Raras
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Síndrome NEVADA
ORPHA:370059CID-10 · Q84.8DOENÇA RARA

Direitos dos trabalhadores do sexo abrangem uma variedade de objetivos perseguidos globalmente por indivíduos e organizações que envolvem especificamente os Direitos humanos, o Direito à saúde e os Direitos trabalhistas dos trabalhadores do sexo e de seus clientes.

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Introdução

O que você precisa saber de cara

📋

Síndrome NEVADA é uma doença genética rara caracterizada por deficiência intelectual, atraso no desenvolvimento e características faciais distintas. Pode apresentar também problemas de visão e audição.

Publicações científicas
3.653 artigos
Último publicado: 2026 Apr 17
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q84.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Anos de pesquisa4
Total histórico3.653PubMed
Últimos 10 anos200publicações
Pico202583 papers
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2022Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Tratamento e manejo

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

🇧🇷 Atendimento SUS — Síndrome NEVADA

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Post-Coronavirus Disease (COVID)-19 Irritable Bowel Syndrome: What We've Learned So Far.

Neurogastroenterology and motility2026 Jan

The COVID-19 pandemic has unveiled a hidden epidemic of disorders of gut-brain interaction (DGBIs), notably post-infection irritable bowel syndrome (PI-IBS), driven by SARS-CoV-2 GI tropism and pandemic stressors. This review synthesizes and critically appraises current evidence on the prevalence, clinical spectrum, and predictors of post-COVID-19 IBS, integrating mechanistic insights. Topics discussed in this review will advance understanding of pathophysiological mechanisms, identify therapeutic targets, inform phenotype-tailored management and clinical care, and outline research priorities for post-COVID-19 IBS. A narrative review was performed by the authors. Recent evidence indicates that approximately 7.2% of individuals develop IBS after SARS-CoV-2 infection, with 2.6-fold higher odds vs. non-infected controls. At the population level, a nationally representative U.S. survey (> 160,000 adults) showed a pandemic-era surge in IBS prevalence (predominantly IBS-M) and a modest increase in chronic idiopathic constipation (CIC), while other Rome IV DGBIs remained stable. Mechanisms are multifactorial, involving ACE2-linked epithelial/neuromuscular effects, persistent low-grade inflammation, microbiota dysbiosis with reduced short-chain fatty acids, altered serotonin signaling, barrier dysfunction, and psychosocial stress acting along the gut-brain axis. Emerging data indicate dyspnea and depression further mediate the COVID-19-to-IBS pathway, underscoring biopsychosocial endotypes. This review indicates that following infection with SARS-CoV-2, DGBI, particularly IBS, occurs in 7.2% patients on follow-up. Clinically, a positive diagnosis framework and phenotype-tailored, multidisciplinary care are recommended. Future studies on post-infection IBS including post-COVID-19 IBS should be undertaken using upcoming Rome V criteria, controlling for confounding factors, and defining mechanistic endotypes to unlock precision therapies.

#2

Tinengotinib for adults with advanced or metastatic cholangiocarcinoma: a multicentre, open-label, phase 2 trial.

The lancet. Gastroenterology & hepatology2026 Feb

Cholangiocarcinoma is a rare, aggressive cancer often driven by FGFR2 fusions, which are targetable with inhibitors such as pemigatinib and futibatinib. However, resistance frequently develops due to acquired FGFR2 mutations. In this study, we aimed to evaluate the efficacy and safety of tinengotinib in previously treated patients with advanced cholangiocarcinoma. This open-label, multicentre, phase 2 trial was done at 32 medical centres in the USA. Eligible patients were aged 18 years or older with advanced or metastatic cholangiocarcinoma, who had previous systemic chemotherapy, and an Eastern Cooperative Oncology Group score of 0-1. Patients were assigned to one of four cohorts on the basis of FGFR status: cohort A1, FGFR2 fusions with primary FGFR inhibitor resistance; cohort A2, FGFR2 fusions with acquired FGFR inhibitor resistance; cohort B, other FGFR alterations; or cohort C, FGFR wild-type. Patints orally self-administered tinengotinib 10 mg daily in 28-day cycles in 28-day treatment cycles until documented disease progression, unacceptable toxicity, or withdrawal of consent. The primary endpoint was objective response rate as per investigator assessment, defined as the proportion of patients with confirmed tumour response (complete response or partial response) that was redocumented 4 weeks or after initial assessment based on RECIST (version 1.1), as assessed by the investigator. The primary endpoint was assessed in the in the efficacy evaluable population, which included all patients who received at least one dose of tinengotinib, had measurable disease at baseline, and had at least one post-baseline tumour assessment. Safety assessed in all patients who received at least one dose of tinengotinib. This trial is registered with ClinicalTrials.gov, NCT04919642, and enrolment is complete. Between Nov 19, 2021, and March 5, 2024, 55 patients were enrolled and assigned to one of four cohorts (cohort A1 [n=18], cohort A2 [n=11], cohort B [n=13], and cohort C [n=13]); all received tinengotinib. Patients had a median age of 61 years (IQR 56-68); 31 (56%) patients were female. All patients had received at least one previous systemic therapy. Median follow-up was 11·3 months (IQR 6·5-17·3). Among 51 patients included in the efficacy evaluable set, the objective response rate was 6·3% (95% CI 0·2-30·2; one confirmed partial response) in cohort A1, 30·0% (6·7-65·3; three confirmed partial responses) in cohort A2, 23·1% (5·0-53·8; three confirmed partial responses) in cohort B, and 0% in cohort C. Grade 3 treatment-related adverse events included hypertension in 17 (31%) of 55 patients, palmar-plantar erythrodysesthesia syndrome in seven (13%) patients, and stomatitis in six (11%) patients. Grade 4 treatment-related adverse events occurred in two (4%) of 55 patients (increased lipase [n=1] and posterior reversible encephalopathy syndrome [n=1]); no grade 5 treatment-related adverse events were reported. These findings suggest that tinengotinib might have activity in patients with cholangiocarcinoma with FGFR2 fusions that progressed following FGFR inhibitor therapy. Anti-tumour activity was also observed in patients with other FGFR alterations. The data from this phase 2 study supported the initiation of a phase 3 registration trial. TransThera Sciences.

