Esta síndrome é caracterizada por cegueira noturna, problemas nos ossos como ombros caídos, articulações muito flexíveis (que se dobram demais) e pequenas alterações vistas em exames de raio-X. O rosto também apresenta características específicas, incluindo alterações ao redor dos olhos, maçãs do rosto achatadas e o queixo recuado.
Introdução
O que você precisa saber de cara
Esta síndrome é caracterizada por cegueira noturna, problemas nos ossos como ombros caídos, articulações muito flexíveis (que se dobram demais) e pequenas alterações vistas em exames de raio-X. O rosto também apresenta características específicas, incluindo alterações ao redor dos olhos, maçãs do rosto achatadas e o queixo recuado.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 características clínicas mais associadas, ordenadas por frequência.
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 cegueira noturna-anomalias esqueléticas-dismorfia
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de cegueira noturna-anomalias esqueléticas-dismorfia
Centros para Síndrome de cegueira noturna-anomalias esqueléticas-dismorfia
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
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Unveiling the 12-Hour Ultradian Rhythm: Biological Foundations, Mechanistic Insights, and Potential Applications.
The ~12-h ultradian rhythm (circasemidian) represents an evolutionarily conserved temporal architecture that complements the canonical 24-h circadian clock. Over the past 5 years, mounting evidence has revealed its ubiquity across biological kingdoms, from tidal marine organisms and cyanobacteria to plants, microbiomes, and mammals, including humans, manifesting as intrinsic oscillations in gene expression, metabolism, and behavior that often persist independently of circadian control. In mammals, this rhythm is driven by a cell-autonomous oscillator centered on the XBP1s (X-box binding protein 1)/IRE1α (Inositol requiring enzyme 1 alpha) axis, orchestrating endoplasmic reticulum stress responses and lipid homeostasis through negative feedback regulation, further reinforced by metabolic coupling and bidirectional crosstalk with circadian pathways. Functionally, 12-h oscillations act as a secondary temporal layer that ensures bimodal photostatic and energetic homeostasis, synchronizing multi-organ physiology across the day-night transition. Pathologically, disruption of this rhythm contributes to metabolic syndromes (e.g., NAFLD (non-alcoholic fatty liver disease), diabetes), neuropsychiatric disorders (e.g., schizophrenia), and age-related dysfunctions, particularly within ocular and immune systems. Despite accumulating correlative and model-based evidence, causal mechanisms remain insufficiently defined, and human data are limited. Future work integrating multi-omics chrono profiling, comparative genomics, and clinical chronotherapeutic trials will be critical to delineate this semidiurnal oscillator's molecular architecture and translational potential, thereby advancing precision chrono medicine and expanding the current paradigm of biological timing.
A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.
Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies characterized by the progressive degeneration of photoreceptors, leading to night blindness and gradual loss of peripheral vision. RP is characterized by a substantial genetic heterogeneity, with more than 85 genes implicated across autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies have identified mutations in the ARL3 gene as a causative factor in both syndromic and non-syndromic forms of RP, including autosomal dominant and recessive cases. ARL3 encodes a small GTPase that plays a crucial role in intracellular trafficking, particularly within photoreceptors. This process is critical for maintaining ciliary function and phototransduction. Here, we investigate the pathogenic mechanisms of the ARL3 c.199G>C (p.Asp67His) variant identified in individuals from a four-generation family. We show that mutant ARL3 disrupts normal protein expression and affects ciliogenesis. Clinically affected individuals showed a non-syndromic retinal degenerative RP phenotype, with marked intrafamilial heterogeneity, ranging from extensive retinal atrophy to the absence of clinical manifestation, independent of age. This report highlights the incomplete penetrance and variable expressivity associated with the ARL3 variant and emphasizes the value of combining molecular diagnostics with functional validation to expedite molecular diagnosis.
Nocturnal Atrioventricular Block: Natural History and Clinical Implications.
