A study of the influence of task familiarity on user behaviors and performance with a MeSH term suggestion interface for PubMed bibliographic search

PurposePrevious research has shown that information seekers in biomedical domain need more support in formulating their queries. A user study was conducted to evaluate the effectiveness of a metadata based query suggestion interface for PubMed bibliographic search. The study also investigated the impact of search task familiarity on search behaviors and the effectiveness of the interface.MethodsA real user, user search request and real system approach was used for the study. Unlike tradition IR evaluation, where assigned tasks were used, the participants were asked to search requests of their own. Forty-four researchers in Health Sciences participated in the evaluation – each conducted two research requests of their own, alternately with the proposed interface and the PubMed baseline. Several performance criteria were measured to assess the potential benefits of the experimental interface, including users’ assessment of their original and eventual queries, the perceived usefulness of the interfaces, satisfaction with the search results, and the average relevance score of the saved records.ResultsThe results show that, when searching for an unfamiliar topic, users were more likely to change their queries, indicating the effect of familiarity on search behaviors. The results also show that the interface scored higher on several of the performance criteria, such as the “goodness” of the queries, perceived usefulness, and user satisfaction. Furthermore, in line with our hypothesis, the proposed interface was relatively more effective when less familiar search requests were attempted.ConclusionsResults indicate that there is a selective compatibility between search familiarity and search interface. One implication of the research for system evaluation is the importance of taking into consideration task familiarity when assessing the effectiveness of interactive IR systems.     

Beyond effectiveness: the evaluation of information systems using A Comprehensive Health Technology Assessment Framework

A Comprehensive Health Technology Assessment Framework is presented as a conceptual tool for decision-making about health technologies, including information technologies. The aim of the model is to provide an empirical, evidence-based foundation for health technology decisions. The major framework dimensions are (1) population at risk, (2) population impact, (3) economic concerns, (4) social context (including ethical, legal, and political concerns), and (5) technology assessment information. This multi-disciplinary approach provides guidelines on use of appropriate information in aligning 'stakeholder wants' and 'population needs'.     

Usability evaluation of pharmacogenomics clinical decision support aids and clinical knowledge resources in a computerized provider order entry system: A mixed methods approach

BackgroundPharmacogenomics (PGx) is positioned to have a widespread impact on the practice of medicine, yet physician acceptance is low. The presentation of context-specific PGx information, in the form of clinical decision support (CDS) alerts embedded in a computerized provider order entry (CPOE) system, can aid uptake. Usability evaluations can inform optimal design, which, in turn, can spur adoption.ObjectivesThe study objectives were to: (1) evaluate an early prototype, commercial CPOE system with PGx-CDS alerts in a simulated environment, (2) identify potential improvements to the system user interface, and (3) understand the contexts under which PGx knowledge embedded in an electronic health record is useful to prescribers.MethodsUsing a mixed methods approach, we presented seven cardiologists and three oncologists with five hypothetical clinical case scenarios. Each scenario featured a drug for which a gene encoding drug metabolizing enzyme required consideration of dosage adjustment. We used Morae^® to capture comments and on-screen movements as participants prescribed each drug. In addition to PGx-CDS alerts, ‘Infobutton^®’ and ‘Evidence’ icons provided participants with clinical knowledge resources to aid decision-making.ResultsNine themes emerged. Five suggested minor improvements to the CPOE user interface; two suggested presenting PGx information through PGx-CDS alerts using an ‘Infobutton’ or ‘Evidence’ icon. The remaining themes were strong recommendations to provide succinct, relevant guidelines and dosing recommendations of phenotypic information from credible and trustworthy sources; any more information was overwhelming. Participants’ median rating of PGx-CDS system usability was 2 on a Likert scale ranging from 1 (strongly agree) to 7 (strongly disagree).ConclusionsUsability evaluation results suggest that participants considered PGx information important for improving prescribing decisions; and that they would incorporate PGx-CDS when information is presented in relevant and useful ways.     

