Raras
Buscar doenças, sintomas, genes...
Deficiências qualitativas e quantitativas de plectina
ORPHA:209196DOENÇA RARA

Uma doença neuromuscular causada por problemas com a plectina, que pode não funcionar direito ou estar em quantidade inadequada. É caracterizada por distrofia muscular.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Uma doença neuromuscular causada por problemas com a plectina, que pode não funcionar direito ou estar em quantidade inadequada. É caracterizada por distrofia muscular.

🏥
SUS: Sem cobertura SUSScore: 0%
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

💪
Músculos
22 sintomas
🧬
Pele e cabelo
7 sintomas
🦴
Ossos e articulações
6 sintomas
🫁
Pulmão
5 sintomas
🦷
Dentes
3 sintomas
😀
Face
2 sintomas

+ 25 sintomas em outras categorias

Características mais comuns

Bronquiolite
Aplasia/Hipoplasia da pele
Fala hipernasal
Oftalmoplegia
Positividade para anticorpos do receptor de acetilcolina
Dificuldade para subir escadas
77sintomas
Sem dados (77)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 77 características clínicas mais associadas, ordenadas por frequência.

BronquioliteBronchiolitis
Aplasia/Hipoplasia da peleAplasia/Hypoplasia of the skin
Fala hipernasalHypernasal speech
OftalmoplegiaOphthalmoplegia
Positividade para anticorpos do receptor de acetilcolinaAcetylcholine receptor antibody positivity

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026192 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição.

PLECPlectinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity

LOCALIZAÇÃO

Cytoplasm, cytoskeletonCell junction, hemidesmosomeCell projection, podosome

VIAS BIOLÓGICAS (3)
Caspase-mediated cleavage of cytoskeletal proteinsType I hemidesmosome assemblyAssembly of collagen fibrils and other multimeric structures
MECANISMO DE DOENÇA

Epidermolysis bullosa simplex 5C, with pyloric atresia

A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5C is an autosomal recessive disorder characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
241.5 TPM
Fibroblastos
212.0 TPM
Músculo esquelético
151.2 TPM
Aorta
144.6 TPM
Artéria tibial
138.0 TPM
OUTRAS DOENÇAS (6)
autosomal recessive limb-girdle muscular dystrophy type 2Qepidermolysis bullosa simplex 5A, Ogna typeepidermolysis bullosa simplex 5C, with pyloric atresiaepidermolysis bullosa simplex 5B, with muscular dystrophy
HGNC:9069UniProt:Q15149

Variantes genéticas (ClinVar)

509 variantes patogênicas registradas no ClinVar.

🧬 PLEC: NM_201384.3(PLEC):c.11504A>G (p.Asp3835Gly) ()
🧬 PLEC: NC_000008.11:g.143927082dup ()
🧬 PLEC: NM_201384.3(PLEC):c.4594C>T (p.Gln1532Ter) ()
🧬 PLEC: NM_201384.3(PLEC):c.6456_6475del (p.Gln2154fs) ()
🧬 PLEC: NM_201384.3(PLEC):c.4072G>T (p.Glu1358Ter) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Deficiências qualitativas e quantitativas de plectina

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Caregiver and healthcare professional perspectives on drivers of routine immunisation uptake in East New Britain, Papua New Guinea: a qualitative study.

BMJ public health2026

Immunisation coverage varies across Papua New Guinea (PNG), with 40% of children in East New Britain Province (ENBP) classified as zero-dose (children missing diphtheria-tetanus-pertussis vaccine first dose (DTP1)) and 55% as under-immunised (missing DTP3) in 2023. This study aimed to understand routine childhood immunisation enablers and barriers in areas of ENBP reported to have highly variable DTP1, DTP3 and measles-rubella first-dose (MR1) coverage. Qualitative in-depth semi-structured interviews were conducted face-to-face with caregivers of children aged 9-23 months and healthcare professionals in Gazelle and Kokopo districts. Local research officers conducted interviews in Tok Pisin and English. Data were thematically analysed and mapped across the six UNICEF Journey to Health and Immunisation framework stages. 33 caregivers and 28 healthcare professionals were interviewed. Despite finding that a high proportion of caregivers' children had received DTP, DTP3 and MR1, participants identified a myriad of contextual caregiver and healthcare professional enablers and barriers to routine immunisation. Caregiver enablers included support provided by families and community-based services; barriers included limited immunisation knowledge, financial and travel challenges, and limited availability of healthcare professionals. Healthcare professional enablers included increased operational funds and working with community leaders, while barriers were focused on service delivery including costs, non-functioning aid posts and vaccine stockouts. Strategies suggested by participants for improving vaccine uptake included developing tailored immunisation communication materials, engaging community members to support routine immunisation promotion activities, and strengthening coordination between communities and healthcare professionals. This study highlights the challenge of identifying and including zero-dose children and their caregivers in research but still provides useful contextual focus points to enhance and inform tailored strategies to strengthen immunisation service delivery. These include strategies that improve bidirectional coordination and communication between healthcare professionals, community and religious leaders about routine immunisation, increase immunisation knowledge and strengthen community-based services for vaccine delivery.

#2

The use of an augmented reality app to support an exercise intervention for children and young people with cancer: perspectives of users and exercise and healthcare professionals in the FORTEe trial.

