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2.
BMC Emerg Med ; 23(1): 21, 2023 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-36809981

RESUMO

BACKGROUND: Emergency departments (EDs) serve an integral role in healthcare, particularly for vulnerable populations. However, marginalized groups often report negative ED experiences, including stigmatizing attitudes and behaviours. We engaged with historically marginalized patients to better understand their ED care experiences. METHOD: Participants were invited to complete an anonymous mixed-methods survey about a previous ED experience. We analysed quantitative data including controls and equity-deserving groups (EDGs) - those who self-identified as: (a) Indigenous; (b) having a disability; (c) experiencing mental health issues; (d) a person who uses substances; (e) a sexual and gender minority; (f) a visible minority; (g) experiencing violence; and/or (h) facing homelessness - to identify differences in their perspectives. Differences between EDGs and controls were calculated with chi squared tests, geometric means with confidence ellipses, and the Kruskal-Wallis H test. RESULTS: We collected a total of 2114 surveys from 1973 unique participants, 949 controls and 994 who identified as equity-deserving. Members of EDGs were more likely to attribute negative feelings to their ED experience (p < 0.001), to indicate that their identity impacted the care received (p < 0.001), and that they felt disrespected and/or judged while in the ED (p < 0.001). Members of EDGs were also more likely to indicate that they had little control over healthcare decisions (p < 0.001) and that it was more important to be treated with kindness/respect than to receive the best possible care (p < 0.001). CONCLUSION: Members of EDGs were more likely to report negative ED care experiences. Equity-deserving individuals felt judged and disrespected by ED staff and felt disempowered to make decisions about their care. Next steps will include contextualizing findings using participants' qualitative data and identifying how to improve ED care experiences among EDGs to make it more inclusive and better able to meet their healthcare needs.


Assuntos
Serviços Médicos de Emergência , Pessoas Mal Alojadas , Humanos , Estudos Transversais , Serviço Hospitalar de Emergência , Atenção à Saúde
3.
CJEM ; 24(6): 585-598, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-36087242

RESUMO

BACKGROUND: Professional culture is a powerful influence in emergency departments, but incompletely understood. Disasters magnify cultural realities, and as such the COVID-19 pandemic offered a unique opportunity to better understand emergency medicine (EM) values, practices, and beliefs. METHODS: We conducted a collaborative ethnography at a tertiary care center during the acute phase of the response to the threat of COVID-19 (March-May 2020). Collaborative ethnography is a method that partners directly with communities during design, data gathering, and analysis to study culture. An ED-based research team gathered data including field notes from 300 h of participant observation and informal interviews, 42 semi-structured interviews, and 57 departmental documents. Data were deductively coded using a previously generated framework for understanding EM culture. RESULTS: Each of seven core values from the original framework were identified in the dataset and further contextualized understanding of EM culture. COVID-19 exacerbated pre-existing tensions and threats to the core values of EM. For example, the desire to provide patient-centered care was impeded by strict visitor restrictions; the ability to treat life-threatening illness was impaired by new resuscitation room layouts and infection control procedures; and subtle changes in protocols had downstream impact on flow and the ability to balance needs and resources at a system level. The cultural values related to teams were protective and strengthened during this time. The pandemic exposed problems with the status quo, underscored inherent tensions between ED values, and highlighted threats to self-identity. CONCLUSION: COVID-19 has highlighted and compounded existing tensions and threats to the core values of EM, underscoring a critical mismatch between values and practice. Realignment of the realities of ED work with staff values is urgently needed.


