Raras
Buscar doenças, sintomas, genes...
Síndrome de cegueira noturna-anomalias esqueléticas-dismorfia
ORPHA:1390CID-10 · Q87.8DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
27.042 artigos
Último publicado: 2026 Apr 17

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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

Partes do corpo afetadas

😀
Face
5 sintomas
🦴
Ossos e articulações
4 sintomas
👁️
Olhos
4 sintomas
🧠
Neurológico
2 sintomas
👂
Ouvidos
1 sintomas
🦷
Dentes
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Achatamento malar
Muito frequente (99-80%)
90%prev.
Ombros inclinados para baixo
Muito frequente (99-80%)
90%prev.
Sinofris
Muito frequente (99-80%)
90%prev.
Retrognatia
Muito frequente (99-80%)
90%prev.
Hipermobilidade articular
Muito frequente (99-80%)
90%prev.
Eletroretinograma anormal
Muito frequente (99-80%)
23sintomas
Muito frequente (14)
Frequente (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 características clínicas mais associadas, ordenadas por frequência.

Achatamento malarMalar flattening
Muito frequente (99-80%)90%
Ombros inclinados para baixoDown-sloping shoulders
Muito frequente (99-80%)90%
SinofrisSynophrys
Muito frequente (99-80%)90%
RetrognatiaRetrognathia
Muito frequente (99-80%)90%
Hipermobilidade articularJoint hypermobility
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico27.042PubMed
Últimos 10 anos200publicações
Pico2025126 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

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Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
7.533 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 7.533

#1

Unveiling the 12-Hour Ultradian Rhythm: Biological Foundations, Mechanistic Insights, and Potential Applications.

Cell biochemistry and function2026 Mar

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.

#2

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

International journal of molecular sciences2026 Mar 03

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.

#3

Nocturnal Atrioventricular Block: Natural History and Clinical Implications.

Journal of Korean medical science2026 Feb 23

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.

#4

Sleep in tic disorders and Tourette syndrome.

Handbook of clinical neurology2026

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.

#5

Restless Legs Syndrome: A Review.

JAMA2026 Feb 24

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.

Publicações recentes

Ver todas no PubMed

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2026

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

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

The interplay of night eating syndrome with resting metabolic rate, anthropometric measures, and sleep quality in normal-weight female university students: a case-control study.

Journal of eating disorders
2026

Unveiling the 12-Hour Ultradian Rhythm: Biological Foundations, Mechanistic Insights, and Potential Applications.

Cell biochemistry and function
2026

Synergistic effects of short sleep duration and metabolic syndrome on major adverse cardiovascular events in older adults with obstructive sleep Apnea: A prospective cohort study.

Sleep medicine
2026

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

Journal of medical case reports
2026

Application of a knowledge, attitude, belief, and practice model in CPAP treatment of patients with OSAHS.

Respiratory medicine
2026

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

International journal of molecular sciences
2026

Behavioral-Gastrointestinal Interaction Between Night Eating Syndrome and GERD Among Saudi Adults: Implications for Clinical Screening and Lifestyle-Based Care.

Healthcare (Basel, Switzerland)
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Air, Noise, and Light Pollution and Thromboembolic Cardiovascular Complications: A TH Scientific Statement.

Thrombosis and haemostasis
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Beyond diagnosis: a network approach to the emotional and control processes involved in the binge eating spectrum disorders.

Scientific reports
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[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2026

Adverse Events and Intraocular Pressure-Lowering Effect of Topical 0.5% Apraclonidine in Childhood Glaucoma: A Retrospective Single-Center Study.

Ophthalmology. Glaucoma
2026

Somatic mosaicism of a novel USH2A variant in Usher syndrome.

Ophthalmic genetics
2026

Antidepressant withdrawal-induced de novo restless legs syndrome: a case report.

Sleep medicine
2026

Impacts of Alagille syndrome on sleep of patients and their caregivers.

Sleep medicine
2026

Evaluating the real-world safety of cholestyramine for the treatment of hyperlipidemia: disproportionality analysis of FAERS data.

Frontiers in medicine
2026

Ultrasound-Guided Percutaneous Needle Electrolysis Versus Surgery for Carpal Tunnel Syndrome: A Randomized Clinical Trial.

Healthcare (Basel, Switzerland)
2026

Nocturnal Atrioventricular Block: Natural History and Clinical Implications.

Journal of Korean medical science
2026

Sleep physiology associated with cognitive disengagement syndrome in adolescents with and without ADHD.

Sleep medicine
2026

Pathofysiological and clinical correlates of sleep in primary headache disorders: A narrative review.

Sleep medicine
2026

From hypercortisolism to remission: impact of Cushing's disease on eating patterns.

Frontiers in endocrinology
2025

Abnormal Blood Pressure Dipping Pattern in Women with Hypopituitarism Secondary to Sheehan Syndrome: A Case-Control Study.

Sisli Etfal Hastanesi tip bulteni
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Preventing Cushing Syndrome: Adrenalectomy in PDE11A-Positive Primary Pigmented Nodular Adrenocortical Disease.

JCEM case reports
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Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature.

F&amp;S reports
2026

Prevalence and predictors of computer vision syndrome and ocular surface disease symptoms among adult females in Jordan: A cross-sectional study.

Medicine
2026

Clinical implications and feasibility of cerebral autoregulation-based precision blood pressure monitoring in major noncardiac surgery: A protocol for AUTOREGULATE-NONCARDIAC, a multicentre prospective cohort study and peri-operative precision medicine platform.

European journal of anaesthesiology and intensive care
2026

Translation, Cultural Adaptation, and Psychometric Validation of the Iranian Version of the Eating Behavior Assessment Questionnaire for Obesity (EBA-O) in Adults with Obesity and Overweight.

Nutrients
2026

Irritable bowel syndrome among Norwegian nurses - associations with insomnia, excessive sleepiness, shift work disorder and shift work schedule.

BMC nursing
2025

Effect of self-viewing of sleep-apnoea videos on positive airway pressure adherence in moderate to severe obstructive sleep apnoea: a prospective, parallel-group, randomised controlled trial.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2026

Latent profiles of occupational stress and their association with premenstrual syndrome: a cross-sectional study of Chinese nurses.

Frontiers in public health
2026

Supravalvular aortic stenosis with aneurysmal dilation and infective vegetations of the aortic arch in a pediatric patient with Williams syndrome: a case report and review of the literature.

Journal of medical case reports
2026

Sciatic nerve compression as a cause of severe chronic pain after total knee replacement: a case report.

The Knee
2026

Nocturnal emissions or wet dreams: modern evidence from a systematic scoping review.

Sexual medicine reviews
2026

[Ocular manifestations of Malan syndrome: a case report].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2026

Resolution of Refractory Nonislet Cell Tumor Hypoglycemia Following Resection of an Abdominal Solitary Fibrous Tumor.

AACE endocrinology and diabetes
2026

Sleep in tic disorders and Tourette syndrome.

Handbook of clinical neurology
2026

A High Anticholinergic Burden Is Independently Associated With Nocturia in Turkish Older Women.

Lower urinary tract symptoms
2025

A Statistical Study of Attention Deficit/Hyperactivity Disorder, Attention Deficit Disorder, and Hyperactivity and Their Relation to Sleep-Disordered Breathing.

Compendium of continuing education in dentistry (Jamesburg, N.J. : 1995)
2026

Restless Legs Syndrome Associated With Fexofenadine Use: A Case Report.

Clinical case reports
2026

Feasibility of implementing a multi-component intervention of environmental control in mechanically ventilated ICU patients to improve sleep: A pilot randomized controlled trial.

Intensive &amp; critical care nursing
2026

Evaluation of muscle strength assessment in adolescent polycystic ovary syndrome: a case control study.

BMC women's health
2026

Sleep in children with spinal muscular atrophy and their caregivers: Exploring sleep problems and the need for care.

Research in developmental disabilities
2025

Obesity and metabolic disease in migrants: a role for the gut microbiome?

Frontiers in clinical diabetes and healthcare
2026

Health conditions in aircrew - Association with neurotoxic substances and other occupational factors.

Journal of occupational and environmental hygiene
2026

[Consensus document on healthy lifestyles].

Nutricion hospitalaria
2025

Changes of the cardiac electrical cycle in type 1 diabetes during hypoglycaemia - a prospective observational study.

Frontiers in endocrinology
2026

Unmasking Mycobacterium avium: two case reports of cutaneous lesions in HIV patients after initiation of an integrase inhibitor-based regimen.

