1º Simpósio de Discinesia Ciliar Primária
1º Simpósio de Discinesia Ciliar Primária
A região Norte conta com um serviço externo de diagnóstico de ciliopatias sediado no ICBAS, que trabalha em articulação com vários hospitais para acelerar o diagnóstico da Discinesia Ciliar Primária (DCP). Este serviço realiza análise da função ciliar por videomicroscopia de alta velocidade, avaliação estrutural por microscopia eletrónica de transmissão e, após identificação de uma mutação, estudos de imunofluorescência para determinação da sua consequência, incluindo ainda o estudo familiar subsequente.
A DCP é uma doença hereditária que compromete gravemente todo o aparelho respiratório desde o nascimento, evoluindo frequentemente para rinosinusite crónica, otite média crónica e bronquiectasias, além de poder afetar a lateralidade e a fertilidade. O diagnóstico clínico é complexo e exige a aplicação rigorosa de critérios específicos.
Com o objetivo de promover um diagnóstico mais precoce e eficaz — permitindo melhorar os cuidados prestados aos doentes e aliviar o seu sofrimento — decidimos organizar um Simpósio dedicado à DCP.
Objetivos do Simpósio
- Esclarecer como se realiza o diagnóstico clínico da DCP.
- Apresentar os exames necessários para exclusão diferencial.
- Detalhar os exames de confirmação atualmente recomendados.
- Destacar as opções de tratamento disponíveis.
Este encontro pretende, igualmente, reforçar a colaboração entre profissionais de saúde, promover a partilha de conhecimento e fortalecer a rede de apoio dedicada ao diagnóstico e acompanhamento da DCP.
Junte-se a nós neste evento, contribuindo para uma resposta mais célere, informada e humana no combate à Discinesia Ciliar Primária.
Events
Latest announcements:
1º Simpósio de Discinesia Ciliar Primária
Date: 22/06/2026Seminars UMIB 2025 – Epilepsy in a Dish: A Novel In Vitro Microglia Model
Date: 19/11/2025Seminars UMIB 2025 – Surgical sperm retrieval in men with non-obstructive azoospermia
Date: 16/10/2025International Seminars 2025 – International genetic counselling: Emerging issues in a rapidly advancing profession
Date: 02/10/2025Seminars UMIB 2025 – Tumor molecular profiling and non-invasive liquid biopsy to fine-tune adrenocortical carcinoma diagnosis
Date: 24/09/2025Seminars UMIB 2025 – Therapeutic Innovation in the Field of Oncology
Date: 17/09/2025International Communication 2025 – Maternal Exposure to Plastic Waste and Effects Offspring: Cancer as a Developmental Disease
Date: 25/06/2025Seminars UMIB 2025 – From Metals to Mind
Date: 04/06/2025Seminars UMIB 2025 – Why is GLP-1 safe from causing hypoglycaemia?
Date: 28/05/2025Update Course of Peritoneal Dialysis – 17th Edition 2025
Date: 19/05/2025 to 20/05/2025 19-20 may – PORTOSeminars UMIB 2025 – Cilia in neural cells: from microcephaly to sensory dysfunction
Date: 26/03/2025International Seminars UMIB 2025 – Single cell resolution of an epigenetic signature in chemotherapy persister tumor cells
Date: 18/03/2025Seminars UMIB 2025 – From function to dysfunction: the role of transthyretin in neuronal health and disease
Date: 12/03/2025Seminars UMIB 2025 – Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders
Date: 26/02/2025Seminars UMIB 2025 – 99mTC-DPD Scintigraphy across kidney and heart in ATTR V30M Amyloidosis: an adapted staging system
Date: 12/02/2025Seminars UMIB 2025 – Polymorphic loss-of-function variants in human genes: implications for therapeutics and healthcare
Date: 29/01/2025Seminars UMIB 2024 – Aneurysmal degeneration of donor arteries of arteriovenous fistulas in renal transplant patients.
Date: 30/10/2024Seminars UMIB 2024 – One egg: endless possibilities for biomedical research.
Date: 18/09/2024Seminars UMIB 2024 – Metabolic dysfunction-associated fatty liver disease in patients with obesity.
Date: 19/09/2024Seminars UMIB 2024 – Extracellular vesicles in Regenerative Medicine.
Date: 04/09/2024ITR MEETING 2024: Save the date November 6th
Date: 06/11/2024Seminars UMIB 2024 – Pharmacogenetic analyses and healthy aging.
Date: 26/06/2024Public exams of doctorate of graduate Andreia Sofia Ferreira Dias
Date: 19/06/2024Learn@Lunch – Tricks and Tips on scientific writing: from abstracts to grant proposals
Date: 05/06/2024Seminars UMIB 2024 – Living with Lupus – a path towards a global notion of the impact of the disease and its determinants.
Date: 12/06/2024Seminars UMIB 2023 – (Epi)genetics in Susceptibility of Mendelian and Complex Disorders
Date: 11/01/2023Seminars UMIB 2023 – Somatic Repeat Expansions as a Therapeutic Target for Trinucleotide Repeat Disorders
Date: 04/01/2023Seminars UMIB 2022 – The “non-model” models: from genomes to phenotypes
Date: 09/11/2022Seminars UMIB 2023 – Mitochondrial Quality Control and Metabolic Behavior in the Progression of Mild to Severe Hyperglycemia in kidney Epithelial Cells
Date: 18/01/2023Seminars UMIB 2022 – Epilepsy: from the brain to the cell
Date: 23/11/2022Seminars UMIB 2024 – Crossing the sea between Genetics and Epigenetics
Date: 05/06/2024Seminars UMIB 2024 – Strategies based on 3D Bioprinting and magnetic stimulation for modulating tendon regeneration and for providing reliable in vitro
Date: 22/05/2024International Seminars!