Frontiers in pediatrics2026

Mobile health (mHealth) technologies are increasingly used in paediatric oncology to promote physical activity, with growing evidence supporting their feasibility and effectiveness. Augmented reality (AR) is emerging as a promising addition, offering interactive features that may enhance participation in exercise for young people. As mHealth tools evolve, understanding user experiences and implementation challenges is essential to inform wider adoption in healthcare. The FORTEe clinical trial evaluates an individualised exercise programme designed for children, adolescents and young adults with cancer (CAYA). This sub-study explores the perspectives of CAYA and exercise and healthcare professionals involved in delivering the exercise intervention (exercise professionals) on the use of a novel AR application (app), designed to facilitate home-based exercise as part of the broader intervention. Key app features include personalised exercise programmes, AR demonstrations using a child-like avatar, and an integrated exercise diary. CAYA (9-21 years), and exercise professionals from the FORTEe trial's technology sub-study (six centres) were eligible. To explore experiences and perceptions of the AR app, half-structured interviews were conducted with CAYA and an anonymous online survey administered to exercise professionals. Interview data and open-ended text from survey was analysed using inductive qualitative content analysis. Survey data was analysed using descriptive statistics. A total of 46 CAYA (mean age 13.6 ± 2.7 years, 39% female) provided feedback on the AR app via interviews, and 31 exercise professionals completed the survey. CAYA and exercise professionals reported generally positive experiences, finding the AR demonstrations novel and engaging. The personalised workouts were valued by both groups. However, both groups reported some technical difficulties that impacted reliability, and that some features, such as the exercise diary, lacked usability. Exercise professionals emphasised the app should complement rather than replace face-to-face sessions. To enhance the app further, both groups suggested incorporating gamification and avatar customisation. This study emphasises the potential of AR technology to increase engagement in exercise among CAYA and highlights ways to optimise the technology. While AR shows promise in paediatric oncology care, it should complement in-person exercise interventions. Future development should prioritise user-friendly design, personalised approaches, and equal access for young patients.

#3

"We've managed to find our own path of how we do it": exploring parental perceptions of using age-inappropriate formulations at home-a qualitative study.

Frontiers in pediatrics2026

The administration of medicines to children poses distinct challenges, largely due to the limited availability of authorised, commercially available, age-appropriate formulations (AaFs). In the absence of suitable options, parents and carers are often required to manipulate age-inappropriate formulations (AiFs) to facilitate administration. However, little is known about their perceptions and experiences when administering AiFs to children at home. Qualitative exploratory study. Participants were recruited from a UK paediatric hospital. Semi-structured interviews were conducted either in participants' homes or at the hospital. Interviews were audio-recorded, transcribed verbatim, and thematically analysed using NVivo v10. Topics explored included formulation types, dosage form manipulation, medicine supply, and administration practices. Over sixty outpatient clinics were screened; 34 families expressed interest, and 13 completed interviews between September 2016 to February 2017 (mean duration: 35 min). Eleven interviews were conducted at home and two in hospital; 12 participants were mothers, and 8 of the 13 children discussed were female. Thematic analysis identified five key themes: (1) inappropriate formulations; (2) unlicensed medicine and off-label prescribing; (3) framework of appropriateness; (4) knowledge, training, communication, and relationships; and (5) patient and family experience. Parents often relied on prescriber instructions without fully understanding the implications of manipulating medicines, indicating a gap in support and knowledge transfer. These findings highlight the emotional and practical burdens families face when administering age-inappropriate medicines, including the time and effort required to ensure accurate dosing and safe administration. The study emphasises the need for increased access to child-appropriate formulations of essential medicines and more child-centred prescribing practices. Where legacy medicines remain the only option, healthcare professionals can support children to safely swallow solid oral dosage forms, such as tablets, and educate families on safe medicine manipulation. Further research is needed to better understand the magnitude of these burdens and guide future paediatric formulation development.

#4

Experiences and needs of individuals living with diabetic peripheral neuropathy: a qualitative systematic review and meta-synthesis.

Frontiers in neurology2026

This study synthesises qualitative literature on the lived experiences of patients with diabetic peripheral neuropathy (DPN) during their illness, aiming to help healthcare professionals understand patients' emotional perspectives and perceived needs, thereby facilitating the development of more effective medical interventions. The Joanna Briggs Institute meta-synthesis method was used to analyse the 10 included qualitative studies. By synthesising the original studies, four themes and 11 subthemes were extracted, comprehensively analysing patients' symptom experiences, physical-psychological-social impacts, self-management strategies, and needs. Healthcare professionals should emphasise foot care education, understand the connotations of self-compassion and pain catastrophizing, and develop individualised interventions for different populations to enhance patients' self-care abilities and improve their wellbeing. https://www.crd.york.ac.uk/PROSPERO/view/CRD420251051721, Unique Identifier: CRD420251051721.

#5

Underserved and overburdened: an ethnographic examination of rural animal sheltering.

Frontiers in veterinary science2026

In the US, rural communities face unique challenges to companion animal sheltering and welfare. Smaller municipalities often serve socially vulnerable populations but lack the fiscal and administrative capacity to provide robust public services, leaving animal welfare under-resourced, and deprioritized relative to other community needs. This study draws on interviews and ethnographic observations with shelter workers and animal rescuers in Oklahoma, a state with a large rural population, to better understand the organization and challenges of rural animal welfare services. Findings show large "shelter deserts" in rural areas, where many residents have limited or no access to public animal services and killing remains the predominant form of population control. As a result, the bulk of rural animal welfare work falls on volunteer or poorly paid rescuers. While some rural communities have successfully transitioned to "no kill" through relocation programs that move shelter animals out of state, animal welfare organizations continue to struggle with funding, staffing, and market access. Through three case studies, this article illuminates the common challenges and varied strategies rural communities employ to address service gaps and pursue the "no-kill" ideal in the absence of a sustained public commitment to providing "standard of care" animal welfare services. We conclude by discussing future research that can assess the generalizability of our findings and implications for animal welfare policy.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Capturing Youth Perceptions of Disasters Through Photovoice: A Qualitative Study.