BMC infectious diseases
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Restless Legs Syndrome: A Review.

JAMA
2025

Investigating the Impact of Night Eating Disorder Upon Quality of Life Among University College Students, India.

Indian journal of community medicine : official publication of Indian Association of Preventive &amp; Social Medicine
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Joint association of cumulative workplace environmental exposures and shift work with long-term work-limiting health conditions: a prospective cohort study from the UK Biobank.

BMJ public health
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Grave's disease as a manifestation of immune reconstitution inflammatory syndrome in an HIV-infected child on highly active antiretroviral therapy: A case report.

IDCases
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Acute ketamine withdrawal disrupts memory and monoaminergic neurotransmission in adolescent female rats.

Behavioural brain research
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Comparison of the effectiveness of platelet-rich plasma (PRP) injection and steroid injection in patients with bilateral moderate carpal tunnel syndrome: a prospective randomized controlled trial.

Injury
2026

Night-eating syndrome is associated with food consumption frequency among Chinese college students.

Scientific reports
2026

Night eating syndrome in liver transplant recipients with diabetes or excess-weight: a cross-sectional study.

Nutrition, metabolism, and cardiovascular diseases : NMCD
2026

Impact of Palatal Expansion With Up-Locker on Children With Sleep-Disordered-Breathing: A Clinical Trial.

Pediatric pulmonology
2026

A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian family.

Ophthalmic genetics
2026

Recurrent pulmonary tuberculosis in a child with primary ciliary dyskinesia: a rare association.

Paediatrics and international child health
2026

Exploring Self-Management Strategies: A Qualitative Analysis of Lives Affected by Low Anterior Resection Syndrome Through an Online Peer Support Forum in a Multicenter Randomized Controlled Trial.

Diseases of the colon and rectum
2026

Insulin levels early in perimenopause inform vasomotor symptom incidence across the menopausal transition.

The Journal of clinical endocrinology and metabolism
2025

Proteinuria With Functionally Normal Kidneys: A Hidden Clue to the Diagnosis of Diffuse Large B-cell Lymphoma (DLBCL) With Secondary Glomerular Infiltration.

Cureus
2025

Symptomatic vitamin A deficiency in a paediatric patient with short bowel syndrome.

BMJ case reports
2025

Impact of Obstructive Sleep Apnea-Hypopnea Syndrome Severity on Heart Rate Variability and QTc Interval in Hypertensive Patients.

Medicina (Kaunas, Lithuania)
2025

Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.

Molecular biology reports
2026

The association between chronotype and metabolic syndrome in middle-aged Japanese civil servants: A longitudinal study from Aichi Workers' Cohort.

Chronobiology international
2025

Association Between Seasonal Factors and Severity of Obstructive Sleep Apnea-Hypopnea Syndrome in Children.

Clinical pediatrics
2025

Successful Treatment of Exploding Head Syndrome With Ketamine.

Cureus
2026

Sex-specific changes and age-specific trends in sleep quality and sleep apnea: Analysis of one-million nights of sleep.

Sleep medicine
2025

Shapiro Syndrome: A Case Report.

Cureus
2025

Role of leisure and sleep in promoting daily physical activity in adults with down syndrome.

Health psychology and behavioral medicine
2025

Efficacy of atomoxetine and oxybutynin in the treatment of pediatric obstructive sleep apnea, a three case report.

Frontiers in sleep
2026

U-shaped association between outdoor artificial light at night exposure and metabolic syndrome in Chinese youth: Findings from a nationally representative study.

Environmental pollution (Barking, Essex : 1987)
2026

Associations of concomitant exposure to outdoor light at night, air pollution, and greenness with metabolic syndrome: A cohort study in China.

Environmental research
2025

Blue light modulates the interactive effects of far-red light and day-night temperature difference on the growth, morphology and physiology of arugula and lettuce.

Frontiers in plant science
2025

Prevalence and correlates of night eating syndrome among Chinese nurses: focus on depression and sleep quality.

Frontiers in public health
2026

Limosilactobacillus reuteri NCU-37 alleviates leuprorelin-induced perimenopausal syndrome in infertile women by modulating the gut microbiota: a randomized controlled trial.

Food &amp; function
2025

The association between sarcoidosis and lymphoma: a retrospective and multicentre study of 46 patients.

Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG
2025

Impact of artificial light at night on obesity and overweight: a systematic review and meta-analysis.

