Superoxide dismutases in chronic gastritis

Human gastric diseases have shown significant changes in the activity and expression of superoxide dismutase (SOD) isoforms. The aim of this study was to detect Mn‐SOD activity and expression in the tissue of gastric mucosa, primarily in chronic gastritis (immunohistochemical Helicobacter pylori‐negative gastritis, without other pathohistological changes) and to evaluate their possible connection with pathohistological diagnosis. We examined 51 consecutive outpatients undergoing endoscopy for upper gastrointestinal symptoms. Patients were classified based on their histopathological examinations and divided into three groups: 51 patients (archive samples between 2004–2009) with chronic immunohistochemical Helicobacter pylori‐negative gastritis (mononuclear cells infiltration were graded as absent, moderate, severe) divided into three groups. Severity of gastritis was graded according to the updated Sydney system. Gastric tissue samples were used to determine the expression of Mn‐SOD with anti‐Mn‐SOD Ab immunohistochemically. The Mn‐SOD expression was more frequently present in specimens with severe and moderate inflammation of gastric mucosa than in those with normal mucosa. In patients with normal histological finding, positive immunoreactivity of Mn‐SOD was not found. Our results determine the changes in Mn‐SOD expression occurring in the normal gastric mucosa that had undergone changes in the intensity of chronic inflammatory infiltrates in the lamina propria.     

The role of RhoA and Rho-associated kinase in vascular smooth muscle contraction

A variety of contractile agonists trigger activation of the small GTPase RhoA. An important target of activated RhoA in smooth muscle is Rho-associated kinase (ROK), one of the downstream targets that is the myosin binding subunit (MYPT1) of myosin light chain phosphatase (MLCP). Phosphorylation of MYPT1 at T695 by activated ROK results in a decrease in phosphatase activity of MLCP and an increase in myosin light chain (LC20) phosphorylation catalyzed by Ca²⁺/calmodulin-dependent myosin light chain kinase and/or a distinct Ca²⁺-independent kinase. LC20 phosphorylation in turn triggers cross-bridge cycling and force development. ROK also phosphorylates the cytosolic protein CPI-17 (at T38), which thereby becomes a potent inhibitor of MLCP. The RhoA/ROK pathway has been implicated in the tonic phase of force maintenance in response to various agonists, with no evident role in the phasic response, suggesting this pathway as a potential target for antihypertensive therapy. Indeed, ROK inhibitors restore normal blood pressure in several rat hypertensive models.     

Clinical features of infection caused by non-tuberculous mycobacteria: 7 years’ experience

Introduction

Non-tuberculous mycobacteria (NTM) are ubiquitous organisms associated with various infections. The aim of the study was to determine the most relevant clinical characteristics of NTM during the 7-year period.

Methodology

A retrospective study of NTM infections was conducted between January 2009 and December 2016. The American Thoracic Society/Infectious Disease Society of America criteria were used to define cases of pulmonary or an extrapulmonary site.

Results

A total of 85 patients were included in the study. Pulmonary cases predominated 83/85 (98%), while extrapulmonary NTM were present in 2/95 (2%) patients. Overall, ten different NTM species were isolated. The most common organisms were slow-growing mycobacteria (SGM) presented in 70/85 (82.35%) patients. Isolated SGM strains were Mycobacterium avium complex (MAC) in 25/85 (29.41%) patients, M. xenopi in 20/85 (23.53%) patients, M. kansasii in 15/85 (17.65%) patients and M. peregrinum and M. gordonae in 5/85 (5.88%) patients each. Isolated rapid-growing mycobacteria (RGM) strains were M. abscessus in 8/85 (9.41%) patients, M. fortuitum in 4/85 (4.71%) patients and M. chelonae in 3/85 (3.53%) patients. Almost all patients (98%; 83/85) had comorbidities. Among 75 (88.24%) patients who completed follow-up, 59 (69.41%), 10 (11.76%) and 6 (7%), were cured, experienced relapse and died, respectively.

Conclusion

In the present study, pulmonary NTM infections were more frequent compared to extrapulmonary disease forms. SGM were most common isolates with MAC pulmonary disease the most frequently found. Comorbidities have an important role in NTM occurrence. Further investigation should focus on an NTM drug susceptibility testing.

     

Distribution of KIR genes in the Croatian population

The KIR locus with genes involved in immune processes is among the most polymorphic and structurally diverse human loci. KIR genes encode activating and inhibitory receptors that differ in specificity for HLA class I ligands and signaling potential. These receptors are expressed principally by natural killer (NK) cells and subpopulations of T cells. This study represents the first report of the distribution of KIR genes, KIR genotypes and KIR/HLA pairs in 121 unrelated healthy Croatian individuals. Twenty-three different genotypes were observed in the Croatian population and all 16 KIR genes known to date were found. The most frequent KIR genotype was the AA genotype. All individuals had at least one inhibitory KIR/HLA pair with the majority of individuals with three inhibitory KIR/HLA pairs. The most frequent KIR/HLA pair was the KIR2DL3/C1 group. Our results demonstrated the similarity of the Croatian population’s KIR repertoire with other Caucasian populations reported so far.     

