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2.
Orphanet J Rare Dis ; 19(1): 59, 2024 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-38341591

RESUMO

BACKGROUND: Gene therapy has the potential to offer people with haemophilia (PwH) a life free from bleeding and the burden posed by current treatment regimens. To date, gene therapy has only been available in clinical trial settings, to PwH without pre-existing or historical factor inhibitors, significant concomitant liver damage or pre-existing neutralising antibodies to the adeno-associated viruses used to deliver the therapy. Thus, most PwH treated at centres not currently involved in gene therapy trials, either as a referral/follow-up centre or as a dosing centre, have been unable to access the therapy. This Exigency sub-study aims to gain a greater understanding of the opinions of PwH in the United Kingdom who have not had access to gene therapy: asking what they understand, what concerns they have, and whether they perceive any barriers preventing their access to gene therapy. RESULTS: Twenty-three PwH were approached; 14 consented, and one withdrew prior to interview. The mean age of the participants was 35.7 years (range 25-74 years). Eleven had haemophilia A and two haemophilia B. Two were treated with standard half-life factor products, five with extended half-life products, five with a FVIII mimetic and one with a clinical trial product. One family member (a participant's partner) was also interviewed. The participants identified four barriers to gene therapy: concerns about the process of gene therapy (Expectations), uncertainty about the results (outcomes), (Access) to treatment, and a lack of understanding about gene therapy (education). CONCLUSIONS: This Exigency study subgroup sees gene therapy as a positive treatment development that promises an improved quality of life. For this participant group, four issues impact their decision to undergo gene therapy. If the promise of gene therapy is to be realised, these barriers need to be acknowledged and addressed by healthcare professionals, patient organisations, and gene therapy providers.


Assuntos
Hemofilia A , Hemofilia B , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Hemofilia A/tratamento farmacológico , Qualidade de Vida , Hemorragia , Terapia Genética
3.
Plast Reconstr Surg ; 153(3): 553-566, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37166039

RESUMO

BACKGROUND: Increasing body mass index (BMI) is a known risk factor for autologous microsurgical breast reconstruction. No prior studies have stratified outcomes across BMI ranges or defined the BMI at which complication rates dramatically increase. METHODS: The authors performed a retrospective chart review of all patients who underwent abdominally based autologous free flap breast reconstruction at their institution between 2004 and 2021. Clinical, surgical, and outcomes data were collected. Patients were stratified into five BMI categories: 25, 25.01 to 30, 30.01 to 35, 35.01 to 40, and greater than 40 kg/m 2 . Complication rates were analyzed across these groups, and a receiver-operating characteristic analysis was used to determine an optimal BMI cutoff point. RESULTS: A total of 365 patients (545 breasts) were included in this study. The rates of several breast complications significantly increased with increasing BMI at distinct levels, including any breast complication (BMI >30 kg/m 2 ), unplanned reoperation (BMI >35 kg/m 2 ), fat necrosis (BMI >40 kg/m 2 ), wound breakdown requiring re-operation (BMI >35 kg/m 2 ), any infection (BMI >30 kg/m 2 ), infection requiring oral antibiotics (BMI >25 kg/m 2 ), infection requiring intravenous antibiotics (BMI >35 kg/m 2 ), and mastectomy flap necrosis (BMI >35 kg/m 2 ). The rates of many abdominal complications significantly increased with increasing BMI at distinct levels as well, including delayed wound healing (BMI >30 kg/m 2 ), wound breakdown requiring re-operation (BMI >40 kg/m 2 ), any infection (BMI >25 kg/m 2 ), and infection requiring oral antibiotics (BMI >25 kg/m 2 ). Optimal BMI cutoffs of 32.7 and 30.0 kg/m 2 were determined to minimize the occurrence of any breast complication and any abdomen complication, respectively. CONCLUSIONS: Preoperative weight loss has great potential to alleviate surgical risk in overweight and obese patients pursuing autologous breast reconstruction. The authors' results quantify the risk reduction based on a patient's preoperative BMI. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.


