Introdução
O que você precisa saber de cara
Síndrome de Saethre–Chotzen (SSC), também conhecida como acrocefalossindactilia tipo III, é uma doença congênita rara associada à cranioestenose. Isso afeta o formato da cabeça e do rosto, resultando em uma cabeça em formato de cone e um rosto assimétrico. Indivíduos com SSC também apresentam pálpebras caídas (ptose), olhos amplamente espaçados (hipertelorismo) e pequenas anomalias nas mãos e nos pés (sindactilia). Indivíduos com casos mais graves de SSC podem apresentar deficiências intelectuais ou dificuldades de aprendizagem leves a moderadas. Dependendo do nível de gravidade, alguns indivíduos com SSC podem necessitar de alguma forma de intervenção médica ou cirúrgica. A maioria dos indivíduos com SSC vive vidas relativamente normais, independentemente de ser necessário tratamento médico ou não.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de ptose-sindactilia-dificuldades de aprendizagem
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Tau pathology in epilepsy: emerging mechanisms and translational opportunities.
The onset of epilepsy in adulthood occurs most commonly after 55 years of age. Given the ageing global population, this disorder represents an increasing burden on healthcare and society. The bidirectional link between epilepsy and dementia is a focus of intense research with underlying tau pathology highlighted as a potential mechanistic link. In this review, we examine the evidence for tau-related neurodegenerative processes in epilepsy beginning with how changes in biochemical and structural properties of the tau protein can lead to abnormal phosphorylation and pathological aggregation. We consider the role of tau in seizure occurrence and cognitive difficulties in experimental animal epilepsy models to human epileptic syndromes. Seizure prevalence is evaluated across established primary and secondary tauopathies to understand the associated hyperexcitability phenotype. We discuss the use of neurophysiology, metabolic imaging and novel fluid biomarkers as non-invasive measures of potential underlying neurodegeneration in epilepsy. It may, for example, be that these can be combined with remote measures of cognition and other physiological parameters to provide accurate longitudinal monitoring of cognition and underlying pathology. We also explore clinical trials that have targeted pathological tau accumulation in neurodegenerative conditions and consider an ongoing clinical study with sodium selenate, an enhancer of protein phosphatase enzyme PP2A, in people with epilepsy. These efforts signify a novel disease-modifying era with treatments that reduce seizures and modify cognitive outcomes in people with epilepsy. Our analysis of the literature underscores the need for more in-depth characterization of tau pathology, at biochemical and structural levels, in brain tissue and peripheral samples from people with epilepsy as an important step to deciphering the role of tau in the pathogenesis of epilepsy and related disorders. Examining the relationships between tau pathology and cognitive impairment in those with epilepsy provides critical perspectives on a potential causal tau pathomechanism that may have important roles in epileptogenesis and dementia.
Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.
This study examined self-esteem, body image, alexithymia, and aggression in adolescents with idiopathic/genetic generalized epilepsy (IGE). These domains were selected because they may be affected not only by epilepsy itself but also by stigma, difficulties in emotional regulation, or treatment-related effects. Assessing these domains together was intended to examine whether IGE might be associated with additional psychosocial strain in otherwise clinically stable adolescents. We carried out a case-control study including 45 adolescents with IGE and 45 controls matched for age and sex. Controls were selected from outpatient services and were required to have no neurological disorders. Psychiatric disorders were assessed using the K-SADS (Kiddie Schedule for Affective Disorders and Schizophrenia) interview; no clinically significant psychiatric diagnoses were identified in the control group. All participants completed standardized Turkish questionnaires on the same day.Within the epilepsy group, 20.0% were diagnosed with juvenile absence epilepsy (JAE), 22.2% with juvenile myoclonic epilepsy (JME), and 57.8% with epilepsy with generalized tonic-clonic seizures alone (EGTCSA). Across all four psychological measures, the epilepsy and control groups showed no statistically significant differences (all p > 0.05). No significant differences were found in subgroup analyses based on epilepsy syndrome or seizure frequency. Adolescents with well-controlled IGE and minimal psychiatric comorbidities demonstrated comparable levels of psychosocial functioning to their healthy peers. This finding is consistent with evidence suggesting that psychosocial difficulties in epilepsy are often linked to comorbidity and contextual factors rather than to the diagnosis alone. Studies conducted in broader settings and with larger, more varied samples will be needed to better understand how medical, emotional, and environmental factors jointly influence psychosocial outcomes in this population. • Adolescents with epilepsy are frequently considered at increased risk for psychosocial difficulties, including lower self-esteem, emotional instability, and body image concerns. • In this study, no significant differences were found in self-esteem, body image, alexithymia, or aggression among Turkish adolescents with idiopathic/genetic generalized epilepsy compared with healthy controls. These findings suggest that, when seizures are well controlled and psychiatric comorbidities are limited, epilepsy itself may not confer additional psychosocial vulnerability.
Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.
Infants with Down syndrome present multiple challenges that can affect growth and development, among them feeding, difficulties that arise in the early days after birth. We aimed to describe the sucking patterns of infants with Down syndrome in the neonatal intensive care unit (NICU). We reviewed the medical records of infants with Down syndrome admitted (2012-2022) to the University Pediatric Hospital NICU in San Juan, Puerto Rico, who were evaluated with a clinical swallow examination and the Neonatal Oral-Motor Assessment Scale (NOMAS). The study included 29 infants. The median gestational age was 38 weeks, and the median birth weight was 2650 grams. Generalized low muscle tone was identified in 81% of the infants. Sucking patterns were classified as disorganized (41%), dysfunctional (52%), and mature (7%). Only 8% of term infants had mature sucking. The clinical signs of swallow dysfunction included reduced oxygen saturation (20%), mottling (50%), interference with the gag reflex (31%), stridor (40%), and wet or gurgly breathing (75%). Mature sucking skills are expected in term infants. However, our sample of term infants with Down syndrome had a high prevalence of dysfunctional sucking. Neonates with congenital anomalies associated with hypotonia require a formal assessment with a clinical tool to determine their readiness for oral feeding and may require a complete evaluation of feeding and swallowing for the diagnosis and monitoring of swallowing dysfunction. These assessments will form the basis for the design of evidence-based interventions and may yield valuable information regarding neurodevelopmental outcomes.
The breath and mind connection in young people with post-COVID syndrome: feasibility and acceptability of a pilot randomised co-designed intervention.
Post-COVID syndrome is widely recognised in children and young people (CYP), where one or more persistent physical symptoms are present 12 weeks after the initial infection that cannot be explained by an alternative cause. We aimed to assess whether an intervention based on narrative therapy and breathing pattern retraining, co-designed with CYP with PCS (12-18 years) was feasible and acceptable within an NHS service. Participants were randomised to standard clinical care or intervention plus standard clinical care. The primary aim was to assess acceptability and feasibility within the study cohort. Intervention effects were evaluated using the Strengths and Difficulties Questionnaire (SDQ) Impact Score,with additional secondary outcomes included the Nijmegen questionnaire, Chandler Fatigue, and EQ-5D-Y, wellness rating, pulmonary function, and exercise testing. Thirty-two CYP were randomised to standard treatment (n = 15) or intervention (n = 17), mean age of 15 years, and 11 (34%) male. Twenty-seven (84%) were diagnosed with breathing pattern disorders. Four intervention groups were offered over 6 months. 14/17 completed the session. Qualitative feedback was positive. There was no statistically significant improvement in the SDQ over time or between groups. Nearly all secondary outcome measures showed statistically significant improvement over time (< 0.001) but not between groups. Conclusions: The intervention was acceptable and feasible to run in an NHS clinic setting for CYP with post-COVID syndrome. Significant improvements seen with time in secondary outcome measures in both groups indicate that post-COVID symptoms improve with time independent of the intervention. What is known - What is new: • Post-COVID syndrome (PCS) affects up to 66.5% of children and young people (CYP) with common persistent or fluctuating symptoms of fatigue, headaches, anxiety, brain fog, breathlessness, and post-exertional malaise and symptom exacerbation. • Few interventions have sought to address both the physical and mental health impact of PCS in adults and the evidence remains limited for CYP. • This novel psychology/physiotherapy co-designed intervention is acceptable and feasible in an NHS clinic setting. • We identified that breathing pattern disorders are common and a predominant cause of breathlessness in teenagers with PCS.
Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
Congenital Zika syndrome (CZS) represents a spectrum of fetal and neonatal abnormalities resulting from in utero Zika virus (ZIKV) transmission during pregnancy. Given the severe multisystem disabilities, relative recency of the epidemic and limited long-term data, comprehensive characterization at specialized centres is crucial. This study aimed to examine clinical symptoms, brain imaging and brain activity (video electroencephalography, VEEG) patterns in children with CZS receiving care at a specialized rehabilitation centre. We conducted a cross-sectional study from August 2018 to January 2019 with 48 children diagnosed with CZS according to the Brazilian Ministry of Health criteria. We collected clinical data from electronic medical records. The most common clinical problems included bladder and bowel incontinence (97.9%), epilepsy (85.5%), facial abnormalities (89%), swallowing difficulties (83.3%), excessive irritability (81.3%), eye misalignment (75%), sleep problems (72.9%), acid reflux (62.0%) and vision problems (62.5%). Brain imaging revealed reduced brain tissue volume (95.8%), abnormal corpus callosum (91.1%), enlarged fluid-filled spaces in the brain (89.5%), calcium deposits at the brain's outer layers (78.3%) and abnormally thick brain folds (71.1%). We found significant links between bone/muscle malformations and both white matter disease (p = 0.036) and enlarged brain ventricles (p = 0.031). Children with CZS consistently show motor difficulties, multiple clinical problems and characteristic brain abnormalities. These findings predict significant limitations in daily activities, movement and cognitive-social development.
Publicações recentes
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Reconsidering the LARS score: a cross-sectional descriptive study exploring complementary screening approaches for low anterior resection syndrome.
Cognitive Disengagement Syndrome Symptoms and ADHD Dimensions in Relation To Children's Daily Life Executive Functioning Deficits.
📚 EuropePMCmostrando 197
The Effectiveness of Non-Pharmacological Interventions in Treating Adolescents and Young Adults with Neuropsychiatric Symptoms of Long COVID: A Systematic Review and Meta-Analysis.
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Age and ageingPsychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID-5 and Standardized Cognitive Measures.
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European journal of pediatricsClinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
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Veterinary journal (London, England : 1997)Serial maternal filicide as evidence of Munchausen syndrome by proxy.
Journal of forensic sciencesCommunity Based Pre-School Screening to Detect Developmental, Behavioural, Hearing and Vision Problems in Survivors of Neonatal Cardiac Surgery.
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European journal of human genetics : EJHGCharles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.
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Expert opinion on therapeutic targetsClinical and Radiological Features of Aphasia Caused by Brainstem Infarction: Two Case Reports.
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International journal of colorectal diseaseBilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.
The American journal of case reportsDiagnosis and Management of Plummer-Vinson Syndrome in a Female Ghanaian.
Case reports in hematologyUnexpected severe hypercalcemia in a 6-year-old child with hypoparathyroidism and feeding difficulties.
JCEM case reportsAdaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.
GenesArtificial Intelligence Drives Advances in Multi-Omics Analysis and Precision Medicine for Sepsis.
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Frontiers in molecular neuroscienceChildhood Sleep Behaviours and Polycystic Ovary Syndrome Risk in Adolescence: The Raine Study Cohort Longitudinal Study.
The Journal of clinical endocrinology and metabolismPilot study of psilocybin in patients with post-treatment lyme disease.
Scientific reports[Tampon use during menstruation among Japanese females].
[Nihon koshu eisei zasshi] Japanese journal of public healthDelayed diagnosis of recurrent embolic strokes from cardiac myxoma coexisting with antiphospholipid syndrome presenting as progressive cognitive decline.
BMJ case reportsCongenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.
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CureusCollet Sicard syndrome: A rare manifestation of jugular nerve schwannoma.
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CureusHealth experiences and outcomes of autistic and non-autistic adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder.
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CureusStone Heart Syndrome After Aortic Valve Replacement for Severe Aortic Stenosis: A Case Report.
