Developmental instability and phenotypic evolution in a small and isolated bear population.

We explored fluctuating asymmetry (FA) and morphological integration (MI) in the skull of the small, highly inbred and divergent Apennine bear (Ursus arctos marsicanus), to explore its uniqueness and investigate any potential effects of inbreeding depression. We used 3D geometric morphometrics contrasting Apennine bears with other two large outbred bear populations from Scandinavia and Kamchatka as controls. Shape divergence and variability were explored by a principal component analysis on aligned coordinates of 39 landmarks. Procrustes ANOVA, morphological disparity and the global integration index were used to explore FA, shape variance and MI. By remarking Apennine bears as a highly divergent phenotype, we recorded the highest FA and deviation from self-similarity compared with the other two control populations. We conclude that Apennine bears are likely facing developmental instability as a consequence of inbreeding depression, whereas the divergent trait covariance pattern may represent a potential source of evolutionary novelties. We discuss the implications for the conservation and management of this imperiled taxon.

Associations of the Oral Microbiota with Obesity and Menarche in Inner City Girls.

OBJECTIVE: Alterations of the oral microbiome have been associated with obesity, possibly based on inflammatory processes mediated by bacteria. Specific bacterial strains have been associated with obesity and periodontal disease. Little is known about the oral microbiome in children. Understanding the relationship between oral health and childhood growth could help identify preventable factors contributing to obesity and related conditions, including onset of menarche which is associated with obesity. METHODS: In this pilot study, we investigated the saliva microbiome among 25 girls 7-15 years old (mean 11.1) and their mothers in an inner city dental clinic in New York City. The main outcome measures were body size, presence or absence of menarche and dental practices. We examined associations of microbiome richness, diversity, and relative abundance with pubertal and demographic factors and oral health. RESULTS: Girls had good dental health and a typical rich oral microbiome, based on the Shannon Index of all species detected. Older girls flossed more often and younger girls had more frequent dental check-ups. Microbiome richness among girls was similar to their mothers', but diversity was greater among mothers than girls. Richness was reduced among mothers with gum bleeding, flossing and increased teeth brushing. Overweight girls had greater diversity and less richness than normal weight girls. Certain bacterial species differed in abundance with respect to whether girls had reached menarche (Flavobacteria, Actinobacteria), overweight (Megasphaera, Lactorbacillales, Lactobacillus) and gingivitis in the girls (Scardovia, Bifidobacteriales, Gemellaceae). CONCLUSIONS: Differences found in specific bacteria in the oral microbiome were related to body size and menarche. With increasing interest on studying microbiome variability related to the multifactorial etiology of obesity in children, saliva is capable of providing clinically informative markers of this and related conditions.

Screening for Chlamydia is acceptable and feasible during Cervical Screening in General Practice.

The incidence of Chlamydia trachomatis (CT) & Neisseria gonorrhoeae (NG) are rising in Ireland. Both are often undiagnosed and may cause infertility amongst other complications. CT/NG screening is not routinely offered during cervical cancer screening. This study aimed to ascertain the feasibility and acceptability of screening for CT/NG at time of smear and to measure the diagnostic yield. Screening was offered to women aged 25-40 years attending four participating general practices as part of Cervical Check. A retrospective review of the three months preceding the study period, indicated that out of 138 smears, CT/NG testing was performed in 10 (7%) of cases. 236 (93%) patients consented to screening for CT/NG. The detection rate for Chlamydia was 6 (2.4%), with no positive results for NG. Feedback from patients was positive. Interestingly, 42 (18%) of participants who completed the questionnaire believed STI screening was already part of the routine smear.

Insights and Concerns of Patients and GPs Regarding Introduction of Universal Health Insurance in Ireland.

