Raras
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Síndrome de craniossinostose-dismorfia-braquidactilia
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Introdução

O que você precisa saber de cara

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Esta é uma lista de doenças que começam com a letra "C".

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

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Ossos e articulações
11 sintomas
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Face
5 sintomas
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Neurológico
5 sintomas
👁️
Olhos
4 sintomas
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Pele e cabelo
3 sintomas
👂
Ouvidos
2 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

Estrabismo
Epífise em forma de cone
Hipopigmentação do cabelo
Palma curta
Aumento da pressão intracraniana
Mácula hiperpigmentada
46sintomas
Sem dados (46)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 46 características clínicas mais associadas, ordenadas por frequência.

EstrabismoStrabismus
Epífise em forma de coneCone-shaped epiphysis
Hipopigmentação do cabeloHypopigmentation of hair
Palma curtaShort palm
Aumento da pressão intracranianaIncreased intracranial pressure

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Últimos 10 anos200publicações
Pico2026194 papers
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2025Hoje · 2026
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de craniossinostose-dismorfia-braquidactilia

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Sodium Channel Isoform Diversity Underlies Chamber-Specific Cardiac Excitability.

Circulation research2026 Mar 25

NaV (voltage-gated sodium) channels drive cardiac excitability. Although NaV1.5 is the primary cardiac isoform, the composition and functional contributions of non-NaV1.5 isoforms in the heart remain unclear. Here, we developed a chemical-genetic mouse model (NaV1.5GX/GX) in which NaV1.5 can be selectively and reversibly inhibited by acyl- and aryl-sulfonamide compounds (GX [acyl- and aryl-sulfonamide compounds typically denoted by the name GX-### and associated items] drugs). Cardiac activity was assessed by electrocardiograms in vivo, and optical mapping was used for imaging of ex vivo hearts. Whole-cell voltage-clamp in tandem with validated toxins and isoform-selective inhibitors were used to examine sodium current composition. NaV1.5GX/GX mice exhibited normal cardiac function at baseline, but acute GX drug administration caused profound conduction defects and arrhythmias. Whole-heart optical mapping revealed dose-dependent chamber-specific sensitivity to NaV1.5 inhibition, with the right ventricle being the most sensitive, followed by the left ventricle, left atrium, and right atrium. Patch-clamp recordings of isolated cardiomyocytes with application of NaV isoform-selective inhibitors showed that NaV1.5 contributed 93% of sodium current in the left ventricle, 79% in the right ventricle, and 78% in the atria. Non-NaV1.5 isoforms were differentially enriched across chambers: NaV1.8 in the left ventricle, NaV1.1/1.3 in the right ventricle, and NaV1.2/1.6/1.7 in the atria. These results reveal a surprising chamber-specific isoform landscape of cardiac sodium currents, which may underlie the right ventricular predominant phenotype of Brugada syndrome. These data highlight non-NaV1.5 isoforms as potential mediators of chamber-specific cardiac pathologies and as pharmacological targets.

#2

The Fontan Outcomes Network: Findings After 2 Years and 1121 Participants.

Circulation2026 Mar 25

Survival after Fontan palliation for single ventricle heart disease has improved substantially, yet the long-term trajectory remains poorly defined. The Fontan Outcomes Network, a learning health network of 38 congenital heart centers in the United States and Canada, was established to address this gap. We report baseline characteristics and early findings from the first 1121 participants enrolled in this prospective clinical registry. We performed a cross-sectional analysis of individuals who had undergone Fontan palliation enrolled in the Fontan Outcomes Network from August 2022 through August 2024. Demographic, clinical, imaging, procedural, and medication data were analyzed descriptively, overall and by age group (<12, 12 to <18, and ≥18 years). A total of 1121 participants were enrolled (mean age, 16.3±10.2 years; 471 [42%] female). Hypoplastic left heart syndrome (n=431 [38.5%]) and right ventricular-dominant anatomy (n=615 [54.9%]) were the most common primary cardiac diagnoses, especially in younger age groups. Extracardiac conduit was the most frequent Fontan type (n=749 [66.8%]). Typical Fontan-related adverse events were noted in 59% of cases (n=662), including chylous pleural effusions (n=108 [9.6%]), Fontan thrombosis (n=79 [7.1%]), and nonperioperative stroke (n=73 [6.5%]). A history of arrhythmia was present in 41.3% of patients (n=463) overall, increasing with age. Acquired comorbidities were present in 57.5% of patients (n=645), including asthma (n=132 [12%]) and sleep apnea (n=103 [9%]), with burden increasing by age. Antithrombotic medication use was nearly universal. Use of other medications varied widely by age, and included β-blockers, angiotensin-converting enzyme inhibitors, and pulmonary vasodilators. A clinical diagnosis of an anxiety disorder was present in 34.1% of patients (n=382), including 48.1% of adults (n=194 of 403), and antidepressants were prescribed in 11.8% of patients (n=132), including 23.6% of adults (n=95 of 403), highlighting the mental health needs of this population. The Fontan Outcomes Network includes one of the largest prospective, multi-institutional data sets of patients with Fontan circulation. These initial findings demonstrate the potential for a collaborative learning health network to advance research and quality improvement for this rare disease population.

