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Síndrome de ptose-sindactilia-dificuldades de aprendizagem
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Introdução

O que você precisa saber de cara

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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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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Tau pathology in epilepsy: emerging mechanisms and translational opportunities.

Brain : a journal of neurology2026 Mar 23

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.

#2

Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.

European journal of pediatrics2026 Mar 19

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.

#3

Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.

Puerto Rico health sciences journal2026 Mar

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.

#4

The breath and mind connection in young people with post-COVID syndrome: feasibility and acceptability of a pilot randomised co-designed intervention.

European journal of pediatrics2026 Mar 16

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.

#5

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 Neuroscience2026 Apr

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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📚 EuropePMCmostrando 197

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
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Extracorporeal Carbon Dioxide Removal (ECCO₂R) as a Bridge to Extracorporeal Membrane Oxygenation (ECMO) in Severe H1N1-Associated Acute Respiratory Distress Syndrome (ARDS) in Morbid Obesity: A Case From a Resource-Limited Hospital.

Cureus
2026

Tau pathology in epilepsy: emerging mechanisms and translational opportunities.

Brain : a journal of neurology
2026

A Lip Fixation Device Facilitates Labial Salivary Gland Biopsy for Sjögren's Disease.

Journal of visualized experiments : JoVE
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Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.

Molecular vision
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A gated pathway for suspected urinary tract infection in dementia.

Diagnostic microbiology and infectious disease
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Carpal Tunnel Decompression and Occupational Productivity: Assessing Post-Surgical Work Engagement and Absenteeism.

Current rheumatology reviews
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Mapping the Interplay Between Childhood Trauma, Substance Use, and Psychopathology in Early Psychosis: A Network Analysis Approach.

Schizophrenia bulletin
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Deployment of an Activity Monitoring Program to Complement a Clinical Intervention for Veterans With Gulf War Illness: Qualitative Study.

JMIR human factors
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Patient- and Family-Centered Care for the Emergency Admission of a Child with Autism Spectrum Disorder.

Juntendo medical journal
2026

Perceived Thermoregulation Dysfunction and Cardiovascular Symptom Burden in Patients with Metabolic Syndrome: A Multicountry Questionnaire-Based Study.

Juntendo medical journal
2026

Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.

European journal of pediatrics
2026

Rehabilitation status and preference for medical choice behaviours of long COVID-19 in China: a national cross-sectional study and discrete choice experiment.

Journal of global health
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The Lateral Alignment Angle: A Novel Method for Evaluating Lateral Patellar Tilt With High Accuracy, Good Reproducibility, and Independence From Patellofemoral Joint Morphology.

Orthopaedic surgery
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'Just a delirium': a qualitative study of care home managers' perspectives on barriers to delirium recognition and management in UK care homes.

Age and ageing
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Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID-5 and Standardized Cognitive Measures.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
2026

Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.

Puerto Rico health sciences journal
2026

Esophageal Perforation With Right-Sided Hemothorax in a Patient With Suspected Variceal Bleeding: A Diagnostic Challenge.

Cureus
2026

The breath and mind connection in young people with post-COVID syndrome: feasibility and acceptability of a pilot randomised co-designed intervention.

European journal of pediatrics
2026

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
2025

Ortho-surgical management of Arhinia syndrome: A case report.

La Tunisie medicale
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Bardet-Biedl syndrome in two sibling pairs: a case series.

Journal of medical case reports
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"How do I explain something I don't understand?": Young people's experiences of functional tics.

Disability and rehabilitation
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Motor Neuron Disease with Guillain-Barré Syndrome? Motor Band Sign with Anti-GQ1b Antibodies.

Diagnostics (Basel, Switzerland)
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Locomotive Syndrome Digital Therapeutics Provided via a Smartphone App: Proof-of-Concept Single-Group Trial Study.

JMIR aging
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Rapunzel Syndrome in a Child With Sensory Feeding Difficulties and Attention-Deficit Hyperactivity Disorder.

Cureus
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Neonatal Bradypnea as an Under-Recognized Manifestation of Prader-Willi Syndrome: A Case Report.

Cureus
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Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.

Journal of the peripheral nervous system : JPNS
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Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.

Clinical case reports
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'Missing' disease-causing variants in Alport syndrome.

Nature reviews. Nephrology
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Wnt/β -catenin signalling shapes macrophage behaviour during injury and repair in the mouse submandibular gland.

