A isocromossomo Yp é uma anomalia gonossômica rara caracterizada por várias apresentações clínicas, incluindo homens férteis normais e saudáveis, fenótipo masculino com infertilidade e homens com genitália ambígua ou masculinização incompleta.
Introdução
O que você precisa saber de cara
A isocromossomo Yp é uma anomalia gonossômica rara caracterizada por várias apresentações clínicas, incluindo homens férteis normais e saudáveis, fenótipo masculino com infertilidade e homens com genitália ambígua ou masculinização incompleta.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 6 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Isocromossomo Yp
Centros de Referência SUS
24 centros habilitados pelo SUS para Isocromossomo Yp
Centros para Isocromossomo Yp
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Postmarketing safety surveillance for GSK's AS01E-adjuvanted respiratory syncytial virus prefusion F protein-based vaccine in the USA: protocol for a non-interventional postauthorisation safety study.
In May 2023, the US Food and Drug Administration (FDA) initially approved an AS01E-adjuvanted respiratory syncytial virus (RSV) prefusion F protein-based vaccine (adjuvanted RSVPreF3) for adults aged ≥60 years. The approval was expanded in June 2024 to include adults 50-59 years of age at increased risk for RSV-associated lower respiratory tract disease. In this paper, we describe the protocol of a postmarketing safety study evaluating the association between adjuvanted RSVPreF3 and new-onset Guillain-Barré syndrome (GBS), acute disseminated encephalomyelitis (ADEM) and atrial fibrillation (AF) among adults ≥50 years of age in the USA and provide our rationale for key methodological decisions. The potential associations between adjuvanted RSVPreF3 and GBS, ADEM and AF will be evaluated using secondary healthcare data and the self-controlled risk interval (SCRI) design. Data from five research partners in the USA spanning August 2023 through June 2030 will be used for the conduct of yearly monitoring queries and, sample size permitting, SCRI analyses. Claims-based definitions for new-onset outcomes (first diagnosis in 365 days) are: ≥1 inpatient diagnosis for GBS and ADEM; ≥1 inpatient or ≥2 ambulatory/emergency diagnoses for AF. The primary risk and control windows are 1-42 and 43-84 days, respectively, for GBS and ADEM; and 1-8 and 9-16 days for AF. SCRI analyses for GBS and ADEM will include chart-confirmed cases. SCRI analyses for AF will adjust for the positive predictive value obtained from validation against charts. Conditional Poisson regression will be used to calculate incidence rate ratios. This study was approved by the Institutional Review Boards (IRB) of Harvard Pilgrim Health Care Institute; WIRB-Copernicus Group, Inc and its affiliates (collectively, 'WCG'); WCG IRB, Inc; and Sterling IRB, with Federal Wide Assurance (FWA) numbers FWA00000100, FWA00033319 and FWA00025632, respectively, for all participating research partners. Study results will be shared with the US FDA and publicly disseminated through national or international clinical or scientific conferences and peer-reviewed publications. This protocol has been registered in the Heads of Medicines Agencies-European Medicines Agency Real World Data Catalogues (EUPAS1000000486).
"How do I explain something I don't understand?": Young people's experiences of functional tics.
Functional tics (FTs) are sudden, involuntary movements or vocalisations resembling those in Tourette Syndrome but thought to arise from functional neurological mechanisms. Since the COVID-19 pandemic, there has been a sharp rise in FT presentations around the world, particularly among young people (YPs), with research linking social media platforms like TikTok to this sudden increase. Despite this surge, the lived experiences of YPs with FTs remain underexplored. This study aimed to understand how YPs experience FTs and how these affect daily life, wellbeing, sense of self, help-seeking, and coping. Twelve UK-based YPs aged 13-24 were recruited through third-sector organisations and online platforms using purposive sampling. Semi-structured interviews explored onset, impact, and coping with FTs. Data were analysed using Reflexive Thematic Analysis (RTA). Four themes were identified: Life Upended (sudden disruption and emotional upheaval); Help that Hurts (invalidating or fragmented support driving reliance on online spaces); Under the Spotlight (impact of visibility on identity and wellbeing); and Coming to Terms (developing coping strategies and resilience over time). This study demonstrates how FTs reshape YP's lives, identities, and experiences of seeking support, highlighting the need for compassionate, contextually informed approaches across clinical and everyday environments. Functional tics are sudden-onset, complex, involuntary movements and/or vocalisations that destabilise physical, psychological, social, and practical domains of young people’s lives.Stigmatising attitudes across support systems can lead to disbelief and dismissal, increase self-doubt and worsen distress, driving young people online for information, connection, and validation.To enable trust and engagement, clinicians should offer this population an informative and validating explanation of functional symptoms alongside a pragmatic and hopeful treatment plan.Even if specialist tic interventions are unavailable, professionals can nonetheless facilitate rehabilitation by addressing co-occurring and contextual difficulties, thereby supporting both coexistence with functional tics and improved psychological well-being.