#3

A Neonatal Transfer from Birth Center to Hospital with a Postpartum Hemorrhage During Transport.

Journal of midwifery & women's health2026 Mar 20

There is increasing interest from women and birthing people for midwifery-led care with community birth options in birth centers and for home birth. Birth centers are a high-value and high-quality option for place of birth and also address the increasing need to provide access to perinatal care for women in maternity care deserts. This case report reviews the transfer of a postpartum patient and her newborn from an accredited, freestanding birth center to the designated hospital. The reasons for transfer were neonatal respiratory distress with hypoxemia and an emergent postpartum hemorrhage that was initially reported as a stable maternal transfer to be admitted with the neonate. The newborn was treated for meconium aspiration syndrome in the neonatal intensive care unit while the patient was treated for uterine atony and a cervical laceration as the causes of the postpartum hemorrhage. This case review demonstrates the importance of efficient hospital transfers with skilled care for perinatal emergencies during transport, effective interprofessional collaboration, and quality improvement actions for complications that required transfer to the hospital for treatment. This case review emphasizes the importance of accurate and prioritized communication within the birth center team and between emergency services and receiving hospital clinicians as dynamic changes in patient status occur. The clinical reasons for transfer, along with the transfer process, must be examined for areas of improvement when emergent medical complexity necessitates a hospital transfer for medically matched treatment.

#4

Simultaneous Management of May-Thurner Syndrome and Spigelian Hernia: A Case Report.

The American journal of case reports2026 Mar 20

BACKGROUND A Spigelian hernia is a ventral hernia that occurs through the Spigelian fascia, formed by the aponeuroses of the transversus abdominis and internal oblique muscles; it may contain peritoneum or abdominal contents. This report describes an older woman who exhibited left leg swelling and intermittent right lower abdominal pain due to compression and thrombosis of the left common iliac vein by an overriding right common iliac artery (May-Thurner syndrome), in conjunction with a right-sided Spigelian hernia. CASE REPORT A 63-year-old woman presented with left leg swelling and intermittent right lower abdominal pain. She initially developed left lower extremity edema, for which percutaneous intervention was performed to treat venous obstruction. During the same admission, she experienced bowel obstruction and right lower quadrant abdominal pain, leading to a diagnosis of incarcerated Spigelian hernia. Computed tomography revealed a non-occlusive thrombus of the left iliac vein consistent with May-Thurner syndrome, as well as a right-sided Spigelian hernia containing obstructed, dilated small bowel loops. The patient underwent endovascular thrombectomy and stenting of the left iliac vein, followed by laparoscopic mesh repair of the Spigelian hernia. Both procedures were completed without complications. CONCLUSIONS This case illustrates the simultaneous occurrence of left common iliac deep vein thrombosis secondary to May-Thurner syndrome and a Spigelian hernia associated with obstructive symptoms. Successful diagnosis and management of these rare conditions were achieved through interdisciplinary collaboration, advanced imaging, and minimally invasive intervention.

#5

Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.

Journal of arrhythmia2026 Feb

J-wave syndromes (JWS)-comprising Brugada syndrome (BrS) and early repolarization syndrome (ERS)-are important causes of malignant ventricular arrhythmias and sudden cardiac death in patients whose hearts appear structurally normal. Since the 2016 consensus, advances in genetics, pathophysiology, and therapy have redefined both understanding and management. BrS, once viewed as a purely electrical disorder, is now recognized along a microstructural-electrical continuum, with sodium-channel dysfunction and subtle epicardial fibrosis of the right ventricular outflow tract as key contributors. Likewise, ERS-historically considered benign-carries significant risk when inferolateral J-waves coexist with arrhythmic events. Genetically, SCN5A remains the sole gene with definitive disease association, while polygenic susceptibility materially modulates risk, underscoring complex inheritance. Risk stratification remains challenging: patients with prior cardiac arrest or arrhythmic syncope are highest risk, whereas asymptomatic individuals warrant multiparametric assessment integrating clinical features, ECG markers, electrophysiologic studies, and genetics. For decades, treatment centered on implantable cardioverter-defibrillators and quinidine, both limited by availability, tolerance, and device complications. More recently, epicardial substrate ablation has emerged as a transformative therapy, with large registries and randomized trials demonstrating durable suppression of ventricular fibrillation and acceptable safety. This APHRS-organized international consensus updates and extends the 2016 Expert Consensus and the 2022 ESC Guidelines, providing contemporary diagnostic frameworks, pragmatic risk-stratification tools, and treatment algorithms for BrS and ERS. It emphasizes JWS as a microstructural-electrical disease spectrum and elevates substrate ablation as a major therapeutic advance, while outlining priorities for genetics, risk-stratification and treatment algorithms.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Management of devastating mesenteric trauma leading to short gut syndrome.

