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JOURNAL ARTICLE
Daizo Ishii, Nobutaka Horie
Currently, stricter indications for carotid artery stenosis are required owing to improvements in multifaceted medical treatment, including the intensive management of risk factors for atherosclerosis and lifestyle changes. High-risk factors for carotid artery stenting, such as vulnerable plaques, severe calcification, pseudo-occlusion, and difficult access, should be evaluated before endovascular intervention. Therefore, we need to understand the characteristics of each device to achieve maximum risk reduction for carotid artery stenting...
March 2024: No Shinkei Geka. Neurological Surgery
#22
Bushra Zafar Sayeed, Faiza Zafar Sayeed, Muhammad Nashit, Shaheen Bhatty
Background: Thyroid and parathyroid hormones are essential components of the metabolic system and its regulation. Concurrent hyperthyroidism with hypoparathyroidism is an extremely rare finding and is not considered a common etiology of brain calcifications seen on imaging. Brain calcifications can cause a range of neurologic symptoms, including movement disorders, cognitive impairment, and seizures. Prompt recognition and treatment of hypoparathyroidism are essential to prevent or minimize the development of brain calcifications and associated neurologic symptoms...
2024: Ochsner Journal
#23
JOURNAL ARTICLE
Anastasiia Denysenko, Sergey Danilchenko, Andriy Stepanenko, Vadym Chivanov, Roman Moskalenko
Biomineralization of brain tissues occurs both in normal and pathological conditions. Dura mater biomineralization is widespread and occurs in 1-72% of cases, depending on the patient's age and research method. The amount of biomineral deposits under the conditions of tumor growth in the meninges only increases, reaching 100% in the case of psammomatous meningiomas. Since calcifications are often found in the meninges, the problem of differential diagnosis with calcified meningiomas arises. A total of 30 samples of meningiomas with signs of biomineralization-dense structure, characteristic crunch, psammoma bodies (group I) and 30 samples of meningiomas without any signs of biomineralization were examined as controls (group II)...
March 19, 2024: Microscopy and Microanalysis
#24
JOURNAL ARTICLE
Pablo R Castillo, Vishal Patel, Robertino M Mera, Denisse A Rumbea, Oscar H Del Brutto
BACKGROUND AND PURPOSE: Recent studies have suggested an association between dysfunction of the choroid plexus and the glymphatic system. However, information is inconclusive. Following a population-based study design, we aimed to assess the association between choroid plexus calcifications (CPCs)-as a surrogate of choroid plexus dysfunction-and severity and progression of putative markers of glymphatic dysfunction, including white matter hyperintensities (WMH) of presumed vascular origin and abnormally enlarged basal ganglia perivascular spaces (BG-PVS)...
March 15, 2024: Neuroradiology Journal
#25
JOURNAL ARTICLE
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan S Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC. The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity...
March 13, 2024: Nature Communications
#26
JOURNAL ARTICLE
Faten Cherchir, Ibtissem Oueslati, Meriem Yazidi, Fatma Chaker, Habiba Mizouni, Moncef Feki, Melika Chihaoui
INTRODUCTION: Patients with Chronic hypoparathyroidism (CHPT) receiving conventional treatment are exposed to several long-term complications including basal ganglia calcifications, posterior subcapsular cataract, kidney stones, and renal insufficiency. The aim of this study was to assess the prevalence and the associated factors of these complications in patients with CHPT. METHODS: We conducted a cross-sectional study including 58 patients with CHPT. All participants underwent physical examination, biochemical assessment (total serum calcium, serum phosphorus, serum albumin, intact-PTH, serum magnesium, 25-hydroxy-vitamin D, serum creatinine, thyroid stimulating hormone (TSH), and 24-hour urinary calcium), slit lamp examination, brain computed tomography scan (CT-scan), and renal ultrasound...
March 9, 2024: Endocrine
#27
JOURNAL ARTICLE
Kiyotaka Yokogami, Takashi Watanabe, Shinji Yamashita, Asako Mizuguchi, Hideo Takeshima
PURPOSE: Meningiomas are the most common type of brain tumors and are generally benign, but malignant atypical meningiomas and anaplastic meningiomas frequently recur with poor prognosis. The metabolism of meningiomas is little known, so few effective treatment options other than surgery and radiation are available, and the targets for treatment of recurrence are not well defined. The Aim of this paper is to find the therapeutic target. METHODS: The effects of bone morphogenetic protein (BMP) signal inhibitor (K02288) and upstream regulator Gremlin2 (GREM2) on meningioma's growth and senescence were examined...