Assuntos
Neoplasias da Mama , Mamoplastia , Humanos , Feminino , Mastectomia/efeitos adversos , Mastectomia/métodos , Índice de Massa Corporal , Estudos Retrospectivos , Neoplasias da Mama/etiologia , Mamoplastia/efeitos adversos , Mamoplastia/métodos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Deiscência da Ferida Operatória/etiologia , Antibacterianos
4.
Arthritis Care Res (Hoboken) ; 76(3): 328-339, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37691306

RESUMO

OBJECTIVE: Systemic juvenile idiopathic arthritis-associated lung disease (SJIA-LD) is a life-threatening disease complication. Key questions remain regarding clinical course and optimal treatment approaches. The objectives of the study were to detail management strategies after SJIA-LD detection, characterize overall disease courses, and measure long-term outcomes. METHODS: This was a prospective cohort study. Clinical data were abstracted from the electronic medical record, including current clinical status and changes since diagnosis. Serum biomarkers were determined and correlated with presence of LD. RESULTS: We enrolled 41 patients with SJIA-LD, 85% with at least one episode of macrophage activation syndrome and 41% with adverse reactions to a biologic. Although 93% of patients were alive at last follow-up (median 2.9 years), 37% progressed to requiring chronic oxygen or other ventilator support, and 65% of patients had abnormal overnight oximetry studies, which changed over time. Eighty-four percent of patients carried the HLA-DRB1*15 haplotype, significantly more than patients without LD. Patients with SJIA-LD also showed markedly elevated serum interleukin-18 (IL-18), variable C-X-C motif chemokine ligand 9 (CXCL9), and significantly elevated matrix metalloproteinase 7. Treatment strategies showed variable use of anti-IL-1/6 biologics and addition of other immunomodulatory treatments and lung-directed therapies. We found a broad range of current clinical status independent of time from diagnosis or continued biologic treatment. Multidomain measures of change showed imaging features were the least likely to improve with time. CONCLUSION: Patients with SJIA-LD had highly varied courses, with lower mortality than previously reported but frequent hypoxia and requirement for respiratory support. Treatment strategies were highly varied, highlighting an urgent need for focused clinical trials.


Assuntos
Artrite Juvenil , Pneumopatias , Síndrome de Ativação Macrofágica , Criança , Humanos , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico , Artrite Juvenil/tratamento farmacológico , Estudos Prospectivos , Pulmão , Síndrome de Ativação Macrofágica/diagnóstico , Síndrome de Ativação Macrofágica/etiologia , Síndrome de Ativação Macrofágica/terapia , Progressão da Doença
5.
Microsurgery ; 44(1): e31120, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37795640

RESUMO

The use of liquid silicone injections for soft tissue augmentation harbors numerous risks and is not approved by the FDA. Still, such injections are frequently performed by unlicensed providers, often in the gluteal region, and can lead to infection, soft-tissue breakdown, scarring, and disfigurement. The purpose of this case report was to demonstrate the use of immediate, abdominally based free flaps for reconstruction in a patient with bilateral total gluteal defects and limited inflow options in the setting of remote silicone injections. The patient is a 45-year-old female who developed chronically infected injected silicone in the bilateral buttocks leading to draining abscesses and soft tissue breakdown. The patient required radical debridement and excision of the bilateral buttocks to remove all foreign material. After intermediate skin grafting of the residual wounds, the patient then was deemed a candidate for bilateral free flap reconstruction of the buttocks. On exploration of the bilateral defects, both 20 cm × 10 cm in size, the gluteal vessels were non-usable, and preoperative CTA additionally had revealed no suitable posteriorly based perforators. Therefore, bilateral arteriovenous (AV) loops, measuring 30 cm in length, were then constructed utilizing the greater saphenous veins anastomosed to the femoral arteries which were then tunneled to the defect. The soft tissue defects were concurrently reconstructed with bilateral deep inferior epigastric perforator (DIEP) flaps measuring 16 cm × 12 cm. The postoperative course was complicated by small seromas in each groin requiring drain placement by interventional radiology on postoperative day 16. Otherwise, the patient's buttocks healed well, and functionally, the patient had regained the ability to sit and was satisfied with the aesthetic appearance of the reconstruction as of last follow-up at 10 months. Abdominally based free flap reconstruction with AV loops, in this case, provided for successful reconstruction of otherwise challenging soft-tissue defects with limited inflow options.


