Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.

We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity of this new mutation, displaying a 2-fold reduction in protein expression and current density due to a maturation/trafficking-deficient mechanism. The patient's phenotype can be fully explained by this observation. This study illustrates the importance of performing genetic analyses and mutation characterization when there is a suspicion of congenital LQTS. Identifying mutations in the PAS domain or other domains of the hERG1 channel and understanding their effect may provide more focused and mutation-specific risk assessment in this population.

Patient-specific computational hemodynamics of intracranial aneurysms from 3D rotational angiography and CT angiography: an in vivo reproducibility study

Patient-specific simulations of the hemodynamics in intracranial aneurysms can be constructed by using image-based vascular models and CFD techniques. This work evaluates the impact of the choice of imaging technique on these simulations

Optimisation des doses en tomographie computérisée pédiatrique [Patient dose optimization in pediatric computerized tomography]

The development of CT applications might become a public health problem if no effort is made on the justification and the optimisation of the examinations. This paper presents some hints to assure that the risk-benefit compromise remains in favour of the patient, especially when one deals with the examinations of young patients. In this context a particular attention has to be made on the justification of the examination. When performing the acquisition one needs to optimise the extension of the volume investigated together with the number of acquisition sequences used. Finally, the use of automatic exposure systems, now available on all the units, and the use of the Diagnostic Reference Levels (DRL) should allow help radiologists to control the exposure of their patients.

Prise en charge du patient avec bronchopneumopathie obstructive: ambulatoire ou hospitalière [Management of the patient with COPD: home case or hospitalization].

Acute exacerbation of COPD is one of the most common causes of hospital admission in patients affected with this disease. In most cases, consideration of differential diagnoses and assessment of important comorbidities will allow to make the decision whether or not the patient needs to be hospitalized. A decision to hospitalize will be based on specific symptoms and signs, as well on the patient's history. Contrary to bronchial asthma, a systematic action plan strategy is lacking for COPD. However, a disease management plan involving all the health care providers may have the potential to improve the patient's well being and to decrease costs related to these exacerbations.

Improving patient safety: how and why incidences occur in nursing care

The present investigation was a cross-sectional, quantitative research study analyzing incidents associated with nursing care using a root-cause methodological analysis. The study was conducted in a public hospital intensive care unit (ICU) in Santiago de Chile and investigated 18 incidents related to nursing care that occurred from January to March of 2012. The sample was composed of six cases involving medications and the self-removal of therapeutic devices. The contributing factors were related to the tasks and technology, the professional work team, the patients, and the environment. The analysis confirmed that the cases presented with similar contributing factors, thereby indicating that the vulnerable aspects of the system are primarily responsible for the incidence occurrence. We conclude that root-cause analysis facilitates the identification of these vulnerable points. Proactive management in system-error prevention is made possible by recommendations.

Comfort of the patient's family in an Intensive Care Unit related to welcoming

This study aimed to identify the level of comfort of families of patients in a critical health condition related to the welcoming practices performed by the hospital staff. Interviews were conducted with 250 relatives in hospitals of the state Bahia, using a Likert scale. Data were analyzed as percentages and quartiles. For nine of the 12 statements of the scale, most relatives scored their comfort level between very and totally comfortable, median of 4,revealing kindness, tranquility and friendly communication with family members. More than half of the sample scored its level as not at all to more or less comfortable, median of 3, for statements about demonstration of interest towards the relative by the staff and flexible visiting of the patient. The necessity of greater interest of the team in the condition and needs of the family was observed. Promoting comfort from the dimension of welcoming demands interdisciplinary actions grounded in humanistic philosophy, in which the nurse has an important role to play.

Direct cost of connecting, maintaining and disconnecting patient-controlled analgesia pump

Quantitative research that aimed to identify the mean total cost (MTC) of connecting, maintaining and disconnecting patient-controlled analgesia pump (PCA) in the management of pain. The non-probabilistic sample corresponded to the observation of 81 procedures in 17 units of the Central Institute of the Clinics Hospital, Faculty of Medicine, University of Sao Paulo. We calculated the MTC multiplying by the time spent by nurses at a unit cost of direct labor, adding the cost of materials and medications/solutions. The MTC of connecting was R$ 107.91; maintenance R$ 110.55 and disconnecting R$ 4.94. The results found will subsidize discussions about the need to transfer money from the Unified Health System to hospitals units that perform this technique of analgesic therapy and it will contribute to the cost management aimed at making efficient and effective decision-making in the allocation of available resources.

Bacteremia caused by Comamonas kerstersii in a patient with diverticulosis.

We report for the first time a case of bacteremia caused by Comamonas kerstersii in a 65-year-old patient with sign of diverticulosis. In addition, we review the isolation of Comamonas sp. and related organisms in our hospital over 25 years.

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

Mutations in the fibroblast growth factor receptor 2 (FGFR2) cause a variety of craniosynostosis syndromes. The mutational spectrum tends to be narrow with the majority of mutations occurring in either exon IIIa or IIIc or in the intronic sequence preceding exon IIIc. Mutations outside of this hotspot are uncommon and the few identified mutations have demonstrated wide clinical variability, making it difficult to establish a clear-cut genotype-phenotype correlation. To better delineate the clinical picture associated with these unusual mutations, we describe a severely affected patient with Pfeiffer syndrome and a missense mutation in the tyrosine kinase (TK) domain of FGFR2.

Pediatric patient classification system: improvement of an instrument

Objective Improve the content validity of the instrument for classification of pediatric patients and evaluate its construct validity. Method A descriptive exploratory study in the measurement of the content validity index, and correlational design for construct validation through exploratory factor analysis. Results The content validity index for indicators was 0.99 and it was 0.97 for graded situations. Three domains were extracted in the construct validation, namely: patient, family and therapeutic procedures, with 74.97% of explained variance. The instrument showed evidences of content and construct validity. Conclusion The validation of the instrument occurred under the approach of family-centered care, and allowed incorporating some essential needs of childhood such as playing, interaction and affection in the content of the instrument.