#3

Pressure-controlled ultrasound is a novel non-invasive technique for detecting anterior chronic exertional compartment syndrome.

BMJ open sport &amp; exercise medicine2026

Chronic exertional compartment syndrome (CECS) is traditionally confirmed by intracompartmental pressure (ICP) measurement, but this test has been criticised. The aim of this study was to investigate whether leg muscle compartment compressibility using pressure-controlled ultrasound has diagnostic potential in anterior leg compartment CECS (ant-CECS). We hypothesised that, following exercise, patients with ant-CECS would demonstrate lower compartment compressibility and greater compartment thickness compared with controls. Patients with bilateral ant-CECS failing conservative treatment underwent ICP measurements of one leg and compartment compressibility analysis of the contralateral leg before and after a standardised treadmill test. Compartment compressibility was calculated as the relative reduction in distance between a superficial and deep muscle landmark at 10 mm Hg and 80 mm Hg external ultrasound probe pressure. The primary outcome was the difference in compressibility between patients with ant-CECS and healthy controls. Between February 2023 and April 2025, 635 ultrasound measurements were analysed in 36 patients (23 males, age 28 (SD 10 years)) and 35 controls (14 males, age 38 (SD 15 years)). Patients had at least one of three Pedowitz criteria confirming ant-CECS (ICP ≥15 mm Hg at rest, or ≥30 mm Hg or ≥20 mm Hg 1 and 5 min after treadmill, respectively). Compressibility in ant-CECS was lower at rest and at each time point after treadmill testing compared with controls (p<0.01). In males, a 7.8% compressibility cut-off value measured 5 min post-exercise yielded a positive predictive value of 94%. Pressure-controlled ultrasound is a novel non-invasive technique for detecting leg anterior chronic exertional compartment syndrome with promising diagnostic accuracy, particularly in males. NCT05720182.

#4

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics2026

Post-Streptococcal glomerulonephritis (PSGN) most commonly follows streptococcal infections and presents with classic features such as hematuria, proteinuria, hypertension, and transient renal dysfunction. While renal-limited disease is typical, extrarenal manifestations-particularly serosal involvement-are exceptionally rare in children. We report a rare case of an adolescent who presented with nephritic syndrome marked by hypertension, gross hematuria, proteinuria, and notably, concurrent pleural and pericardial effusions. Laboratory evaluation revealed low serum complement levels (C3 and C4), consistent with immune complex-mediated glomerulonephritis. Extensive infectious and autoimmune workups were unremarkable. The patient was managed conservatively with antihypertensives and diuretics, with complete resolution of symptoms and normalization of renal function and complement levels within four weeks. To our knowledge, serosal involvement (pleural and pericardial effusions) at initial presentation in pediatric PSGN remains extremely rare, with very few documented cases in the literature. This report contributes valuable clinical insight, emphasizing that PSGN can occasionally mimic systemic inflammatory or autoimmune conditions. Early identification and conservative management can prevent overtreatment and improve outcomes. This case underscores an unusual presentation of PSGN with serosal involvement-a manifestation reported only sporadically in literature. Recognition of such rare systemic features is crucial to avoid diagnostic delays or unnecessary immunosuppression. Supportive care alone led to favorable outcomes, reinforcing the self-limited nature of PSGN even in atypical presentations. It serves as a valuable reminder that atypical PSGN can present with multi-system inflammation, and a precise diagnostic approach integrating serology and clinical course is essential to avoid unnecessary intervention.

#5

A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.

Neurology open access2026 Mar

Individuals with Down syndrome (DS) have a very high risk for developing Alzheimer's disease (AD) due to the triplication of the amyloid precursor protein gene on chromosome 21. We describe a unique set of female monozygotic twins with Trisomy 21 and mild intellectual disability with significantly discordant rates of cognitive decline. The twins were followed longitudinally, starting at age 42, using cognitive assessments (Down Syndrome Mental Status Examination and Modified Cued Recall). Caregiver assessments included the Dementia Questionnaire for People with Learning Disabilities, National Task Group - Early Detection Screen for Dementia and the Neuropsychiatric Inventory. Blood was collected for AD biomarkers. Performance on baseline cognitive assessments was similar; however, by Timepoint 1, Twin 2 met criteria for mild cognitive impairment (MCI) and by Timepoint 2 met criteria for dementia due to AD. In contrast, Twin 1 remained cognitively stable. Caregiver assessment at baseline showed concerns about Twin 2's social skills, which remained stable across timepoints. AD protein biomarker levels were similar. Discordant cognitive decline could not be explained by clinical co-morbidities, medications, or environment, suggesting that other factors, such as epigenetics, could underlie phenotypic variability and variable risk for AD in DS and deserves further study.

