Results 181 to 190 of about 860,977 (325)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease
ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley +1 more source
Beyond Ancient Societies: Medical Practices that Draw Parallels [PDF]
Lee, James
core +1 more source
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki+5 more
wiley +1 more source
Defining expert opinion in clinical guidelines: insights from 98 scientific societies - a methodological study. [PDF]
Nagavci B, Gáspár Z, Lakatos B.
europepmc +1 more source
Development of a Disease Model for Predicting Postoperative Delirium Using Combined Blood Biomarkers
ABSTRACT Objective Postoperative delirium, a common neurocognitive complication after surgery and anesthesia, requires early detection for potential intervention. Herein, we constructed a multidimensional postoperative delirium risk‐prediction model incorporating multiple demographic parameters and blood biomarkers to enhance prediction accuracy ...
Hengjun Wan+7 more
wiley +1 more source
Global Guidelines and Trends in HPV Vaccination for Cervical Cancer Prevention. [PDF]
Miazga W+5 more
europepmc +1 more source
Abnormal Synchronization Between Cortical Delta Power and Ripples in Hippocampal Sclerosis
ABSTRACT Objective Discriminating between epileptogenic and physiological ripples in the hippocampus is important for identifying epileptogenic (EP) zones; however, distinguishing these ripples on the basis of their waveforms is difficult. We hypothesized that the nocturnal synchronization of hippocampal ripples and cortical delta power could be used ...
Takamitsu Iwata+10 more
wiley +1 more source