RéSUMé: CONTEXTE: La culture professionnelle est une influence puissante dans les services d'urgence, mais elle est incomplètement comprise. Les catastrophes amplifient les réalités culturelles et, à ce titre, la pandémie de COVID-19 a offert une occasion unique de mieux comprendre les valeurs, les pratiques et les croyances de la médecine d'urgence (MU). MéTHODES: Nous avons mené une ethnographie collaborative dans un centre de soins tertiaires pendant la phase aiguë de la réponse à la menace du COVID-19 (mars-mai 2020). L'ethnographie collaborative est une méthode qui s'associe directement aux communautés pendant la conception, la collecte de données et l'analyse pour étudier la culture. Une équipe de recherche basée à l'urgence a recueilli des données, y compris des notes de terrain tirées de 300 heures d'observation des participants et d'entrevues informelles, de 42 entrevues semi-structurées et de 57 documents ministériels. Les données ont été codées de manière déductive à l'aide d'un cadre précédemment créé pour comprendre la culture de la MU. RéSULTATS: Chacune des sept valeurs fondamentales du cadre original a été identifiée dans l'ensemble de données et a permis de mieux comprendre la culture de la MU. COVID-19 a exacerbé les tensions préexistantes et les menaces qui pèsent sur les valeurs fondamentales de la MU. Par exemple, le désir de fournir des soins centrés sur le patient a été entravé par des restrictions strictes concernant les visiteurs ; la capacité de traiter des maladies potentiellement mortelles a été compromise par les nouvelles dispositions des salles de réanimation et des procédures de contrôle des infections ; et des changements subtils dans les protocoles ont eu un impact en aval sur le flux et la capacité à équilibrer les besoins et les ressources au niveau du système. Les valeurs culturelles liées aux équipes étaient protectrices et renforcées pendant cette période. La pandémie a mis en évidence les problèmes liés au statu quo, souligné les tensions inhérentes entre les valeurs des services d'urgence et mis en évidence les menaces pour l'identité personnelle. CONCLUSION: COVID-19 a mis en évidence et aggravé les tensions et les menaces existantes pour les valeurs fondamentales de la MU, soulignant un décalage critique entre les valeurs et la pratique. Il est urgent de réaligner les réalités du travail dans les services d'urgence sur les valeurs du personnel.


Assuntos
COVID-19 , Medicina de Emergência , COVID-19/epidemiologia , Serviço Hospitalar de Emergência , Humanos , Pandemias , Centros de Atenção Terciária
5.
CJEM ; 23(3): 303-309, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33559866

RESUMO

OBJECTIVES: While quality improvement (QI) and clinical research embody two distinct scientific approaches, they have the same ultimate goal-to improve health and patient care outcomes. By leveraging their respective strengths there is a higher likelihood of achieving and sustaining health improvements. Our objective was to create recommendations to enhance the collaboration of the Canadian emergency medicine QI and clinical research communities. METHODS: An expert panel of eight ED clinicians with diverse QI and clinical research expertise drafted a list of recommendations based on their professional expertise and a scoping review of the literature. These recommendations were refined through consultation with national stakeholders and reviewed at the 2020 CAEP Virtual Academic Symposium, where feedback was received through several virtual platforms. RESULTS: The final six recommendations include that all emergency medicine providers should: (1) understand the role and application of both clinical research and QI science; that academic emergency medicine physicians should: (2) contribute to both local adoption and broad dissemination of project findings, (3) leverage QI methodologies in research projects to improve knowledge translation, and (4) ensure that project outcomes prioritize patient care; and that academic leaders should: (5) enhance the infrastructure for oversight of research and QI projects, and (6) encourage collaboration between researchers and QI experts by ensuring that academic and operational infrastructures align and support both. CONCLUSION: Six recommendations are presented to help the Canadian emergency medicine community achieve greater collaboration between researchers and QI experts with the ultimate goal of improving patient care outcomes.