Publicações recentes

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📚 EuropePMCmostrando 188

2026

"To save them we have to hurt so many other parts of them": clinician perceptions of stress in infants undergoing cardiac surgery.

Cardiology in the young
2026

Monozygotic Twins of Different Religions: Causes and Consequences/Twin Research Reviews: Language Development in Dizygotic Twins; MZ Twins with Hallermann-Streiff Syndrome; Digital Twins and Asthma Research; Zygosity Revealed/Human Interest: A Pen Turned Holocaust Children Into Twins; Identical Twin Jeopardy Winners; Twin Hostages Freed From Gaza; Loss of a Twin Son; Fraternal Twin Mountaineers; Twins in the Sydney to Hobart Yacht Race; Twin Patron Saints of Cobblers.

Twin research and human genetics : the official journal of the International Society for Twin Studies
2026

Effects of olive leaf polyphenols on blood lipid profiles and cardiovascular risk markers in healthy and at-risk populations: a narrative review.

Food &amp; function
2026

Heritability and Cardiovascular Disease in Adult Offspring of Hypertensive Disorder of Pregnancy: A Systematic Review and Meta-Analysis.

Hypertension (Dallas, Tex. : 1979)
2026

Sodium Channel Isoform Diversity Underlies Chamber-Specific Cardiac Excitability.

Circulation research
2026

The Fontan Outcomes Network: Findings After 2 Years and 1121 Participants.

Circulation
2026

ILAE dietary treatments task force special report: Maternal ketogenic diet exposure in epilepsy pregnancy registries-A call to action.

Epilepsia open
2026

Exteroceptive Reflex Myoclonus Triggered by Distal Nerve Stimulation in Anti-GAD65 Stiff-Person Syndrome.

Movement disorders clinical practice
2026

Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.

The International journal of eating disorders
2026

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

American journal of medical genetics. Part A
2026

Mechanistic Insights into SGLT2 Inhibition in Takotsubo Syndrome.

European heart journal. Cardiovascular pharmacotherapy
2026

[Recognising and treating depression - a practical overview of current treatment algorithms and evidence-based recommendations].

Therapeutische Umschau. Revue therapeutique
2026

[Sleep disorders and mental health].

Therapeutische Umschau. Revue therapeutique
2026

[Preventing dementia in an ageing society].

Therapeutische Umschau. Revue therapeutique
2026

Pressure-controlled ultrasound is a novel non-invasive technique for detecting anterior chronic exertional compartment syndrome.

BMJ open sport &amp; exercise medicine
2026

Proteolytic Imbalance of the MMP/E-Cadherin Axis in Genitourinary Syndrome of Menopause: A Cross-Sectional Study.

International journal of women's health
2026

Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients.

Neuro-oncology advances
2026

Association and Predictive Value of C-Reactive Protein-Lymphocyte-Albumin (CALLY) Index with Cardiovascular Disease in Patients with Cardiovascular-Kidney-Metabolic Syndrome Stage 3.

International journal of general medicine
2026

Factors Associated with Infertility Among Women Attending Reproductive Health Centers in Mogadishu, Somalia: A Cross-Sectional Study.

International journal of general medicine
2026

Primary hyperparathyroidism presenting with pathological fractures mimicking malignancy: a case from Tanzania.

Oxford medical case reports
2026

Charles bonnet syndrome with subsequent depression in acute angle-closure glaucoma: a case report.

Oxford medical case reports
2026

Unexpected recovery of COVID-19 related Pediatric acute liver failure in a patient with an immunosuppressive syndrome with conservative management.

Oxford medical case reports
2026

Multi-system inflammatory syndrome in a child with Crohn's disease- a diagnostic dilemma.

Oxford medical case reports
2026

Hypereosinophilic syndrome presenting as pleural and pericardial effusion in a Pediatric patient: a rare case report.

Oxford medical case reports
2026

Anti-NXP2 antibody-positive dermatomyositis presenting as systemic capillary leak syndrome with cutaneous and gastrointestinal ulcers.

Rheumatology advances in practice
2026

Social Determinants of Health as a Predictor of Psoriasis Risk: Preliminary Findings from a National Survey.

Clinical, cosmetic and investigational dermatology
2026

Case Report: Immune checkpoint inhibitor-triggered anti-Ma2 paraneoplastic encephalitis in sarcomatoid pleural mesothelioma: a fatal case.

Frontiers in oncology
2026

Patient's knowledge, attitudes, and practices toward acute coronary syndrome: a cross-sectional study.

Frontiers in cardiovascular medicine
2026

Tisdale-score-based risk stratification of QTc prolongations in hospitalized patients receiving azole antifungal therapy-a retrospective study.

Frontiers in cardiovascular medicine
2026

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics
2026

CD39 in the pathogenesis of neuro-Behçet disease: is it an immune regulator marker?

Frontiers in immunology
2026

Dysregulated NK-cell gene expression defines the enduring symptoms of long COVID-19.

Frontiers in immunology
2026

Commentary: Anti-endothelial cell antibodies in pathogenesis of vasculitis.