The implementation of a universal health insurance (UHI) model is a key political policy in Ireland. The objective here was to determine the understanding of general practitioners (GPs) and patients regarding UHI, its implementation and impact on both sets of stakeholders. Postal questionnaire to GPs, and opportunistic survey sampling of patients in two different GP practices were carried out. Response rates were 92.5% (patients) and 78% (GPs). 79.4% of patients (n = 418) and 96.7% of GPs (n = 149) have a 'poor' understanding of how UHI will be implemented. 89% (n = 493) of patients and 98.7% (n = 153) of GPs feel government communication about UHI has been 'poor'. 98.1% of GPs (n = 152) and 77.3% of patients (n = 383) are not confident that 'UHI will be ready for implementation by 2015'. Neither stakeholder group is confident in the government's ability to deliver UHI within the given timeframe. There is a lack of knowledge and consultation on proposals for its implementation.

Clinically significant extra-cardiac findings in asymptomatic HIV-positive men undergoing cardiac magnetic resonance imaging.

Increased research-based imaging has led to an increase in clinically significant extra-cardiac findings. HIV patients are at increased risk of having polypathology at a younger age; therefore, it may be hypothesised that they would have more incidental findings on imaging. We reviewed the magnetic resonance imaging results of 169 HIV-positive and 40 HIV-negative, clinically well volunteers undergoing cardiac magnetic resonance imaging scanning to assess the prevalence of subclinical cardiac pathology. This sub-study assessed the prevalence of clinically significant extra-cardiac findings. Associated risk factors were assessed and clinical follow-up and outcome were ascertained. Of the HIV-positive study group, 12/169 (7.1%) vs. 1/40 (2.5%) control patients had a clinically significant extra-cardiac finding which warranted further radiological or clinical intervention (p = 0.28). A total of three out of 169 (1.1%) were highly clinically significant findings. On logistic regression analysis, age was the only significant contributing factor (p = 0.049); no HIV-associated factors were found to be significant. The prevalence of clinically significant extra-cardiac findings of 7.1% in this HIV-positive cohort is comparable to the prevalence found in previous studies carried out on an older, sicker general population. This highlights the need for planning for unexpected outcomes and also the high rate of clinically significant findings in a seemingly well HIV-positive population.

Testing convergent and parallel adaptations in talpids humeral mechanical performance by means of geometric morphometrics and finite element analysis.

The shape and mechanical performance in Talpidae humeri were studied by means of Geometric Morphometrics and Finite Element Analysis, including both extinct and extant taxa. The aim of this study was to test whether the ability to dig, quantified by humerus mechanical performance, was characterized by convergent or parallel adaptations in different clades of complex tunnel digger within Talpidae, that is, Talpinae+Condylura (monophyletic) and some complex tunnel diggers not belonging to this clade. Our results suggest that the pattern underlying Talpidae humerus evolution is evolutionary parallelism. However, this insight changed to true convergence when we tested an alternative phylogeny based on molecular data, with Condylura moved to a more basal phylogenetic position. Shape and performance analyses, as well as specific comparative methods, provided strong evidence that the ability to dig complex tunnels reached a functional optimum in distantly related taxa. This was also confirmed by the lower phenotypic variance in complex tunnel digger taxa, compared to non-complex tunnel diggers. Evolutionary rates of phenotypic change showed a smooth deceleration in correspondence with the most recent common ancestor of the Talpinae+Condylura clade.

Molecular systematics and evolutionary biogeography of the genus Talpa (Soricomorpha: Talpidae).

The range of the genus Talpa covers almost all Europe up to Western Asia. This genus has never been the object of comprehensive systematic studies using molecular and genetic techniques, such that the evolutionary relationships among species remain unclear. Talpa shows high levels of endemism, and the influence of past glaciation cycles on the distribution pattern of several species has been hypothesized. In this work, we assessed the molecular systematics of the genus using the mitochondrial gene cytochrome b from eight of the nine extant species of Talpa moles. Furthermore, molecular clock estimations were used to hypothesize a biogeographic scenario in concordance with fossil data. Results suggest a monophyletic origin of the genus and a common ancestor for the western European moles T. europaea, T. caeca, T. romana and T. occidentalis. The eastern species T. altaica and T. caucasica are basally divergent. The estimated ages of divergence among lineages are in accordance with a Miocene origin of the extant moles. The genus likely originated in Asia, spreading into Europe during the Pliocene. The evolution of moles appears to have been driven by changes in moisture levels that influenced extinction and speciation events during the Miocene and the Pliocene. Pleistocene climatic oscillations likely caused the range shrinkages and expansions that led to the current distribution pattern of most Talpa species.

Prevalence and challenge tests of Listeria monocytogenes in Belgian produced and retailed mayonnaise-based deli-salads, cooked meat products and smoked fish between 2005 and 2007.

Processed ready-to-eat (RTE) foods with a prolonged shelf-life under refrigeration are at risk products for listeriosis. This manuscript provides an overview of prevalence data (n=1974) and challenge tests (n=299) related to Listeria monocytogenes for three categories of RTE food i) mayonnaise-based deli-salads (1187 presence/absence tests and 182 challenge tests), ii) cooked meat products (639 presence/absence tests and 92 challenge tests), and iii) smoked fish (90 presence/absence tests and 25 challenge tests), based on data records obtained from various food business operators in Belgium in the frame of the validation and verification of their HACCP plans over the period 2005-2007. Overall, the prevalence of L. monocytogenes in these RTE foods in the present study was lower compared to former studies in Belgium. For mayonnaise-based deli-salads, in 80 out of 1187 samples (6.7%) the pathogen was detected in 25 g. L. monocytogenes positive samples were often associated with smoked fish deli-salads. Cooked meat products showed a 1.1% (n=639) prevalence of the pathogen. For both food categories, numbers per gram never exceeded 100 CFU. L. monocytogenes was detected in 27.8% (25/90) smoked fish samples, while 4/25 positive samples failed to comply to the 100 CFU/g limit set out in EU Regulation 2073/2005. Challenge testing showed growth potential in 18/182 (9.9%) deli-salads and 61/92 (66%) cooked meat products. Nevertheless, both for deli-salads and cooked meat products, appropriate product formulation and storage conditions based upon hurdle technology could guarantee no growth of L. monocytogenes throughout the shelf-life as specified by the food business operator. Challenge testing of smoked fish showed growth of L. monocytogenes in 12/25 samples stored for 3-4 weeks at 4 degrees C. Of 45 (non-inoculated) smoked fish samples (13 of which were initially positive in 25 g) which were subjected to shelf-life testing, numbers exceeded 100 CFU/g in only one sample after storage until the end of shelf-life. Predictive models, dedicated to and validated for a particular food category, taking into account the inhibitory effect of various factors in hurdle technology, provided predictions of growth potential of L. monocytogenes corresponding to observed growth in challenge testing. Based on the combined prevalence data and growth potential, mayonnaise-based deli-salads and cooked meat products can be classified as intermediate risk foods, smoked fish as a high risk food.

Methotrexate improves the health-related quality of life of children with juvenile idiopathic arthritis.

OBJECTIVES: To examine the change in health-related quality of life (HRQOL) and its determinants in children with juvenile idiopathic arthritis (JIA) treated with methotrexate (MTX). METHODS: Patients were extracted from the PRINTO clinical trial which aimed to evaluate the efficacy and safety profile of MTX administered in standard, intermediate or higher doses (10, 15 and 30 mg/m(2)/week respectively). Children with polyarticular-course JIA, who were less than 18 years and had a complete HRQOL assessment were included. RESULTS: A total of 521 children were included. At baseline, patients with JIA showed poorer HRQOL (p<0.01) than healthy children. In 207/412 (50%) and 63 (15%) children, HRQOL values were 2 standard deviations below the mean of healthy controls in the physical and psychosocial summary scale, respectively. After 6 months of treatment with standard dose MTX, there was a statistically significant improvement in all HRQOL health concepts, particularly the physical ones. Similar improvements were observed in those who did not respond to a standard dose of MTX and were subsequently randomised to a higher dose. The presence of marked disability at baseline was associated with a fivefold increased risk of retaining poor physical health after 6 months of active treatment with standard dose MTX. Other less important determinants of retaining poor physical well-being were the baseline level of systemic inflammation, pain intensity and an antinuclear-antibody-negative status. CONCLUSIONS: MTX treatment produces a significant improvement across a wide range of HRQOL components, particularly in the physical domains, in patients with JIA.

