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JOURNAL ARTICLE
Arthur Araújo Massoud Salame, Helaine Laiz Silva Charchar, José Paulo de Oliveira Dourado, Berenice Mendonca, Guilherme Asmar Alencar, Leonardo José Tadeu de Araújo, Paula Ricci Arantes, Nicollas Nunes Rabelo, Eberval Gadelha Figueiredo, Maria Candida Barisson Villares Fragoso
INTRODUCTION: Meningiomas are the most common primary brain and central nervous system tumors, accounting for approximately 40% of these tumors. The most important exams for the radiological study of meningiomas are computed tomography (CT) and magnetic resonance imaging (MRI). We aimed to analyze the radiological features of patients with meningioma related to the simultaneous presence of bilateral macronodular adrenocortical disease (BMAD), with or without pathogenic variants of ARMC5...
April 17, 2024: Journal of Neuro-oncology
#2
JOURNAL ARTICLE
Marcello Scala, Mariasavina Severino
Malformations of cortical development (MCDs) are a diverse group of disorders that result from abnormal neuronal migration, proliferation, and differentiation during brain development. Head computed tomography (CT) has limited use in the diagnosis of MCDs and should be reserved for selected cases with specific indications or when magnetic resonance imaging is not available or contraindicated. CT can detect brain calcifications associated with MCDs, thus helping in the differential diagnosis between acquired and genetic MCDs or in the identification of different genetic patterns...
2024: Methods in Molecular Biology
#3
JOURNAL ARTICLE
Francesc Vigués, Begoña Etcheverry, José I Perez Reggeti, Josep Maria Gaya, Angelo Territo, Andrea Gallioli, Camille Berquin, Giuseppe Basile, José F Suárez, Maria Fiol, Oscar Buisan, Lluís Riera, Thomas Prudhomme, Nicolas Doumerc, Alessio Pecoraro, Alberto Breda
BACKGROUND AND OBJECTIVE: Orthotopic kidney transplantation (KT) has been proposed as an option for patients ineligible for heterotopic KT. In this scenario, orthotopic robot-assisted KT (oRAKT) represents a novel, minimally invasive alternative to the open approach. Here we describe the largest oRAKT series of patients, with a focus on the surgical technique, perioperative surgical outcomes, and functional results. METHODS: We queried prospectively maintained databases from three referral centers to identify patients who underwent oRAKT and evaluated surgical and functional outcomes...
April 15, 2024: European Urology
#4
Neha M Chitlange, H V Sharath, Akshaya Saklecha, Sakshi Desai
The most severe form of spastic cerebral palsy (CP), which affects the arms and legs and often the face, is known as spastic quadriplegia. In addition to other developmental disabilities such as intellectual disability and seizures, it can cause difficulty in walking. Children with CP often have seizures as a result of brain injury, and spastic quadriplegic CP is typically associated with global developmental delay. For the purpose of addressing the unique motor and functional challenges associated with spastic quadriplegia, neurophysiotherapy is essential...
March 2024: Curēus
#5
JOURNAL ARTICLE
Ahmet Kursat Karaman, Kerime Hatun Özgen, Bora Korkmazer, Rauf Hamid, Hatice Kübra Yıldırım, Rahşan Kemerdere, Nil Çomunoğlu, Necmettin Tanrıöver, Serdar Arslan, Osman Kızılkılıç
BACKGROUND: Differential diagnosis of hypothalamic-optic chiasmatic gliomas (HOCGs) and craniopharyngiomas on magnetic resonance imaging (MRI) can be quite challenging. PURPOSE: To compare the MRI features of HOCGs and cranipharyngiomas. MATERIAL AND METHODS: Patients diagnosed with HOCG or craniopharyngioma in histopathological evaluation between 2012 and 2022 and who underwent preoperative contrast-enhanced brain MRI were included. Various MRI features were retrospectively evaluated for each lesion: T2-weighted imaging and fluid attenuation inversion recovery hyperintensity, calcification, cystic change, T1-weighted (T1W) imaging hyperintensity of the cystic component, hemorrhage, involvement of sellar, suprasellar or other adjacent structures, lobulated appearance, presence of hydrocephalus, and contrast enhancement pattern...
April 13, 2024: Acta Radiologica
#6
REVIEW
Xuefei Chen, Chaochun Zou
BACKGROUND: Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare inherited disorder characterized by proportionate short stature, skeletal defects, ocular and dental abnormalities, and transient hypocalcemia. It is caused by variants in FAM111A gene. Diagnosis of KCS2 can be challenging because of its similarities to other syndromes, the absence of clear hallmarks and the deficient number of genetically confirmed cases. Here, we aimed to further delineate and summarize the genotype and phenotype of KCS2, in order to get a better understanding of this rare disorder, and promote early diagnosis and intervention...
April 2024: Molecular Genetics & Genomic Medicine
#7
JOURNAL ARTICLE
Takahiro Tsuchiya, Masako Ikemura, Satoru Miyawaki, Yu Teranishi, Kenta Ohara, Tetsuo Ushiku, Nobuhito Saito
Ancient schwannoma (AS) is a subtype of schwannoma characterized by slow progression despite degenerative changes in pathology. Although it is considered a benign tumor, most previous reports have focused on extracranial AS; therefore, the clinical characteristics of intracranial AS is not clear. We included 174 patients who underwent surgery for sporadic intracranial schwannoma, and 13 patients (7.5%) were diagnosed with AS. Cysts were significantly more common in patients with AS than conventional schwannomas (92...
April 5, 2024: Brain Tumor Pathology
#8
JOURNAL ARTICLE
J W Bartstra, T van den Beukel, G Kranenburg, L J Geurts, A M den Harder, T Witkamp, J M Wolterink, J J M Zwanenburg, E van Valen, H L Koek, W P T M Mali, P A de Jong, J Hendrikse, W Spiering
BACKGROUND AND PURPOSE: Carotid siphon calcification might contribute to the high prevalence of cerebrovascular disease in pseudoxanthoma elasticum through increased arterial flow pulsatility. This study aimed to compare intracranial artery flow pulsatility, brain volumes, and small-vessel disease markers between patients with pseudoxanthoma elasticum and controls and the association between arterial calcification and pulsatility in pseudoxanthoma elasticum. MATERIALS AND METHODS: Fifty patients with pseudoxanthoma elasticum and 40 age- and sex-matched controls underwent 3T MR imaging, including 2D phase-contrast acquisitions for flow pulsatility in the assessment of ICA and MCA and FLAIR acquisitions for brain volumes, white matter lesions, and infarctions...
March 28, 2024: AJNR. American Journal of Neuroradiology
#9
JOURNAL ARTICLE
Spyros Papapetropoulos, Jeffrey M Gelfand, Takuya Konno, Takeshi Ikeuchi, Angela Pontius, Andreas Meier, Farid Foroutan, Zbigniew K Wszolek
INTRODUCTION: Because adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressive, debilitating, and ultimately fatal neurodegenerative disease, a rapid and accurate diagnosis is critical. This analysis examined the frequency of initial misdiagnosis of ALSP via comprehensive review of peer-reviewed published cases. METHODS: Data were extracted from a MEDLINE search via PubMed (January 1, 1980, through March 22, 2022) from eligible published case reports/series for patients with an ALSP diagnosis that had been confirmed by testing for the colony-stimulating factor-1 receptor gene ( CSF1R ) mutation...
2024: Frontiers in Neurology
#10
JOURNAL ARTICLE
Ru Sun, Qun Gu, Xufeng Zhang, Ruiqi Zeng, Dan Chen, Jingjing Yao, Jingjing Min
UNLABELLED: Chronic renal failure (CRF) resulting in vascular calcification, which does damage to blood vessels and endothelium, is an independent risk factor for stroke. It has been reported that cilostazol has a protective effect on the focal cerebral ischemic infarct. However, its impact on vascular injury in CRF combined stroke and its molecular protection mechanism have not been investigated. In this study, we carried out the effect of cilostazol on CRF combined stroke rats, and the results confirmed that it improved the neurobehavior, renal function as well as pathologic changes in both the kidney and brain...
April 2024: Toxicological Research
#11
Ho Xuan Tuan, Nguyen-Thi Huyen, Nguyen Duc Son, Nguyen Viet Trung, Nguyen-Thi Hai Anh, Nguyen Duy Hung, Nguyen Minh Duc
Basal ganglia germinomas (BGGs) are rare lesions. Because of the atypical features of early-stage clinical symptoms and imaging characteristics, BGGs are easily misdiagnosed with non-tumorous conditions. This article presented cases of 2 young male patients who came to the hospital due to right arm weakness. Brain Magnetic Resonance Imaging (MRI) images in the first case revealed a lobulated mixed component mass on the left basal ganglia. The solid part showed restricted diffusion on diffusion-weighted imaging, heterogeneous strong enhancement, and no signal of calcification or bleeding...
May 2024: Radiology Case Reports
#12
JOURNAL ARTICLE
Allison L Bartlett, John E Wagner, Blaise V Jones, Susanne Wells, Anthony Sabulski, Christine Fuller, Stella M Davies
Fanconi anemia (FA) is a complex inherited bone marrow failure syndrome characterized by chromosomal instability and defective DNA repair causing sensitivity to DNA interstrand cross-linking agents. Our understanding of the full adult phenotype of the disease continues to evolve, as most patients with Fanconi Anemia died of marrow failure in the first decade of life prior to more recent advances in allogeneic hematopoietic cell transplantation. Herein, we report a previously undescribed, clinically concerning, progressive neurologic syndrome in patients with FA...
March 24, 2024: Blood Advances
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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