Raras
Buscar doenças, sintomas, genes...
Síndrome de Ballard
ORPHA:93395OMIM 112440DOENÇA RARA

"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.

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Introdução

O que você precisa saber de cara

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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.

Publicações científicas
288 artigos
Último publicado: 2026 Feb
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Total histórico288PubMed
Últimos 10 anos115publicações
Pico202419 papers
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Publicações por ano (últimos 10 anos)

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Sodium Correction Rates and Associated Outcomes Among Patients With Severe Hyponatremia : A Retrospective Cohort Study.

Annals of internal medicine2026 Mar

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.

#2

A minimally invasive dried blood spot biomarker test for the detection of Alzheimer's disease pathology.

Nature medicine2026 Feb

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.

#3

Liraglutide in mild to moderate Alzheimer's disease: a phase 2b clinical trial.

Nature medicine2026 Jan

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 .

#4

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Movement disorders : official journal of the Movement Disorder Society2026 Mar 11

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.

#5

Otolaryngologic evaluation and management of nasal chondromesenchymal hamartoma.

International journal of pediatric otorhinolaryngology2026 Jan

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

Ver todas no PubMed

📚 EuropePMCmostrando 114

2026

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

Sodium Correction Rates and Associated Outcomes Among Patients With Severe Hyponatremia : A Retrospective Cohort Study.

Annals of internal medicine
2026

A minimally invasive dried blood spot biomarker test for the detection of Alzheimer's disease pathology.

Nature medicine
2026

Otolaryngologic evaluation and management of nasal chondromesenchymal hamartoma.

International journal of pediatric otorhinolaryngology
2026

Liraglutide in mild to moderate Alzheimer's disease: a phase 2b clinical trial.

Nature medicine
2025

Effect of thoracic squeeze technique and Yakson technique in preterm infants having respiratory distress syndrome along with spontaneous intestinal perforation.

BMJ case reports
2025

Validation of a 0-/2-Hour High-Sensitivity Cardiac Troponin Algorithm for Suspected Acute Coronary Syndrome in the Emergency Department.

Journal of the American Heart Association
2025

Pediatric Outcomes for Severe and Very Severe Obstructive Sleep Apnea After Total vs. Intracapsular Tonsillectomy.

Laryngoscope investigative otolaryngology
2025

Predictors of health care utilization in patients with post-acute sequelae of COVID-19 (PASC).

PloS one
2025

Preclinical pharmacology of alogabat: a novel GABAA-α5 positive allosteric modulator targeting neurodevelopmental disorders with impaired GABAA signaling.

Frontiers in pharmacology
2025

High Prevalence of Abnormal Baseline Lung Function in Pediatric and Young Adult Hematopoietic Stem Cell Transplant Recipients: A Report from the TRANSPIRE Study.

Pediatric blood &amp; cancer
2025

Comprehensive in vitro assessment of drug-drug interactions of the major human metabolite of soticlestat.

Xenobiotica; the fate of foreign compounds in biological systems
2025

Clinical trials for neuropsychiatric syndromes in major and mild neurocognitive disorders: A CONSORT-based approach.

International psychogeriatrics
2025

Implementation of a High-Sensitivity Cardiac Troponin Assay and Diagnostic Protocol for Suspected Acute Coronary Syndrome.

The American journal of cardiology
2025

Post-diagnostic care pathways in dementia: Experiences and needs of family carers and considerations for interventions.

Dementia (London, England)
2025

Charge matters: how flanking substrate charge modulates O-glycan Core elongation.

Glycobiology
2024

A framework for translating tauopathy therapeutics: Drug discovery to clinical trials.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2024

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

EMBO molecular medicine
2024

Cognitive and psychiatric symptom trajectories 2-3 years after hospital admission for COVID-19: a longitudinal, prospective cohort study in the UK.

The lancet. Psychiatry
2024

Continued improvement in the development of the SARS-CoV-2 whole genome sequencing proficiency testing program.

Pathology
2024

A rapid host-protein test for differentiating bacterial from viral infection: Apollo diagnostic accuracy study.

Journal of the American College of Emergency Physicians open
2024

L-plastin associated syndrome of immune deficiency and hematologic cytopenia.

The Journal of allergy and clinical immunology
2024

Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease.

Nature immunology
2024

Pediatric Postoperative Outcomes for Severe and Very Severe Obstructive Sleep Apnea Syndrome.

The Laryngoscope
2024

Progress in Pharmacologic Management of Neuropsychiatric Syndromes in Neurodegenerative Disorders: A Review.