Qualitative health research
2026

Tracing the Analytical Footprint of Belinostat: Exploring Pharmacology and Synthetic Framework.

Biomedical chromatography : BMC
2026

Exploring the aftermath of long-term challenges in patients with Transient Ischemic Attack: a qualitative study.

Disability and rehabilitation
2026

'Isn't It Just a Chat?' Allied Health Students' Experiences of Structured Clinical Supervision During Remote Placements in Australia.

The Australian journal of rural health
2026

Systems Biology and Multi-Omics in Asthma and COPD: A Systematic Review of Computational Approaches (2010-2024).

Journal of asthma and allergy
2026

Systematic review and meta-analysis of antioxidant treatment in patients with acute mountain sickness induced by high altitude exposure.

Frontiers in physiology
2026

A Qualitative Study on Midwife-Led Outpatient Care Quality from Multiple Perspectives Based on the Structure-Process-Outcome Model.

International journal of women's health
2026

Nutrition security under constraint: food shopping, cooking, and structural barriers among Mexican immigrants in the Bronx, NYC.

Food, culture, & society
2026

Healthcare Providers' Perception of Implementing the Bedside Exercises for Hospital Fitness (BE-FIT) Patient-Led Rehabilitation Program for Older Patients: A Qualitative Descriptive Study.

Clinical interventions in aging
2026

An Umbrella Review of Relational Enablers of Psychological Safety and Identity-Related Gaps in the Evidence: Implications for Healthcare and Organizational Settings.

Journal of healthcare leadership
2026

Strategic Dimensions of Risk Management in Dealing with CBRNE Events in Military Hospitals: A Qualitative Analysis with a Policy Approach from the Perspective of Experts.

Risk management and healthcare policy
2026

Evaluating the perceived implementation and impact of the chronic dispensing unit in the Western Cape.

Frontiers in health services
2026

Caregiver and healthcare professional perspectives on drivers of routine immunisation uptake in East New Britain, Papua New Guinea: a qualitative study.

BMJ public health
2025

Polyp Detection in Colonoscopy Training: A Qualitative Analysis of Resident Challenges and Expert Strategies.

Proceedings of the Human Factors and Ergonomics Society ... Annual Meeting. Human Factors and Ergonomics Society. Annual meeting
2026

The use of an augmented reality app to support an exercise intervention for children and young people with cancer: perspectives of users and exercise and healthcare professionals in the FORTEe trial.

Frontiers in pediatrics
2026

"We've managed to find our own path of how we do it": exploring parental perceptions of using age-inappropriate formulations at home-a qualitative study.

Frontiers in pediatrics
2025

Implementing an online-delivered exercise program for childhood cancer survivors: A hybrid effectiveness-implementation protocol for the MERRIER study.

JSAMS plus
2025

Gym entry fees act as a barrier to exercising in community gyms for young adults with disability: A mixed methods study.

JSAMS plus
2025

Investigating Knowledge and Determinants of Birth Preparedness among Pregnant Women in Mangochi District.

Malawi medical journal : the journal of Medical Association of Malawi
2025

Experiences of the caregivers on the healthcare and psychosocial services available for cerebral palsy children in Mangochi district in Malawi.

Malawi medical journal : the journal of Medical Association of Malawi
2025

Barriers and Enablers to All-Oral Multi-Drug Resistance Tuberculosis Treatment Adherence in Traditional Authorities Chimwala and Chowe, Mangochi District, Malawi.

Malawi medical journal : the journal of Medical Association of Malawi
2025

A qualitative exploration of the implementation of a participation-focused physical activity intervention according to the family of participation related constructs framework.

JSAMS plus
2026

Experiences of Healthcare Providers and Households Facing Healthcare Costs in Eastern Kasai/DR Congo: A Qualitative Analysis.

ClinicoEconomics and outcomes research : CEOR
2026

Experiences and needs of individuals living with diabetic peripheral neuropathy: a qualitative systematic review and meta-synthesis.

Frontiers in neurology
2026

Artificial intelligence and breast cancer screening in Serbia: a dual-perspective qualitative study among radiologists and screening-aged women.

Frontiers in radiology
2026

Understanding home psychiatric nursing: a phenomenological study on nurses' challenges, emotional resilience, and professional growth in Jeddah, Saudi Arabia.

Frontiers in public health
2026

From internal echoes to sharing experiences: transformative learning with voice apps to enhance transgender care literacy in medical students.

Frontiers in public health
2026

Multiple methods findings from a systematic scoping review and qualitative interviews to inform LGBTQ+ affirming practices for nursing education.

Frontiers in public health
2026

Strengthening tobacco control policy: using plain packaging to reduce product appeal and enhance public awareness.

Frontiers in public health
2026

Clinical studies on the effect of type 1 diabetes on oral health in children and adolescents aged 6-17 years. A literature review.

Medicine and pharmacy reports
2026

Enhancing college students' AI literacy through generative AI use: a mixed-methods investigation.

