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1.
J Hand Surg Eur Vol ; : 17531934241274612, 2024 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-39315553

RESUMO

The development of the ulnar collateral ligament (UCL) guideline was undertaken in accordance with the British Society for Surgery of the Hand Evidence for Surgical Treatment (BEST) Process Manual, which has been accredited by the National Institute for Health and Care Excellence, UK. This review article serves as a summary of the systematic reviews and the final guideline. The group included two patients, a radiologist, a commissioner, an emergency medicine doctor, hand therapists and hand surgeons. The group's recommendations are that patients with acute UCL injuries should be assessed with a history, clinical examination and radiographs. Patients without significant joint laxity can be treated non-surgically. Patients with significant joint laxity on clinical examination may be treated with non-surgical joint immobilization or surgical repair and should reach a shared decision with their clinician about the definitive treatment within 2 weeks of presentation.

2.
Bone Jt Open ; 5(8): 708-714, 2024 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-39168472

RESUMO

Aims: Complete ruptures of the ulnar collateral ligament (UCL) of the thumb are a common injury, yet little is known about their current management in the UK. The objective of this study was to assess the way complete UCL ruptures are managed in the UK. Methods: We carried out a multicentre, survey-based cross-sectional study in 37 UK centres over a 16-month period from June 2022 to September 2023. The survey results were analyzed descriptively. Results: A total of 37 centres participated, of which nine were tertiary referral hand centres and 28 were district general hospitals. There was a total of 112 respondents (69 surgeons and 43 hand therapists). The strongest influence on the decision to offer surgery was the lack of a firm 'endpoint' to stressing the metacarpophalangeal joint (MCPJ) in either full extension or with the MCPJ in 30° of flexion. There was variability in whether additional imaging was used in managing acute UCL injuries, with 46% routinely using additional imaging while 54% did not. The use of a bone anchor was by far the most common surgical option for reconstructing an acute ligament avulsion (97%, n = 67) with a transosseous suture used by 3% (n = 2). The most common duration of immobilization for those managed conservatively was six weeks (58%, n = 65) and four weeks (30%, n = 34). Most surgeons (87%, n = 60) and hand therapists (95%, n = 41) would consider randomizing patients with complete UCL ruptures in a future clinical trial. Conclusion: The management of complete UCL ruptures in the UK is highly variable in certain areas, and there is a willingness for clinical trials on this subject.

3.
Bone Joint J ; 106-B(4): 387-393, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38555933

RESUMO

Aims: There is a lack of published evidence relating to the rate of nonunion seen in occult scaphoid fractures, diagnosed only after MRI. This study reports the rate of delayed union and nonunion in a cohort of patients with MRI-detected acute scaphoid fractures. Methods: This multicentre cohort study at eight centres in the UK included all patients with an acute scaphoid fracture diagnosed on MRI having presented acutely following wrist trauma with normal radiographs. Data were gathered retrospectively for a minimum of 12 months at each centre. The primary outcome measures were the rate of acute surgery, delayed union, and nonunion. Results: A total of 1,989 patients underwent acute MRI for a suspected scaphoid fracture during the study period, of which 256 patients (12.9%) were diagnosed with a previously occult scaphoid fracture. Of the patients with scaphoid fractures, six underwent early surgical fixation (2.3%) and there was a total of 16 cases of delayed or nonunion (6.3%) in the remaining 250 patients treated with cast immobilization. Of the nine nonunions (3.5%), seven underwent surgery (2.7%), one opted for non-surgical treatment, and one failed to attend follow-up. Of the seven delayed unions (2.7%), one (0.4%) was treated with surgery at two months, one (0.4%) did not attend further follow-up, and the remaining five fractures (1.9%) healed after further cast immobilization. All fractures treated with surgery had united at follow-up. There was one complication of surgery (prominent screw requiring removal). Conclusion: MRI-detected scaphoid fractures are not universally benign, with delayed or nonunion of scaphoid fractures diagnosed only after MRI seen in over 6% despite appropriate initial immobilization, with most of these patients with nonunion requiring surgery to achieve union. This study adds weight to the evidence base supporting the use of early MRI for these patients.


Assuntos
Fraturas Ósseas , Fraturas Fechadas , Fraturas não Consolidadas , Traumatismos da Mão , Osso Escafoide , Traumatismos do Punho , Humanos , Fraturas Ósseas/cirurgia , Estudos Retrospectivos , Estudos de Coortes , Osso Escafoide/lesões , Traumatismos do Punho/diagnóstico por imagem , Traumatismos do Punho/cirurgia , Fixação Interna de Fraturas/efeitos adversos , Fraturas Fechadas/diagnóstico por imagem , Fraturas Fechadas/etiologia , Imageamento por Ressonância Magnética , Traumatismos da Mão/complicações , Fraturas não Consolidadas/diagnóstico por imagem , Fraturas não Consolidadas/cirurgia , Fraturas não Consolidadas/complicações
4.
Hand Ther ; 28(4): 121-132, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38033524

RESUMO

Introduction: We aimed to synthesise the experiences of people living with hand osteoarthritis (HOA) and the perceptions of clinicians and carers relating to the quality of life and treatment services. Methods: We undertook a systematic search on MEDLINE, Embase, and CINAHL electronic databases for qualitative studies in HOA. We used the Critical Appraisal Skills Programme (CASP) checklist to assess methodological quality and thematically-synthesise the findings. We used GRADE-CERQual (Grading of Recommendations Assessment, Development, and Evaluation- Confidence in the Evidence from Reviews of Qualitative Research) to assess the quality of the evidence. Results: We identified 13 studies involving people with HOA (288 women and 39 men, average age 61.4 years) and clinicians. Five themes were identified from studies involving people with HOA: i) My hands are painful whenever I use them; ii) It stops me doing everyday activities; iii) It stops me doing things I value; iv) It's psychologically challenging and v) I find ways of doing things. The quality of evidence was moderate except for pain with low quality of evidence. Most studies were conducted in Europe and the United Kingdom with participants recruited predominantly from hospital settings. We were not able to synthesise the three studies that involved clinicians as each explored different topics of HOA. There were no studies that involved carers. Conclusions: Our findings highlighted the impact of HOA in various areas of life and the need for personalised psychological support in practice.

6.
BMJ ; 382: 1890, 2023 08 22.
Artigo em Inglês | MEDLINE | ID: mdl-37607741
7.
Bone Jt Open ; 3(11): 913-920, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36399338

RESUMO

AIMS: The evidence demonstrating the superiority of early MRI has led to increased use of MRI in clinical pathways for acute wrist trauma. The aim of this study was to describe the radiological characteristics and the inter-observer reliability of a new MRI based classification system for scaphoid injuries in a consecutive series of patients. METHODS: We identified 80 consecutive patients with acute scaphoid injuries at one centre who had presented within four weeks of injury. The radiographs and MRI scans were assessed by four observers, two radiologists, and two hand surgeons, using both pre-existing classifications and a new MRI based classification tool, the Oxford Scaphoid MRI Assessment Rating Tool (OxSMART). The OxSMART was used to categorize scaphoid injuries into three grades: contusion (grade 1); unicortical fracture (grade 2); and complete bicortical fracture (grade 3). RESULTS: In total there were 13 grade 1 injuries, 11 grade 2 injuries, and 56 grade 3 injuries in the 80 consecutive patients. The inter-observer reliability of the OxSMART was substantial (Kappa = 0.711). The inter-observer reliability of detecting an obvious fracture was moderate for radiographs (Kappa = 0.436) and MRI (Kappa = 0.543). Only 52% (29 of 56) of the grade 3 injuries were detected on plain radiographs. There were two complications of delayed union, both of which occurred in patients with grade 3 injuries, who were promptly treated with cast immobilization. There were no complications in the patients with grade 1 and 2 injuries and the majority of these patients were treated with early mobilization as pain allowed. CONCLUSION: This MRI based classification tool, the OxSMART, is reliable and clinically useful in managing patients with acute scaphoid injuries.Cite this article: Bone Jt Open 2022;3(11):913-920.

