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1.
Ann Plast Surg ; 92(4S Suppl 2): S298-S304, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38556693

RESUMO

BACKGROUND: Presentations are an important means of knowledge generation. Publication of these studies is important for dissemination of findings beyond meeting attendees. We analyzed a 10-year sample of presented abstracts at Plastic Surgery The Meeting and describe factors that improve rate and speed of conversion to peer-reviewed publication. METHODS: Abstracts presented between 2010 and 2019 at Plastic Surgery The Meeting were sourced from the American Society of Plastic Surgery Abstract Archive. A random sample of 100 abstracts from each year was evaluated. Abstract information and demographics were recorded. The title or author and keywords of each abstract were searched using a standardized workflow to find a corresponding published paper on PubMed, Google Scholar, and Google. Data were analyzed for trends and factors affecting conversion rate. RESULTS: A total of 983 presented abstracts were included. The conversion rate was 54.1%. Residents and fellows constituted the largest proportion of presenters (38.4%). There was a significant increase in medical student and research fellow presenters during the study period (P < 0.001). Conversion rate was not affected by the research rank of a presenter's affiliated institution (ß = 1.001, P = 0.89), geographic location (P = 0.60), or subspecialty tract (P = 0.73). US academics had a higher conversion rate (61.8%) than US nonacademics (32.7%) or international presenters (47.1%) (P < 0.001). Medical students had the highest conversion rate (65.6%); attendings had the lowest (45.0%). Research fellows had the lowest average time to publication (11.6 months, P = 0.007). CONCLUSIONS: Lower levels of training, factors associated with increased institution-level support, and research quality affect rate and time to publication. These findings highlight the success of current models featuring medical student and research fellow-led projects with strong resident and faculty mentorship.


Assuntos
Procedimentos de Cirurgia Plástica , Cirurgia Plástica , Humanos , Revisão por Pares , Sociedades Médicas
2.
J Hand Surg Am ; 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38043033

RESUMO

PURPOSE: The requirement for anatomic venous reconstruction in digit replantation is an ongoing area of research. In this study, we evaluated our institutional experience to study whether replantation success is affected by the presence or absence of vein repair, stratified by the level of injury. METHODS: A retrospective review was performed at an urban, level-1 trauma center of all single-digit replantations performed in adults from 2012 to 2021. Patient demographics, injury mechanism, level of injury, whether a vein was repaired, and replant survival were recorded. RESULTS: Sixty-seven single replanted digits were included. Patients were, on average, 38 years old, and 94% were men. The most common mechanism of injury was a sharp laceration (81%). The overall survival rates for all replantations were 68.7% (46/67) and 60% (12/20) for distal finger replantation. Patients with digital replantations at Tamai zone III or more proximal exhibited a 1.8 times increase in survival rates when one vein was repaired versus zero veins (84.4% vs 46.7%). Patients with digital replantations at Tamai zones I and II exhibited similar survival rates. CONCLUSIONS: Replantations at or proximal to the middle phalanx should be repaired with at least one artery and vein to maximize the chance for success. However, for distal finger replantations, artery-only replantation is a viable option when vein anastomosis is not achievable. TYPO OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

3.
Emerg Med J ; 40(8): 564-568, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37220958

RESUMO

BACKGROUND: microMend, a novel microstaple skin closure device, may be able to close simple lacerations. This study aimed to evaluate the feasibility and acceptability of using microMend to close these wounds in the ED. METHODS: This was an open-label, single-arm clinical study conducted at two EDs within a large urban academic medical centre. Wounds closed with microMend underwent assessments performed at days 0, 7, 30 and 90. Photographs of treated wounds were rated by two plastic surgeons using a 100 mm visual analogue scale (VAS) and a wound evaluation scale (WES), which has a best possible score of 6. Participants rated pain during application and both participants and providers rated their satisfaction with the device. RESULTS: Thirty-one participants were enrolled in the study: 48% were female and the mean age of participants was 45.6 (95% CI 39.1 to 52.1). The mean wound length was 2.35 cm (95% CI 1.77 to 2.92), with a range of 1-10 cm. Mean VAS and WES scores at day 90 as evaluated by two plastic surgeons were 84.1 mm (95% CI 80.2 to 87.9) and 4.91 (95% CI 4.54 to 5.29), respectively. The mean pain score with application of the devices was 7.28 mm (95% CI 2.88 to 11.68) on a scale of 0-100 mm using VAS. Local anaesthesia was used in 9 patients (29%, 95% CI 20.7 to 37.3) of participants (of whom 5 required deep sutures). Ninety per cent (90%) of participants rated their overall assessment of the device as excellent (74%) or good (16%) at day 90. There were no serious adverse events in any participants in the study. CONCLUSION: microMend appears to be an acceptable alternative for closing skin lacerations in the ED, providing good cosmetic results, with high levels of satisfaction by patients and providers. Randomised trials are needed to compare microMend with other wound closure products. TRIAL REGISTRATION NUMBER: NCT03830515.


