Ocular manifestations of Noonan syndrome

Purpose: To describe the ophthalmological characteristics in a group of Noonan syndrome patients with proven mutations in the PTPN11 gene. Methods: Thirty-five Noonan syndrome patients with PTPN11 gene mutations underwent ophthalmological exams, which consisted of external inspection, slit-lamp biomicroscopy examination and an ophthalmoscopic examination after instillation of 1.0% tropicamide or 1.0% cyclopentolate. Results: All 35 patients had at least one abnormality upon ophthalmological examination. The eyelid and external eye abnormalities were the prevailing features, followed by prominent corneal nerves on slit-lamp exam. Fundus changes were detected in 8% of the subjects, mainly associated with high myopia. No statistically significant differences were observed among the patients presenting specific mutations in the PTPN11 gene. Conclusions: The current study further supports the finding that ocular symptoms account for a large fraction of the clinical manifestations of NS. Additional characteristics are described here. The roles for the various mutations of PTPN11 in ocular development are yet to be established.

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11

Purpose Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations. Methods Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG). Results The patients ranged in age from 2 to 10 years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients. Conclusions Patients with KIF11 mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.

Color atlas of oral pathology : histology and embryology, developmental disturbances, diseases of the teeth and supporting structures, diseases of the oral mucosa and jaws, neoplasms /

Mode of access: Internet.

Probiotics in the prevention of clinical manifestations of common infectious diseases in children and in the elderly

Infectious diseases put an enormous burden on both children and the elderly in the forms of respiratory, gastrointestinal and oral infections. There is evidence suggesting that specific probiotics may be antagonistic to pathogens and may enhance the immune system, but the clinical evidence is still too sparce to make general conclusions on the disease-preventive effects of probiotics. This thesis, consisting of four independent, double-blind, placebo-controlled clinical trials, investigated whether Lactobacillus GG (LGG) or a specific probiotic combination containing LGG would reduce the risk of common infections or the prevalence of pathogens in healthy and infection-prone children and in independent and institutionalised elderly people. In healthy day-care children, the 7-month consumption of probiotic milk containing Lactobacillus GG appeared to postpone the first acute respiratory infection (ARI) by one week (p=0.03, adjusted p=0.16), and to reduce complicated infections (39% vs. 47%, p<0.05, adjusted p=0.13), as well as the need for antibiotic treatment (44% vs. 54%, p=0.03, adjusted p=0.08) and day-care absences (4.9 vs. 5.8 days, p=0.03, adjusted p=0.09) compared to the placebo milk. In infection-prone children, the 6-month consumption of a combination of four probiotic bacteria (LGG, L. rhamnosus LC705, Propionibacterium freudenreichii JS, Bifidobacterium breve 99) taken in capsules appeared to reduce recurrent ARIs (72% vs. 82%, p<0.05; adjusted p=0.06), and the effect was particularly noticeable in a subgroup of children with allergic diseases (12% vs. 33%, p=0.03), although no effect on the presence of nasopharyngeal rhinovirus or enterovirus was seen. The 5-month consumption of the same probiotic combination did not show any beneficial effects on the respiratory infections in frail, institutionalised elderly subjects. In healthy children receiving Lactobacillus GG, the reduction in complications resulted in a marginal reduction in the occurrence of acute otitis media (AOM) (31% vs. 39%, p=0.08; adjusted p=0.19), and the postponement of the first AOM episode by 12 days (p=0.04; adjusted p=0.09). However, in otitis-prone children, a probiotic combination did not reduce the occurrence of AOM or the total prevalence of common AOM pathogens (Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis), except in the case of children with allergic diseases, in whom probiotics reduced recurrent AOM episodes (0% vs. 14%, p=0.03). In addition, interaction between probiotics and bacterial carriage was seen: probiot-ics reduced AOM in children who did not carry any bacterial pathogens (63% vs. 83%), but the effect was the reverse in children carrying bacteria in the nasopharynx (74% vs 62%) (p<0.05). Long-term probiotic treatment, either LGG given in milk to healthy children for 7 months or a combination of probiotics given in capsules to institutionalised elderly subjects for 5 months, did not reduce the occurrence of acute diarrhoea. However, when the probiotic combination (LGG, L. rhamnosus LC705, Propionibacterium JS) was given in cheese to independent elderly subjects for 4 months, the oral carriage of high Candida counts was reduced in the probiotic group vs. the placebo group (21% vs. 34%, p=0.01, adjusted p=0.004). The risk of hyposalivation was also reduced in the probiotic group (p=0.05). In conclusion, probiotics appear to slightly alleviate the severity of infections by postponing their appearance, by reducing complications and the need for antimicrobial treatments. In addition, they appear to prevent recurrent infections in certain subgroups of children, such as in infection-prone children with allergic diseases. Alleviating ARI by probiotics may lead to a marginal reduction in the occurrence of AOM in healthy children but not in infection-prone children with disturbed nasopharyngeal microbiota. On the basis of these results it could be supposed that Lactobacillus GG or a specific combination containing LGG are effective against viral but not against bacterial otitis, and the mechanism is probably mediated through the stimulation of the immune system. A specific probiotic combination does not reduce respiratory infections in frail elderly subjects. Acute diarrhoea, either in children or in the elderly, is not prevented by the continuous, long-term consumption of probiotics, but the consumption of a specific probiotic combination in a food matrix is beneficial to the oral health of the elderly, through the reduction of the carriage of Candida.

The general practice of physic : extracted chiefly from the writings of the most celebrated practical physicians, and the Medical Essays, Transactions, Journels, and Literary Correspondence of the Learned Societies in Europe, to which is prefixed, an introduction, containing: The Distinction of Similar Diseases, The Use of the Non Naturals, An Account of the Pulse, The Consent of the Nervous Parts, and a Sketch of the Animal Oeconomy /

Mode of access: Internet.

May's Manual of the diseases of the eye for students and general practitioners.

Includes index.

The general practice of physic : extracted chiefly from the writings of the most celebrated practical physicians, and the medical essays, transactions, journals, and literary correspondence of the learned societies in Europe : to which is prefixed, an introduction, containing the distinction of similar diseases, the use of the non-naturals, an account of the pulse, the consent of the nervous parts, and a sketch of the animal œconomy /

Mode of access: Internet.

Forchheimer's therapeusis of internal diseases. General index.

Mode of access: Internet.

Prevalence of systemic diseases in Brisbane general and periodontal practice patients

Background: Periodontitis has been associated with a number of systemic diseases such as atherosclerosis, coronary heart diseases, and respiratory diseases. This study aimed to determine whether there is a significant difference in the prevalence of systemic diseases (a) in patients referred for periodontal care compared to the general practice population, (b) in patients attending a public hospital and private practices, (c) in patients attending public and private periodontal practices, and (d) among patients with periodontitis of varying severity. Methods: Charts of 1000 adult patients were selected from four clinics (University of Queensland (UQ) School of Dentistry Admissions Clinic, UQ School of Dentistry Periodontics Clinic, Private Periodontal Practice, and Private General Dental Practice). The prevalence of medical conditions was evaluated using validated self-reported health questionnaires. The periodontal condition was assessed from the most recent relevant radiographs in the files. Results: Periodontal patients had a higher prevalence of systemic diseases compared to the general practice population. Public patients had a greater prevalence of systemic diseases compared to patients in private practice for both general practice and periodontal patients. In patients with advanced periodontitis, bronchitis, hepatitis and rheumatoid arthritis were most prevalent. Patients with periodontitis also took more medications and were more likely to suffer from multiple conditions compared to the general dental population. Conclusions: Patients attending public dental facilities have an increased prevalence of systemic disease compared to those attending private practices. Furthermore periodontal patients have a greater prevalence of disease compared to general practice patients. Patients with moderate or advanced periodontitis show an increase in the prevalence of some systemic diseases previously reported to be risk factors for periodontal disease.

A pilot randomised control trial of general practitioner and exercise physiologist interventions to reduce primary cardiovascular risk in overweight patients [Abstract]

Aims & Rationale/Objectives: With the knowledge that overweight is a major public health concern in Australia, that a multidisciplinary team approach to the management of lifestyle-related conditions is supported, and that the Australian Government recently recognised the role of the exercise physiologist (EP) in reducing the health burden of disease by their inclusion for reimbursement under the Medicare Plus scheme, this study sought to undertake a pilot RCT to compare GP and EP interventions to reduce primary cardiovascular risk in the overweight general practice population. Methods and Measures: Overweight patients recruited by a convenience sample of GPs were randomised into one of three arms: the control group, or the GP or EP intervention group (in which patients received either five GP or five EP consultations over 24 weeks). Patients had baseline, 12- and 24-week measures of body composition and cardio-respiratory fitness, and completed baseline and end-of-study surveys, fasting lipids and glucose. GPs and EPs completed an end-of-study survey. Results:Sixty-seven patients attended the baseline assessment. Overall retention rate was 67%. Patients were generally satisfied with the effectiveness of the interventions and their weight reduction. Favourable trends in BMI, weight, glucose and exercise levels for GP and EP intervention groups and in physical activity levels for all groups Conclusions: This study supports the feasibility of a RCT of GP and EP interventions for decreasing primary cardiovascular risk in the overweight general practice population.