RéSUMé: OBJECTIFS: Bien que l'amélioration de la qualité (AQ) et la recherche clinique représentent deux approches scientifiques distinctes, elles ont le même but ultime: améliorer la santé et les résultats des soins aux patients. En tirant profit de leurs atouts respectifs, les chances d'obtenir et de soutenir des améliorations de santé sont plus élevées. Notre objectif était de créer des recommandations pour renforcer la collaboration entre les communautés d'AQ et de recherche clinique en médecine d'urgence canadienne. MéTHODES: Un groupe d'experts de huit cliniciens des services d'urgence dotés d'une expertise diversifiée en matière d'AQ et de recherche clinique a rédigé une liste de recommandations basées sur leur expertise professionnelle et un examen de la revue de littérature. Ces recommandations ont été affinées en consultation avec les parties prenantes nationales et examinées lors du Symposium académique virtuel de ACMU 2020, où des commentaires ont été reçus via plusieurs plateformes virtuelles. RéSULTATS: Les six recommandations finales incluent que tous les prestataires des services de médecine d'urgence devraient: (1) comprendre le rôle et l'application de la recherche clinique et de la science de l'AQ; que les médecins universitaires en médecine d'urgence devraient: (2) contribuer à la fois à l'adoption locale et à la diffusion large des résultats de projets, (3) tirer parti des méthodologies d'AQ dans les projets de recherche afin d'améliorer l'application des connaissances, et (4) veiller à ce que les résultats de projet donnent la priorité aux soins aux patients; et que les dirigeants universitaires devraient: (5) améliorer l'infrastructure de surveillance des projets de recherche et d'AQ, et (6) encourager la collaboration entre les chercheurs et les experts en AQ en assurant que les infrastructures universitaires et opérationnelles les alignent et les soutiennent. CONCLUSION: Six recommandations sont présentées pour aider la communauté de la médecine d'urgence canadienne à parvenir à une plus grande collaboration entre les chercheurs et les experts en AQ dans le but ultime d'améliorer les résultats des soins aux patients.


Assuntos
Medicina de Emergência , Melhoria de Qualidade , Canadá , Emergências , Serviço Hospitalar de Emergência , Humanos
6.
BMJ Simul Technol Enhanc Learn ; 7(2): 102-107, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35520384

RESUMO

Objectives: To describe the association between participant profession and the number and type of latent safety threats (LSTs) identified during in situ simulation (ISS). Secondary objectives were to describe the association between both (a) participants' years of experience and LST identification and (b) type of scenario and number of identified LSTs. Methods: Emergency staff physicians (MDs), registered nurses (RNs) and respiratory therapists (RTs) participated in ISS sessions in the emergency department (ED) of a tertiary care teaching hospital. Adult and paediatric scenarios were designed to be high-acuity, low-occurrence resuscitation cases. Simulations were 10 min in duration. A written survey was administered to participants immediately postsimulation, collecting demographic data and perceived LSTs. Survey data was collated and LSTs were grouped using a previously described framework. Results: Thirteen simulation sessions were completed from July to November 2018, with 59 participants (12 MDs, 41 RNs, 6 RTs). Twenty-four unique LSTs were identified from survey data. RNs identified a median of 2 (IQR 1, 2.5) LSTs, significantly more than RTs (0.5 (IQR 0, 1.25), p=0.04). Within respective professions, MDs and RTs most commonly identified equipment issues, and RNs most commonly identified medication issues. Participants with ≤10 years of experience identified a median of 2 (IQR 1, 3) LSTs versus 1 (IQR 1, 2) LST in those with >10 years of experience (p=0.06). Adult and paediatric patient scenarios were associated with the identification of a median of 4 (IQR 3.0, 4.0) and 5 LSTs (IQR 3.5, 6.5), respectively (p=0.15). Conclusions: Inclusion of a multidisciplinary team is important during ISS in order to gain a breadth of perspectives for the identification of LSTs. In our study, participants with ≤10 years of experience and simulations with paediatric scenarios were associated with a higher number of identified LSTs; however, the difference was not statistically significant.

7.
J Intensive Care Med ; 36(12): 1450-1457, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32954939

RESUMO

OBJECTIVE: Evidence-based guidelines recommend promoting sleep in the Intensive Care Unit (ICU), yet many patients experience poor sleep quality. We sought to engage allied health staff and patient families to determine barriers to sleep promotion, to measure sleep quality for ICU patients, and to evaluate the improvement in sleep quality after implementation of nursing morning report protocol and a doorway poster. DESIGN: The study followed an interrupted time-series framework of quality improvement. Qualitative diagnostics included focus groups and interviews with patients, families, and allied health care workers, analyzed by qualitative descriptive analysis. Quantitative diagnostics included direct observation of nurses and patients overnight. Analysis of primary outcome data used statistical process control methodology. PATIENTS: Patients included were >18 years old, admitted overnight to a Canadian tertiary academic ICU, with a Richards Agitation Sedation Scale (RASS) ≥-2. INTERVENTIONS: Sleep quality was measured using the Richards Campbell Sleep Questionnaire (RCSQ). Two interventions were developed: sleep quality in morning nursing report, and a doorway poster. MAIN RESULTS: A total of 2332 patient nights across 7 consecutive months were included for analysis. Baseline sleep in the ICU was poor (mean RCSQ 53.7/100). Root cause-analysis identified the most prominent sleep barriers as nurse stigma associated with less active management of patients and lack of physician engagement. No significant improvement occurred over the sleep quality improvement initiative (mean RCSQ 59.5/100). Sleep quality was better among non-delirious patients compared with delirious patients (mean RCSQ 62.7 vs 53.3). CONCLUSION: The intervention of a nursing morning report protocol and sleep posters did not improve the quality of ICU patient sleep in this study. Structured interviews revealed potential sleep barriers to be addressed such as nursing stigma and inappropriate awakenings. Nursing stigma has not been previously linked to sleep quality.


Assuntos
Unidades de Terapia Intensiva , Melhoria de Qualidade , Adolescente , Canadá , Medicina Baseada em Evidências , Humanos , Sono , Inquéritos e Questionários
8.
J Ultrasound Med ; 40(9): 1803-1809, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33169875

RESUMO

OBJECTIVES: Point-of-care ultrasound (POCUS) is a widely used diagnostic modality in the emergency physician's tool kit. The effect on health care costs is disputed. This study examined whether POCUS was associated with system-level cost savings. Secondary objectives included adverse patient outcomes and the association between POCUS use and diagnostic costs in specific patient groups. METHODS: The Point-of-Care Ultrasound Use and Monetary Outcomes study was a single-center prospective observational study. A convenience sample of emergency medicine physicians working from July to October 2019 were included after using POCUS as part of their assessment. The cost of patient investigations was compared with those proposed by a control group of physicians simultaneously on shift, who were blinded to the POCUS findings. Ethical approval was obtained from the Queen's University Health Sciences Research Ethics Board. RESULTS: Fifty patient assessments using POCUS were included. Overall, the median investigation cost in United States dollars in the POCUS group was $102.00 (interquartile range [IQR], $39.80-$167.90) versus $122.40 (IQR, $70.96-$175.60) in controls (P = .08). When stratified by disposition, POCUS use in patients discharged home resulted in a median expenditure of $71.80 (IQR, $36.48-$116.70) versus $122.70 (IQR, $71.18-$183.20; P < .001). Significant cost savings were also found in flank pain presentations (median, $138.90; IQR, $136.60-$186.10; P = .01). There were no differences in the quantity of investigations ordered, the patient emergency department repeated presentation rate, or safety outcomes at 7 days. CONCLUSIONS: Point-of-care ultrasound use was not associated with significant cost savings in our overall population. The subgroup analysis revealed significant POCUS-associated cost savings in patients discharged home and those presenting with flank pain. Notably, POCUS was not associated with an increase in adverse patient safety outcomes.


