Hyperprolinemia as a clue in the diagnosis of a patient with a psychiatric disorder

Background: Over the last few years, microdeletions of the 22q11.2 region responsible for DiGeorge syndrome, or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorders. These signs seem to be related to certain genes located in the hemideleted region as the proline dehydrogenase (PRODH) and the catecholo-methyltransferase (COMT) genes. The PRODH or proline oxidase deficiency is responsible for hyperprolinemia type 1 (HPI) also causing psychiatric manifestations. Case Report: We describe a 17 year old boy with previous mild psychomotor and speech delay, mild cognitive impairment, and obsessive behaviours who started his adolescent psychiatric care presenting irritablemood and aggressive behaviour with schizophrenia symptoms that scored a “severely ill” level PANSS assessment. Symptoms got worse when he was treated with valproic acid and plasma aminoacids showing increase in alanine and proline, suggested a mitochondrial involvement of the proline metabolic pathway. Results: Mild dysmorphia suggested a possible 22q11.2 deletion genetically confirmed involving both the PRODH and COMT regions. HPI that can present with psychiatric features is however a recessive disorder and therefore the symptoms could not be solely explained by this genetic deletion. Additional investigations also showed disclosed a p.L289m (c.1865 T > A) mutation in the PRODH gene. Discussion: We believe that the association of this mutation together with the 22q11.2 deletion would lead to a decrease of functional protein. Although it may be difficult to diagnosis chromosomal abnormalities in patients with no clear malformations and mild dysmorphic features as in this patient we emphasize need to investigate the aetiology in patients with psychiatric symptoms, especially if they have other systemic manifestations such as developmental delay or psychotic symptoms, as it may be important in the management of the patients.

Capturing User Requirements in Medical Device Development: The Role of Ergonomics

Measuring and fulfilling user requirements during medical device development will result in successful products that improve patient safety, improve device effectiveness and reduce product recalls and modifications. Medical device users are an extremely heterogeneous group and for any one device the users may include patients, their carers as well as various healthcare professionals. There are a number of factors that make capturing user requirements for medical device development challenging including the ethical and research governance involved with studying users as well as the inevitable time and financial constraints. Most ergonomics research methods have been developed in response to such practical constraints and a number of these have potential for medical device development. Some are suitable for specific points in the device cycle such as contextual inquiry and ethnography, others, such as usability tests and focus groups may be used throughout development. When designing user research there are a number of factors that may affect the quality of data collected including the sample of users studied, the use of proxies instead of real end-users and the context in which the research is performed. As different methods are effective in identifying different types of data, ideally more than one method should be used at each point in development, however financial and time factors may often constrain this.

Should female health providers be involved in medical male circumcision? Narratives of newly circumcised men in Malawi

Background The Malawi government has endorsed voluntary medical male circumcision (VMMC) as a biomedical strategy for HIV prevention after a decade of debating its effectiveness in the local setting. The “policy” recommends that male circumcision (MC) should be clinically based, as opposed to the alternative of traditional male circumcision (TMC). Limited finances, acceptability concerns, and the health system’s limited capacity to meet demand are among the challenges threatening the mass rollout of VMMC. In terms of acceptability, the gender of clinicians conducting the operations may particularly influence health facility-based circumcision. This study explored the acceptability, by male clients, of female clinicians taking part in the circumcision procedure. Methods Six focus group discussions (FGDs) were conducted, with a total of 47 newly circumcised men from non-circumcising ethnic groups in Malawi participating in this study. The men had been circumcised at three health facilities in Lilongwe District in 2010. Data were audio recorded and transcribed verbatim. Data were analysed using narrative analysis. Results Participants in the FGDs indicated that they were not comfortable with women clinicians being part of the circumcising team. While few mentioned that they were not entirely opposed to female health providers’ participation, arguing that their involvement was similar to male clinicians’ involvement in child delivery, most of them opposed to female involvement, arguing that MC was not an illness that necessitates the involvement of clinicians regardless of their gender. Most of the participants said that it was not negotiable for females to be involved, as they could wait until an all-male clinician team could be available. Thematically, the arguments against female clinicians’ involvement include sexual undertones and the influences of traditional male circumcision practices, among others. Conclusion Men preferred that VMMC should be conducted by male health providers only. Traditionally, male circumcision has been a male-only affair shrouded in secrecy and rituals. Although being medical, this study strongly suggested that it may be difficult for VMMC to immediately move to a public space where female health providers can participate, even for men coming from traditionally non-circumcising backgrounds.

How does the healthcare industry involve users in medical device development? Pointers for UbiHealth

This paper introduces the Multidisciplinary Assessment of Technology Centre for Healthcare (MATCH) and outlines the problem of integrating a user-centred approach for development of medical devices together with the information and communication technology environments in which they are increasingly required to operate. We highlight some of the regulatory requirements that are relevant to user needs consideration in medical device development. Finally, we reveal a range of limitations in the current practice of the medical device industry in the area of user needs capture, based on responses from interviews with MATCH’s industry partners.

Arsenic bioleaching in medical realgar ore and arsenicbearing refractory gold ore by combination of Acidithiobacillus ferrooxidans and Acidithiobacillus thiooxidans

Purpose: To develop a novel biotechnological method for removing toxic arsenic from two kinds of representative arsenic-containing ores using different mixed mesophilic acidophiles. Methods: Bioleaching of the two types of arsenic-containing ores by mixed arsenic-unadapted Acidithiobacillus ferrooxidans and Acidithiobacillus thiooxidans or mixed arsenic-adapted cultures, were carried out. Arsenic bioleaching ratios in the various leachates were determined and compared. Results: The results showed that the maximum arsenic leaching ratio obtained from realgar in the presence of mixed adapted cultures was 28.6 %. However, the maximum arsenic leaching ratio from realgar in the presence of mixed unadapted strains was only 12.4 %. Besides, maximum arsenic leaching ratios from arsenic-bearing refractory gold ore by mixed adapted strains or unadapted strains were 45.0 and 22.9 %, respectively. Oxidation of these two ores by sulfuric acid was insignificant, as maximum arsenic leaching ratios of realgar and arsenic-bearing refractory gold ore in the absence of any bacterium were only 2.8 and 11.2 %, respectively. Conclusion: Arsenic leaching ratio of realgar and refractory gold ore can be enhanced significantly in the presence of arsenic-adapted mesophilic acidophiles.

Efficient representation of texture details in medical images by fusion of Ripplet and DDCT transformed images

Purpose: To evaluate and compare the performance of Ripplet Type-1 transform and directional discrete cosine transform (DDCT) and their combinations for improved representation of MRI images while preserving its fine features such as edges along the smooth curves and textures. Methods: In a novel image representation method based on fusion of Ripplet type-1 and conventional/directional DCT transforms, source images were enhanced in terms of visual quality using Ripplet and DDCT and their various combinations. The enhancement achieved was quantified on the basis of peak signal to noise ratio (PSNR), mean square error (MSE), structural content (SC), average difference (AD), maximum difference (MD), normalized cross correlation (NCC), and normalized absolute error (NAE). To determine the attributes of both transforms, these transforms were combined to represent the entire image as well. All the possible combinations were tested to present a complete study of combinations of the transforms and the contrasts were evaluated amongst all the combinations. Results: While using the direct combining method (DDCT) first and then the Ripplet method, a PSNR value of 32.3512 was obtained which is comparatively higher than the PSNR values of the other combinations. This novel designed technique gives PSNR value approximately equal to the PSNR’s of parent techniques. Along with this, it was able to preserve edge information, texture information and various other directional image features. The fusion of DDCT followed by the Ripplet reproduced the best images. Conclusion: The transformation of images using Ripplet followed by DDCT ensures a more efficient method for the representation of images with preservation of its fine details like edges and textures.

Systems 1 and 2 thinking processes and cognitive reflection testing in medical students

Background: Diagnostic decision-making is made through a combination of Systems 1 (intuition or pattern-recognition) and Systems 2 (analytic) thinking. The purpose of this study was to use the Cognitive Reflection Test (CRT) to evaluate and compare the level of Systems 1 and 2 thinking among medical students in pre-clinical and clinical programs. Methods: The CRT is a three-question test designed to measure the ability of respondents to activate metacognitive processes and switch to System 2 (analytic) thinking where System 1 (intuitive) thinking would lead them astray. Each CRT question has a correct analytical (System 2) answer and an incorrect intuitive (System 1) answer. A group of medical students in Years 2 & 3 (pre-clinical) and Years 4 (in clinical practice) of a 5-year medical degree were studied. Results: Ten percent (13/128) of students had the intuitive answers to the three questions (suggesting they generally relied on System 1 thinking) while almost half (44%) answered all three correctly (indicating full analytical, System 2 thinking). Only 3-13% had incorrect answers (i.e. that were neither the analytical nor the intuitive responses). Non-native English speaking students (n = 11) had a lower mean number of correct answers compared to native English speakers (n = 117: 1.0 s 2.12 respectfully: p < 0.01). As students progressed through questions 1 to 3, the percentage of correct System 2 answers increased and the percentage of intuitive answers decreased in both the pre-clinical and clinical students. Conclusions: Up to half of the medical students demonstrated full or partial reliance on System 1 (intuitive) thinking in response to these analytical questions. While their CRT performance has no claims to make as to their future expertise as clinicians, the test may be used in helping students to understand the importance of awareness and regulation of their thinking processes in clinical practice.

The impact of ethics education in medical laboratory science.

Teachers and students were asked what ethics education is offered in their program. The survey of the teachers regarding ethics education revealed some differences between english and french schools. It was found that franch schools favoured ethics courses taught by philosophers while english schools favoured ethics courses taught by health care providers. Furthermore, case studies were reported to be used more often in english schools and more often in assignments. However, regarless of the differences, 87 % of teachers agreed that ethics training is a high priority and most teachers thought that ethics training in their programs was adequate. At same time, students were asked to answer some questions that involved ethical dilemmas wherein some moral decisions would have to be made. Their responses revealed their level of moral development, based on Kohlberg's theory of moral development. The impact of ethics courses in the curriculum on moral development was correlated taking into account what ethics education students actually received with what year-of-study they were in (1st year, end of program or two years post graduation). Students were presented scenarios about falsifying records, communication, student dishonesty and preanalytical impact on patient care. These are authentic issues that technologists face on a daily basis. In reply to multiple-choice questions, respondents chose, in order of personal preference, the three best answers out of six offered to complete a statement regarding ethics. Statistical analysis was performed using SPSS (Statistical Package for Social Studies), employing crosstabulations and Oneway Anova. Factors including respondents age range, mother tongue, gendre, and years of schooling were considered.

Doppler ultrasound in the diagnosis of early pregnancy in sheep.

2016

Use of algorithms for semi-automatic quantification of pulmonary fibrosis and emphysema

Obtaining a semi-automatic quantification of pathologies found in the lung, through images of high resolution computed tomography (HRCT), is of great importance to aid in medical diagnosis. Paraccocidioidomycosis (PCM) is a systemic disease that affects the lung and even after effective treatment leaves sequels such as pulmonary fibrosis and emphysema. It is very important to the area of tropical diseases that the lung injury be quantified more accurately. In this stud, we propose the development of algorithms in computational environment Matlab® able to objectively quantify lung diseases such as fibrosis and emphysema. The program consists in selecting the region of interest (ROI), and through the use of density masks and filters, obtaining the lesion area quantification in relation to the healthy area of the lung. The proposed method was tested on 15 exams of HRCT of patients with confirmed PCM. To prove the validity and effectiveness of the method, we used a virtual phantom, also developed in this research. © 2013 Springer-Verlag.

Aplicação e contribuição da cromoendoscopia no trato digestório superior de cães, uilizando Lugol, Índigo Carmim e Azul de Metileno

Pós-graduação em Medicina Veterinária - FMVZ

Estudo de um método automatizado para o cálculo da profundidade de visualização dos equipamentos de ultrassonografia

Ultrasound is the term that describes the sound waves with higher frequencies than human hearing. Ultrasound used in medical diagnosis is a modality based on the use of sound energy and the acoustic properties of the various parts of the body to produce images of stationary and moving tissues. However, despite the ease of use and security that this modality offers for not using ionizing radiation, one should ensure the accuracy and optimum performance of the equipment, which results in precise diagnoses. To accomplish that, periodic quality control tests must be performed, which include: physical and mechanical inspection of the equipment, image uniformity, depth of penetration/visualization, accuracy of distances, axial and lateral resolution, dead zone and doppler sensitivity. This work intends to study a computerized method for calculating the depth of penetration of ultrasound, comparing it to the observerdependent method currently used. The images were collected during the quality control tests of ultrasound equipment. The results of the comparison between the visual and computerized methods were not conclusive for selecting the safest methodology for obtaining the depth of visualization

Síntese e caracterização de ferritas de manganês e zinco visando aplicação como agente de contraste em diagnóstico médico

This work aims to synthesize the manganese and zinc ferrite, by the polymeric precursor method, in order to obtain materials with appropriate characteristics for the application in medical diagnosis techniques. The manganese and zinc ferrite powders with the composition of Mn(1-x)ZnxFe2O4, where x=0,23, were prepared and calcined in air at different times and temperatures. The X-ray diffraction (XRD) data show that the sample calcined at 400°C crystallize as ferrite (monophase), but in an inverted spinel structure (high content of iron occupying manganese tetrahedral site and manganese occupying the iron octahedral site). The samples calcined at temperatures between 600°C and 900°C shows the secondary phase of hematite and the sample calcined at 1100oC shows to be monophase in ferrite with normal spinel structure. The monophase powders of ferrite showed a reduction in the surface area and an increasing in the pore size for higher calcination temperatures. The magnetic analysis show that the sample calcined at 400°C presents satisfactory magnetization at room temperature, however, it behaves as diamagnetic material at low temperatures (10K). The powder containing hematite, without the partial substitution of iron ions by manganese, showed to have low transition temperature, and consequently low magnetization at room temperature. The hematite, when partially substituted, provides materials with irregular magnetization at the saturation region. The powder calcined at 1100°C shows high magnetization either at room temperature or low temperature (10K)

Diagnóstico por imagem nas enfermidades tireoidianas em cães: revisão

The diagnosis of various diseases has become more accessible and accurate with the rapid development of imaging modalities aiming to assist in medical diagnosis, and thereby in veterinary medicine. Different diagnostic imaging modalities such as ultrasonography, computed tomography, magnetic resonance imaging and scintigraphy can be performed to obtain information about thyroid diseases, each one with advantages and disadvantages, depending on the thyroid disease in question. Diagnostic imaging is a tool that not only assists in the diagnosis, but also helps treatment and assessment of prognosis of thyroid diseases. The aim of this article is to discuss the limitations and benefits of each diagnostic imaging modality available in the veterinary medical field, and also to present the newest diagnostic imaging modalities in order to maximize and make more accurate diagnosis of thyroid diseases.