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Publicações mais relevantes
Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
A experiência da Coreia do Sul com a COVID-19 pediátrica demonstrou que, embora muitas crianças tenham sido infectadas, especialmente durante a onda Ômicron, os casos graves foram raros. Para pacientes e familiares, o sistema de saúde adaptou-se rapidamente, permitindo o isolamento domiciliar para casos leves e o acompanhamento de cuidadores durante a hospitalização. Para médicos, foram implementadas vigilância específica para a síndrome inflamatória multissistêmica (MIS-C) e estratégias de vacinação pediátrica, com foco em protocolos amigáveis às crianças e comunicação clara sobre as vacinas.
🇧🇷 traduzidoLessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
A pandemia de COVID-19 resultou em um uso excessivo e frequentemente desnecessário de antibióticos, mesmo com baixas taxas de coinfecção bacteriana, o que agravou significativamente a ameaça da resistência antimicrobiana (RAM). Para pacientes e médicos, essa prática, somada à desorganização de programas de controle de antimicrobianos (antimicrobial stewardship), favoreceu o surgimento de infecções resistentes, tornando o tratamento mais difícil. O artigo enfatiza a necessidade crucial de otimizar a gestão de antimicrobianos, utilizando intervenções direcionadas e a vacinação contra a COVID-19, para reduzir o consumo de antibióticos e combater a RAM futura.
🇧🇷 traduzidoSequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
Este estudo aprofundou a compreensão da base genética da Síndrome de Alport, uma doença renal hereditária, ao identificar um grande número de variantes genéticas, incluindo muitas novas, em pacientes. Para médicos e pacientes, é crucial que o uso de sequenciamento genético avançado tenha revelado tipos de mutações (como não-codificantes e estruturais complexas) que testes padrão frequentemente perdem, permitindo um diagnóstico preciso para casos anteriormente não resolvidos. Isso aprimora significativamente o diagnóstico genético e o aconselhamento para a Síndrome de Alport e serve de modelo para outras doenças hereditárias.
🇧🇷 traduzidoAntibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
Uma pesquisa de acompanhamento com crianças de 9 a 12 anos revelou que o uso de antibióticos na primeira semana de vida não está associado a um risco maior de desenvolver distúrbios gastrointestinais funcionais (DGFs) na infância, oferecendo tranquilidade para pais e médicos. Além disso, não houve ligação significativa entre ter cólicas infantis e DGFs mais tarde. Contudo, o estudo observou que crianças com alergias alimentares atuais têm uma probabilidade significativamente maior de apresentar distúrbios funcionais de dor abdominal.
🇧🇷 traduzidoTyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
A Deficiência de Tirosina Hidroxilase (DTH) é uma doença genética rara que causa distonia e parkinsonismo infantil devido à baixa produção de dopamina, com resposta variável à L-Dopa. Este estudo crucial revela que a redução da enzima tirosina hidroxilase no cérebro não se deve à morte de neurônios, mas sim a um defeito no transporte da proteína dentro deles. Isso leva a disfunções em circuitos cerebrais importantes, mas o cérebro demonstra plasticidade e capacidade de compensação, uma informação vital para entender a doença, seu prognóstico e guiar futuras terapias, dado que não há degeneração neuronal.
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Genome researchA WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.
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The Turkish journal of pediatricsExploring the link between adenovirus infection and Guillain-Barré syndrome in children: a case-based analysis.
The Turkish journal of pediatricsNeuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.
The Turkish journal of pediatricsPrognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.
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Molecular genetics and metabolismBertolotti joint-related cyst: illustrative case.
Journal of neurosurgery. Case lessonsImprovement in spinopelvic parameters after laminectomy and complete factectomies above prior fusion facilitated by posterior arthroplasty: illustrative case.
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European heart journal. Cardiovascular ImagingTau pathology in epilepsy: emerging mechanisms and translational opportunities.
Brain : a journal of neurologyMalignant peripheral nerve sheath tumors arising in SMARCB1-associated schwannomatosis: illustrative cases.
Journal of neurosurgery. Case lessonsTargeted repair of a refractory ventral cerebrospinal fluid leak identified by dynamic computed tomography myelography: illustrative case.
Journal of neurosurgery. Case lessonsAcute declines in kidney function with thiazide plus loop diuretics vs loop diuretics alone in acute decompensated heart failure.
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American journal of nephrologyGrowth Guidance Surgery: Factors Associated With Complications.
SpineRespiratory syncytial virus - from discovery to vaccines.