JAMA neurology
2024

DOCK2 Deficiency Causes Defects in Antiviral T-Cell Responses and Impaired Control of Herpes Simplex Virus Infection.

The Journal of infectious diseases
2024

Zeb2 drives the formation of CD11c+ atypical B cells to sustain germinal centers that control persistent infection.

Science immunology
2023

Tetrahydrocannabinol and Cannabidiol in Tourette Syndrome.

NEJM evidence
2024

Immunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial.

The Lancet. Child &amp; adolescent health
2024

CTAD Task Force Paper: Neuropsychiatric Symptoms in AD: Clinical Trials Targeting Mild Behavioral Impairment: A Report from the International CTAD Task Force.

The journal of prevention of Alzheimer's disease
2024

Post-acute COVID-19 neuropsychiatric symptoms are not associated with ongoing nervous system injury.

Brain communications
2024

Prevalence, Characteristics, and Reasons for Kratom Use among Psychiatrically Ill Inpatients Who Use Substances.

Journal of dual diagnosis
2024

Bendamustine lymphodepletion before axicabtagene ciloleucel is safe and associates with reduced inflammatory cytokines.

Blood advances
2024

Asperger's syndrome - about time to rename it?

Pediatric research
2024

Impact of Hematopoietic Cell Transplantation on Cardiovascular Risk Factors and Insulin Sensitivity.

Transplantation and cellular therapy
2023

Long COVID research: an update from the PHOSP-COVID Scientific Summit.

The Lancet. Respiratory medicine
2023

Visualizing the malperfusion effect of coronary occlusion as a sequela of limited type A aortic dissection.

Emergency radiology
2024

Behavioral Treatment for Speech and Language in Primary Progressive Aphasia and Primary Progressive Apraxia of Speech: A Systematic Review.

Neuropsychology review
2023

Multimodal Pain Management for Parsonage-Turner Syndrome in the Acute Rehabilitation Setting: A Case Report.

Cureus
2023

Bladder pain syndrome and sexual function: a systematic review and meta-analysis.

International urogynecology journal
2023

Molecular epidemiology, clinical features and significance of Shiga toxin detection from routine testing of gastroenteritis specimens.

Pathology
2023

Impact of in utero drug exposure on neonates requiring ECMO: A retrospective cohort study.

Frontiers in pediatrics
2023

An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript.

Science translational medicine
2023

An operation on placental support in a fetus with a nasopharyngeal teratoma.

Anaesthesia reports
2023

Validating administratively derived frailty scores for use in Veterans Health Administration emergency departments.

Academic emergency medicine : official journal of the Society for Academic Emergency Medicine
2023

A data-driven examination of apathy and depressive symptoms in dementia with independent replication.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2022

The COVID-19 Community Research Partnership: a multistate surveillance platform for characterizing the epidemiology of the SARS-CoV-2 pandemic.

Biology methods &amp; protocols
2022

Testing a deliberative democracy method with citizens of African ancestry to weigh pros and cons of targeted screening for hereditary breast and ovarian cancer risk.

Frontiers in public health
2023

Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2022

Educational Review: Error traps in anesthesia for pediatric liver transplantation.

Paediatric anaesthesia
2022

Feasibility of a refurbished shipping container as a transportable laboratory for rapid SARS-CoV-2 diagnostics.

Access microbiology
2022

Proficiency testing for SARS-CoV-2 whole genome sequencing.

Pathology
2022

Bendamustine is safe and effective for lymphodepletion before tisagenlecleucel in patients with refractory or relapsed large B-cell lymphomas.

Annals of oncology : official journal of the European Society for Medical Oncology
2022

Gender/Sex Differences in the Association of Mild Behavioral Impairment with Cognitive Aging.

Journal of Alzheimer's disease : JAD
2022

Outcomes of Tisagenlecleucel in Lymphoma Patients With Predominant Management in an Ambulatory Setting.

Clinical lymphoma, myeloma &amp; leukemia
2022

Clinical characteristics with inflammation profiling of long COVID and association with 1-year recovery following hospitalisation in the UK: a prospective observational study.

The Lancet. Respiratory medicine
2022

Multiple Systemic Arterial Aneurysms in Kawasaki Disease.

Radiographics : a review publication of the Radiological Society of North America, Inc
2022

A retrospective cohort study of pediatric patients undergoing staged laparotomy with interstage extubation.

Paediatric anaesthesia
2021

COVID-19: Integrating genomic and epidemiological data to inform public health interventions and policy in Tasmania, Australia.

