BACKGROUND AND AIM: Percutaneous transcatheter occlusion with ethanol injection of septal arteries is an efficient treatment procedure of hypertrophic obstructive cardiomyopathy (HOCM). The aim of our study was to evaluate the feasibility and efficiency of septal artery embolisation with microcoils. METHODS: Microcoils were delivered through the guide-wire lumen of a 2mm-diameter coaxial balloon positioned inside the target vessel as distally as possible. One or more 0.018"-straight microcoils (Hilal straight coils, Cook, USA) were used for each target vessel until complete flow obstruction was achieved. The intraventricular pressure gradient was measured before, during and after the procedure. Septal branch occlusion was finally documented by coronary angiography. RESULTS: We treated 7 patients (5 males; mean age: 48 +/- 10 years). All patients were symptomatic (NYHA class III or IV). The target vessels were successfully occluded in all patients without complications. Moderate pain was recorded during and after the procedure and the CK level increased five- to ten-fold. The pressure gradient diminished during the procedure from 72 +/- 21 mmHg to 30 +/- 15 mmHg. The number of coils delivered ranged from 3 to 7 per patient. The embolised septal branches included 1 vessel in 5 patients, 2 vessels in 1 patient and 3 vessels in 1 case. After the procedure, the pressure gradient, evaluated by transthoracic echocardiography, was 34 +/- 16 mmHg and 42 +/- 12 mmH at 3 month-follow-up. Clinical improvement was recorded in all patients after the procedure (NYHA class I or II). Temporary pacing was necessary in 3 patients during and immediately after the procedure but no patient needed permanent pacing. CONCLUSIONS: Microcoil embolisation is an efficient and safe approach for transcatheter ablation of septal hypertrophy in HOCM. This technique induced myocardial necrosis without the toxic effects of alcohol, reducing the risk of complications such as permanent pacemaker implantation or ethanol flow to other myocardial regions. 相似文献
Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants. The integrity of the Golgi apparatus requires the presence of the peripheral membrane protein VPS13B that have an essential function in intracellular protein transport and vesicle-mediated sorting.
Case presentation
In this study, we performed whole exome sequencing (WES) in a Tunisian family with two young cases having developmental delay, hypotonia, autism spectrum disorder, ptosis and thick hair and eyebrows. The proposita presented also pigmentory retinopathy. Compound heterozygous mutation in VPS13B gene was detected by WES. This mutation inherited from healthy heterozygous parents, supports an unpredictable clinical diagnosis of Cohen Syndrome. The proband’s phenotype is explained by the presence of compound heterozygous mutations in the VPS13B gene. This finding refined the understanding of genotype-phenotype correlation.
Conclusions
This is the first report of a Tunisian family with Cohen syndrome mutated in the VPS13B gene.
The health-related consequences of stress in hospital workers and associated costs of absenteeism and high turnover have increased the need for programs targeting stress in this population. “Caring for the Caregivers,” a multimodal approach to stress-reduction designed to address the multidimensional nature of stress in hospital staff, integrates five components: cognitive, somatic, dynamic, emotive and hands-on, in a flexible eight-month format. Significant improvements were demonstrated for 97 participants compared to 67 controls in pre–post scores for the Maslach Burnout Inventory, Job-Related Tension Index, Perceived Stress Scale, Productivity Scale, General Health Questionnaire, Positive and Negative Affect Schedule, and Visual Analogue Scales of 12 stress-associated symptoms. Together with significant reduction in upper respiratory infections and family doctor visits, these results suggest that providing hospital staff with multiple techniques addressing commonly encountered work stressors impacts positively on health and well-being and significantly reduces stress and burnout in this population. 相似文献
Objective: In recent years, there are an increasing number of individuals with schizophrenia who are aging within the general society. Self-etiology of the illness refers to its causal attributions by this population as part of the life review process. The aim of this paper is to develop knowledge from the perspective of older people with schizophrenia regarding the self-etiology of their illness. Focusing on the self-etiology of this particular population is useful, to enhance the understanding of their lived experience in the context of their lifeworld.
Method: The study was carried out using the reflective lifeworld phenomenological approach. In-depth semi-structured interviews were conducted with 18 aging individuals with schizophrenia followed by analysis for meaning.
Results: Five major constituents of the phenomenon under study – the experience of self-etiology among aging people with schizophrenia – emerged from the findings: ‘It leaves you to your fate’ – schizophrenia as a decree of fate; ‘I have sinned against God’ – schizophrenia as a punishment from God; ‘They put something in my coffee’ – schizophrenia as a result of witchcraft; ‘Her genes are in me’ – schizophrenia as genetic; and ‘She left me and that's how I got sick’ – schizophrenia as a result of personal trauma.
Conclusions: The findings show that self-etiology in old age tends to be stable, externally attributed and culturally oriented, and serves as a central component in the life review process. This is relevant for professionals developing intervention methods for aging people with schizophrenia. 相似文献
Previous investigations demonstrated that various aromatic compounds, many of which are known antioxidants, inhibit amyloid fibril formation. Yet, the mechanism of action of these compounds is not fully understood and contribution of their antioxidative potency has not been addressed. In recent publications, Ono et al. (2003, 2004) studied the anti-amyloid effects of 11 phenols on each of three consecutive processes: (1) seeding (formation) of nascent fibrils, (2) elongation (extension) of the fibrils, and (3) depolymerization (destabilization) of the formed assemblies. The aim of the present study was to evaluate the molecular mechanisms that mediate the effects of the studied inhibitors on each of these processes. Hierarchical clustering analyses indicated that the studied inhibitors can be categorized into three groups: 'slightly active' inhibitors, 'highly active' inhibitors and 'selective inhibitors' that differ markedly in their effects on these three stages. Analyses of the correlations between the effects of the studied compounds on the various stages of amyloid fibril formation, and their known physicochemical properties provided novel insights on the specific role of hydrophobic and aromatic interactions as well as the antioxidative potency on the process of amyloid fibril formation and dissociation. Specifically, the hydrophobic and/or aromatic character of the compounds makes the major contribution to the anti-formation and anti-extension effects, whereas the antioxidative potency relates mostly to the promotion of destabilization. 相似文献
Hepatocellular carcinoma (HCC) is the third leading cause of cancer mortality worldwide and is considered to be the outcome of chronic liver inflammation. Currently, the main treatment for HCC is surgical resection. However, survival rates are suboptimal partially because of tumor recurrence in the remaining liver. Our aim was to understand the molecular mechanisms linking liver regeneration under chronic inflammation to hepatic tumorigenesis. Mdr2-KO mice, a model of inflammation-associated cancer, underwent partial hepatectomy (PHx), which led to enhanced hepatocarcinogenesis. Moreover, liver regeneration in these mice was severely attenuated. We demonstrate the activation of the DNA damage-response machinery and increased genomic instability during early liver inflammatory stages resulting in hepatocyte apoptosis, cell-cycle arrest, and senescence and suggest their involvement in tumor growth acceleration subsequent to PHx. We propose that under the regenerative proliferative stress induced by liver resection, the genomic unstable hepatocytes generated during chronic inflammation escape senescence and apoptosis and reenter the cell cycle, triggering the enhanced tumorigenesis. Thus, we clarify the immediate and long-term contributions of the DNA damage response to HCC development and recurrence. 相似文献
Caspase-8 has been implicated in signaling for apoptotic cell death and for certain nonapoptotic functions. However, knowledge of actual physiological or pathophysiological processes to which this enzyme contributes is lacking. Using a mouse model and employing the conditional knockout approach to delete the caspase-8 gene specifically in the liver, we found that caspase-8 deficiency in hepatocytes facilitates infection of the liver by Listeria monocytogenes, attenuates the hepatocyte proliferation wave during the first 48 hours after partial hepatectomy and, depending on the genetic background of the mice, prompts a chronic inflammatory response to the hepatectomy, as a result of which the proliferation of hepatocytes, although initially suppressed, might later be persistently enhanced, resulting in significant hepatomegaly. CONCLUSION: These findings indicate that caspase-8 participates in regulation of the cellular response to infection and injury and that it does so by affecting various cellular functions, including cell death, cell proliferation, and induction of inflammation. 相似文献
The purpose of this study was to examine the effect of age and selected indications for capsule endoscopy on small bowel transit
times. Data on 67 clinical studies (790 subjects with different gastrointestinal pathologies [49.5% males; mean age, 51.9 ± 18.33
years; range, 18–91 years] and 87 healthy volunteers) were retrieved from the company (Given Imaging, Ltd.)-sponsored database.
All subjects swallowed the PillCam SB Capsule after a 12-hr fast. The capsule reached the cecum in all 877 participants. Indications
for referral for capsule endoscopy were as follows: 372 obscure gastrointestinal bleeding, 96 suspected Crohn’s disease, 65
celiac disease, 54 irritable bowel syndrome, and 116 familial adenomatous polyposis, intestinal lymphoma, or ulcerative colitis.
One group consisted of patients <40 years old (n = 235), and the other patients 40 years old (n = 555). The younger group, volunteers, and Crohn’s disease patients had significantly shorter small bowel transit times than
the others (P < 0.001). Gastric emptying indirectly influenced capsule transit time. 相似文献
Highly porous poly(dl-lactic-co-glycolic acid) films with controlled release of horseradish peroxidase (HRP) as a model protein have been successfully developed and studied. These films, which are prepared by freeze-drying inverted emulsions, are designed for use in tissue-regeneration applications. The effects of the emulsion’s formulation and host polymer’s characteristics on the film’s microstructure and HRP release profile over 4 weeks were investigated. A dual pore size population is characteristic for most films, with large 12–18 μm pores and small 1.5–7 μm pores, and porosity in the range of 76–92%. An increase in the polymer content and its initial molecular weight, organic/aqueous (O:A) phase ratio and lactic acid content, or a decrease in the HRP content, all resulted in a decreased burst effect and a more moderate release profile. A simultaneous change in two or three of these formulation parameters (compared to a reference formulation) resulted in a synergistic effect on the HRP release profile. A constant HRP release rate was achieved when a composite film was used. Human gingival fibroblast adhesion to the films indicated good biocompatibility. Appropriate selection of the emulsion’s parameters can therefore yield highly porous films with the desired protein-release behavior which can serve as scaffolds for bioactive agents in tissue-regeneration applications. 相似文献