Assuntos
Retalho Perfurante , Procedimentos de Cirurgia Plástica , Feminino , Humanos , Pessoa de Meia-Idade , Retalho Perfurante/irrigação sanguínea , Artérias Epigástricas/cirurgia , Transplante de Pele , Silicones
6.
Ann Plast Surg ; 90(5): 432-436, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-37146309

RESUMO

INTRODUCTION: Autologous reconstruction following nipple-sparing mastectomy (NSM) is either performed in a delayed-immediate fashion, with a tissue expander placed initially at the time of mastectomy and autologous reconstruction performed later, or immediately at the time of NSM. It has not been determined which method of reconstruction leads to more favorable patient outcomes and lower complication rates. METHODS: We performed a retrospective chart review of all patients who underwent autologous abdomen-based free flap breast reconstruction after NSM between January 2004 and September 2021. Patients were stratified into 2 groups by timing of reconstruction (immediate and delayed-immediate). All surgical complications were analyzed. RESULTS: One hundred one patients (151 breasts) underwent NSM followed by autologous abdomen-based free flap breast reconstruction during the defined time period. Fifty-nine patients (89 breasts) underwent immediate reconstruction, whereas 42 patients (62 breasts) underwent delayed-immediate reconstruction. Considering only the autologous stage of reconstruction in both groups, the immediate reconstruction group experienced significantly more delayed wound healing, wounds requiring reoperation, mastectomy skin flap necrosis, and nipple-areolar complex necrosis. Analysis of cumulative complications from all reconstructive surgeries revealed that the immediate reconstruction group still experienced significantly greater cumulative rates of mastectomy skin flap necrosis. However, the delayed-immediate reconstruction group experienced significantly greater cumulative rates of readmission, any infection, infection requiring PO antibiotics, and infection requiring IV antibiotics. CONCLUSIONS: Immediate autologous breast reconstruction after NSM alleviates many issues seen with tissue expanders and delayed autologous reconstruction. Although mastectomy skin flap necrosis occurs at a significantly greater rate after immediate autologous reconstruction, it can often be managed conservatively.


Assuntos
Neoplasias da Mama , Mamoplastia , Mastectomia Subcutânea , Humanos , Feminino , Mastectomia/métodos , Estudos Retrospectivos , Mamilos/cirurgia , Neoplasias da Mama/complicações , Mamoplastia/métodos , Mastectomia Subcutânea/métodos , Complicações Pós-Operatórias/cirurgia , Necrose
7.
Haemophilia ; 29(3): 776-783, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36882329

RESUMO

BACKGROUND: Qualitative studies have explored why people with haemophilia (PwH) might consider or forgo gene therapy, the impact it has had on those who have received it, and what support might be needed throughout the process. No studies have yet examined what withdrawal prior to transfection might mean for PwH and their families. AIMS: To understand the experiences of PwH and their families of withdrawal from gene therapy and to understand what support mechanisms might be required. METHODS: Qualitative interviews were conducted with people with severe haemophilia who consented to take part in a gene therapy study in the UK but either withdrew or were withdrawn before transfection. RESULTS: Nine PwH and a family member were invited to this sub-study. Eight participants were recruited: six PwH (five haemophilia A and one haemophilia B) and two family members. Four participants were excluded from a study after consenting but before transfection, having failed to meet all the inclusion criteria; two withdrew after consenting but before transfection due to concerns including duration of factor expression and the time commitment involved in follow-up. The mean age of participants was 40.5 years (range 25-63 years). Two major themes emerged during the interviews: Expectation and loss. CONCLUSIONS: PwH have many expectations about the difference gene therapy can make to their lives. Studies show that these expectations may not be fully realised. For those who have either withdrawn or been withdrawn from gene therapy, any expectations they had may now be unachievable. The nature of these expectations and the loss expressed by the participants indicate that support needs to be provided to help them and their families manage it.