Assuntos
Lacerações , Lesões dos Tecidos Moles , Feminino , Humanos , Masculino , Lacerações/terapia , Dor , Medição da Dor , Suturas
4.
Ann Plast Surg ; 88(3 Suppl 3): S209-S213, 2022 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-35513322

RESUMO

PURPOSE: Nail bed injuries are commonly treated with nail plate removal and repair due to concern for future nail deformity. There is controversy whether this is necessary. We compared the outcomes for adult patients with simple nail bed lacerations who underwent either formal nail bed repair or nonoperative management. METHODS: A retrospective cohort study was performed of adult patients with nail bed lacerations from 2012 to 2019. Nail bed lacerations were diagnosed in patients with fingertip injuries resulting in subungual hematoma greater than 50% or in any subungual hematoma in the setting of a distal phalanx fracture. All patients included had an intact nail plate. Patients were treated with nail bed laceration repair or nonoperatively without nail plate removal. The primary outcome was the development of a nail deformity. Secondary outcomes included infection, fracture nonunion, and patient-reported functional outcomes using the quick Disabilities of the Arm, Shoulder and Hand score. RESULTS: Thirty-eight patients with nail bed lacerations were treated nonoperatively, and 40 patients were treated with nail bed repair. The average follow-up time was 4.5 weeks in the office. In addition, 1-year evaluation of patients was performed through telephone interview. The patients in the nonoperative group exhibited no statistically significant difference in the calculated risk for nail deformities compared with the nail bed repair group (13% vs 23%, relative risk = 0.58, P = 0.40, 95% confidence interval = 0.42-1.25). There were no significant differences in secondary outcomes or quick Disabilities of the Arm, Shoulder and Hand scores between groups. CONCLUSIONS: The authors observed no meaningful difference in the rate of nail deformities in adult patients who underwent nail bed repair compared with those managed nonoperatively.


Assuntos
Lacerações , Doenças da Unha , Adulto , Hematoma , Humanos , Doenças da Unha/cirurgia , Unhas/cirurgia , Estudos Retrospectivos
6.
J Hand Surg Am ; 42(9): 756.e1-756.e5, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28549894

RESUMO

In this case report, we present a 3-year-old boy with a diagnosis of dermatofibrosarcoma protuberans (DFSP) on the dorsum of his right hand. Although rarely metastatic, DFSP is highly locally invasive and can cause considerable local morbidity. In the hand, DFSP is uncommon in the young pediatric patient. In our patient, the tumor extended down to the second and third metacarpal heads and was treated with a multistaged excision of his tumor to achieve negative margins under slow Mohs micrographic surgery.


Assuntos
Dermatofibrossarcoma/cirurgia , Cirurgia de Mohs , Neoplasias Cutâneas/cirurgia , Pré-Escolar , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/patologia , Mãos , Humanos , Masculino , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia
7.
J Surg Case Rep ; 2024(3): rjae123, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38463740

RESUMO

Diabetic cheiroarthropathy (DCA) is a relatively uncommon and underdiagnosed complication of poorly controlled diabetes. It is caused by non-enzymatic glycation of collagen that ultimately leads to microvascular damage and polyarticular stiffness. If diagnosed early, optimal management of serum glucose levels may lessen joint stiffness and prevent microvascular and macrovascular complications associated with diabetes mellitus. We review the case of a 55-year-old male with type 2 diabetes mellitus who was diagnosed with DCA after complaints of chronic joint stiffness and immobility.

8.
BMJ Open ; 14(8): e086394, 2024 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-39153779

RESUMO

INTRODUCTION: Chronic respiratory morbidity from bronchopulmonary dysplasia (BPD) remains the most common complication of preterm birth and has consequences for later respiratory, cardiovascular and neurodevelopmental outcomes. The early phases of respiratory illness are characterised by rapid consumption of endogenous surfactant and slow replenishment. Exogenous surfactant is routinely administered to infants born before 28 weeks of gestation as prophylaxis. Endogenous surfactant includes four proteins, known as surfactant proteins (SPs) A, B, C and D. Current bovine-derived and porcine-derived surfactant preparations only contain SPs B and C. SP-D has a key role in lung immune homeostasis as part of the innate immune system. Laboratory studies using recombinant SP-D have demonstrated reduced inflammation, which may be a pathway to reducing the associated morbidity from BPD. RESPONSE uses a recombinant fragment of human SP D (rfhSP-D), in a phase I safety and dose-escalation trial as the first stage in determining its effect in humans. METHODS AND ANALYSIS: This is a single-centre, dose-escalation, phase I safety study aiming to recruit 24 infants born before 30 weeks gestation with respiratory distress syndrome. In addition to routine surfactant replacement therapy, participants will receive three doses of rfhSP-D via endotracheal route at either 1 mg/kg, 2 mg/kg or 4 mg/kg. The study uses a Bayesian continual reassessment method to make dose escalation decisions. Dose-limiting events (DLE) in this trial will be graded according to the published Neonatal Adverse Event Severity Score. The primary outcome of this study is to evaluate the safety profile of rfhSP-D across each dose level based on the profile of DLE to establish the recommended phase 2 dose (RP2D) of rfhSP-D. ETHICS AND DISSEMINATION: The RESPONSE study has received ethical approval from London-Brent NHS Research Health Authority ethics committee. Results from the study will be published in peer-reviewed journals and presented at national and international conferences. TRIAL REGISTRATION NUMBERS: ISRCTN17083028, NCT05898633. PROTOCOL VERSION: RESPONSE Protocol V.4.0 24th July 2024.


Assuntos
Proteína D Associada a Surfactante Pulmonar , Proteínas Recombinantes , Síndrome do Desconforto Respiratório do Recém-Nascido , Humanos , Recém-Nascido , Síndrome do Desconforto Respiratório do Recém-Nascido/prevenção & controle , Proteínas Recombinantes/administração & dosagem , Recém-Nascido Prematuro , Displasia Broncopulmonar/prevenção & controle , Ensaios Clínicos Fase I como Assunto , Feminino , Masculino
9.
Plast Reconstr Surg Glob Open ; 12(9): e6125, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39228417

RESUMO

Background: Flexor tendon repair is a technically demanding procedure, with functional outcome directly proportional to skillful execution. A repair must be strong to manage early mobilization and precise to allow for gliding through the tendon sheath. As a result, junior residents face a steep learning curve that may be mitigated by exposure to surgical simulators. Methods: To facilitate flexor tendon repair training, a surgical training device and accompanying instructional video were developed. Simulation workshops were held for junior orthopedic and plastic surgery residents (n = 11). To objectively assess validity of the curriculum, study participants performed cadaveric flexor tendon repairs before and after the workshop. Anonymous recordings of these repairs were graded by two certified hand surgeons. Additionally, a tensometer was used to measure strength of repair. Results: Model realism, educational utility, and overall usefulness rated high: 4.6 ±â€…0.52 95% confidence interval (CI) for realism, 4.9 ±â€…0.42 95% CI for device, 4.7 ±â€…0.96 95% CI for video, and 4.9 ±â€…0.66 95% CI overall. Subjective confidence increased after the training session (73% ranked "moderately" or "extremely"). Likewise, scores given by the surgeons grading the repairs improved for overall quality and time of repair (pre: 2.77 ±â€…0.61, post: 4.22 ±â€…0.56, P= 0.0002). Strength of repair did not change (P = 0.87). Conclusions: The proposed three-dimensional surgical simulator for flexor tendon repair is realistic and useful, with improved surgical technique and improved confidence demonstrated after use. This design can be three-dimensionally printed en masse and provide value to hand surgery training curriculum.

10.
Plast Reconstr Surg Glob Open ; 12(2): e5595, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38322810

RESUMO

Although research and innovation is a key within the field of plastic and reconstructive surgery, the impact of team structure, interpersonal dynamics, and/or standardized infrastructure on scholarly output has been infrequently studied. In this work, we present the formation and implementation of a novel plastic surgery research program that aims to unite previously disparate clinical and translational research efforts at our institution to facilitate critical inquiry. From July 2022 to June 2023, our department launched a pilot research program based on three pillars: (1) formalization of a research curriculum (monthly research meetings for agenda setting and discussion for project honing, formal research leadership for meeting facilitation and workflow regulation), (2) development of a centralized database to compile ongoing research (Google Drive repository to house all ongoing research documents, facilitate real-time editing, and provide resources/templates for assisting in the research process), and (3) bolstering of a core research identity built on mentorship and collaboration (more frequent interactions to shift previously siloed faculty-student mentorship into a robust milieu of intercollaboration). During the first year, we saw an increased number of publications and presentations, as well as robust participation and contribution from faculty, residents, and medical students. Future directions will focus on addressing resource limitation, such as project idea availability and funding, to sustain the success and growth of this novel research infrastructure.