Delinquency in incarcerated male adolescents is associated with single parenthood,exposure to more violence at home and in the community,and poorer self-image

Aim

To assess the relationships between delinquency and demographic and family variables, academic performance, war stressors, home/community, school, and media violence exposure, self-image, and psychopathology.

Methods

This cross-sectional study included 100 delinquent, incarcerated male adolescents and 100 matched schoolchildren from Croatia. It lasted from January 2008 to June 2009, and used socio-demographic questionnaire, questionnaire on children’s stressful and traumatic war experiences, exposure to violence scale, the Offer Self-Image Questionnaire, and Youth Self-Report Questionnaire.

Results

Logistic regression analysis showed that delinquency in incarcerated adolescents was more likely related to having parents who did not live together (odds ratio [OR] 2.40; confidence interval [CI] 1.18-4.90, P = 0.015), being more exposed to violence at home/community (OR 3.84; CI 1.58-9.34, P = 0.003), and having poorer self-image (OR 1.09; CI = 1.03-1.16, P < 0.002).

Conclusion

Preventive and therapeutic interventions in incarcerated delinquents should be specifically targeted toward single parenthood, family factors, trauma oriented interventions, and focused on multiple dimensions of self-concept of adolescents.Delinquency is associated with many risk factors, including demographic, genetic, and family characteristics (single parenthood) or academic performance. Many studies have focused on exposure to various forms of violence – in the family or home; community and neighborhood; in school and peer groups; and the media, but other risk factors have also found to be important, such as poorer self-image, various forms of psychopathology, and social characteristics (neighborhoods characterized by poverty) (1-15). Most of the studies dealing with delinquency aim to develop therapeutic interventions in relation to the obtained factors or mediators (9,11,16).There are relatively few studies on incarcerated adolescents. Many report on delinquents’ traumatic experiences, posttraumatic stress disorder, and importance of developmental tasks of adolescence and parental monitoring (14,17,18). Therapeutic interventions are specifically directed toward assessment and intervention of trauma and psychopathology, and family interventions are used very often.There are not many studies on delinquents in Croatia and most of them deal with a model that takes into account the interplay between protective and risk factors (19-21). Factors that are often mentioned are parental distrust and punishment, and family dysfunctionality (22-24). The prevalence of delinquency in the last few years has not been reducing (25), which suggests that the current preventive and therapeutic efforts have not been sufficient (25). Another important factor that has to be considered when studying delinquency in Croatia is the influence of Croatian War for Independence 1991-1995. The relationship between war experiences (direct or indirect) and the development of delinquency in adolescents has been relatively rarely described, with contradictory findings. Some studies found no association between the impact of war and bullying (26), whereas others found a relationship between aggressiveness in child refugees and their past war experiences (27) or experiences of their parents, war veterans (28). Besides war-related violence, we expected that delinquency was related to the exposure to other types of violence, eg, violence at home (29). Finally, we also expected an association with poorer self-image (8) and the presence of significant psychopathological syndromes (7).Our aim was therefore to examine the relationship between demographic, family factors, academic performance, exposure to violence in different contexts (home, community, school, media, war related stress), psychopathology, and delinquency.     

Slaying the dragon myth: an ethnographic study of receptionists in UK general practice

Background

General practice receptionists fulfil an essential role in UK primary care, shaping patient access to health professionals. They are often portrayed as powerful ‘gatekeepers’. Existing literature and management initiatives advocate more training to improve their performance and, consequently, the patient experience.

Aim

To explore the complexity of the role of general practice receptionists by considering the wider practice context in which they work.

Design and setting

Ethnographic observation in seven urban general practices in the north-west of England.

Method

Seven researchers conducted 200 hours of ethnographic observation, predominantly in the reception areas of each practice. Forty-five receptionists were involved in the study and were asked about their work as they carried out their activities. Observational notes were taken. Analysis involved ascribing codes to incidents considered relevant to the role and organising these into related clusters.

Results

Receptionists were faced with the difficult task of prioritising patients, despite having little time, information, and training. They felt responsible for protecting those patients who were most vulnerable, however this was sometimes made difficult by protocols set by the GPs and by patients trying to ‘play’ the system.

Conclusion

Framing the receptionist–patient encounter as one between the ‘powerful’ and the ‘vulnerable’ gets in the way of fully understanding the complex tasks receptionists perform and the contradictions that are inherent in their role. Calls for more training, without reflective attention to practice dynamics, risk failing to address systemic problems, portraying them instead as individual failings.     

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib‐polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer‐Saldino chondrodysplasia syndromes. These three syndromes are frequently caused by mutations in intraflagellar transport (IFT) genes affecting the primary cilia, which play a crucial role in skeletal and chondral development. Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer‐Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel. We also found an enrichment of rare IFT140 alleles in JATD compared with nonciliopathy diseases, implying putative modifier effects for certain alleles. IFT140 patients presented with mild chest narrowing, but all had end‐stage renal failure under 13 years of age and retinal dystrophy when examined for ocular dysfunction. This is consistent with the severe cystic phenotype of Ift140 conditional knockout mice, and the higher level of Ift140 expression in kidney and retina compared with the skeleton at E15.5 in the mouse. IFT140 is therefore a major cause of cono‐renal syndromes (JATD and MSS). The present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy.