Budd-Chiari syndrome in a 25-year-old woman with Behçet's disease: a case report and review of the literature

<p>Abstract</p> <p>Introduction</p> <p>The risk that patients with Behçet's disease will develop thrombotic complications has been previously described. Although it is distributed worldwide, Behçet's disease is rare in the Americas and Europe. Even though the pathogenic mechanisms of vascular complications of Budd-Chiari syndrome in patients with Behçet's disease are unknown, severe vascular complications of Budd-Chiari syndrome associated with Behçet's disease seem to affect mainly young men.</p> <p>Case presentation</p> <p>We report a case of Budd-Chiari syndrome, a severe vascular complication that developed in a 25-year-old Afro-Brazilian woman with Behçet's disease.</p> <p>Conclusion</p> <p>Severe vascular complications of Budd-Chiari syndrome in patients with Behçet's disease are much more common in young adult male patients; we present a rare case of Budd-Chiari syndrome in a young Afro-Brazilian woman with Behçet's disease.</p

Intestinal Perforations in Behçet’s Disease

Behçet’s disease accompanied by intestinal involvement is called intestinal Behçet’s disease. The intestinal ulcers of Behçet’s disease are usually multiple and scattered and tend to perforate easily, so that many patients require emergency operation. The aim of this study is to determine the extent of surgical resection necessary to prevent reperforation and to point out the findings of concurrent oral and genital ulcers and multiple intestinal perforations in all patients of our series. During a 25-year study period, information of 125 Behçet’s disease cases was gathered. Among the 82 patients who were diagnosed with intestinal Behçet’s disease, 22 cases had intestinal perforations needing emergency laparotomy. We investigated and analyzed these cases according to the patients’ demographic characteristics, clinical presentations, laboratory data, and surgical outcome. There were 14 men and 8 women ranging from 22 to 65 years of age. Nine cases were diagnosed preoperatively, and the diagnoses were confirmed in all 22 cases during the surgical intervention. Surgical resection was performed in every patient, with right hemicolectomy and ileocecal resection in 11 cases, partial ileum resection in 8 cases with two reperforations, and ileocecal resection in 3 cases with one reperforation

IBMPFD disease-causing mutant VCP/p97 proteins are targets of autophagic-lysosomal degradation

The ubiquitin-proteasome system (UPS) degrades soluble proteins and small aggregates, whereas macroautophagy (autophagy herein) eliminates larger protein aggregates, tangles and even whole organelles in a lysosome-dependent manner. VCP/p97 was implicated in both pathways. VCP/p97 mutations cause a rare multisystem disease called IBMPFD (Inclusion Body Myopathy with Paget's Disease and Frontotemporal Dementia). Here, we studied the role IBMPFD-related mutants of VCP/p97 in autophagy. In contrast with the wild-type VCP/p97 protein or R155C or R191Q mutants, the P137L mutant was aggregate-prone. We showed that, unlike commonly studied R155C or R191Q mutants, the P137L mutant protein stimulated both autophagosome and autolysosome formation. Moreover, P137L mutant protein itself was a substrate of autophagy. Starvation- and mTOR inhibition-induced autophagy led to the degradation of the P137L mutant protein, while preserving the wild-type and functional VCP/p97. Strikingly, similar to the P137L mutant, other IBMPFD-related VCP/p97 mutants, namely R93C and G157R mutants induced autophagosome and autolysosome formation; and G157R mutant formed aggregates that could be cleared by autophagy. Therefore, cellular phenotypes caused by P137L mutant expression were not isolated observations, and some other IBMPFD disease-related VCP/p97 mutations could lead to similar outcomes. Our results indicate that cellular mechanisms leading to IBMPFD disease may be various, and underline the importance of studying different disease-associated mutations in order to better understand human pathologies and tailor mutation-specific treatment strategies

"I should live and finish it": A qualitative inquiry into Turkish women's menopause experience

<p>Abstract</p> <p>Background</p> <p>While bio-medically, menopause could be treated as an illness, from a psychosocial and cultural perspective it could be seen as a "natural" process without requiring medication unless severe symptoms are present.</p> <p>Our objective is to explore the perceptions of Turkish women regarding menopause and Hormone Therapy (HT) to provide health care workers with an insight into the needs and expectations of postmenopausal women.</p> <p>Methods</p> <p>A qualitative inquiry through semi-structured, in-depth interviews was used to explore the study questions. We used a purposive sampling and included an equal number of participants who complained about the climacteric symptoms and those who visited the outpatient department for a problem other than climacteric symptoms but when asked declared that they had been experiencing climacteric symptoms. The interview questions focused on two areas; 1) knowledge, experiences, attitudes and beliefs about menopause and; 2) menopause-related experiences and ways to cope with menopause and perception of HT.</p> <p>Results</p> <p>Most of the participants defined menopause as a natural transition process that one should go through. Cleanliness, maturity, comfort of not having a period and positive changes in health behaviour were the concepts positively attributed to menopause, whereas hot flushes, getting old and difficulties in relationships were the negatives. Osteoporosis was an important concern for most of the participants. To deal with the symptoms, the non-pharmacological options were mostly favoured.</p> <p>Conclusion</p> <p>To our knowledge, this is the first qualitative study which focuses on Turkish women's menopausal experiences. Menopause was thought to be a natural process which was characterised by positive and negative features. Understanding these features and their implications in these women's lives may assist healthcare workers in helping their clients with menopause.</p

A three-dimensional view of structural changes caused by deactivation of fluid catalytic cracking catalysts

Since its commercial introduction three-quarters of a century ago, fluid catalytic cracking has been one of the most important conversion processes in the petroleum industry. In this process, porous composites composed of zeolite and clay crack the heavy fractions in crude oil into transportation fuel and petrochemical feedstocks. Yet, over time the catalytic activity of these composite particles decreases. Here, we report on ptychographic tomography, diffraction, and fluorescence tomography, as well as electron microscopy measurements, which elucidate the structural changes that lead to catalyst deactivation. In combination, these measurements reveal zeolite amorphization and distinct structural changes on the particle exterior as the driving forces behind catalyst deactivation. Amorphization of zeolites, in particular, close to the particle exterior, results in a reduction of catalytic capacity. A concretion of the outermost particle layer into a dense amorphous silica–alumina shell further reduces the mass transport to the active sites within the composite

The effects of ocular magnification on Spectralis spectral domain optical coherence tomography scan length

Purpose The purpose of this study was to assess the effects of incorporating individual ocular biometry measures of corneal curvature, refractive error, and axial length on scan length obtained using Spectralis spectral domain optical coherence tomography (SD-OCT). Methods Two SD-OCT scans were acquired for 50 eyes of 50 healthy participants, first using the Spectralis default keratometry (K) setting followed by incorporating individual mean-K values. Resulting scan lengths were compared to predicted scan lengths produced by image simulation software, based on individual ocular biometry measures including axial length. Results Axial length varied from 21.41 to 29.04 mm. Spectralis SD-OCT scan lengths obtained with default-K ranged from 5.7 to 7.3 mm, and with mean-K from 5.6 to 7.6 mm. We report a stronger correlation of simulated scan lengths incorporating the subject’s mean-K value (ρ = 0.926, P < 0.0005) compared to Spectralis default settings (ρ = 0.663, P < 0.0005). Conclusions Ocular magnification appears to be better accounted for when individual mean-K values are incorporated into Spectralis SD-OCT scan acquisition versus using the device’s default-K setting. This must be considered when taking area measurements and lateral measurements parallel to the retinal surface

Getting the strain under control: Trans-Varestraint tests for hot cracking susceptibility

A new method for conducting Trans-Varestraint tests for assessing hot cracking susceptibility is proposed. Experiments were carried out, to validate the new method, with an industrial scale rig using tungsten inert gas welding. The hot cracking susceptibility of API-5L X65 and EN3B steel was compared. The results indicated that, by using the new method, the strain applied to the welding bead and consequently to the solidification front was controlled in a repeatable and reliable way. The results also indicated that EN3B has a maximum crack length (a parameter in the test) higher than X65 and it is reached at lower augmented strain thus demonstrating it is more susceptible to hot cracking, while also indicating that there is a capability of predicting the initiation position of hot cracks during welding. By using the method proposed, the capability of setting standardized test procedures for Trans-Varestraint tests is improved. It is recommended that future tests for assessing hot cracking susceptibility should employ the proposed method in order for the results to be comparable and to also study the effect of strain rate in hot cracking of materials

A roadmap for the Human Developmental Cell Atlas

The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human Cell Atlas, aims to create a comprehensive reference map of cells during development. This will be critical to understanding normal organogenesis, the effect of mutations, environmental factors and infectious agents on human development, congenital and childhood disorders, and the cellular basis of ageing, cancer and regenerative medicine. Here we outline the HDCA initiative and the challenges of mapping and modelling human development using state-of-the-art technologies to create a reference atlas across gestation. Similar to the Human Genome Project, the HDCA will integrate the output from a growing community of scientists who are mapping human development into a unified atlas. We describe the early milestones that have been achieved and the use of human stem-cell-derived cultures, organoids and animal models to inform the HDCA, especially for prenatal tissues that are hard to acquire. Finally, we provide a roadmap towards a complete atlas of human development

Lkb1 Deficiency Alters Goblet and Paneth Cell Differentiation in the Small Intestine

The Lkb1 tumour suppressor is a multitasking kinase participating in a range of physiological processes. We have determined the impact of Lkb1 deficiency on intestinal homeostasis, particularly focussing on secretory cell differentiation and development since we observe strong expression of Lkb1 in normal small intestine Paneth and goblet cells. We crossed mice bearing an Lkb1 allele flanked with LoxP sites with those carrying a Cyp1a1-specific inducible Cre recombinase. Lkb1 was efficiently deleted from the epithelial cells of the mouse intestine after intraperitoneal injection of the inducing agent β-naphthoflavone. Bi-allelic loss of Lkb1 led to the perturbed development of Paneth and goblet cell lineages. These changes were characterised by the lack of Delta ligand expression in Lkb1-deficient secretory cells and a significant increase in the levels of the downstream Notch signalling effector Hes5 but not Hes1. Our data show that Lkb1 is required for the normal differentiation of secretory cell lineages within the intestine, and that Lkb1 deficiency modulates Notch signalling modulation in post-mitotic cells