Frontiers in immunology
2026

SARS-CoV-2 spike S1-mediated HIF-2α activation in retinal endothelial cells suggests a mechanism contributing to post-COVID endothelial dysfunction.

Frontiers in immunology
2026

Long COVID in adults - a current review of the long-term health effects following SARS-CoV-2 infection.

Journal of health monitoring
2026

A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.

Neurology open access
2025

Human Immunodeficiency Virus Misdiagnosis in a Patient Presenting with Clinical Features of AIDS in Malawi: A Case Report.

Malawi medical journal : the journal of Medical Association of Malawi
2026

Therapeutic potential of pycnogenol: antioxidant, anti-inflammatory, immunomodulatory, antiviral, and anticancer effects.

Frontiers in pharmacology
2026

Triglyceride-glucose index and its derivatives as emerging biomarkers of insulin resistance for prognostic evaluation of cardiovascular-kidney-metabolic syndrome: mechanisms and clinical applications.

Frontiers in pharmacology
2026

Neuropsychological aspects of impulse control disorders in Parkinson's disease.

Frontiers in aging neuroscience
2026

Novel applications of machine learning and computational neuroscience models to neuroimaging in Parkinson's disease and related disorders.

Frontiers in aging neuroscience
2026

Integrative genomics reveal genetic links of chronic cough with risk factors and brain regional volumes.

ERJ open research
2026

Systemic inflammation, multi-organ injury, and acute kidney risk in psittacosis pneumonia: a biomarker-driven clinical characterization.

Frontiers in cellular and infection microbiology
2026

The Effectiveness of Non-Pharmacological Interventions in Treating Adolescents and Young Adults with Neuropsychiatric Symptoms of Long COVID: A Systematic Review and Meta-Analysis.

Neuropsychiatric disease and treatment
2026

The Effect of miR-1273d Between Chronic Childhood Stress and Positive Symptoms in Schizophrenia: A Preliminary Mediation Analysis.

Neuropsychiatric disease and treatment
2026

Nonbacterial Thrombotic Endocarditis and Mechanical Valve Thrombosis in a Patient with Antiphospholipid Syndrome.

CASE (Philadelphia, Pa.)
2026

A review of research progress of mirror therapy in peripheral nerve injury.

Frontiers in neurology
2026

Epidemiology and Short-Term Outcomes of Acute Coronary Syndrome in a Nigerian Tertiary Hospital: A Prospective Cohort Study.

Cureus
2026

Prognostic Nutritional Index (PNI) in Patients With Diabetes and Sepsis: A Cross-Sectional Study.

Cureus
2026

Trousseau's Syndrome With Non-bacterial Thrombotic Endocarditis Associated With Endometrioid Carcinoma in a Young Patient.

Cureus
2026

Termination of Longstanding Persistent Atrial Fibrillation Using a Novel Large Focal Lattice-Tip Pulsed Field Ablation Catheter: A Case Report.

Cureus
2026

Notch signaling in liver diseases: mechanistic insights and therapeutic implications.

Frontiers in cell and developmental biology
2026

Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey.

Molecular syndromology
2026

Endoscopic Creation of an Internal Enterocolonic Fistula for a Noncommunicating Bowel Loop: A Novel Minimally Invasive Approach.

ACG case reports journal
2026

Management of devastating mesenteric trauma leading to short gut syndrome.

Trauma surgery &amp; acute care open
2026

Early mortality risk prediction in severe fever with thrombocytopenia syndrome using an interpretable machine learning model based on routine clinical parameters.

Frontiers in public health
2026

Impact of Electroacupuncture on the Expression Profile of the Anterior Cingulate Cortex in a Rat Model of Irritable Bowel Syndrome Based on Transcriptome Sequencing and Bioinformatics Analysis.

Journal of pain research
2025

SOCIO-CLINICAL DEMOGRAPHICS AND RISK FACTORS FOR HEART FAILURE AT A TERTIARY HOSPITAL IN SOUTH-SOUTH NIGERIA: A CROSS-SECTIONAL STUDY.

Annals of Ibadan postgraduate medicine
2025

A PROSPECTIVE, OBSERVATIONAL STUDY ON ETIOLOGICAL SPECTRUM OF END STAGE KIDNEY DISEASE IN NORTH INDIA: DOMINANCE OF DIABETIC KIDNEY DISEASE AND EMERGING TRENDS.

Annals of Ibadan postgraduate medicine
2026

Quality of life in patients with craniofacial anomalies: personal experience and review of literature.

Medicine and pharmacy reports
2026

Severe postpartum sepsis secondary to a deep vaginal hematoma: clinical and therapeutic aspects.

Medicine and pharmacy reports
2026

The gut microbiota remodes amino acid and lipid metabolism in incomplete revascularization of CHD with phlegm-dampness syndrome: an integrated multiomics and network pharmacology study.

Frontiers in molecular biosciences
2026

Paraneoplastic neuromyelitis optica spectrum disorder with dual AQP4-IgG and CRMP5 antibodies following thymectomy: a case report.