Western Pacific surveillance and response journal : WPSAR
2022

Impact of intravesical onabotulinumtoxinA (Botox) on sexual function in patients with overactive bladder syndrome: a systematic review and meta-analysis.

International urogynecology journal
2021

Graded Coronary Risk Stratification for Emergency Department Patients With Chest Pain: A Controlled Cohort Study.

Journal of the American Heart Association
2021

Recent Progress in Lyme Disease and Remaining Challenges.

Frontiers in medicine
2021

Clinical characteristics of COVID-19 patients evaluated in the emergency department: A retrospective cohort study of 801 cases.

Journal of the American College of Emergency Physicians open
2021

Multicenter analysis of geriatric fitness and real-world outcomes in older patients with classical Hodgkin lymphoma.

Blood advances
2022

Survey of Adherence with COVID-19 Prevention Behaviors During the 2020 Thanksgiving and Winter Holidays Among Members of the COVID-19 Community Research Partnership.

Journal of community health
2021

Adding saliva testing to oropharyngeal and deep nasal swab testing increases PCR detection of SARS-CoV-2 in primary care and children.

The Medical journal of Australia
2021

Feasibility and acceptability of a home-based resistance training intervention in adolescent and young adult hematopoietic cell transplant survivors.

Pediatric blood &amp; cancer
2022

Point-of-care testing for sexually transmitted infections in low-resource settings.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
2021

Nav1.7 target modulation and efficacy can be measured in nonhuman primate assays.

Science translational medicine
2021

Basmisanil, a highly selective GABAA-α5 negative allosteric modulator: preclinical pharmacology and demonstration of functional target engagement in man.

Scientific reports
2021

Prospective Validation and Comparative Analysis of Coronary Risk Stratification Strategies Among Emergency Department Patients With Chest Pain.

Journal of the American Heart Association
2021

Genetic risk for Alzheimer's disease, cognition, and mild behavioral impairment in healthy older adults.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2021

Experiences of adolescents living with Silver-Russell syndrome.

Archives of disease in childhood
2021

Detection of SARS-CoV-2 in saliva: implications for specimen transport and storage.

Journal of medical microbiology
2021

Mild cognitive impairment: the Manchester consensus.

Age and ageing
2020

Sample pooling is a viable strategy for SARS-CoV-2 detection in low-prevalence settings.

Pathology
2020

Agitation and impulsivity in mid and late life as possible risk markers for incident dementia.

Alzheimer's &amp; dementia (New York, N. Y.)
2020

Transcription-based drug repurposing for COVID-19.

Virus research
2020

Assessing 3 Outbreak Detection Algorithms in an Electronic Syndromic Surveillance System in a Resource-Limited Setting.

Emerging infectious diseases
2020

Psychiatric and neuropsychiatric syndromes and COVID-19.

The lancet. Psychiatry
2020

60-day major adverse cardiac events in emergency department patients with non-low modified HEART scores.

The American journal of emergency medicine
2020

Down syndrome: Distribution of brain amyloid in mild cognitive impairment.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2021

Antipsychotic use in dementia: the relationship between neuropsychiatric symptom profiles and adverse outcomes.

European journal of epidemiology
2020

The frequency of pulmonary hypertension in newborn with intrauterine growth restriction.

Scientific reports
2020

Contact lens-based lysozyme detection in tear using a mobile sensor.

Lab on a chip
2020

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.

Journal of medical genetics
2019

Evaluation of nationwide referral pathways, investigation and treatment of suspected cauda equina syndrome in the United Kingdom.

British journal of neurosurgery
2020

Small vessel disease pathological changes in neurodegenerative and vascular dementias concomitant with autonomic dysfunction.

Brain pathology (Zurich, Switzerland)
2019

Airway Obstruction during Sleep due to Diaphragm Pacing Precludes Decannulation in Young Children with CCHS.

Respiration; international review of thoracic diseases
2019

Leverage points to improve smoking cessation treatment in a large tertiary care hospital: a systems-based mixed methods study.

BMJ open
2019

Mild Behavioral Impairment as a Marker of Cognitive Decline in Cognitively Normal Older Adults.

The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry
2018

Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation.

Paediatric anaesthesia
2018

Comparative Metabolomics Elucidates Postprandial Metabolic Modifications in Plasma of Obese Individuals with Metabolic Syndrome.

Journal of proteome research
2019

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood.

Archives of disease in childhood
2018

A rapidly growing human papillomavirus-positive oral tongue squamous cell carcinoma in a 21-year old female: A case report.