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

Klippel-Feil syndrome (KFS) is an exceedingly rare constitutional disorder in which a paucity of knowledge exists about the disease and its associated morbidity and mortality. We present a 4-year-old male with KFS, who notably was also diagnosed with large-cell anaplastic medulloblastoma. We evaluated the genetic basis of co-occurring KFS and medulloblastoma and the role of MYO18B as related to medulloblastoma. Constitutional and somatic variant and copy number analyses were performed from DNA-based exome studies, along with RNA-sequencing of tumor tissue, to elucidate the genetic etiology of the co-existing disease states. We identified novel constitutional compound heterozygous frameshift variants (NM_032608.5: p.Leu2257SerfsTer16 and p.Arg2220SerfsTer74) each encoding a premature stop of translation in MYO18B, consistent with a diagnosis of KFS. We did not identify any somatic variants of known relevance or disease-relevant therapeutic targets in the tumor. The somatic copy number profile was suggestive of Group 3γ medulloblastoma. Relative to pediatric brain tumors, medulloblastoma, particularly, Group 3, had increased gene expression of MYO18B. In summary, coexisting constitutional and somatic diagnoses in this patient enabled the elucidation of the genetic etiology of KFS and provided support for the role of MYO18B in tumor suppression.     

Renal adenomatosis associated with carcinoma of the lower urinary tract: A case report with immunohistochemical study

A case of renal adenomatosis of the left kidney associated with a carcinoma of the ipsilateral ureter in a 49-year-old man is examined. One hundred and eight adenomas, which were smaller than 15 mm in diameter, and a single microcarcinoma, which measured 1 mm in diameter, were found in the kidney. Further, there were more than 800 hyperplastic lesions which could be classified into three groups: (i) 792 of distal origin; (ii) 24 of proximal origin; and 10 of collecting duct origin. The serial sections obtained from 19 paraffin blocks were stained using Leu M1 as the proximal marker and epithelial membrane antigen (EMA) as the distal/collecting marker to assist in determining the origins. Ten of the small adenomas (15 lesions), which did not exceed 3 mm in diameter, were predominantly positive for EMA and five were predominantly positive for Leu M1. Further, hyperplastic lesions of distal and collecting duct origins were diffusely positive for EMA and sporadically positive for Leu M1. The lesions of proximal origin were predominantly positive for Leu M1 and sporadically positive for EMA. These findings suggest that a progression from hyperplasia and a direct transition from a single tubule to adenoma occurred multifocally in different segments of the nephrons throughout the left kidney.     

Bilateral accessory renal arteries associated with some anomalies of the ovarian arteries: A case study

Accessory renal arteries are found frequently—more often on the left side and occurring in as high as 30–35% of cases in some series. These arteries usually enter the upper or lower poles of the kidney. The main clinical significance of such arteries entering the lower pole is that they may obstruct the ureter and lead to hydronephrosis. We report the presence of accessory renal arteries found during routine dissection in an elderly female cadaver. The uniqueness in the variations noted in our cadaver included (1) a dual relationship of the ureters to the accessory renal arteries and (2) both the right and left ovarian arteries originating from their respective accessory arteries. Anomalous renal vessels arise as a result of the complicated development of the kidneys. Similarly, the aberrant origins of both the ovarian arteries observed here could be explained on an embryological basis. Clin. Anat. 11:417–420, 1998. © 1998 Wiley-Liss, Inc.     

Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals

Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur–Chung neurodevelopmental syndrome. More recently, through trio‐based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients. Consistent with previously reported patients, patients in this series had apparent intellectual disability, swallowing difficulties, and hypotonia. While there are some shared facial characteristics, the gestalt is neither consistent nor readily recognized. Congenital heart abnormalities were identified in nearly 30% of the patients, representing a newly recognized CSNK2A1 clinical association. Based upon the clinical findings from this study and the previously reported patients, we suggest an initial approach to the management of patients with this recently described intellectual disability syndrome.

     

Ciliated carcinoma of the endometrium associated with mucinous and neuroendocrine differentiation: A case report with immunohistochemical and ultrastructural study

A case of endometrial ciliated carcinoma mixed with foci of mucinous adenocarcinoma and argyrophil cells is described. The patient suffered from diabetes mellitus, hypertension and obesity, but had no history of estrogen use. Although the tumor presented well differentiated histologic features, it showed complete diffuse, endophytic extension. Approximately half of the cilia had abnormal inner structures, with 8 + 2 microtubular pattern. Some ciliated cells contained intracytoplasmic mucin, while others contained neurosecretory granules. These findings suggest that malignant ciliated cells have the capacity of further transformation into mucinous or endocrine cells.     