Date: 17/04/2024 Ilpo Huhtaniemi (Emeritus Professor Imperial College London) The multifaceted actions of testosteroneInternational Seminars!
Date: 28/02/2024 Matthew Brown & Emma Duncan 𝗣𝗿𝗼𝗳. 𝗗𝘂𝗻𝗰𝗮𝗻 and “The Genetics Revolution in Endocrinology: Translating Basic Research into Meaningful Clinical Outcomes in Bone Diseases and Beyond” & 𝗣𝗿𝗼𝗳. 𝗕𝗿𝗼𝘄𝗻 and the...Seminars UMIB 2023 – Inherited Platelet Disorders – phenotypic and genetic overview
Date: 15/11/2023Seminars UMIB 2023 – Volatilomics: from bench to bedside
Date: 08/11/2023Public exams of doctorate of graduate João Manuel Monteiro Chaves
Date: 23/10/2023Seminars UMIB 2023 – Photosensitivity in Epilepsy
Date: 24/10/2023Seminars UMIB 2023 – ID in War Times – Dental Implants in the Identification of Incinerated Bodies
Date: 25/10/2023UMIB SUMMIT 2023
Date: 29/11/2023Seminars UMIB 2023 – Models to Predict Plastic Degrading Enzymes with Application in Blue Biotechnology
Date: 18/10/2023Seminars UMIB 2023 – Bone Dysplasias: Transdisciplinary Approach
Date: 11/10/2023Seminars UMIB 2023 – Epigenetic regulation of epilepsy-related signallingpathways and its impact on epileptogenesis
Date: 31/05/2023Seminars UMIB 2023 – The effects of cryopreservation on the epigenome of human sperm
Date: 24/05/2023Seminars UMIB 2023 – Association of CFTR/Aquaglyceroporin interaction and (dys)function in male fertility
Date: 17/05/2023Seminars UMIB 2023 – Bis(2-ethylhexyl) phthalate disrupts energetic metabolism, causes oxidative stress and alters calcium homeostasis in the testis of Danio rerio
Date: 10/05/2023Seminars UMIB 2023 – Of Science and Serendipity: a NAD tale
Date: 03/05/2023Seminars UMIB 2023 – Aberrant glycosylation in gastric cancer: novel molecular mechanisms controlling disease progression
Date: 26/04/2023Seminars ITR 2023 – Physical Activity and Public Health
Date: 04/05/2023Seminars UMIB 2023 – The chick embryo ChorioAllantoic Membrane – CAM – model
Date: 19/04/2023Seminars UMIB 2023 – Primary ciliary dyskinesia in female infertility
Date: 29/03/2023Seminars UMIB 2023 – Chromosome instability: a biomarker beyond the diagnosis of Fanconi Anemia
Date: 22/03/2023Seminars UMIB 2023 – Adipose tissue immunology and Neospora caninum infection
Date: 15/03/2023Seminars UMIB 2023 – New technologies and public health: from pandemic prevention to alternative therapies
Date: 08/03/2023Seminars UMIB 2023 – Disease modeling for Mucopolysaccharidoses: a key step towards
understanding and treating these rare genetic disorders
Seminars UMIB 2023 – The Klinefelter Syndrome: a hidden disease
Date: 22/02/2023Seminars UMIB 2023 – The glucocorticoid receptor as a biomarker and neuronal therapeutic target of a disease-improving bile acid in SCA3/MJD
Date: 15/02/2023Seminars UMIB 2023 – BarFail: Unravelling the molecular signatures and mechanisms associated with obesity surgery failure
Date: 01/02/2023PAMEDINTERNA – Programa Porto’s Autoimmune Meeting Medinterna 2022
Date: 24/11/2022 to 26/11/2022Seminars UMIB 2022 – Forensic genetics and diagnostics: friends or foes?
Date: 16/11/2022Seminars UMIB 2022 – Genetic interactions in disease genes
Date: 02/11/2022Renal Meeting 2022
Date: 17/11/2022 to 19/11/2022Clinical Case Discussion of Heart Failure: Looking Beyond the Hazard Ratio and P-value
Date: 14/10/2022Genetic architecture of Primary Ovarian Insufficiency. Implications for Personalized Medicine Conference
Date: 21/09/2022European Incretin Study Group – Meeting 2022
Date: 29/09/2022 to 01/10/2022Portuguese Congress of Endocrinology 2021
Date: 29/01/2021 to 31/01/2021 The Scientific Seminars of UMIB are back! The seminars will be held on Wednesdays, at 13.30h, in the Amphitheater 3 of ICBAS/FF Complex, as a hybrid event, i.e, with limited...17th Portuguese Congress of Diabetes
Date: 11/03/2021 to 13/03/2021International COVID-19 Webinar
Date: 23/09/20205th Cycle of Scientific Seminars UMIB
Date: 01/09/2021 to 14/12/2022 The Scientific Seminars of UMIB are back! The seminars will be held on Wednesdays, at 13.30h, in the Amphitheater 3 of ICBAS/FF Complex, as a hybrid event, i.e, with limited...