SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Tasks execution with a common due date on parallel machines with optimality criteria: total earliness minimization regarding the due date and the tasks' start time execution maximization [PDF]
In the article the properties of the problem are researched to build a feasible schedule of tasks execution with a common due date for parallel machines with two simultaneous criteria of optimality: total earliness minimization regarding the due date and
Sperkach, M. O. +3 more
core +1 more source
Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer +11 more
wiley +1 more source
Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani +10 more
wiley +1 more source
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub +24 more
wiley +1 more source
Self-insertion of needles: An unusual cause of empyema thoracis and its thoracoscopic management
Intrapulmonary aberrant needles are rare in clinical practice. Most common cause till date is the intra-thoracic migration of pins and wires commonly used in treatment of fractures and dislocations of upper extremity.
Jain Vinod +3 more
doaj
Analysis of ear, nose and throat injuries reporting to a tertiary care hospital in Sikkim [PDF]
Aims: This study aims to analyse the pattern of ENT injuries in patient presenting to the institute. Settings and Design: This study was conducted in the department of ENT, Sikkim Manipal Institute of Medical Sciences, Gangtok. Methods and Material: Date
Abhijeet Bhatia, Isha Preet Tuli
doaj
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi +9 more
wiley +1 more source

