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Heart failure (HF) patients frequently develop brain deficits that lead to cognitive dysfunction (CD), which may ultimately also affect survival. There is an important interaction between brain and heart that becomes crucial for survival in patients with HF. Our aim was to review the brain/heart interactions in HF and discuss the emerging role of combined brain/heart magnetic resonance imaging (MRI) evaluation. A scoping review of published literature was conducted in the PubMed EMBASE (OVID), Web of Science, Scopus and PsycInfo databases. Keywords for searches included heart failure, brain lesion, brain, cognitive, cognitive dysfunction, magnetic resonance imaging cardiovascular magnetic resonance imaging electroencephalogram, positron emission tomography and echocardiography. CD testing, the most commonly used diagnostic approach, can identify neither subclinical cases nor the pathophysiologic background of CD. A combined brain/heart MRI has the capability of diagnosing brain/heart lesions at an early stage and potentially facilitates treatment. Additionally, valuable information about edema, fibrosis and cardiac remodeling, provided with the use of cardiovascular magnetic resonance, can improve HF risk stratification and treatment modification. However, availability, familiarity with this modality and cost should be taken under consideration before final conclusions can be drawn. Abnormal CD testing in HF patients is a strong motivating factor for applying a combined brain/heart MRI to identify early brain/heart lesions and modify risk stratification accordingly. [ABSTRACT FROM AUTHOR]

Introduction Wilson disease (WD) is an autosomal recessive genetic disorder caused by loss-of-function mutations in the P-type copper ATPase, ATP7B (ATPase copper-transporting beta), which transports copper out of cells. It is characterized by toxic accumulation of copper primarily in the liver and brain, leading to liver disorders and/or neuropsychiatric symptoms. Objectives Here, we report a Tunisian pedigree associated to familial ATP7B gene mutation. Methods Medical genetic investigations, and molecular screening of ATP7B gene mutations were performed to a Tunisian three-generation pedigree with eight members having neuropsychiatric symptoms. Molecular genetic testing of the ATP7B 21 exons was carried out by direct sequencing. Results A compound heterozygote mutational status of ATP7B with 2 substitutions: p.H1069Q and p.D642H was found. The family originated from the city of Sfax (Tunisia) showed a pronounced amount of consanguinity and eight members affected by WD. All cases derived from consanguineous couples and harbored psychiatric disorders associated or not to neurologic symptoms. Diagnosis of WD was piloted first through the cases harbouring intention tremor in the upper limbs and ataxia associated with psychiatric symptoms. Conclusions The first missense mutation p.H1069Q - c.3207C>A (CAC-CAA) (exon 14) is the most commonest mutation in WD associated with late onset neurological conditions in Europe (Natural variantiVAR_000758 dbSNP:rs76151636). The second missense mutation in exon 6 : p.D642H - c.1924G>C (GAC-CAC) (Natural variantiVAR_000713 dbSNP:rs72552285) affects the domain affinity to copper or the folding structure in the cytoplasmic region and decreases the stability, leading to abnormal localization of the protein within cytoplasm and an impairment of protein function. Disclosure No significant relationships.

Objectives: To study potentially modifiable factors associated with the severity of agitation or aggression (A/A) symptoms among Alzheimer's disease (AD) patients.Design: Data from the Impact of Cholinergic Treatment Use (ICTUS) study, European longitudinal prospective observational study.Setting: Community dwelling outpatients included in 29 European memory clinics.Participants: 1375 participants with probable AD (Mini-Mental State Examination score of 10-26) with an informal caregiver.Measurements: At baseline and twice yearly over the two-year follow-up, patients underwent comprehensive clinical and neuropsychological assessments: sociodemographic data, cognitive status, functional impairment, and assessment of neuropsychiatric symptoms based on Neuro-Psychiatric Inventory (NPI). The ZARIT scale assessed the caregiver's burden. The variable of interest was the severity of the item of A/A of the NPI. To study factors associated to the severity of A/A symptoms six months later, a multivariate mixed regression model was used.Results: Frequency of A/A symptom varied from 30% to 34% at each visit. Two factors were found to be independently associated with the severity of A/A: (1) the presence of affective disorder (anxiety, depression, and/or irritability) that increased the severity of the A/A by 0.89 point (coefficient:0.89; 95% Confidence Interval (CI) = [0.48,1.30], p < 0.001), and (2) a severe caregiver burden that increased the severity of the A/A by 1.08 point (coefficient:1.08; 95% CI = [0.69,1.47], p < 0.001).Conclusion: Research should evaluate whether the identification and treatment of an affective disorder along with the evaluation and optimal management of the caregiver would have a positive impact on the course of A/A in mild to moderate AD patients. [ABSTRACT FROM AUTHOR]

A 15 year-old girl presented with acute psychosis, seizures and right shoulder dislocation with an overlying abscess. The symptomatology was diagnosed to be due to Wilson's disease. The anaesthetic management and postoperative analgesia was a challenging task in presence of hepatic and acute neurological dysfunction as well as difficulty in pain assessment. There are only a few reported cases of anaesthetic management in patients with Wilson's disease with severe neuropsychiatric symptoms. This case portrays the safe use of both general and regional anaesthesia in such a patient. [ABSTRACT FROM AUTHOR]

Introduction: Wilson disease (WD) is an autosomal recessive genetic disorder caused by loss-of-function mutations in the P-type copper ATPase, ATP7B (ATPase copper-transporting beta), which transports copper out of cells. It is characterized by toxic accumulation of copper primarily in the liver and brain, leading to liver disorders and/or neuropsychiatric symptoms. Objectives: Here, we report a Tunisian pedigree associated to familial ATP7B gene mutation. Methods: Medical genetic investigations, and molecular screening of ATP7B gene mutations were performed to a Tunisian threegeneration pedigree with eight members having neuropsychiatric symptoms. Molecular genetic testing of the ATP7B 21 exons was carried out by direct sequencing. Results: A compound heterozygote mutational status of ATP7B with 2 substitutions: p.H1069Qand p.D642H was found. The family originated from the city of Sfax (Tunisia) showed a pronounced amount of consanguinity and eight members affected by WD. All cases derived fromconsanguineous couples and harbored psychiatric disorders associated or not to neurologic symptoms. Diagnosis of WDwas piloted first through the cases harbouring intention tremor in the upper limbs and ataxia associated with psychiatric symptoms. Conclusions: The first missense mutation p.H1069Q - c.3207C>A (CAC-CAA) (exon 14) is the most commonest mutation in WD associated with late onset neurological conditions in Europe (Natural variantiVAR_000758 dbSNP:rs76151636). The second missense mutation in exon 6: p.D642H - c.1924G>C (GAC-CAC) (Natural variantiVAR_000713 dbSNP:rs72552285) affects the domain affinity to copper or the folding structure in the cytoplasmic region and decreases the stability, leading to abnormal localization of the protein within cytoplasm and an impairment of protein function. [ABSTRACT FROM AUTHOR]

Background: Autoimmune rheumatic diseases (ARDs) may affect both the heart and the brain. However, little is known about the interaction between these organs in ARD patients. We asked whether brain lesions are more frequent in ARD patients with cardiac symptoms compared with non-ARD patients with cardiovascular disease (CVD). Methods: 57 ARD patients with mean age of 48 ± 13 years presenting with shortness of breath, chest pain, and/or palpitations, and 30 age-matched disease-controls with non-autoimmune CVD, were evaluated using combined brain–heart magnetic resonance imaging (MRI) in a 1.5T system. Results: 52 (91%) ARD patients and 16 (53%) controls had white matter hyperintensities (p < 0.001) in at least one brain area (subcortical/deep/periventricular white matter, basal ganglia, pons, brainstem, or mesial temporal lobe). Only the frequency and number of subcortical and deep white matter lesions were significantly greater in ARD patients (p < 0.001 and 0.014, respectively). ARD vs. control status was the only independent predictor of having any brain lesion. Specifically for deep white matter lesions, each increase in ECV independently predicted a higher number of lesions [odds ratio (95% confidence interval): 1.16 (1.01–1.33), p = 0.031] in ordered logistic regression. Penalized logistic regression selected only ARD vs. control status as the most important feature for predicting whether brain lesions were present on brain MRI (odds ratio: 5.46, marginal false discovery rate = 0.011). Conclusions: Subclinical brain involvement was highly prevalent in this cohort of ARD patients and was mostly independent of the severity of cardiac involvement. However, further research is required to determine the clinical relevance of these findings. [ABSTRACT FROM AUTHOR]