Do physicians know when to refer patients for genetic testing?

Primary care physicians (PCPs) are commonly approached with concerns involving patient genetics. This is a challenge because most PCPs lack expertise in genetic testing compared to their genetic counselor counterparts. Currently, the recommended best practice is to refer patients for genetic testing based on cancer-related family history questionnaires with a genetic counseling referral to discuss their results and any implications. However, the extent to which PCPs are using these questionnaires for this purpose remains poorly understood. In this cross-sectional study, PCPs were presented with the American Cancer Society's seven recommended family history questions to determine the percentage who consider each to be an indicator for referral to a genetics specialist. Questionnaires were completed by 88 of 260 attending PCPs at a national primary care review conference. The main outcome was the percentage of PCPs who identified each question as a trigger for genetic testing. Secondary outcomes included correlations with years of practice, genetics training, and methods used to obtain patient family history. Only two of the seven questions were considered triggers by most PCPs (range, 76-83%). The remaining five had lower percentages (range, 22-55%). Years of practice did not influence the number of triggers identified (Spearman correlation coefficient test: r = 0.05, p = 0.68). Few PCPs (3.4%) felt they had good to excellent genetics training during residency. Only 44.3% had genetics specialists available for referral. Overall, low percentages of PCPs consider the American Cancer Society questions to be triggers for genetic testing referrals. Furthermore, many do not have a genetics specialist or counselor available for referral. Addressing these concerns may help PCPs understand the basics of genetic testing and use standardized questionnaires to make appropriate referrals to genetic specialists, thereby reducing inappropriate referrals and improving appointment access to this precious resource for those who truly need it.

SUCKING LICE (PHTHIRAPTERA: ANOPLURA) PARASITIZING MONGOLIAN RODENTS WITH THE DESCRIPTION OF A NEW SPECIES OF HOPLOPLEURA FROM MOUNTAIN VOLES (ALTICOLA SPP.).

The sucking louse fauna associated with Mongolian mammals is inadequately known. We provide a list of 25 species of sucking lice recorded from Mongolian rodents including previously published records, and new records of specimens collected during an expedition to northwestern Mongolia in 2015. Hoplopleura inagakii Ono and Hasegawa and Polyplax cricetulis Chin are newly recorded from Mongolia and 2 new host associations in Mongolia are recorded for Hoplopleura acanthopus (Burmeister). We describe Hoplopleura altaiensis n. sp., from the Gobi Altai mountain vole, Alticola barakshin Bannikov (type host) with an additional specimen from Alticola strelzowi (Kastchenko) (Strelzow's mountain vole). Both sexes of the new species are illustrated with scanning electron micrographs and line drawings. We note small morphological differences in the shape of the female subgenital plate between specimens prepared for scanning electron microscopy versus those prepared for light microscopy following DNA extraction.

Allograft cardiectomy and biventricular assist device placement as a salvage maneuver in a heart transplant recipient.

End-stage allograft failure following cardiac transplantation is a devastating problem, and retransplantation offers the only chance for survival. We present the case of a young man with a failing cardiac allograft who underwent allograft cardiectomy, atrial pouch formation, and biventricular assist device (BiVAD) placement as a salvage maneuver.

A New Species of Sucking Louse from the Long-tailed Ground Squirrel, Urocitellus undulatus, from Mongolia, with a Key to Species, and a Review of Host Associations and Geographical Distributions of Members of the Genus Linognathoides (Psocodea: Anoplura: Polyplacidae).

Members of the genus Linognathoides are ectoparasites of ground squirrels and marmots (Rodentia: Sciuridae) in the Nearctic, Palearctic, and Afrotropical regions. Linognathoides urocitelli n. sp. is described based on adult male and female and third-instar nymphal specimens collected from the long-tailed ground squirrel (Urocitellus undulatus) in Mongolia. The new species is compared morphologically to other members of the genus Linognathoides. Additionally, DNA sequences of a 610-base pair (bp) fragment of the nuclear 18S rDNA gene, a 452-bp fragment of the mitochondrial 12S rrnS gene, and a 363-bp fragment of the mitochondrial 16S rrnL gene are provided. Host associations and geographical distributions of the 11 previously recognized species of the genus, and of Linognathoides urocitelli n. sp., are reviewed. A dichotomous identification key to adults of all known species in the genus Linognathoides is provided.

IDH1-Mutation in Diffuse Gliomas in Persons Age 55 Years and Over.