11.
Ann Plast Surg ; 71(1): 37-9, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23353832

RESUMO

PURPOSE: The pedicled reverse-flow lateral arm flap has been described primarily for the reconstruction of nontraumatic elbow wounds. We describe our experience using this flap in staged operations for soft tissue coverage after elbow trauma, including acute coverage of open fractures and salvage of infected hardware. METHODS: Review of patients who underwent staged pedicled reverse-flow lateral arm flap transfer for coverage of traumatic elbow defects. RESULTS: Three patients were identified; all underwent 2-stage repair with flap delay for coverage of traumatic elbow injuries. Each patient had stable wound coverage with this flap. The only complication was 5% distal flap necrosis in 1 patient. CONCLUSIONS: The pedicled reverse-flow lateral arm flap provides reliable soft tissue coverage of traumatic elbow defects with minimal donor-site morbidity.


Assuntos
Lesões no Cotovelo , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Adulto , Idoso de 80 Anos ou mais , Circulação Colateral , Articulação do Cotovelo/irrigação sanguínea , Feminino , Fraturas Ósseas , Humanos , Masculino , Estudos Retrospectivos , Lesões dos Tecidos Moles/cirurgia
12.
Hand Clin ; 39(3): 465-473, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37453773

RESUMO

Infections of the upper extremity can be challenging to diagnose and treat because of the complex anatomy and range of offending pathogens. Early recognition of infections that require an emergent surgical intervention, such as necrotizing fasciitis and septic joints, is imperative for good clinical outcomes. In addition, prompt diagnosis and intervention for deep closed space infections, such as deep abscesses or flexor tenosynovitis, is necessary to avoid chronic pain and dysfunction. Complicating factors such as underlying osteomyelitis, atypical pathogens, and immunocompromised states of patients should always be considered when treating upper-extremity infections.


Assuntos
Artrite Infecciosa , Fasciite Necrosante , Cirurgiões , Humanos , Mãos/cirurgia , Extremidade Superior , Fasciite Necrosante/diagnóstico , Fasciite Necrosante/cirurgia , Artrite Infecciosa/diagnóstico
13.
Hand (N Y) ; 18(2): 320-327, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-33880957

RESUMO

BACKGROUND: Pyogenic flexor tenosynovitis (PFT) has been considered a surgical emergency. Varying operative approaches have been described, but there are limited data on the method, safety, and efficacy of nonoperative or bedside management. We present a case series where patients with early flexor tenosynovitis are managed using a limited flexor sheath incision and drainage (I&D) in the emergency department (ED) to both confirm purulence within the flexor sheath and as definitive treatment. METHODS: A retrospective study of all patients clinically diagnosed in the ED with flexor tenosynovitis at our institution from 2012 to 2019 was performed. Patients with frank purulence on examination were taken emergently to the operating room (OR). Patients with equivocal findings underwent limited flexor sheath I&D in the ED. Safety and efficacy were studied for patients with early flexor tenosynovitis managed with this treatment approach. RESULTS: Thirty-four patients met the inclusion criteria. Ten patients underwent direct OR I&D, and 24 patients underwent ED I&D. In the ED I&D group, 96% (24 of 25) of patients did not have frank purulence in the flexor sheath and were managed with bedside drainage alone. There were no procedural complications and no need for repeat operative intervention. Time to intervention (3.1 hours vs 8.4 hours) was significantly shorter for the ED I&D group compared with the OR I&D group. Within the ED I&D group, 86% of patients exhibited good/excellent functional scores. CONCLUSIONS: Limited flexor sheath I&D in the ED provides a potential safe and effective way to manage patients with early flexor tenosynovitis.