Assuntos
Hemofilia A , Hemofilia B , Humanos , Adulto , Pessoa de Meia-Idade , Hemofilia A/genética , Hemofilia A/terapia , Motivação , Família , Modalidades de Fisioterapia
8.
Plast Reconstr Surg Glob Open ; 11(1): e4736, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36699216

RESUMO

In nipple-sparing mastectomy, adequate perfusion to the nipple-areolar complex (NAC) during reconstruction is paramount to avoiding unwanted outcomes. Previous studies have suggested that periareolar incisions may result in higher rates of NAC complications. However, studies to date have not specifically investigated this in prepectoral reconstruction. The purpose of this study is to evaluate the impact of incision location on NAC complications in patients undergoing prepectoral breast reconstruction. Methods: We performed a retrospective review of all patients who underwent immediate two-stage prepectoral breast reconstruction following nipple-sparing mastectomy between 2015 and 2018 at a single institution. We identified two types of incisions utilized: superior periareolar or inframammary fold (IMF). Patient demographics, comorbidities, and surgical details were compared between incision types, as were NAC complications. Results: A total of 181 consecutive prepectoral breast reconstructions were included for analysis. A superior periareolar incision was used in 113 reconstructions (62%), and an IMF incision was used in 68 reconstructions (38%). There were 33 (18%) total NAC complications in our series. The periareolar incision group had a higher rate of any NAC complication (25% versus 7.4%; P < 0.01), as well as a higher rate of nipple necrosis requiring debridement (9.7% versus 1.5%; P = 0.03). Conclusions: In patients undergoing immediate two-stage prepectoral breast reconstruction following nipple-sparing mastectomy, periareolar incisions are associated with an increased risk of NAC complications compared with IMF incisions. For patients who are candidates for either an IMF or periareolar incision, a periareolar incision should be avoided.

9.
Eval Program Plann ; 97: 102222, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36586303

RESUMO

BACKGROUND: Quality improvement (QI) in healthcare is a cultural transformation process. We explored how routine reporting could be developed to aid visibility of the process for QI governance. METHOD: A retrospective evaluation of QI projects in a large healthcare organisation was conducted. We used an online survey so that the data accrual process resembled routine reporting to help identify implementation challenges. A purposive sample of QI projects was targeted to maximise contrast between projects that were or were not successful as determined by the resident QI team. To hone strategic focus in what should be reported, we also compared factors that might affect project outcomes. RESULTS: Out of 52 QI projects, 10 led to a change in routine practice ('adoption'). Details of project outcomes were limited. Project team outcomes, indicative of capacity building, were not systematically documented. Service user involvement, quality of measurement plan, fidelity of plan-do-study-act (PDSA) cycles had a major impact on adoption. CONCLUSION: Designing a routine reporting framework requires an iterative process to navigate data accrual demands. A retrospective evaluation, as in this study, can yield empirical insights to support development of QI governance, thereby honing the implementation science of QI in a healthcare organisation.


Assuntos
Melhoria de Qualidade , Medicina Estatal , Humanos , Projetos Piloto , Estudos Retrospectivos , Avaliação de Programas e Projetos de Saúde , Reino Unido
10.
Ann Plast Surg ; 89(5): 492-499, 2022 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-36279573