Diffuse astrocytoma (DA), anaplastic astrocytoma (AA), and glioblastoma (GBM) are defined by the World Health Organization (WHO) based on IDH-mutational status. The vast majority of IDH-mutated gliomas (90% of which involve a mutation in IDH1 R132H, which can be assessed by IDH1 immunohistochemistry [IHC]) occur in persons younger than 55 years of age. This raises the question as to the prevalence of IDH-mutant tumors in older persons and whether the gliomas in older patients should be routinely tested. Since January 1, 2014, we have employed a standard screening panel for all gliomas regardless of patient age. From 578 total gliomas tested, 88 were IDH-mutant DA/AA/GBMs and 11 IDH-mutant tumors were in persons age 55 and older. Of the 11 IDH-mutant examples in the older group, 9 were first clinical presentations of the tumor, 4 of which were in persons age 70 or older (oldest, 76 years). We assessed whether the typical profile of nuclear ATRX loss with or without strong nuclear p53 IHC occurred in these and younger patients and found that ATRX/p53 IHC patterns paralleled those in younger patients. We conclude that, although infrequent, IDH IHC is strongly recommended for all ages of adult patients with diffuse gliomas.

Disclosure of physician-specific behavior improves blood utilization protocol adherence in cardiac surgery.

BACKGROUND: Evidence indicates that a transfusion (Tx) trigger hemoglobin (Hgb) value of 8 gm/dL may be safer than a more liberal Tx trigger in cardiac surgery (CS) patients. We hypothesized that weekly physician feedback would improve adherence to such a protocol, but that the public identification of individual physician behavior would have an additive effect. METHODS: We concurrently reviewed all adult CS patients at our institution from December 1, 2010 to May 27, 2011. We matched any cardiac surgery intensive care unit Tx event (red blood cells) with the Hgb value immediately before Tx. Patients requiring massive transfusions (>10 units/24 hours) were excluded. After all providers agreed upon a Hgb of 8 as the Tx trigger, we studied 3 consecutive time periods: no feedback, weekly feedback of group Tx behavior, and weekly feedback with identification of individual surgeon Tx behavior. RESULTS: Of the 512 patients who underwent cardiac operations, 144 patients underwent 510 Tx events. Compared with period 1, the unadjusted odds of receiving a Tx above 8 gm/dL decreased by 48% in study period 2(odds ratio: 0.52, p < 0.01), and 63% in study period 3(odds ratio: 0.37, p <0.001). Single unit transfusion rates increased from 77% to greater than 90% (p < 0.001). In-hospital mortality also fell from period 1 to period 3 (7.0% to 1.5%, p = 0.02) with the observed to expected mortality ratio decreasing from 2.19 to 0.51. CONCLUSIONS: Blood transfusion protocol adherence improves when weekly feedback is provided. Identifying individual surgeon behavior improves adherence to a greater degree. Routine presentation of quality metrics with identification of individual physician-specific behavior may be the most effective way to accomplish performance improvement.

The role of head computed tomography imaging in the evaluation of postoperative neurologic deficits in cardiac surgery patients.

BACKGROUND: Computed tomography (CT) scans of the head without contrast are routinely obtained to evaluate neurologic deficits after cardiac surgery, but their utility is unknown. We evaluated our experience with this imaging modality to determine its value. METHODS: We retrospectively identified cardiac surgery patients with postoperative neurologic deficits occurring during the first week after surgery between January 2000 and December 2012. Stroke was defined by neurologist's determination, whereas a nonfocal deficit (NFD) was defined by the presence of seizure, delirium, or cognitive impairment. We defined early noncontrast head CT as occurring within 7 days of surgery. Outcomes included positive findings on CT, in-hospital mortality, and length of stay. Multivariate logistic regression identified predictors of positive findings on head CT. RESULTS: Within the population of 11,070 postoperative patients, 451 had early noncontrast head CT scans (4%). Two hundred two (44.7%) were associated with stroke, and 249 (55.2%) were associated with NFD. Among stroke patients, 40 of 202 (20%) showed acute infarction, 17 of 202 (8%) showed subacute infarction, and 5 of 202 (2%) showed hemorrhage. Among NFD patients, 1 of 248 (0.4%) showed acute infarction, 4 of 248 (1.6%) showed subacute infarction, and 1 of 248 (0.4%) showed hemorrhage. There was no difference in in-hospital mortality (stroke, 42 of 201 [21%] versus NFD, 41 of 248 [16%]; p = 0.2) or length of stay (stroke, 24 d versus NFD, 22 d; p = 0.5). On multivariable logistic regression, only focal deficits and aortic procedures predicted a positive finding on CT scan. CONCLUSIONS: This study reviewed the utility of early postoperative noncontrast head CT in cardiac surgery patients. With focal neurologic deficits, this imaging modality was positive for approximately one third of patients, but rarely positive for NFD. Its use in this setting has limited utility.

