Diabetic vascular disease and Maturity-onset diabetes of the young

Aim: Vascular disease such as cardiovascular and cerebrovascular diseases, or retinopathy, nephropathy and neuropathy are common in diabetes. Maturity - onset diabetes of the young (MODY) describes a clinically heterogeneous group of familial diabetes characterized by monogenic, autosomal dominant inheritance that generally results from beta cell dysfunction. This study aims to assess the presence of vascular complications on Portuguese patients with a clinical diagnosis of MODY.

Network Analyis Approach to Find New Candidate Genes and Pathways Involved in the Pathophysiology of Familial Hypercholesterolemia

Introduction: Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD) due to lifelong elevated plasma low-density lipoprotein (LDL) levels. Worldwide only 40 % of patients (FH+) with a clinical diagnosis of FH carry a mutation in any of the three genes (namely: LDLR, APOB, PCSK 9) that are currently known to be associated to the disease. We guess that the remaining 60 % of the patients (FH-) probably includes a high percentage of individuals with a polygenic form of dyslipidemia or an environmental form of hypercholesterolemia and a small percentage of individuals with mutations in some novel genes, never associated before with dyslipidemias. Here we present the preliminary results of an integrative approach intended to identify new candidate genes and to dissect pathways that can be dysregulated in the disease.

Using percentiles to diagnose familial hypercholesterolemia in Portugal

Aims: Familial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism, clinically characterised by high levels of low-density lipoprotein cholesterol (LDL-C) that leads to cholesterol accumulation in tendons and arteries, premature atherosclerosis and increased risk of premature coronary heart disease. In 1999, the Portuguese FH Study was established at the National Institute of Health to identify the genetic cause of hypercholesterolemia in individuals with a clinical diagnosis of FH and to perform an epidemiologic study to determine the prevalence and distribution of FH in Portugal. In the last 16 years, a genetic defect was identified in 749 patients, representing 3. 7 % of the cases estimated to exist in Portugal. Index patients were included in this study using the Simon Broome (SB) criteria. However, there are different FH clinical criteria to diagnose index cases. Since there are no clinical criteria to identify relatives with FH, the aim of this work was to investigate if a diagnostic tool based on population specific 95 th percentile improves the clinical identification of Portuguese FH patients comparing with SB criteria.

Correlation Between Sonographic and In Vivo Measurement of A1 Pulleys in Trigger Fingers

The thickness of 210 A1 pulleys of 21 male and female healthy volunteers in two different age groups (20-35 y and 50-70 y) were measured by ultrasound. In a second group, the thickness of 15 diseased A1 pulleys and 15 A1 pulleys of the corresponding other hand of 10 patients with the clinical diagnosis of trigger finger were measured by ultrasound. During open trigger finger release, a strip of A1 pulley was excised and immediately measured using an electronic caliper. The average pulley thickness of healthy volunteers was 0.43-0.47 mm, compared to 0.77-0.79 mm in patients with trigger finger. Based on the receiver operating characteristic (ROC) curve, a diagnostic cut-off value of the pulley thickness at 0.62 mm was defined in order to differ a trigger finger from a healthy finger (sensitivity and specificity of 85%). The correlation between sonographic and effective intra-operative measurements of pulley thickness was linear and very strong (Pearson coefficient 0.86-0.90). In order to distinguish between healthy and diseased A1 pulleys, 0.62 mm is a simple value to use, which can be applied regardless of age, sex, body mass index (BMI) and height in adults.

FISICO: Fast Image SegmentatIon COrrection.

BACKGROUND AND PURPOSE In clinical diagnosis, medical image segmentation plays a key role in the analysis of pathological regions. Despite advances in automatic and semi-automatic segmentation techniques, time-effective correction tools are commonly needed to improve segmentation results. Therefore, these tools must provide faster corrections with a lower number of interactions, and a user-independent solution to reduce the time frame between image acquisition and diagnosis. METHODS We present a new interactive method for correcting image segmentations. Our method provides 3D shape corrections through 2D interactions. This approach enables an intuitive and natural corrections of 3D segmentation results. The developed method has been implemented into a software tool and has been evaluated for the task of lumbar muscle and knee joint segmentations from MR images. RESULTS Experimental results show that full segmentation corrections could be performed within an average correction time of 5.5±3.3 minutes and an average of 56.5±33.1 user interactions, while maintaining the quality of the final segmentation result within an average Dice coefficient of 0.92±0.02 for both anatomies. In addition, for users with different levels of expertise, our method yields a correction time and number of interaction decrease from 38±19.2 minutes to 6.4±4.3 minutes, and 339±157.1 to 67.7±39.6 interactions, respectively.