RESUMO

BACKGROUND: Acute pain after mastectomy is increased with concurrent breast reconstruction. One postulated advantage of prepectoral breast reconstruction is less postoperative pain; however, no comparisons to partial submuscular reconstruction have been made to date. Here, we examined the postoperative pain experienced between patients with prepectoral and subpectoral breast reconstruction after mastectomy. METHODS: We performed a retrospective chart review of all patients undergoing immediate breast reconstruction with tissue expanders from 2012 to 2019 by a single plastic surgeon. Patient demographics, surgical details, and anesthetic techniques were evaluated, and our primary outcome compared postoperative opioid usage between prepectoral and subpectoral reconstructions. Our secondary outcome compared pain scores between techniques. RESULTS: A total of 211 subpectoral and 117 prepectoral reconstruction patients were included for analysis. Patients with subpectoral reconstructions had higher postoperative opioid usage (80.0 vs 45.0 oral morphine equivalents, P < 0.001). Subpectoral patients also recorded higher maximum pain scores compared with prepectoral reconstructions while admitted (7 of 10 vs 5 of 10, P < 0.004). Multivariable linear regression suggests that mastectomy type and subpectoral reconstruction were significant contributors to postoperative opioid use (P < 0.05). CONCLUSIONS: Prepectoral breast reconstruction was associated with less postoperative opioid consumption and lower postoperative pain scores as compared with subpectoral reconstruction, when controlling for other surgical and anesthesia factors. Future randomized controlled trials are warranted to study how postoperative pain and chronic pain are influenced by the location of prosthesis placement in implant-based postmastectomy breast reconstruction.


Assuntos
Implante Mamário , Implantes de Mama , Neoplasias da Mama , Mamoplastia , Humanos , Feminino , Mastectomia/métodos , Implante Mamário/métodos , Analgésicos Opioides/uso terapêutico , Neoplasias da Mama/cirurgia , Estudos Retrospectivos , Mamoplastia/métodos , Dor Pós-Operatória/tratamento farmacológico , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/prevenção & controle , Derivados da Morfina
11.
Aesthetic Plast Surg ; 46(5): 2588-2598, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35441238

RESUMO

Aesthetic science is a rapidly growing discipline that involves plastic surgery as much or more than other disciplines of science. Fortunately, how and why the human brain responds to the visual world is better understood now than ever before. Of necessity plastic surgery is a part of that aesthetic science movement because it deals directly with the application of aesthetic principles. Therefore, it behooves the surgeon to be familiar with the principles of aesthetic science so as to both delineate and attain the aesthetic goal at the same time any functional goal is part of the operation. There are three important principles for rhinoplasty: (1) symmetry, (2) continuity and (3) persistence. This study provides examples of how they apply in the preop, intraop and postop phase of performing aesthetic rhinoplasty. A firm understanding of these principles can then guide the surgeon through the difficult maze of decision making, operative planning and surgical execution that arguably makes aesthetic rhinoplasty the most difficult aesthetic operation in plastic surgery. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Assuntos
Procedimentos de Cirurgia Plástica , Rinoplastia , Cirurgia Plástica , Humanos , Estética , Resultado do Tratamento
12.
Orphanet J Rare Dis ; 17(1): 155, 2022 04 04.
Artigo em Inglês | MEDLINE | ID: mdl-35379267

RESUMO

BACKGROUND: Gene therapy has the potential to change the life experience of people with haemophilia and family members. Few studies have sought to explore the impact of gene therapy on both individuals and families. The aim of this study was to capture real-life experiences of gene therapy in People with haemophilia and their families. RESULTS: Sixteen participants with severe haemophilia (11 haemophilia A, five haemophilia B), mean age 41.4 years (range 23-75 years), took part in a single qualitative interview; ten were accompanied by a family member. Mean time since transfection was 3.56 years (range 1-10 years). Participants saw their involvement in gene therapy as a positive experience, freeing them from the personal burden of haemophilia and furthering treatment options for the wider haemophilia community. However, participants reported being unprepared for the side effects of immunosuppression. Some also reported feeling unsupported and having little control over what was happening as their factor levels became the focus of the process. CONCLUSION: The results suggest that strategies need to be put into place to enable PwH fully to understand the process of gene therapy, and thereby make an informed choice as to whether it is a treatment they might wish for themselves. These include early and ongoing education, increased provision of psychosocial support and ongoing qualitative research.