BMC public health
2025

[The night has many faces: When schistocytes step out of line].

Praxis
2025

Association Between Physical Activity Levels and Chronic Disease Risk Among Korean Adults with Sleep Deficiency.

Journal of clinical medicine
2025

Feasibility of sleep assessment modalities in children with Lennox-Gastaut syndrome.

Seminars in pediatric neurology
2025

Who and how to screen for Cushing's syndrome: the position statement of the Italian Society of Endocrinology.

Journal of endocrinological investigation
2026

The Leucine-mTOR-Autophagy Axis in Granulosa Cells Mediates Circadian Disruption-Induced Anovulation.

International journal of biological sciences
2025

Sacral Nerve Stimulation and Chronic Bladder Pain: Meta-Analysis.

Neuromodulation : journal of the International Neuromodulation Society
2025

Genitourinary Tuberculosis in a Young Male With Advanced Human Immunodeficiency Virus (HIV) Diagnosed via Urinary Lipoarabinomannan Antigen (TB-LAM): A Case Report From a High-Burden Setting.

Cureus
2025

Risk model for depression in patients with chronic prostatitis/chronic pelvic pain syndrome: A retrospective cross-sectional study.

The Journal of international medical research
2026

Reliability of Actigraphy for the Assessment of Sleep and Circadian Rhythms in Rett and Related Syndromes.

Journal of intellectual disability research : JIDR
2025

Development of an Algorithm for Extracting Limb Movement Candidates Using Surface Electromyography.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2025

Day and Night Patterns of Heart Rate Variability in Type 2 Diabetes: Gender and Microvascular Complications Considerations in Normal and Micro-albuminuria.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2025

Resolution of chronic idiopathic urticaria with setmelanotide in a patient with Bardet-Biedl Syndrome: A case report.

Obesity pillars
2025

Nocturnal enuresis in adults with obstructive sleep apnea hypopnea syndrome: A case report and a literature review.

Medicine
2025

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Frontiers in genetics
2025

[New recommedations in the treatment of restless legs syndrome - dopaminergic drugs on the way out].

Laeknabladid
2025

High Prevalence of Disorders of Irritable Bowel Syndrome and Functional Dyspepsia in Night Shift Workers: A Cross-sectional Study in Australia and the United Kingdom.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2025

Predictors of Depression among Individuals with OSAS: A Cross-Sectional Study from Turkiye.

Nigerian journal of clinical practice
2025

Artificial Light at Night, Sleep Disruption, and Liver Health: Implications for MASLD Pathogenesis.

International journal of environmental research and public health
2025

Melatonin and Cortisol Suppression and Circadian Rhythm Disruption in Burnout Among Healthcare Professionals: A Systematic Review.

Clinics and practice
2025

Secondary Hemophagocytic Lymphohistiocytosis in a Patient With Crohn's Disease Receiving Infliximab: A Diagnostic Challenge.

Cureus
2025

Co-Occurring Conditions and Sleep Symptoms Associated With Obstructive Sleep Apnea in Children With Down Syndrome.

Pediatric pulmonology
2025

Magnitude of risky sexual behavior and associated factors among secondary school students in southern Ethiopia, 2023.

Journal of public health research
2025

From physiology to psychology: An integrative review of menopausal syndrome.

World journal of psychiatry
2025

Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.

International journal of ophthalmology
2025

Characterization of sympathicotonia in post-covid condition (long covid) and healthy controls using long-term electrodermal activity (EDA) follow-up.

Clinical physiology and functional imaging
2025

Harlequin syndrome following paravertebral block adjacent to a stretched pleura: a case report.

BMC anesthesiology
2025

Estimation of cortisol exposure in patients with adrenal incidentalomas.

BMC endocrine disorders
2025

Experiences of sleep problems, subsequent daytime consequences, and self-care activities used to improve sleep among patients with restless legs syndrome: a qualitative content analysis.

Journal of research in nursing : JRN
2025

Case Report: First pulmonary infection caused by Mycobacterium colombiense in a non-immunosuppressed host with bronchiectasis: diagnosis facilitated by synergistic mNGS and culture.

Frontiers in medicine
2025

Cognitive behavioral treatment for Sexsomnia (CBT-S). Case report and literature review.

CNS spectrums
2025

Early risk factors for acute chest syndrome in sickle cell anemia: A pediatric study.

