Introdução
O que você precisa saber de cara
A craniossinostose, uma condição em que as suturas cranianas se fundem prematuramente e, consequentemente, alteram o formato da cabeça, é observada em diversas condições, conforme listado abaixo. O grau de envolvimento varia de acordo com a condição e pode abranger desde craniossinostose leve de sutura única até craniossinostose grave e multissutural.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de craniossinostose-calcificações intracranianas
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.
Adenosine-to-inosine RNA editing by ADAR1 prevents aberrant innate immunity activation by modifying endogenous double-stranded RNA. Mice carrying a left-handed double-stranded RNA (Z-RNA) binding-deficient mutation develop Aicardi-Goutières syndrome (AGS)-like encephalopathy, characterized by ventricular enlargement, gliosis, calcification, and white matter degeneration with a type I interferon (IFN) signature. However, the mechanisms underlying encephalopathy development remain unknown. Here, we show that pathology was most severe in periventricular regions where IFN-stimulated gene (ISG) expression was elevated and ependymal cells were lost, accompanied by higher IFN-α levels in cerebrospinal fluid than in sera. Blocking type I IFN signaling fully reversed these abnormalities, which was not achieved by deleting downstream PKR or ZBP1. Microglial elimination partially alleviated the encephalopathy without suppressing ISGs. In contrast, neuron- or astrocyte-specific ADAR1 dysfunction evoked robust ISG expression and recapitulated AGS-like encephalopathy, with astrocytic dysfunction causing particularly severe effects. These findings identify aberrant multicellular IFN signaling as the central driver of AGS-like encephalopathy.
Great debate: the new risk factor-weighted clinical likelihood model is useful to estimate the initial pre-test probability of obstructive coronary artery disease in individuals with suspected chronic coronary syndromes.
For individuals with suspected chronic coronary syndrome, the 2024 ESC guidelines recommend use of a structured estimate of the probability of obstructive coronary artery disease (CAD). This 'risk factor-weighted clinical likelihood' (RF-CL) model is recommended as the initial step after history taking and combines age, sex, symptom characteristics, and five clinical risk factors, with coronary calcification data, if available. The resulting numerical estimate indicates an initial 'pre-test probability' of obstructive CAD, that has been calibrated to provide improved accuracy compared with previous models. It can help triage patients for appropriate testing and identify individuals with a very low likelihood of obstructive CAD, for whom deferral of further diagnostic tests should be considered. Designed to assess the likelihood of obstructive CAD, the RF-CL model is not designed to predict ischaemia, which may occur in the absence of obstructive coronary disease and could account for patient symptoms. The score is easy and quick to use, with extensive external validation in contemporary populations including European, North American, and Asian cohorts. However, some have questioned the practical application of the RF-CL tool, citing challenges with the specificity and clarity of patient symptoms, definition and weighting of risk factors, as well as the other 'enrichment factors' that can enhance the likelihood. The RF-CL model is quantitative up to 45% and then becomes semi-quantitative/qualitative. For patients considered very high likelihood, with an estimated score > 85%, invasive coronary angiography is recommended, although how this score may be reached is not entirely clear. The RF-CL model undoubtedly improves the prediction of obstructive CAD and can 'de-risk' a significant number of symptomatic patients safely, reducing unnecessary testing. In the development and application of such a probability estimate, there is a need to strike a good balance between simplicity and usefulness, vs increased sensitivity at the expense of greater complexity. Here, the two sides of this Great Debate are presented, to help the reader better evaluate the practical usefulness of the new RF-CL assessment in predicting the probability of obstructive CAD.
Calcific Aortopathy in Response to Aging and Injury.
The arterial vasculature is the second most frequently calcified structure in the human body after the skeleton. Calcification of the aorta and aortic valves occurs in most individuals in westernized societies with advancing age, with abdominal aortic calcification generally preceding ascending thoracic aortic disease. In cardiac valves and the thoracic aorta, however, calcification often arises earlier in common disease contexts characterized by metabolic, mechanical, or inflammatory injury (eg, metabolic syndrome, chronic kidney disease, irradiation). In these settings, calcification frequently involves the arterial media as a histoanatomic feature, and is associated with accelerated neurocognitive decline and increased cardiovascular mortality, reflecting a form of precocious aging. The term arteriosclerosis was coined nearly 2 centuries ago to describe the calcium-mediated hardening of the aorta and conduit arteries observed at autopsy with aging. However, much of our understanding of the causes, characterization, and consequences of aortic calcium deposition has emerged only within the past decade. Features of disease biology, including engagement of innate immunity, senescence (inflammaging), and ectopic activation of osteogenic mechanisms, are consistently revealed. In this article, we briefly review the burgeoning literature, highlighting recent advances in clinical and discovery science with translational implications. Given the current trajectory, after 2 centuries of disease recognition, the next decade of innovation promises meaningful progress toward effective medical treatments to prevent and treat the clinical consequences of calcific aortopathy.