March 6, 2024: Journal of Neuro-oncology
#28
JOURNAL ARTICLE
Mana Khojasteh, Parsa Soleimani, Aida Ghasemi, Peyman Taghizadeh, Mohammad Rohani, Afagh Alavi
INTRODUCTION: Mutations in JAM2 have been linked to ~ 2% of primary familial brain calcification (PFBC) cases. PFBC is a rare neurological disorder characterized by excessive calcium deposition in the brain. It causes movement disorders and psychiatric problems. Six other genes were identified as causing PFBC. However, the genetic basis of ~ 50% of PFBC cases remains unknown. This study presented the results of a comprehensive analysis of five unrelated Iranian PFBC families...
March 5, 2024: Neurological Sciences
#29
JOURNAL ARTICLE
Euihyun Sung, Wonjae Sung, Young-Jun Lee, So Yeong Jeong, Soo Jeong, Hyun Young Kim, Hyuk Sung Kwon, Seong-Ho Koh, Young Seo Kim
Vertebral artery dissection (VAD) is often associated with medullary infarction; however, an underlying cause may be underestimated. This study aimed to assess the diagnostic potential of hypointense signal lesions along the arterial pathways using susceptibility-weighted imaging (SWI) as a feasible indicator of VAD in medullary infarction. A retrospective analysis was conducted using clinical data, brain magnetic resonance imaging, and angiography records of 79 patients diagnosed with medullary infarction between January 2014 and December 2021...
March 4, 2024: Scientific Reports
#30
JOURNAL ARTICLE
Sojung Yoon, Seok Jong Chung, Yun Joong Kim
No abstract text is available yet for this article.
March 2024: Journal of Clinical Neurology
#31
JOURNAL ARTICLE
Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, Wandrille Delcroix, Kévin Cassinari, Anne-Claire Richard, Anne Boland, Jean-François Deleuze, Cyril Goizet, Alice Rucar, Christophe Verny, Karine Nguyen, Magalie Lecourtois, Gaël Nicolas
More than 50% of patients with primary familial brain calcification (PFBC), a rare neurological disorder, remain genetically unexplained. While some causative genes are yet to be identified, variants in non-coding regions of known genes may represent a source of missed diagnoses. We hypothesized that 5'-Untranslated Region (UTR) variants introducing an AUG codon may initiate mRNA translation and result in a loss of function in some of the PFBC genes. After reannotation of exome sequencing data of 113 unrelated PFBC probands, we identified two upstream AUG-introducing variants in the 5'UTR of PDGFB...
March 4, 2024: European Journal of Human Genetics: EJHG
#32
JOURNAL ARTICLE
Jose Gutierrez, Daniel Bos, Tanya N Turan, Brian Hoh, Saima Hilal, Juan F Arenillas, Julie A Schneider, Marc Chimowitz, Susan Morgello
INTRODUCTION: Brain arterial diseases, including atherosclerosis, vasculitis, and dissections, are major contributors to cerebrovascular morbidity and mortality worldwide. These diseases not only increase the risk of stroke but also play a significant role in neurodegeneration and dementia. Clear and unambiguous terminology and classification of brain arterial disease phenotypes is crucial for research and clinical practice. MATERIAL AND METHODS: This review aims to summarize and harmonize the terminology used for brain large and small arterial phenotypes based on pathology studies and relate them to imaging phenotypes used in medical research and clinical practice...
February 21, 2024: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
#33
JOURNAL ARTICLE
Weicheng Lu, Jianfei Yan, Chenyu Wang, Wenpin Qin, Xiaoxiao Han, Zixuan Qin, Yu Wei, Haoqing Xu, Jialu Gao, Changhe Gao, Tao Ye, Franklin R Tay, Lina Niu, Kai Jiao
Brain-derived extracellular vesicles participate in interorgan communication after traumatic brain injury by transporting pathogens to initiate secondary injury. Inflammasome-related proteins encapsulated in brain-derived extracellular vesicles can cross the blood‒brain barrier to reach distal tissues. These proteins initiate inflammatory dysfunction, such as neurogenic heterotopic ossification. This recurrent condition is highly debilitating to patients because of its relatively unknown pathogenesis and the lack of effective prophylactic intervention strategies...
February 22, 2024: Bone Research
#34
Hajime Ikenouchi, Takuya Saito, Shota Igasaki, Yuichi Kawabata, Yukako Yazawa
A 69-year-old man, with a history of left superficial temporal artery-middle cerebral artery bypass due to cerebral infarction by left internal carotid artery occlusion, was hospitalized with acute right hemispatial neglect and left hemiparesis. Diffusion-weighted imaging showed a high-intensity lesion in the right insular cortex. Although there seemed to be no arterial occlusion in magnetic resonance angiography (MRA), non-contrast computed tomography (CT) on admission showed calcification in the right Sylvian fissure...
January 2024: Curēus
#35
REVIEW
Adam Denes, Cathrin E Hansen, Uemit Oezorhan, Sara Figuerola, Helga E de Vries, Lydia Sorokin, Anna M Planas, Britta Engelhardt, Markus Schwaninger
Diseases of the central nervous system (CNS) are often associated with vascular disturbances or inflammation and frequently both. Consequently, endothelial cells and macrophages are key cellular players that mediate pathology in many CNS diseases. Macrophages in the brain consist of the CNS-associated macrophages (CAMs) [also referred to as border-associated macrophages (BAMs)] and microglia, both of which are close neighbours or even form direct contacts with endothelial cells in microvessels. Recent progress has revealed that different macrophage populations in the CNS and a subset of brain endothelial cells are derived from the same erythromyeloid progenitor cells...
February 12, 2024: Acta Neuropathologica
#36
JOURNAL ARTICLE
Gini Mathijssen, Evelien van Valen, Pim A de Jong, Nienke M S Golüke, Emiel A van Maren, Birgitta M G Snijders, Eva H Brilstra, Ynte M Ruigrok, Susan Bakker, Renzo W Goto, Marielle H Emmelot-Vonk, Huiberdina L Koek
(1) Background: Primary Familial Brain Calcification (PFBC) is a neurodegenerative disease characterized by bilateral calcifications of the basal ganglia and other intracranial areas. Many patients experience symptoms of motor dysfunction and cognitive disorders. The aim of this study was to investigate the association between the amount and location of intracranial calcifications with these symptoms. (2) Methods: Patients with suspected PFBC referred to our outpatient clinic underwent a clinical work-up. Intracranial calcifications were visualized on Computed Tomography (CT), and a Total Calcification Score (TCS) was constructed...
January 31, 2024: Journal of Clinical Medicine
#37
Aisha M Adam, Omar A Sheikh, Miski A Roble, Mehmet Z Yaşar, Shukri S Mohamed, Mohamed M Kassim
INTRODUCTION AND IMPORTANCE: Fahr's syndrome is primarily familial, autosomal dominant, and genetically diverse. Basal ganglia calcification that is bilaterally symmetrical is a hallmark of this illness. Although the specific origins of this illness are unknown, it may be brought on by problems with calcium metabolism, infections, toxins, hereditary factors, hypoparathyroidism, and pseudohypoparathyroidism. The prevalence of this syndrome is less than 0.5%. CASE PRESENTATION: An 11-year-old female comes to the Emergency Department with her parents complaining of high-grade fever and convulsions for 1 week...
February 2024: Annals of Medicine and Surgery
#38
JOURNAL ARTICLE
Carmen Cerron-Vela, Fabricio Guimarães Gonçalves, Angela N Viaene, Luis Octavio Tierradentro-García, Arastoo Vossough
Polymorphous low-grade neuroepithelial tumors of the young (PLNTY) are rare brain tumors first described in 2017 and recently included in the 2021 5th World Health Organization Classification of Tumors of the Central Nervous System. They typically affect children and young adults. Few pediatric cases have been reported in the literature. The most common imaging features described, include location within the temporal lobe, involvement of the cortical/subcortical region, coarse calcifications, and well-defined margins with solid and cystic morphology, with slight-or-no enhancement...
February 8, 2024: AJNR. American Journal of Neuroradiology
#39
JOURNAL ARTICLE
Adnan Naeem, Namrah Aziz, Manal Nasir, Hussain Sohail Rangwala, Hareer Fatima, Fatima Mubarak
Background Oligodendrogliomas, rare brain tumors in the frontal lobe's white matter, are reshaped by molecular markers like isocitrate dehydrogenase mutations and 1p/19q co-deletion, influencing treatment outcomes. Despite the initial indolence, these tumors pose a significant risk, with a median survival of 10-12 years. Non-invasive alternatives, such as magnetic resonance imaging (MRI) for assessing T2-fluid-attenuated inversion recovery (FLAIR) mismatch and calcifications, provide insights into molecular subtypes and aid prognosis...
January 2024: Curēus
#40
RANDOMIZED CONTROLLED TRIAL
Birgitta Mg Snijders, Gini Mathijssen, Mike Jl Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera Pm Schepers, Wilko Spiering, Evelien van Valen, Huiberdina L Koek
BACKGROUND: Fahr's disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement disorders and neuropsychiatric symptoms. No disease-modifying therapies are available. Studies have shown the potential of treatment of ectopic vascular calcifications with bisphosphonates. This paper describes the rationale and design of the CALCIFADE trial which evaluates the effects of etidronate in patients with Fahr's disease or syndrome...
February 7, 2024: Orphanet Journal of Rare Diseases
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