Frontiers in psychology
2026

Finding Home in the Foreign Land: Experience of Indonesian Nurses in Australia.

Journal of multidisciplinary healthcare
2026

Underserved and overburdened: an ethnographic examination of rural animal sheltering.

Frontiers in veterinary science
2026

Jingdezhen ceramic culture in the digital era: a qualitative inquiry into digital dissemination and platform innovation.

Frontiers in big data
2026

Professional perspectives on roles and structural gaps in interprofessional collaboration for suicide prevention: a qualitative study.

Frontiers in psychiatry
2026

Four decades of ADHD: a systematic AI-assisted analysis of conceptual shifts across six DSM editions.

Frontiers in psychiatry
2026

Development and Psychometric Validation of the ASMA Medication Adherence Questionnaire for Adults with Type 2 Diabetes in Saudi Arabia: A Cross-Sectional Study.

Patient preference and adherence
2026

Embracing bilingualism in healthcare education: key stakeholders' voices.

Frontiers in medicine
2026

From sedation to stimulation: anecdotal case reports of enhanced sexual arousal in men and women taking diphenhydramine hydrochloride.

Sexual medicine
2026

Navigating social networks in cancer care: a phenomenological exploration of patient experiences.

Ecancermedicalscience
2026

Systematic review of different approaches for performance enhancement in elite sport.

Frontiers in artificial intelligence
2026

Generative AI as a conditional job resource under job demands in academic knowledge work: directed content analysis using the job demands-resources framework.

Frontiers in artificial intelligence
2026

Navigating tensions between scientific advancement and ethical practice in biobanking: a qualitative study in Japan.

Frontiers in genetics
2026

Sexual and Reproductive Health Needs for Adolescents with Autistic Spectrum Disorder in Rwanda, A Phenomenological Study.

Pediatric health, medicine and therapeutics
2025

Mapping meanings: methodological innovations to restore memories of place in a public park in Santiago de Chile.

Frontiers in psychology
2026

Do Early Intervention Services Improve Outcomes for Women Experiencing Violence? A Qualitative Case Study of the Perspectives of Staff at a Domestic Violence Resource Centre in a Regional Area of Australia.

Violence against women
2026

A Youth-Led Evaluation of Adolescent Involvement in a Project on Development of Guidelines for Adolescent Involvement in Health Research.

Health expectations : an international journal of public participation in health care and health policy
2026

"Courtesy stigma": associative stigma experienced by Indonesian mental health nurses working in a psychiatric setting: a qualitative study.

International journal of qualitative studies on health and well-being
2026

A qualitative study exploring clinicians' experiences of the use of interpreters in mental health assessment.

Irish journal of psychological medicine
2026

The sex difference in plasma cystatin C is age-dependent: a systematic review and meta-analysis.

Critical reviews in clinical laboratory sciences
2026

Stakeholder Perspectives on Ear and Hearing Health Service Provision for Aboriginal and Torres Strait Islander Children.

The Australian journal of rural health
2026

Injuries, Injections, and Internet Forums: A Qualitative Study of Reddit User Perspectives on Peptide Therapy After Orthopaedic Surgery.

Sports health
2026

Exploring the Needs and Challenges of the Geriatric Population of Botswana (60+years Old): A Qualitative Study.

Journal of aging & social policy
2026

Evaluating synthetic substitutes to reduce illegal harvesting and support species recovery.

Conservation biology : the journal of the Society for Conservation Biology
2026

Qualitative Study of Breast Cancer and Lymphoma Patients Participating in a Physical Activity Intervention: The Case for Tailored Physical Activity.

Cancer medicine
2026

Exploring medication safety in prisons: a scoping review.

BMJ open
2026

Access to primary care for people with chronic pain: a lived/living experience-informed mixed-methods study protocol.

BMJ open
2026

Struggling to cope in an unknown realm: a qualitative study of moral resilience in frontline healthcare professionals in Swedish hospital wards during a pandemic crisis.

BMJ open
2026

What do patients think about home-based testing for better asthma diagnosis? Insights from a qualitative study.

BMJ open
2026

Bayesian randomised controlled trial of guided parent-delivered cognitive behavioural therapy for children with anxiety disorders via remote sessions in Japan: a study protocol.

BMJ open
2026

Biological research on mental pain, social pain and other pains not primarily felt in the body: methodological systematic review.

The British journal of psychiatry : the journal of mental science
2026

Co-Design of a Sleep Improvement Intervention for Persons Living With Dementia Boarding in the Emergency Department.

Academic emergency medicine : official journal of the Society for Academic Emergency Medicine
2026

Essential connections: the impact of a hospital-to-community referral intervention on nutrition care and health outcomes in older adults with malnutrition: a hybrid type 2 implementation effectiveness study protocol.

Journal of health, population, and nutrition
2026

The latent determinants of higher order parity births (HOB) in Cheyyar & Tenkasi districts of Tamil Nadu - a qualitative exploration.

Contraception and reproductive medicine
2026

Alignment strategy does not confer clinically meaningful advantages in medial pivot total knee arthroplasty: a systematic review and meta-analysis.

Journal of orthopaedic surgery and research
2026

Educational frameworks for zoonotic malaria prevention: a narrative review integrating behavioural theory, participatory design, and instructional models for Plasmodium knowlesi in Southeast Asia.

Malaria journal
2026

Mapping the socio-ecological influences on child food literacy: a systematic scoping review.