The clinical significance of and the factors associated with macrolide resistance and poor macrolide response in pediatric Mycoplasma pneumoniae infection: A retrospective study

BackgroundMacrolide-resistant Mycoplasma pneumoniae (MRMP) infection is increasing worldwide. However, its clinical significance is still uncertain.MethodsThe data of the Laboratory Medicine Department of Chang Gung Memorial Hospital in northern Taiwan was searched for children with molecular confirmed macrolide-susceptible Mycoplasma pneumoniae (MSMP) and MRMP infections between January 2011 and December 2018. The clinical features, laboratory data, and chest image presentations were compared between patients with MRMP and MSMP infections and between patients with good and poor macrolide response, respectively.ResultsRecords from 158 patients were recovered. Of the enrolled patients 34 (22%) suffered MRMP infection, 27 (17%) had pleural effusions, and 47 (32%) had poor macrolide response. The macrolide resistance rate was 12% in 2011, 20% between 2015 and 2016, and 50% between 2017 and 2018, respectively. Other than a poor macrolide response, the MRMP and MSMP infections are clinically indistinguishable. The presence of pleural effusion and MRMP infections were found to be independently associated with a poor macrolide response, with odds ratios (95% confidence interval) of 14.3 (4.9–42.0) and 14.6 (5.4–40), respectively. The macrolide resistance rate of the patients with a poor macrolide response was 49% and 18% among all the patients enrolled and the patients with a pleural effusion, respectively.ConclusionThe macrolide resistance rate had possibly increased in recent years in Taiwan and should be continuously monitored. In addition, the macrolide response could be misleading in predicting a macrolide resistance especially for the patients with a pleural effusion.     

A retrospective nationwide case study on the use of a new antifungal agent: patients treated with caspofungin during 2001–2004 in Finland

The aim of this study was to evaluate the efficacy and safety of caspofungin in patients treated in Finland during the period 2001-2004. The medical records of 78 adult patients treated with caspofungin in five major hospitals were reviewed retrospectively. Fifty-nine (76%) patients had proven invasive fungal infection, of whom 22 (28%) had aspergillosis and 37 (47%) had candidiasis. Nineteen (24%) patients were treated empirically; only 13 (17%) patients received caspofungin as primary therapy. A favourable response was achieved in 52 (67%) patients. The response rate was 78% in patients with candidiasis, and 50% in patients with aspergillosis. At the end of the study period, 40 (51%) patients remained alive; of the 38 deaths, nine (24%) were caused by fungal infection. The response rates were lower, although not significantly, for patients with high (>20) vs. low (< or =20) Acute Physiology and Chronic Health Evaluation (APACHE II) scores (response rate 50% vs. 68%, p 0.48, respectively), and were also lower in patients with long-term (>20 days) vs. shorter duration (< or =20 days) neutropenia (55% vs. 73%, p 0.32, respectively), and in those with an underlying haematological malignancy vs. patients with other diseases (59% vs. 73%, p 0.2, respectively). In five (6%) patients, caspofungin therapy was discontinued prematurely because of adverse drug reactions (ADRs) (elevated liver enzyme values in three patients, neuropathic pain in one, and skin rash in one). Serious ADRs occurred in two (3%) patients (severe hepatic insufficiency with consequent death, and eosinophilia with elevated alkaline phosphatase levels), and laboratory abnormalities, mostly mild and reversible, in 24 (31%) patients. In this unselected patient population, caspofungin was safe, well-tolerated, and had an efficacy comparable to that in previous reports from prospective trials.     

A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders

KAT6B sequence variants have been identified in both patients with the Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS) and in the genitopatellar syndrome (GPS). In SBBYSS, they were reported to affect mostly exons 16–18 of KAT6B, and the predicted mechanism of pathogenesis was haploinsufficiency or a partial loss of protein function. Truncating variants in KAT6B leading to GPS appear to cluster within the proximal portion of exon 18, associated with a dominant‐negative effect of the mutated protein, most likely. Although SBBYSS and GPS have been initially considered allelic disorders with distinctive genetic and clinical features, there is evidence that they represent two ends of a spectrum of conditions referable as KAT6B‐related disorders. We detected a de novo truncating variant within exon 7 of KAT6B in a 8‐year‐old female who presented with mild intellectual disability, facial dysmorphisms highly consistent with SBBYSS, and skeletal anomalies including exostosis, that are usually considered component manifestations of GPS. Following the clinical diagnosis driven by the striking facial phenotype, we analyzed the KAT6B gene by NGS techniques. The present report highlights the pivotal role of clinical genetics in avoiding clear‐cut genotype‐phenotype categories in syndromic forms of intellectual disability. In addition, it further supports the evidence that a continuum exists within the clinical spectrum of KAT6B‐associated disorders.