Scientific reports
2026

Depressive Symptoms in Patients With SARS-CoV-2 and Acute Coronary Syndrome.

Cureus
2026

Living with a Hereditary Cancer Syndrome: Personal Perspectives and Implications for Oncology Nurses.

Seminars in oncology nursing
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ADHD With and Without Comorbid Specific Learning Disorder: Comparisons of WISC-R Profiles, Cognitive Disengagement and Psychiatric Symptoms.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2026

Effects of prior cesarean delivery on subsequent pregnancy outcomes using assisted reproductive technology: a narrative review.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2026

Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.

BMJ case reports
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Towards precision medicine in Tourette syndrome: a perspective on AI-driven predictive modelling and personalised care.

Frontiers in computational neuroscience
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Efficacy of Selective Serotonin Reuptake Inhibitors for the Treatment of Chronic Pain and Comorbid Depression in Individuals With Fibromyalgia: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Cureus
2026

Sleep-related respiratory impairment and psychosocial stress in patients with persistent orofacial pain: A cross-sectional exploratory study.

Dental and medical problems
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Clinical observations of tetanus toxin plus decoy, Snoretox-1, a novel targeted neuromuscular stimulant, in a pilot study of 6 British bulldogs with BOAS.

Veterinary journal (London, England : 1997)
2026

Serial maternal filicide as evidence of Munchausen syndrome by proxy.

Journal of forensic sciences
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Community Based Pre-School Screening to Detect Developmental, Behavioural, Hearing and Vision Problems in Survivors of Neonatal Cardiac Surgery.

Journal of paediatrics and child health
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General Anesthesia for a Child With Sjögren-Larsson Syndrome.

Anesthesia progress
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CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Frontiers in neurology
2026

Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.

Frontiers in genetics
2026

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international
2026

A visual imagery paradigm for BCI strategies using imagined flickering patterns.

Scientific reports
2026

Dynamic changes in metacognitive mechanisms and symptoms during the attention training technique: Insights from ecological momentary assessment.

Journal of anxiety disorders
2026

Difficulties in diagnosing a pediatric patient with small intestinal bacterial overgrowth.

Einstein (Sao Paulo, Brazil)
2026

Autism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report.

Noro psikiyatri arsivi
2026

Etiological Analysis and Classification of 108 Patients with Infantile Epileptic Spasms Syndrome Based on the 2017 International League Against Epilepsy Classification.

Noro psikiyatri arsivi
2026

Transdiagnostic neuropsychological factors in women with premenstrual dysphoric disorder and premenstrual syndrome: a comparison of the premenstrual and postmenstrual phases.

Archives of women's mental health
2025

Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
2026

Prospective Validation of the New PLS Diagnostic Criteria From PLS Natural History Study: EMG and Neurofilament Analyses.

Muscle &amp; nerve
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Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations.

European journal of human genetics : EJHG
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Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators.

European journal of human genetics : EJHG
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Charles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.

BMJ open ophthalmology
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Targeting Cognitive Dysfunction in Spinocerebellar Ataxia Type 2 Through Digital Cognitive Training.

Cerebellum (London, England)
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Uncovering targets and molecular pathways for personalizing treatment in epilepsy.

Expert opinion on therapeutic targets
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Clinical and Radiological Features of Aphasia Caused by Brainstem Infarction: Two Case Reports.

Cerebellum (London, England)
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Reconsidering the LARS score: a cross-sectional descriptive study exploring complementary screening approaches for low anterior resection syndrome.

International journal of colorectal disease
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Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

The American journal of case reports
2026

Diagnosis and Management of Plummer-Vinson Syndrome in a Female Ghanaian.

Case reports in hematology
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Unexpected severe hypercalcemia in a 6-year-old child with hypoparathyroidism and feeding difficulties.

JCEM case reports
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Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

Genes
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Artificial Intelligence Drives Advances in Multi-Omics Analysis and Precision Medicine for Sepsis.

Biomedicines
2026

Your Mileage May Vary: Individuals with Primary Progressive Aphasia Differ Widely in Their Utilization of Congruent Prosodic and Visual Information During Sentence Comprehension.

Brain sciences
2026

Cystic lung diseases in the daily routine: a comprehensive step-wise algorithm for the radiological diagnosis of cystic lung lesions and diffuse cystic lung diseases.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2026

Emerging role of KDM5C in X-linked intellectual disability based on human genetic data and zebrafish models.

