Challenging the boundaries: c9orf72 mutation presenting as Alzheimer's disease.

C9orf72 hexanucleotide repeat expansion is a major cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD), while its link with Alzheimer's disease (AD) is still unclear. We describe the case of a 53-year-old man with progressive memory and language deficits, mood disturbances, and a positive family history for ALS-FTD. Cerebrospinal fluid showed amyloid positivity, confirmed by amyloid-PET, with normal tau levels; [F]FDG-PET revealed an AD-like temporoparietal hypometabolism.

Unveiling Cortical Criticality Changes along the Prodromal to the Overt Continuum of Alpha-Synucleinopathy.

Patients with idiopathic/isolated REM sleep behavior disorder (iRBD) are in the prodromal stage of alpha-synucleinopathies. Neurodegeneration early affects subcortical structures, including the substantia nigra, in iRBD patients. However, it remains unclear whether there is also an early neurodegeneration process affecting the cerebral cortex.

How can we define a brain health chart? A narrative review and a proposal.

In recent years, there has been a significant change in the type of patients referred to memory clinics, characterized by an increase in mildly symptomatic individuals and potentially even healthy people at risk of cognitive decline due to Alzheimer's disease and other neurodegenerative diseases in this context. Additionally, there is growing interest in developing health services focused on brain health throughout the lifespan, particularly within a primary prevention framework. This effort has led to proposing dedicated "brain health services" for dementia risk reduction.

Depressive Symptoms and Amyloid Pathology.

Importance: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology.

Albi score predicts overall survival (OS) in patients with hepatocellular carcinoma (HCC) treated with selective internal radiation therapy (SIRT).

Purpose: We aimed to evaluate the prognostic impact of baseline clinical features and treatment procedure, including liver function measured with albumin-bilirubin (ALBI) formula and dosing methods in HCC patients treated with SIRT.

Material And Methods: The study includes 82 consecutive patients with liver-dominant HCC treated with SIRT (Y glass microspheres, TheraSphereTM) between October 2014 and September 2023. Twenty-five patients were treated with standard dosimetry, while for remaining patients, multi-compartment dosimetry was performed using Simplicit90YTM software.

Sex-related differences in amyotrophic lateral sclerosis: A 2-[F]FDG-PET study.

Purpose: We investigated sex-related brain metabolic differences in Amyotrophic Lateral Sclerosis (ALS) and healthy controls (HC).

Methods: We collected two equal-sized groups of male (m-ALS) and female ALS (f-ALS) patients (n = 130 each), who underwent 2-[F]FDG-PET at diagnosis, matched for site of onset, cognitive status and King's stage. We included 168 age-matched healthy controls, half female (f-HC) and half male (m-HC).

Mycoplasma hominis as Cause of Extragenital Infection in Patients with Hypogammaglobulinemia: Report of 2 Cases and Literature Review.

Mycoplasma hominis can be a part of human urogenital tract microbiome, and it is a frequent cause of urogenital infections. In rare cases, it can also cause extragenital infections, especially in immunocompromised patients. In this case series, we report two cases and provide a literature review of extragenital infections caused by M.

European intersocietal recommendations for the biomarker-based diagnosis of neurocognitive disorders.

The recent commercialisation of the first disease-modifying drugs for Alzheimer's disease emphasises the need for consensus recommendations on the rational use of biomarkers to diagnose people with suspected neurocognitive disorders in memory clinics. Most available recommendations and guidelines are either disease-centred or biomarker-centred. A European multidisciplinary taskforce consisting of 22 experts from 11 European scientific societies set out to define the first patient-centred diagnostic workflow that aims to prioritise testing for available biomarkers in individuals attending memory clinics.

Imaging Correlates between Headache and Breast Cancer: An [F]FDG PET Study.

This study aimed to examine brain metabolic patterns on [F]Fluorodeoxyglucose ([F]FDG) positron emission tomography (PET) in breast cancer (BC), comparing patients with tension-type headache (TTH), migraine (MiG), and those without headache. Further association with BC response to neoadjuvant chemotherapy (NAC) was explored. In this prospective study, BC patients eligible for NAC performed total-body [F]FDG PET/CT with a dedicated brain scan.

Non-conventional and Investigational PET Radiotracers for Breast Cancer: A Systematic Review.