Journal of medical microbiologyCost-utility and budget impact analyses of significant fibrosis detection in individuals with metabolic syndrome or obesity in Thailand.
PloS oneTime to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
PloS oneThe effect of dumping syndrome severity on health-related quality of life among bariatric surgery patients in Saudi Arabia.
PloS oneA Lip Fixation Device Facilitates Labial Salivary Gland Biopsy for Sjögren's Disease.
Journal of visualized experiments : JoVELong COVID in children and adolescents: Incidence and clinical characteristics in Buenos Aires, 2021-2023.
Archivos argentinos de pediatriaAdjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.
European journal of gastroenterology & hepatologyMucus Fishing Syndrome: Case Series and a Narrative Review of Literature.
Ophthalmology and therapyGuillain-Barré syndrome mimicking inflammatory myopathy with hyperCKemia and muscle MRI findings: a case report.
Acta neurologica BelgicaPatients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study.
Journal of community geneticsLinggui Yangyuan Paste for Male Infertility with Shen (Kidney) Deficiency and Blood Stasis Syndrome: A Multicenter, Double-Blind, Double-Dummy, Randomized Controlled Trial.
Chinese journal of integrative medicineUrsolic acid, a pentacyclic triterpene from Ochrosia elliptica Labill leaves and its role in the management of polycystic ovary syndrome (PCOS).
InflammopharmacologyRelationship between culprit lesion high-risk plaque features and adverse cardiovascular outcome at two years follow-up in patients with acute coronary syndrome. Insights from the OPTICO-ACS study.
The international journal of cardiovascular imagingMHC class II and PLA2R investigating the epitope presentation deficits driving antibody production in membranous nephropathy.
International urology and nephrologyPerfluorohexyloctane eye drops in treating dry eye disease associated with meibomian gland dysfunction: a post hoc analysis by baseline severity.
International ophthalmologyGenetic testing for hereditary breast and ovarian cancer in the Murcian population using a comprehensive NGS panel.
Familial cancerMyeloid dermatosis with features of sweet syndrome and leukemia cutis: a case report.
Annals of hematologyGATA2 Deficiency Syndrome: A Case Series and Literature Review.
Journal of clinical immunologyShort-term lesion-level impact of extensive LDL-C reduction with statins and PCSK9 inhibitors: a pre-specified subgroup analysis of the randomized FITTER trial.
Clinical research in cardiology : official journal of the German Cardiac SocietySilent complexity: a rare combination of polysplenia, cleft palate, retroaortic renal vein, and dorsal pancreatic agenesis.
Pediatric radiologySurviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.
Intensive care medicineA Retrospective Analysis of Dengue-associated Hemophagocytic Lymphohistiocytosis in a Dengue-endemic Country.
The Pediatric infectious disease journalImpact of Prematurity on Metabolic Maturation.
Journal of proteome researchHipE Study-Hip Embolization for Pain Control in Hip Osteoarthritis and Greater Trochanteric Pain Syndrome: 12 Months Follow-Up.
Cardiovascular and interventional radiologyAn unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
European journal of ophthalmologyFrom patients to partners: Evaluating a co-designed website for congenital hypogonadotropic hypogonadism.
Endocrine connectionsDopamine agonist withdrawal syndrome - what do we really know?
Neurologia i neurochirurgia polskaFirst Case of Laparoscopic Cholecystectomy in a Patient with Situs Inversus Totalis in Ethiopia.
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Journal of clinical psychopharmacologyComparing people with persisting post-concussion symptoms from an emergency department-based research sample with patients in a clinical rehabilitation sample: an explorative, retrospective analysis.
Journal of rehabilitation medicineMultifunctional ACE2-nanobody fusion design for pan-specific neutralization and cardiovascular protection in SARS coronavirus infection.
Antimicrobial agents and chemotherapyPediatric Myasthenia Gravis.
International ophthalmology clinicsUpdate on Congenital Cranial Dysinnervation Disorders (CCDDs).
International ophthalmology clinicsCongenital Optic Nerve Anomalies and Associated Systemic Conditions.
International ophthalmology clinicsTailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.
Acta chirurgica BelgicaMultimodal Functional Imaging in Tumor-induced Osteomalacia: 68Ga-DOTATATE, 18F-FDG, and 68Ga-FAPI PET/CT Findings.
Molecular imaging and radionuclide therapyBEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.
Current opinion in hematologyOvarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.
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Cephalalgia : an international journal of headacheDissociation Between Metabolic Improvements and Mitochondrial Transcriptional Changes Following Exercise Training in Women with Polycystic Ovary Syndrome.
American journal of physiology. Endocrinology and metabolismFirst Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym.
American journal of medical genetics. Part AExtracellular vesicle miR-93-5p cargo regulates glomerular endothelial cell damage in Alport syndrome.
JCI insightPsychosocial issues of neonatal screening in the context of its major expansion: a scoping review.
Frontiers in psychologyExploratory observational study with Two-year outcomes of early in-hospital evolocumab in acute coronary syndrome patients undergoing coronary artery bypass grafting.
Frontiers in cardiovascular medicineA cohort study in Southern Xinjiang, China, 2018-2023 on the association of metabolic syndrome components and their interactions with cardiovascular disease risk.
Frontiers in cardiovascular medicineExpert consensus on acupuncture for diabetic foot.
American journal of clinical and experimental immunologyTraining and Integration of Eat, Sleep, Console Model for Infants and Families at an Urban Academic Health Center.
MedEdPORTAL : the journal of teaching and learning resourcesUpadacitinib for the Treatment of Systemic Immune Co-Morbidity in One Case: Alopecia Areata, Vitiligo, Ankylosing Spondylitis, and Allergic Rhinitis-Asthma - Multifaceted Control.
Clinical, cosmetic and investigational dermatologyIncomplete Ascher's Syndrome Misdiagnosed as Eczema: A Case Report.
Clinical, cosmetic and investigational dermatologyUnilateral orbital surgical emphysema following laparoscopic hiatal hernia repair and Nissen fundoplication: a case report.
Frontiers in surgeryUnexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.
Frontiers in surgeryCellular signatures of immune dysregulation in inborn errors of immunity: development of a quantitative immune balance score.
Frontiers in immunologyGenetic determinants of arterial thrombosis in primary antiphospholipid syndrome: a systematic review.
Frontiers in immunologyThe transcription factor ZNF683 marks an exhaustion-like GZMB+CD8+ T cell in sepsis.
Frontiers in immunologyCase Report: Dual response to efgartigimod in myasthenia gravis and comorbid autoimmune disorders: a case series.
Frontiers in immunologyLactylation modification - a bridge between sepsis and macrophage metabolic reprogramming.
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Frontiers in immunologyReal-world safety profile of T-cell engagers: evidence from multi-database analysis with CAR-T comparisons.
Frontiers in immunologySpatial transcriptomic profiling identifies lacrimal-gland-epithelial cell-driven mechanisms underlying autoimmunity in Sjögren's disease.
Frontiers in immunologyRNA sequencing-derived gene co-expression and drug-gene interaction analysis reveal STAT1 as a potential therapeutic target in thrombotic antiphospholipid syndrome.
Frontiers in immunologyCell-type specificity of Tim-3 in respiratory diseases: from mechanisms to clinical translation.
Frontiers in immunologyPreoperative Considerations for Uterine Fibroid Removal in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome and Klippel-Feil Syndrome: A Case Report.
CureusDevelopment of Carbon Dioxide Embolism During Partial Amniotic Carbon Dioxide Insufflation for Fetoscopic Laser Photocoagulation: A Case Report.
CureusPertussis-SARS-CoV-2 Co-infection in Infants at Mohammed VI University Hospital, Marrakech, Morocco.
CureusWhen Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.
CureusChemotherapy and the Skin: Understanding Dermatologic Side Effects.
CureusOgilvie Syndrome: A Therapeutic Challenge.
CureusAtypical Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes (POEMS) Syndrome.
CureusHypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.
CureusVaricella-Zoster Virus Infection in an Immunocompromised Patient With Seizure-Like Activity and Septic Shock: A Case Report.
CureusSurgical Risk Following Carpal Tunnel Release in Non-cirrhotic Non-alcoholic Fatty Liver Disease Versus Non-alcoholic Cirrhosis: A Propensity-Matched Analysis.
CureusExtracapillary Proliferation Superimposed on Primary Membranous Glomerulonephritis: A Case Report.
CureusLipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
CureusSpatial and temporal dispersion of ventricular repolarization in pediatric patients with congenital long QT syndrome.
HeartRhythm case reportsUnique repolarization response after spontaneous nonsustained ventricular tachycardia.
HeartRhythm case reportsClinical Findings, Antibody Panel and Pathology of Patients with Inflammatory Myopathies in Isfahan Province, Iran.
Advanced biomedical researchSustained Lung Inflation in Preterm Infants with Signs of Respiratory Distress: A Randomized Controlled Trial.