Frontiers in molecular neuroscience
2026

Childhood Sleep Behaviours and Polycystic Ovary Syndrome Risk in Adolescence: The Raine Study Cohort Longitudinal Study.

The Journal of clinical endocrinology and metabolism
2026

Pilot study of psilocybin in patients with post-treatment lyme disease.

Scientific reports
2026

[Tampon use during menstruation among Japanese females].

[Nihon koshu eisei zasshi] Japanese journal of public health
2026

Delayed diagnosis of recurrent embolic strokes from cardiac myxoma coexisting with antiphospholipid syndrome presenting as progressive cognitive decline.

BMJ case reports
2026

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Journal of neuromuscular diseases
2026

Mesenchymal Tumor of the Hand Causing Tumor-Induced Osteomalacia.

Cureus
2026

Collet Sicard syndrome: A rare manifestation of jugular nerve schwannoma.

Radiology case reports
2026

Ectopic Adrenocorticotropic Hormone (ACTH) Syndrome Caused by Mediastinal Carcinoma: A Report of a Rare Case.

Cureus
2026

Health experiences and outcomes of autistic and non-autistic adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder.

BMC medicine
2026

[Long Covid: a long story].

Medecine sciences : M/S
2026

Cannabis Hyperemesis Syndrome: A Psychiatric Approach.

Cureus
2026

Idiopathic Tapia Syndrome Following Routine Orotracheal Intubation in a Young Adult: A Case Report.

Cureus
2026

Stone Heart Syndrome After Aortic Valve Replacement for Severe Aortic Stenosis: A Case Report.

Cureus
2026

Scimitar Syndrome Incidentally Identified During the Workup for Acute Appendicitis in a Young Adult Female: A Case Report.

Cureus
2026

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

Frontiers in psychiatry
2026

Functional Neurologic Symptoms in Multiple Sclerosis: Estimated Prevalence and Associated Comorbidities.

Neurology. Clinical practice
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Ras-Associated Autoimmune Leukoproliferative Disorder Manifesting in an Adult Patient as a Lupus-Like Syndrome and Demonstrating Bone Marrow and Peripheral Blood Findings Reminiscent of Chronic Myelomonocytic Leukemia.

International journal of surgical pathology
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Evaluation of a multidisciplinary neurological rehabilitation program for the post-COVID-19 condition.

Journal of neurology
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Cyclic vomiting syndrome.

Brain &amp; development
2026

Rehabilitation challenges and progress in a patient with sensory ataxic Guillain-Barré syndrome: a case report.

Physiotherapy theory and practice
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[Aortobifemoral bypass surgery using aortic balloon occlusion in patients with total aortic calcification].

Khirurgiia
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Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome.

Cureus
2026

Rome V Pediatric Upper Gastrointestinal Disorders of Gut-Brain Interaction.

Gastroenterology
2026

Cognitive Disengagement Syndrome Symptoms and ADHD Dimensions in Relation To Children's Daily Life Executive Functioning Deficits.

Research on child and adolescent psychopathology
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Microbial Dysbiosis and Pathogenic Interplay in the Gut-Vaginal Axis: Implications for Polycystic Ovary Syndrome: A Critical Review.

Current microbiology
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Immune Checkpoint Inhibitor Myocarditis: When Profound Troponin Elevation Diverges From Unremarkable Imaging.

ESC heart failure
2026

Mixed primary progressive aphasia and alcohol use disorder: a case of detailed clinical phenotyping outperforming molecular imaging.

Neurocase
2026

Intra-anaesthetic asystole in a Bulldog during positioning for brachycephalic obstructive airway syndrome surgery.

Veterinary anaesthesia and analgesia
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[A clinical case of erythromelalgia in a patient comorbid with antiphospholipid syndrome].

Terapevticheskii arkhiv
2026

Validation of the German version of the Subjective Scale to Investigate Cognition in Schizophrenia (SSTICS).

Journal of clinical and experimental neuropsychology
2026

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Journal of inherited metabolic disease
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Alien Hand Syndrome Secondary to Acute Anterior Corpus Callosum Infarction Despite Dual Antiplatelet Therapy: A Case Report.

Cureus
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A rare intersection: Oral carcinoma cuniculatum in the context of Down syndrome.

