Fahr

Fahr's disease (FD) is a rare disorder, characterized by basal ganglia calcification and presenting with movement disorders, speech impairment, cognitive deficits, and neuropsychiatric symptoms. Psychotic disorders related to FD are barely described in the literature, and knowledge is missing concerning pathophysiology, course, and management. Here, we report on the long-term follow-up of a patient who had three acute episodes of FD-psychosis characterized by bizarre delusions and behavioral disorganization, without hallucinations...

Fahr's syndrome affects fewer than 1 in 100,000 people. It is an inherited neurological disorder, which is distinguished by atypical calcium deposition in the movement-controlling areas of brain, that is thalamus, dentate nucleus, basal ganglia, cerebellum, cerebral cortex, hippocampus and subcortical white matter. The majority of patients often experience extrapyramidal symptoms, cerebellar signs, speech difficulty, dementia and neuropsychiatric manifestations. This disease's molecular genetics have not been thoroughly investigated...

No abstract text is available yet for this article.

Hypoparathyroidism is a rare metabolic disease. In addition to symptoms of hypocalcemia, chronic hypoparathyroidism can result in brain calcifications leading to Fahr syndrome. Hypoparathyroidism most commonly results as a postsurgical complication, with autoimmune disease the second most common etiology. Here we report a 48-year-old man with symptoms of chronic hypocalcemia who presented with status epilepticus following severe coronavirus disease 2019 (COVID-19) infection. In addition to severe hypocalcemia, he was found to have an inappropriately low serum parathyroid hormone level and basal ganglia calcifications visualized on head computed tomography scan...

PURPOSE: Mitral valve prolapse (MVP) is associated with left ventricle (LV) fibrosis, including the papillary muscles (PM), which is in turn linked to malignant arrhythmias. This study aims to evaluate comprehensive tissue characterization of the PM by cardiovascular magnetic resonance (CMR) imaging and its association with LV fibrosis observed by intraoperative biopsies. METHODS: MVP patients with indication for surgery due to severe mitral regurgitation (n = 19) underwent a preoperative CMR with characterization of the PM: dark-appearance on cine, T1 mapping, conventional bright blood (BB) and dark blood (DB) late gadolinium enhancement (LGE)...

OBJECTIVE: Major neurocognitive Disorder (NCD) is a largely heterogeneous condition with numerous etiological possibilities. Most diagnosed cases have unspecified origins. As such, Fahr's syndrome (FS) is a rare neurodegenerative condition that clinically presents with varying neurologic, neuropsychiatric, and movement disorder features. FS is characterized by bilateral basal ganglia calcifications secondary to other conditions (e.g., endocrine and metabolic disorders, infectious diseases)...

Fahr's disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal calcification of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, and cognitive decline. Genes implicated in Fahr's disease include PDGFB , PDGFRB , SLC20A2 , XPR1 , MYORG , and JAM2 . We present the case of a 51-year-old woman who developed subacute cognitive and behavioral changes primarily affecting frontal-subcortical pathways and parkinsonism in association with extensive bilateral calcifications within the basal ganglia, subcortical white matter, and cerebellum on neuroimaging...

Fahr's disease is a rare hereditary neurological disorder characterized by idiopathic basal ganglia and cerebral cortex calcifications. It presents a wide range of neurological manifestations, including motor dysfunction, sensory deficits, seizures, headaches, visual disturbances, and movement disorders. We present a case report of a 42-year-old female who presented to the accident and emergency department with a stroke alert. Her main symptom was left facial numbness. Otherwise, she was fit and well. A CT scan of her head revealed significant bilateral basal ganglia calcifications rather than ischaemic or haemorrhagic changes...

BACKGROUND: Primary familial brain calcification (PFBC) is a rare hereditary neurodegenerative disorder associated with the MYORG gene; however, the clinical and radiological characteristics of MYORG-PFBC remain unclear. METHODS: We present relevant medical data obtained from a patient affected by PFBC with a novel MYORG variant and conducted a mutational analysis of MYORG in her family members. We reviewed all reported PFBC cases with biallelic MYORG mutations until April 1, 2023, and summarized the associated clinical and radiological features and mutation sites...

Brain calcifications, previously known as Fahr's disease, is a rare neurological disorder marked by various clinical symptoms, including movement disorders, cognitive impairment, and psychiatric disturbances. Despite its clinical importance, its pathophysiology is unclear and there are no specific treatments. We present four cases of brain calcifications from our tertiary care center, with three female patients (75%) and an average age of 63 years. Our cohort featured both genetic and endocrine etiologies, including one primary familial brain calcification case with a c...