Oncology letters
2018

Acute Responses to Diuretic Therapy in Extremely Low Gestational Age Newborns: Results from the Prematurity and Respiratory Outcomes Program Cohort Study.

The Journal of pediatrics
2018

Immune response against the coiled coil domain of Sjögren's syndrome associated autoantigen Ro52 induces salivary gland dysfunction.

Clinical and experimental rheumatology
2018

Performance of Coronary Risk Scores Among Patients With Chest Pain in the Emergency Department.

Journal of the American College of Cardiology
2018

Taking Assent to New Heights: A Case Report on Do-Not-Resuscitate Status in Pediatric Palliative Care Procedures.

A&amp;A practice
2017

Targeted High Performance Liquid Chromatography Tandem Mass Spectrometry-based Metabolomics differentiates metabolic syndrome from obesity.

Experimental biology and medicine (Maywood, N.J.)
2017

Inducible Caspase-9 Selectively Modulates the Toxicities of CD19-Specific Chimeric Antigen Receptor-Modified T Cells.

Molecular therapy : the journal of the American Society of Gene Therapy
2017

The Randomized, Controlled Trial of Late Surfactant: Effects on Respiratory Outcomes at 1-Year Corrected Age.

The Journal of pediatrics
2017

Platypnea-Orthodeoxia Syndrome: A Case of Chronic Paroxysmal Hypoxemia.

Journal of general internal medicine
2017

Characteristics of Extremely Low Gestational Age Newborns Undergoing Tracheotomy: A Secondary Analysis of the Trial of Late Surfactant Randomized Clinical Trial.

JAMA otolaryngology-- head &amp; neck surgery
2016

Update on Vascular Dementia.

Journal of geriatric psychiatry and neurology
2016

Dementia in Down's syndrome.

The Lancet. Neurology
2016

Management of Snapping Scapula Syndrome.

Orthopedics
2016

Lady Windermere Syndrome.

The American journal of the medical sciences
2016

Pregnancy in a Patient With Primary Membranous Nephropathy and Circulating Anti-PLA2R Antibodies: A Case Report.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2015

Emergency Physician Attitudes, Preferences, and Risk Tolerance for Stroke as a Potential Cause of Dizziness Symptoms.

The western journal of emergency medicine
2015

18F-FDG PET Improves Diagnosis in Patients with Focal-Onset Dementias.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine
2015

Is the logopenic-variant of primary progressive aphasia a unitary disorder?

Cortex; a journal devoted to the study of the nervous system and behavior
2015

Myostatin Neutralization Results in Preservation of Muscle Mass and Strength in Preclinical Models of Tumor-Induced Muscle Wasting.

Molecular cancer therapeutics
2015

Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.

Stem cells (Dayton, Ohio)

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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. Sodium Correction Rates and Associated Outcomes Among Patients With Severe Hyponatremia : A Retrospective Cohort Study.
    Annals of internal medicine· 2026· PMID 41587479mais citado
  2. A minimally invasive dried blood spot biomarker test for the detection of Alzheimer's disease pathology.
    Nature medicine· 2026· PMID 41491101mais citado
  3. Liraglutide in mild to moderate Alzheimer's disease: a phase 2b clinical trial.
    Nature medicine· 2026· PMID 41326666mais citado
  4. 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
  5. Otolaryngologic evaluation and management of nasal chondromesenchymal hamartoma.
    International journal of pediatric otorhinolaryngology· 2026· PMID 41338130mais citado
  6. The UK Standing Dental Advisory Committee (1948-2010) with special reference to its Expert Working Party on Orthodontics, 1992.
    Br Dent J· 2026· PMID 41688709recente
  7. Emergency Department Visit-Severity Algorithm for Immediate Care Clinic Visits.
    West J Emerg Med· 2025· PMID 41554157recente
  8. Optimization of proton exchange membrane fuel cell design parameters using Tianji's horse racing optimization.
    Sci Rep· 2026· PMID 41519869recente
  9. Efficient estimation of proton exchange membrane fuel cells parameters using a hybrid swarm intelligent algorithm.
    Sci Rep· 2026· PMID 41507224recente
  10. Role of foot length in predicting the gestational age of a neonate.
    Med J Malaysia· 2025· PMID 41456145recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:93395(Orphanet)
  2. MONDO:0007213(MONDO)
  3. Busca completa no PubMed(PubMed)
  4. 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.

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Síndrome de Ballard

ORPHA:93395 · MONDO:0007213
OMIM
112440
MedGen
UMLS
C1862163
Wikidata
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