Systematic reviews
2026

Identification of user personas for self-management in patients with permanent enterostomy to improve personalized nursing practice: a descriptive qualitative study.

BMC nursing
2026

From stigma to strength: voices of women in Malawi after obstetric fistula repair.

Tropical medicine and health
2026

Donor age and sex program MSC secretome signaling: a quadrant framework for precision therapy.

Stem cell research & therapy
2026

Structural challenges and strategic responses in Iran's COVID-19 management: insights from healthcare experts.

BMC public health
2026

Content analysis of illegal online advertisements for hypertension-related drugs and supplements in Taiwan.

BMC public health
2026

"It's very difficult to navigate the health care system": structural barriers and the need for affirming care for LGBTQ+ young adults.

BMC health services research
2026

Ambulance professionals' perspectives on telemedicine: a qualitative study to inform user-centred implementation.

BMC health services research
2026

Environmental and chemical modulation of Staphylococcus aureus Newman biofilm formation.

Applied microbiology and biotechnology
2026

Psychosocial impact of false-positive surveillance for hepatocellular carcinoma: a qualitative study.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer
2026

Should body mass index be considered when assessing caries severity in adults?

Evidence-based dentistry
2026

Clinical impact of acute symptomatic vertebral fractures in the United States: A patient survey and chart review.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2026

ARETA (Alpine caRbon cyclE daTAset): a dataset on physical, chemical and isotopic data of Alpine groundwaters.

Scientific data
2026

"Oh, who's the mum?": a thematic analysis of neonatal experiences of lesbian and queer+ parents.

Journal of reproductive and infant psychology
2026

Perceptions, Motivations and Empowerment Experiences of Nurses in Refugee Camps: Systematic Review and Meta-Synthesis.

International nursing review
2026

Masculine Identity Reconstruction and Sexual Behavior Transformation Among Men Living With HIV in Indonesia-Malaysia Border Region: A Social Ecological Phenomenological Study.

The Journal of the Association of Nurses in AIDS Care : JANAC
2026

Indigenous Perspectives on Infant Feeding in Women Living With HIV Developing Community-Driven Consensus in Canada: A Qualitative Study.

The Journal of the Association of Nurses in AIDS Care : JANAC
2026

Associations between psychosocial work environment factors and the well-being of frontline hospital managers: A cross-sectional study.

Health care management review
2026

Medical device errors in intensive care units and patient safety: a systematic review.

Expert review of medical devices
2026

What We Need to Know About Cancer Immunotherapy: A Qualitative Study of Patient, Family and Healthcare Professional Preferences for Written, Visual and Animated Information.

Seminars in oncology nursing
2026

Review: How do we measure welfare on farm? Indicators, proxies and gold standards.

Animal : an international journal of animal bioscience
2026

Renegotiating Autonomy in Early-Stage Dementia: Stigma, Disclosure, and Identity.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2026

User Testing an mHealth Behavioral Health App for Hopi/Tewa Youth During the COVID-19 Pandemic: Usability Study.

JMIR formative research
2026

Logic model development through a feasibility RCT for a group-based weight management programme.

BMJ open
2026

Strengthening and Targeted Rehabilitation for Optimal Neuromuscular Gains for chronic BACK pain (STRONG-BACK): protocol for a randomised controlled trial in participants with primary nociceptive pain drivers.

BMJ open
2026

Understanding patient experiences of a community-based intervention to improve bowel screening uptake: a mixed-method evaluation of Call for a Kit clinics.

BMJ open
2026

Experiences of internet addiction among junior college students in Taiwan: a qualitative descriptive phenomenological study.

BMJ open
2026

Person-Centered Multimorbidity Care in UK Primary Care: Identifying Changes to Practice.

Annals of family medicine
2026

When High Scores Hide Realities: Enhancing Patient Survey Data Through Joint Display.

Annals of family medicine
2026

'Getting comfortable with the uncomfortable': barriers, facilitators and influences on reproductive health discussions from Hispanic women with systemic lupus erythematosus in the USA - a qualitative study.

Lupus science & medicine
2026

Stakeholder-Informed Needs Assessment for Open Notes Curriculum in Inpatient Pediatrics.

Academic pediatrics
2026

Subclinical anxiety is associated with reduced self-distancing and enhanced self-blame-related connectivity between anterior temporal and subgenual cingulate cortices.

Progress in neuro-psychopharmacology & biological psychiatry
2026

Osteoarthritis with an intact rotator cuff, reverse shoulder arthroplasty, or total shoulder arthroplasty? : a qualitative study of surgeon decision-making.

Bone & joint open
2026

[Feasibility and benefits of a check-up 45+for identifying rehabilitation and disease prevention needs in primary care - A multiperspective qualitative study].

Die Rehabilitation
2026

Texas student pharmacists' approaches to community pharmacy drug diversion: A mixed-methods study using criminal justice models.

Currents in pharmacy teaching & learning
2026

Pull through together or be detached? A qualitative study of experiential learning in nurse education during interaction in age suit simulation.

Nurse education today
2026

Post-traumatic growth among young and middle-aged family caregivers of patients with advanced cancer in China: A theory-guided thematic analysis using the ABC-X model.

European journal of oncology nursing : the official journal of European Oncology Nursing Society
2026

Elevating quality of life in Saudi special education by using teacher and student insights to develop future-ready programs.

Acta psychologica
2026

The dual nature of workplace incivility in the Indian IT sector: Exploring factors shaping perceptions of 'opportunity' or 'harm'.

