Relationship between physical activity and biomarkers of pathology and neuroinflammation in preclinical autosomal-dominant Alzheimer's disease.

Objective: Physical activity (PA) has been linked to reduced Alzheimer's disease (AD) risk. However, less is known about its effects in the AD preclinical stage. We aimed to investigate whether greater PA was associated with lower plasma biomarkers of AD pathology, neural injury, reactive astrocytes, and better cognition in individuals with autosomal-dominant AD due to the presenilin-1 E280A mutation who are virtually guaranteed to develop dementia.

Sleep Apnea Risk, Subjective Cognitive Decline, and Cognitive Performance: Findings from the Boston Latino Aging Study.

Introduction: Obstructive sleep apnea (OSA) is associated with subjective cognitive decline (SCD) and increased risk of cognitive decline and dementia. These relations are understudied in ethnoracially diverse groups. We examined associations among self-reported OSA risk, SCD, and cognitive performance in community-dwelling older Latinos.

Impact of APOE ε4 and ε2 on plasma neurofilament light chain and cognition in autosomal dominant Alzheimer's disease.

Background: Apolipoprotein E (APOE) genotypes have been suggested to influence cognitive impairment and clinical onset in presenilin-1 (PSEN1) E280A carriers for autosomal dominant Alzheimer's disease (ADAD). Less is known about their impact on the trajectory of biomarker changes. Neurofilament light chain (NfL), a marker of neurodegeneration, begins to accumulate in plasma about 20 years prior to the clinical onset of ADAD.

Connectome-based predictive modeling of brain pathology and cognition in Autosomal Dominant Alzheimer's Disease.

Introduction: Autosomal Dominant Alzheimer's Disease (ADAD) through genetic mutations can result in near complete expression of the disease. Tracking AD pathology development in an ADAD cohort of Presenilin-1 ( E280A carriers' mutation has allowed us to observe incipient tau tangles accumulation as early as 6 years prior to symptom onset.

Methods: Resting-state functional Magnetic Resonance Imaging (fMRI) and Positron-Emission Tomography (PET) scans were acquired in a group of carriers (n=32) and non-carrier family members (n=35).

Physical Activity and Neurocognitive Symptoms in Older Adults During COVID-19 Pandemic.

Examine whether physical activity (PA) changes during the COVID-19 pandemic were related to subjective cognitive decline (SCD), depression, and anxiety in older adults and whether these varied by sociodemographic variables. 301 older adults completed an online survey between May and October 2020 and 3 months later, including self-report questionnaires of SCD, depression, and anxiety. PA changes were determined with a question.

Change in Depressive Symptoms and Longitudinal Regional Amyloid Accumulation in Unimpaired Older Adults.

Importance: Depressive symptoms in older adults may be a harbinger of Alzheimer disease (AD), even in preclinical stages. It is unclear whether worsening depressive symptoms are manifestations of regional distributions of core AD pathology (amyloid) and whether cognitive changes affect this relationship.

Objective: To evaluate whether increasing depressive symptoms are associated with amyloid accumulation in brain regions important for emotional regulation and whether those associations vary by cognitive performance.

Cognitive Outcomes in Autosomal-Dominant Alzheimer's Disease: A Comprehensive Review from a Colombian Kindred with the Presenilin-1 E280A Mutation.

Background: The largest identified kindred worldwide with a single mutation causing autosomal-dominant Alzheimer's disease (ADAD) is a family from Antioquia, Colombia, carrying the Presenilin-1 (PSEN1) E280A (Paisa) mutation. The majority of mutation carriers develop dementia, typically commencing in their late 30 s, with a median onset age of 49 years. Cognitive decline is a hallmark feature.

First Worldwide Multicentric Series of Mini-Ecirs in Children: Outcomes from Two Tertiary Endourology Centers.

Endoscopic combined intrarenal surgery (ECIRS) is a combination of both retrograde and antegrade approaches for treatment of large or complex renal stones in one procedure, that are currently being treated with multiple tracts or sessions of percutaneous nephrolithotomy, increasing the complications. The aim of our study is to describe the clinical outcomes of Mini-ECIRS in a pediatric population. A retrospective study was performed in pediatric patients with lithiasis disease treated with mini-ECIRS between 2006 and 2023 in 2 referral centers in Europe.

Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.

Introduction: This study investigates primary lateral sclerosis (PLS) as a rare manifestation of the presenilin 1 (PSEN1) NM_000021 c.851C > T p.Pro284Leu variant in three siblings of a Colombian family, outlining its clinical and neuropathological features and their relationship to Alzheimer's disease (AD).

Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease.

Background: Variants in and (encoding apolipoprotein E and presenilin 1, respectively) alter the risk of Alzheimer's disease. We previously reported a delay of cognitive impairment in a person with autosomal dominant Alzheimer's disease caused by the variant who also had two copies of the apolipoprotein E3 Christchurch variant ( ). Heterozygosity for the variant may influence the age at which the onset of cognitive impairment occurs.

Christchurch modulates β-catenin/Wnt signaling in iPS cell-derived cerebral organoids from Alzheimer's cases.

A patient with the E280A mutation and homozygous for Christchurch () displayed extreme resistance to Alzheimer's disease (AD) cognitive decline and tauopathy, despite having a high amyloid burden. To further investigate the differences in biological processes attributed to , we generated induced pluripotent stem (iPS) cell-derived cerebral organoids from this resistant case and a non-protected control, using CRISPR/Cas9 gene editing to modulate expression. In the cerebral organoids, we observed a protective pattern from early tau phosphorylation.