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Clinical and experimental medicineUnraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
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Neurology and therapyDifferences in Item Discrimination of the 25-Question Geriatric Locomotive Function Scale Between Younger and Middle-Aged Adults and Older Adults: An Analysis Using the Item Response Theory.
Geriatrics & gerontology internationalUncommon clinical presentations and diagnostic difficulties of antiphospholipid syndrome associated with cryptococcal meningitis: A case study.
Medical mycology case reportsThyrotoxicosis and Moyamoya Syndrome: A Fatal Intersection of Rare Disorders in a Young Patient With a Background of Hypothyroidism.
CureusSevere Diabetic Gastroparesis and Complex Discharge Planning: Home IV Cyclizine As the Only Solution.
CureusPercutaneous Coronary Intervention Associated With Contrast-Induced Encephalopathy.
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International journal of pediatric otorhinolaryngologySafety and Impacts of Physical Activity for Individuals Living With Hypermobility Spectrum Disorders and Hypermobile Ehlers-Danlos Syndrome: Protocol for a Scoping Review.
JMIR research protocolsRelationships Between Cognitive Disengagement Syndrome, Impulsivity, and Emotion Regulation Among Adolescents.
Journal of child and adolescent psychopharmacologyBladder Paraganglioma With Rapid Metastasis: A Case Report and Review of the Literature.
CureusUnderstanding tics and neurodevelopmental disorders through lived experience: The first-person experience and the parent perspective.
Handbook of clinical neurologyBeneath the tip of the iceberg: treatment of neuropsychiatric comorbidities in tic disorders.
Handbook of clinical neurologyTics in autism spectrum and in intellectual disability.
Handbook of clinical neurologySleep in tic disorders and Tourette syndrome.
Handbook of clinical neurologyExpanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.
Neurology. GeneticsCo-occurrence of lung adenocarcinoma with rapidly progressive dementia and multiple cerebral microbleeds: a case report.
Journal of medical case reportsClinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
Klinische PadiatrieCharacterizing early behavioral and social-emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study.
EpilepsiaAn Association Between Autoimmune Hepatitis (AIH) and Immunoglobulin G4-Related Disease (IgG4-RD) in a Male Diagnosed With Primary Sjögren's Syndrome (SJS): A Case-Based Review.
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Surgical case reportsAnti-VGLUT2 autoantibodies associated with post-COVID neurocognitive dysfunction: a case report.
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Geriatric nursing (New York, N.Y.)Development and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist: a three-phase mixed-methods study.
Journal of neurodevelopmental disordersNavigating clinical overlap: A case of polyarteritis nodosa in the setting of antiphospholipid syndrome.
Modern rheumatology case reportsInfantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.
CureusIdeational and conceptual apraxia by cerebral infarction in the left basal ganglia and right pons: a case report.
Frontiers in rehabilitation sciencesDiagnostic biomarkers for differentiating AQP4-IgG- negative NMOSD from other nervous system autoimmune disorders: a retrospective study.
Frontiers in immunology"It's like scratching at the door": Experiences of outpatient buprenorphine low dose initiation among people using fentanyl.
Journal of substance use and addiction treatmentHow we treat Nocardia infections in transplant recipients and people with HIV.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious DiseasesExploring the functional microbiome of pigs within the porcine respiratory disease complex: viral-bacterial co-infections and virulence factor profiling.
Microbiology spectrumGenome-wide selection analysis identifies genes associated with mandibular defects in Duolang sheep.
Frontiers in veterinary scienceAssociation Between Sleep Duration and Related Risk Factors with Metabolic Syndrome: A Systematic Review and Meta-analysis.
International journal of preventive medicineMain histopathological difficulties in diagnosing atypical melanocytic proliferations using MPATH-Dx V2: impact on patient management based on 6006 files referred for second opinions.
PathologyDevelopment and Validation of the Korean Version of the Rett Syndrome Behavioral Questionnaire.
Children (Basel, Switzerland)The Effects of Cognitive-Motor Dual-Task Exercise and Exergaming on Balance and Functional Mobility in Children with Down Syndrome: A Comparative Randomized Trial.
Brain sciencesAdams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.
Diagnostics (Basel, Switzerland)A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.