Journal of oral and maxillofacial pathology : JOMFP
2026

Clinical features of abdominal migraine: a systematic review and summary of data from 662 patients.

Frontiers in neurology
2026

Rapunzel syndrome: Trichobezoar-induced pancreatitis unraveled.

JPGN reports
2026

Maternal and Neonatal Outcomes in Preeclampsia With and Without Proteinuria.

Cureus
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Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Clinical case reports
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Feasibility Study of Modified Underwater Endoscopic Mucosal Resection for Colorectal Polyps.

DEN open
2026

Network models of symptoms following mild traumatic brain injury: A systematic review and meta-analysis.

Journal of the International Neuropsychological Society : JINS
2026

Effectiveness of the low FODMAP diet in patients with irritable bowel syndrome and small intestine bacterial overgrowth syndrome.

Frontiers in nutrition
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What Do Patients Want? Outcome Measures in a Diverse World.

Journal of hand surgery global online
2026

Aspiration pneumonia secondary to GERD (Sandifer syndrome) in a malnourished infant: a case report.

Annals of medicine and surgery (2012)
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Heart-Lung transplantation: Meeting allocation challenges in France.

JHLT open
2026

Cholinergic substrates of gait and postural impairments in Progressive Supranuclear Palsy.

Research square
2026

Symptomatic Ventromedial Scapular Osteochondroma Presenting with Restriction of Shoulder Movements: A Case Report.

Journal of orthopaedic case reports
2026

Characteristics of cognitive disengagement syndrome in children diagnosed with tic disorder.

Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence
2026

Latent transition analysis for longitudinal studies of post-acute infection syndromes.

Nature communications
2026

Recurrent Miller Fisher Syndrome: A Case Report.

Clinical practice and cases in emergency medicine
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A Case of Viral Myositis.

Cureus
2026

Ureteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications.

BMC surgery
2026

Efficacy of heat-treated Lacticaseibacillus paracasei PS23 for individuals with long coronavirus disease-19 syndrome: a double-blinded randomized control pilot study.

Scientific reports
2026

A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.

Journal of child neurology
2025

Case Report: Intensive multidisciplinary motor-cognitive rehabilitation treatment in Gerstmann-Sträussler-Scheinker syndrome.

Frontiers in rehabilitation sciences
2025

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.

Frontiers in neuroscience
2026

Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome: A Case Report.

Cureus
2026

Artificial Intelligence in Gastroenterology: Beyond Diagnostics and Toward Lifestyle and Dietary Interventions For Gastrointestinal Disorders.

Cureus
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Construct validity of instrumented gait assessments in hospital and daily life mobility in patients with Parkinson's disease and atypical Parkinson's syndromes: an exploratory study.

Journal of neurology
2026

The clinician rated suicide crisis syndrome checklist (SCS-C): Structure, reliability, and concurrent validity among adult psychiatric inpatients.

Journal of affective disorders
2026

Gene-targeted versus broad-spectrum therapies in ALS: comparative lessons and strategic outlook.

Journal of genetics and genomics = Yi chuan xue bao
2026

Sex and menopause-based differences in presentation of early Lyme disease: A prospective cohort study.

Clinical and experimental medicine
2026

Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.

Orphanet journal of rare diseases
2026

"Not That I've Become Exceptional, But I'm Able to Make Myself Understood Better": Impact of Speech and Language Therapy on Everyday Communication in People with Primary Progressive Aphasia and Their Carers.

Neurology and therapy
2026

Differences 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 &amp; gerontology international
2026

Uncommon clinical presentations and diagnostic difficulties of antiphospholipid syndrome associated with cryptococcal meningitis: A case study.

Medical mycology case reports
2026

Thyrotoxicosis and Moyamoya Syndrome: A Fatal Intersection of Rare Disorders in a Young Patient With a Background of Hypothyroidism.

Cureus
2026

Severe Diabetic Gastroparesis and Complex Discharge Planning: Home IV Cyclizine As the Only Solution.

Cureus
2026

Percutaneous Coronary Intervention Associated With Contrast-Induced Encephalopathy.

JACC. Case reports
2026

Necrotizing Soft Tissue Infection at a Self-Administered Subcutaneous Etanercept Injection Site in an Immunosuppressed Patient With Rheumatoid Arthritis: A Case Report.