Assuntos
Tenossinovite , Humanos , Tenossinovite/cirurgia , Tenossinovite/diagnóstico , Estudos Retrospectivos , Drenagem , Dedos/cirurgia , Irrigação Terapêutica/métodos
14.
J Am Board Fam Med ; 2022 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-36113994

RESUMO

BACKGROUND: Primary care physicians encounter many patients who present with lumps and bumps on their fingers, hands, and wrists. Some benign lesions including ganglion cysts, epidermal inclusion cysts, and giant cell tumors of the tendon sheath that are benign and can be managed by primary care clinicians most of the time in an outpatient setting. METHODS: We conducted a narrative of review of literature on the clinical presentation, diagnosis, prognosis, and management of common types of lumps and bumps found on the fingers, hand, and wrist. CONCLUSIONS: Based on the literature review and our clinical practice, we provide indications for referral to plastic surgeons or other specialists for these lesions.

15.
J Am Board Fam Med ; 35(6): 1194-1203, 2022 12 23.
Artigo em Inglês | MEDLINE | ID: mdl-36564195

RESUMO

BACKGROUND: Primary care physicians encounter many patients who present with lumps and bumps on their fingers, hands, and wrists. Some benign lesions including ganglion cysts, epidermal inclusion cysts, and giant cell tumors of the tendon sheath that are benign and can be managed by primary care clinicians most of the time in an outpatient setting. METHODS: We conducted a narrative of review of literature on the clinical presentation, diagnosis, prognosis, and management of common types of lumps and bumps found on the fingers, hand, and wrist. CONCLUSIONS: Based on the literature review and our clinical practice, we provide indications for referral to plastic surgeons or other specialists for these lesions.


Assuntos
Contratura de Dupuytren , Punho , Humanos , Contratura de Dupuytren/diagnóstico , Contratura de Dupuytren/patologia , Contratura de Dupuytren/cirurgia , Mãos/patologia
16.
BMJ Open Respir Res ; 8(1)2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34521648

RESUMO

Acute respiratory distress syndrome (ARDS) related to SARS-CoV-2 infection has some unusual characteristics that differentiate it from the pathophysiology described in the more 'typical' ARDS. Among multiple hypotheses, a close similarity has been suggested between COVID-19 ARDS and neonatal respiratory distress syndrome (RDS). With this opinion paper, we investigated the pathophysiological similarities between infant respiratory diseases (RDS and direct neonatal ARDS (NARDS)) and COVID-19 in adults. We also analysed, for the first time, similarities in the response to exogenous surfactant administration in terms of improved static compliance in RDS and direct NARDS, and adult COVID-19 ARDS. In conclusion, we believe that if the pathological processes are similar both from the pathophysiological point of view and from the response in respiratory mechanics to a recruitment treatment such as surfactant, perhaps the latter could be considered a plausible option and lead to recruitment in clinical trials currently ongoing on patients with COVID-19.


Assuntos
Tratamento Farmacológico da COVID-19 , COVID-19 , Surfactantes Pulmonares , Síndrome do Desconforto Respiratório do Recém-Nascido , Síndrome do Desconforto Respiratório , Adulto , COVID-19/complicações , Humanos , Recém-Nascido , Surfactantes Pulmonares/uso terapêutico , Síndrome do Desconforto Respiratório/tratamento farmacológico , Síndrome do Desconforto Respiratório do Recém-Nascido/tratamento farmacológico
17.
Ann Biomed Eng ; 49(12): 3666-3675, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34480261

RESUMO

Early in 2020, the pandemic resulted in an enormous demand for personal protective equipment (PPE), which consists of face masks, face shields, respirators, and gowns. At our institution, at the request of hospital administration, the Lifespan 3D Printing Laboratory spearheaded an initiative to produce reusable N95 masks for use in the hospital setting. Through this article, we seek to detail our experience designing and 3D printing an N95 mask, highlighting the most important lessons learned throughout the process. Foremost among these, we were successful in producing a non-commercial N95 alternative mask which could be used in an era when N95 materials were extremely limited in supply. We identified five key lessons related to design software, 3D printed material airtightness, breathability and humidity dispersal, and ability for communication. By sharing our experience and the most valuable lessons we learned through this process, we hope to provide a helpful foundation for future 3D-printed N95 endeavors.


