The effect of cardiac genetic testing on psychological well-being and illness perceptions

Objective

To assess the effects of positive cardiac genetic diagnoses, ICD discharges, and arrhythmias on measures of psychological well-being.

Methods

Fifty-eight adults with prior cardiac genetic testing were enrolled. Patient well-being was determined using the SF-36 (QoL), HADS-A and HADS-D (anxiety/depression), and IPQ-R (patients' perceptions of illness). Patients with positive and negative cardiac genetic test results were compared using non-parametric statistics.

Results

Genetic testing yielded 76% with a positive diagnosis and 29% reported an ICD shock. QoL assessments (n = 33) were within normal ranges (mean of 50) with the exceptions of general health (44.1 ± 12.2, p < 0.01) and bodily pain (55.1 ± 9.1, p < 0.01) domains, but only the bodily pain domain showed differences between those with positive and negative cardiac genetic test results. Subjects with ICD discharges had higher scores than those without shocks in consequential and emotional IPQR subscales as well as greater perceived risks of experiencing a serious cardiac event, developing additional symptoms, or limitations in daily activities.

Conclusion

Positive genetic results did not negatively impact patient well-being with the exception of the bodily pain domain of the SF-36.     

A Spray-Dried Combination of Capreomycin and CPZEN-45 for Inhaled Tuberculosis Therapy

Tuberculosis (TB) remains the single most serious infectious disease attributable to a single-causative organism. A variety of drugs have been evaluated for pulmonary delivery as dry powders: capreomycin sulfate has shown efficacy and was safely delivered by inhalation at high doses to human volunteers, whereas CPZEN-45 is a new drug that has also been shown to kill resistant TB. The studies here combine these drugs—acting by different mechanisms—as components of single particles by spray-drying, yielding a new combination drug therapy. The spray-dried combination powder was prepared in an aerodynamic particle size range suitable for pulmonary delivery. Physicochemical storage stability was demonstrated for a period of 6 months. The spray-dried combination powders of capreomycin and CPZEN-45 have only moderate affinity for mucin, indicating that delivered drug will not be bound by these mucins in the lung and available for microbicidal effects. The pharmacokinetics of disposition in guinea pigs demonstrated high local concentrations of drug following direct administration to the lungs and subsequent systemic bioavailability. Further studies are required to demonstrate the in vivo efficacy of the combination to confirm the therapeutic potential of this novel combination.     

Outcome of deceased donor renal transplantation in patients with an ileal conduit

Renal transplantation in recipients with an ileal conduit is uncommon and occasionally controversial as it has been associated with high morbidity and mortality rates. We report on 17 patients with an ileal conduit who received a deceased donor renal transplant at our institution between January 1986 and December 2012. We retrospectively reviewed their allograft and surgical outcome. There were four mortalities at five, five, 39, and 66 months post‐transplant. Sixteen of 17 grafts functioned immediately; one patient had primary non‐function secondary to vascular thrombosis. Thirteen of 17 (76.5%) grafts were functioning at a mean follow‐up period of 105 months. The mean serum creatinine at follow‐up was 111 μM (±38.62). Five patients had seven episodes of urosepsis requiring hospital admission, and five patients received treatment for renal stone disease. We conclude that given improvements in immunosuppression, surgical technique, infection treatment, and selection criteria, we believe that renal transplantation in the patient with an ileal conduit yields excellent graft survival, although there is a high morbidity rate in this cohort of patients in the long term.     

Colonisation with methicillin‐resistant Staphylococcus aureus prior to renal transplantation is associated with long‐term renal allograft failure

Renal transplant recipients are at an increased risk of developing Methicillin‐resistant Staphylococcus aureus due to their immunosuppressed status. Herein, we investigate the incidence of MRSA infection in patients undergoing renal transplantation and determine the effect of MRSA colonisation on renal allograft function and overall mortality. Between January 1st 2007 and December 31st 2012, 1499 consecutive kidney transplants performed in our transplant unit and a retrospective 1:2 matched case‐control study was performed on this patient cohort. The 1‐, 3‐ and 5‐year overall graft survival rates were 100%, 86% and 78%, respectively, in MRSA positive recipients compared with 100%, 100% and 93%, respectively, in the control group (P < 0.05). The 1‐, 3‐ and 5‐year overall patient survival rates were 100%, 97% and 79%, respectively, in MRSA positive recipients compared with 100%, 100% and 95%, respectively, in the control group (P = 0.1). In a multiple logistic regression analysis, colonisation with MRSA pre‐operatively was an independent predictor for renal allograft failure at 5 years (hazard ratio: 4.6, 95% confidence interval: 1–30.7, P = 0.048). These findings demonstrate that the incidence of long‐term renal allograft failure is significantly greater in this patient cohort compared with a matched control population.     

Early experience of MAGEC magnetic growing rods in the treatment of early onset scoliosis

Purpose

Magnetically controlled growing rod systems have been introduced over recent years as an alternative to traditional growing rods for management of early onset scoliosis. The purpose of this paper is to report our early experience of a magnetically controlled growing rod system (MAGEC, Ellipse).

Methods

Review of pre-operative, postoperative and follow-up Cobb angles and spinal growth in case series of eight patients with a minimum 23 months’ follow-up (23–36 months).

Results

A total of six patients had dual rod constructs implanted and two patients received single-rod constructs. Four patients had MAGEC rods as a primary procedure. Four were revisions from other systems. Mean age at surgery in the primary group was 4.5 years (range 3.9–6.9). In patients who had MAGEC as a primary procedure, mean pre-operative Cobb angle was 74° (63–94), with postoperative Cobb angle of 42° (32–56) p ≤ 0.001 (43 % correction). Mean Cobb angle at follow-up was 42° (35–50). Spinal growth rate was 6 mm/year. One sustained proximal screw pull out. A final patient sustained a rod fracture. Mean age at surgery in the revision group was 10.9 years (range 9–12.6). Mean pre-operative Cobb angle was 45° (34–69). Postoperative Cobb angle was 42° (33–63) (2 % correction). Mean Cobb angle at follow-up was 44° (28–67). Mean spinal growth rate was 12 mm/year. Two patients developed loss of distraction.

Conclusion

MAGEC growing rod system effectively controls early onset scoliosis when used as either a primary or revision procedure. Although implant-related complications are not uncommon, the avoidance of multiple surgeries following implantation is beneficial compared with traditional growing rod systems.

     

Carcinoma‐associated fibroblasts,its implication in head and neck squamous cell carcinoma: a mini review

The communication between tumor stromal and parenchymal cells provides an insight to tumor progression. One of the main elements of the stroma, a major contributor to the extracellular environment of tumors, is carcinoma‐associated fibroblasts. They can originate from either normal fibroblasts in the immediate vicinity of the tumor or from circulating bone marrow–derived mesenchymal stem cells. These myofibroblasts can arise locally from an endothelial–mesenchymal transformation at the invasive edge of the cancer and are physically associated with carcinoma cells, that is, in the development of high‐grade malignancies and poor prognosis. These carcinoma‐associated fibroblasts feed the epithelial tumor cells in a host–parasite relationship establishing its role in head and neck squamous cell carcinoma progression.     

Influence of postischemic administration of oxyradical antagonists on ischemic injury to rabbit skeletal muscle

The aim of this study was to determine whether the administration of free radical antagonists, immediately before and during the early minutes of reperfusion, improves muscle survival 24 hr after a period of ischemia. Rabbit rectus femoris muscles were isolated, made ischemic for 3½ hr and treated with either desferrioxamine (DFX), an Fe³⁺ chelator, superoxide dismutase and catalase (SOD & CAT), which quench superoxide and hydrogen peroxide, or allopurinol, an inhibitor of xanthine oxidase (XO). After 24 hr reperfusion, muscle viability (±s.e.m.), measured by the nitro blue tetrazolium (NBT) vital staining technique, was 41.6 ± 11.3% for saline-treated ischemic controls, 30.6 ± 7.6% for DFX-treated, 46.7 ± 10.3% for SOD & CAT-treated, and 43.3 ± 9.5% for allopurinol-treated muscles. None of the treated groups differed significantly from the ischemic control group. Tissue myeloperoxidase, ATP and reduced glutathione levels, and plasma lactate dehydrogenase (LDH) and aspartate transaminase (AST) levels were increased by ischemia and reperfusion in all groups, but the changes did not differ between the treatment groups. Levels of XO in the rabbit muscle were determined and found to be very low in both normal and postischemic muscle. As XO is the target enzyme of allopurinol, its absence provides a basis for the lack of effect of this agent. However, it is not clear why DFX and SOD & CAT had no protective effect © 1997 Wiley-Liss, Inc MICROSURGERY 17:517–523 1996     

化疗联合HLA不全相合G-PBSC输注治疗恶性血液病的临床分析

目的初步探讨化疗联合HLA不全相合G-PBSC输注(微移植)治疗恶性血液病的临床应用。方法回顾性分析2015-05～2016-12接受微移植治疗的13例恶性血液病患者的临床及随访资料。根据病情,对13例患者行不同的预处理方案化疗后,计划给予微移植3～4次。观察微移植后患者的缓解情况,生存时间,血象恢复时间,急、慢性移植物抗宿主病(GVHD)及其他不良反应发生情况。结果随访至2017-04,中危组8例,其中存活6例,死亡2例;高危组5例,其中存活2例,死亡3例。中位生存期为9个月(4～24个月)。微移植治疗后,中性粒细胞和血小板平均恢复时间分别为8 d(5～14 d)和11 d(6～20 d)。所有患者在微移植过程中均未出现急、慢性GVHD及其他不良反应。结论微移植在供者选择上不受限制,移植后血小板及中性粒细胞恢复较快,且无急、慢性GVHD及其他不良反应发生;微移植在中高危恶性血液病的临床应用尚处于探索阶段,仍需多中心、大样本的临床研究来进一步验证。