PloS one
2025

Predi̇cti̇ng the severi̇ty of obstructi̇ve sleep apnea usi̇ng arti̇fi̇ci̇al intelli̇gence tools.

Annals of thoracic medicine
2025

A cross-sectional multifactorial analysis of chrononutrition, sleep quality and sleep patterns among healthcare shift workers.

Acta psychologica
2025

Reliability 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 therapeutics
2025

The 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 medicine
2025

Fever: Harmless Heat or a Deadly Inferno? Unmasking Hemophagocytic Lymphohistiocytosis and Beyond: A Rare Case of Mast Cell Sarcoma and Overview of HLH.

Journal of hematology
2025

Sleep-disordered breathing in Prader-Willi syndrome: Two illustrative examples.

Respiratory medicine case reports
2025

Philadelphia Chromosome-Negative Hyperdiploid B-cell Acute Lymphoblastic Leukemia Presenting As Hemophagocytic Lymphohistiocytosis in a Young Adult: A Case Report.

Cureus
2025

Daytime napping and nighttime sleep and motoric cognitive risk syndrome among Chinese older adults: a nationwide cohort study.

BMC geriatrics
2026

Effects of nicotine on sleep architecture and ventilatory parameters: Results of the Tab-OSA cross-sectional observational study.

Sleep medicine
2026

Living With Interstitial Cystitis: A Qualitative Study of Women's Experiences.

Western journal of nursing research
2025

The stronger predictive role of early life exposures versus current lifestyle behaviors on the development of childhood severe obesity and metabolic dysfunction.

BMC pediatrics
2025

Night shift work increases the risk of developing irritable bowel syndrome: a prospective cohort study in the UK Biobank.

Frontiers in public health
2026

Time-Dependent Metabolic Response in Sepsis Severity: The Influence of Glucose in the Disease Outcome.

Journal of biological rhythms
2025

Sleep disturbance in children with prenatal alcohol exposure: a systematic review and meta-analysis.

Sleep medicine reviews
2025

Prospective Assessment of Mood and Quality of Life in Cushing syndrome before and after Biochemical Control.

The Journal of clinical endocrinology and metabolism
2025

Hantavirus infections and small mammal diversity in Chile: No differences between protected and unprotected areas highlight the need for public health strategies.

PLoS neglected tropical diseases
2025

Diagnostic Challenges in HHV-8-Associated Multicentric Castleman Disease in a Patient with Prior Kaposi Sarcoma.

Dermatopathology (Basel, Switzerland)
2025

From eveningness to food addiction: exploring the roles of night eating syndrome and mindful eating.

Journal of eating disorders
2025

PLMS is associated with low arousal threshold and favorable upper airway patency in patients with OSA.

Sleep medicine
2025

A Decade With Sheehan's Syndrome: A Case Report and Personal Experience.

Case reports in endocrinology
2025

Challenges in the treatment of hypothyroidism: malabsorption and pseudo-malabsorption of levothyroxine.

Medicina
2025

Unveiling night eating syndrome: how it connects to mental health, insomnia, and quality of life in university students-a cross-sectional study.

Journal of eating disorders
2025

The Impact of Polycystic Ovary Syndrome on Mood Disorders: A Cross-Sectional Questionnaire Study on Chronotypes, Social Jetlag, and Night Eating Habits.

Journal of clinical medicine
2025

Assessment of a novel patient reported outcome measure for visual snow syndrome: the Colorado visual snow survey 2.0.

Frontiers in neurology
2025

Neoehrlichia mikurensis-associated secondary capillary leak syndrome and septic shock: a case report.

Journal of medical case reports
2025

Optimising clinical trial methods for complex regional pain syndrome: a methodological framework (OptiMeth-CRPS).

Pain reports
2025

Imposter in the brain: aetiological, clinical and neuroimaging characteristics of Capgras syndrome.

Brain : a journal of neurology
2025

Effect of zinc-containing pessaries on menopausal genitourinary syndrome, a double-blind randomised trial.

BMC women's health
2026

Triage for night eating syndrome (NES) in pregnant women: a cross-sectional pilot study.

Hormones (Athens, Greece)
2025

Association between obstructive sleep apnea and male reproductive function: a cross-sectional study with stratified analysis.