Incidence and risk factors for hemodialysis access-induced distal ischemia after hemodialysis reliable outflow (HeRO) surgery.
Hemodialysis Reliable Outflow (HeRO) graft is vital for complex hemodialysis patients who have exhausted all other access options. Hemodialysis access-induced distal ischemia (HAIDI) is a serious complication, however, risk factors for HAIDI after HeRO graft operation are unknown. Institutional records were retrospectively reviewed for all index HeRO graft implantations performed between 2014 and 2023. Re-do HeRO grafts were excluded. Patient demographics, operative details, and postoperative outcomes were collected. Primary outcome was symptomatic HAIDI following HeRO surgery. Statistical analysis was performed using univariate tests, logistic regression analysis, and Kaplan-Meier estimates for patency. Over the 10-year study period, 232 index HeRO surgeries were performed of which 23 (9.9%) developed symptomatic HAIDI. Patients with HAIDI were older than their counterparts (64.0 ± 13.7 vs 57.0 ± 13.3 y, p = 0.008). All other demographic factors and comorbidities were similar between groups (p = NS each). For inflow, patients with HAIDI more frequently underwent brachial artery anastomosis (78.3% vs 65.1%, p = 0.04), and less frequently utilized a prior arteriovenous graft or fistula (8.7% vs 25.8%, p = 0.04). The use of a tapered graft was similar between groups (47.8% vs 31.1%, p = 0.10). On multivariable analysis, only patient age (hazard ratio (HR) 1.06 per year, 95% confidence interval [CI], 1.02-1.10, p = 0.003) was independently associated with symptomatic HAIDI. Tapered graft utilization was not associated with reduced risk of HAIDI (HR 0.75, 95% CI, 0.23-2.38, p = 0.61). Patients with HAIDI had significantly higher 30-day hospital readmission rates (34.8% vs 17.7%, p = 0.0049) and reduced secondary graft patency rates (1-year, 46.0 ± 11.4% vs 71.3 ± 3.6%; 3-year, 23.7 ± 11.1% vs 44.0 ± 4.8%, p = 0.01). Symptomatic HAIDI is fairly common after HeRO graft implantation and portends inferior long-term outcomes with older age being the only associated risk factor. Tapered conduits were not associated with reduced risk of HAIDI. These data are valuable for informed consent and shared decision-making among patients undergoing HeRO graft surgery.
Sleep apnoea and its consequences: from animal models to precision medicine.
A European Respiratory Society research seminar entitled "Sleep Apnoea and Its Consequences: From Animal Models to Precision Medicine" was held in January 2024 in Lisbon, Portugal. It provided an in-depth analysis of the current landscape and future directions in OSA research, integrating recent findings from metabolomics, animal models, clinical predictors of cardiometabolic consequences of OSA, artificial intelligence (AI), and advances in diagnostic algorithms. This article presents a narrative review of the seminar's key discussions and conclusions. The limitations of current randomized controlled trials (RCTs) in assessing OSA treatment, such as low adherence and patient selection bias (e.g., absence of sleepiness or severe hypoxemia), were critically discussed. The expert panel recommended the use of real-world data, including patients commonly seen in clinical practice, and the use of digital tools for real-time monitoring of adherence and side effects. The concept of platform "disease-focused" trials was discussed as a more efficient and adaptable research design that could allow clinical trials to be more representative of the general OSA population and to compare CPAP with emerging treatments such as new drugs, devices and lifestyle interventions to gain a broader understanding of effective management strategies. The seminar concluded that a multifaceted approach to OSA research that leverages the strengths of animal models, advanced AI, metabolomics, and improved diagnostic algorithms is needed to gain deeper insights into the mechanisms of OSA and its treatment response. This new approach, coupled with new "platform" clinical trial designs, could contribute to improved outcomes in patients with OSA.
