"Golden" é uma canção do girl group fictício de K-pop Huntrix, interpretada por Ejae, Audrey Nuna e Rei Ami, como parte do filme de animação KPop Demon Hunters (2025). Foi lançada em 4 de julho de 2025 pela Republic Records como o segundo single da trilha sonora do filme. A música foi escrita por Ejae em conjunto com Mark Sonnenblick, 24, Ido e Teddy Park, sendo produzida por estes últimos e Ian Eisendrath.
Introdução
O que você precisa saber de cara
Síndrome rara caracterizada por hipoglicemia persistente, hipotonia muscular e dismorfias faciais, associada a mutações no gene *HNF1A*. Afeta o desenvolvimento neurológico e o metabolismo da glicose.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de Ballard
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Sodium Correction Rates and Associated Outcomes Among Patients With Severe Hyponatremia : A Retrospective Cohort Study.
Slow correction of severe hyponatremia is recommended to prevent osmotic demyelination syndrome but is associated with higher mortality. To examine the association between sodium correction rates and death or delayed neurologic events. Retrospective cohort study. Twenty-one community hospitals of an integrated health system in northern California. Adults hospitalized with a serum sodium level of 120 mEq/L or lower between 2008 and 2023. Maximum 24-hour rate of serum sodium correction (slow [<8 mEq/L], medium [8 to 12 mEq/L], or fast [>12 mEq/L; reference]). The primary outcome was a composite of 90-day death or delayed neurologic events (new demyelination, paralysis, epilepsy, or altered consciousness between 3 and 90 days from admission). Standardized risk differences (RDs) were generated using targeted maximum likelihood estimation. Heterogeneity of effect was assessed across grades of predicted risk. 13 988 patients were hospitalized with severe hyponatremia during the study period (median age, 74 years; 63% female). Comorbidities included congestive heart failure (24%), liver disease (18%), alcohol dependence (14%), and metastatic cancer (10%). The primary outcome occurred in 3000 patients (21%); 90-day death occurred in 2554 (18%), and 90-day delayed neurologic events occurred in 587 (4%). Compared with slow 24-hour sodium correction, both medium (RD, -5.6 percentage points [95% CI, -7.1 to -4.0 percentage points]) and fast (RD, -9.0 percentage points [CI, -11.1 to -6.9 percentage points]) correction rates were associated with lower adjusted risk for the primary outcome. Risk differences increased with higher predicted risk, whereas risk ratios remained similar. Residual confounding; outcome ascertainment using diagnostic codes. Faster sodium correction is associated with lower risk for 90-day death or delayed neurologic events. Treatment guidelines should be reexamined. The Permanente Medical Group Rapid Analytics Unit Program.
A minimally invasive dried blood spot biomarker test for the detection of Alzheimer's disease pathology.
Blood biomarkers have emerged as accurate tools for detecting Alzheimer's disease (AD) pathology, offering a minimally invasive alternative to traditional diagnostic methods such as imaging and cerebrospinal fluid (CSF) analysis. Yet, the logistics surrounding venipuncture for blood collection, although considerably simpler than the acquisition of imaging and CSF, require precise processing and storage specific to AD biomarkers that are still guided by medical personnel. Consequently, limitations in their widescale use in research and broader clinical implementation exist. The DROP-AD project investigates the potential of dried plasma spot (DPS) and dried blood spot (DBS) analysis, derived from capillary blood, for detecting AD biomarkers, including phosphorylated tau at amino acid 217 (p-tau217), glial fibrillary acidic protein and neurofilament light. Here, 337 participants from 7 centers were included, with 304 participants providing paired capillary DPS or DBS and venous plasma samples. We observed strong correlations between DPS p-tau217 and venous plasma p-tau217 (rS = 0.74, P < 0.001). DPS p-tau217 progressively increased with increasing disease severity, and showed good accuracy in predicting CSF biomarker positivity (area under the curve = 0.864). Similarly, we demonstrated the successful detection of glial fibrillary acidic protein and neurofilament light with strong correlations between DBS and DPS, respectively, using paired venous plasma samples. Notably, the method was also effective in individuals with Down syndrome, a population at high genetic risk for AD but in whom standard blood sampling by venipuncture may be more complicated, revealing elevated biomarkers in those with dementia compared with asymptomatic individuals. The study also explored unsupervised blood collection, finding high concordance between supervised and self-collected samples. These findings underscore the potential of dried blood collection and capillary blood as a minimally invasive, scalable approach for AD biomarker testing in research settings. Yet, further refinement of collection and analytical protocols is needed to fully translate this approach to be viable and useful as a clinical tool.
Liraglutide in mild to moderate Alzheimer's disease: a phase 2b clinical trial.
Liraglutide, a glucagon-like peptide 1 (GLP-1) agonist and antidiabetic drug, has shown neuroprotective effects in animal models. In this study, we aimed to evaluate the safety and efficacy of liraglutide in mild to moderate Alzheimer's disease syndrome. 'Evaluating liraglutide in Alzheimer's disease' (ELAD) is a multicenter, randomized, double-blind, placebo-controlled phase 2b trial in 204 participants with mild to moderate Alzheimer's disease syndrome with no diabetes. Participants received daily injections of liraglutide or placebo for 52 weeks. They underwent fluorodeoxyglucose positron emission tomography, magnetic resonance imaging and detailed neuropsychometric evaluations. The primary outcome was a change in cerebral glucose metabolic rate. Secondary outcomes were safety and tolerability and cognitive changes. The primary outcome showed no significant differences in cerebral glucose metabolism (difference = -0.17; 95% confidence interval: -0.39 to 0.06; P = 0.14) between the two groups. The secondary outcome-score on the Alzheimer's Disease Assessment Scale-Executive domain (ADAS-Exec)-performed better in liraglutide-treated patients compared to placebo (0.15; 95% confidence interval: 0.03-0.28; unadjusted P = 0.01). No significant differences were observed in Alzheimer's Disease Cooperative Study-Activities of Daily Living (ADCS-ADL) (-0.58; 95% confidence interval: -3.13 to 1.97; unadjusted P = 0.65) or Clinical Dementia Rating-Sum of Boxes (CDR-SoB) (-0.06; 95% confidence interval: -0.57 to 0.44; unadjusted P = 0.81) scores. Liraglutide was generally safe and well tolerated in non-diabetic patients with Alzheimer's disease. ClinicalTrials.gov identifier: NCT01843075 .
Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.
Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. We conducted the first large-scale, multi-ancestral investigation of PD to examine the impact of genome-wide homozygosity on disease risk and age at onset (AAO). Using genotyping, imputed, and whole-genome sequencing data from 36,127 PD cases and 19,475 controls across nine ancestral populations from the Global Parkinson's Genetics Program, we aimed to identify novel regions of homozygosity contributing to PD heritability. We analyzed ROHs for total length (SROH), number (NROH), average length (AVROH), and genomic inbreeding coefficient (FROH). ROHs were intersected with known PD, pallido-pyramidal syndrome, and atypical parkinsonism gene regions and risk loci to assess pleomorphic or pleiotropic contributions. Homozygosity mapping identified ROH overlaps in families, consanguineous individuals, and early-onset PD (EOPD) cases. Significant differences in SROH, AVROH, NROH, and FROH were observed between case status across ancestries, persisting after excluding known PD-associated recessive genes. Our analysis revealed distinct patterns of ROH enrichment associated with AAO, suggesting recessive genetic modifiers of PD. Homozygosity mapping was used to prioritize 52 variants either segregating in families or present in individuals with consanguinity. In total, 1,559 ROHs in consanguineous individuals and EOPD overlapped known PD gene regions and risk loci. ROH regions contribute to PD heritability across ancestries, partly reflecting recessive genetic architecture. Larger and more diverse whole-genome sequencing studies are needed to identify rare recessive variants influencing PD risk. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
Otolaryngologic evaluation and management of nasal chondromesenchymal hamartoma.