Urinary Biomarkers Indicative of Apoptosis and Acute Kidney Injury in the Critically Ill.

BACKGROUND Apoptosis is a key mechanism involved in ischemic acute kidney injury (AKI), but its role in septic AKI is controversial. Biomarkers indicative of apoptosis could potentially detect developing AKI prior to its clinical diagnosis. METHODS As a part of the multicenter, observational FINNAKI study, we performed a pilot study among critically ill patients who developed AKI (n = 30) matched to critically ill patients without AKI (n = 30). We explored the urine and plasma levels of cytokeratin-18 neoepitope M30 (CK-18 M30), cell-free DNA, and heat shock protein 70 (HSP70) at intensive care unit (ICU) admission and 24h thereafter, before the clinical diagnosis of AKI defined by the Kidney Disease: Improving Global Outcomes -creatinine and urine output criteria. Furthermore, we performed a validation study in 197 consecutive patients in the FINNAKI cohort and analyzed the urine sample at ICU admission for CK-18 M30 levels. RESULTS In the pilot study, the urine or plasma levels of measured biomarkers at ICU admission, at 24h, or their maximum value did not differ significantly between AKI and non-AKI patients. Among 20 AKI patients without severe sepsis, the urine CK-18 M30 levels were significantly higher at 24h (median 116.0, IQR [32.3-233.0] U/L) than among those 20 patients who did not develop AKI (46.0 [0.0-54.0] U/L), P = 0.020. Neither urine cell-free DNA nor HSP70 levels significantly differed between AKI and non-AKI patients regardless of the presence of severe sepsis. In the validation study, urine CK-18 M30 level at ICU admission was not significantly higher among patients developing AKI compared to non-AKI patients regardless of the presence of severe sepsis or CKD. CONCLUSIONS Our findings do not support that apoptosis detected with CK-18 M30 level would be useful in assessing the development of AKI in the critically ill. Urine HSP or cell-free DNA levels did not differ between AKI and non-AKI patients.

Evidence of altered lumbopelvic muscle recruitment in the presence of sacroiliac joint pain

Study Design. Cross-sectional study of electromyographic onsets of trunk and hip muscles in subjects with a clinical diagnosis of sacroiliac joint pain and matched control subjects. Objectives. To determine whether muscle activation of the supporting leg was different between control subjects and subjects with sacroiliac joint pain during hip flexion in standing. Background. Activation of the trunk and gluteal muscles stabilize the pelvis for load transference; however, the temporal pattern of muscle activation and the effect of pelvic pain on temporal parameters has not been investigated. Methods. Fourteen men with a clinical diagnosis of sacroiliac joint pain and healthy age-matched control subjects were studied. Surface electromyographic activity was recorded from seven trunk and hip muscles of the supporting leg during hip flexion in standing. Onset of muscle activity relative to initiation of the task was compared between groups and between limbs. Results. The onset of obliquus internus abdominis (OI) and multifidus occurred before initiation of weight transfer in the control subjects. the onset of obliquus internus abdominis, multifidus, and gluteus maximus was delayed on the symptomatic side in subjects with sacroiliac joint pain compared with control subjects, and the onset of biceps femoris electromyographic activity was earlier. IN addition, electromyographic onsets were different between the symptomatic and asymptomatic sides in subjects with sacroiliac joint pain. Conclusions. The delayed onset of obliquus internus abdominis, multifidus, and gluteus maximus electromyographic activity of the supporting leg during hip flexion, in subjects with sacroiliac joint pain. suggests an alteration in the strategy for lumbopelvic stabilization that may disrupt load transference through the pelvis.

