid beta protein 1-42 levels are increased in old Down Syndrome but not in young Down Syndrome.

Plasma amyloid beta protein 1-40 (Abeta40) and Abeta42 levels were quantitated from 28 young Down syndrome (DS) (20-40 years old), 28 age-matched controls, 32 old DS (41-65 years old) and 32 age-matched controls in a sandwich enzyme-linked immunosorbent assay. Abeta40 levels were higher in young DS and old DS than controls. Abeta42 levels in young DS and controls were similar, however Abeta42 levels were higher in old DS than controls or young DS.