Acta psychologica
2026

Diagnostic accuracy of the World Health Organization ICOPE screening tool in Brazilian older adults: a cross-sectional study.

Clinics (Sao Paulo, Brazil)
2026

Template-free fabrication of reconfigurable magnetic micropillars and filaments through controlled Nanoflower assembly and actuation.

Journal of colloid and interface science
2026

Rethinking resilience in dairy cattle: Farmer perceptions of a multisystemic concept.

Preventive veterinary medicine
2026

Farewell, grief and depression of individuals who lost close relatives during social isolation: A mixed methods study.

Atencion primaria
2026

Barriers and enablers to penicillin allergy assessment and testing in the intensive care unit: A mixed-methods study.

Journal of critical care
2026

Warm hands entangled in cold technology? Psychologists' tinkering expertise in digital psychiatry.

Social science & medicine (1982)
2026

Challenges of Standard Pediatric Epilepsy Monitoring and the Potential Benefits of Contactless Sensor Technologies: Exploratory Qualitative Study.

Journal of medical Internet research
2026

A Culturally Tailored Mobile Health Intervention to Improve Quality of Life in Black Survivors With Prostate Cancer: Protocol for a Stratified Randomized Controlled Trial.

JMIR research protocols
2026

Development of a Culturally Adapted Smartphone App (IndigeQuit) Designed to Help American Indian and Alaska Native People Quit Commercial Cigarettes: User-Centered Mixed Methods Study.

JMIR formative research
2026

Virtual Reality-Based Avatar Intervention for Eating Disorders: Mixed Methods Feasibility Study.

JMIR formative research
2026

Evaluating Patient and Professional Satisfaction and Documentation Time Reduction Through AI-Driven Automatic Clinical Note Generation in Primary Care: Proof-of-Concept Study.

JMIR AI
2026

Development and Formative Usability Evaluation of a Theory-Driven Progressive Web Application for Young Adult Wellness Engagement (MiCARE): Protocol for a Mixed Methods Study.

JMIR research protocols
2026

Influencing Factors of Mobile Health Apps in Kidney Transplant Care: Systematic Review Using the Consolidated Framework for Implementation Research.

JMIR medical informatics
2026

Help on Demand, a Self-Directed Mobile App Intervention for Gambling Problems: Development and Usability Study.

JMIR formative research
2026

Patients' Transitions and Recovery From Hospital to Everyday Life After Admission for Acute Pancreatitis: A Qualitative Study.

Gastroenterology nursing : the official journal of the Society of Gastroenterology Nurses and Associates
2026

Evaluation of a Retrieval-Augmented Generation Chatbot for Antimicrobial Resistance Research: Comparative Analysis of Large Language Models.

JMIR AI
2026

The Influence of Language Dominance, Type of Language, and Narrative Task on Speech Disfluencies in Typically Fluent Bilingual English-Mandarin Children.

Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP)
2026

Technology-Driven Group Exercise Program Implementation in an Underserved Community: Multimethod Retrospective Evaluation Study.

JMIR rehabilitation and assistive technologies
2026

Using ChatGPT‑4.0 to Address Nurse Scheduling Challenges in a Cardiology Clinic.

The Journal of nursing administration
2026

Evaluating Clinicians' Perspectives on Initiation of Medications for Opioid Use Disorder During Psychiatric Admissions.

Journal of addiction medicine
2026

The Current Landscape of Remote Digital Symptom Monitoring for Patients With Lung Cancer: Scoping Review.

Journal of medical Internet research
2026

Strengthening Health Care Professionals' Collaborative Responses to Women Experiencing Intimate Partner Violence in Pregnancy: Protocol for an Exploratory Mixed Methods Study.

JMIR research protocols
2026

'Fend for yourself': Nurses' experiences transitioning to Family Care Team practice settings in Newfoundland and Labrador.

PloS one
2026

Subject-specific modeling of response to physical stress via hypothalamic-pituitary-adrenal and sympathoadrenal axes.

PloS one
2026

Optimizing Hospital Discharge Planning: Empirical Insights and Requirements of AI-Based Technologies From an Explorative Mixed Methods Field Study.

JMIR formative research
2026

What if I die? Existential crises when caring for persons with severe mental disorders in rural South Africa.

PLOS mental health
2026

Measuring and valuing spillover effects in caregivers and families: A scoping review.

PloS one
2026

Fab-Fc and Fab-Fab interactions of variable strength and valency contribute to the high concentration viscosity of IgG1 antibodies.

Proceedings of the National Academy of Sciences of the United States of America
2026

Process evaluation of enhanced community health system activities to improve detection and management of acute malnutrition in Samburu County, Kenya.

PLOS global public health
2026

Home over institution? New insights on older adults' care preferences from a mixed-methods study in France.

PloS one
2026

Risk assessment for cardiovascular adverse drug events in the ICU: Case study on COVID-19 patients.

PloS one
2026

Practice-Based Research in an Educational Context: A Qualitative Investigation of Facilitators, Barriers, and Partnership Experience.

Language, speech, and hearing services in schools
2026

HHead motion correction based on pilot tone signals in MRI - a referenceless method.

IEEE transactions on medical imaging
2026

Audiology Students' Experiences of a Near-Peer Simulated Patient Program.

American journal of audiology
2026

Operational Challenges in Home-Based Newborn Care (HBNC) Program Delivery in Delhi: A Qualitative Study.

Indian pediatrics
2026

A qualitative study exploring the perceptions of young people, parents, and therapeutic counsellors on young people's engagement with therapeutic counselling in Malawi.

Discover mental health
2026

Corneal thinning and perforation: a narrative review of diagnostic and stepwise management strategies.

International ophthalmology
2026

Crossed cerebellar diaschisis on CT perfusion in large vessel occlusion stroke: early predictors and clinical relevance in the hyperacute phase.

Journal of neurology
2026

Ethical AI innovation in healthcare and sustainable development in Bangladesh.

Journal of health organization and management
2026

Deep learning reconstruction enables accelerated T2-weighted MRI for rectal cancer staging: a prospective study of diagnostic consistency across NEX value reduction.

Abdominal radiology (New York)
2026

Exploring the mental health impact of chikungunya fever: a scoping review.

Infectious diseases (London, England)
2026

Impact of Leadership Structures on Sterile Processing Performance and Patient Safety.

Biomedical instrumentation & technology
2026

Understanding Refugee Adolescents' Occupational Participation Challenges Through the Kawa Model: A Thematic Analysis.

The American journal of occupational therapy : official publication of the American Occupational Therapy Association
2026

Exploring school nurses' experiences of a metaverse-based infectious disease simulation training: qualitative study.

International journal of qualitative studies on health and well-being
2026

Cadaver embalming with the formaldehyde intraosseous injection: a technical note.

Folia morphologica
2026

Domain-Conditioned and Temporal-Guided Diffusion Modeling for Accelerated Dynamic MRI Reconstruction.

NMR in biomedicine
2026

Mindful Embodied Movement: Study Protocol for a 12-Week Modern Dance-Mindfulness Intervention and Mixed-Methods Randomized Controlled Trial in Recreational Adult Dancers.

Methods and protocols
2026

A Data-Driven Approach for Comparing Gaze Allocation Across Conditions.

Journal of eye movement research
2026

Preventing Congenital Syphilis Through Prenatal Care: Qualitative Findings from a Pilot Clinical Program.

Sexually transmitted diseases
2026

Intention/Reflection (I/R) Practice Creates a Deeper APPE Connection for Student Pharmacists After COVID-19.

Pharmacy (Basel, Switzerland)
2026

Pharmacy Students' Perceptions of Self-Reflection and Peer and Educator Feedback on the Development of Patient Counselling Skills: A Qualitative Analysis.

Pharmacy (Basel, Switzerland)
2026

Medical, Surgical, and Combined Approaches in Pediatric Hydatid Liver Disease: A Systematic Review.

Pediatric reports
2026

Aging Successfully Despite Limitations? Meanings and Perceptions of Aging Well Among Older Adults Living in Long-Term Care Institutions.

Geriatrics (Basel, Switzerland)
2026

Disposition at Equipoise: A Qualitative Study of Emergency Physicians' Decision-Making About Hospitalizing People With Dementia.

Academic emergency medicine : official journal of the Society for Academic Emergency Medicine
2026

Barriers and Facilitators to Accessing Preventive Services for Chronic Diseases Among People From Bangladeshi and Nepalese Backgrounds Living in Sydney.

Health expectations : an international journal of public participation in health care and health policy
2026

Improving the emotional wellbeing of university students through culturally adapted cognitive and dialectical behavioral group interventions: protocol for two parallel feasibility and effectiveness studies.

Translational behavioral medicine
2026

'I can get all the services I want, without fear of being judged': Acceptability of a sexual and reproductive health service for youth in Zimbabwe.

Global public health
2026

Influences on Vaccine Decision-Making During Pregnancy.

Journal of midwifery & women's health
2026

'Beyond the Prescription': An Arts-Based Study of Older Adults Living With HIV and Their Primary Care Experiences in Ontario.

Health expectations : an international journal of public participation in health care and health policy
2026

Sibling Involvement and Documentation in Pediatric Eating Disorder Care.

The International journal of eating disorders
2026

Enhancing the Patient Experience in Cardiac Procedures: A Mixed-Methods Quality Improvement Study.

American journal of medical quality : the official journal of the American College of Medical Quality
2026

General practitioner training in youth suicide prevention: a systematic review.

Psychology, health & medicine
2026

Privatization of maternal care and women's access to quality healthcare: a case study on middlemen in Bangladesh.

Health policy and planning
2026

Contemporary clinical incident analysis methods used within acute care settings: a scoping review.

JBI evidence synthesis
2026

Water is K'é: A multi-level intervention to promote healthy beverage choices among Navajo families: Trial rationale and study protocol.

Nutrition and health
2026

Factors Associated With the Usability and Adoption of Continuous Monitoring Devices With Deterioration Alerting Systems in Acute Hospital Non-ICU Settings: A Mixed Methods Study.

Journal of nursing management
2026

Advancing Quantitative Susceptibility Mapping With 2.5D Diffusion Models for Rapid Intracranial Hemorrhage Quantification.

Magnetic resonance in medicine
2026

The role of financial distress as a patient-relevant endpoint in early benefit assessments for oncology drugs: a mixed-methods document analysis.

International journal of technology assessment in health care
2026

The road to a new normal - A qualitative study on relatives' needs and roles in amputation rehabilitation.

Clinical rehabilitation
2026

'Being empathetic to my patients and ourselves': a qualitative process evaluation of READ-Y psychological first aid training for healthcare workers working in routine care.

European journal of psychotraumatology
2026

Enhanced muscle MRI using deep learning: shorter acquisition time with improved image quality.

PeerJ
2026

Influence of Healthcare Worker Training on Support for Exclusive Breastfeeding: A Systematic Review.

International journal of women's health
2026

Mixed-Methods Evaluation of Programmatic Interventions on Academic Performance and Resident Perspectives in Internal Medicine Residency.

Advances in medical education and practice
2026

Outcome-Based Self-Directed Learning (OBSDL) in Pharmacology in the Indian Context: A Convergent Mixed-Method Study.

Cureus
2026

Unmet needs in patients with RA judged in remission by the rheumatologist: a semi-structured interview study.

Rheumatology advances in practice
2026

[Satisfaction following gender-affirming surgery].

Ugeskrift for laeger
2026

Outcomes from a Longitudinal Palliative Care Curriculum for Medical Students.

Journal of palliative medicine
2026

"Stress Off Our Shoulders": A Qualitative Pilot Study of a Neonatal Medical-Legal Partnership.

The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics
2026

Parental Priorities for Childhood Obesity Management in Primary Care.

Childhood obesity (Print)
2026

Barriers and Facilitators to COVID-19 Vaccine Rollout among Health Professional Students: A Qualitative Study from an Organizational Stakeholder Perspective.

Disaster medicine and public health preparedness
2026

Older Spouses' Decision-Making on Intubation for Older Patients: A Qualitative Study.

International journal of older people nursing
2026

Nursing Doctoral Theses Across Eight Countries: A Document-Based Qualitative Study.

Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing
2026

Generation Healthy Kids: a protocol for the mixed methods process evaluation of a school- and community-based intervention targeting healthy weight and wellbeing among 6-11-year-olds in Denmark.

Trials
2026

Cannabis consumption and problematic internet use: analysis of a free-text response collected through a self-reported online questionnaire.

BMC psychology
2026

Mentors' perspectives on multidisciplinary in situ simulation teaching for new nurses: a qualitative SWOT analysis in a top-tier hospital in Central China.

BMC nursing
2026

Elucidating the phase 1 trial experience among study participants following completion of the INTERCEPT-AD study of sabirnetug (ACU193) for early Alzheimer's disease: a qualitative interview study.

Trials
2026

Exploring sustainable leadership among first-line managers in healthcare: a qualitative study.

BMC health services research
2026

Couples' symbiotic experience in perinatal vulnerability: a phenomenological qualitative study.

BMC pregnancy and childbirth
2026

Screening practices for financial abuse of older people at a large metropolitan hospital: a qualitative study of health professionals.

BMC health services research
2026

Parental involvement in cognitive behavioral group treatment for adolescents with obsessive-compulsive disorder: a qualitative study.

BMC psychiatry
2026

Service providers' adaptations to facilitate family-centered care for children with cerebral palsy: a qualitative study.

BMC primary care
2026

Perceptions regarding the relevance of integrating an advanced practice physiotherapist into emergency department settings in Belgium: a qualitative exploratory study.

BMC emergency medicine
2026

Educating during the COVID-19 Pandemic: An Educator Perspective on Mental Health.

Disaster medicine and public health preparedness
2026

The experience of young adult cancer survivors' engagement with nature.

Journal of cancer survivorship : research and practice
2026

CT-to-MRI translation of medical volume data based on an enhanced diffusion model.

Scientific reports

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Deficiências qualitativas e quantitativas de plectina.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Deficiências qualitativas e quantitativas de plectina

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Caregiver and healthcare professional perspectives on drivers of routine immunisation uptake in East New Britain, Papua New Guinea: a qualitative study.
    BMJ public health· 2026· PMID 41878585mais citado
  2. The use of an augmented reality app to support an exercise intervention for children and young people with cancer: perspectives of users and exercise and healthcare professionals in the FORTEe trial.
    Frontiers in pediatrics· 2026· PMID 41878459mais citado
  3. "We've managed to find our own path of how we do it": exploring parental perceptions of using age-inappropriate formulations at home-a qualitative study.
    Frontiers in pediatrics· 2026· PMID 41878458mais citado
  4. Experiences and needs of individuals living with diabetic peripheral neuropathy: a qualitative systematic review and meta-synthesis.
    Frontiers in neurology· 2026· PMID 41878202mais citado
  5. Underserved and overburdened: an ethnographic examination of rural animal sheltering.
    Frontiers in veterinary science· 2026· PMID 41877914mais citado
  6. A roadmap for a patient-centred approach to Pompe disease management.
    J Neurol· 2026· PMID 41689635recente
  7. Patients with carpal tunnel syndrome show increased reliance on vision in reaching-to-grasp: a study of in-flight grasp kinematics in compressive nerve injury.
    J Neurophysiol· 2026· PMID 41432692recente
  8. Lived experiences of women with fibromyalgia in Türkiye: A qualitative study.
    J Back Musculoskelet Rehabil· 2026· PMID 41124361recente
  9. A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy.
    Orphanet J Rare Dis· 2025· PMID 41107965recente
  10. Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers.
    Disabil Rehabil· 2026· PMID 40842110recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:209196(Orphanet)
  2. MONDO:0016198(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. Q55786046(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

Deficiências qualitativas e quantitativas de plectina
Compêndio · Raras BR

Deficiências qualitativas e quantitativas de plectina

ORPHA:209196 · MONDO:0016198
MedGen
UMLS
C5680835
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades