Whole-body magnetic resonance imaging in myxoid liposarcoma: A useful adjunct for the detection of extra-pulmonary metastatic disease.

Myxoid liposarcomas (MLS) are a subgroup of soft-tissue sarcomas which have a propensity for extra-pulmonary metastases. Conventional radiological staging of soft-tissue sarcomas consists of chest radiographs (CXR) and thoracic computed tomography (CT) for possible chest metastases, supplemented by magnetic resonance imaging (MRI) for local disease. The optimal radiological modality to detect extra-pulmonary metastases for systemic staging has not been proven. We reviewed the efficacy of Whole-Body MRI (WBMRI) for this purpose. 33 WBMRI and simultaneous CT scans were performed in 28 patients suffering from MLS between 2007 and 2015. 38 metastases were identified in seven patients via WBMRI. Osseous lesions predominated (spine, pelvis, chest-wall and long bones), followed by soft-tissue and abdominal lesions. Of the 29 soft-tissue or osseous metastases that were within the field-of-view of the simultaneous CT scans, five soft-tissue and zero osseous metastases were identified using CT. Metastatic disease was detected in three patients solely using WBMRI, which directly influenced their management. WBMRI is a useful adjunct in the detection of extra-pulmonary metastatic disease, which directly alters patient management. WBMRI has demonstrated an ability to identify more sites of metastatic disease compared to CT. WBMRI should be used in two situations. Firstly, at diagnosis where ablative treatment will be required e.g. amputation, when the diagnosis of occult metastasis would change treatment planning. Secondly, at diagnosis of relapse to confirm if it is a solitary site of relapse prior to consideration of metastectomy.

The outcome of resection of the distal ulna for tumour without soft-tissue or prosthetic reconstruction.

In patients with a tumour affecting the distal ulna it is difficult to preserve the function of the wrist following extensive local resection. We report the outcome of 12 patients (nine female, three male) who underwent excision of the distal ulna without local soft-tissue reconstruction. In six patients, an aggressive benign tumour was present and six had a malignant tumour. At a mean follow-up of 64 months (15 to 132) the mean Musculoskeletal Tumour score was 64% (40% to 93%) and the mean DASH score was 35 (10 to 80). The radiological appearances were satisfactory in most patients. Local recurrence occurred in one patient with benign disease and two with malignant disease. The functional outcome was thus satisfactory at a mean follow-up in excess of five years, with a relatively low rate of complications. The authors conclude that complex reconstructive soft-tissue procedures may not be needed in these patients.

Diffuse pigmented villonodular synovitis (diffuse-type giant cell tumour) of the foot and ankle.

Pigmented villonodular synovitis (PVNS) is a rare benign disease of the synovium of joints and tendon sheaths, which may be locally aggressive. We present 18 patients with diffuse-type PVNS of the foot and ankle followed for a mean of 5.1 years (2 to 11.8). There were seven men and 11 women, with a mean age of 42 years (18 to 73). A total of 13 patients underwent open or arthroscopic synovectomy, without post-operative radiotherapy. One had surgery at the referring unit before presentation with residual tibiotalar PVNS. The four patients who were managed non-operatively remain symptomatically controlled and under clinical and radiological surveillance. At final follow-up the mean Musculoskeletal Tumour Society score was 93.8% (95% confidence interval (CI) 85 to 100), the mean Toronto Extremity Salvage Score was 92 (95% CI 82 to 100) and the mean American Academy of Orthopaedic Surgeons foot and ankle score was 89 (95% CI 79 to 100). The lesion in the patient with residual PVNS resolved radiologically without further intervention six years after surgery. Targeted synovectomy without adjuvant radiotherapy can result in excellent outcomes, without recurrence. Asymptomatic patients can be successfully managed non-operatively. This is the first series to report clinical outcome scores for patients with diffuse-type PVNS of the foot and ankle.

Five-year survival of nonagenerian patients undergoing total hip replacement in the United Kingdom.

Between January 2000 and December 2007, 31 patients 90 years of age or older underwent total hip replacement at our hospital. Their data were collected prospectively. The rate of major medical complications was 9%. The surgical re-operation rate was 3%. The requirement for blood transfusion was 71% which was much higher than for younger patients. The 30-day, one-year and current mortality figures were 6.4% (2 of 31), 9.6% (3 of 31) and 55% (17 of 31), respectively, with a mean follow-up for the 14 surviving patients of six years. Cox's regression analysis revealed no significant independent predictors of mortality. Only 52% of patients returned immediately to their normal abode, with 45% requiring a prolonged period of rehabilitation. This is the first series to assess survival five years after total hip replacement for patients in their 90th year and beyond. Hip replacement in the extreme elderly should not be discounted on the grounds of age alone, although the complication rate exceeds that for younger patients. It can be anticipated that almost half of the patients will survive five years after surgery.

One-year outcome for elderly patients with displaced intracapsular fractures of the femoral neck managed non-operatively.

The outcome of patients with a displaced intracapsular femoral neck fracture treated non-operatively was assessed at 1 year and compared with patients managed operatively over the same time period. Data were collected prospectively for 102 consecutive patients. 80 patients underwent hemiarthroplasty and 22 were managed non-operatively. Patients were managed non-operatively if they were felt to have an unacceptably high risk of death within the perioperative period despite medical optimisation. Non-operative management entailed active early mobilisation without bed rest or traction. Patients managed non-operatively had a greater 30-day mortality compared with operatively managed patients. Deaths were due to pre-existing medical conditions or events, which had occurred at the time of hip fracture. No patient in the non-operative treatment group developed pneumonia, pressure sores or thrombo-embolic events. Patients treated non-operatively, who survived 30 days after fracture, had a mortality rate over the following year comparable with those who had undergone surgery. At 1 year, all non-operatively managed patients were able to transfer without pain and 6 of the 11 surviving patients were able to mobilise with walking aids. At 1 year, the majority of surviving non-operatively managed patients were living in their own homes. Surgical intervention is the treatment of choice for the majority of elderly patients with a displaced intracapsular femoral neck fracture. However, in patients with life-threatening medical co-morbidity, non-operative treatment with early mobilisation can yield acceptable results.

The St. Leger total knee replacement: a 10-year clinical and radiological assessment.

The St. Leger total knee replacement (Zynergy Orthopaedics Ltd, Rotherham, UK) was developed as a cheaper alternative to similar implants of its time. Between October 1993 and June 1999, 144 St. Leger total knee replacements were implanted into 114 patients. Seventy-three patients (99 knees) were recalled for assessment (mean follow-up of 10.2 years). Eighteen patients had had their prostheses revised, 11 had died and 12 were lost to follow-up. Functional Score showed 90% poor results and the Objective Knee Score showed 31% poor results. Radiological assessment identified 12 arthroplasties that had failed and 58 that required close follow. Kaplan-Meier cumulative survivorship was 87% at 10 years. The St. Leger knee replacement did not perform as well as others of the same generation and was not worth the initial financial savings.

Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

Somatic mosaicism has been observed previously in the lymphocyte population of patients with Fanconi anemia (FA). To identify the cellular origin of the genotypic reversion, we examined each lymphohematopoietic and stromal cell lineage in an FA patient with a 2815-2816ins19 mutation in FANCA and known lymphocyte somatic mosaicism. DNA extracted from individually plucked peripheral blood T cell colonies and marrow colony-forming unit granulocyte-macrophage and burst-forming unit erythroid cells revealed absence of the maternal FANCA exon 29 mutation in 74.0%, 80.3%, and 86.2% of colonies, respectively. These data, together with the absence of the FANCA exon 29 mutation in Epstein-Barr virus-transformed B cells and its presence in fibroblasts, indicate that genotypic reversion, most likely because of back mutation, originated in a lymphohematopoietic stem cell and not solely in a lymphocyte population. Contrary to a predicted increase in marrow cellularity resulting from reversion in a hematopoietic stem cell, pancytopenia was progressive. Additional evaluations revealed a partial deletion of 11q in 3 of 20 bone marrow metaphase cells. By using interphase fluorescence in situ hybridization with an MLL gene probe mapped to band 11q23 to identify colony-forming unit granulocyte-macrophage and burst-forming unit erythroid cells with the 11q deletion, the abnormal clone was exclusive to colonies with the FANCA exon 29 mutation. Thus, we demonstrate the spontaneous genotypic reversion in a lymphohematopoietic stem cell. The subsequent development of a clonal cytogenetic abnormality in nonrevertant cells suggests that ex vivo correction of hematopoietic stem cells by gene transfer may not be sufficient for providing life-long stable hematopoiesis in patients with FA.

Alpha-fetoprotein and beta-human chorionic gonadotropin: their clinical significance as tumour markers.

Tumour markers can aid in areas such as diagnosis, surveillance of recurrence, staging and prognosis. This article focuses on 2 tumour markers, alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (HCG). These tumour markers have been examined for their utility as prognostic indicators in 2 different manners. First, the marker level at diagnosis has been studied to determine if it is prognostic of outcome presumably because of its relation to tumour bulk or to the biological nature of the tumour. A more recent trend has been to investigate tumour marker decline. The finding of a delayed rate of decline suggests a poorer response of the malignancy to chemotherapy. The major focus of the article will be on marker decline of AFP and HCG as prognostic tools in peripheral and central nervous system (CNS) germ cell tumours (GCTs) and hepatic tumours (hepatoblastoma and hepatocellular carcinoma). The articles reviewed here suggest that HCG and AFP can correlate with survival if examined in specific ways, and could potentially be used to tailor treatment for individual patients. One group of authors presents data on patients with GCTs suggesting that satisfactory marker regression is an independent prognostic factor for survival. In a study of hepatoblastoma, data demonstrate that both the magnitude and rate of decline are associated with survival. Marker decline studies in hepatocellular carcinoma do not exist and marker levels at diagnosis do not appear to have a role in potential therapeutic changes. However, data on fucosylated subtype of AFP, Lens culinaris agglutinin A reactive AFP, has shown prognostic significance in hepatocellular carcinoma. The data for CNS GCTs are limited and studies examining serial cerebrospinal fluid HCG/AFP are ongoing. In some diseases, issues relating to timing of marker sampling when examining marker decline need to be studied in greater detail. Hopefully, marker decline studies can be duplicated in the other diseases, to document a potential role in determining outcome. Further studies are needed to test the ability to alter therapy in attempts to improve survival while decreasing toxicity to patients.

Sequence variation in the Fanconi anemia gene FAA.

Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive syndrome associated with chromosomal instability, hypersensitivity to DNA crosslinking agents, and predisposition to malignancy. The gene for FA complementation group A (FAA) recently has been cloned. The cDNA is predicted to encode a polypeptide of 1,455 amino acids, with no homologies to any known protein that might suggest a function for FAA. We have used single-strand conformational polymorphism analysis to screen genomic DNA from a panel of 97 racially and ethnically diverse FA patients from the International Fanconi Anemia Registry for mutations in the FAA gene. A total of 85 variant bands were detected. Forty-five of the variants are probably benign polymorphisms, of which nine are common and can be used for various applications, including mapping studies for other genes in this region of chromosome 16q. Amplification refractory mutation system assays were developed to simplify their detection. Forty variants are likely to be pathogenic mutations. Seventeen of these are microdeletions/microinsertions associated with short direct repeats or homonucleotide tracts, a type of mutation thought to be generated by a mechanism of slipped-strand mispairing during DNA replication. A screening of 350 FA probands from the International Fanconi Anemia Registry for two of these deletions (1115-1118del and 3788-3790del) revealed that they are carried on about 2% and 5% of the FA alleles, respectively. 3788-3790del appears in a variety of ethnic groups and is found on at least two different haplotypes. We suggest that FAA is hypermutable, and that slipped-strand mispairing, a mutational mechanism recognized as important for the generation of germ-line and somatic mutations in a variety of cancer-related genes, including p53, APC, RB1, WT1, and BRCA1, may be a major mechanism for FAA mutagenesis.

Early emergent coronary bypass after failed angioplasty.

Emergency CABG for failed coronary angioplasty was required in 3.3 percent of 1,625 consecutive patients undergoing angioplasties. Twenty-six percent of the patients died in the perioperative period. Efforts must be concentrated on identifying PTCA failure prior to cardiogenic shock.

Early emergent coronary bypass after failed angioplasty.

Emergency CABG for failed coronary angioplasty was required in 3.3 percent of 1,625 consecutive patients undergoing angioplasties. Twenty-six percent of the patients died in the perioperative period. Efforts must be concentrated on identifying PTCA failure prior to cardiogenic shock.

Evaluation of patient, physician, nurse, and family attitudes toward do not resuscitate orders.

We investigated attitudes toward resuscitation by interviewing 97 competent patients classified as do not resuscitate, 60 physicians, 80 family members, and 84 nurses. In addition, 58 family members of incompetent do not resuscitate patients were interviewed. Interview patients were generally elderly, female widows with a diagnosis of malignancy. The majority (66%) preferred that their medical decision making be shared with the physician and/or family. Only 38 patients (39%) could correctly define a "living will." After hearing the definition, 59 patients (61%) thought it was a good idea to ask noncritically ill patients at the time of hospital admission, if they had a living will. Fifty-six patients (58%) said they had discussed resuscitation with their physician, whereas 44 physicians (73%) said they had discussed it with the patient. Only 53 patients (55%) said that they thought their physician understood their wishes. Sixty-five patients (67%) wanted involvement in resuscitation decisions. Forty-eight patients (49%) offered "quality of life" reasons for not wanting to be resuscitated. Sixty-four patients (66%) did not think discussing resuscitation was cruel and insensitive. Eighteen physicians (30%) said they were uncomfortable discussing resuscitation with patients. We recommend introducing the topic of resuscitation early in the patient-physician relationship before diminished competency occurs.

Burns in childhood: an epidemiological survey.

The epidemiology of 382 burns admitted to the Royal Children's Hospital, Brisbane, is reviewed. Accidents due to burn trauma are disproportionately common among children when compared with adults, and during childhood years make up a sizable proportion of all injuries. In addition to the immediate physical trauma, there can be severe psychological consequences as well as severe disturbances to family life. Seventy per cent of the children in this series were normal active children less than four years of age, who were too young to learn that certain things are dangerous, and for this group preventative measures must be directed towards the parents. Possible methods of prevention of burns in children are discussed, and it is tragic that the very traits that make young children so engaging also lead them to accidental burn injuries. Their only hope of prevention lies in increased parental concern.