Frontiers in neuroscience
2025

Neurorehabilitation of Visual Neglect: A Narrative Review of Approaches from A.R. Luria to Modern Clinical Protocols.

Consortium psychiatricum
2026

Chronic inflammatory activity in women with normogonadotropic anovulation complicated by subclinical thyroid dysfunction: a prospective cohort study.

Frontiers in endocrinology
2026

COVID-19 associated CKM syndrome progression in diabetic patients is linked to pancreatic beta cell dysfunction, rather than RASi use: a retrospective cohort study.

Frontiers in endocrinology
2026

Exploring the causal link between microbiota and tic disorders: a gene sequencing and Mendelian randomization approach.

PeerJ
2026

Construction and validation of a risk-prediction model for hypovolemic shock after cytoreductive surgery in patients with ovarian cancer: a retrospective study.

PeerJ
2026

Diagnosis and Management of Overlap Syndrome (COPD-OSA): Evidence, Challenges and Prospects.

Nature and science of sleep
2026

Association of the Systemic Inflammation Response Index with the One-Year All-Cause Mortality in Elderly Patients with Acute Coronary Syndrome: A Retrospective Cohort Study.

Journal of inflammation research
2026

Natural Killer/T-Cell Lymphoma-Associated Hemophagocytic lymphohistiocytosis-a Rare and Dangerous Disease.

Blood and lymphatic cancer : targets and therapy
2025

Introduction to the special issue on Down syndrome.

Dementia &amp; neuropsychologia
2026

Back pain in an adolescent: not just a sore spine!

Ecancermedicalscience
2026

At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson's disease.

BMJ neurology open
2026

Neurological implications of chimeric antigen receptor-T cell therapy.

BMJ neurology open
2026

Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.

European heart journal. Case reports
2026

Gastrointestinal Tolerance and Refeeding Syndrome in Severely Malnourished Children Treated with Oral Nutrition Supplements Compared to F-75/F-100: A Hospital-Based Randomized Controlled Pilot Trial.

Pediatric gastroenterology, hepatology &amp; nutrition
2025

Unfolded proteins and aggregates: The role of proteostasis in pseudoexfoliation pathology.

Molecular vision
2026

The therapeutic potential of jaceosidin: a comprehensive review of its effects on chronic diseases.

Immunopharmacology and immunotoxicology
2026

First Report of Pythium dissotocum and Globisporangium sylvaticum associated with Kiwifruit Vine Decline Syndrome in Italy.

Plant disease
2026

Affective neuropsychiatric symptom metrics in the National Alzheimer's Coordinating Center dataset.

Journal of Alzheimer's disease : JAD
2026

Metabolic syndrome and serum uric acid level in children and adolescents with hypertension.

Journal of hypertension
2026

Analysis of Biomarkers in Diabetic Foot Ulcer Patients With Dampness-Heat Syndrome Based on 4D-DIA Proteomics Technology.

Journal of diabetes research
2026

The Approval of Redemplo for Familial Chylomicronemia Syndrome and the Many Flavors of GalNAc-Oligonucleotides.

Nucleic acid therapeutics
2026

A cartilage-targeted IGF-1-antibody fusion protein as a new therapeutic approach for IGF-1 deficiency.

Molecular therapy : the journal of the American Society of Gene Therapy
2026

Different Laterality in Hereditary Monozygotic Twins with Duane Retraction Syndrome Type I: A Case Report.

Journal of binocular vision and ocular motility
2026

Patients With Increased Anxiety and Depression Scores Are at Greater Risk of Not Achieving a Meaningful Improvement in Patient-Reported Outcomes After Hip Arthroscopy for Femoroacetabular Impingement Syndrome.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2026

EXPRESS: The enhanced analgesic effects of electroacupuncture and repetitive transcranial magnetic stimulation on visceral pain via ventral lateral septal nucleus.

Molecular pain
2026

Tick to table: a scoping review on the global impact of alpha-gal syndrome.

Journal of medical entomology
2026

Monlunabant in adults with obesity and metabolic syndrome: Open-label extension of a phase 2a trial.

Diabetes, obesity &amp; metabolism
2026

Triglyceride-glucose index and mortality in critically ill patients with cardiovascular-kidney-metabolic syndrome stage 4.

Cardiovascular diabetology
2026

Ischemic stroke despite therapeutic anticoagulation in eosinophilic fasciitis with compartment syndrome and deep vein thrombosis: a case report.

Thrombosis journal
2026

Usability study to guide the development of a cognitive behavioral therapy mobile application for reducing irritable bowel syndrome symptoms.

BioPsychoSocial medicine
2026

Structure-based medical acupuncture for trigeminal neuralgia secondary to lateral medullary syndrome: a case report.

Journal of medical case reports
2026

Exploration of the structural diversity and distribution pattern of gangliosides and sulfatides in mouse brain tissues and biomarkers for Parkinson's Disease.