Extensive myocardial calcification following cytokine release syndrome and sepsis: a novel case report with advanced echocardiographic assessment.
Myocardial calcification is a rare complication, typically associated with chronic myocardial injury or severe metabolic disturbances. Rapid development in the setting of cytokine release syndrome (CRS) and sepsis is exceptional and, to our knowledge, has not been previously reported. We describe a 44-year-old man with acute myeloid leukaemia who developed CRS and subsequent septic shock, requiring high-dose vasopressor support and continuous renal replacement therapy. On day 70 of hospitalization, a computed tomography scan revealed extensive intramyocardial calcification of the left ventricle. Serial transthoracic echocardiography demonstrated progressive systolic dysfunction, with global longitudinal strain deteriorating from -22% to -9%, and a markedly reduced global work index (GWI 780 mmHg%), indicating impaired intrinsic contractility. Global work efficiency (GWE 96%) remained preserved. This is the first reported case of rapidly progressive myocardial calcification associated with CRS, documented using advanced non-invasive imaging modalities such as GLS and myocardial work. These techniques enabled early detection and objective assessment of functional decline in a critically ill patient, in whom conventional diagnostic options were limited.
Epilepsy and coeliac disease in children: a narrative review.
Neurological symptoms have been reported as extraintestinal manifestations (EIMs) in 3%-10% of children diagnosed with Coeliac disease (CD). Specifically, the prevalence of epilepsy has been reported to be approximately 1% in pediatric patients with CD, and this population shows an increased risk of developing epilepsy. However, there is still no comprehensive review of epidemiological data, seizure semiology, and electroencephalographic findings of epilepsy in pediatric patients with CD. We conducted a narrative review to provide the most recent data regarding prevalence of epilepsy in CD children, describe the typical seizure semiology reported in literature according to the recent classification of International League Against Epilepsy (ILAE) and illustrate the management of epilepsy in this specific population. Epidemiological data regarding the prevalence of epilepsy in CD children and vice versa are heterogenous due to different inclusion criteria considered in various studies. Overall, an increased risk of epileptic disorder in CD patients has been described in some studies. On the other hand, a higher risk of CD has been reported in children diagnosed with certain types of epileptic disorders [e.g., idiopathic generalized epilepsies]. In terms of seizure semiology, the majority of children with CD present with generalized tonic-clonic seizures or focal seizures, usually of temporal or occipital origin. However, few other patients may experience other types of seizures, such as typical and atypical absences. A subgroup of CD patients presenting with occipital seizures and occipital calcifications on neuroimaging can be diagnosed with CEC syndrome (CD, epilepsy and calcification). A different response to gluten free diet in terms of seizure control has been observed in CD patients. Clinicians should be aware of this possible neurological EIMs of CD in order to facilitate early recognition and refer patients for further investigations when required.
Publicações recentes
[Crowned Dens Syndrome Mimicking Acute Meningitis in an Elderly Patient].
Crowned dens syndrome combined with cervical disc herniation: A case report and literature review.
Painful Os Peroneum Syndrome: An Unusual Diagnosis.
[Clinical phenotype and genotype analysis of neuroinflammation, autoinflammation, splenomegaly and anemia syndrome caused by IRAK4 gene variant].
Generation of iPSCs line from patient with Singleton-Merten syndrome.
📚 EuropePMCmostrando 200
Safety, Efficacy, and Outcomes of the Modified Rotational Atherectomy Approach: A Real-World Single-Center Experience.
Indian heart journalSafety and efficacy of a novel traction balloon technique for guide-extension advancement in complex coronary interventions: a case series.
American journal of cardiovascular diseaseTRANSORAL PARA-TONSILLAR ROBOTIC APPROACH FOR EAGLE SYNDROME: A TECHNICAL NOTE AND EXEMPLIFYING CASE.
Journal of stomatology, oral and maxillofacial surgeryBiological, Radiological, and Clinical Significance of Spotty Calcification in Coronary Artery Disease: A State-of-the-Art Review.