A multicentre, randomized, double-blind, controlled trial of nebulized epinephrine in infants with acute bronchiolitis

Background The treatment of infants with bronchiolitis is largely supportive. The role of bronchodilators is controversial. Most studies of the use of bronchodilators have enrolled small numbers of subjects and have examined only short-term outcomes, such as clinical scores. Methods We conducted a randomized, double-blind, controlled trial comparing nebulized single-isomer epinephrine with placebo in 194 infants admitted to four hospitals in Queens-land, Australia, with a clinical diagnosis of bronchiolitis. Three 4-ml doses of 1 percent nebulized epinephrine or three 4-ml doses of normal saline were administered at four-hour intervals after hospital admission. Observations were made at admission and just before, 30 minutes after, and 60 minutes after each dose. The primary outcome measures were the length of the hospital stay and the time until the infant was ready for discharge. The secondary outcome measures were the degree of change in the respiratory rate, the heart rate, and the respiratory-effort score and the time that supplemental oxygen was required. Results There were no significant overall differences between the groups in the length of the hospital stay (P=0.16) or the time until the infant was ready for discharge (P=0.86). Among infants who required supplemental oxygen and intravenous fluids, the time until the infant was ready for discharge was significantly longer in the epinephrine group than in the placebo group (P=0.02). The need for supplemental oxygen at admission had the greatest influence on the score for severity of illness and strongly predicted the length of the hospital stay and the time until the infant was ready for discharge (P

Australian and New Zealand practice in intensive care (ANZPIC II): Predictors of physician confidence to diagnose pneumonia and determine illness severity in ventilated patients

The manner in which elements of clinical history, physical examination and investigations influence subjectively assessed illness severity and outcome prediction is poorly understood. This study investigates the relationship between clinician and objectively assessed illness severity and the factors influencing clinician's diagnostic confidence and illness severity rating for ventilated patients with suspected pneumonia in the intensive care unit (ICU). A prospective study of fourteen ICUs included all ventilated admissions with a clinical diagnosis of pneumonia. Data collection included pneumonia type - community-acquired (CAP), hospital-acquired (HAP) and ventilator-associated (VAP), clinician determined illness severity (CDIS), diagnostic methods, clinical diagnostic confidence (CDC), microbiological isolates and antibiotic use. For 476 episodes of pneumonia (48% CAP, 24% HAP, 28% VAP), CDC was greatest for CAP (64% CAP, 50% HAP and 49% VAP, P < 0.01) or when pneumonia was considered life-threatening (84% high CDC, 13% medium CDC and 3% low CDC, P < 0.001). Life-threatening pneumonia was predicted by worsening gas exchange (OR 4.8, CI 95% 2.3-10.2, P < 0.001), clinical signs of consolidation (OR 2.0, CI 95% 1.2-3.2, P < 0.01) and the Sepsis-Related Organ Failure Assessment (SOFA) Score (OR 1.1, CI 95% 1.1-1.2, P < 0.001). Diagnostic confidence increased with CDIS (OR 163, CI 95% 8.4-31.4, P < 0.001), definite pathogen isolation (OR 3.3, CI 95% 2.0-5.6) and clinical signs of consolidation (OR 2.1, CI 95% 1.3-3.3, P = 0.001). Although the CDIS, SOFA Score and the Simplified Acute Physiologic Score (SAPS II) were all associated with mortality, the SAPS II Score was the best predictor of mortality (P = 0.02). Diagnostic confidence for pneumonia is moderate but increases with more classical presentations. A small set of clinical parameters influence subjective assessment. Objective assessment using SAPS II Scoring is a better predictor of mortality.

Multigradient field-active contour model for multilayer boundary detection of ultrasound rectal wall image

Extraction and reconstruction of rectal wall structures from an ultrasound image is helpful for surgeons in rectal clinical diagnosis and 3-D reconstruction of rectal structures from ultrasound images. The primary task is to extract the boundary of the muscular layers on the rectal wall. However, due to the low SNR from ultrasound imaging and the thin muscular layer structure of the rectum, this boundary detection task remains a challenge. An active contour model is an effective high-level model, which has been used successfully to aid the tasks of object representation and recognition in many image-processing applications. We present a novel multigradient field active contour algorithm with an extended ability for multiple-object detection, which overcomes some limitations of ordinary active contour models—"snakes." The core part in the algorithm is the proposal of multigradient vector fields, which are used to replace image forces in kinetic function for alternative constraints on the deformation of active contour, thereby partially solving the initialization limitation of active contour for rectal wall boundary detection. An adaptive expanding force is also added to the model to help the active contour go through the homogenous region in the image. The efficacy of the model is explained and tested on the boundary detection of a ring-shaped image, a synthetic image, and an ultrasound image. The experimental results show that the proposed multigradient field-active contour is feasible for multilayer boundary detection of rectal wall

Pitch jump probability measures for the analysis of snoring sounds in apnea

Obstructive sleep apnea (OSA) is a highly prevalent disease in which upper airways are collapsed during sleep, leading to serious consequences. The gold standard of diagnosis, called polysomnography (PSG), requires a full-night hospital stay connected to over ten channels of measurements requiring physical contact with sensors. PSG is inconvenient, expensive and unsuited for community screening. Snoring is the earliest symptom of OSA, but its potential in clinical diagnosis is not fully recognized yet. Diagnostic systems intent on using snore-related sounds (SRS) face the tough problem of how to define a snore. In this paper, we present a working definition of a snore, and propose algorithms to segment SRS into classes of pure breathing, silence and voiced/unvoiced snores. We propose a novel feature termed the 'intra-snore-pitch-jump' (ISPJ) to diagnose OSA. Working on clinical data, we show that ISPJ delivers OSA detection sensitivities of 86-100% while holding specificity at 50-80%. These numbers indicate that snore sounds and the ISPJ have the potential to be good candidates for a take-home device for OSA screening. Snore sounds have the significant advantage in that they can be conveniently acquired with low-cost non-contact equipment. The segmentation results presented in this paper have been derived using data from eight patients as the training set and another eight patients as the testing set. ISPJ-based OSA detection results have been derived using training data from 16 subjects and testing data from 29 subjects.

Psychometric assessment of recovery from mild traumatic brain injury

The Rapid Screen of Concussion (RSC) is a brief psychometric test battery, designed to provide a functional criterion to aid clinical diagnosis of mild traumatic brain injury (mTBI). The present research aimed to examine the utility of this instrument for assessing recovery after mTBI. Three studies were conducted. In Study 1, Discriminant Function Analysis was performed to determine how well the RSC differentiated uninjured controls (N¼16), from mTBI patients (N¼22) and moderate to severe TBI patients (N¼14), several months post-injury. As predicted, moderate to severe TBI patients achieved lower scores than the mTBI and control groups. The RSC also successfully differentiated between each of the diagnostic groups, yielding an overall correct classification rate of 75%. Study 2 examined the predictive utility of the RSC in the mTBI sample (N¼22). Acute injury performance on the RSC was correlated with post-injury scores at an average of 5.5 months post-injury. Statistically significant partial correlation coefficients (r¼0.53r¼0.80) were found for each of the subtests, showing that low acute RSC scores were predictive of poor recovery scores on the RSC after mTBI. In the third study, Reliable Change Indices were calculated on the RSC subtests to examine individual patterns of recovery from mTBI. While 17 of the 23 participants made a significant improvement on their acute injury DSST scores (74%), only 13 of 25 made a significant improvement on the Rapid Sentence Judgement Test (52%), highlighting differential recovery of function, and challenging the notion of full recovery from mTBI within 3 months. These overall results offer support for the construct and predictive validity of the RSC and demonstrate that inexpensive tests of brain function may be useful for managing mTBI acutely for prognosis.

TRALI in 2 cases of leukemia

We describe transfusion-related acute lung injury (TRALI) in 2 acute leukemia cases to increase awareness of this under reported serious transfusion complication syndrome in multitransfused patients. There are a number of reports in multitransfused patients with nonmalignant disorders. However, reports of pediatric oncology patients are few, suggesting a lack of recognition or misdiagnosis of the syndrome. A disproportionately high number of fatalities in children is recorded in the literature. This highlights the need for increased awareness and appropriate treatment of this serious complication of transfusion. Although TRALI is initially a clinical diagnosis, the laboratory investigation is vital as it contributes to defining the pathogenesis of the syndrome and importantly facilitates the effective management of implicated donations and donors. An investigational strategy for suspected cases is presented and the results are discussed in the context of current proposed mechanisms for TRALI. As each transfused blood product is associated with a potential risk of TRALI, more frequent reports in patients receiving large volume or recurrent transfusion would be expected.