Lipids in health and disease
2026

Proportion, factors hindering, and experiences regarding cardiac screening in children with Down syndrome at Mulago National Referral Hospital: a cross-sectional multimethod study.

BMC pediatrics
2026

Association of age-stratified cytokine profiles with clinical outcomes in patients with severe fever with thrombocytopenia syndrome.

BMC infectious diseases
2026

Metformin-induced encephalopathy in a peritoneal dialysis patient: the critical role of hemodialysis in reversing lentiform fork sign: a case report.

BMC neurology
2026

Cutaneous adverse drug reactions in patients with congenital heart disease: a systematic review with focus on perioperative outcomes.

BMC cardiovascular disorders
2026

Case report: an underdiagnosed multifocal ectopic Purkinje-related premature contractions caused by SCN5A mutation.

BMC cardiovascular disorders
2026

Investigating the role of miR-192-5p as a diagnostic biomarker and the anti-inflammatory function in pediatric acute respiratory distress syndrome.

BMC immunology
2026

Dual Infection with dengue virus and infective endocarditis leading to brain abscess, multiorgan infarctions, and horner syndrome: a case report with literature review.

BMC cardiovascular disorders
2026

Identification of common genetic and molecular signatures in migraine and comorbid conditions.

The journal of headache and pain
2026

Gelsolin-3: A Novel Myelin Autoantigen in Demyelinating Guillain-Barré Syndrome.

Annals of neurology
2026

Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.

Oral diseases
2026

[18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.

Annals of clinical and translational neurology
2026

Non-invasive high-frequency oscillation ventilation versus nasal CPAP as primary respiratory support in preterm neonates ≥ 30 weeks with RDS: a non-inferiority randomized controlled trial.

European journal of pediatrics
2026

The genetics of obesity: aetiology, prevention and therapy.

Nature metabolism
2026

Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells.

EMBO reports
2026

Treatment-related modulation of visuo-vestibular integration in post-earthquake dizziness syndrome: a longitudinal virtual reality-based study.

Journal of neurology
2026

Ocimum tenuiflorum L. extracts attenuate polycystic ovarian syndrome in letrozole treated female Wistar rats through modulation of iNOS, COX-2, IL-1β and TNF-α.

Journal of molecular histology
2026

Flare of clonal hematopoiesis, TP53 expansion and prior melphalan drive post-CAR-T myeloid disorders in multiple myeloma.

Leukemia
2026

Mitochondrial dysfunction in urologic disease.

Prostate cancer and prostatic diseases
2026

Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.

Pediatric research
2026

Exome sequencing identifies known and candidate genes in hearing impairment in Cameroon.

Communications medicine
2026

Interplay between DYRK1A dosage and aneuploidy-induced neuropathology in Down syndrome.

Communications biology
2026

A lasso-based model combining miRNA and clinical variables predicts future risk of breast and ovarian cancer.

Scientific reports
2026

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

NPJ genomic medicine
2026

Regulation of physical activity and energy expenditure through Phf6 in the medial preoptic area.

Nature communications
2026

SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.

Translational psychiatry
2026

Comprehensive Assessment of Cardiovascular Risk Factors among Long-Haul Truck Drivers in South Brazil and its Impact on 3-year follow-up of Cardiovascular Events.

Journal of occupational and environmental medicine
2026

[Caring for a Patient With Rare Urachal Carcinoma and Facilitating Family Medical Decision-Making: A Case Report].

Hu li za zhi The journal of nursing
2026

Magnetic Resonance Imaging-Negative Lupus Myelitis: A Narrative Review.

Annals of Indian Academy of Neurology
2026

Safety of Concurrent Systemic Therapy and Total Skin Electron Therapy in Cutaneous T-Cell Lymphoma.

Clinical lymphoma, myeloma &amp; leukemia
2026

Short Bowel Syndrome: Adaptive Mechanisms and Management Strategies in Veterinary Patients.

The Veterinary clinics of North America. Small animal practice
2026

Triaditis in Cats: A Multifaceted Syndrome or a Convenient Label?

The Veterinary clinics of North America. Small animal practice
2026

EULAR recommendations for the management of Behçet's syndrome: 2025 update.

Annals of the rheumatic diseases
2026

[Construction and evaluation of a risk prediction model for the progression of severe pneumonia to acute respiratory distress syndrome based on the random forest algorithm].

Zhonghua wei zhong bing ji jiu yi xue
2026

Communicating Down syndrome: professional insensitivity must not bring down the parental experience.

Evidence-based nursing
2026

[Management of ocular adverse events associated with antibody-drug conjugates in the treatment of solid tumors: a consensus statement from Chinese experts (2025 edition)].

Zhonghua zhong liu za zhi [Chinese journal of oncology]
2026

Sulforaphene-Enriched Raphanus sativus L. Seed Extract Promotes Norepinephrine-Induced Thermogenesis and Weight Loss by Modulating the Interplay Between Adipocytes and Immune Cells in Adipose Tissue.