JACC. Cardiovascular imagingLocalized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.
CureusCausal inference and mediating pathways of metabolic syndrome on calcific aortic valve stenosis: linkage disequilibrium score regression and two-sample, two-step mendelian randomization study.
Journal of cardiothoracic surgeryAberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.
Cell reportsAicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.
AJNR. American journal of neuroradiologyHyposplenism in systemic lupus erythematosus: biological and radiological characteristics and its association with increased risk of infection.
RMD openGreat debate: the new risk factor-weighted clinical likelihood model is useful to estimate the initial pre-test probability of obstructive coronary artery disease in individuals with suspected chronic coronary syndromes.
European heart journal"The Cancer that Carried the Chalk"-NXP2+ Paraneoplastic Dermatomyositis Unleashing Calcinosis Cutis and Peripheral Neuropathy.
The Journal of the Association of Physicians of India[Advantageous therapeutic pathways and mechanisms of Jianpi Huogu Formula in treating steroid-induced osteonecrosis of femoral head based on multi-source heterogeneous data integration of disease-syndrome-formula framework].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
Nephrologie & therapeutiqueCalcific Aortopathy in Response to Aging and Injury.
CirculationUnilateral port wine stain on the face: a case report and review.
Canadian journal of dental hygiene : CJDH = Journal canadien de l'hygiene dentaire : JCHDMarked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.
JBMR plusExtensive myocardial calcification following cytokine release syndrome and sepsis: a novel case report with advanced echocardiographic assessment.
European heart journal. Case reportsUsing Orbital Atherectomy in ST-Elevation Myocardial Infarction: A Case Report From a Nonsurgical Centre.
Case reports in cardiologyIdiopathic multifocal calcinosis cutis presenting in a cat with vestibular syndrome: clinical, radiographic and histopathological findings.
JFMS open reportsIntroduction of a Brain MRI Scoring System with Clinical Relevance for Sturge-Weber Syndrome.
Academic radiologyTwo-Step Clinical Pathways to Cardiovascular Mortality in Chronic Kidney Disease and Dialysis -- A Narrative Review.
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ORL; journal for oto-rhino-laryngology and its related specialtiesIn-Stent Restenosis Pathophysiology and Risk Factors: A Comprehensive Review.
Medicina (Kaunas, Lithuania)Relationship Between Mitral Annular Calcification and Inflammatory Indices in Patients with Cardiometabolic Risk Factors.
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Journal of pediatric urologyCrowned Dens Syndrome Mimicking Atlantoaxial Infection in a Patient With Systemic Sclerosis: A Case Report.
Case reports in rheumatologyEpilepsy and coeliac disease in children: a narrative review.
Frontiers in pediatricsAirway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.
The LaryngoscopeApplications of genetic testing in cardiovascular disease.
Current opinion in cardiology[Risk factor analysis of excessive resection of facet joint after large-channel spinal endoscopic depression for degenerative lumbar diseases].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryErythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.
JCI insightCase Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome.
Frontiers in pediatricsUpdate of guideline for diagnosis and treatment of subacromial pain syndrome: a multidisciplinary review by the Dutch Orthopedic Association Part 2: Operative considerations and treatment of various conditions related to subacromial pain syndrome.
Acta orthopaedicaUpdate of guideline for diagnosis and treatment of subacromial pain syndrome: a multidisciplinary review by the Dutch Orthopedic Association Part 1: preventive measures, diagnostics, and non-surgical treatment of subacromial pain syndrome.
Acta orthopaedica[Aortobifemoral bypass surgery using aortic balloon occlusion in patients with total aortic calcification].
KhirurgiiaA fast fully automated approach for evaluating calcified lesions in intravascular ultrasound.
European heart journal. Digital healthMultimodal management of hormonal and oncological progression in PTHrP-secreting pancreatic neuroendocrine tumours.
Endocrine oncology (Bristol, England)[A case report of severe hypocalcemia secondary to Fahr's syndrome].
Anales del sistema sanitario de NavarraA novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).
Molecular genetics and metabolismMultimodal imaging follow-up of a left main trunk pseudoaneurysm presenting with cardiopulmonary arrest.
European heart journal. Case reportsA simplified algorithm for management of CP/CPPS and associated entities: A summary table for general urologists.
Current urologyT1 mapping on cardiac magnetic resonance of myocardial calcification after septic shock.