Breast cancer is one of the most common malignancies in women, with high morbidity and mortality rates. In breast cancer, the use of novel radiopharmaceuticals in nuclear medicine can improve the accuracy of diagnosis and staging, refine surveillance strategies and accuracy in choosing personalized treatment approaches, including radioligand therapy. Nuclear medicine thus shows great promise for improving the quality of life of breast cancer patients by allowing non-invasive assessment of the diverse and complex biological processes underlying the development of breast cancer and its evolution under therapy.

Clinical and FDG-PET/CT correlates in patients with polymyalgia rheumatica.

Objectives: We aimed to evaluate joint and vessel uptake in patients with polymyalgia rheumatica (PMR) by FDG-PET and correlate it with clinical findings.

Methods: Consecutive PMR patients, without clinical signs of giant cell arteritis, underwent a standardised clinical examination and FDG-PET/CT. Controls were consecutive subjects undergoing FDG-PET for the suspicion of neoplasm not confirmed by the examination.

Prediction of Response in Head and Neck Tumor: Focus on Main Hot Topics in Research.

Radiation therapy is a cornerstone in the treatment of head and neck cancer patients; actually, their management is based on clinical and radiological staging with all patients at the same stage treated in the same way. Recently the increasing knowledge in molecular characterization of head and neck cancer opens the way for a more tailored treatment. Patient outcomes could be improved by a personalized radiotherapy beyond technological and anatomical precision.

Incremental value of amyloid-PET versus CSF in the diagnosis of Alzheimer's disease.

Purpose: To compare the incremental diagnostic value of amyloid-PET and CSF (Aβ42, tau, and phospho-tau) in AD diagnosis in patients with mild cognitive impairment (MCI) or mild dementia, in order to improve the definition of diagnostic algorithm.

Methods: Two independent dementia experts provided etiological diagnosis and relative diagnostic confidence in 71 patients on 3 rounds, based on (1) clinical, neuropsychological, and structural MRI information alone; (2) adding one biomarker (CSF amyloid and tau levels or amyloid-PET with a balanced randomized design); and (3) adding the other biomarker.

Results: Among patients with a pre-biomarker diagnosis of AD, negative PET induced significantly more diagnostic changes than amyloid-negative CSF at both rounds 2 (CSF 67%, PET 100%, P = 0.

Two-way crossed cerebellar diaschisis in a clinically isolated syndrome suggestive of multiple sclerosis.

The term diaschisis refers to a neural dysfunction manifesting in anatomically intact, but functionally related, brain regions distant from a primary lesion. Here we report the diaschisis phenomenon as a consequence of a first demyelinating event in the middle and superior cerebellar peduncles in both the ipsilateral cerebellar hemisphere and in the contralateral thalamus and cerebral cortex (two-way crossed cerebellar diaschisis), resulting in the simultaneous disruption of the afferent cortico-ponto-cerebellar pathway and the efferent cerebellar-thalamo-cortical pathway. The use of 18F-FDG-PET could help clarifying in vivo the distant pathophysiological effect of focal lesions in inflammatory diseases such as multiple sclerosis.

Whole body and cardiac metaiodobenzylguanidine kinetics in Parkinson disease and multiple system atrophy: implications for the diagnostic role of imaging.

Purpose Of The Report: This study investigates whether combined analysis of I-123 metaiodobenzylguanidine (MIBG) kinetics in the heart and in the whole body can improve the accuracy of differential diagnosis between idiopathic Parkinson disease (PD) and a Parkinson variant of multiple system atrophy (MSA-P).

Materials And Methods: A total of 30 patients with clinical suspicion of PD (n = 16) or MSA-P (n = 14) underwent MIBG whole-body planar imaging. Final diagnosis was confirmed at follow-up.

Optimization of flow reserve measurement using SPECT technology to evaluate the determinants of coronary microvascular dysfunction in diabetes.

Purpose: The aim of this study was to validate a new method to measure regional myocardial perfusion reserve (MPR) with technetium-labelled tracers in patients with type 2 diabetes mellitus (DM2).

Methods: A total of 40 consecutive DM2 patients without history of coronary artery disease (CAD) and 7 control subjects were recruited. Dipyridamole myocardial blood flow index (MBF) was assessed by measuring first transit counts in the pulmonary artery and myocardial count rate from gated SPECT images using (99m)Tc-labelled tracers.