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2.
BMC Med Genomics ; 16(1): 36, 2023 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-36855133

RESUMO

BACKGROUND: The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated for classifying missense variants, in-frame insertions/deletions (indels) have been much less well studied. METHODS: We created a dataset of 3964 small (< 100 bp) indels predicted to result in in-frame amino acid insertions or deletions using data from gnomAD v3.1 (minor allele frequency of 1-5%), ClinVar and the Deciphering Developmental Disorders (DDD) study. We used this dataset to evaluate the performance of nine pathogenicity predictor tools: CADD, CAPICE, FATHMM-indel, MutPred-Indel, MutationTaster2021, PROVEAN, SIFT-indel, VEST-indel and VVP. RESULTS: Our dataset consisted of 2224 benign/likely benign and 1740 pathogenic/likely pathogenic variants from gnomAD (n = 809), ClinVar (n = 2882) and, DDD (n = 273). We were able to generate scores across all tools for 91% of the variants, with areas under the ROC curve (AUC) of 0.81-0.96 based on the published recommended thresholds. To avoid biases caused by inclusion of our dataset in the tools' training data, we also evaluated just DDD variants not present in either gnomAD or ClinVar (70 pathogenic and 81 benign). Using this subset, the AUC of all tools decreased substantially to 0.64-0.87. Several of the tools performed similarly however, VEST-indel had the highest AUCs of 0.93 (full dataset) and 0.87 (DDD subset). CONCLUSIONS: Algorithms designed for predicting the pathogenicity of in-frame indels perform well enough to aid clinical variant classification in a similar manner to missense prediction tools.


Assuntos
Algoritmos , Aminoácidos , Virulência , Área Sob a Curva , Frequência do Gene
3.
Knee ; 24(4): 808-815, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28442184

RESUMO

AIMS: Pigmented villonodular synovitis (PVNS) is a rare, locally aggressive and potentially recurrent synovial disease. We present the largest single-centre experience of knee PVNS. Our aim was to evaluate our tertiary hospital's experience in the management of knee PVNS. PATIENTS AND METHODS: Retrospective data collection of consecutive cases of knee PVNS from 2002 to 2015. RESULTS: In total, 214 cases of knee PVNS were identified which represented 53.4% of all PVNS (12.1% were recurrent at presentation). 100 were localised PVNS (LPVNS), 114 diffuse PVNS (DPVNS) and two malignant PVNS. Knee PVNS was more likely to occur in females with a mean age of 39. Following surgery, 47.6% had recurrence with DPVNS as opposed to 8.6% with LPVNS. In LPVNS, there was no significant difference in recurrence between open and arthroscopic synovectomy (8.7% vs 9.1%, P>0.05). However, in DPVNS, there was a significantly higher risk of recurrence with arthroscopic compared to open synovectomy (83.3% vs 44.8%, RR=1.86 95% CI 1.32-2.62, P=0.0004). CONCLUSION: PVNS can be difficult to treat. We found no difference in local recurrence rates between open and arthroscopic treatment of LPVNS but significantly increased rates of recurrence for DPVNS following arthroscopic treatment. We would therefore recommend open synovectomy for DPVNS.


Assuntos
Artroscopia/métodos , Sinovectomia/métodos , Sinovite Pigmentada Vilonodular/cirurgia , Adulto , Idoso , Artroscopia/efeitos adversos , Feminino , Humanos , Articulação do Joelho/patologia , Articulação do Joelho/cirurgia , Masculino , Pessoa de Meia-Idade , Recidiva , Estudos Retrospectivos , Sinovectomia/efeitos adversos , Centros de Atenção Terciária , Reino Unido
4.
Vet J ; 211: 64-9, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27056107

RESUMO

Dogs used for dogfighting often receive minimal preventive health care, and the potential for spread of infectious diseases is high. The purpose of this study was to describe the prevalence of infectious diseases in dogs rescued from fighting operations to guide medical protocols for their immediate and long-term care. A total of 269 pit bull-type dogs were seized in a multi-state investigation. Fleas were present on most dogs, but few ticks were observed. Testing performed at intake included packed cell volume (PCV), serology and PCR for vector-borne pathogens, and fecal analysis. The most common infections were Babesia gibsoni (39%), 'Candidatus Mycoplasma haematoparvum' (32%), Mycoplasma haemocanis (30%), Dirofilaria immitis (12%), and Ancylostoma (23%). Anemia was associated with B. gibsoni infection (63% of infected dogs, odds ratio = 2.5, P <0.001), but not with hemotropic mycoplasmas or Ancylostoma. Pit bull heritage and dogfighting are known risk factors for B. gibsoni infection, possibly via blood transmission from bites and vertical transmission. Hemotropic mycoplasmas have a similar risk pattern. Empirical care for dogs from dogfighting cases should include broad-spectrum internal and external parasiticides and monitoring for anemia. Dogfighting case responders should be prepared for mass screening and treatment of B. gibsoni and heartworm infections and should implement protocols to prevent transmission of infectious and zoonotic diseases in the shelter and following adoption. Former fighting dogs and dogs with possible dog bite scars should not be used as blood donors due to the risk of vector-borne pathogens that can escape detection and for which curative treatment is difficult to document.


Assuntos
Doenças Transmissíveis/veterinária , Doenças do Cão/epidemiologia , Animais , Doenças Transmissíveis/epidemiologia , Doenças Transmissíveis/microbiologia , Doenças Transmissíveis/parasitologia , Doenças do Cão/microbiologia , Doenças do Cão/parasitologia , Cães , Fezes/microbiologia , Fezes/parasitologia , Feminino , Hematócrito/veterinária , Masculino , Reação em Cadeia da Polimerase/veterinária , Prevalência , Testes Sorológicos/veterinária , Sudeste dos Estados Unidos/epidemiologia , Especificidade da Espécie , Texas/epidemiologia
5.
Bone Joint J ; 97-B(9): 1183-91, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26330583

RESUMO

The long term biological effects of wear products following total hip arthroplasty (THA) are unclear. However, the indications for THA are expanding, with increasingly younger patients undergoing the procedure. This prospective, randomised study compared two groups of patients undergoing THA after being randomised to receive one of two different bearing surfaces: metal-on-polyethylene (MoP) n = 22 and metal-on-metal (MoM) n = 23. We investigated the relationship between three variables: bearing surface (MoP vs MoM), whole blood levels of chromium (Cr) and cobalt (Co) and chromosomal aberrations in peripheral lymphocyte pre-operatively and at one, two and five years post-surgery. Our results demonstrated significantly higher mean cobalt and chromium (Co and Cr) blood levels in the MoM group at all follow-up points following surgery (p < 0.01), but there were no significant differences in the chromosomal aberration indices between MoM and MoP at two or five years (two years: p = 0.56, p = 0.08, p = 0.91, p = 0.51 and five years: p = 0.086, p = 0.73, p = 0.06, p = 0.34) for translocations, breaks, loss and gain of chromosomes respectively. Regression analysis showed a strong linear relationship between Cr levels and the total chromosomal aberration indices in the MoM group (R(2) = 0.90016), but this was not as strong for Co (R(2) = 0.68991). In the MoP group, the analysis revealed a poor relationship between Cr levels and the total chromosomal aberration indices (R(2) = 0.23908) but a slightly stronger relationship for Co (R(2) = 0.64292). Across both groups, Spearman's correlation detected no overall association between Co and Cr levels and each of the studied chromosomal aberrations. There remains no clear indication which THA bearing couple is the most biocompatible, especially in young active patients. While THA continues to be very successful at alleviating pain and restoring function, the long-term biological implications of the procedure still require further scrutiny.


Assuntos
Artroplastia de Quadril/instrumentação , Cromo/sangue , Aberrações Cromossômicas , Cobalto/sangue , Prótese de Quadril/efeitos adversos , Próteses Articulares Metal-Metal/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Artroplastia de Quadril/efeitos adversos , Cromo/farmacologia , Cobalto/farmacologia , Feminino , Humanos , Linfócitos/efeitos dos fármacos , Masculino , Pessoa de Meia-Idade , Polietileno , Período Pós-Operatório , Desenho de Prótese
6.
J Perinatol ; 34(11): 873-4, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25359413

RESUMO

Intrauterine infection with herpes simplex virus, although very rare, has devastating effects on multiple organ systems in the fetus and can lead to in utero fetal demise. Neonates born following intrauterine herpes simplex virus infection commonly manifest with cutaneous lesions, ocular damage and/or brain abnormalities. We describe the case of a dichorionic, diamniotic twin gestation complicated by intrauterine herpes simplex virus infection. This infection led to the fetal demise of twin A and a very uncommon presentation of limb hypoplasia in twin B.


Assuntos
Braço/anormalidades , Doenças em Gêmeos/congênito , Herpes Simples/complicações , Herpesvirus Humano 2 , Complicações Infecciosas na Gravidez , Deformidades Congênitas das Extremidades Superiores/virologia , Corioamnionite/virologia , Doenças em Gêmeos/virologia , Feminino , Morte Fetal , Retardo do Crescimento Fetal , Humanos , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Lactente Extremamente Prematuro , Recém-Nascido , Gravidez , Resultado da Gravidez , Adulto Jovem
7.
Bone Joint J ; 96-B(2): 263-9, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24493195

RESUMO

We reviewed the outcome of 69 uncemented, custom-made, distal femoral endoprosthetic replacements performed in 69 patients between 1994 and 2006. There were 31 women and 38 men with a mean age at implantation of 16.5 years (5 to 37). All procedures were performed for primary malignant bone tumours of the distal femur. At a mean follow-up of 124.2 months (4 to 212), 53 patients were alive, with one patient lost to follow-up. All nine implants (13.0%) were revised due to aseptic loosening at a mean of 52 months (8 to 91); three implants (4.3%) were revised due to fracture of the shaft of the prosthesis and three patients (4.3%) had a peri-prosthetic fracture. Bone remodelling associated with periosteal cortical thinning adjacent to the uncemented intramedullary stem was seen in 24 patients but this did not predispose to failure. All aseptically loose implants in this series were diagnosed to be loose within the first five years. The results from this study suggest that custom-made uncemented distal femur replacements have a higher rate of aseptic loosening compared to published results for this design when used with cemented fixation. Loosening of uncemented replacements occurs early indicating that initial fixation of the implant is crucial.


Assuntos
Materiais Revestidos Biocompatíveis , Durapatita , Neoplasias Femorais/cirurgia , Previsões , Implantação de Prótese/métodos , Adolescente , Adulto , Cimentos Ósseos , Criança , Pré-Escolar , Feminino , Neoplasias Femorais/diagnóstico por imagem , Neoplasias Femorais/mortalidade , Seguimentos , Humanos , Masculino , Desenho de Prótese , Radiografia , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Resultado do Tratamento , Reino Unido/epidemiologia , Adulto Jovem
8.
Plant Dis ; 98(11): 1593, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30699810

RESUMO

A legume survey in Story County was conducted to characterize legume viruses present in Iowa and potentially problematic to soybeans. Symptomatic (chlorosis, leaf curl, or vein banding) and non-symptomic leaves were selected from Apios americana, Cyamopsis tetragonolobus, Desmodium spp., Glycine max, Lablab purpureus, Lotus japonicus, Phaseolus coccineus, Phaseolus vulgaris, Vicia faba, Vigna ungulculata, and Chenopodium quinoa (an indicator species), and sent to Agdia Inc. for their Crop Screen: "Bean (Soybean)" tests. Cowpea mosaic virus (in L. purpureus), Southern bean mosaic virus (in A. americana), Soybean dwarf virus (in L. purpureus), and Tobacco streak virus (in Desmodium spp.) were identified. In addition, P. vulgaris was found positive in the serological Potyvirus group test, and was further characterized using reverse transcription (RT)-PCR using total RNA (Qiagen RNeasy extraction kit) from symptomatic leaves. A ~1-kb fragment of virus genome was amplified using degenerate primers, forward: 5' TGYGTNGAYGAYYTYAAYAA 3' (3) and reverse: 5' TCRTARAARTCRAAIGCRTAICKIG 3' (2). The closest GenBank BLAST hits for the sequence were BCMV strain NL1 (GenBank Accession No. AY112735) and BCMV MS1 (EU761198), both at 97% identity. RNA sequencing using an Illumina HiSeq 2500 (100 base paired ends) allowed construction of a nearly complete viral sequence from positions 38 to 10,037 nt (KM023744). This showed 99% similarity to BCMV-NL1 (AY112735) and 98% similarity to BCMV MS1 (EU761198). The BCMV isolate was recovered on the P. vulgaris cv. Taos Red and tested against a panel of Phaseolus, Glycine, and other hosts. Symptomatic hosts (vein-banding, mosaic, stunting, and leaf curl) were P. vulgaris cvs. Starlight, Tohono O'odham vaya Amarillo, Black Valentine Stringless, Sutter Pink, Hidatsa red, Stringless Green Refugee, Burpees Stringless Improved Bush, Princess d'Artois, Princess Double de Holland, and Dubelle Witte. Asymptomatic hosts included P. vulgaris cvs. Sierra, Great Northern Tara, Tara, and Vigna radiata. Non-host plants were P. vulgaris cvs. Michelite 62, Great Northern UI 31, Great Northern UI 123, Pure Gold Wax, Top Crop, Redlands Greanleaf B, Red Mexican UI 34, Imuna, Monroe, Pinto UI 114, Widusa, Othello, Sacramento, Red Kidney, Provider, Black Turtle Soup, Victor, and Witte boon, G. max cv. Williams, Cucumis sativus cv. Straight 8, Solanum lycopericum cv. Reine des Hatives, Vicia faba, Pisum sativum var. macrocarpon, V. unguiculata, and A. americana. The host range of the BCMV isolate on common bean differential species concurred with pathogenicity group I (1) and agreed with assignment as strain NL1. To our knowledge, this is the first complete characterization of a pathotype I strain NL1 of BCMV in the United States, combining biological typing and whole genome sequencing. References: (1) R. E. Klein et al. Plant Dis. 76:1263, 1992. (2) H. Yamamoto et al. J. Gen. Plant Pathol. 74:97, 2008. (3) L. Zheng et al. PLoS One 3:e1586, 2008.

9.
Ortop Traumatol Rehabil ; 15(5): 495-9, 2013 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-24431259

RESUMO

BACKGROUND. Tumoral calcinosis is a poorly understood phenomenon. It can be described as a syndrome of calcium deposits principally affecting the juxta-articular areas. It is a rare entity that has been poorly understood. Our aim is to highlight a special and unusual case of an 11-year-old with a large, relatively painless lump in her buttock. CLINICAL CASE. An 11-year-old girl of African descent presented to our Bone Tumour Unit after being referred by her local hospital. The girl presented with a large lump on the posterolateral aspect of the right buttock, measuring 15cm in diameter. Due to the delay in referral/diagnosis, tethering of the skin had progressed to necrosis, with a sinus discharging milky-white fluid. A MRI scan further characterised the lump as a densely calcified area within the gluteus maximus, extending to the subcutaneous tissue. The characteristic features of the calcified mass on the images led to the diagnosis of tumoral calcinosis. Laboratory test did not demonstrate any metabolic disturbances. Pathology reports further confirmed the diagnosis and the lump was successfully resected. There were no recurrences on follow-up. CONCLUSION. Several cases of tumoral calcinosis have been described in the literature; however, it remains a rare entity. Being aware of the possibility and having knowledge of tumoral calcinosis is paramount in preventing confusion and delay in diagnosis for patients and clinicians.


Assuntos
Nádegas/patologia , Nádegas/cirurgia , Calcinose/patologia , Calcinose/cirurgia , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , Procedimentos Ortopédicos/métodos
10.
Eur J Surg Oncol ; 38(8): 700-5, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22464107

RESUMO

PURPOSE: To review the outcomes of patients with extra-abdominal fibromatosis treated at a tertiary referral centre. METHODS: A retrospective review of a series of 72 patients with fibromatosis treated at the Royal National Orthopaedic Hospital (RNOH) between 1980 and 2009, with a median follow up of 4 years (1-17 years). RESULTS: Forty patients were primary referrals, and 32 more had operations at the referring hospital. Five were treated non-operatively; 48 patients were treated by operation alone and 19 patients underwent surgery supplemented by adjuvant therapy. Recurrence was seen in 24 of the operation alone group and 10 in the operation and adjuvant therapy group. The rate of recurrence was lower with complete excision. However, complete excision was impossible in some cases because of extension into the chest or spinal canal, or involvement with the axial vessels and lumbosacral or brachial plexus. CONCLUSION: We suggest that operative excision should seek to preserve function and that supplementary adjuvant therapy may reduce the risk of recurrence, although excision margin appears to be the most important factor. The aggressive, infiltrative behaviour of deep fibromatoses and the associated genetic mutations identified, clearly distinguish them from the superficial fibromatoses and makes their treatment more difficult and dangerous, especially where vital structures are involved.


Assuntos
Fibromatose Abdominal/cirurgia , Fibromatose Agressiva/cirurgia , Recidiva Local de Neoplasia/terapia , Adulto , Idoso , Biópsia por Agulha , Feminino , Fibromatose Abdominal/diagnóstico , Fibromatose Abdominal/epidemiologia , Fibromatose Agressiva/diagnóstico , Fibromatose Agressiva/epidemiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Radioterapia Adjuvante , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Fatores de Tempo , Resultado do Tratamento , Reino Unido/epidemiologia
11.
J Bone Joint Surg Br ; 94(3): 339-43, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22371540

RESUMO

Patients with skeletal dysplasia are prone to developing advanced osteoarthritis of the knee requiring total knee replacement (TKR) at a younger age than the general population. TKR in this unique group of patients is a technically demanding procedure owing to the deformity, flexion contracture, generalised hypotonia and ligamentous laxity. We retrospectively reviewed the outcome of 11 TKRs performed in eight patients with skeletal dysplasia at our institution using the Stanmore Modular Individualised Lower Extremity System (SMILES) custom-made rotating-hinge TKR. There were three men and five women with mean age of 57 years (41 to 79). Patients were followed clinically and radiologically for a mean of seven years (3 to 11.5). The mean Knee Society clinical and function scores improved from 24 (14 to 36) and 20 (5 to 40) pre-operatively, respectively, to 68 (28 to 80) and 50 (22 to 74), respectively, at final follow-up. Four complications were recorded, including a patellar fracture following a fall, a tibial peri-prosthetic fracture, persistent anterior knee pain, and aseptic loosening of a femoral component requiring revision. Our results demonstrate that custom primary rotating-hinge TKR in patients with skeletal dysplasia is effective at relieving pain, with a satisfactory range of movement and improved function. It compensates for bony deformity and ligament deficiency and reduces the likelihood of corrective osteotomy. Patellofemoral joint complications are frequent and functional outcome is worse than with primary TKR in the general population.


Assuntos
Artroplastia do Joelho/métodos , Doenças do Desenvolvimento Ósseo/complicações , Prótese do Joelho , Osteoartrite do Joelho/cirurgia , Adulto , Idoso , Artroplastia do Joelho/efeitos adversos , Artroplastia do Joelho/instrumentação , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Desenho Assistido por Computador , Feminino , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/fisiopatologia , Articulação do Joelho/cirurgia , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/diagnóstico por imagem , Osteoartrite do Joelho/etiologia , Desenho de Prótese , Radiografia , Amplitude de Movimento Articular , Recuperação de Função Fisiológica , Estudos Retrospectivos , Resultado do Tratamento
12.
J Bone Joint Surg Br ; 94(3): 425-30, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22371554

RESUMO

In skeletally immature patients, resection of bone tumours and reconstruction of the lower limb often results in leg-length discrepancy. The Stanmore non-invasive extendible endoprosthesis, which uses electromagnetic induction, allows post-operative lengthening without anaesthesia. Between 2002 and 2009, 55 children with a mean age of 11.4 years (5 to 16) underwent reconstruction with this prosthesis; ten patients (18.2%) died of disseminated disease and one child underwent amputation due to infection. We reviewed 44 patients after a mean follow-up of 41.2 months (22 to 104). The mean Musculoskeletal Tumor Society score was 24.7 (8 to 30) and the Toronto Extremity Salvage score was 92.3% (55.2% to 99.0%). There was no local recurrence of tumour. Complications developed in 16 patients (29.1%) and ten (18.2%) underwent revision. The mean length gained per patient was 38.6 mm (3.5 to 161.5), requiring a mean of 11.3 extensions (1 to 40), and ten component exchanges were performed in nine patients (16.4%) after attaining the maximum lengthening capacity of the implant. There were 11 patients (20%) who were skeletally mature at follow-up, ten of whom had equal leg lengths and nine had a full range of movement of the hip and knee. This is the largest reported series using non-invasive extendible endoprostheses after excision of primary bone tumours in skeletally immature patients. The technique produces a good functional outcome, with prevention of limb-length discrepancy at skeletal maturity.


Assuntos
Alongamento Ósseo/instrumentação , Neoplasias Ósseas/cirurgia , Extremidade Inferior/cirurgia , Próteses e Implantes , Adolescente , Alongamento Ósseo/métodos , Criança , Pré-Escolar , Feminino , Fêmur/diagnóstico por imagem , Fêmur/cirurgia , Seguimentos , Crescimento , Humanos , Articulação do Joelho/fisiopatologia , Desigualdade de Membros Inferiores/etiologia , Desigualdade de Membros Inferiores/prevenção & controle , Salvamento de Membro/métodos , Masculino , Desenho de Prótese , Implantação de Prótese/efeitos adversos , Implantação de Prótese/métodos , Radiografia , Amplitude de Movimento Articular , Reoperação/métodos , Tíbia/diagnóstico por imagem , Tíbia/cirurgia , Resultado do Tratamento
13.
Knee Surg Sports Traumatol Arthrosc ; 20(12): 2476-9, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22349542

RESUMO

We report a unique case of a patient with type 2 congenital tibial deficiency and disabling knee osteoarthritis in whom a custom-made rotating hinge knee replacement was successfully performed, allowing continued mobilisation with a below-knee prosthesis, thereby avoiding the need for an above-knee amputation. Level of evidence Therapeutic study, Level IV.


Assuntos
Artroplastia do Joelho/instrumentação , Articulação do Joelho/cirurgia , Prótese do Joelho , Deformidades Congênitas das Extremidades Inferiores/cirurgia , Osteoartrite do Joelho/cirurgia , Tíbia/anormalidades , Idoso , Amputação Cirúrgica , Artroplastia do Joelho/métodos , Feminino , Humanos , Resultado do Tratamento
14.
J Bone Joint Surg Br ; 93(8): 1111-7, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21768638

RESUMO

The best method of reconstruction after resection of malignant tumours of the tibial diaphysis is unknown. In the absence of any long-term studies analysing the results of intercalary endoprosthetic replacement, we present a retrospective review of 18 patients who underwent limb salvage using a tibial diaphyseal endoprosthetic replacement following excision of a malignant bone tumour. There were ten men and eight women with a mean age of 42.5 years (16 to 76). Mean follow-up was 58.5 months (20 to 141) for all patients and 69.3 months (20 to 141) for the 12 patients still alive. Cumulative patient survival was 59% (95% confidence interval (CI) 32 to 84) at five years. Implant survival was 63% (95% CI 35 to 90) at ten years. Four patients required revision to a proximal tibial replacement at a mean follow-up of 29 months (10 to 54). Complications included metastases in five patients, aseptic loosening in four, peri-prosthetic fracture in two, infection in one and local recurrence in one. The mean Musculoskeletal Tumor Society score and the mean Toronto Extremity Salvage Score were 23 (17 to 28) and 74% (53 to 91), respectively. Although rates of complication and revision were high, custom-made tibial diaphyseal replacement following resection of malignant bone tumours enables early return to function and provides an attractive alternative to other surgical options, without apparent compromise of patient survival.


Assuntos
Membros Artificiais , Neoplasias Ósseas/cirurgia , Tíbia/cirurgia , Adolescente , Adulto , Idoso , Desenho Assistido por Computador , Diáfises/cirurgia , Métodos Epidemiológicos , Feminino , Humanos , Salvamento de Membro/métodos , Masculino , Pessoa de Meia-Idade , Fraturas Periprotéticas/etiologia , Desenho de Prótese , Falha de Prótese , Implantação de Prótese/métodos , Radiografia , Reoperação , Tíbia/diagnóstico por imagem , Resultado do Tratamento , Adulto Jovem
15.
J Bone Joint Surg Br ; 93(3): 399-403, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21357964

RESUMO

Between 1997 and 2007, 68 consecutive patients underwent replacement of the proximal humerus for tumour using a fixed-fulcrum massive endoprosthesis. Their mean age was 46 years (7 to 87). Ten patients were lost to follow-up and 16 patients died. The 42 surviving patients were assessed using the Musculoskeletal Tumor Society (MSTS) Score and the Toronto Extremity Salvage Score (TESS) at a mean follow-up of five years and 11 months (one year to ten years and nine months). The mean MSTS score was 72.3% (53.3% to 100%) and the mean TESS was 77.2% (58.6% to 100%). Four of 42 patients received a new constrained humeral liner to reduce the risk of dislocation. This subgroup had a mean MSTS score of 77.7% and a mean TESS of 80.0%. The dislocation rate for the original prosthesis was 25.9; none of the patients with the new liner had a dislocation at a mean of 14.5 months (12 to 18). Endoprosthetic replacement for tumours of the proximal humerus using this prosthesis is a reliable operation yielding good results without the documented problems of unconstrained prostheses. The performance of this prosthesis is expected to improve further with a new constrained humeral liner, which reduces the risk of dislocation.


Assuntos
Neoplasias Ósseas/cirurgia , Úmero/cirurgia , Prótese Articular , Articulação do Ombro/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Artroplastia de Substituição/métodos , Neoplasias Ósseas/patologia , Criança , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Desenho de Prótese , Resultado do Tratamento , Adulto Jovem
16.
J Bone Joint Surg Br ; 92(12): 1685-9, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21119175

RESUMO

We have reviewed five adult patients treated with endoprosthetic reconstruction of the proximal radius following resection of non-traumatic lesions. The patients had a mean age of 33.4 years (20 to 60) at the time of surgery and the mean follow-up was 7.6 years (0.8 to 16). Following surgery, all elbows were clinically stable and there was 100% survivorship of the prosthesis. Evaluation of function was assessed clinically and by the Mayo Elbow Performance Score, achieving a mean of 86% (70 to 100). Results at medium-term follow-up are encouraging with regards to elbow stability, implant survivorship and functional outcome.


Assuntos
Neoplasias Ósseas/cirurgia , Próteses e Implantes , Rádio (Anatomia)/cirurgia , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Articulação do Cotovelo/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Desenho de Prótese , Implantação de Prótese/efeitos adversos , Implantação de Prótese/métodos , Radiografia , Rádio (Anatomia)/diagnóstico por imagem , Amplitude de Movimento Articular , Titânio , Resultado do Tratamento , Articulação do Punho/fisiopatologia , Adulto Jovem
17.
J Dairy Sci ; 93(10): 4744-58, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20855009

RESUMO

Fermentable fibers such as psyllium increase volatile fatty acid (VFA) concentrations in the lower digestive tract and increase the gastrointestinal tract (GIT) mass of many mammals. We reasoned that psyllium inclusion in milk replacer might produce similar effects in neonatal dairy calves, which could lead to improved growth and health. Male Holstein calves were fed a milk replacer (22% crude protein, 20% fat) either without or with psyllium (1.1% of dry matter, DM) from 2 d through 28 d of age. Milk replacer was reconstituted to 12.5% DM and fed at 12% of calf body weight, adjusted weekly. Water was offered ad libitum but no starter was fed. Three calves per treatment were harvested weekly to sample digesta from the reticulo-rumen, abomasum, jejunum, proximal colon, and distal colon, and to determine length and mass of GIT components. Psyllium in milk replacer increased the proportion of butyrate in reticulo-rumen contents from 2.4 to 3.2% of total but did not affect total VFA concentrations. Total VFA concentrations were very low in the jejunum but psyllium tended to increase total VFA, acetate, and valerate concentrations; valerate accounted for 15.9 and 16.7% of total VFA (molar basis) for control and psyllium calves, respectively. Psyllium increased total VFA concentrations in the proximal and distal colon by 104.4 and 45.6%, respectively, but had little effect on the profile of VFA. Psyllium in milk replacer increased populations of bifidobacteria (from 9.7 to 10.3 log(10) cfu/g of DM) and lactobacilli (from 8.2 to 9.4 log(10) cfu/g of DM) in the reticulo-rumen, but did not affect populations in jejunum or colon. Calves fed psyllium had 12.0% greater total GIT mass and 9.4% greater GIT as a percentage of body weight. Psyllium tended to increase mass of the reticulo-rumen and significantly increased mass of duodenum (34.2%), jejunum (14.5%), and colon (14.6%). Density of intestinal tissues from calves fed psyllium-supplemented milk replacer was 25.9% greater in the jejunum and 25.3% greater in the ileum, and tended to be greater in duodenum and colon than tissue from control calves. Supplementation of psyllium to milk replacer increased fermentation in the colon, mass of the total GIT, and populations of bifidobacteria and lactobacilli in the reticulo-rumen.


Assuntos
Ração Animal , Bovinos/metabolismo , Ácidos Graxos Voláteis/metabolismo , Trato Gastrointestinal/crescimento & desenvolvimento , Trato Gastrointestinal/microbiologia , Substitutos do Leite/química , Psyllium/administração & dosagem , Fenômenos Fisiológicos da Nutrição Animal , Animais , Animais Recém-Nascidos , Bovinos/crescimento & desenvolvimento , Bovinos/microbiologia , Contagem de Colônia Microbiana , Fermentação , Masculino , Psyllium/metabolismo
18.
J Bone Joint Surg Br ; 92(8): 1134-7, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20675760

RESUMO

Disarticulation of the hip in patients with high-grade tumours in the upper thigh results in significant morbidity. In patients with no disease of the proximal soft tissue a femoral stump may be preserved, leaving a fulcrum for movement and weight-bearing. We reviewed nine patients in whom the oncological decision would normally be to disarticulate, but who were treated by implantation of an endoprosthesis in order to create a functioning femoral stump. The surgery was undertaken for chondrosarcoma in four patients, pleomorphic sarcoma in three, osteosarcoma in one and fibrous dysplasia in one. At follow-up at a mean of 80 months (34 to 132), seven patients were alive and free from disease, one had died from lung metastases and another from a myocardial infarction. The mean functional outcome assessment was 50 (musculoskeletal tumor society), 50 and 60 (physical and mental Short-form 36 scores). Implantation of an endoprosthesis into the stump in carefully selected patients allows fitting of an above-knee prosthesis and improves wellbeing and the functional outcome.


Assuntos
Cotos de Amputação , Neoplasias Femorais/cirurgia , Próteses e Implantes , Sarcoma/cirurgia , Adolescente , Adulto , Idoso , Amputação Cirúrgica/métodos , Terapia Combinada , Desarticulação , Feminino , Neoplasias Femorais/terapia , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Desenho de Prótese , Implantação de Prótese/métodos , Infecções Relacionadas à Prótese/etiologia , Estudos Retrospectivos , Sarcoma/terapia , Resultado do Tratamento , Adulto Jovem
19.
J Dairy Sci ; 93(8): 3652-60, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20655435

RESUMO

Based on research in other species, inclusion of psyllium in milk replacer might improve nutrient utilization and gastrointestinal function in neonatal calves. Male Holstein calves were fed a milk replacer (22% crude protein, 20% fat) either without or with psyllium (1.1% of dry matter) from 2 d through 28 d of age. Milk replacer was reconstituted to 12.5% dry matter (DM) and fed at 12% of calf body weight (BW), adjusted weekly. Water was offered ad libitum but no starter was fed. Three calves per treatment were harvested weekly to sample digesta from the rumen, abomasum, jejunum, proximal colon, and distal colon. Mean daily intakes of water, DM, crude protein, and metabolizable energy did not differ between treatments. Average daily gain of BW did not differ between treatments. Digesta from the abomasum and colon of calves fed psyllium was more viscous than digesta from control calves. Mean retention time of digesta in the total digestive tract tended to be greater for calves supplemented with psyllium (9.7 vs. 8.4h). Feces and digesta from the proximal and distal colon of calves fed psyllium had lower DM content than feces and digesta from control calves. Total-tract apparent digestibility of DM (92.8 vs. 94.1%) was lower for psyllium-fed calves, likely as an effect of the addition of the more poorly digestible psyllium; digestibilities of energy and ash also tended to be lower. The prefeeding plasma glucose concentration (10h after previous feeding) tended to be greater for psyllium-fed calves but concentrations of nonesterified fatty acids, beta-hydroxybutyrate, cholesterol, urea N, and total protein did not differ between treatments. Blood components did not differ between treatments at 2h postfeeding. Inclusion of psyllium in the milk replacer of neonatal calves increased digesta viscosity and slowed passage of digesta through the gastrointestinal tract.


Assuntos
Ração Animal , Bovinos/fisiologia , Digestão/fisiologia , Substitutos do Leite/química , Psyllium/administração & dosagem , Fenômenos Fisiológicos da Nutrição Animal , Animais , Animais Recém-Nascidos , Glicemia , Peso Corporal/fisiologia , Bovinos/sangue , Bovinos/crescimento & desenvolvimento , Fezes/química , Masculino , Viscosidade
20.
J Bone Joint Surg Br ; 92(6): 867-74, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20513887

RESUMO

Segmental resection of malignant bone disease in the femoral diaphysis with subsequent limb reconstruction is a major undertaking. This is a retrospective review of 23 patients who had undergone limb salvage by endoprosthetic replacement of the femoral diaphysis for a primary bone tumour between 1989 and 2005. There were 16 males and seven females, with a mean age of 41.3 years (10 to 68). The mean overall follow-up was for 97 months (3 to 240), and 120 months (42 to 240) for the living patients. The cumulative patient survival was 77% (95% confidence interval 63% to 95%) at ten years. Survival of the implant, with failure of the endoprosthesis as an endpoint, was 85% at five years and 68% (95% confidence interval 42% to 92%) at ten years. The revision rate was 22% and the overall rate of re-operation was 26%. Complications included deep infection (4%), breakage of the prosthesis (8%), periprosthetic fracture (4%), aseptic loosening (4%), local recurrence (4%) and metastases (17%). The 16 patients who retained their diaphyseal endoprosthesis had a mean Musculoskeletal Tumour Society score of 87% (67% to 93%). They were all able to comfortably perform most activities of daily living. Femoral diaphyseal endoprosthetic replacement is a viable option for reconstruction following segmental resection of malignant bone disease. It allows immediate weight-bearing, is associated with a good long-term functional outcome, has an acceptable complication and revision rate and, most importantly, does not appear to compromise patient survival.


Assuntos
Neoplasias Femorais/cirurgia , Fêmur/cirurgia , Próteses e Implantes , Implantação de Prótese/métodos , Adolescente , Adulto , Idoso , Criança , Diáfises/cirurgia , Métodos Epidemiológicos , Feminino , Neoplasias Femorais/diagnóstico , Humanos , Salvamento de Membro/métodos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Falha de Prótese , Infecções Relacionadas à Prótese/etiologia , Reoperação/estatística & dados numéricos , Resultado do Tratamento , Adulto Jovem
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