O LÚDICO VIA FÁBULAS EM ATENDIMENTO PSICOTERAPÊUTICO: UM ESTUDO DE CASO CLÍNICO DE MOBBING

Esta pesquisa verifica a validade da utilização de fábulas em processo psicoterapêutico de paciente de Mobbing acometida de depressão e síndrome de pânico. Desenvolve-se por meio de estudo de caso avaliativo-interventivo evolutivo prolongado, com um total de 116 sessões semanais. Inicialmente realiza o diagnóstico clínico elaborado a partir do desenho da figura humana, extraído do teste projetivo House Tree and Person, de entrevista inicial semi-dirigida, e de coleta de relatos verbais e observações feitas durante os primeiros atendimentos. As sessões são realizadas com utilização ocasional de fábulas, associada ou não a técnicas de relaxamento de Schultz e Jacobson, com interpretação de sonhos e recomendação de filmes. O objetivo é verificar se as fábulas contribuem de forma positiva para o paciente compreender com mais facilidade as interpretações do psicoterapeuta, se diminui sua resistência ao falar dos seus conteúdos e se amplia à consciência simbólica. O primeiro momento interventivo tem a duração de aproximadamente 16 meses, o segundo, de 04 meses, quando é solicitado o segundo desenho e o terceiro processa-se em 09 meses, quando é solicitado o último desenho. No primeiro momento é proporcionado à paciente um ambiente facilitador com sustentação emocional (Holding), buscando resgatar sua ilusão, numa visão winnicottiana. Revela-se uma situação de Mobbing acompanhada de depressão manifesta e síndrome do pânico; com alto nível de exigência pessoal e profissional; grande passividade nos relacionamentos e na dinâmica do casal. Ao final desse momento, já consegue começar a desviar sua auto-agressividade para o meio externo de maneira mais positiva e socialmente aceita. No segundo momento predomina o encontro e aceitação de seu verdadeiro jeito de ser; enxerga o quanto estava se deixando prejudicar; mostra-se mais confiante, comunica-se e enfrenta melhor suas dificuldades afetivas. No terceiro momento demonstra estar segura e feliz. Cuida de sua aparência e sente prazer em ser notada socialmente. Demonstra ter aprendido a se defender em situações de confronto, com maior autonomia e verbaliza estar muito feliz com as mudanças, sorri com freqüência. A análise evolutiva dos desenhos confirmam esta boa evolução. A utilização de fábulas foi muito bem aceita pela paciente, que conseguiu por meio da leitura simbólica contida nas mesmas, aproximar-se de sua problemática e aprender a lidar com ela de forma mais saudável. Os resultados também indicam que a utilização de relaxamento associado à leitura das fábulas contribuiu para sua assimilação mais abrangente e profunda. O estudo ilustra a evolução do caso por meio de 24 vinhetas, devidamente analisadas em relação aos momentos descritos.(AU)

DIABETES MELLITUS TIPO1: EVOLUÇÃO DA EFICÁCIA ADAPTATIVA E PSICOTERAPIA BREVE OPERACIONALIZADA

O objetivo deste trabalho foi avaliar a eficácia adaptativa, antes e após intervenção em Psicoterapia Breve Operacionalizada em um paciente portador de Diabetes Mellitus tipo1. Os instrumentos utilizados foram a Entrevista Clínica Preventiva, a Escala Diagnóstica Adaptativa Operacionalizada EDAO e a Psicoterapia Breve Operacionalizada PBO. O delineamento desta pesquisa se deu pelo método clínico combinado ao método descritivo observacional. Foi realizado um estudo de caso com um paciente diagnosticado com Diabetes Mellitus tipo1, que foi submetido a oito entrevistas diagnósticas para a obtenção do diagnóstico clínico e em seguida a doze sessões de Psicoterapia Breve Operacionalizada. Após seis meses do término das sessões o paciente participou de uma entrevista de Follow up. O diagnóstico adaptativo, após as primeiras entrevistas foi: Adaptação Ineficaz Severa, no qual foram detectadas as situações-problemas a serem abordadas na PBO e foi organizado o planejamento desta intervenção. Finalizada a PBO e após seis meses o paciente foi submetido a uma entrevista de Follow up, no qual a classificação diagnóstica foi: Adaptação Ineficaz Leve. Conclui-se que neste estudo de caso que houve uma evolução no diagnóstico adaptativo após a intervenção em PBO, mostrando a importância do atendimento em Psicoterapia Breve Operacionalizada.