Pediatrics international : official journal of the Japan Pediatric SocietyEndomyocardial calcification with pulmonary and systemic hypertension in a term neonate with multisystem inflammatory syndrome of newborn (MIS-N).
BMJ case reportsCoronary plaque volume quantification using coronary computed tomography angiography is associated with periprocedural myocardial injury in patients with chronic coronary syndrome.
Journal of cardiovascular computed tomographyCoronary Artery Calcium Score Is Associated with Steatotic Liver Disease, Fatty Pancreas, and Benign Pancreaticobiliary Disorders, Independent of Metabolic Syndrome.
Metabolic syndrome and related disordersCerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A Case Report.
AACE endocrinology and diabetesFahr Syndrome, Hypoparathyroidism and Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome.
AACE endocrinology and diabetesCoronary complexity and inflammatory burden in HIV-infected patients with acute coronary syndrome: a two-year prospective cohort study in China.
Frontiers in cardiovascular medicine[Artificial intelligence in the diagnosis and management of aortic disease: current applications and future directions].
Giornale italiano di cardiologia (2006)Fahr's Syndrome Secondary to Hypoparathyroidism Presenting With Neurological and Cardiac Manifestations.
CureusBasal Ganglia Calcification Secondary to Postsurgical Hypoparathyroidism Presenting With Seizures and Acute Confusion: A Case Report (Fahr Syndrome).
CureusDisease-modifying effects of iron deficiency in mouse models of chronic renal failure.
Blood. Red cells & ironLiterature review of leukoencephalopathy with calcifications and cysts and a case report.
Frontiers in neuroscienceAtypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.
Neuropathology : official journal of the Japanese Society of NeuropathologyChinese medicine and intermittent fasting integration therapy attenuate diabetic vascular calcification via miR21-5p/Tpm1-mediated osteogenic differentiation of VSMCs.
Acta pharmaceutica Sinica. BClinical Approach to Medullary Thyroid Carcinoma in Pregnancy: Experience and Review of the Literature.
JCEM case reportsRNF 213 positive Moyamoya angiopathy with sporadic idiopathic basal ganglia calcification: a rare association.
Acta neurologica BelgicaBeyond the breast: Mammographic manifestations of systemic disease.
Current problems in diagnostic radiologyBlocking Sphingosine 1-phosphate Metabolism With Fingolimod Prevents the Progression of Vascular Smooth Muscle Cells Calcification in Chronic Kidney Disease.
Journal of cellular physiologyMultimodal imaging of acquired aortic diseases: clinical efficacy, comparative analysis, and future perspectives.
The international journal of cardiovascular imagingClinical Care for Patients With Elevated Lipoprotein(a) Level in Canada: A Practical Framework for Screening, Risk Assessment, and Management.
The Canadian journal of cardiologyTargeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.
Calcified tissue internationalPercutaneous coronary intervention employing a double drug-eluting stent sandwich strategy for a right coronary artery aneurysm with severe calcified stenosis: a case report.
BMC cardiovascular disordersAssociation of NXP2 autoantibodies with a more severe clinical phenotype of juvenile dermatomyositis.
Clinical and experimental rheumatologyAortoiliac and superior mesenteric artery narrowing and calcification in Singleton Merten syndrome.
Radiology case reportsBasal Ganglia Calcifications for Nephrologists: Fahr/Primary Familial Brain Calcification (PFBC) at the Interface of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) and Hypoparathyroidism.
CureusCoronary CT Angiography in Acute Coronary Syndrome and Analysis of Factors That Influence This Assessment.
KardiologiiaRare systemic artery lesions due to Kawasaki disease diagnosed in adults: a review of the literature on abdominal aortic aneurysms and renovascular hypertension.
Cardiology in the youngOccipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.
Clinical case reportsStandardized ultrasound assessment with a classification system in greater trochanteric pain syndrome: a pilot study.
Quantitative imaging in medicine and surgeryGreyscale, colour Doppler and oscillometric macroangiopathy indices in patients with autoinflammatory syndromes: the INFLAMMACARD cohort.
Rheumatology (Oxford, England)Phosphate and Inflammation in Health and Kidney Disease.
International journal of molecular sciencesFatal West Nile Encephalomyelitis in a Young Woman with Hypoparathyroidism and Sjögren's Syndrome. Molecular Insights into Viral Neuro-Invasivity.
International journal of molecular sciencesBicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Diagnostics (Basel, Switzerland)Primary cortical neurons precipitate and extrude large mitochondria-associated calcium-phosphate sheets with a bone-precursor-like ultrastructure.