Frontiers in endocrinology
2026

The relationship between perceived stress and night eating moderated by personality: Cognitive emotion regulation as a mediator.

Appetite
2025

Sleep, interrupted - when short nights take their toll.

Biomedical journal
2025

Sleep and Cardiometabolic Health: A Narrative Review of Epidemiological Evidence, Mechanisms, and Interventions.

International journal of general medicine
2025

The Association Between Night Shifts and Irritable Bowel Syndrome.

Journal of gastroenterology and hepatology
2025

Patient-reported outcomes and functional recovery after carpal tunnel surgery in a developing health care system: insights from clinical practice.

Scientific reports
2025

Underestimation 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 Medicine
2025

Assessment of the Change of Blood pressure, Serum Total Cholesterol in Post Menopausal Women.

Mymensingh medical journal : MMJ
2025

Technological Aspects, Challenges and Applications of Pulsatile Drug Delivery System-A Critical Review.

Current drug delivery
2025

Prevalence and associated factors of eating disorders in adults with type 2 diabetes: a systematic review.

Journal of eating disorders
2025

Implementing 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)
2025

Nyctalopia Due to Vitamin A Deficiency Secondary to Short Bowel Syndrome: When the Electroretinogram Is the Diagnostic Key.

Brain sciences
2025

Dexamethasone Suppression Testing in Patients with Adrenal Incidentalomas with/Without Mild Autonomous Cortisol Secretion: Spectrum of Cortisol Cutoffs and Additional Assays (An Updated Analysis).

Biomedicines
2025

Feasibility 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)
2026

Polycystic Ovary Syndrome and Sleep Disturbance in Postmenopausal Women: Study of Women's Health Across the Nation.

The Journal of clinical endocrinology and metabolism
2026

Night 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 psychology
2025

Sleep and chrononutrition: a narrative review.

Sleep and biological rhythms
2025

A case of choroidal neovascular membrane in Enhanced S-Cone Syndrome treated with Aflibercept.

Retinal cases &amp; brief reports
2025

Obstructive 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 disease
2025

Pharmacological and psychosocial interventions for night eating syndrome in adults.

Frontiers in psychiatry
2026

Clinicopathological Challenge: Fixed Urticaria-Like Pink Papules in a Patient With Recurrent Fevers and Arthralgias.

International journal of dermatology
2026

Expanding 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 Endocrinologists
2025

Prospective study of metyrapone in endogenous Cushing's syndrome (PROMPT).

European journal of endocrinology
2025

Impact of obstructive sleep apnea severity and treatment on COVID-19 vaccine-induced immune responses.

Journal of thoracic disease
2025

Determinants and rate of long-term adherence to continuous positive -airway pressure in obstructive sleep apnea: a multicenter retrospective study.

Multidisciplinary respiratory medicine
2025

Case Series and Literature Review on Phenotypic Variants of Restless Legs Syndrome (RLS): A Unique Phase of Typical RLS?

Nature and science of sleep
2025

Hippocrates, Galen, and the patient with epilepsy. Some new perspectives on the old masters.

Epilepsy &amp; behavior : E&amp;B
2025

Associations of Circadian and Metabolic Syndromes with Cardiovascular Diseases and Diabetes in Qatar: A Cross-Sectional Study.

Diabetes, metabolic syndrome and obesity : targets and therapy
2025

Sleep Disturbances and Metabolic Syndrome in Shift Workers: A Systematic Review.

Metabolic syndrome and related disorders
2025

Night Eating Syndrome and Associated Psychosocial Health Profile among Medical Students: A Cross-Sectional Study in Central India.

The International journal of social psychiatry
2025

Restless Eyes at Night: A Novel Variant of Restless Legs Syndrome.

European journal of case reports in internal medicine
2025

Associations of Sleep Duration and Social Jetlag with Dry Eye Disease in Chinese School-Aged Children and Adolescents.

Nature and science of sleep
2025

Long-term outcomes and survival predictors in patients with ectopic ACTH syndrome: data from a retrospective cohort study.

Endocrine connections
2025

Preliminary investigation of obstructive sleep apnea and Alzheimer's disease in down syndrome.

Sleep advances : a journal of the Sleep Research Society
2026

Clinical Utility of Salivary Steroid Profiling for the Differential Diagnosis of Adrenal Diseases.