Assuntos
Hemofilia A , Adulto , Idoso , Ensaios Clínicos como Assunto , Emoções , Família/psicologia , Terapia Genética , Hemofilia A/tratamento farmacológico , Hemofilia A/terapia , Humanos , Pessoa de Meia-Idade , Pesquisa Qualitativa , Adulto Jovem
13.
ACS Appl Mater Interfaces ; 14(7): 9352-9362, 2022 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-35142505

RESUMO

Herein, we subject formamidinium lead iodide films to oxygen-containing gases (flowing O2 or free diffusion of lab atmosphere), inert gases (flowing He, Ar, or N2), and vacuum. Our films are irradiated by Cu Kα X-rays and held at 75 °C while X-ray diffraction is recorded. Under all gas conditions, we observe a reproducible 1.1 ± 0.5 Å3 perovskite lattice contraction from an initial unit cell volume of 256.5 ± 0.8 Å3 concurrent with continuous perovskite loss and lead iodide growth. Oxygen-containing gases increase the reaction rates without materially altering perovskite structural changes. Under the same temperature and irradiation conditions in vacuo, a self-healing reaction is observed, exhibited by a reproducible (0.9 ± 0.3 Å3) lattice expansion and stabilization of the perovskite. Interactions between the perovskite, defects, and minority phases are simulated by generalized gradient approximation Perdew-Burke-Ernzerhof (GGA-PBE) density functional theory. Lattice contraction indicates an increase in the concentration of Schottky defects─pairs of formamidinium and iodine vacancies. Under irradiation in every atmospheric condition, a solid solution of Schottky defects with a concentration of several percent diffuses and precipitates forming lead iodide and consuming the defects. In the presence of ionized gases, this framework is modified to include the continual loss of formamidinium and iodine ions from the perovskite forming Schottky defects.

14.
Implement Sci ; 17(1): 9, 2022 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-35086528

RESUMO

BACKGROUND: Implementing evidence-based recommendations is challenging in UK primary care, especially given system pressures and multiple guideline recommendations competing for attention. Implementation packages that can be adapted and hence applied to target multiple guideline recommendations could offer efficiencies for recommendations with common barriers to achievement. We developed and evaluated a package of evidence-based interventions (audit and feedback, educational outreach and reminders) incorporating behaviour change techniques to target common barriers, in two pragmatic trials for four "high impact" indicators: risky prescribing; diabetes control; blood pressure control; and anticoagulation in atrial fibrillation. We observed a significant, cost-effective reduction in risky prescribing but there was insufficient evidence of effect on the other outcomes. We explored the impact of the implementation package on both social processes (Normalisation Process Theory; NPT) and hypothesised determinants of behaviour (Theoretical Domains Framework; TDF). METHODS: We conducted a prospective multi-method process evaluation. Observational, administrative and interview data collection and analyses in eight primary care practices were guided by NPT and TDF. Survey data from trial and process evaluation practices explored fidelity. RESULTS: We observed three main patterns of variation in how practices responded to the implementation package. First, in integration and achievement, the package "worked" when it was considered distinctive and feasible. Timely feedback directed at specific behaviours enabled continuous goal setting, action and review, which reinforced motivation and collective action. Second, impacts on team-based determinants were limited, particularly when the complexity of clinical actions impeded progress. Third, there were delivery delays and unintended consequences. Delays in scheduling outreach further reduced ownership and time for improvement. Repeated stagnant or declining feedback that did not reflect effort undermined engagement. CONCLUSIONS: Variable integration within practice routines and organisation of care, variable impacts on behavioural determinants, and delays in delivery and unintended consequences help explain the partial success of an adaptable package in primary care.


Assuntos
Diabetes Mellitus , Prática Clínica Baseada em Evidências , Atenção à Saúde , Diabetes Mellitus/terapia , Humanos , Atenção Primária à Saúde/métodos , Estudos Prospectivos
15.
Health Expect ; 25(1): 443-454, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34878209

RESUMO

BACKGROUND: People with haemophilia A and inhibitors (PwHi) suffer more orthopaedic complications, bleeding and pain than those without inhibitors. The advent of emicizumab as a prophylactic treatment has led to a reduction in bleed frequency and a significant improvement in overall quality of life. No research to date has examined the nature of this improvement on treated individuals and their families. AIMS: The Emi & Me study aims to capture the real-life experience of using emicizumab for PwHi and their families. METHODS: Participants were recruited through treatment centres, social media and by word of mouth. Each participant and a family member, if available, took part in a semistructured qualitative interview. All interviews were recorded, transcribed verbatim and analysed thematically. All elements of the study were reviewed by local statutory authorities and informed consent was sought from all participants. RESULTS: Fifteen PwHi, mean age 27.2 years (range 8-63 years), most with a family member, participated in a single qualitative interview online (n = 13), by telephone (n = 1) or in person (n = 1). Mean time on emicizumab was 2.26 years (range 1-5 years). Six major themes emerged: bleeds; pain; treatment burden; control; freedom (for both PwHi and family members) and missed potential. Emicizumab prophylaxis has delivered significant improvements in the lives of the participants. Despite these improvements, some participants felt that their pre-existing physical disabilities and the lack of physiotherapy provision had prevented them achieving similar improvements in their functional ability. CONCLUSION: This study shows that in reducing bleeds, pain and treatment burden, emicizumab had given PwHi greater control over their condition, allowing a sense of freedom they had not experienced with factor VIII or bypassing agent prophylaxis. However, for emicizumab to be truly effective, there is a need to ensure the continued availability and accessibility of robust multidisciplinary support services. Without this, it is unlikely that PwHi will realize the life-changing potential offered either by emicizumab or any other novel treatment approach. PATIENT OR PUBLIC CONTRIBUTION: A patient participant (who did not wish to be included as an author of the paper) was involved in the design of the study protocol and interview guide.


Assuntos
Hemofilia A , Atividades Cotidianas , Adolescente , Adulto , Criança , Família , Hemofilia A/complicações , Hemofilia A/tratamento farmacológico , Hemorragia/complicações , Hemorragia/prevenção & controle , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Adulto Jovem
16.
Ann Vasc Surg ; 82: 197-205, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34902473

RESUMO

INTRODUCTION: Lymphatic complications following vascular procedures involving the groin require prompt treatment to limit morbidity. Several treatments have been described, including conservative management, aspiration, sclerotherapy, and direct lymphatic ligation with or without a muscle flap have been described. To date, there is no data indicating which treatment results in the shortest time to recovery. We sought to address this gap by conducting a retrospective cohort study. METHODS: We reviewed all patients who developed a lymphatic complication after undergoing an open revascularization procedure in the groin between 2014 and 2020 in which plastic surgery was involved in the closure. A control group consisted of patients from the same timespan who did not develop a lymphatic complication. Demographics, comorbidities, operative details, and outcomes were compared between these groups. For cases identified with a lymphatic complication, the method of diagnosis, culture data, and treatment details were collected, and outcomes were compared for surgical management versus sclerotherapy. RESULTS: There were 27 lymphatic complications and 60 control patients. The complication group had a higher incidence of aortofemoral bypass (25.8% vs. 8.3%, P = 0.04), and a lower incidence of femoral-to-distal bypass (11.1% vs. 45.0%, P < 0.01). Daily drain output volume from postoperative days 1-5, and days 6-10, was significantly higher in the complication group than in the controls (194.0 vs. 44.0, P < 0.01; and 429.5 vs. 35.0, P < 0.01, respectively). In the lymphatic leak group, 16 patients (59.3%) had surgical treatment and six (22.2%) had sclerotherapy. Of those who had surgery, 71.4% had successful outcomes without the need for an additional intervention, whereas all of the patients analyzed who were treated with sclerotherapy had successful outcomes without further intervention. The average time to resolution was significantly shorter for surgery than for sclerotherapy (38.7 vs. 86.0 days, P = 0.03). CONCLUSIONS: Daily postoperative drain volume can assist with early diagnosis of a lymphatic leak in the groin following an open revascularization procedure. Sclerotherapy and surgery were each successful, but surgery resulted in significantly shorter times to resolution. In the appropriate candidates, surgery should be considered first line management of a lymphatic leak.


Assuntos
Virilha , Cirurgia Plástica , Virilha/cirurgia , Humanos , Extremidade Inferior/irrigação sanguínea , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/terapia , Estudos Retrospectivos , Resultado do Tratamento
17.
Ann Vasc Surg ; 78: 77-83, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34433093

RESUMO

BACKGROUND: Complications following vascular procedures involving the groin can lead to significant morbidity. Achieving stable soft tissue coverage over sites of revascularization can help mitigate complications. Prior evidence supports the use of muscle flaps in reoperative groins and in high risk patient populations to reduce postoperative complications. Data regarding the use of prophylactic muscle flap coverage of the groin is lacking. Therefore, the purpose of this study is to evaluate the effect of immediate prophylactic muscle flap coverage of vascular wounds involving the groin. METHODS: A retrospective cohort study was performed on all patients undergoing primary open vascular procedures involving the groin for occlusive, aneurysmal, or oncologic disease between 2014 and 2020 at a single institution where plastic surgery was involved in closure. Patient demographics, comorbidities, surgical details, and postoperative complications were compared between patients who had sartorius muscle flap coverage of the vascular repair versus layered closure alone. RESULTS: A total of 133 consecutive groins were included in our analysis. A sartorius flap was used in 115 groins (86.5%) and a layered closure was used in 18 (13.5%). Wound breakdown was similar between groups (25.2% sartorius vs. 38.9% layered closure, P = 0.26). However, the rate of reoperation was significantly higher in the layered closure group (50.0% vs. 12.2%, P < 0.01). Among patients who experienced wound breakdown (N = 36), a larger proportion of layered closure patients required operative intervention (71.4% vs. 20.7%, P = 0.02). Other rates of complications were not statistically different between groups. CONCLUSIONS: In patients undergoing primary open vascular procedures involving the groin, patients who underwent prophylactic sartorius muscle flap closure had lower rates of reoperation. Although incisional breakdown was similar between the groups overall, the presence of a vascularized muscle flap overlying the vascular repair was associated with reduced need for reoperation and allowed more wounds to be managed with local wound care alone. Consideration should be given to this low morbidity local muscle flap in patients undergoing vascular procedures involving the groin.


Assuntos
Virilha/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Retalhos Cirúrgicos , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Idoso , Aneurisma/cirurgia , Arteriopatias Oclusivas/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reoperação , Estudos Retrospectivos , Ferida Cirúrgica
20.
Haemophilia ; 27(5): 760-768, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34265145

RESUMO

INTRODUCTION: For many people with haemophilia (PwH) gene therapy offers a potential functional cure. However, some have stated that they do not wish to have gene therapy either now or in the future. AIM: This sub-study, part of the larger Exigency programme, assesses the attitudes, views and understanding of those who do not wish to undergo gene therapy. METHODS: Participants were approached via social media and word of mouth referral and invited to participate in a focus group or individual interview to discuss their views. Interviews were recorded, transcribed verbatim and analysed thematically. RESULTS: Ten adult men with severe haemophilia (eight haemophilia A and two haemophilia B), mean age 34.3 years, participated in a 1-h focus group (n = 9) or interview (n = 1). All were on prophylaxis. None reported significant treatment burden, and all had annual bleeding rates of less than five in the previous 12 months. Four major themes emerged: self-identity and its loss, lack of long-term safety and efficacy data, ongoing concerns about past viral infection, and lack of current treatment burden. CONCLUSION: There are many concerns about gene therapy, including eligibility, effectiveness and safety, which may result in individuals declining it as a therapy. These concerns may recede as more data are published. This study reveals a psychological dynamic around self-identity and belonging for PwH. The nature of this dynamic is poorly understood and needs exploration to facilitate support for those making decisions about gene therapy.


Assuntos
Hemofilia A , Hemofilia B , Adulto , Tomada de Decisões , Terapia Genética , Hemofilia A/genética , Hemofilia A/terapia , Hemofilia B/genética , Hemofilia B/terapia , Hemorragia , Humanos , Masculino
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