8.
Bone Jt Open ; 3(4): 321-331, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35394369

RESUMO

AIMS: Osteoarthritis (OA) affecting the thumb carpometacarpal joint (CMCJ) is a common painful condition. In this study, we aimed to explore clinicians' approach to management with a particular focus on the role of specific interventions that will inform the design of future clinical trials. METHODS: We interviewed a purposive sample of 24 clinicians, consisting of 12 surgeons and 12 therapists (four occupational therapists and eight physiotherapists) who managed patients with CMCJ OA. This is a qualitative study using semi-structured, online interviews. Interviews were audio-recorded, transcribed verbatim, and analyzed using thematic analysis. RESULTS: A total of 14 themes were developed, six of which were developed relating to the clinical management of CMCJ OA: 1) A flexible 'ladder' approach starting with conservative treatment first; 2) The malleable role of steroid injection; 3) Surgery as an invasive and risky last resort; 4) A shared and collaborative approach; 5) Treating the whole person; and 6) Severity of life impact influences treatment. The remaining eight themes were developed relating to clinical trial barriers and facilitators: 1) We need to embrace uncertainty; 2) You are not losing out by taking part; 3) It is difficult to be neutral about certain treatments; 4) Difficult to recruit to 'no treatment' ; 5) Difficult to recruit to a trial comparing no surgery to surgery; 6) Patients are keen to participate in research; 7) Burden on staff and participants; and 8) A enthusiasm for a variety of potential trial arms. CONCLUSION: Our findings contribute to a better understanding of how clinicians manage thumb CMCJ OA in their practice settings. Our study also provides useful insights informing the design of randomized clinical trials involving steroid injections and surgery in people with thumb CMCJ OA. Cite this article: Bone Jt Open 2022;3(4):321-331.

10.
Bone Jt Open ; 2(11): 997-1003, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34839716

RESUMO

AIMS: Current National Institute for Health and Clinical Excellence (NICE) guidance advises that MRI direct from the emergency department (ED) should be considered for suspected scaphoid fractures. This study reports the current management of suspected scaphoid fractures in the UK and assesses adherence with NICE guidance. METHODS: This national cross-sectional study was carried out at 87 NHS centres in the UK involving 122 EDs and 184 minor injuries units (MIUs). The primary outcome was availability of MRI imaging direct from the ED. We also report the specifics of patient management pathways for suspected scaphoid fractures in EDs, MIUs, and orthopaedic services. Overall, 62 of 87 centres (71%) had a guideline for the management of suspected scaphoid fractures. RESULTS: A total of 11 of 87 centres (13%) had MRI directly available from the ED. Overall, 14 centres (17%) used cross-sectional imaging direct from the ED: MRI in 11 (13%), CT in three (3%), and a mixture of MRI/CT in one (1%). Four centres (6%) used cross-sectional imaging direct from the MIU: MRI in three (4%) and CT in two (2%). Of 87 centres' orthopaedic specialist services, 74 (85%) obtained repeat radiographs, while the most common form of definitive imaging used was MRI in 55 (63%), CT in 16 (19%), mixture of MRI/CT in three (3%), and radiographs in 11 (13%). CONCLUSION: Only a small minority of centres currently offer MRI directly from the ED for patients with a suspected scaphoid fracture. Further research is needed to investigate the facilitators and barriers to the implementation of NICE guidance. Cite this article: Bone Jt Open 2021;2(11):997-1003.

11.
Rheumatology (Oxford) ; 60(9): 4094-4102, 2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-34469568

RESUMO

OBJECTIVE: Base of thumb OA (BTOA) is a common age-related disease that has a significant negative impact on quality of life, while little is known about the structure and pathways of interface services. Our aim was to assess disease burden, referral pathways, service structure and management pathways in UK interface services. METHODS: A structured questionnaire was carried out with a participating clinician at each centre to detail the local guidelines and management of BTOA. Five patients referred with BTOA were prospectively identified in each of 32 UK interface centres. RESULTS: Most centres (72%) had a local guideline and a standardized treatment regime consisting of education (100%), joint protection (100%), range of motion exercises (84%), strengthening exercises (88%), splintage (100%) and use of assistive devices (78%). No centre routinely offered a steroid injection at the first appointment and no centre had a specific threshold for offering an injection. Injection delivery was variable. Most patients had not been referred previously (82%). Most patients used analgesia (72%), but a minority of patients had been treated with a splint (46%), therapy (43%) and steroid injection (27%) prior to their latest attendance. CONCLUSION: Most BTOA patients newly referred to interface services have been treated with analgesics and have not received comprehensive multimodal intervention. The management of BTOA at interface services is standardized in terms of education, splintage and therapy. However, there is a lack of standardization in terms of both the threshold for, timing of and mode of delivery of injection therapy.


Assuntos
Articulações Carpometacarpais/fisiopatologia , Osteoartrite/terapia , Modalidades de Fisioterapia , Polegar/fisiopatologia , Idoso , Terapia por Exercício , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/fisiopatologia , Amplitude de Movimento Articular/fisiologia , Resultado do Tratamento , Reino Unido
14.
Bone Jt Open ; 2(6): 447-453, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34182789

RESUMO

AIMS: To determine the role of early MRI in the management of suspected scaphoid fractures. METHODS: A total of 337 consecutive patients presenting to an emergency department (ED) following wrist trauma over a 12-month period were prospectively included in this service evaluation project. MRI was not required in 62 patients with clear diagnoses, and 17 patients were not managed as per pathway, leaving a total of 258 patients with normal scaphoid series radiographs who were then referred directly from ED for an acute wrist MRI scan. Patient demographics, clinical details, outcomes, and complications were recorded at a minimum of a year following injury. RESULTS: The median time from injury to ED presentation was one day and the median number of positive clinical signs was two out of three (snuffbox tenderness, tubercle tenderness, pain on telescoping). Of 258 patients referred for acute MRI, 208 scans were performed as 50 patients either did not tolerate (five patients) or did not attend their scan (45 patients). MRI scans demonstrated scaphoid fracture (13%), fracture of another bone (22%), scaphoid contusion (6%), other contusion/ligamentous injury (20%), or solely degenerative pathology (10%). Only 29% of scans showed no abnormality. Almost 50% of those undergoing MRI (100 patients) were discharged by ED with advice, with only one re-presentation. Of the 27 undisplaced occult scaphoid fractures, despite prompt cast immobilization, two experienced delayed union which was successfully treated with surgery. CONCLUSION: The use of MRI direct from ED enables prompt diagnosis and the early discharge of a large proportion of patients with normal radiographs following wrist trauma. Cite this article: Bone Jt Open 2021;2(6):447-453.

15.
Rheumatology (Oxford) ; 60(9): 4262-4271, 2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-33410485

RESUMO

OBJECTIVES: Intra-articular steroid injection is commonly used to treat base of thumb osteoarthritis (BTOA), despite a lack of large-scale data on safety and effectiveness. We estimate the incidence of serious complications and further procedures following BTOA injection, including the risk of post-operative serious surgical site infection for subsequent operative intervention. METHODS: Hospital Episode Statistics data linked to mortality records from 1 April 1998 to 31 March 2017 were used to identify all BTOA injections undertaken in adults in the National Health Service secondary care in England. Patients were followed up longitudinally until death or 31 March 2017. A multivariable regression with a Fine and Gray model adjusting for the competing risk of mortality in addition to age, sex and socioeconomic deprivation was used to identify factors associated with progression to further procedure. Secondary outcomes included serious complications after injection and subsequent surgical site infection. RESULTS: A total of 19 120 primary injections were performed during the 19-year period in 18 356 patients. Of these 76.5% were female; mean age 62 years (s.d. 10.6); 50.48% underwent further procedure; 22.40% underwent surgery. Median time to further intervention was 412 days (IQR 110-1945). Female sex was associated with increased risk of proceeding to surgery. Serious complication rate following injection was 0.04% (0.01-0.08) within 90 days. Of those proceeding to surgery 0.16% (0.06-0.34) presented with a wound infection within 30 days and 90 days, compared with an overall post-operative wound infection rate of 0.03% (0.02-0.05). CONCLUSIONS: Very low rates of serious complications were identified following BTOA injections performed in secondary care; only one in five patients proceeded to subsequent surgery. CLINICAL TRIAL REGISTRATION: clinicaltrials.gov, https://www.clinicaltrials.gov, NCT03573765.


Assuntos
Osteoartrite/tratamento farmacológico , Esteroides/uso terapêutico , Polegar , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Injeções Intra-Articulares/efeitos adversos , Masculino , Pessoa de Meia-Idade , Esteroides/administração & dosagem , Adulto Jovem
16.
BMJ Qual Saf ; 30(4): 283-291, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33037143

RESUMO

INTRODUCTION: This study reports the 30-day mortality, SARS-CoV-2 complication rate and SARS-CoV-2-related hospital processes at the peak of the first wave of the pandemic in the UK. METHODS: This national, multicentre, cohort study at 74 centres in the UK included all patients undergoing any surgery below the elbow at the peak of the UK pandemic. The primary outcome measure was 30-day postoperative mortality and was assessed in all enrolled patients. The secondary outcomes were SARS-CoV-2 complication rates and overall complication rates. A clinician survey relating to SARS-CoV-2 safety processes was carried out for each participating centre. RESULTS: This analysis includes 1093 patients who underwent upper limb surgery from the 1 to 14 April 2020 inclusively. The overall 30-day mortality was 0.09% (1 pre-existing SARS-CoV-2 pneumonia) and the mortality of day case surgery was zero. Most centres (96%) screened patients for symptoms prior to admission, only 22% routinely tested for SARS-CoV-2 prior to admission. The SARS-CoV-2 complication rate was 0.18% (2 pneumonias) and the overall complication rate was 6.6% (72 patients). Both SARS-CoV-2-related complications occurred in patients who had been hospitalised for a prolonged period before their surgery and a total of 19 patients (1.7%) were SARS-CoV-2 positive. CONCLUSIONS: The SARS-CoV-2-related complication rate for upper limb surgery even at the peak of the UK pandemic was low at 0.18% and the mortality was zero for patients admitted on the day of surgery. Urgent surgery should not be delayed pending the results of SARS-CoV-2 testing. Routine SARS-CoV-2 testing for day case upper limb surgery not requiring general anaesthesia may be excessive and have unintended negative impacts.


Assuntos
COVID-19/complicações , Complicações Pós-Operatórias , Procedimentos Cirúrgicos Operatórios/mortalidade , Extremidade Superior/cirurgia , Adulto , Teste para COVID-19 , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Segurança do Paciente , Equipamento de Proteção Individual , Reino Unido/epidemiologia
17.
J Clin Neurosci ; 80: 162-168, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33099341

RESUMO

Optic nerve sheath meningiomas (ONSMs) are rare, benign neoplasms of the anterior visual pathway. The optimal modality of radiotherapy for treatment has not yet been established. This is the first study to show significant difference in visual outcomes between radiotherapy subtypes in the management of ONSM. We performed a retrospective analysis of visual outcomes and side effects in ONSM patients treated with radiotherapy at three centres in Sydney, Australia, between 2000 and 2016. 15 patients with ONSM were included, and visual outcomes (visual acuity, visual fields, colour vision, OCT retinal nerve fibre layer thickness and radiological tumour response) and treatment toxicities were assessed. Pooled data analysis of available studies was also performed. Statistical analysis was performed with binomial, two-tailed chi-squared tests and Fisher exact tests. In our cohort a significant majority experienced improved visual field (p = 0.046), stable or improved visual acuity (p = 0.0017) and colour vision (p = 0.015) after fractionated radiotherapy. Pooled analysis with strict inclusion criteria found 3D conformal radiotherapy to offer significantly poorer visual acuity compared to fractionated stereotactic radiotherapy (p = 0.008). When all published studies were included, stereotactic radiosurgery was superior to 3D conformal methods (p = 0.035), and equivalent to other fractionated methods. 3D conformal methods also had significantly higher rates of long-term side effects. These results support the use of fractionated radiotherapy and radiosurgery for ONSM treatment, however 3D conformal methods cannot be recommended.


Assuntos
Neoplasias Meníngeas/radioterapia , Meningioma/radioterapia , Neoplasias do Nervo Óptico/radioterapia , Radioterapia/métodos , Adulto , Austrália , Análise de Dados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
18.
Scand J Med Sci Sports ; 30(10): 1985-1991, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32562293

RESUMO

BACKGROUND: Osgood Schlatter disease (OSD) is the most common knee condition in adolescent athletes aged 9-16. Without evidence to guide clinical practice, it is unclear how OSD is managed. The aim of this study was to investigate how international healthcare professionals (general practitioners, physiotherapists, rheumatologists, sports and exercise medicine doctors, and orthopedic surgeons) diagnose and manage OSD. METHODS: This mixed-method study used a convergent parallel design. A quantitative questionnaire and semi-structured interview covered prognosis, diagnosis, treatment, and return to play of adolescents with OSD. For quantitative data, those who reported likely/very likely considered "for" and unlikely/very unlikely "against" (for specific diagnostic/management strategy). Qualitative data analysis used a phenomenological approach. RESULTS: Two hundred and fifty-one healthcare professionals completed the questionnaire. The most common diagnostic criterion was pain at the tibial tuberosity (97% for). The most common treatments were patient education (99%) and exercise therapy (92%). Other treatment options were more heterogeneous, for example, pain medication (31% for and 34% against). Managing training load (97%), pain intensity (87%), and psychological factors (86%) were considered the most important factors influencing the return to activities. Several themes emerged from the interviews (on N = 20) including imaging, pain management, family, and psychosocial factors influencing prognosis. CONCLUSION: Diagnosis criteria of OSD were relatively well agreed upon, whereas the triangulation of qualitative and quantitative data showed heterogeneity of treatments. Psychosocial factors including family were highlighted as critical in the management of OSD.


Assuntos
Articulação do Joelho , Osteocondrose/diagnóstico , Osteocondrose/terapia , Adolescente , Analgésicos/uso terapêutico , Artralgia/diagnóstico , Artralgia/psicologia , Artralgia/terapia , Estudos Transversais , Terapia por Exercício/estatística & dados numéricos , Família , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Humanos , Internacionalidade , Osteocondrose/psicologia , Medição da Dor/métodos , Educação de Pacientes como Assunto/estatística & dados numéricos , Prognóstico , Pesquisa Qualitativa , Volta ao Esporte/psicologia
19.
Bone Joint J ; 102-B(5): 600-605, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32349588

RESUMO

AIMS: Base of thumb osteoarthritis (BTOA) is a common age-related disease which has a significant negative impact upon quality of life. Our aim was to assess current UK practice in secondary care with regard to the nature of non-surgical treatments, the surgical procedures most commonly performed, and factors influencing the surgical decision-making process. METHODS: Ten consecutive patients undergoing surgery for BTOA between March 2017 and May 2019 were prospectively identified in 15 UK centres. Demographic details, duration of symptoms, radiological grade, non-surgical management strategies, and surgery conducted were recorded. A supplementary consultant questionnaire consisting of four multiple-choice-questions (MCQ) based on hypothetical clinical scenarios was distributed. RESULTS: A total of 150 patients were identified with a mean age of 64 years (SD 9), comprising 119 females and 31 males. Median duration of symptoms prior to surgery was 24 months (Interquartile range (IQR) 12 to 40). Hand therapy was used in 67 patients (45%), splints in 80 (53%), and 121 patients (81%) received one or more intra-articular injections, of which 81 (67%) were image-guided (14 (12%) ultrasound and 67 (55%) fluoroscopic). Only 48 patients (32%) received all three non-surgical treatments. Simple trapeziectomy (79 patients) and trapeziectomy with ligament reconstruction and/or tendon interposition (69 patients) were the most commonly performed operations. One patient was treated with arthrodesis, and one with arthroplasty. The supplementary questionnaire revealed that no specific patient or disease characteristics significantly influenced the type of surgery undertaken. CONCLUSION: We found considerable variation in practice of both non-surgical and surgical management of BTOA. The proportion of patients exhausting non-surgical strategies before being offered surgery is low. Surgeons tend to favour a single type of surgery irrespective of patient or disease characteristics. Cite this article: Bone Joint J 2020;102-B(5):600-605.


Assuntos
Articulação da Mão , Osteoartrite/terapia , Padrões de Prática Médica/estatística & dados numéricos , Polegar , Tomada de Decisões , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Qualidade de Vida , Inquéritos e Questionários , Reino Unido
20.
J Clin Endocrinol Metab ; 105(3)2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-31825489

RESUMO

CONTEXT: P450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD cases. OBJECTIVE: To determine, based on the cohort of reported PORD cases, genotype-phenotype relationships for skeletal malformations, maternal virilisation in pregnancy, adrenal insufficiency, and disorders of sexual development (DSD). DATA SOURCES: PubMed and Web of Science from January 2004 to February 2018. STUDY SELECTION: Published case reports/series of patients with PORD. Eligible patients were unique, had biallelic mutations, and their clinical features were reported. DATA EXTRACTION: Patient data were manually extracted from the text of case reports/series. A malformation score, representing the severity of skeletal malformations, was calculated for each patient. DATA SYNTHESIS: Of the 211 patients published in the literature, 90 were eligible for inclusion. More than 60 unique mutations were identified in this cohort. Four groups of mutations were identified, through regression modeling, as having significantly different skeletal malformation scores. Maternal virilization in pregnancy, reported for 21% of patients, was most common for R457H mutations. Adrenal insufficiency occurred for the majority of patients (78%) and was typically mild, with homozygous R457H mutations being the least deficient. DSD affected most patients (72%), but were less common for males (46XY) with homozygous R457H mutations. CONCLUSIONS: PORD is a complex disorder with many possible mutations affecting a large number of enzymes. By analyzing the cohort of reported PORD cases, this study identified clear relationships between genotype and several important phenotypic features.


Assuntos
Insuficiência Adrenal/genética , Fenótipo de Síndrome de Antley-Bixler/genética , Anormalidades Musculoesqueléticas/genética , Insuficiência Adrenal/patologia , Fenótipo de Síndrome de Antley-Bixler/patologia , Feminino , Genótipo , Humanos , Masculino , Anormalidades Musculoesqueléticas/patologia , Mutação , Fenótipo
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