Familial occurrence of inflammatory bowel disease in celiac disease

BACKGROUND: The authors have previously reported a possible increased risk of the familial occurrence of Crohn's disease in patients with celiac disease. AIM: The aim of the current study was to evaluate in a case-control study the familial occurrence of inflammatory bowel disease (IBD) in first-degree relatives of patients with celiac disease. METHODS: One hundred eleven consecutive patients with biopsy-proven celiac disease were interviewed to ascertain whether IBD was present in first-degree relatives. The number of relatives, their ages, and possible IBD status were collected in a questionnaire. When a diagnosis of familial IBD was reported, the diagnosis was checked in the hospital records. Two hundred twenty-two controls matched for age and sex (111 from the general population and 111 from orthopedic wards) were also interviewed regarding the possible occurrence of IBD in first-degree relatives. The chi2 test was used to evaluate the difference in proportion of familial occurrence of IBD among individuals with celiac disease and controls. RESULTS: Among 600 first-degree relatives of patients with celiac disease, 10 cases of IBD were identified among first-degree relatives (7 cases of ulcerative colitis and 3 cases of Crohn's disease), whereas only 1 case of IBD was identified among the 1,196 first-degree relatives of control patients (p < 0.01). When ulcerative colitis and Crohn's disease were analyzed separately, only the prevalence of ulcerative colitis was statistically significant (p 相似文献   

Evaluation of pulmonary arterial hypertension

PURPOSE OF REVIEW: Pulmonary arterial hypertension (PAH) is defined as a group of diseases characterized by a progressive increase of pulmonary vascular resistance leading to right ventricular failure and premature death. The purpose of this review is to analyze the current knowledge of the evaluation of PAH patients. RECENT FINDINGS: Recently, the diagnostic approach has been more clearly defined according to the new clinical classification and with consensus reached on algorithms of various investigative tests and procedures that exclude other causes and ensure an accurate diagnosis of PAH. The diagnostic procedures include clinical history and physical examination, ECG, chest radiography, transthoracic Doppler echocardiography, pulmonary function tests, arterial blood gases, ventilation and perfusion lung scan, high-resolution CT of the lung, contrast-enhanced spiral CT of the lung and pulmonary angiography, blood tests and immunology, abdominal ultrasound scan, exercise capacity assessment, and hemodynamic evaluation. SUMMARY: Invasive and noninvasive markers of disease severity, either biomarkers or physiologic parameters and tests that can be widely applied, have been proposed to reliably diagnose PAH and monitor the clinical course.     

Adenocarcinoma of the ileoanal pouch anastomosis: an emerging complication?

BACKGROUND AND AIMS: Restorative proctocolectomy with ileoanal pouch anastomosis (IPAA) is currently the surgical treatment of choice for ulcerative colitis. Although dysplastic changes to the native ileal mucosa of the pouch occur in a subgroup of patients with severe chronic pouchitis, the development of cancer in the pouch itself is a very rare event. To date, only two cases of carcinoma of the IPAA have been reported, namely in patients operated on for colon cancer complicating ulcerative colitis and with a previous diagnosis of backwash ileitis. CASE REPORT: We report a patient with carcinoma in an ileoanal pouch who had been suffering from chronic atrophic pouchitis early after surgery. He had no previous history of colon cancer or backwash ileitis. The adenocarcinoma was detected 22 months after IPAA, and it was deeply infiltrating the adjacent structures (pT4N0M0, grade 2). Histology revealed the passage from chronic atrophic pouchitis to dysplastic epithelium and to cancer. CONCLUSION: Our case suggests that malignant transformation of the IPAA may occur as a pure complication of the severe chronic pouchitis, even in the absence of backwash ileitis or a previous history of colon cancer.     

The Non‐Motor Symptoms Scale in Parkinson’s disease: Validation and use

The Non‐Motor Symptoms Scale (NMSS) was developed and validated in 2007 as the first instrument for the comprehensive assessment of a range of non‐motor symptoms in Parkinson's disease (PD). Thirteen years have elapsed since its introduction and extensive international validation with good psychometric attributes has been carried out. Here, we review the validation data of the NMSS and its cross‐validity with other scales, and describe the key evidence derived from use of the NMSS in clinical studies. To date, over 100 clinical studies and trials have made use of it as an outcome measure, showing consistent and strong correlations between NMSS burden and health‐related quality of life measures. Moreover, the scale has shown to be capable of detecting longitudinal changes in non‐motor symptoms, where studies have shown differential changes over time of several of the NMSS domains. The scale has become a key outcome in several randomized clinical trials. Highlighting the prevalence and importance of non‐motor symptoms to quality of life in patients with PD, the development of NMSS has also been useful in signposting clinical and biomarker based research addressing non‐motor symptoms in PD.     

Anticipatory synergy adjustments: preparing a quick action in an unknown direction

We studied a mechanism of feed-forward control of a multi-finger action, namely anticipatory synergy adjustments (ASAs), prior to a quick force correction in response to a change in the gain of the visual feedback. Synergies were defined as co-varied across trials adjustments of commands to fingers that stabilized (decreased variance of) the total force. We hypothesized that ASAs would be highly sensitive to prior information about the timing of the action but not to information on its direction, i.e., on whether the gain would go up or down. The subjects produced accurate constant total force by pressing with four fingers on individual force sensors. The feedback signal could change from veridical (the sum of finger forces) to modified, with the middle finger force multiplied by 0.2 or by 1.8. The timing of the gain change and its direction could be known or unknown to the subject in advance. When the timing of the gain change was known, ASA was seen as a drop in the synergy index starting about 250–300 ms prior to the first visible correction of the total force. When the gain change timing was unknown, ASAs started much later, less than 100 ms prior to the total force correction. The magnitude of synergy index changes was significantly larger under the “time known” conditions. Information on the direction of the visual gain change had no effect on the ASA timing, while the ASA magnitude was somewhat larger when this information was not available to the subject. After the total force correction, the synergy index was significantly larger for the force signal computed using the modified gain values as compared to the synergy index value for the actual total force. We conclude that ASAs represent an important feed-forward motor control mechanism that allows preparing for a quick action even when the direction of the action is not known in advance. The results emphasize the subtle control of multi-finger synergies that are specific to the exact contributions of individual fingers to performance variables. The data fit well the central back-coupling hypothesis of synergies and the idea of control with referent body configurations.     

Pentraxin 3 (PTX3) inhibits plasma cell/stromal cell cross‐talk in the bone marrow of multiple myeloma patients

Pentraxin 3 (PTX3) is a soluble pattern recognition receptor that binds with high affinity and selectivity to fibroblast growth factor‐2 (FGF2), thus inhibiting its pro‐angiogenic activity. Here we investigated the effects of PTX3 on monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM) patient‐derived bone marrow (BM) plasma cells (PCs), endothelial cells (ECs), and fibroblasts (FBs), and assessed whether PTX3 can modulate the cross‐talk between PCs and those microenvironment cells. PTX3 and FGF2 expression was evaluated by ELISA. Functional studies, including cell viability, wound healing, chemotaxis, and Matrigel^® assays, were performed on MGUS and MM ECs and FBs upon the PTX3 treatment. Through western blot PTX3‐induced modulation in FGF2/FGF receptor signalling pathways was evaluated in MGUS and MM ECs and FBs through western blot. Co‐cultures between MM ECs/FBs and human PC lines were used to evaluate possible PTX3 indirect effects on MM PCs. Adhesion molecules were studied by flow cytometry. PTX3 provides a direct time‐ and dose‐dependent apoptotic effect on MM ECs and FBs, but not on either MM primary PCs or human PC lines. PTX3 inhibits migration of MM ECs and FBs in a dose‐dependent manner, and impacts in vitro and in vivo FGF2‐mediated MM angiogenesis. Co‐cultures of PCs and ECs/FBs show that PTX3 treatment indirectly impairs PC viability and adhesion. We conclude that PTX3 is an anti‐angiogenic factor in MM and behaves as a cytotoxic molecule on MM cells by inhibiting the cross‐talk between PCs and ECs/FBs. Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Severe acute hepatitis B in a treatment‐naïve patient with antiviral drug resistant mutations in the polymerase gene

This is a case of 62 years old Caucasian treatment‐naïve patient who developed a severe acute hepatitis B infection soon after a trip to Thailand. The infection was due to genotype C HBV which was found to be resistant to lamivudine and telbivudine. The patient was treated with tenofovir resulting in complete suppression of viral replication and complete clinical and laboratory remission of acute hepatitis. Later the patient also developed seroconversion of HBeAg to anti‐HBe and of HBsAg to anti‐HBs. This case demonstrates that mutations of HBV polymerase associated with lamivudine, telbivudine, and adefovir resistance can be present also in untreated patients with severe acute hepatitis B. This suggests that in the clinical context, which represents a life threatening condition, a baseline resistance‐testing should be an additional marker in the diagnostic evaluation process. Finally, this case report seems to support the use of tenofovir for the immediate treatment of severe acute hepatitis B. J. Med. Virol. 85:210–213, 2013. © 2012 Wiley Periodicals, Inc.     

Attachment style and immunity: A 1-year longitudinal study

Previous cross-sectional studies suggested an association between attachment-related avoidance and altered immune function. We aimed at testing this hypothesis with longitudinal data. A random sample of 65 female nurses provided a blood sample and completed measures of perceived stress, social support, alexithymia, and attachment style. Immune assays included lymphocyte proliferative response (LPR) to Phytohemagglutinin and NK cell cytotoxicity (NKCC). State measures (perceived stress and support) and immune measures were collected again after 4, 8, and 12 months. Linear mixed effects models were used to examine the relationship between attachment and immunity. While low to moderate levels of attachment-related avoidance were not associated with NKCC, there was a significant negative association (beta −.35; p = .005) between high levels of avoidance and NKCC. No association was observed between NKCC and attachment-related anxiety, and between LPR and both attachment dimensions. While our findings should be interpreted with caution due to study limitations such as the relatively small sample size and the inclusion of only female participants, they corroborate the notion that attachment is linked to physiology and health.     

Neurochemical underpinning of hemodynamic response to neuropsychiatric drugs: A meta- and cluster analysis of preclinical studies

Functional magnetic resonance imaging (fMRI) is an extensively used method for the investigation of normal and pathological brain function. In particular, fMRI has been used to characterize spatiotemporal hemodynamic response to pharmacological challenges as a non-invasive readout of neuronal activity. However, the mechanisms underlying regional signal changes are yet unclear. In this study, we use a meta-analytic approach to converge data from microdialysis experiments with relative cerebral blood volume (rCBV) changes following acute administration of neuropsychiatric drugs in adult male rats. At whole-brain level, the functional response patterns show very weak correlation with neurochemical alterations, while for numerous brain areas a strong positive correlation with noradrenaline release exists. At a local scale of individual brain regions, the rCBV response to neurotransmitters is anatomically heterogeneous and, importantly, based on a complex interplay of different neurotransmitters that often exert opposing effects, thus providing a mechanism for regulating and fine tuning hemodynamic responses in specific regions.