Assuntos
COVID-19/prevenção & controle , Respiradores N95 , Impressão Tridimensional , COVID-19/epidemiologia , Desenho de Equipamento , Humanos , Pandemias
18.
Psychiatry Res ; 178(2): 260-5, 2010 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-20466436

RESUMO

Delusions are fixed 'false beliefs' and, although a hallmark feature of schizophrenia, no previous study has examined if delusions might be related to 'false memories'. We used the classic Deese-Roediger-McDermott (DRM) paradigm to compare false memory production in schizophrenia patients who were currently experiencing delusions (ED), patients not experiencing delusions (ND) and healthy control participants. The ED group recalled twice as many false-positive memories (i.e., memory for words not previously seen) as both the controls and crucially, the ND group. Both patient groups also recognised fewer correct words than the healthy controls and both showed greater confidence in their false memories; however, on the recognition task, the ED group made more false-negative (i.e. rejecting previously seen words) high confidence responses than the ND group.


Assuntos
Delusões/complicações , Transtornos da Memória/etiologia , Esquizofrenia/complicações , Psicologia do Esquizofrênico , Adulto , Análise de Variância , Feminino , Humanos , Masculino , Rememoração Mental/fisiologia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estimulação Luminosa/métodos , Reconhecimento Psicológico/fisiologia
19.
Breathe (Sheff) ; 16(2): 200047, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33304404

RESUMO

Primary ciliary dyskinesia (PCD) is an inherited disorder of clinical and genetic heterogeneity resulting from mutations in genes involved in the transport, assembly and function of motile cilia. The resulting impairment in mucociliary clearance means patients suffer from chronic progressive lung disease, bronchiectasis, rhinosinusitis and middle ear disease. Subfertility is common to both male and female patients. Situs abnormalities occur in around half of patients, with a subgroup suffering more complex situs arrangements where congenital heart defects or other organ abnormalities frequently coexist. Variations from the classical PCD phenotype are increasingly recognised where overlapping features across a range of motile and nonmotile ciliopathies are redefining our approach to both diagnosis and management of these complex conditions. PCD offers an ideal opportunity for direct visualisation of ciliary function and structure, following nasal brush biopsy, allowing opportunities for researchers to directly interrogate the downstream impact of loss of function mutations. In turn, this has led to rapid advances in the development of new diagnostic tests. These advances mean that PCD is an excellent disease model for understanding the genetic and mechanistic causes of the clinical phenotype for all respiratory ciliopathies. Furthermore, the overlapping role of motile ciliary defects in a wider set of complex and syndromic disorders related to loss of function mutations in primary, nonmotile cilia has been recognised. As we better understand the role of ciliary defects in a broad spectrum of diseases, we should aim to map out a framework through which we can identify, diagnose and treat all respiratory ciliopathies. KEY POINTS: Primary ciliary dyskinesia is just one of a group of conditions where a heterogeneous array of genetic mutations affect the assembly or structure of motile cilia.Overlapping phenotypes between motile and nonmotile ciliopathies are redefining the diagnostic and therapeutic approach to encompass all ciliopathy patients with a respiratory phenotype.An extended diagnostic algorithm may be required to capture the majority of cases with a respiratory ciliopathy, including patients with syndromic ciliopathies.The terminology around disorders of motile cilia is becoming more descriptive to better reflect the heterogeneity and underlying disease mechanisms across the spectrum of respiratory ciliopathies. EDUCATIONAL AIMS: To summarise the existing knowledge base around the disease mechanisms for respiratory ciliopathies, including primary ciliary dyskinesia (PCD).To explore and understand the reasons for changing terminology around respiratory ciliopathies.To emphasise key messages around the diagnosis and treatment of all ciliopathies.Diagnosing PCD is complex and time consuming, and there is no single stand-alone test that can confirm or exclude a diagnosis in all cases.

20.
J Hand Microsurg ; 12(Suppl 1): S67-S69, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33335377

RESUMO

Background Eosinophilic polymyositis is a rare disorder in which eosinophils infiltrate muscle and supporting connective tissue structures, resembling autoimmune or immunologically mediated disease. This disorder can be associated with muscle inflammation and death, and can be a cause of atraumatic compartment syndrome. Methods This is a retrospective chart review of a case report as well as review of pertinent literature. Results This report presents a rare case of atraumatic compartment syndrome of the forearm caused by eosinophilic polymyositis. It provides a case summary and histological examination of this patient. Conclusion This is an important case to report because it highlights eosinophilic polymyositis as a unique etiology of compartment syndrome. In appropriate clinical situations where patients do not improve despite standard interventions, one should consider the rare and unusual etiology of compartment syndrome due to eosinophilic polymyositis. Furthermore, primary surgical intervention should not be delayed while waiting to ascertain a definitive diagnosis.

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