An adaptive drug delivery design using neural networks for effective treatment of infectious diseases: A simulation study

An adaptive drug delivery design is presented in this paper using neural networks for effective treatment of infectious diseases. The generic mathematical model used describes the coupled evolution of concentration of pathogens, plasma cells, antibodies and a numerical value that indicates the relative characteristic of a damaged organ due to the disease under the influence of external drugs. From a system theoretic point of view, the external drugs can be interpreted as control inputs, which can be designed based on control theoretic concepts. In this study, assuming a set of nominal parameters in the mathematical model, first a nonlinear controller (drug administration) is designed based on the principle of dynamic inversion. This nominal drug administration plan was found to be effective in curing "nominal model patients" (patients whose immunological dynamics conform to the mathematical model used for the control design exactly. However, it was found to be ineffective in curing "realistic model patients" (patients whose immunological dynamics may have off-nominal parameter values and possibly unwanted inputs) in general. Hence, to make the drug delivery dosage design more effective for realistic model patients, a model-following adaptive control design is carried out next by taking the help of neural networks, that are trained online. Simulation studies indicate that the adaptive controller proposed in this paper holds promise in killing the invading pathogens and healing the damaged organ even in the presence of parameter uncertainties and continued pathogen attack. Note that the computational requirements for computing the control are very minimal and all associated computations (including the training of neural networks) can be carried out online. However it assumes that the required diagnosis process can be carried out at a sufficient faster rate so that all the states are available for control computation.

What students can tell about lecturers when they are teaching: manifestations of confident and under-confident lecturers

Delivering a lecture requires confidence, a sound knowledge and well developed teaching skills (Cooper and Simonds, 2007, Quinn and Hughes, 2007). However, practitioners who are new to lecturing large groups in higher education may initially lack the confidence to do so which can manifest itself in their verbal and non-verbal cues and the fluency of their teaching skills. This results in the perception that students can identify the confident and non-confident teacher during a lecture (Street, 2007) and so potentially contributing to a lecturer’s level of anxiety prior to, and during, a lecture. Therefore, in the current educational climate of consumerisation, with the increased evaluation of teaching by students, having the ability to deliver high-quality, informed, and interesting lectures assumes greater significance for both lecturers and universities (Carr, 2007; Higher Education Founding Council 2008, Glass et al., 2006). This paper will present both the quantitative and qualitative data from a two-phase mixed method study with 75 nurse lecturers and 62 nursing students in one university in the United Kingdom. The study investigated the notion that lecturing has similarities to acting (Street, 2007). The findings presented here are concerned with how students perceived lecturers’ level of confidence and how lecturers believed they demonstrated confidence. In phase one a specifically designed questionnaire was distributed to both lecturers and students and a response rate of 91% (n=125) was achieved, while in phase two 12 in-depth semi-structured interviews were conducted with lecturers. Results suggested that students in a lecture could identify if the lecturer was confident or not by the way they performed a lecture. Students identified 57 manifestations of non-confidence and lecturers identified 85, while 57 manifestations of confidence were identified by students and 88 by lecturers. Overall, these fell into 12 main converse categories, ranging from body language to the use of space within the room. Both students and lecturers ranked body language, vocal qualities, delivery skills, involving the students and the ability to share knowledge as the most evident manifestations of confidence. Elements like good eye contact, smiling, speaking clearly and being fluent in the use of media recourses where all seen as manifestations confidence, conversely if these were poorly executed then a presentation of under confidence was evident. Furthermore, if the lecturer appeared enthusiastic it was clearly underpinned by the manifestation of a highly confidence lecturer who was secure in their knowledge base and teaching abilities: Some lecturers do appear enthusiastic but others don’t. I think the ones that do know what they are talking about, you can see it in their voice and in their lively body language. I think they are also good at involving the students even. I think the good ones are able to turn boring subjects into lively and interesting ones. (Student 50) Significantly more lecturers than students felt the lecturer should appear confident when lecturing. The lecturers stated it was particularly important to do so when they did not feel confident, because they were concerned with appearing capable. It seems that these students and lecturers perceived that expressive and apparently confident lecturers can make a positive impact on student groups in terms of involvement in lectures; the data also suggested the reverse, for the under confident lecturer. Findings from phase two indicated that these lecturers assumed a persona when lecturing, particularly, but not exclusively, when they were nervous. These lecturers went through a process of assuming and maintaining this persona before and during a lecture as a way of promoting their internal perceptions of confidence but also their outward manifestation of confidence. Although assuming a convincing persona may have a degree of deception about it, providing the knowledge communicated is accurate, the deception may aid rather than hinder learning, because enhances the delivery of a lecture. Therefore, the deception of acting a little more confidently than one feels might be justified when the lecturer knows the knowledge they are communicating is correct, unlike the Dr Fox Effect where the person delivering a lecture is an actor and does not know the subject in any detail or depth and where the deception to be justified (Naftulin, et al., 1973). In conclusion, these students and lecturers perceive that confident and enthusiastic lecturers communicate their passion for the subject in an interesting and meaningful manner through the use of their voice, body, space and interactions in such a way that shows confidence in their knowledge as well as their teaching abilities. If lecturers, therefore, can take a step back to consider how they deliver lectures in apparently confident ways this may increase their ability to engage their students and not only help them being perceived as good lecturers, but also contribute to the genuine act of education.

Joint and soft tissue injections in the community: questionnaire survey of general practitioners' experiences and attitudes

To investigate the numbers and types of joint and soft tissue injections performed by general practitioners (GPs) and to explore attitudes to training in joint and soft tissue injection and perceived barriers to performing injections.