Molecular brainAssociation of Coronary Vasculitis Sequelae With Atherosclerosis in Adults With a History of Kawasaki Disease: Autopsy Pathological Findings.
Arteriosclerosis, thrombosis, and vascular biologyOne mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.
Rheumatology (Oxford, England)Clinical Profiles of Psoriasis Patients With Coronary Artery Calcification and Assessment of Acute Coronary Syndrome Risk Factors Using Coronary Computed Tomography Angiography-Estimated Fractional Flow Reserve.
The Journal of dermatologyA Western Diet High in Phosphate Primes the Development of the CKD-Mineral Bone Disorder in an Alport Syndrome Model.
Kidney360Expanding the clinicopathological spectrum of nevoid basal cell carcinoma syndrome associated with odontogenic keratocyst in the Indian population: an institutional experience of 39 cases and review of the literature.
International journal of oral and maxillofacial surgeryAtypical Calciphylaxis Following Parathyroidectomy and Persistent Severe Hypocalcemia in a Hemodialysis Patient: A Case Report.
CureusBilateral Cerebral Calcifications in Secondary Fahr's Syndrome.
Case reports in neurological medicineClinical Validation of a Fast MRI Method to Evaluate Brain Vascular and Parenchymal Abnormalities in Sturge-Weber Syndrome.
Journal of magnetic resonance imaging : JMRIUnexpected Diagnosis of Fahr's Disease in a Patient with Severe Obesity and a Heterozygotic Variant in the TMEM67 Gene.
GenesPrevalence and Underreporting of Crowned Dens Syndrome-Associated Calcifications on Cervical Spine CT in Patients with Neck Pain.
Journal of clinical medicineCharacterization of 843 children with Zika-related microcephaly in the first three years of life: An individual participant data meta-analysis of 12 cohorts in the Zika Brazilian Cohorts consortium.
PLOS global public healthIncremental Value of Non-Gated Chest CT Coronary Artery Calcium Score in Predicting Major Adverse Cardiovascular Events by GRACE Score After Percutaneous Coronary Intervention in Patients With Acute Coronary Syndrome.
Clinical cardiologyBasal Ganglia Calcifications With Acute Behavioral Changes: A Case of Fahr's Syndrome.
CureusRole of endothelial shear stress metrics in the development and eruption of coronary calcified nodules.
International journal of cardiologyA Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome.
CureusBeyond Traditional Risk Factors: Inflammation, Asymmetric Dimethylarginine, and N-Terminal pro-B-Type Natriuretic Peptide Predict Cardiovascular Risk in Chronic Kidney Disease.
CureusRepurposing osteoporosis medications for other diseases: a narrative review by the European Calcified Tissue Society (ECTS).
BoneDemographic and clinicopathological analysis of odontogenic keratocyst: A retrospective study.
The Malaysian journal of pathologyFahr syndrome associated with hypoparathyroidism: Case report.
MedicineWhen teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.
The Pan African medical journalConstrictive Pericarditis with Caseous Necrosis: A Rare and Underrecognized Presentation.
Arquivos brasileiros de cardiologia[Crowned Dens Syndrome Mimicking Acute Meningitis in an Elderly Patient].
Revista medica de ChileFahr's syndrome: Evaluation of bilateral basal ganglia and calcifications in other brain regions: A report of 3 cases.
Radiology case reportsExploring the association between insulin resistance and diffuse idiopathic skeletal hyperostosis: a cross-sectional observational study.
The spine journal : official journal of the North American Spine SocietyType 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up.
Frontiers in geneticsPeriarticular Soft Tissue Disorders: Enthesopathies, Tendinopathies, and Bursitis-Pathophysiology and Radiotherapeutic Approaches.
Seminars in radiation oncologyIntravascular lithotripsy with or without rotational atherectomy for coronary calcific nodule treatment.
Cardiovascular revascularization medicine : including molecular interventionsA Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.
Clinical geneticsLipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.
Journal of inherited metabolic diseaseDiagnosing Dysphagia in Forestier Syndrome: A Dynamic Digital Radiology Application.
Diagnostics (Basel, Switzerland)Anatomical vs Physiological Lesion Characteristics in Prediction of Acute Coronary Syndrome.
JACC. Cardiovascular interventionsCharacterizing Paratesticular Neoplasms in Proteus Syndrome.
The American journal of surgical pathologyPosterior scleritis in an 18-year-old female with primary familial brain calcification syndrome: Incidental finding or association?