Phytotherapy research : PTR
2026

From childhood malnutrition to adult mental illness: COVID-19 and the hidden legacy of malnutrition.

BMJ global health
2026

[Expert consensus on integrated traditional Chinese and western medicine treatment of postherpetic neuralgia (2026 edition)].

Zhonghua yi xue za zhi
2026

Diagnoses Live in Relationships: Bedside Sense in the Age of Precision Medicine.

Annals of family medicine
2026

Revascularization of patients with chronic total occlusion and left ventricular systolic dysfunction.

Progress in cardiovascular diseases
2026

The selective 5-HT1A receptor biased agonist, NLX-101, corrects anomalous behavioral phenotype in a mouse model of fragile X syndrome.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2026

Dementia, depression, and heart failure: Central role of brain-derived neurotrophic factor and possible common neurobiological pathways.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2026

RNF25 confers mRNA damage tolerance by curbing activation of the integrated stress response.

Molecular cell
2026

Patterns of Response to Treatment and Outcome of Childhood Absence Epilepsy: A Multicenter Study From Saudi Arabia.

Pediatric neurology
2026

The efficacy and tolerability of lacosamide adjunctive therapy in children with drug-refractory epilepsy: A nationwide Turkish cohort study.

Epilepsy &amp; behavior : E&amp;B
2026

Metabolic syndrome in Korean older adults: Prevalence, determinants, and nursing implications.

Geriatric nursing (New York, N.Y.)
2026

Clinical, psychological and quality of life outcomes up to 12-months following thrombosis with thrombocytopenia syndrome after ChAdOx1-S (AZD1222) vaccination in Australia.

Vaccine
2026

Risk factors for post-COVID-19 condition: A case-control study in municipalities of Paraíba and Rio de Janeiro, Brazil.

The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious Diseases
2026

A single-cell and spatial transcriptomic atlas of human tuberculous constrictive pericardium.

EBioMedicine
2026

Nodding Syndrome: The Need to Strengthen Epilepsy Care in Onchocerciasis-Endemic Areas and to Investigate the Pathogenesis of Onchocerciasis-Associated Epilepsy.

The American journal of tropical medicine and hygiene
2026

Nodding Syndrome: Shifting the Focus from Cause to Treatment.

The American journal of tropical medicine and hygiene
2026

Longitudinal Associations Between Biomarkers and Frailty in Older Adults: Protocol for a Scoping Review.

JMIR research protocols
2026

Differential Factors Associated With the Presence of Persistent Symptoms in Individuals Diagnosed With Long COVID: Protocol for a Longitudinal Matched Case-Control Study.

JMIR research protocols
2026

Results From the Genetic Information and Family Testing Study: A Cluster-Randomized Trial.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
2026

Risk factor heterogeneity across cardiovascular disease outcomes in treatment-eligible hypertensive patients.

Journal of hypertension
2026

2026 Latin American consensus for the management of patients with hypertension and cardio-renal and metabolic disturbances: endorsed by the Latin American Society of Hypertension, the Iberoamerican Hypertension League, and the World Hypertension League.

Journal of hypertension
2026

MRI Assessment of Median Nerve Size in Patients with Proximate Electrodiagnostic Studies.

The Journal of bone and joint surgery. American volume
2026

Impact of Physiotherapy Intervention on Pain, Quality of Life, and Function in Low Back Pain Associated With Piriformis Syndrome: Protocol for Systematic Review.

JMIR research protocols
2026

Efficacy of heparin in respiratory support of near-term rabbits with meconium-induced acute lung injury: Linear regression model analyses.

PloS one
2026

Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.

The Journal of craniofacial surgery
2026

Cerebral Flow Dysregulation Encephalopathy Following Carotid Stenting Procedure: Multiparametric CT and EEG Characteristics.

The neurologist
2026

Neurodevelopmental and Psychiatric Outcomes in Pediatric Nonsyndromic Craniosynostosis: Insights for Plastic Surgery From a Retrospective Risk Analysis.

Annals of plastic surgery
2026

Association Between Ionized Calcium Concentrations During Weaning From Cardiopulmonary Bypass and Postoperative Low Cardiac Output Syndrome: A Retrospective Cohort Study.

Anesthesia and analgesia
2026

Clinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.

Journal of plastic surgery and hand surgery
2026

A fatal case of Munchausen syndrome by proxy in the father-daughter dyad.

Forensic science, medicine, and pathology
2026

Prevention strategies for hereditary gynaecological cancer in Lynch syndrome.

Familial cancer
2026

Early recognition of atypical hemolytic uremic syndrome to prevent irreversible kidney injury: cardiac failure and refractory hypertension as critical clues in young patients.

CEN case reports
2026

EEG power spectral and microstate analyses in the 22q11.2 deletion syndrome: from genetic risk to schizophrenia.

Journal of neural transmission (Vienna, Austria : 1996)
2026

Recurrent pancreatitis and atypical hemolytic uremic syndrome (aHUS): an unusual presentation in childhood.