BMC neurologyClinical effects of the use of a novel oropharyngeal airway in painless gastroscopy in patients with obstructive sleep apnoea-hypopnoea syndrome: a randomised controlled trial protocol.
BMJ openAltered Mental Status Secondary to Clonidine Addiction and Withdrawal: A Cautionary Tale.
Journal of psychiatric practiceBleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.
American journal of medical genetics. Part AParental knowledge and barriers to cleft lip and palate care: a cross-cultural study from the Middle East and South Asia.
Frontiers in public healthA Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.
CureusInvestigation of Dietary Habits, Anthropometric Profile, and Hormone Levels of Women of Childbearing Age With Polycystic Ovary Syndrome (PCOS).
CureusClinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.
Biochemical geneticsDoes Cognitive Disengagement Syndrome Affect the Cognitive Flexibility of Children with Attention Deficit Hyperactivity Disorder?
The Eurasian journal of medicineShared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.
PloS oneBiofluid-based predictors of post-concussion symptoms: a narrative review of mild traumatic brain injury biomarkers.
Brain communicationsInterpreter Child Syndrome Leading to Parentification and Anxiety in a Refugee Girl: A Case Report.
CureusVariety is Not the Spice of Life: Inconsistent Definitions of Failure After Hip Reconstruction in Cerebral Palsy.
Journal of pediatric orthopedicsNonspecific Symptoms Attributable to Lyme Disease in High-Incidence Areas, United States, 2017-2021.
Emerging infectious diseasesFunctional Limitations and Illness-Related Absenteeism among School-Aged Children with and without Long COVID, United States, 2022-2023.
Emerging infectious diseases[Moebius syndrome after maternal misoprostol use].
Nederlands tijdschrift voor geneeskundeTotal venous coronary artery bypass grafting for acute myocardial infarction with Leriche syndrome and porcelain aorta: a case report.
Journal of surgical case reportsA case of immune-related adverse events, thyroid dysfunction, myocarditis with myositis, and myasthenia gravis overlap syndrome following serplulimab administration for lung adenocarcinoma.
ImmunotherapyRestless Legs Syndrome: A Review.
JAMAStatic Visual Agnosia Following Awake Resection of a Left Frontal Low-Grade Glioma: A Case Report of Ventral Stream Network Disruption ("Astatopsia").
Reports (MDPI)Efficacy of an Online Yoga Module in Alleviating Premenstrual Symptoms of Working Women in India: A Nonrandomized Controlled Trial.
Indian journal of community medicine : official publication of Indian Association of Preventive & Social MedicineSevere Short Stature, Pathological Fracture, and Avascular Necrosis Due to Prolonged Over-the-Counter Steroid Use in an Adolescent Patient.
CureusOptimizing Accessory Pathway Ablation in Coronary Sinus Diverticulum Using Internal Jugular Route With 3D-Mapping.
JACC. Case reportsCurrent research hotspots and difficulties of chronic prostatitis/chronic pelvic pain syndrome: neuroendocrine mechanism.
Annals of medicineMedical complications and psychosocial outcomes of adolescent pregnancy in high-income countries: a scoping review.
BMC public healthLong-term benefit of GPi-DBS in YY1-related dystonia: a case report.
Acta neurologica BelgicaAssociações
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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.
- Tau pathology in epilepsy: emerging mechanisms and translational opportunities.
- Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.
- Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.
- The breath and mind connection in young people with post-COVID syndrome: feasibility and acceptability of a pilot randomised co-designed intervention.
- Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· 2026· PMID 41839214mais citado
- Ortho-surgical management of Arhinia syndrome: A case report.
- Locomotive Syndrome Digital Therapeutics Provided via a Smartphone App: Proof-of-Concept Single-Group Trial Study.
- Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication.
- Reconsidering the LARS score: a cross-sectional descriptive study exploring complementary screening approaches for low anterior resection syndrome.
- Cognitive Disengagement Syndrome Symptoms and ADHD Dimensions in Relation To Children's Daily Life Executive Functioning Deficits.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:238766(Orphanet)
- MONDO:0016560(MONDO)
- Busca completa no PubMed(PubMed)
- Q55786308(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