Medicinal cannabis plant extract (NTI164) modifies epigenetic, ribosomal, and immune pathways in paediatric acute-onset neuropsychiatric syndrome.
Paediatric acute-onset neuropsychiatric syndrome (PANS) is a syndrome of infection-provoked abrupt-onset obsessive-compulsive disorder (OCD) or eating restriction. Based on the hypothesis that PANS is an epigenetic disorder of immune and brain function, a full-spectrum medicinal cannabinoid-rich low-THC cannabis (NTI164) was selected for its known epigenetic and immunomodulatory properties. This open-label trial of 14 children with chronic-relapsing PANS (mean age 12·1 years; range 4-17; 71 % male) investigated the safety and efficacy of 20 mg/kg/day NTI164 over 12 weeks. Clinical outcomes were assessed using gold standard tools. To define the biological effects of NTI164, blood samples were collected pre- and post-treatment for bulk and single-cell transcriptomics, proteomics, phosphoproteomics, and DNA methylation. NTI164 was well-tolerated, and 12 weeks of treatment decreased the mean Clinical Global Impression-Severity (CGI-S) score from 4·8 to 3·3 (p = 0·002). Significant improvements were observed in emotional regulation (RCADS-P, p < 0·0001), obsessive-compulsive disorder (CYBOCS-II, p = 0·0001), tics (YGTSS, p < 0·0001), attention-deficit hyperactivity disorder (Conner's, p = 0·028), and overall quality of life (EQ-5D-Y, p = 0·011). At baseline, the multi-omic approach revealed that leucocytes from patients with PANS had dysregulated epigenetic (chromatin structure, DNA methylation, histone modifications, transcription factors), ribosomal, mRNA processing, immune, and signalling pathways. These pathways were significantly modulated by NTI164 treatment. NTI164 shows promise as a disease-modifying therapeutic for PANS. Multi-omics reveal broad epigenetic and immune dysregulation in patients, which was modified by NTI164, presenting epigenetic machinery as a therapeutic target in PANS.
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The Journal of craniofacial surgeryAdenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers.
Clinical and translational gastroenterologyAnomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis.
Journal of clinical research in pediatric endocrinologyAn International Perspective on Preceding Infections in Guillain-Barré Syndrome: The IGOS-1000 Cohort.
NeurologyAntibody therapy reverses biological signatures of COVID-19 progression.
Cell reports. MedicineImmunogenicity After a Heterologous BNT262b2 Versus Homologous Booster in Kidney Transplant Recipients Receiving 2 Doses of CoronaVac Vaccine: A Prospective Cohort Study.
TransplantationAn azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12).
Clinical case reportsQuantifying the importance and location of SARS-CoV-2 transmission events in large metropolitan areas.
Proceedings of the National Academy of Sciences of the United States of AmericaA Prospective Study of Prevalence and Predictors of Cirrhotic Cardiomyopathy and Its Role in Development of Hepatorenal Syndrome.
Journal of clinical and experimental hepatologyDelirium in Critically Ill Cancer Patients With COVID-19.
Journal of the Academy of Consultation-Liaison PsychiatryNoninvasive Ventilation Exposure Prior to Intubation in Pediatric Hematopoietic Cell Transplant Recipients.
Respiratory careHigh-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line.
Taiwanese journal of obstetrics & gynecologyNeoadjuvant Immune Checkpoint Inhibition Improves Organ Preservation in T4bM0 Colorectal Cancer With Mismatch Repair Deficiency: A Retrospective Observational Study.
Diseases of the colon and rectumPotent Anti-SARS-CoV-2 Efficacy of COVID-19 Hyperimmune Globulin from Vaccine-Immunized Plasma.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Metabolic risk factors and effect of alirocumab on cardiovascular events after acute coronary syndrome: a post-hoc analysis of the ODYSSEY OUTCOMES randomised controlled trial.
The lancet. Diabetes & endocrinologyIdentification of Distinct Symptom Profiles in Cancer Patients Using a Pre-Specified Symptom Cluster.