Pediatric nephrology (Berlin, Germany)
2026

Intractable dialysis-associated headache: a management dilemma in pediatric hemodialysis.

Pediatric nephrology (Berlin, Germany)
2026

[Noninfectious uveitis in childhood : Clinical aspects, diagnostics, treatment and transition].

Die Ophthalmologie
2026

AS-OCT findings in Angle closure associated with Unilateral Vogt-Koyanagi-Harada syndrome.

Retina (Philadelphia, Pa.)
2026

CHARACTERIZING INTRAOCULAR LENS POSITION, STABILITY, AND IRIS MOBILITY IN EYES THAT HAVE UNDERGONE SUTURELESS INTRASCLERAL HAPTIC FIXATION.

Retina (Philadelphia, Pa.)
2026

KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes.

Epileptic disorders : international epilepsy journal with videotape
2026

The de Winter-Wellens Continuum: Evidence of Dynamic Bidirectional Coronary Collateral Flow in Acute Coronary Syndrome.

JACC. Case reports
2026

Reversible Complete Atrioventricular Block Due to Rupture of the Left Coronary Aortic Sinus.

JACC. Case reports
2026

Colchicine-Responsive Dacron Hypersensitivity After Bentall Procedure: A Rare Trigger of Diffuse Coronary Artery Disease.

JACC. Case reports
2026

Psychological Factors Predict Response to a Low Fermentable Oligo-, di-, Monosaccharide and Polyol Dietary Intervention in Irritable Bowel Syndrome: A Prospective Cohort Study.

United European gastroenterology journal
2026

Posterior pericardiotomy in J-shaped ministernotomy.

Multimedia manual of cardiothoracic surgery : MMCTS
2026

Recirculation quantified by Trans-ECMO thermodilution to predict mixed venous oxygenation during V-V ECMO: an in vivo porcine study.

Anesthesiology
2026

Why It Is Wrong to Promote Alpha-Gal Syndrome: A Response to Crutchfield and Hereth.

Bioethics
2026

Patient-specific lung simulation incorporating regional elastance and recruitment to guide mechanical ventilation in acute respiratory distress syndrome.

Journal of applied physiology (Bethesda, Md. : 1985)
2026

A meta-umbrella review of risk factors for vulvodynia: evidence from demographic, psychosocial, and biomedical domains.

The journal of sexual medicine
2026

Policy Implications of Placebo Bandage for Carpal Tunnel Syndrome.

NEJM evidence
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Wrist Splinting versus a Placebo Soft Bandage for Carpal Tunnel Syndrome.

NEJM evidence
2026

Trifurcation of the sciatic nerve. Short bifurcation of the common fibular nerve in the high gluteal region: a case study.

Folia morphologica
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Renal-Limited Cryofibrinogen-Associated Glomerulonephritis Diagnosed Using Electron Microscopy.

Nephrology (Carlton, Vic.)
2026

Clinical Characteristics and Trends of Lymphogranuloma Venereum Versus Non-LGV Chlamydia trachomatis Anorectal Infections: A Six-Year Retrospective Study.

Sexually transmitted diseases
2026

Do Patients with Antiphospholipid Syndrome Present with More Significant Venous Thromboembolic Clot Burden? A Retrospective Single-Center Study.

Hematology reports
2026

Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.

Hematology reports
2026

Nitroglycerin use in STEMI locations.

JAAPA : official journal of the American Academy of Physician Assistants
2026

Cochlear Implantation in Down Syndrome: Functional Outcomes, Challenges, and Management Strategies.

Audiology research
2026

Bedside Approach to Acute Vertigo with Spontaneous Horizontal Nystagmus: The Role of Simultaneous Ice-Water Test Stimulation and Its Correlation with the HINTS Protocol in Differentiating Peripheral and Central Etiologies.

Audiology research

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Doenças relacionadas

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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.

  1. Sodium Channel Isoform Diversity Underlies Chamber-Specific Cardiac Excitability.
    Circulation research· 2026· PMID 41878815mais citado
  2. The Fontan Outcomes Network: Findings After 2 Years and 1121 Participants.
    Circulation· 2026· PMID 41878814mais citado
  3. Pressure-controlled ultrasound is a novel non-invasive technique for detecting anterior chronic exertional compartment syndrome.
    BMJ open sport &amp; exercise medicine· 2026· PMID 41878721mais citado
  4. Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
    Frontiers in pediatrics· 2026· PMID 41878457mais citado
  5. A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.
    Neurology open access· 2026· PMID 41878379mais citado
  6. Risk Stratification in Nonischemic Dilated Cardiomyopathy Using CMR Imaging: A Systematic Review and Meta-Analysis.
    JAMA· 2024· PMID 39298146recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1535(Orphanet)
  2. MONDO:0011274(MONDO)
  3. Busca completa no PubMed(PubMed)
  4. Q55790291(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

Compêndio · Raras BR

Síndrome de craniossinostose-dismorfia-braquidactilia

ORPHA:1535 · MONDO:0011274
OMIM
602849
MedGen
Wikidata
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