INTRODUCTION: Systemic lupus erythematosus (SLE) is a heterogenous, devastating autoimmune inflammatory disease with multiorgan involvement. A variety of neurological and psychiatric symptoms may be caused by nervous system involvement, termed neuropsychiatric systemic lupus erythematosus. CASE REPORT: We describe a young man newly diagnosed with SLE who had a stroke as an initial symptom and was found to have cerebral large-vessel vasculitis and Fahr syndrome. CONCLUSIONS: The novelties of this report are the extensive cerebral calcification demonstrated on head computerized tomography in a patient with SLE, and the depiction of an underlying vasculitis on high-resolution magnetic resonance vessel wall imaging...

Recently, Tummino et al. reported that 34 compounds, including Chloroquine and Fluoxetine, inhibit SARS-CoV-2 replication by inducing phospholipidosis, although Chloroquine failed to suppress viral replication in Calu-3 cells and patients. In contrast, Fluoxetine represses viral replication in human precision-cut lung slices (PCLS) and Calu-3 cells. Thus, it is unlikely that these compounds have similar mechanisms of action. Here, we analysed a subset of these compounds in the viral replication and phospholipidosis assays using the Calu-3 cells and PCLS as the patient-near system...

In the present paper, we investigate how the reductions in shear stresses and pressure losses in microfluidic gaps are directly linked to the local characteristics of cell-free layers (CFLs) at channel Reynolds numbers relevant to ventricular assist device (VAD) applications. For this, detailed studies of local particle distributions of a particulate blood analog fluid are combined with wall shear stress and pressure loss measurements in two complementary set-ups with identical flow geometry, bulk Reynolds numbers and particle Reynolds numbers...

UNLABELLED: Fahr's syndrome, also known as bilateral striatopallidodentate calcinosis is a rare neurological disorder that is characterized by abnormal deposition of calcium in the basal ganglia, cerebellar dentate nuclei, and cerebral cortical white matter. The authors report an extremely uncommon case of Fahr's syndrome with thrombocytopenia, hypoparathyroidism, and seizure. CASE PRESENTATION: A 32-year-old male was brought with a repeated history of twitching of hands, tingling sensation, and uncontrolled seizure despite medications...

No abstract text is available yet for this article.

Salinity is one of the most significant environmental factors limiting legumes development and productivity. Salt stress disturbs all developmental stages of legumes and affects their hormonal regulation, photosynthesis and biological nitrogen fixation, causing nutritional imbalance, plant growth inhibition and yield losses. At the molecular level, salt stress exposure involves large number of factors that are implicated in stress perception, transduction, and regulation of salt responsive genes' expression through the intervention of transcription factors...

Franz Volhard (May 2, 1872, to May 24, 1950) was a German clinician and researcher who made outstanding contributions to the field of nephrology and hyper-tension. His studies led to important developments in knowledge about the pathophysiology of the kidney and its relationship to cardiovascular disease. He contributed to a better understanding of the mechanisms underlying renovascular hypertension by explaining the crucial relationship between the decrease in renal blood flow and the increase in blood pressure...

We describe a 20-year-old male with childhood-onset seizures and a prolonged history of anti-epileptic use. The cause of his seizures remained undetected until he reached the second decade of his life. Extensive intracranial calcifications on brain imaging helped us identify hypocalcemia as a cause of seizures. He had low calcium due to primary hypoparathyroidism. He also had severe aplastic anemia at this time. There were a series of missed opportunities in his history that could have prevented prolonged anti-epileptic use and probably preserved his marrow...

Fahr's syndrome is defined by the presence of striato-pallido-dentate calcifications. It is a rare entity with clinical polymorphism, and it occurs in patients with dysparathyroidism, especially those with hypoparathyroidism. It must be distinguished from Fahr's disease (FD), which is defined by the presence of intracerebral calcifications without phosphocalcic metabolism abnormality. In this paper, we report the particulars of five patients diagnosed with Fahr's syndrome revealed by neurological and cognitive disorders, seizures, and abnormal movements associated with tetany crisis...

Fahr's syndrome, also known as bilateral striopallidodendate calcinosis, is a rare inherited neurodegenerative illness characterized by abnormal calcium deposition in several areas of the brain, resulting in a wide range of neuropsychological symptoms. Fahr's syndrome, secondary to autoimmune polyendocrine syndrome type 1, which includes adrenal insufficiency and mucocutaneous candidiasis in addition to hypoparathyroidism, is exceedingly rare. No case report has been documented to date to show the co-occurrence of Fahr's syndrome and neuromyelitis optica spectrum disorder...