Trauma surgery & acute care open
2026

A Neonatal Transfer from Birth Center to Hospital with a Postpartum Hemorrhage During Transport.

Journal of midwifery & women's health
2026

Simultaneous Management of May-Thurner Syndrome and Spigelian Hernia: A Case Report.

The American journal of case reports
2025

Effects of supplementation with two probiotic strains on metabolic profile, hormonal status, oxidative stress, and quality of life in women with polycystic ovary syndrome: A study protocol for a randomized clinical trial.

International journal of reproductive biomedicine
2026

Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.

Journal of arrhythmia
2026

Diet, nutrition, and hormone therapy for prostate cancer: a systematic review with implications for future interventions.

JNCI cancer spectrum
2026

Subacute High-Grade Ulnar Neuropathy Without Trauma: A Case of Cubital Tunnel Syndrome.

Cureus
2026

Genomic signatures of reproductive isolation are decoupled from floral divergence in a long-standing hybrid zone.

bioRxiv : the preprint server for biology
2026

Real-world experience of ozanimod in adults with multiple sclerosis.

Neurodegenerative disease management
2026

Alterations in CSF Amyloid-β and Tau Biomarkers in Former College and Professional American Football Players: Findings from the DIAGNOSE CTE Research Project.

Journal of neurotrauma
2026

Post-Coronavirus Disease (COVID)-19 Irritable Bowel Syndrome: What We've Learned So Far.

Neurogastroenterology and motility
2026

Association of standard postoperative day 1 discharge following endonasal surgery for pituitary adenoma with lower complication rates and unplanned medical care.

Journal of neurosurgery
2026

Severe leukemoid reaction and spontaneous tumor lysis syndrome in a young patient with undifferentiated Lynch syndrome-associated ovarian cancer.

Gynecologic oncology reports
2026

Single-beat method echocardiographic comparison of ventricular-arterial coupling in adults with and without Down syndrome.

American journal of physiology. Heart and circulatory physiology
2025

Protein Kinase A Signaling in Cortisol Production and Adrenal Cushing's Syndrome.

Cells
2026

Comparative efficacy of exercise modes on cardiometabolic health in women with polycystic ovary syndrome: a systematic review with pairwise and network meta-analyses.

BMC women's health
2025

Intraoperative management of Takotsubo cardiomyopathy secondary to parathyroidectomy in the setting of myocardial bridge: a case report.

Annals of medicine and surgery (2012)
2026

Tinengotinib for adults with advanced or metastatic cholangiocarcinoma: a multicentre, open-label, phase 2 trial.

The lancet. Gastroenterology & hepatology
2025

Comparison of Gluteus Medius Muscle Activation in Women With and Without Patellofemoral Pain.

Journal of athletic training
2025

Use of Calcium Modification in Percutaneous Coronary Intervention: A Comprehensive Review.

Journal of clinical medicine
2025

Toll-like Receptor 4 Contributes to PCOS-like Metabolic and Reproductive Pathogenesis.

bioRxiv : the preprint server for biology
2025

Shape analysis of the amygdala, hippocampus and thalamus in former American football players.

Brain communications
2025

The Association Between Dietary Intake of Aromatic Amino Acids and Metabolic Syndrome.

Journal of nutrition and metabolism
2026

Phase I Randomized Study of Cardiac Stem Cells in Patients With Hypoplastic Left Heart Syndrome: The CHILD Trial.

JACC. Heart failure
2025

Effects of supplementation with two probiotic strains (Lactobacillus helveticus and Bifidobacterium longum) on hormonal status, oxidative stress, and clinical symptoms in women with polycystic ovary syndrome: a randomized clinical trial.

Nutrition journal
2026

Diffusion Alterations at the Gray Matter/White Matter Boundary in Traumatic Encephalopathy Syndrome.

Journal of neurotrauma
2025

A Case of Coccidioides Meningitis in an Immunocompetent Host and the Challenges in Diagnosis.

Case reports in infectious diseases
2025

Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes.

Case reports in genetics
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Corrected QT Intervals in the Pediatric Emergency Department: Don't Be Misled.

Pediatric emergency care
2025

Approaching ocular risks during spaceflight with 3D printing: Technical strategies to protect astronaut vision.

Life sciences in space research
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Engaging Chinese and Korean American communities in dementia research: A journey of inclusivity and partnership.

Alzheimer's & dementia : the journal of the Alzheimer's Association
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"Do you want to know or not?" How prenatal providers manage clinical uncertainty related to chromosomal risk and noninvasive prenatal testing.

Health (London, England : 1997)
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Sulcal morphology in former American football players.

Brain communications
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Postpartum spontaneous hepatic bleeding in a dog.

The Canadian veterinary journal = La revue veterinaire canadienne
2025

Carvone derived cannabidiol enantiomers as novel anticonvulsants.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
2025

Prevalence and predictors of Biker's hand syndrome among the professional bike riders in Bangladesh: A cross-sectional study.

PloS one
2026

Evidence-Based Clinical Effectiveness of Kundalini Yoga: Systematic Review of RCTs Across Multiple Health Conditions.

Alternative therapies in health and medicine
2025

Epinephrine and the paradox of Kounis syndrome: a case series and review of management.

European heart journal. Case reports
2026

The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research Opportunities.

American journal of medical genetics. Part A
2025

Impaired thalamic burst firing in fragile X syndrome.

Cell reports
2025

CA2 neurons show abnormal responses to social stimuli in a rat model of Fragile X syndrome.

bioRxiv : the preprint server for biology
2025

Physical Therapy Management for Delayed Diagnosis of Developmental Dysplasia of the Hip: A Case Report.

Case reports in pediatrics
2026

Treating Evaporative Dry Eye Disease in Dogs Based Upon Tear Film Lipid-Layer Thickness: A Retrospective Cohort Study.

Veterinary ophthalmology
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The Comparative Effects of White Potato and White Rice Consumption on Measures of Cardiometabolic Health in Individuals with Type 2 Diabetes Mellitus and Features of Metabolic Syndrome.

Current developments in nutrition
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Mental Health Needs in Patients With Communication Deficits and Chronic Health Needs: A Case of a Teenager With Goldenhar Syndrome.

Cureus
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Inactivation of BSL-2 and BSL-3 human pathogens using FATHHOME's Trinion Disinfector: A rapid and eco-friendly ozone-based dry disinfection approach.

Biosafety and health
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Evaluation of Kindergarten Through Grade 12 All-Cause Absenteeism Data as an Indicator and Predictor of Respiratory Disease, 2018-2022.

Public health reports (Washington, D.C. : 1974)
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Concurrent AESOP and POEM syndrome presenting as an indurated plaque: AESOP's paraneoplastic POEM.

JAAD case reports
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Dermatological impacts of urological cancer treatments.

World journal of urology
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Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome.

Viruses
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Epigenetic Profiling of Cell-Free DNA in Cerebrospinal Fluid: A Novel Biomarker Approach for Metabolic Brain Diseases.

Life (Basel, Switzerland)
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Prostaglandins Regulate Urinary Purines by Modulating Soluble Nucleotidase Release in the Bladder Lumen.

International journal of molecular sciences
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Retrospective Evaluation of Clonality in Canine Erythema Multiforme.

Veterinary dermatology
2025

Leveraging multiomic approaches to elucidate mechanisms of heterogeneity in Alzheimer's disease: Neuropsychiatric symptoms, co-pathologies, and sex differences.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2025

Cannabinoid Hyperemesis Syndrome Presenting as Postoperative Nausea and Vomiting in a Chronic Cannabis User: A Case Report.

Cureus
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Alarming implications: severe fever with thrombocytopenia syndrome and its biological vectors in the context of climate change.

Frontiers in microbiology
2025

Probable Irukandji-Like Syndrome in the US Florida Keys.

The American journal of tropical medicine and hygiene
2025

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Medicine
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Idionomic Analysis, a Process-Based Approach, and the Ultimate Purpose of Acceptance and Commitment Therapy.

The Psychiatric clinics of North America
2025

The Other Side of Tamponade: RP Impella Support in Pericardial Decompression Syndrome.

JACC. Case reports
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Vestibular dysfunction after mild traumatic brain injury: A systematic review.

The Clinical neuropsychologist
2025

Neurotoxic effects of scorpion envenomation, a video of nystagmus, dysmetria, and tongue fasciculations: a case report.

Journal of medical case reports
2025

Management of a Case of Dragged-Fovea Diplopia Syndrome.

Journal of pediatric ophthalmology and strabismus
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The Adverse Effects of Artri King: A Systematic Review and Case Series.

Southern medical journal
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Central Blood Pressure and Augmentation Index in Older Adults With Intellectual Disabilities.

Journal of intellectual disability research : JIDR
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Prediction of Cerebrospinal Fluid (CSF) Pressure with Generative Adversarial Network Synthetic Plasma-CSF Biomarker Pairing.

Neuroinformatics
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Lesional Markers and Precursors of Melanoma.

Dermatologic clinics
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Clinical trials for neuropsychiatric syndromes in major and mild neurocognitive disorders: A CONSORT-based approach.

International psychogeriatrics
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Outcomes of Liver Cirrhosis Patients Hospitalized for Influenza Compared With COVID-19 Between 2020 and 2021 in the United States.

Journal of clinical gastroenterology
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The Role of DNA Methylation in Insulin Resistance and Metabolic Dysregulation in Polycystic Ovary Syndrome Patients: A Systematic Review.

Cureus
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Small Bowel Obstruction Secondary to Coiling of Gastric Electrical Stimulator Leads: A Rare Complication of Gastroparesis Management.

Radiology case reports
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Successful Online Exercise Intervention Studies for Individuals With Intellectual Disabilities Including Down Syndrome: Best Practices and Recommendations.

Journal of applied research in intellectual disabilities : JARID
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Application of joinpoint regression to SARS-CoV-2 wastewater-based epidemiology in Las Vegas, Nevada, USA.

Epidemiology and infection
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Prevalence and Etiology of Strabismus in Down Syndrome: A Systematic Review and Meta-Analysis with a Focus on Ethnic Differences in the Esotropia/Exotropia Ratio.

Ophthalmic epidemiology
2026

Higher imposter syndrome symptoms associated with greater odds of eating disorders in college and university students.

Journal of American college health : J of ACH
2025

Thoracic Outlet Syndrome Case Report: Appropriate Diagnosis Can Expedite Patient Treatment and Prevent Negative Outcomes.

Clinical practice and cases in emergency medicine
2025

Genome-wide association study of long COVID.

Nature genetics
2025

Allogeneic Hematopoietic Stem Cell Transplant for an Unknown Inherited Bone Marrow Failure Syndrome With a Novel Compound Heterozygous Mutation.

Pediatric blood & cancer
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Impact of exercise to treat postural orthostatic tachycardia syndrome: a systematic review.

Frontiers in neurology
2026

Volume Loss in the Mammillary Bodies, Fornix, and Other Papez Circuit Structures in Fighters with Traumatic Encephalopathy Syndrome.

Journal of neurotrauma
2025

Impact of chronic hyperglycemia and high-fat diet on Alzheimer's disease-related pathology in CX3CR1 knockout mice.

Metabolic brain disease
2025

Brugada Syndrome Ablation for the Prevention of Ventricular Fibrillation Episodes (BRAVE).

Heart rhythm
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Safety and efficacy of continuous infusion terlipressin (BIV201): A phase 2 trial in patients with decompensated cirrhosis and refractory ascites.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
2025

Effects of Spirulina (Arthrospira) platensis supplementation on intestinal permeability, antioxidant and inflammatory markers, quality of life and disease severity in patients with constipated-predominant irritable bowel syndrome: a randomized double‑blind, placebo‑controlled trial.

Nutrition journal
2025

Catecholamine Dysregulation in Former American Football Players: Findings From the DIAGNOSE CTE Research Project.

Neurology
2025

Higher hyperpolarization-activated current in a subpopulation of interneurons in stratum oriens of area CA1 in the hippocampus of fragile X mice.

Journal of neurophysiology
2025

Resuscitative Endovascular Balloon Occlusion of the Aorta in surgical and trauma patients: a systematic review, meta-analysis and practice management guideline from the Eastern Association for the Surgery of Trauma.

Trauma surgery & acute care open
2026

Multisystem Inflammatory Syndrome in Children: A Comprehensive Review Over the Past Five Years.

Journal of intensive care medicine
2025

Weight-loss interventions for adolescents with Down syndrome: a systematic review.

Obesity (Silver Spring, Md.)
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Unveiling the Therapeutic Potential of the Second-Generation Incretin Analogs Semaglutide and Tirzepatide in Type 1 Diabetes and Latent Autoimmune Diabetes in Adults.

Journal of clinical medicine
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Traumatic Encephalopathy Syndrome: Head Impact Exposure and Blood Biomarkers in Professional Combat Athletes.

The Journal of head trauma rehabilitation
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Urrets-Zavalia syndrome and secondary acute-angle closure glaucoma induced by implantable collamer lens.

Proceedings (Baylor University. Medical Center)
2025

Identification of m6A-related biomarkers in Kawasaki disease.

Biochimica et biophysica acta. Molecular basis of disease
2025

Encephalopathy at High Altitude: Hyponatremia or High Altitude Cerebral Edema?

Wilderness & environmental medicine
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Vascular Loop Syndrome As the Etiology of Abducens Nerve Palsy: A Case Report.

Cureus
2025

Critical Events in Patients With Alternating Hemiplegia of Childhood: A Cohort Study Subgroup Analysis.

AANA journal
2025

Effect of the Membrane Environment on Pharmacologic Inhibition of hERG K+ Channel Activity.

JACC. Clinical electrophysiology
2025

Dispersion-based cognitive intra-individual variability in former American football players: Association with traumatic encephalopathy syndrome, repetitive head impacts, and biomarkers.

The Clinical neuropsychologist
2025

Optimizing autonomous artificial intelligence diagnostics for neuro-ocular health in space missions.

Life sciences in space research
2025

Single- versus two-test criteria for cognitive impairment: associations with CSF and imaging markers in former American football players.

The Clinical neuropsychologist
2025

Neuropsychiatric symptoms predict rate of change in executive function in Alzheimer's disease and related dementias.

Journal of the International Neuropsychological Society : JINS
2024

Prostaglandins Differentially Regulate the Constitutive and Mechanosensitive Release of Soluble Nucleotidases in the Urinary Bladder Mucosa.

International journal of molecular sciences
2025

Efficacy of intermittent fasting on improving liver function in individuals with metabolic disorders: a systematic review and meta-analysis.

Nutrition & metabolism
2024

Olfactory function is reduced in a subset of former elite American football players with traumatic encephalopathy syndrome.

Chemical senses
2024

Parsing stigma's relationship with the psychosocial functioning of youth identified as at clinical high risk for psychosis: evaluating whether symptom stigma or labelling stigma is stronger.

The British journal of psychiatry : the journal of mental science
2024

The Discourse Surrounding Polycystic Ovary Syndrome on TikTok: A Social Media Analysis.

Healthcare (Basel, Switzerland)
2024

Reducing Exposures to Endocrine Disruptors (REED) study, a personalized at-home intervention program to reduce exposure to endocrine disrupting chemicals among a child-bearing age cohort: study protocol for a randomized controlled trial.

Trials
2025

Patient-provider relationships and long COVID: A cross-sectional survey about impact on quality of life.

Disability and health journal
2024

Correlation between marginal bone loss around dental implants and various systemic diseases: a cross-sectional study.

International journal of implant dentistry
2024

Exacerbation of Fragile X-associated Tremor/Ataxia Syndrome in the Context of COVID-19 Infection: A Case Report.

Cureus
2025

Impact of Sex and Gender in Stroke in South and Southeast Asia: A Rapid Scoping Review.

Cerebrovascular diseases (Basel, Switzerland)
2024

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.

medRxiv : the preprint server for health sciences
2024

Infant and parent heart rates during a babywearing procedure: Evidence for autonomic coregulation.

Infant behavior & development
2024

Disruptions to protein kinase A localization in adrenal pathology.

Biochemical Society transactions
2024

Examination of plasma biomarkers of amyloid, tau, neurodegeneration, and neuroinflammation in former elite American football players.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2025

A critical review of brexpiprazole oral tablets as the first drug approved to treat agitation symptoms associated with dementia due to Alzheimer's disease.

Expert review of neurotherapeutics
2024

Screening Familial Risk for Hereditary Breast and Ovarian Cancer.

JAMA network open
2024

A framework for translating tauopathy therapeutics: Drug discovery to clinical trials.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2024

Efficacy and safety of ticagrelor monotherapy following a brief DAPT vs. prolonged 12-month DAPT in ACS patients post-PCI: a meta-analysis of RCTs.

European journal of clinical pharmacology
2024

Comparing Conventional Medical Management to Spinal Cord Stimulation for the Treatment of Low Back Pain in a Cohort of DISTINCT RCT Patients.

Journal of pain research
2024

Cavum Septum Pellucidum in Former American Football Players: Findings From the DIAGNOSE CTE Research Project.

Neurology. Clinical practice
2024

Macrophage Activation Syndrome in the Setting of Rheumatic Diseases.

Advances in experimental medicine and biology
2024

Endovascular Treatment of May-Thurner Syndrome in an Office-Based Laboratory.

Cureus
2024

Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.

JCI insight
2024

Imaging in spaceflight associated neuro-ocular syndrome (SANS): Current technology and future directions in modalities.

Life sciences in space research
2024

Multiple Endocrine Neoplasia Type 1, Type 2A, and Type 2B.

Primary care
2024

A Dynamic and Effective Peptide-Based Strategy for Promptly Addressing Emerging SARS-CoV-2 Variants of Concern.

Pharmaceuticals (Basel, Switzerland)
2024

Anatomical and surgical considerations for Bow Hunter's syndrome in an elderly patient.

Radiology case reports
2025

Characterizing Neurobehavioral Dysregulation Among Former American Football Players: Findings From the DIAGNOSE CTE Research Project.

The Journal of neuropsychiatry and clinical neurosciences
2023

The spaceflight contrast sensitivity hypothesis and its role to investigate the pathophysiology of spaceflight-associated neuro-ocular syndrome.

Frontiers in ophthalmology
2024

Chronic Kidney Disease Stage and Cardiovascular and Mortality Events Among Older Adults: The SPRINT Trial.

Kidney medicine
2024

Granulomatosis With Polyangiitis as an Etiology of Silent Sinus Syndrome: A Case Report.

Cureus
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The Autoimmune Gender Gap: A Rare Case of a Male Patient With Overlapping Autoimmune Hepatitis and Primary Biliary Cholangitis.

Cureus
2024

High initial heart rate score is an independent predictor of new atrial high-rate episodes in pacemaker patients with sinus node dysfunction.

Heart rhythm
2024

Exosomes, and the potential for exosome-based interventions against COVID-19.

Reviews in medical virology
2024

Severe Pediatric Neurological Manifestations With SARS-CoV-2 or MIS-C Hospitalization and New Morbidity.

JAMA network open
2024

Office-Based Carpal Tunnel Release With Ultrasound Guidance: 6-month Outcomes From the Multicenter ROBUST Trial.

Journal of hand surgery global online
2024

A Rare Presentation of Systemic Lupus Erythematosus in a Patient With Fever of Unknown Origin.

Cureus
2024

Trends of emergency department visits for cannabinoid hyperemesis syndrome in Nevada: An interrupted time series analysis.

PloS one
2024

XR-SANS: a multi-modal framework for analyzing visual changes with extended reality (XR) in Spaceflight Associated Neuro-Ocular Syndrome (SANS).

Eye (London, England)
2024

Using natural language processing in emergency medicine health service research: A systematic review and meta-analysis.

Academic emergency medicine : official journal of the Society for Academic Emergency Medicine
2024

Surgical outcomes and revision rates for velopharyngeal insufficiency (VPI) in syndromic and non-syndromic children: A systematic review and meta-analysis.

American journal of otolaryngology
2024

Heterozygous COL5A1 deletion in a cat with classical Ehlers-Danlos syndrome.

Animal genetics
2024

FA4SANS-GAN: A Novel Machine Learning Generative Adversarial Network to Further Understand Ophthalmic Changes in Spaceflight Associated Neuro-Ocular Syndrome (SANS).

Ophthalmology science
2024

"Spaceflight-to-Eye Clinic": Terrestrial advances in ophthalmic healthcare delivery from space-based innovations.

Life sciences in space research
2024

Decompression and collagen wrapping of a fibrolipomatous hamartoma of the median nerve: a new approach for a rare and difficult problem.

Case reports in plastic surgery & hand surgery
2024

SARS-CoV-2 superinfection in CD14+ monocytes with latent human cytomegalovirus (HCMV) promotes inflammatory cascade.

Virus research
2024

Temporal assessment of SARS-CoV-2 detection in wastewater and its epidemiological implications in COVID-19 case dynamics.

Heliyon
2024

The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?

Clinics in colon and rectal surgery
2024

Measurement protocols and determinants of peak oxygen consumption in adults with Down syndrome: a systematic review.

Journal of intellectual disability research : JIDR
2024

Progress in Pharmacologic Management of Neuropsychiatric Syndromes in Neurodegenerative Disorders: A Review.

JAMA neurology
2024

Spontaneous Coronary Artery Dissection in a Patient With Cardiogenic Shock: To Revascularize or Not to Revascularize?

Cureus
2024

SANS-CNN: An automated machine learning technique for spaceflight associated neuro-ocular syndrome with astronaut imaging data.

NPJ microgravity
2024

Ultrasound Biomicroscopy as a Novel, Potential Modality to Evaluate Anterior Segment Ophthalmic Structures during Spaceflight: An Analysis of Current Technology.

Diagnostics (Basel, Switzerland)
2024

Brain morphometry in former American football players: findings from the DIAGNOSE CTE research project.

Brain : a journal of neurology
2024

Sulfide catabolism in hibernation and neuroprotection.

Nitric oxide : biology and chemistry
2024

Psychedelic Therapy: A Primer for Primary Care Clinicians-Ibogaine.

American journal of therapeutics
2024

Invasive-dominated grasslands in Hawai'i are resilient to disturbance.

Ecology and evolution
2024

Effects of a 12-week telehealth exercise intervention on gait speed and gait deviations in adults with Down syndrome.

Journal of intellectual disability research : JIDR
2024

Aromatase Inhibitor-Associated Distal Radioulnar Joint Instability and Tear of the Extensor Digiti Minimi: A Case Report.

American journal of physical medicine & rehabilitation
2024

A Case of Klippel-Trenaunay Syndrome Complicated by Group A Streptococcemia and Multiple Organ Failure.

Cureus
2024

Social jet lag impairs exercise volume and attenuates physiological and metabolic adaptations to voluntary exercise training.

Journal of applied physiology (Bethesda, Md. : 1985)
2024

Repetitive head impacts among professional fighters: a pilot study evaluating Traumatic Encephalopathy Syndrome and postural balance.

The Physician and sportsmedicine
2024

Inflammatory biomarkers for neurobehavioral dysregulation in former American football players: findings from the DIAGNOSE CTE Research Project.

Journal of neuroinflammation
2023

Select Toxicologic Pathology Case Studies of the Hepatobiliary System.

Toxicologic pathology
2023

Interleukin-15 responses to acute and chronic exercise in adults: a systematic review and meta-analysis.

Frontiers in immunology
2023

Psoriasis: Recognition and Management Strategies.

American family physician
2024

Metabolic Syndrome, Modifiable Lifestyle Factors, and Sleep-Disordered Breathing: The Hispanic Community Health Study.

Annals of behavioral medicine : a publication of the Society of Behavioral Medicine
2024

Radiation-induced ophthalmic risks of long duration spaceflight: Current investigations and interventions.

European journal of ophthalmology
2024

Flortaucipir tau PET findings from former professional and college American football players in the DIAGNOSE CTE research project.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2023

The rediscovery of the putative ant social parasite Manica parasitica syn. nov. (Hymenoptera: Formicidae) reveals an unexpected endoparasite syndrome.

Biology letters
2023

A Rare Presentation of Postaxial Polydactyly in a 2-Year-Old Female with Ellis-van Creveld Syndrome.

Journal of hand surgery global online
2024

Trends and cardiovascular outcomes of Takotsubo syndrome with cardiogenic shock vs. mixed cardiogenic and septic shock: a nationwide propensity matched analysis.

Expert review of cardiovascular therapy
2023

The impact of the COVID-19 pandemic on early termination of ophthalmology clinical trials: A cross-sectional analysis of ClinicalTrials.gov.

SAGE open medicine
2023

Polyaniline/Titania Nanotube-Based Biosensor Strip for Sensitive and Specific Electrochemical Detection of SARS-CoV-2.

ACS omega
2023

Diffusion in the corpus callosum predicts persistence of clinical symptoms after mild traumatic brain injury, a multi-scanner study.

Frontiers in neuroimaging
2022

C1 esterase inhibitor-mediated immunosuppression in COVID-19: Friend or foe?

Clinical immunology communications
2023

A prospective study on the precision of height data from electronic medical records in tidal volume calculation for lung-protective ventilation.

Medicine
2024

Mechanical circulatory support versus vasopressors alone in patients with acute myocardial infarction and cardiogenic shock undergoing percutaneous coronary intervention.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions
2024

Examination of parkinsonism in former elite American football players.

Parkinsonism & related disorders
2023

Radiofrequency Ablation's Effectiveness for Treating Abdominal and Thoracic Chronic Pain Syndromes: A Systematic Review of the Current Literature.

Pain physician
2023

Myopericarditis as a Delayed Complication of COVID-19 Infection: A Case Report.

Cureus
2023

Surge of Midazolam Use in the Midst of Lorazepam Shortage.

Journal of clinical psychopharmacology
2023

Case report: Co-occurring obsessive-compulsive disorder and affective psychotic disorder complicated by catatonia in an adolescent female patient.

Frontiers in psychiatry
2023

Sustained Suppression of Gorlin Syndrome-Associated Basal Cell Carcinomas with Vismodegib or Sonidegib: A Case Series.

Current oncology (Toronto, Ont.)
2023

The Role of Anticoagulants and Antiplatelets in Reducing Mortality in COVID-19 Patients: A Systematic Review and Meta-Analysis of Studies Reporting Adjusted Data.

Cureus
2023

The Idionomic Future of Cognitive Behavioral Therapy: What Stands Out From Criticisms of ACT Development.

Behavior therapy
2023

Association of Postless Distraction in Hip Arthroscopy With Decreased Postoperative Groin Numbness.

The American journal of sports medicine
2023

A Focus on Aging, HIV/AIDS, and Neurocognitive Challenges: Examining Southern Nevada HIV Sector Providers' Awareness and Prospective Roles.

International journal of environmental research and public health
2023

How do the Social Determinants of Health Impact the Post-Acute Sequelae of COVID-19: A Critical Review.

The Nursing clinics of North America
2023

The Long-Term Effects of a Low-Fermentable Oligosaccharides, Disaccharides, Monosaccharides, and Polyols Diet for Irritable Bowel Syndrome Management.

Current developments in nutrition
2023

Invasive and non-invasive ventilatory strategies for early and evolving bronchopulmonary dysplasia.

Seminars in perinatology
2023

miR-10b-5p rescues leaky gut linked with gastrointestinal dysmotility and diabetes.

United European gastroenterology journal
2023

Takotsubo Cardiomyopathy Syndrome in Critical Care Transport: A Case and Critical Review.

Air medical journal
2024

Pediatric Complex Regional Pain Syndrome and Occupational Therapy Intervention: A Scoping Review.

OTJR : occupation, participation and health
2023

DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.

NPJ genomic medicine
2023

Myalgic Encephalomyelitis-Chronic Fatigue Syndrome Common Data Element item content analysis.

PloS one
2023

Lack of awareness of neurogastroenterology and motility within medical education: Time to fill the gap.

Neurogastroenterology and motility

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Doenças relacionadas

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Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Post-Coronavirus Disease (COVID)-19 Irritable Bowel Syndrome: What We've Learned So Far.
    Neurogastroenterology and motility· 2026· PMID 41578455mais citado
  2. Tinengotinib for adults with advanced or metastatic cholangiocarcinoma: a multicentre, open-label, phase 2 trial.
    The lancet. Gastroenterology & hepatology· 2026· PMID 41349554mais citado
  3. A Neonatal Transfer from Birth Center to Hospital with a Postpartum Hemorrhage During Transport.
    Journal of midwifery & women's health· 2026· PMID 41861093mais citado
  4. Simultaneous Management of May-Thurner Syndrome and Spigelian Hernia: A Case Report.
    The American journal of case reports· 2026· PMID 41860810mais citado
  5. Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.
    Journal of arrhythmia· 2026· PMID 41738055mais citado
  6. Intention to Initiate Harm Reduction Vending Machine Use Among People Who Use Drugs: A Cross-Sectional Study of Prevalence and Correlates.
    Health Promot Pract· 2026· PMID 41992928recente
  7. Drug-Related Felony Processing in Nevada (2016-2023): Trends in Arrest, Conviction, and Structural Exposure.
    Cureus· 2026· PMID 41978598recente
  8. Genomic Correlates of Disease Recovery in Natural Populations of the Sierra Nevada Yellow-Legged Frog (Rana sierrae).
    Mol Ecol· 2026· PMID 41972483recente
  9. Assessing the Application of a Genomic Network Analysis in Population Ecology: Inferring Patterns of Dispersal and Geographic Structure in the Emerging Pathogen, Coccidioides.
    Ecol Evol· 2026· PMID 41953769recente
  10. Wolf Presence Disrupts Seasonal Variation in Hair Cortisol Among Free-Ranging Beef Cattle.
    Ecol Evol· 2026· PMID 41948213recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:370059(Orphanet)
  2. MONDO:0018261(MONDO)
  3. GARD:21593(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55787830(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

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ORPHA:370059 · MONDO:0018261
CID-10
Q84.8 · Outras malformações congênitas especificadas do tegumento
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UMLS
C4751431
Wikidata
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