Cureus
2026

In search of "what really matters": Insights from a web-based survey on Patient-Centered Outcomes in GLUT1DS.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2026

Does a TEOAE refer / AABR pass profile at the neonatal hearing screening indicate risk?

International journal of pediatric otorhinolaryngology
2026

Safety and Impacts of Physical Activity for Individuals Living With Hypermobility Spectrum Disorders and Hypermobile Ehlers-Danlos Syndrome: Protocol for a Scoping Review.

JMIR research protocols
2026

Relationships Between Cognitive Disengagement Syndrome, Impulsivity, and Emotion Regulation Among Adolescents.

Journal of child and adolescent psychopharmacology
2026

Bladder Paraganglioma With Rapid Metastasis: A Case Report and Review of the Literature.

Cureus
2026

Understanding tics and neurodevelopmental disorders through lived experience: The first-person experience and the parent perspective.

Handbook of clinical neurology
2026

Beneath the tip of the iceberg: treatment of neuropsychiatric comorbidities in tic disorders.

Handbook of clinical neurology
2026

Tics in autism spectrum and in intellectual disability.

Handbook of clinical neurology
2026

Sleep in tic disorders and Tourette syndrome.

Handbook of clinical neurology
2026

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Neurology. Genetics
2026

Co-occurrence of lung adenocarcinoma with rapidly progressive dementia and multiple cerebral microbleeds: a case report.

Journal of medical case reports
2026

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Klinische Padiatrie
2026

Characterizing early behavioral and social-emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study.

Epilepsia
2025

An 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.

Cureus
2026

A Case of Late Radiation-Induced Enteritis with Enterolith Caused Enterocutaneous Fistula.

Surgical case reports
2025

Anti-VGLUT2 autoantibodies associated with post-COVID neurocognitive dysfunction: a case report.

Frontiers in immunology
2026

Sleep disturbances in children and adolescents with epilepsy: Clinical, polysomnographic and management aspects.

Sleep medicine
2026

Efficacy and tolerability of blue-tinted contact lenses in the treatment of Sunflower syndrome: A questionnaire-based study.

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

Impaired awareness in people with Alzheimer's Disease, Huntington's Disease and Korsakoff's Syndrome: Experiences of professional caregivers.

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

Development and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist: a three-phase mixed-methods study.

Journal of neurodevelopmental disorders
2026

Navigating clinical overlap: A case of polyarteritis nodosa in the setting of antiphospholipid syndrome.

Modern rheumatology case reports
2025

Infantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.

Cureus
2025

Ideational and conceptual apraxia by cerebral infarction in the left basal ganglia and right pons: a case report.

Frontiers in rehabilitation sciences
2025

Diagnostic biomarkers for differentiating AQP4-IgG- negative NMOSD from other nervous system autoimmune disorders: a retrospective study.

Frontiers in immunology
2026

"It's like scratching at the door": Experiences of outpatient buprenorphine low dose initiation among people using fentanyl.

Journal of substance use and addiction treatment
2026

How 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 Diseases
2026

Exploring the functional microbiome of pigs within the porcine respiratory disease complex: viral-bacterial co-infections and virulence factor profiling.

Microbiology spectrum
2025

Genome-wide selection analysis identifies genes associated with mandibular defects in Duolang sheep.

Frontiers in veterinary science
2025

Association Between Sleep Duration and Related Risk Factors with Metabolic Syndrome: A Systematic Review and Meta-analysis.

International journal of preventive medicine
2026

Main histopathological difficulties in diagnosing atypical melanocytic proliferations using MPATH-Dx V2: impact on patient management based on 6006 files referred for second opinions.

Pathology
2026

Development and Validation of the Korean Version of the Rett Syndrome Behavioral Questionnaire.

Children (Basel, Switzerland)
2026

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 sciences
2026

Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.

Diagnostics (Basel, Switzerland)
2026

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

BMC neurology
2026

Clinical 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 open
2026

Altered Mental Status Secondary to Clonidine Addiction and Withdrawal: A Cautionary Tale.

Journal of psychiatric practice
2026

Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.

American journal of medical genetics. Part A
2025

Parental knowledge and barriers to cleft lip and palate care: a cross-cultural study from the Middle East and South Asia.

Frontiers in public health
2025

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.

