Martinezkerr1903

Alzheimer's disease is the most frequent diagnosis of neurodegenerative dementia with early (≤65 years) and late (>65 years) onset ages in familial and sporadic patients. Causal mutations in 3 autosomal dominant Alzheimer genes, i.e. amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2), explain only 5%-10% of early-onset patients leaving the majority of patients genetically unresolved. To discover potential missing genetics, we used whole genome sequencing data of 17 early-onset patients with well-documented clinical diagnosis of Alzheimer's disease. In the discovery group, the mean onset age was 55.71 ± 6.83 years (range 37-65). Six patients had a brain autopsy and neuropathology confirmed Alzheimer's disease. Analysis of the genetic data identified in one patient a homozygous p.V366M missense mutation in the Von Willebrand factor A domain containing 2 gene (VWA2). Resequencing of the VWA2 coding region in an Alzheimer's disease patient cohort from Flanders-Belgium (n = 1148), including 152 early and 996 late onset patients, identified additional homozygous and compound heterozygous missense mutations in 1 early and 3 late-onset patients. Allele-sharing analysis identified common haplotypes among the compound heterozygous VWA2 mutation carriers, suggesting shared ancestors. Overall, we identified 5 patient carriers of homozygous or compound heterozygous missense mutations (5/1165; 0.43 %), 2 in early (2/169; 1.18 %) and 3 in late-onset (3/996; 0.30 %) patients. The frequencies of the homozygous and compound heterozygous missense mutations in patients are higher than expected from the frequencies calculated based on their combined single alleles. None of the homozygous/compound heterozygous missense mutation carriers had a family history of autosomal dominant Alzheimer's disease. Our findings suggest that homozygous and compound heterozygous missense mutations in VWA2 might contribute to the risk of Alzheimer's disease in sporadic patients.

On-line discussion boards (DBs) are used by patients and family members to pose questions and share experiences with a broader community. Systematic analysis of the text posted to DBs about congenital upper-extremity (UE) differences may allow physicians to identify and address patients' questions and concerns better.

We used Google and Yahoo! Internet search engines to identify on-line DBs pertaining to congenital UE differences. Posts written between January 1, 2009 and January 1, 2019 were collected and analyzed. Each on-line post was coded by 2 researchers using 3 rounds of grounded theory open coding, axial coding, and selective coding. This allowed comprehensive, central themes of the DBs to emerge.

We collected 521 posts and analyzed 420 posts from 152 threads. A total of 163 unique users contributed to posts. Parents of a child with a congenital UE difference accounted for the majority of users (65%), most of which were postnatal (91%). Of posts written by patients, 48% expressed negative emotiorove their care of patients with congenital UE differences by better understanding the needs of patients and their families that may not be elucidated in a traditional patient encounter.

Treating surgeons can improve their care of patients with congenital UE differences by better understanding the needs of patients and their families that may not be elucidated in a traditional patient encounter.

In ST-segment elevation myocardial infarction (STEMI) the benefit of dual antiplatelet therapy is unequivocal, but the optimal time to administer the loading dose (LD) of a P2Y

inhibitor is the subject of debate and disagreement. The main aim of this study was characterize current practice in Portugal and to assess the prognostic impact of P2Y

inhibitor LD administration strategy, before versus during or after primary percutaneous coronary intervention (PCI).

This multicenter retrospective study based on the Portuguese National Registry on Acute Coronary Syndromes included patients with STEMI and PCI performed between October 1, 2010 and September 19, 2017. Two groups were established LD before PCI (LD-PRE) and LD during or after PCI (LD-CATH).

A total of 4123 patients were included, 66.3% in the LD-PRE group and 32.4% in the LD-CATH group. Hexa-D-arginine nmr Prehospital use of a P2Y

inhibitor was a predictor of the composite bleeding endpoint (major bleeding, need for transfusion or hemoglobin [Hb] drop >2g/dl), Hb drop >2g/dl and reinfarction. There were no differences between groups in major adverse events (MAE) (in-hospital mortality, reinfarction and stroke) or in-hospital mortality.

Prehospital use of a P2Y

inhibitor was associated with an increased risk of bleeding, predicting the composite bleeding outcome and Hb drop >2g/dl, with no differences in mortality or MAE, calling into question the benefit of this strategy.

2g/dl, with no differences in mortality or MAE, calling into question the benefit of this strategy.

The purpose of this study was to access the contribution of vertigo/dizziness-related patients' interview and examinations during short-term hospitalization in determining the accurate final diagnosis of vertigo/dizziness of unknown origin.

We reviewed 1905 successive vertigo/dizziness patients at the Vertigo/Dizziness Center of Nara Medical University, who were introduced from general otolaryngologists at outpatient town clinic from May 2014 to April 2020. However, 244 patients were diagnosed with vertigo/dizziness of unknown origin (244/1905; 12.8%). Of these patients, 240 were hospitalized and underwent various examinations, including caloric test (C-test), video head impulse test (vHIT), vestibular evoked cervical myogenic potentials (cVEMP), subjective visual vertical (SVV), inner ear magnetic resonance imaging (ieMRI), Schellong test (S-test), and self-rating questionnaires of depression score (SDS).

According to the examination data, together with interviewed vertigo/dizziness characteristics andelpful for future general otolaryngologists at outpatient town clinic to better attain an accurate final diagnosis.

The answer lists for vertigo/dizziness of unknown origin obtained in the present study may be helpful for future general otolaryngologists at outpatient town clinic to better attain an accurate final diagnosis.