Assuntos
Sistemas Automatizados de Assistência Junto ao Leito , Testes Imediatos , Atenção à Saúde , Serviço Hospitalar de Emergência , Humanos , Estudos Prospectivos , Ultrassonografia
9.
Cureus ; 12(8): e9560, 2020 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-32905552

RESUMO

INTRODUCTION: Patient-centered care is a core principle of the Canadian healthcare system. In order to facilitate patient-centered care, the documentation of a patient's medical goals and expectations is important, especially in the event of acute decompensation when an informed conversation with the patient may not be possible. The 'Goals of Care Discussion Form (GCF)' at Kingston Health Sciences Centre (KHSC) documents goals of care discussions between patients and healthcare providers. All patients admitted to the Internal Medicine service are expected to have this form completed within 24 hours of admission. Formal measurement of form completion at our center has not previously been done, though anecdotally this form is often incomplete. The purpose of this study is to quantify the rate of completion and assess quality of documentation of the GCF at KHSC. METHODS: This prospective chart review took place between August 25, 2018, and March 25, 2019. Charts were reviewed for the presence of a completed GCF, and the quality of notation was assessed, as appropriate. Given there are no existing tools for assessing the quality of a document such as the GCF, authors TC and JM created one de novo for this study. Extracted data included the amount of time elapsed between admission and completion of the GCF, whether the 'yes/no cardiopulmonary resuscitation (CPR)' order in the patient's chart aligned with their wishes as outlined on the GCF, and whether or not a patient's GCF was uploaded to the hospital's electronic medical record (EMR). RESULTS:  Two hundred sixteen charts were reviewed. Of these, 136 (63.0%) had a complete GCF. The mean GCF quality score was 3.4/7 (95% CI [3.2, 3.6]). The mean time elapsed from admission to the completion of the GCF was 1.5 days (95% CI [0.6, 2.4]). There were 130 charts with both a complete GCF and a 'yes/no CPR' order, and of these, 20 (15.4%) showed a discrepancy. Eighty-six (63.2%) of the completed GCFs were uploaded to the EMR. DISCUSSION AND CONCLUSIONS:  The rate of GCF completion at KHSC is noticeably higher than expected based on the previous literature. However, our assessment of the quality of completion indicates that there is room for improvement. Most concerning, discrepancies were found between the 'yes/no CPR' order in a patient's chart and their stated wishes on the GCF. Furthermore, less than two-thirds of completed GCFs were found to have been uploaded to the hospital's EMR. Given the emphasis on patient-centered care in the Canadian healthcare system, our findings suggest that improvement initiatives are needed with respect to documenting goals of care discussions with patients.

10.
Orphanet J Rare Dis ; 7: 67, 2012 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-22986007

RESUMO

BACKGROUND: Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in one large Australian family and this locus was designated spinocerebellar ataxia type 29. The objective of this study is to describe an unreported Canadian family with autosomal dominant congenital nonprogressive spinocerebellar ataxia and to identify the underlying genetic causes in this family and the original Australian family. METHODS AND RESULTS: Exome sequencing was performed for the Australian family, resulting in the identification of a heterozygous mutation in the ITPR1 gene. For the Canadian family, genotyping with microsatellite markers and Sanger sequencing of ITPR1 gene were performed; a heterozygous missense mutation in ITPR1 was identified. CONCLUSIONS: ITPR1 encodes inositol 1,4,5-trisphosphate receptor, type 1, a ligand-gated ion channel that mediates calcium release from the endoplasmic reticulum. Deletions of ITPR1 are known to cause spinocerebellar ataxia type 15, a distinct and very slowly progressive form of cerebellar ataxia with onset in adulthood. Our study demonstrates for the first time that, in addition to spinocerebellar ataxia type 15, alteration of ITPR1 function can cause a distinct congenital nonprogressive ataxia; highlighting important clinical heterogeneity associated with the ITPR1 gene and a significant role of the ITPR1-related pathway in the development and maintenance of the normal functions of the cerebellum.


Assuntos
Receptores de Inositol 1,4,5-Trifosfato/genética , Mutação de Sentido Incorreto/genética , Ataxias Espinocerebelares/genética , Feminino , Genótipo , Humanos , Masculino , Linhagem
11.
Am J Med Genet A ; 158A(6): 1262-8, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22581752

RESUMO

Pericentric chromosome inversions are often associated with infertility, recurrent pregnancy loss, and an increased risk for offspring with congenital anomalies. We report on a chromosome 1 inversion between 1p36.21 and 1q42.13, one of the largest described familial pericentric inversions of chromosome 1. The inversion was ascertained following the birth of a female with multiple congenital anomalies due to a recombinant chromosome 1. The inversion was subsequently detected or inferred in 16 healthy individuals over five generations. Interestingly, with a ratio of 16 carriers to 6 noncarriers, there appears to be transmission distortion of the inverted chromosome 1 within the family. Although there is no reported difficulty conceiving in the family, the risk of miscarriage is higher than predicted at 34% (13/38). The recurrence risk of a recombinant chromosome also appears to be lower than expected based on the mode of ascertainment. This case contributes to the spectrum of clinical features of chromosome 1 recombinants and raises the question of whether or not there is a selective advantage of the inverted chromosome at meiosis, conception, or post-zygotically that has contributed to transmission distortion of the inverted chromosome.


Assuntos
Anormalidades Múltiplas/genética , Inversão Cromossômica , Linhagem , Anormalidades Múltiplas/diagnóstico , Adulto , Autopsia , Bandeamento Cromossômico , Mapeamento Cromossômico , Cromossomos Humanos Par 1 , Evolução Fatal , Feminino , Humanos , Recém-Nascido
12.
Am J Hum Genet ; 90(2): 369-77, 2012 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-22305528

RESUMO

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EFTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the first multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.


Assuntos
GTP Fosfo-Hidrolases/genética , Haploinsuficiência/genética , Disostose Mandibulofacial/genética , Microcefalia/genética , Ribonucleoproteína Nuclear Pequena U5/genética , Anormalidades Múltiplas/genética , Alelos , Sequência de Aminoácidos , Criança , Pré-Escolar , Estudos de Coortes , Exoma , Feminino , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Mutação/genética , Estrutura Terciária de Proteína/genética , Splicing de RNA/genética , Spliceossomos/genética
13.
Am J Hum Genet ; 89(6): 713-30, 2011 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-22152675

RESUMO

Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises from disrupting common functional module components within primary cilia. To identify additional module elements associated with JSRDs, we performed homozygosity mapping followed by next-generation sequencing (NGS) and uncovered mutations in TMEM237 (previously known as ALS2CR4). We show that loss of the mammalian TMEM237, which localizes to the ciliary transition zone (TZ), results in defective ciliogenesis and deregulation of Wnt signaling. Furthermore, disruption of Danio rerio (zebrafish) tmem237 expression produces gastrulation defects consistent with ciliary dysfunction, and Caenorhabditis elegans jbts-14 genetically interacts with nphp-4, encoding another TZ protein, to control basal body-TZ anchoring to the membrane and ciliogenesis. Both mammalian and C. elegans TMEM237/JBTS-14 require RPGRIP1L/MKS5 for proper TZ localization, and we demonstrate additional functional interactions between C. elegans JBTS-14 and MKS-2/TMEM216, MKSR-1/B9D1, and MKSR-2/B9D2. Collectively, our findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes.


Assuntos
Doenças Cerebelares/genética , Cílios/genética , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Proteínas de Membrana/genética , Mutação , Anormalidades Múltiplas , Adulto , Animais , Síndrome de Bardet-Biedl/genética , Caenorhabditis elegans/genética , Caenorhabditis elegans/ultraestrutura , Estudos de Casos e Controles , Linhagem Celular , Cerebelo/anormalidades , Criança , Pré-Escolar , Mapeamento Cromossômico , Cílios/metabolismo , Feminino , Expressão Gênica , Técnicas de Silenciamento de Genes , Técnicas de Inativação de Genes , Estudos de Associação Genética , Haplótipos , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas de Membrana/metabolismo , Camundongos , Microscopia Eletrônica de Transmissão , Complexos Multiproteicos/metabolismo , Polimorfismo de Nucleotídeo Único , Retina/anormalidades , Análise de Sequência de DNA , Proteínas Wnt/metabolismo , Via de Sinalização Wnt , Peixe-Zebra/embriologia , Peixe-Zebra/genética
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