Cureus
2025

Investigation of Dietary Habits, Anthropometric Profile, and Hormone Levels of Women of Childbearing Age With Polycystic Ovary Syndrome (PCOS).

Cureus
2026

Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.

Biochemical genetics
2025

Does Cognitive Disengagement Syndrome Affect the Cognitive Flexibility of Children with Attention Deficit Hyperactivity Disorder?

The Eurasian journal of medicine
2026

Shared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.

PloS one
2026

Biofluid-based predictors of post-concussion symptoms: a narrative review of mild traumatic brain injury biomarkers.

Brain communications
2025

Interpreter Child Syndrome Leading to Parentification and Anxiety in a Refugee Girl: A Case Report.

Cureus
2026

Variety is Not the Spice of Life: Inconsistent Definitions of Failure After Hip Reconstruction in Cerebral Palsy.

Journal of pediatric orthopedics
2025

Nonspecific Symptoms Attributable to Lyme Disease in High-Incidence Areas, United States, 2017-2021.

Emerging infectious diseases
2025

Functional Limitations and Illness-Related Absenteeism among School-Aged Children with and without Long COVID, United States, 2022-2023.

Emerging infectious diseases
2026

[Moebius syndrome after maternal misoprostol use].

Nederlands tijdschrift voor geneeskunde
2026

Total venous coronary artery bypass grafting for acute myocardial infarction with Leriche syndrome and porcelain aorta: a case report.

Journal of surgical case reports
2025

A case of immune-related adverse events, thyroid dysfunction, myocarditis with myositis, and myasthenia gravis overlap syndrome following serplulimab administration for lung adenocarcinoma.

Immunotherapy
2026

Restless Legs Syndrome: A Review.

JAMA
2025

Static Visual Agnosia Following Awake Resection of a Left Frontal Low-Grade Glioma: A Case Report of Ventral Stream Network Disruption ("Astatopsia").

Reports (MDPI)
2025

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 &amp; Social Medicine
2025

Severe Short Stature, Pathological Fracture, and Avascular Necrosis Due to Prolonged Over-the-Counter Steroid Use in an Adolescent Patient.

Cureus
2026

Optimizing Accessory Pathway Ablation in Coronary Sinus Diverticulum Using Internal Jugular Route With 3D-Mapping.

JACC. Case reports
2026

Current research hotspots and difficulties of chronic prostatitis/chronic pelvic pain syndrome: neuroendocrine mechanism.

Annals of medicine
2026

Medical complications and psychosocial outcomes of adolescent pregnancy in high-income countries: a scoping review.

BMC public health
2026

Long-term benefit of GPi-DBS in YY1-related dystonia: a case report.

Acta neurologica Belgica

Associações

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Comunidades

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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. Tau pathology in epilepsy: emerging mechanisms and translational opportunities.
    Brain : a journal of neurology· 2026· PMID 41871415mais citado
  2. Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.
    European journal of pediatrics· 2026· PMID 41857384mais citado
  3. Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.
    Puerto Rico health sciences journal· 2026· PMID 41842887mais citado
  4. The breath and mind connection in young people with post-COVID syndrome: feasibility and acceptability of a pilot randomised co-designed intervention.
    European journal of pediatrics· 2026· PMID 41840063mais citado
  5. 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
  6. Ortho-surgical management of Arhinia syndrome: A case report.
    Tunis Med· 2025· PMID 41832654recente
  7. Locomotive Syndrome Digital Therapeutics Provided via a Smartphone App: Proof-of-Concept Single-Group Trial Study.
    JMIR Aging· 2026· PMID 41824633recente
  8. Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication.
    Acta Myol· 2025· PMID 41773437recente
  9. Reconsidering the LARS score: a cross-sectional descriptive study exploring complementary screening approaches for low anterior resection syndrome.
    Int J Colorectal Dis· 2026· PMID 41762235recente
  10. Cognitive Disengagement Syndrome Symptoms and ADHD Dimensions in Relation To Children's Daily Life Executive Functioning Deficits.
    Res Child Adolesc Psychopathol· 2026· PMID 41712041recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:238766(Orphanet)
  2. MONDO:0016560(MONDO)
  3. Busca completa no PubMed(PubMed)
  4. 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.

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Síndrome de ptose-sindactilia-dificuldades de aprendizagem
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Síndrome de ptose-sindactilia-dificuldades de aprendizagem

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