Severe acute kidney injury according to the RIFLE (risk, injury, failure, loss, end stage) criteria affects mortality in lung transplantation.

BACKGROUND: The RIFLE criteria (risk, injury, failure, loss, end stage) are new consensus definitions for acute kidney injury (AKI) associated with increased mortality; however, they have not been applied in lung transplantation (LTx). Using the RIFLE criteria, we examined the effect of AKI on outcomes and cost in LTx. METHODS: We retrospectively reviewed all LTx patients at our institution since the lung allocation score (LAS) system was initiated (May 2005-August 2010). Using the Modification of Diet in Renal Disease formula, we assigned appropriate RIFLE class (R, I, F) comparing baseline creatinine to peak levels in the first 7 days after LTx. Generalized linear models assessed the effect of AKI on in-hospital and 1-year mortality. Hospital charges were used to examine the financial effect of AKI. RESULTS: During the study, 106 LTx were performed. Excluding patients bridged to LTx with extracorporeal membrane oxygenation, 84 (86%) lived 1 year. Median LAS was 37.1 (interquartile range, 34.1-45.2). RIFLE status was I or F in 39 (36.7%), and 14 (13.2%) required renal replacement therapy (RRT). After adjusting for LAS, RIFLE-F had an increased relative rate (RR) of in-hospital mortality (RR, 4.76, 95% confidence interval [CI], 1.65-13.7, p = 0.004) and 1-year mortality (RR, 3.17, 95% CI 1.55-6.49, p = 0.002). RIFLE-R and I were not associated with higher in-hospital or 1-year mortality. Post-operative RRT was associated with increased in-hospital (RR, 28.2; 95% CI, 6.18-128.1; p < 0.001) and 1-year mortality (RR, 4.97; 95% CI, 1.54-16.0; p < 0.001). AKI patients had higher median hospital charges of $168,146 vs $143,551 for no AKI (p = 0.02). CONCLUSIONS: This study shows high rates of AKI using the new RIFLE criteria in LTx. RIFLE-F is associated with higher in-hospital and 1-year mortality. Less severe degrees of AKI are not associated with increased mortality. The financial burden associated with AKI is significant.

Serum levels of neuron-specific ubiquitin carboxyl-terminal esterase-L1 predict brain injury in a canine model of hypothermic circulatory arrest.

OBJECTIVES: Ubiquitin carboxyl-terminal esterase-L1 (UCHL1) is a protein highly selectively expressed in neurons and has been linked to neurodegenerative disease in humans. We hypothesize that UCHL1 would be an effective serum biomarker for brain injury as tested in canine models of hypothermic circulatory arrest (HCA) and cardiopulmonary bypass (CPB). METHODS: Dogs were exposed to CPB (n = 14), 1 hour of HCA (1h-HCA; n = 11), or 2 hours of HCA (2h-HCA; n = 20). Cerebrospinal fluid and serum were collected at baseline, 8 hours, and 24 hours after treatment. UCHL1 levels were measured using a sandwich enzyme-linked immunosorbent assay. Neurologic function and histopathology were scored at 24 hours, and UCHL1 immunoreactivity was examined at 8 hours. RESULTS: Baseline UCHL1 protein levels in cerebrospinal fluid and serum were similar for all groups. In serum, UCHL1 levels were elevated at 8 hours after treatment for 2h-HCA subjects compared with baseline values (P < .01) and also compared with CPB dogs at 8 hours (P < .01). A serum UCHL1 level above 3.9 ng/(mg total protein) at 8 hours had the best discriminatory power for predicting functional disability. In cerebrospinal fluid, UCHL1 was elevated in all groups at 8 hours after treatment compared with baseline (P < .01). However, UCHL1 levels in cerebrospinal fluid remained elevated at 24 hours only in 2h-HCA subjects (P < .01). Functional and histopathologic scores were closely correlated (Pearson coefficient, 0.66; P < .01) and were significantly worse in 2h-HCA animals. CONCLUSIONS: This is the first report associating elevated serum UCHL1 with brain injury. The novel neuronal biomarker UCHL1 is increased in serum 8 hours after severe neurologic insult in 2h-HCA animals compared with CPB animals. These results support the potential for use in cardiac surgery patients and form the basis for clinical correlation in humans.