The Journal of clinical endocrinology and metabolism
2025

Effects of a two-night hospitalization program as a specific health guidance on obesity and cardiovascular disease risk factors.

Journal of general and family medicine
2025

Pathophysiology and pharmacological management for sleep problems in Parkinson's disease.

Journal of Parkinson's disease
2025

A Severe Form of Mpox Infection and the Current Epidemiological Status in Romania.

Microorganisms
2025

Gastrointestinal 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 Association
2025

Estrogen signaling is necessary for the sex difference in simulated jet lag in mice.

American journal of physiology. Endocrinology and metabolism
2025

Perceived prevalence, risk factors, and reported management of delirium in critically ill emergency patients: a survey of physicians in China.

Postgraduate medical journal
2025

The association between insomnia, chronotype, and positive airway pressure adherence in children and adolescents.

Sleep medicine
2025

Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.

Journal of personalized medicine
2025

Prevalence and associated factors of eating disorders among metabolic bariatric surgery patients in Egypt.

Journal of eating disorders
2025

Burnout syndrome and sleep quality in nurses.

Revista brasileira de medicina do trabalho : publicacao oficial da Associacao Nacional de Medicina do Trabalho-ANAMT
2025

Effect of lemborexant on sleep parameters and architecture in adult and elderly participants with mild-to-severe obstructive sleep apnea.

Sleep medicine
2025

Association between dim light melatonin onset predicted from gene expression profiles with sleep time and chronotype preference: A pilot study.

Chronobiology international
2025

Evaluating the Association Between Educational Status and Carpal Tunnel Syndrome Presentations and Severity.

Advances in orthopedics
2025

Beyond the Pleura: A Case Report of Type 1 Brugada Phenocopy in the Setting of Empyema.

Cureus
2026

Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report.

Ophthalmic genetics
2025

Promotion of Preventive Sleep Research from the Perspective of Health and Public Safety in Japan - Secondary Publication.

JMA journal
2025

A case of infective endocarditis with the manifestation of multi-organ embolisms: a case report.

Cardiovascular journal of Africa
2026

Daridorexant and Insomnia in Clinical Practice: A Nominal Group Technique Consensus Study among Italian Sleep and Insomnia Experts.

Current neuropharmacology
2025

Preoperative Eating Patterns and Their Effect on Post-operative Outcomes in Metabolic and Bariatric Surgery: A Cohort Study of 1550 Patients.

Obesity surgery
2025

Night-shift work and its association with metabolic syndrome.

Medicine
2025

[Impact of Androgen Deprivation Therapy on Lower Urinary Tract Function in Patients with Prostate Cancer].

Hinyokika kiyo. Acta urologica Japonica
2025

Independent and combined relationships between light at night, air pollutants, PM2.5 components and risk of cardiovascular-kidney-metabolic syndrome: a cohort study.

BMC public health

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Unveiling the 12-Hour Ultradian Rhythm: Biological Foundations, Mechanistic Insights, and Potential Applications.
    Cell biochemistry and function· 2026· PMID 41845938mais citado
  2. A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.
    International journal of molecular sciences· 2026· PMID 41828587mais citado
  3. Nocturnal Atrioventricular Block: Natural History and Clinical Implications.
    Journal of Korean medical science· 2026· PMID 41732046mais citado
  4. Sleep in tic disorders and Tourette syndrome.
    Handbook of clinical neurology· 2026· PMID 41633726mais citado
  5. Restless Legs Syndrome: A Review.
    JAMA· 2026· PMID 41563785mais citado
  6. Abduction-Release Sign in Heavy Eye Syndrome.
    J Neuroophthalmol· 2026· PMID 41995157recente
  7. Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
    Cureus· 2026· PMID 41994773recente
  8. A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
    Front Vet Sci· 2026· PMID 41994257recente
  9. Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
    Saudi J Ophthalmol· 2026· PMID 41994245recente
  10. Potential mechanisms of the glucocorticoid withdrawal syndrome.
    Eur J Endocrinol· 2026· PMID 41988948recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1390(Orphanet)
  2. MONDO:0015326(MONDO)
  3. GARD:3994(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Síndrome de cegueira noturna-anomalias esqueléticas-dismorfia
Compêndio · Raras BR

Síndrome de cegueira noturna-anomalias esqueléticas-dismorfia

ORPHA:1390 · MONDO:0015326
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2931114
Wikidata
Papers 10a
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