Mini Endoscopic Combined Intra-Renal Surgery (MiniECIRS) with endoview puncture in A 12 month boy. A safe but challenging procedure.

Introduction: Associating minipercutaneous nephrolithotomy and retrograde flexible ureteroscopy (fURS) is called Mini Endoscopic Combined Intra-Renal Surgery (miniECIRS). It's a safe and efficient technique, also in children.

Material And Methods: The video describes miniECIRS in a 12 month-old boy with an infectious pelvic left stone (16 mm) and multiple caliceal stones.

Performance on the Latin American version of the Face-Name Associative Memory Exam (LAS-FNAME) distinguishes individuals with Mild Cognitive Impairment from age-matched controls in a sample from Argentina.

Introduction: The Latin American Spanish version of the Face-Name Associative Memory Exam (LAS-FNAME) has shown promise in identifying cognitive changes in those at risk for Alzheimer's disease (AD). However, its applicability for Mild Cognitive Impairment (MCI) detection in the Latin American population remains unexplored. This study aims to analyze the psychometric properties in terms of validity and reliability and diagnostic performance of the LAS-FNAME for the detection of memory disorders in patients with amnestic MCI (aMCI).

Study Partner Report of Apathy in Older Adults is Associated with AD Biomarkers: Findings from the Harvard Aging Brain Study.

Objectives: We examined relationships between apathy (self and study-partner-reported) and markers of Alzheimer's disease (AD) in older adults.

Design: The study utilized a well-characterized sample of participants from the Harvard Aging Brain Study (HABS), a longitudinal cohort study. Participants were cognitively unimpaired without clinically significant neuropsychiatric symptoms at HABS baseline.

The Utility and Safety of Ureteral Access Sheath During Retrograde Intrarenal Surgery in Children.

Objective: To compare retrograde intrarenal surgery (RIRS) with and without ureteral access sheath (UAS) in different pediatric age groups.

Methods: The data of RIRS for kidney stone in children were obtained from 9 institutions. Demographic characteristics of patients and stones, intraoperative and postoperative results were recorded.

The MAPP Room Memory Test: Examining Contextual Memory Using a Novel Computerized Test in Cognitively-Unimpaired Individuals with Autosomal Dominant Alzheimer's Disease.

Contextual memory, the ability to remember spatial or temporal features related to an event, is affected in Alzheimer's disease (AD). There is a shortfall of tests that measure contextual memory. To evaluate visuospatial contextual memory, we developed a computerized cognitive test, the MAPP Room Memory Test, which requires participants to identify in which visual scene target items were previously presented.

Novel avenues of tau research.

Introduction: The pace of innovation has accelerated in virtually every area of tau research in just the past few years.

Methods: In February 2022, leading international tau experts convened to share selected highlights of this work during Tau 2022, the second international tau conference co-organized and co-sponsored by the Alzheimer's Association, CurePSP, and the Rainwater Charitable Foundation.

Results: Representing academia, industry, and the philanthropic sector, presenters joined more than 1700 registered attendees from 59 countries, spanning six continents, to share recent advances and exciting new directions in tau research.

The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation.

Apolipoprotein E4 (APOE4) is the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD), leading to earlier age of clinical onset and exacerbating pathologies. There is a critical need to identify protective targets. Recently, a rare APOE variant, APOE3-R136S (Christchurch), was found to protect against early-onset AD in a PSEN1-E280A carrier.

Cross-cultural adaptation of the everyday cognition scale (M-ECog) in older Mexican adults with cognitive impairment.

Unlabelled: The Everyday Cognition (ECog) scale was created to evaluate the functional abilities of older adults across a wide range of abilities between normal aging and dementia. ECog screens cognitive alterations such as subjective cognitive decline (SCD) and mild cognitive impairment (MCI). This early recognition is done by the measurement of the ability to perform the activities of daily living (ADLs).

Depressive symptoms and hippocampal volume in autosomal dominant Alzheimer's disease.

Introduction: Depressive symptoms are among early behavioral changes in Alzheimer's disease (AD); however, the relationship between neurodegeneration and depressive symptoms remains inconclusive. To better understand this relationship in preclinical AD, we examined hippocampal volume and depressive symptoms in cognitively unimpaired carriers of the presenilin-1 (PSEN1) E280A mutation for autosomal dominant AD.

Methods: A total of 27 PSEN1 mutation carriers and 26 non-carrier family members were included.

Mobility and Sporting Activity After Renal Trauma: A Survey Regarding Best Clinical Practice During the Recovery Stage.

Objective: To evaluate strategies that are followed after pediatric renal trauma during the recovery stage, with an emphasis on mobility and involvement in subsequent sporting activities. Renal trauma is the most common urogenital trauma in children. The American Association for the Surgery of Trauma (AAST) scale is most commonly used to stratify the severity of injury.

APOE Christchurch-mimetic therapeutic antibody reduces APOE-mediated toxicity and tau phosphorylation.

Introduction: We discovered that the APOE3 Christchurch (APOE3Ch) variant may provide resistance to Alzheimer's disease (AD). This resistance may be due to reduced pathological interactions between ApoE3Ch and heparan sulfate proteoglycans (HSPGs).

Methods: We developed and characterized the binding, structure, and preclinical efficacy of novel antibodies targeting human ApoE-HSPG interactions.