Macrophage activation syndrome in juvenile systemic lupus erythematosus: an under-recognized complication?

Macrophage activation syndrome (MAS) is a life-threatening complication of rheumatic diseases that is thought to be caused by the activation and uncontrolled proliferation of T lymphocytes and macrophages, leading to widespread haemophagocytosis and cytokine overproduction. It is seen most commonly in systemic juvenile idiopathic arthritis, but is increasingly recognized also in juvenile systemic lupus erythematosus (J-SLE). Recognition of MAS in patients with J-SLE is often challenging because it may mimic the clinical features of the underlying disease or be confused with an infectious complication. This review summarizes the characteristics of patients with J-SLE-associated MAS reported in the literature or seen by the authors and analyses the distinctive clinical, diagnostic and therapeutic issues that the occurrence of MAS may raise in patients with J-SLE.

Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency.

This report describes the case of a boy with prolidase deficiency who presented with splenomegaly and leg ulcers. Laboratory examination revealed hypergammaglobulinaemia, hyperimmunoglobulinaemia E, increased erythrocyte sedimentation rate, elevated transaminases, positive antinuclear and anti-double-stranded DNA antibodies, and complement consumption. No haematological, renal or articular problems were detected; neutrophil count was normal. The skin lesions were thought to be of vasculitic origin, and a diagnosis of systemic lupus erythematosus was made although the requirements for diagnosis of systemic lupus erythematosus based on American Rheumatism Association criteria were not satisfied. The child was treated with immunosuppressive drugs with worsening of skin lesions before the diagnosis of prolidase deficiency. Prolidase deficiency and systemic lupus erythematosus share a number of common immunological features and at least three patients with prolidase deficiency and immunological and clinical findings fulfilling the diagnostic criteria for systemic lupus erythematosus of the American Rheumatism Association are reported in the literature. Here we review pathogenetic hypothesis linking the metabolic defect to the disturbance in immune function. In particular we discuss the role of highly increased rates of apoptosis and/or abnormal processing of apoptotic keratinocytes in prolidase deficiency and the role of C1q deficiency, which is associated with the failure of normal clearance of apoptotic cells bearing on their surfaces many of the autoantigens involved in systemic lupus erythematosus.

Weighting improves the information provided by joint counts on the severity of arthritis and its impact on patients' well-being in juvenile idiopathic arthritis.

OBJECTIVE: To develop a scoring system for juvenile idiopathic arthritis (JIA) in which joints are weighted to reflect their relative importance to children's function and to examine whether weighting increases the correlation of joint counts with subjective and laboratory outcome measures. METHODS: A weighted joint score was devised by a panel of experienced paediatric rheumatologists, who assigned a weight from 1 (not very important) to 10 (essential for key functional activities) to each joint based on its functional importance to children's physical and daily activities. The associations of simple and weighted counts of swollen, tender, limited and active joints with the physician's global assessment of overall disease activity, the parent's global assessment of the child's overall well-being and intensity of pain, the Childhood Health Assessment Questionnaire (C-HAQ), the Child Health Questionnaire (CHQ) and the erythrocyte sedimentation rate were compared using Spearman's correlation analysis in 60 unselected patients seen in the clinic and in 61 consecutive patients with disease duration > or = 5 yr. RESULTS: Weighted counts of swollen and active joints yielded greater correlation with the physician's global assessment than did simple counts. The correlation of weighted counts of swollen, painful and active joints with the parent's assessment of overall well-being and intensity of pain was superior to that provided by simple counts. Weighting increased most of the correlations between joint counts and the C-HAQ score and the physical component of the CHQ. CONCLUSION: Weighting improves the information provided by joint counts on the severity of arthritis and its impact on patients' well-being.

Cyclooxygenase-2 expression in Warthin's tumour.

OBJECTIVES: To determine whether cyclooxygenase-2 (COX-2) is overexpressed in Warthin's tumours, and to characterize its pattern of expression. METHODS: Twenty-one paraffin-embedded Warthin's tumour specimens were analysed by immunohistochemical staining for expression of human COX-2. Semi-quantitative analysis of the staining was performed. RESULTS: In all of the specimens, we found that there was overexpression of COX-2 within the epithelial component of the tumours, with no expression in the lymphoid components. There was also overexpression of COX-2 in the salivary duct system of normal parotid tissue. CONCLUSIONS: Our results suggest that COX-2 is up-regulated in the epithelial component of Warthin's tumours. Our findings support the hypothesis that Warthin's tumours originate from heterotopic ductal epithelial cells of the parotid gland. The role of COX-2 expression in the pathogenesis of Warthin's tumours remains to be determined.

Head and neck cancer after foreign body ingestion.

INTRODUCTION: Ingestion of a foreign body is a common occurrence in our population. We present 2 cases that illustrate an unusual outcome of an otherwise usual occurrence. CLINICAL PICTURE: Two patients who presented with a history of ingestion of fish bones were worked up. The radiological findings were suspicious of a foreign body and both underwent examination under general anaesthesia. The endoscopic findings were normal. After further evaluation for persistent calcifications with computed tomography, a thyroid malignancy was found in the first patient and tongue cancer in the second patient. TREATMENT: The first patient underwent elective hemithyroidectomy and the second underwent wide excision of the tumour with neck dissection. OUTCOME: Both recovered uneventfully with regular follow-up in the outpatient clinic. CONCLUSION: There should be a high index of suspicion in patients with persistent calcifications.

Microbiology of chronic suppurative otitis media in Singapore.

The objective of the study was to study the microflora and the antibiograms of patients with chronic suppurative otitis media (CSOM) in Singapore. Ninety patients with CSOM were prospectively studied. They had chronic ear discharge and had not received antibiotics for the previous five days. Swabs were taken, and cultured for bacteria. Antibiotic testing was done using modified Kirby Bauer disk diffusion method. In addition to the usual antibiotics, the three most common topically available antibiotics (chloramphenicol, gentamicin and neomycin) were tested. There were 135 positive cultures for organisms from the 90 patients. The most common causal organisms isolated were Pseudomonas aeruginosa (33.3%) and Staphylococcus aureus (33.3%) followed by coagulase negative Staphylococcus (21.1%). Fungi accounted for 8.8% of isolates while 6.6% were anaerobes. Of the three antibiotics commonly available as topical eardrops, gentamicin has the highest susceptibility rate (82.6%), followed by neomycin (67.8%) and chloramphenicol (62.8%).

Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

We report on an Italian patient affected by severe lymphedema of lower limbs, genitalia and face, intestinal lymphangiectasia, seizures, and moderate mental retardation. He has a flat face, flat nasal bridge, and hypertelorism. We propose that he presents with a severe form of Hennekam syndrome.

Shape changes and growth trajectories in the early stages of three species of the genus Diplodus (Perciformes, Sparidae).

The larvae of three species of the genus Diplodus (Diplodus vulgaris, D. sargus, and D. puntazzo) colonize shallow waters along the Mediterranean coasts and, after a short period spent in the water column, they settle. For all three species this habitat transition is characterized by important shape changes mostly related to swimming capacity and feeding behavior. In this study, geometric morphometrics are used to characterize shape changes during the early juvenile life of specimens collected in a single locality in order to compare growth curves and allometric relationships. Size-related shape changes proved to be similar for all three species and are consistent with the ecological transition. A nonparametric smoothing technique (Loess) was used to fit the scatter of shape on size. The graphical representation (of most size-related shape variability) of this fitting technique shows how major shape changes are rapid for small sizes and slow down successively. The approach allows for the visualization of allometry and the fitting technique might help in defining the allometric growth pattern, thus contributing to the study of the autoecology of the species and in establishing terms for comparison with other ecologically or phylogenetically related species.