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyType 3 Sturge-Weber Syndrome Presenting With Concurrent Epilepsy and Migraine.
CureusStent-Free PCI With OCT-Guided Drug-Coated Balloon Angioplasty for Calcified Coronary Stenosis After Kawasaki Disease.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsEvaluation of individual and composite CT-based markers in frailty diagnostics in older patients with cancer undergoing major abdominal surgery.
BMC geriatricsTuberculosis Effusive-Constrictive Pericarditis.
JACC. Case reportsSevere cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report.
Frontiers in cardiovascular medicineNot Just a Birthmark: A Case Report of a Subtle Port-Wine Stain Heralding Sturge-Weber Syndrome.
CureusCalcified mass attached to mitral valve chordae tendineae in a dog with hyperadrenocorticism: A case report.
BMC veterinary researchMalnutrition and sarcopenia: a combined risk factor for vascular calcification and cardiovascular events in hemodialysis patients.
Frontiers in nutritionEchoes of Scleroderma: A Case Report Unmasking CREST (Calcinosis, Raynaud's Phenomenon, Oesophageal Dysmotility, Sclerodactyly, and Telangiectasia) Syndrome With Point-of-Care Ultrasound in Acute Medicine.
CureusLongitudinal Neuroimaging of a Pediatric Patient With Sturge-Weber Syndrome: From Birth to Adolescence.
CureusBasal Ganglia Calcification With Treatment-Resistant Hypocalcaemia and Persistent Psychosis in an 18-Year-Old: A Case Report.
CureusSilent stone: Idiopathic presentation of Fahr's disease.
SAGE open medical case reportsPseudohypoparathyroidism Presenting With Recurrent Twitching: Challenges Making a Diagnosis in a Low-Resource Environment.
Case reports in endocrinologyEfficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome-A case report.
Journal of diabetes investigationCoronary Artery Calcium Score Is Associated with Acute Pancreatitis Independent of Metabolic Syndrome.
Metabolic syndrome and related disordersLeukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.
Rare (Amsterdam, Netherlands)Birt-Hogg-Dubé: CT characteristics of renal tumors in a rare syndrome.
Abdominal radiology (New York)Adipokines and Vascular Modulators in CKM: Emerging Biomarkers as Diagnostic and Therapeutic Targets.
International journal of molecular sciencesIs there histological evidence supporting capsulectomy in patients with breast implant illness: A case-control study.
Journal of plastic, reconstructive & aesthetic surgery : JPRASElevated cardiovascular risk in people with HIV: the association with coronary artery calcification and endothelial dysfunction.
AIDS (London, England)Diagnostic accuracy of panoramic radiography in detecting styloid process elongation: a cone-beam computed tomography referenced retrospective study.
BMC oral healthClinical and Molecular Study of a Gorlin Syndrome Type 1 Case.
Advances in experimental medicine and biologyCrowned dens syndrome combined with cervical disc herniation: A case report and literature review.
MedicinePredictive Models for Stylohyoid Complex Elongation: A Multivariate Statistical Analysis with Evidence-Based Diagnostic Criteria.
Journal of clinical and experimental dentistryFAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.
Matrix biology : journal of the International Society for Matrix BiologyChronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.
Experimental neurologyExpanding the Phenotype Spectrum of β-Mannosidosis.
Neurology. GeneticsPredictive value of plaque features quantified by coronary CT angiography for periprocedural myocardial infarction in Non-ST-Segment elevation acute coronary syndrome.
The international journal of cardiovascular imagingMyocardial calcification revealed by postmortem computed tomography in a case of infantile myocardial ischemia caused by anomalous origin of the left coronary artery from the pulmonary artery.
Legal medicine (Tokyo, Japan)Managing Dialysis-Associated Haemodynamic Instability in Critical Calcific Left Main Stem Disease With Tachycardia-Bradycardia Syndrome Using Intravascular Lithotripsy-Assisted Percutaneous Coronary Intervention and Permanent Pacemaker Implantation.
CureusThe Heart's Small Molecules: The Importance of MicroRNAs in Cardiovascular Health.
Journal of clinical medicineAssociation of albumin with coronary plaque characteristics in patients with acute coronary syndrome: An optical coherence tomography study.
Heart & lung : the journal of critical careImaging Features of Amyloid of the Breast: Review of 94 Cases From the Literature and 6 New Cases.
Journal of breast imagingPredictors of long-term atrial fibrillation following percutaneous coronary intervention in acute coronary syndrome.
Scientific reportsUSP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review.
Clinical dysmorphologyTotal Pancreatectomy and Islet Autotransplantation for Chronic Pancreatitis Relieves Pain and Mitigates Diabetes Development.
WMJ : official publication of the State Medical Society of WisconsinUpper extremity deep vein thrombosis associated with systemic lupus erythematosus and antiphospholipid syndrome.
Journal of general and family medicineOperationalizing vascular frailty: structural and functional vascular ageing as determinants of geriatric phenotypes.
Journal of the Formosan Medical Association = Taiwan yi zhiEagle syndrome as a rare cause of recurrent neck pain: a case report.
Archives of craniofacial surgeryTreatment of Refractory Pruritic Dermatitis in the Setting of Primary Biliary Cholangitis and CREST Syndrome With Upadacitinib.
Journal of drugs in dermatology : JDDCalcinosis Cutis in Triple Overlap Syndrome.
Deutsches Arzteblatt internationalBasal ganglia calcifications and hypocalcemic seizure in an adolescent with late-diagnosed DiGeorge syndrome.
Pediatrics and neonatologySpontaneous Cervical Epidural Hematoma Mimicking Crowned Dens Syndrome: A Case Report.
CureusManaging anticoagulation in a patient with Calciphylaxis and mechanical valve: a therapeutic dilemma.
Oxford medical case reportsFLCN-mutated eosinophilic renal tumors: clinicopathologic and molecular analysis of five cases highlighting morphologic heterogeneity.
Virchows Archiv : an international journal of pathologyHypercalcemia of Down Syndrome.
JCEM case reportsAdult-Onset Neurological Deterioration in Dravet Syndrome Associated With a Novel SCN1A Missense Variant (p.Gly1371Asp): A Case Report.
CureusThe role of calcium serum level in clinical manifestation and progress of psoriasis vulgaris in a patient with Fahr's syndrome.
Dermatology reportsImmune mechanisms in chronic kidney disease-mineral and bone disorder: current insights and therapeutic implications.
Frontiers in medicineDiagnostic yield of referring patients for invasive coronary angiography primarily based on high CAC scores: Positive predictive value for obstructive coronary artery disease in a consecutive real-life cohort.
International journal of cardiologyBeyond the leptomeningeal angioma: a comprehensive review of MR imaging features of Sturge-Weber Syndrome, from early vascular responses to tissue necrosis.
Pediatric radiologyClinical and Technical Predictors of Adverse Cardiovascular Events Following Coronary Lithotripsy in the BENELUX-IVL Registry.
The American journal of cardiologyST-elevation myocardial infarction caused by plaque erosion in a 23-year-old male.
Journal of cardiology casesImplications of computed tomography reconstruction algorithms on coronary atheroma composition: A head-to-head comparison with multimodality near-infrared spectroscopy intravascular ultrasound imaging.
Journal of cardiovascular computed tomography[Aicardi-Goutières syndrome with atypical presentation: RNASEH2B gene mutation in an infant without microcephaly or intracranial calcifications (a case report)].
The Pan African medical journalGardner Fibroma Presenting as a Suspected Encephalocele: A Case Report and Literature Review.
CureusClinical Outcomes Following Percutaneous Coronary Intervention With Drug-Eluting Stents and Drug-Coated Balloons in Lesion With Eruptive Calcified Nodules.
The American journal of cardiologyIdiopathic Sclerochoroidal Calcification With a Concurrent COL11A2 Variant: A Case Report.
CureusVariable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
European journal of human genetics : EJHGHave no fear, IR is here: A case of right brachiocephalic vein /svc recanalization for port placement.
Radiology case reportsAssociations between systemic inflammation response index and abdominal aortic calcification: a cross-sectional study.
Scientific reportsCalcified Nodules: Pathology, Mechanisms, and Clinical Challenges.
Current cardiology reportsBreathe easy, baby, breathe. Lung ultrasound in neonatal critical care.
Frontiers in pediatricsCalcific Changes in an End-Stage Kidney following Long-Term Dialysis, Tertiary Hyperparathyroidism, and Treatment for Complement-Mediated Thrombotic Microangiopathy: A Case Report.
Glomerular diseasesFrom exposure to neurotoxicity induced by micro-nanoplastics with brain accumulation and cognitive decline.
Ecotoxicology and environmental safetyAcute Occlusion of Right Coronary Artery During Transcatheter Aortic Valve Replacement of a Bicuspid Valve.
JACC. Case reports"RotaTripsy" as State-of-the-Art Strategy for Coronary Artery Calcification: A Scoping Review.
Cardiovascular therapeuticsClinical spectrum of cervical involvement in calcium pyrophosphate deposition disease.
ARP rheumatologyDiagnostic Challenges in Fahr's Disease: A Rare Case of Extensive Basal Ganglia Calcifications.
CureusUltrasound-Guided Prolotherapy for Sciatica Secondary to Sacrospinous Ligament Calcification: A Potential and Previously Overlooked Etiological Factor in Deep Gluteal Syndrome-A Case Report and Literature Review.
Life (Basel, Switzerland)Calcium Hides the Clue: Unraveling the Diagnostic Value of Coronary Calcium Scoring in Cardiac Arrest Survivors.
Journal of personalized medicinePulmonary calcified nodules and cysts as the initial presentation of Sjögren's syndrome secondary nodular pulmonary amyloidosis: a rare case report.
BMC pulmonary medicineConfirmation bias in medical referrals: an unusual presentation of pain at the base of the skull.
BMJ case reportsAssociation between different insulin resistance surrogates and severe abdominal aortic calcification: A cross‑sectional study.
MedicineAdult-onset asymmetric pallido-pyramidal syndrome due to hereditary diffuse leukoencephalopathy with spheroids.
Parkinsonism & related disordersIntravascular Large B-Cell Lymphoma Presenting as Systemic Capillary Leak Syndrome With Immunological Phenomena: A Case Report.
Case reports in hematologyAdolescent-onset primary brain calcification: a case report presenting with neuropsychiatric symptoms.
NeurocasePlaque fissure and calcified nodule: histopathological findings.
European heart journalEffect of metabolic syndrome on coronary artery atherosclerotic plaque in type 2 diabetes mellitus patients.
Frontiers in endocrinologyBeyond Glycemic Control: Glucagon-Like Peptide-1 Receptor Agonists as Potential Modifiers of Aortic Disease.
Cardiology in reviewPearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.
NeurologyStone, paper… seizure? A case report of hypocalcemic seizures worsened by anti-seizure medications.
The American journal of emergency medicineUSP18 Deficiency Presenting as Severe Neonatal Encephalopathy: A Case Report and Review of Pseudo-TORCH Syndromes.
CureusSeizures and hypoparathyroidism post-thyroidectomy: Fahr's syndrome.
BMJ case reportsEntheseal structural damage according to OMERACT definitions unveils distinct ultrasound phenotypes in SpA: findings from the DEUS multicentre study.
Seminars in arthritis and rheumatismSignificance of aortic arch calcification as a cardiovascular risk marker: analysis of a cohort of hospitalized patients in internal medicine.
Revista clinica espanolaFuelling aortic stenosis: the integral role of 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3-mediated glycolysis in Lp(a)-induced valve inflammation.
European heart journal openInterplay between endocrine disorders and liver dysfunction: Mechanisms of damage and therapeutic approaches.
World journal of gastroenterologyPseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights.
Frontiers in geneticsSurgical Aortic Valve Replacement Combined With Coronary Artery Bypass Grafting in a Patient With Progeria.
JACC. Case reportsOCT-Based Morphological Classification of Healed Coronary Plaques: Insights from Imaging of Fresh Thrombi at Different Stages of Healing and Implications for Post-Stenting Edge Dissections.
Medicina (Kaunas, Lithuania)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.
- Great debate: the new risk factor-weighted clinical likelihood model is useful to estimate the initial pre-test probability of obstructive coronary artery disease in individuals with suspected chronic coronary syndromes.
- Calcific Aortopathy in Response to Aging and Injury.
- Extensive myocardial calcification following cytokine release syndrome and sepsis: a novel case report with advanced echocardiographic assessment.
- Epilepsy and coeliac disease in children: a narrative review.
- [Crowned Dens Syndrome Mimicking Acute Meningitis in an Elderly Patient].
- Crowned dens syndrome combined with cervical disc herniation: A case report and literature review.
- Painful Os Peroneum Syndrome: An Unusual Diagnosis.
- [Clinical phenotype and genotype analysis of neuroinflammation, autoinflammation, splenomegaly and anemia syndrome caused by IRAK4 gene variant].
- Generation of iPSCs line from patient with Singleton-Merten syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:52054(Orphanet)
- MONDO:0012035(MONDO)
- GARD:16653(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55783579(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