Journal of pain and symptom managementA phase 1 study to evaluate the safety, tolerability and pharmacokinetics of TAK-041 in healthy participants and patients with stable schizophrenia.
British journal of clinical pharmacologyWorsening Postural Tachycardia Syndrome Is Associated With Increased Glucose-Dependent Insulinotropic Polypeptide Secretion.
Hypertension (Dallas, Tex. : 1979)Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.
The Lancet. NeurologyComplex rearrangements of Y chromosome suggest RPS4Y1 as lymphedema candidate gene.
Taiwanese journal of obstetrics & gynecologyBioprosthetic Total Artificial Heart in Autoregulated Mode Is Biologically Hemocompatible: Insights for Multimers of von Willebrand Factor.
Arteriosclerosis, thrombosis, and vascular biologyFunctional dyspepsia leads to more healthcare utilization in secondary care compared with other functional gastrointestinal disorders.
Journal of digestive diseasesPredicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score.
NeurologyNutrients, Cognitive Function, and Brain Aging: What We Have Learned from Dogs.
Medical sciences (Basel, Switzerland)Targeting folate receptor beta on monocytes/macrophages renders rapid inflammation resolution independent of root causes.
Cell reports. MedicineCarotid Plaque Composition Assessed by CT Predicts Subsequent Cardiovascular Events among Subjects with Carotid Stenosis.
AJNR. American journal of neuroradiologyMolecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
European journal of medical geneticsOpioids and obstructive sleep apnea.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineIntranasal vaccination with a Newcastle disease virus-vectored vaccine protects hamsters from SARS-CoV-2 infection and disease.
iScienceData on multiple SARS-CoV-2 surface glycoprotein alignments.
Data in briefAn Approach to Faculty Development for Underrepresented Minorities in Medicine.
Southern medical journalScreening of potent neutralizing antibodies against SARS-CoV-2 using convalescent patients-derived phage-display libraries.
Cell discoveryClinical Characteristics of SCN5A p.R965C Carriers: A Common Founder Variant Predisposing to Brugada Syndrome in Thailand.
Circulation. Genomic and precision medicineThe Reign of the Ventilator: Acute Respiratory Distress Syndrome, COVID-19, and Technological Imperatives in Intensive Care.
Annals of internal medicineTransient Vestibular Symptoms Preceding Posterior Circulation Stroke: A Prospective Multicenter Study.
StrokeOsmotic Demyelination Syndrome in Hospitalized Patients With Cirrhosis: Analysis of the National Inpatient Sample (NIS).
Journal of clinical gastroenterologyExploring the human lacrimal gland using organoids and single-cell sequencing.
Cell stem cellRight Ventricular Ejection Fraction for the Prediction of Major Adverse Cardiovascular and Heart Failure-Related Events: A Cardiac MRI Based Study of 7131 Patients With Known or Suspected Cardiovascular Disease.
Circulation. Cardiovascular imagingThe Ponseti Method for the Treatment of Clubfeet Associated With Amniotic Band Syndrome: A Single Institution 20-Year Experience.
Journal of pediatric orthopedicsIndividualized Polygenic Risk Score Identifies NASH in the Eastern Asia Region: A Derivation and Validation Study.
Clinical and translational gastroenterologyWomen with Type 1 diabetes (T1D) experience a shorter reproductive period compared with nondiabetic women: the Pittsburgh Epidemiology of Diabetes Complications (EDC) study and the Study of Women's Health Across the Nation (SWAN).
Menopause (New York, N.Y.)Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes.
Cancer medicineBrain Histopathology of Adult Decedents After Extracorporeal Membrane Oxygenation.
NeurologyActive management of hyponatraemia and mortality in older hospitalised patients compared with younger patients: results of a prospective cohort study.
Age and ageingEffect of Obstructive Sleep Apnea and CPAP Treatment on Cardiovascular Outcomes in Acute Coronary Syndrome in the RICCADSA Trial.
Journal of clinical medicineImmune-Modulating Drug MP1032 with SARS-CoV-2 Antiviral Activity In Vitro: A potential Multi-Target Approach for Prevention and Early Intervention Treatment of COVID-19.
International journal of molecular sciencesNeurocutaneous melanocytosis (melanosis).
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryC9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.
NeurologyPresence of Subclinical Hypercortisolism in Clinical Aldosterone-Producing Adenomas Predicts Lower Clinical Success.
Hypertension (Dallas, Tex. : 1979)[Prenatal diagnosis of a fetus with 46,XX (SRY positive) male syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe Evolving Surgical Burden of Fontan Failure: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database.
The Annals of thoracic surgeryIndian National Association for the Study of the Liver Consensus Statement on Acute Liver Failure (Part 1): Epidemiology, Pathogenesis, Presentation and Prognosis.
Journal of clinical and experimental hepatologyLiver Transplant in Acute Liver Failure - Looking Back Over 10 Years.
Journal of clinical and experimental hepatologyRisk of suicidal ideation, suicide attempts, and suicide deaths in persons with sleep apnea: Protocol for a systematic review and meta-analysis.
PloS oneHomeostatic and early-recruited CD101- eosinophils suppress endotoxin-induced acute lung injury.
The European respiratory journalThe Effect of Extracorporeal Shock Wave Therapy on Pain Intensity and Neck Disability for Patients With Myofascial Pain Syndrome in the Neck and Shoulder: A Meta-Analysis of Randomized Controlled Trials.
American journal of physical medicine & rehabilitationImpact of Sleep-Disordered Breathing on Functional Outcomes in Ischemic Stroke: A Cardiopulmonary Coupling Analysis.
StrokeA Modified Cosmetic Genioplasty Can Affect Airway Space Positively in Skeletal Class II Patients: Studying Alterations of Hyoid Bone Position and Posterior Airway Space.
Aesthetic plastic surgeryNeuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition.
Neurology. GeneticsFrequency and Distribution of Chest Radiographic Findings in Patients Positive for COVID-19.
RadiologyDifferences in quality of life outcomes after paraclavicular decompression for thoracic outlet syndrome.
Journal of vascular surgeryGrowth Rates of Genetically Defined Renal Tumors: Implications for Active Surveillance and Intervention.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyRoutine Continuous Electrocardiographic Monitoring Following Percutaneous Coronary Interventions.
Circulation. Cardiovascular interventionsTreatment of primary immunodeficiency with allogeneic transplant and gene therapy.
Hematology. American Society of Hematology. Education ProgramIntrauterine Growth Restriction Programs Intergenerational Transmission of Pulmonary Arterial Hypertension and Endothelial Dysfunction via Sperm Epigenetic Modifications.
Hypertension (Dallas, Tex. : 1979)Relationship of Lower-extremity Deep Venous Thrombosis Density at CT Venography to Acute Pulmonary Embolism and the Risk of Postthrombotic Syndrome.
RadiologyAlternations of Circadian Clock Genes Expression and Oscillation in Obstructive Sleep Apnea.
Journal of clinical medicineTeaching Video NeuroImages: Characteristic head jerks in congenital oculomotor apraxia due to Joubert syndrome.
NeurologyDoes Hirschsprung-Associated Enterocolitis Differ in Children With and Without Down Syndrome?
The Journal of surgical researchTelomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency.
The journal of obstetrics and gynaecology researchTen years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Molecular genetics and metabolism45,X/46,X,i(Yp): Importance of Assessment and Support during Puberty and Adolescence.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationCurrent treatment practice of Guillain-Barré syndrome.
NeurologyXEN Gel Stent in Pseudoexfoliative Glaucoma: 2-Year Results of a Prospective Evaluation.
Journal of glaucomaRisk Factors for Gastrointestinal Symptoms Following Successful Eradication of Clostridium difficile by Fecal Microbiota Transplantation (FMT).
Journal of clinical gastroenterologyRates of Ganglion Cell-Inner Plexiform Layer Thinning in Normal, Open-Angle Glaucoma and Pseudoexfoliation Glaucoma Eyes: A Trend-Based Analysis.
Investigative ophthalmology & visual scienceIGF-1 alleviates serum IgG-induced neuronal cytolysis through PI3K signaling in children with opsoclonus-myoclonus syndrome and neuroblastoma.
Pediatric researchChanges in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.
Orphanet journal of rare diseases[Predictive value of immature granulocytes for persistent systemic inflammatory response syndrome in patients with acute pancreatitis: analysis of 1 973 cases].
Zhonghua wei zhong bing ji jiu yi xueInsurance status and pediatric mortality in nonaccidental trauma.
The Journal of surgical researchTemporal Changes in Ventilator Settings in Patients With Uninjured Lungs: A Systematic Review.
Anesthesia and analgesiaProspective Evaluation of XEN Gel Implant in Eyes With Pseudoexfoliative Glaucoma.
Journal of glaucomaAssociation of Subclinical Intrastent Thrombus Detected 9 Months After Implantation of 2nd-Generation Drug-Eluting Stent With Future Major Adverse Cardiac Events - A Coronary Angioscopic Study.
Circulation journal : official journal of the Japanese Circulation Society[Pathogenesis of sepsis-induced myocardial dysfunction].
Zhonghua wei zhong bing ji jiu yi xueDoes Pisa syndrome affect upper limb function in patients with Parkinson's disease? An observational cross-sectional study.
NeuroRehabilitationParafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features.
The American journal of surgical pathologyA rare unbalanced Y:autosome translocation in a Turner syndrome patient.
Journal of pediatric endocrinology & metabolism : JPEMLeft-sided congenital heart lesions in mosaic Turner syndrome.
Molecular genetics and genomics : MGGIntestinal failure as a significant risk factor for renal impairment in children.
Nutrition (Burbank, Los Angeles County, Calif.)Randomized Comparison of Ridaforolimus- and Zotarolimus-Eluting Coronary Stents in Patients With Coronary Artery Disease: Primary Results From the BIONICS Trial (BioNIR Ridaforolimus-Eluting Coronary Stent System in Coronary Stenosis).
CirculationReproducibility of assessing fecal microbiota in chronic constipation.
Neurogastroenterology and motilityLevamisole in Frequently-relapsing and Steroid-dependent Nephrotic Syndrome.
Indian pediatricsEvacetrapib and Cardiovascular Outcomes in High-Risk Vascular Disease.
The New England journal of medicineImpact of Ezetimibe on the Rate of Cardiovascular-Related Hospitalizations and Associated Costs Among Patients With a Recent Acute Coronary Syndrome: Results From the IMPROVE-IT Trial (Improved Reduction of Outcomes: Vytorin Efficacy International Trial).
Circulation. Cardiovascular quality and outcomesInsufficient Recanalization of Thrombotic Venous Occlusion-Risk for Postthrombotic Syndrome.
Journal of vascular and interventional radiology : JVIRTelomere erosion in NF1 tumorigenesis.
OncotargetInitial Trabeculectomy With Mitomycin-C for Secondary Glaucoma-associated With Uveitis in Behçet Disease Patients.
Journal of glaucomaGenome-Wide Analysis of DNA Methylation and Acute Coronary Syndrome.
Circulation researchGenetic Drivers of Kidney Defects in the DiGeorge Syndrome.
The New England journal of medicineBiomarkers of adiposity are elevated in preterm very-low-birth-weight infants at 1, 2, and 3 y of age.
Pediatric researchCharacterisation of the genomic landscape of CRLF2-rearranged acute lymphoblastic leukemia.
Genes, chromosomes & cancerContactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
Journal of neuropathology and experimental neurologyPostprandial Monocyte Activation in Individuals With Metabolic Syndrome.
The Journal of clinical endocrinology and metabolismImmunogenic peptide mimotopes from an epitope of Escherichia coli O157 LPS.
The Biochemical journalAssociações
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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.
- Postmarketing safety surveillance for GSK's AS01E-adjuvanted respiratory syncytial virus prefusion F protein-based vaccine in the USA: protocol for a non-interventional postauthorisation safety study.
- "How do I explain something I don't understand?": Young people's experiences of functional tics.
- Incidence and risk factors for hemodialysis access-induced distal ischemia after hemodialysis reliable outflow (HeRO) surgery.
- Sleep apnoea and its consequences: from animal models to precision medicine.
- Medicinal cannabis plant extract (NTI164) modifies epigenetic, ribosomal, and immune pathways in paediatric acute-onset neuropsychiatric syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics· 2026· PMID 41513541mais citado
- Identification of Distinct Symptom Profiles in Cancer Patients Using a Pre-Specified Symptom Cluster.
- Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.
- C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.
- Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
- Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98797(Orphanet)
- MONDO:0020304(MONDO)
- GARD:19579(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55789293(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