Atrioventricular block (AVB) occurring exclusively at night has traditionally been considered a result of increased vagal tone and thought to have a favorable prognosis. While nocturnal AVB is generally not an indication for pacemaker implantation, supporting evidence remains limited. This study aimed to assess the natural history of nocturnal AVB. Patients with 2:1, high-degree, or complete AVB (CAVB) detected exclusively during nighttime (21:00-07:00) on 24-hour electrocardiogram (ECG) monitoring were classified as having nocturnal AVB. The primary outcome was pacemaker implantation during the follow-up period. A total of 10,977 individuals underwent 24-hour ECG monitoring in Seoul St. Mary's Hospital between January 2000 and June 2020. Among them, 342 patients were diagnosed with CAVB, high-degree AVB, or 2:1 AVB, and 92 of these 342 patients had nocturnal AVB. Excluding 11 patients lost to follow-up, 81 patients were enrolled. Fourteen patients underwent immediate pacemaker implantation due to daytime bradycardia symptoms, while the remaining 67 patients underwent watchful waiting. During a median follow-up period of 2.4 years, 14 of these 67 patients received pacemaker implantation (n: CAVB 5/14, high-degree AVB 4/14, 2:1 AVB 5/14). The indications for pacemaker insertion included the development of bradycardia symptoms or signs (n = 13) and sick sinus syndrome (n = 1) during the daytime. Despite being asymptomatic during the daytime, 21% (14/67) of patients with nocturnal AVB required pacemaker implantation during a median follow-up period of 2.4 years. These findings suggest that active surveillance is needed even in patients with nocturnal AVB.
Sleep in tic disorders and Tourette syndrome.
Sleep disturbances are highly prevalent in patients with tic disorders and Tourette syndrome, with up to 80% of patients experiencing sleep difficulties. Insomnia is notably present, and pediatric patients often experience parasomnias, including sleepwalking and night terrors. Disruptions in circadian rhythms are also reported, with a pronounced evening chronotype. Concurrently, patients may also suffer from sleep-related movement disorders, and tics are reported to often persist during sleep, further contributing to significant sleep fragmentation. The presence of comorbid attention-deficit hyperactivity disorder may further exacerbate sleep disturbances. Current genetic and neurobiologic evidence suggests shared pathophysiologic mechanisms, particularly involving the dopaminergic system, that underlie both tic manifestations and sleep disruptions. While pharmacologic and nonpharmacologic interventions offer potential therapeutic avenues, their efficacy in a combined tic-sleep disorder context requires further investigation.
Restless Legs Syndrome: A Review.
Restless legs syndrome (RLS) is a sleep-related movement disorder that affects approximately 3% of US adults to a clinically significant extent and can cause substantial sleep disturbance. Restless legs syndrome is characterized by an overwhelming urge to move the limbs, typically the legs, often accompanied by unpleasant limb sensations (eg, achiness, tingling). Symptoms, provoked by immobility, are relieved while moving and are typically present or most severe in the evening or at night. Restless legs syndrome symptoms may lead to difficulty falling asleep, staying asleep, or returning to sleep. According to population-based studies, approximately 8% of US adults experience RLS symptoms of any frequency annually and 3% experience moderately or severely distressing symptoms at least twice weekly. Patients with RLS have impaired quality of life and elevated rates of cardiovascular disease (29.6% with coronary artery disease, stroke, or heart failure), depression (30.4%), and suicidal ideation or self-harm (0.35 cases/1000 person-years). Restless legs syndrome is common among patients with multiple sclerosis (27.5%), end-stage kidney disease (24%), and iron deficiency anemia (23.9%); during pregnancy and especially in the third trimester (22%); with peripheral neuropathy (eg, diabetic, idiopathic; 21.5%); and with Parkinson disease (20%). Other risk factors include family history of RLS, northern European descent, female sex (2:1 vs male sex), and older age (RLS prevalence of 10% in adults ≥65 years). Restless legs syndrome is diagnosed based on clinical history; polysomnography is not recommended for diagnosis. Iron supplementation with ferrous sulfate (325-650 mg daily or every other day) or intravenous iron (1000 mg) should be initiated for serum ferritin level less than or equal to 100 ng/mL or transferrin saturation less than 20%. If possible, medications associated with RLS, including serotonergic antidepressants, dopamine antagonists, and centrally acting H1 antihistamines (eg, diphenhydramine), should be discontinued. Gabapentinoids (eg, gabapentin, gabapentin enacarbil, pregabalin) are first-line pharmacologic therapy. In randomized clinical trials, approximately 70% of patients treated with gabapentinoids had much or very much improved RLS symptoms vs approximately 40% with placebo (P < .001). Dopamine agonists (eg, ropinirole, pramipexole, rotigotine) are no longer recommended as first-line medications due to the risk of augmentation, an iatrogenic worsening of RLS symptoms, which has an annual incidence of 7% to 10% with these medications. Patients who do not improve with first-line treatment or have augmented RLS often benefit from low-dose opioids (eg, methadone 5-10 mg daily). Restless legs syndrome affects approximately 3% of adults and can have negative effects on sleep and quality of life. Initial management includes cessation of exacerbating medications, as well as iron supplementation for patients with low-normal iron indices. If medication therapy is indicated, gabapentinoids are first-line treatment.
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Acta psychologicaReliability and Validity of the Turkish Version of the Atroshi-Lyrén 6-Item CTS Symptoms Scale in Unilateral Carpal Tunnel Syndrome.
Journal of manipulative and physiological therapeuticsThe Effect of Footbath on Premenstrual Syndrome, Sleep Quality, and Quality of Life in University Students with Premenstrual Syndrome: A Randomized Controlled Trial.
Journal of integrative and complementary medicineFever: Harmless Heat or a Deadly Inferno? Unmasking Hemophagocytic Lymphohistiocytosis and Beyond: A Rare Case of Mast Cell Sarcoma and Overview of HLH.
Journal of hematologySleep-disordered breathing in Prader-Willi syndrome: Two illustrative examples.
Respiratory medicine case reportsPhiladelphia Chromosome-Negative Hyperdiploid B-cell Acute Lymphoblastic Leukemia Presenting As Hemophagocytic Lymphohistiocytosis in a Young Adult: A Case Report.
CureusDaytime napping and nighttime sleep and motoric cognitive risk syndrome among Chinese older adults: a nationwide cohort study.
BMC geriatricsEffects of nicotine on sleep architecture and ventilatory parameters: Results of the Tab-OSA cross-sectional observational study.
Sleep medicineLiving With Interstitial Cystitis: A Qualitative Study of Women's Experiences.
Western journal of nursing researchThe stronger predictive role of early life exposures versus current lifestyle behaviors on the development of childhood severe obesity and metabolic dysfunction.
BMC pediatricsNight shift work increases the risk of developing irritable bowel syndrome: a prospective cohort study in the UK Biobank.
Frontiers in public healthTime-Dependent Metabolic Response in Sepsis Severity: The Influence of Glucose in the Disease Outcome.
Journal of biological rhythmsSleep disturbance in children with prenatal alcohol exposure: a systematic review and meta-analysis.
Sleep medicine reviewsProspective Assessment of Mood and Quality of Life in Cushing syndrome before and after Biochemical Control.
The Journal of clinical endocrinology and metabolismHantavirus infections and small mammal diversity in Chile: No differences between protected and unprotected areas highlight the need for public health strategies.
PLoS neglected tropical diseasesDiagnostic Challenges in HHV-8-Associated Multicentric Castleman Disease in a Patient with Prior Kaposi Sarcoma.
Dermatopathology (Basel, Switzerland)From eveningness to food addiction: exploring the roles of night eating syndrome and mindful eating.
Journal of eating disordersPLMS is associated with low arousal threshold and favorable upper airway patency in patients with OSA.
Sleep medicineA Decade With Sheehan's Syndrome: A Case Report and Personal Experience.
Case reports in endocrinologyChallenges in the treatment of hypothyroidism: malabsorption and pseudo-malabsorption of levothyroxine.
MedicinaUnveiling night eating syndrome: how it connects to mental health, insomnia, and quality of life in university students-a cross-sectional study.
Journal of eating disordersThe Impact of Polycystic Ovary Syndrome on Mood Disorders: A Cross-Sectional Questionnaire Study on Chronotypes, Social Jetlag, and Night Eating Habits.
Journal of clinical medicineAssessment of a novel patient reported outcome measure for visual snow syndrome: the Colorado visual snow survey 2.0.
Frontiers in neurologyNeoehrlichia mikurensis-associated secondary capillary leak syndrome and septic shock: a case report.
Journal of medical case reportsOptimising clinical trial methods for complex regional pain syndrome: a methodological framework (OptiMeth-CRPS).
Pain reportsImposter in the brain: aetiological, clinical and neuroimaging characteristics of Capgras syndrome.
Brain : a journal of neurologyEffect of zinc-containing pessaries on menopausal genitourinary syndrome, a double-blind randomised trial.
BMC women's healthTriage for night eating syndrome (NES) in pregnant women: a cross-sectional pilot study.
Hormones (Athens, Greece)Association between obstructive sleep apnea and male reproductive function: a cross-sectional study with stratified analysis.
Frontiers in endocrinologyThe relationship between perceived stress and night eating moderated by personality: Cognitive emotion regulation as a mediator.
AppetiteSleep, interrupted - when short nights take their toll.
Biomedical journalSleep and Cardiometabolic Health: A Narrative Review of Epidemiological Evidence, Mechanisms, and Interventions.
International journal of general medicineThe Association Between Night Shifts and Irritable Bowel Syndrome.
Journal of gastroenterology and hepatologyPatient-reported outcomes and functional recovery after carpal tunnel surgery in a developing health care system: insights from clinical practice.
Scientific reportsUnderestimation of nocturnal sleep duration in central disorders of hypersomnolence: an underrecognized feature?
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineAssessment of the Change of Blood pressure, Serum Total Cholesterol in Post Menopausal Women.
Mymensingh medical journal : MMJTechnological Aspects, Challenges and Applications of Pulsatile Drug Delivery System-A Critical Review.
Current drug deliveryPrevalence and associated factors of eating disorders in adults with type 2 diabetes: a systematic review.
Journal of eating disordersImplementing a Mixed Health Service Model as an Informed Modality to Enhance Prevention and Promote Workplace Health in the Greek Regional Public Sector: A Pilot Study in Crete.
Healthcare (Basel, Switzerland)Nyctalopia Due to Vitamin A Deficiency Secondary to Short Bowel Syndrome: When the Electroretinogram Is the Diagnostic Key.
Brain sciencesDexamethasone Suppression Testing in Patients with Adrenal Incidentalomas with/Without Mild Autonomous Cortisol Secretion: Spectrum of Cortisol Cutoffs and Additional Assays (An Updated Analysis).
BiomedicinesFeasibility of High-Resolution Oximeter Plus Actigraphy Combined with a Cloud-Based Algorithm for the Detection of Obstructive Sleep Apnea in Children with Craniofacial Anomalies.
Sleep science (Sao Paulo, Brazil)Polycystic Ovary Syndrome and Sleep Disturbance in Postmenopausal Women: Study of Women's Health Across the Nation.
The Journal of clinical endocrinology and metabolismNight eating symptoms impact body mass index through sleep-related factors rather than depressive symptoms and impulsivity: Evidence from a medical student population.
Journal of health psychologySleep and chrononutrition: a narrative review.
Sleep and biological rhythmsA case of choroidal neovascular membrane in Enhanced S-Cone Syndrome treated with Aflibercept.
Retinal cases & brief reportsObstructive sleep apnea, periodic limb movements, and REM sleep without atonia are common in Parkinson's disease and correlate with motor symptom burden.
Journal of Parkinson's diseasePharmacological and psychosocial interventions for night eating syndrome in adults.
Frontiers in psychiatryClinicopathological Challenge: Fixed Urticaria-Like Pink Papules in a Patient With Recurrent Fevers and Arthralgias.
International journal of dermatologyExpanding the Clinical Profile of Mild Autonomous Cortisol Secretion: New Diagnostic Markers and Emerging Complications.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsProspective study of metyrapone in endogenous Cushing's syndrome (PROMPT).
European journal of endocrinologyImpact of obstructive sleep apnea severity and treatment on COVID-19 vaccine-induced immune responses.
Journal of thoracic diseaseDeterminants and rate of long-term adherence to continuous positive -airway pressure in obstructive sleep apnea: a multicenter retrospective study.
Multidisciplinary respiratory medicineCase Series and Literature Review on Phenotypic Variants of Restless Legs Syndrome (RLS): A Unique Phase of Typical RLS?
Nature and science of sleepHippocrates, Galen, and the patient with epilepsy. Some new perspectives on the old masters.
Epilepsy & behavior : E&BAssociations of Circadian and Metabolic Syndromes with Cardiovascular Diseases and Diabetes in Qatar: A Cross-Sectional Study.
Diabetes, metabolic syndrome and obesity : targets and therapySleep Disturbances and Metabolic Syndrome in Shift Workers: A Systematic Review.
Metabolic syndrome and related disordersNight Eating Syndrome and Associated Psychosocial Health Profile among Medical Students: A Cross-Sectional Study in Central India.
The International journal of social psychiatryRestless Eyes at Night: A Novel Variant of Restless Legs Syndrome.
European journal of case reports in internal medicineAssociations of Sleep Duration and Social Jetlag with Dry Eye Disease in Chinese School-Aged Children and Adolescents.
Nature and science of sleepLong-term outcomes and survival predictors in patients with ectopic ACTH syndrome: data from a retrospective cohort study.
Endocrine connectionsPreliminary investigation of obstructive sleep apnea and Alzheimer's disease in down syndrome.
Sleep advances : a journal of the Sleep Research SocietyClinical Utility of Salivary Steroid Profiling for the Differential Diagnosis of Adrenal Diseases.
The Journal of clinical endocrinology and metabolismEffects of a two-night hospitalization program as a specific health guidance on obesity and cardiovascular disease risk factors.
Journal of general and family medicinePathophysiology and pharmacological management for sleep problems in Parkinson's disease.
Journal of Parkinson's diseaseA Severe Form of Mpox Infection and the Current Epidemiological Status in Romania.
MicroorganismsGastrointestinal Symptoms and the Assessment of Diet in Shift Workers: A Systematic Scoping Review.
Journal of human nutrition and dietetics : the official journal of the British Dietetic AssociationEstrogen signaling is necessary for the sex difference in simulated jet lag in mice.
American journal of physiology. Endocrinology and metabolismPerceived prevalence, risk factors, and reported management of delirium in critically ill emergency patients: a survey of physicians in China.
Postgraduate medical journalThe association between insomnia, chronotype, and positive airway pressure adherence in children and adolescents.
Sleep medicineThirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.
Journal of personalized medicinePrevalence and associated factors of eating disorders among metabolic bariatric surgery patients in Egypt.
Journal of eating disordersBurnout syndrome and sleep quality in nurses.
Revista brasileira de medicina do trabalho : publicacao oficial da Associacao Nacional de Medicina do Trabalho-ANAMTEffect of lemborexant on sleep parameters and architecture in adult and elderly participants with mild-to-severe obstructive sleep apnea.
Sleep medicineAssociation between dim light melatonin onset predicted from gene expression profiles with sleep time and chronotype preference: A pilot study.
Chronobiology internationalEvaluating the Association Between Educational Status and Carpal Tunnel Syndrome Presentations and Severity.
Advances in orthopedicsBeyond the Pleura: A Case Report of Type 1 Brugada Phenocopy in the Setting of Empyema.
CureusRetinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report.
Ophthalmic geneticsPromotion of Preventive Sleep Research from the Perspective of Health and Public Safety in Japan - Secondary Publication.
JMA journalA case of infective endocarditis with the manifestation of multi-organ embolisms: a case report.
Cardiovascular journal of AfricaDaridorexant and Insomnia in Clinical Practice: A Nominal Group Technique Consensus Study among Italian Sleep and Insomnia Experts.
Current neuropharmacologyPreoperative Eating Patterns and Their Effect on Post-operative Outcomes in Metabolic and Bariatric Surgery: A Cohort Study of 1550 Patients.
Obesity surgeryNight-shift work and its association with metabolic syndrome.
Medicine[Impact of Androgen Deprivation Therapy on Lower Urinary Tract Function in Patients with Prostate Cancer].
Hinyokika kiyo. Acta urologica JaponicaIndependent and combined relationships between light at night, air pollutants, PM2.5 components and risk of cardiovascular-kidney-metabolic syndrome: a cohort study.
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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.
- Unveiling the 12-Hour Ultradian Rhythm: Biological Foundations, Mechanistic Insights, and Potential Applications.
- A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.
- Nocturnal Atrioventricular Block: Natural History and Clinical Implications.
- Sleep in tic disorders and Tourette syndrome.
- Restless Legs Syndrome: A Review.
- Abduction-Release Sign in Heavy Eye Syndrome.
- Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
- A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
- Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
- Potential mechanisms of the glucocorticoid withdrawal syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1390(Orphanet)
- MONDO:0015326(MONDO)
- GARD:3994(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785398(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