Advanced biomedical researchEfficacy of Shenqi Eleven-Flavor Granules combined with electrothermal warm acupuncture in patients with "firm but not lasting" erectile dysfunction characterized by spleen-kidney deficiency: a single-center retrospective analysis.
American journal of translational researchIndependent predictors of long-term pulmonary function recovery in patients with acute respiratory distress syndrome: a meta-analysis.
American journal of translational researchTrousseau's syndrome with cerebral infarction as the first manifestation.
American journal of translational researchA gradient boosting machine model for predicting prognosis in patients with acute respiratory distress syndrome.
American journal of translational researchImpact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.
Annals of gastroenterologyConsensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis.
Annals of gastroenterologyBDNF genetic variants modulate the impact of childhood trauma on symptom dimensions in first-episode schizophrenia.
Frontiers in psychiatryLifestyle and Complementary Approaches to Polycystic Ovary Syndrome During Perimenopause and Menopause A Scoping Review.
American journal of lifestyle medicineSynergistic effects of combined breathing training and aerobic exercise on cardiopulmonary function in chronic heart failure: a systematic review and meta-analysis.
PeerJRestless legs syndrome and sleep quality in children with migraine and tension-type headache.
PeerJIliofemoral Venous Occlusion Due to Previous Intravenous Drug Abuse Crossed by Sharp Recanalization Technique With Endovascular Stenting: A Case Report.
Journal of the Society for Cardiovascular Angiography & InterventionsLipid Goal Achievement With Statins Among Statin-Naïve Indian Patients Undergoing Percutaneous Coronary Intervention.
Journal of the Society for Cardiovascular Angiography & InterventionsLate reconstruction of missed compartment syndrome after tibial plateau fixation surgery: A case report with 6 years of follow-up.
Orthopedic reviewsBouveret's syndrome complicated by iatrogenic esophageal perforation after endoscopic gallstone retrieval: a case report.
Journal of surgical case reportsDyskerin dysfunction in cancer development: from telomere dysregulation to immune deficiency.
American journal of cancer researchOvarian Sertoli-Leydig cell tumors with somatic DICER1 mutations: a clinicopathologic study of 15 cases.
American journal of cancer researchBrugada Syndrome Unmasked by Fever: A Rare Cause of ST-Segment Elevation.
Journal of acute medicinePneumomediastinum and Subcutaneous Emphysema as Initial Presentations of Pneumocystis Jirovecii Pneumonia in a Newly Diagnosed HIV-Infected Patient: A Case Report.
Journal of acute medicineClinical Characteristics and Factors Associated With Critical Illness and Mortality in Patients Hospitalized With COVID-19: A Retrospective Cohort Study in Taiwan.
Journal of acute medicineDiagnosis of Polycystic Ovary Syndrome With Predictive Modeling of Select Clinical Features.
O&G openPhysiologic Markers of Mortality in Acute Valve Syndrome: An Ischemic Physiology Score Stratifies Patient Risk.
Structural heart : the journal of the Heart TeamCandidate Genes for Non-Syndromic Pediatric Cataracts.
Clinical ophthalmology (Auckland, N.Z.)Lower fat-free mass is independently linked to restless legs syndrome in men: a cross-sectional PSG-BIA study.
Frontiers in neurologyGallbladder mucinous cystic neoplasm: Diagnostic challenges and multimodality imaging correlation.
Radiology case reportsArterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.
Radiology case reportsObstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report.
Radiology case reportsPelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.
Radiology case reportsThe Hidden Perils of Allopurinol: A Systematic Review of Allopurinol-Induced DRESS (Drug Reaction With Eosinophilia and Systemic Symptoms) Syndrome.
CureusImplantable cardioverter-defibrillator utilization in coronary artery spasm: A case series of cardiac arrest survivors and a patient with typical angiography.
American heart journal plus : cardiology research and practiceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de macrocefalia-baixa estatura-paraplegia.
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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 macrocefalia-baixa estatura-paraplegia
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
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Perguntas, dicas e experiências compartilhadas aqui na página
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Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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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.
- Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
- Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
- Antibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.
- Malnutrition: an overlooked geriatric syndrome in older adults with type 2 diabetes.
- [Endogenous Alcohol Production in the Human Micro- and Mycobiome: Auto-Brewery Syndrome].
- Improvement of Progressive Vanishing Lung Syndrome in COPD: A 7-Year Radiological Evolution Case Report and Literature Review.
- Anastomotic leakage increases the risk of major low anterior resection syndrome 3 years after rectal cancer surgery.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2427(Orphanet)
- MONDO:0016571(MONDO)
- GARD:172(GARD (NIH))
- Q55786312(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