Nasal chondromesenchymal hamartoma (NCMH) is a rare benign tumor of the nasal cavity and paranasal sinuses. Its clinical relevance has increased following the discovery of its association with DICER1 syndrome-a genetic condition predisposing individuals to multiple neoplasms. These two cases highlight important clinical extremes of this disease entity and offer practical evaluation and management recommendations for practicing otolaryngologists. A retrospective review was conducted from 1999 to 2025 at a single institution. The report includes two female teenagers presented at ages 13 and 17 years, respectively, diagnosed with NCMH-one with and one without DICER1 syndrome. Key outcomes included recurrence rates, anatomical spread, genetic testing results (including evaluation for DICER1 variants), and disease-status at follow-up. A thorough literature review on NCMH and DICER1 syndrome was conducted to provide the reader with management recommendations. CONCLUSIONS: Genetic testing for DICER1 variants should be standard in all newly diagnosed NCMH cases. Annual nasal endoscopic and imaging follow up is recommended in all individuals with a constitutional or mosaic pathogenic DICER1 variant. There is no published guidance for recurrent NCMH at the olfactory groove/cribriform plate region. Conservative local excisions should be pursued for tumor recurrences.
Publicações recentes
The UK Standing Dental Advisory Committee (1948-2010) with special reference to its Expert Working Party on Orthodontics, 1992.
Emergency Department Visit-Severity Algorithm for Immediate Care Clinic Visits.
Optimization of proton exchange membrane fuel cell design parameters using Tianji's horse racing optimization.
Efficient estimation of proton exchange membrane fuel cells parameters using a hybrid swarm intelligent algorithm.
Role of foot length in predicting the gestational age of a neonate.
📚 EuropePMCmostrando 114
Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.
Movement disorders : official journal of the Movement Disorder SocietySodium Correction Rates and Associated Outcomes Among Patients With Severe Hyponatremia : A Retrospective Cohort Study.
Annals of internal medicineA minimally invasive dried blood spot biomarker test for the detection of Alzheimer's disease pathology.
Nature medicineOtolaryngologic evaluation and management of nasal chondromesenchymal hamartoma.
International journal of pediatric otorhinolaryngologyLiraglutide in mild to moderate Alzheimer's disease: a phase 2b clinical trial.
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BMJ case reportsValidation of a 0-/2-Hour High-Sensitivity Cardiac Troponin Algorithm for Suspected Acute Coronary Syndrome in the Emergency Department.
Journal of the American Heart AssociationPediatric Outcomes for Severe and Very Severe Obstructive Sleep Apnea After Total vs. Intracapsular Tonsillectomy.
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Stem cells (Dayton, Ohio)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de Ballard
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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.
- Sodium Correction Rates and Associated Outcomes Among Patients With Severe Hyponatremia : A Retrospective Cohort Study.
- A minimally invasive dried blood spot biomarker test for the detection of Alzheimer's disease pathology.
- Liraglutide in mild to moderate Alzheimer's disease: a phase 2b clinical trial.
- Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41808632mais citado
- Otolaryngologic evaluation and management of nasal chondromesenchymal hamartoma.
- The UK Standing Dental Advisory Committee (1948-2010) with special reference to its Expert Working Party on Orthodontics, 1992.
- Emergency Department Visit-Severity Algorithm for Immediate Care Clinic Visits.
- Optimization of proton exchange membrane fuel cell design parameters using Tianji's horse racing optimization.
- Efficient estimation of proton exchange membrane fuel cells parameters using a hybrid swarm intelligent algorithm.
- Role of foot length in predicting the gestational age of a neonate.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93395(Orphanet)
- MONDO:0007213(MONDO)
- Busca completa no PubMed(PubMed)
- Q32145331(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
