UW Neurological Surgery Recent PubMed Publications

Suboptimal lipid management before and after ischaemic stroke and TIA-the North Dublin Population Stroke Study.

Ir J Med Sci. 2018 Aug;187(3):739-746

Authors: Ní Chróinín D, Ní Chróinín C, Akijian L, Callaly EL, Hannon N, Kelly L, Marnane M, Merwick Á, Sheehan Ó, Horgan G, Duggan J, Kyne L, Dolan E, Murphy S, Williams D, Kelly PJ

Abstract
BACKGROUND: Few population-based studies have assessed lipid adherence to international guidelines for primary and secondary prevention in stroke/transient ischaemic attack (TIA) patients.
AIMS: This study aims to evaluate adherence to lipid-lowering therapy (LLT) guidelines amongst patients with ischaemic stroke/TIA.
METHODS: Using hot and cold pursuit methods from multiple hospital/community sources, all stroke and TIA cases in North Dublin City were prospectively ascertained over a 1-year period. Adherence to National Cholesterol Education Programme (NCEP) III guidelines, before and after index ischaemic stroke/TIA, was assessed.
RESULTS: Amongst 616 patients (428 ischaemic stroke, 188 TIA), total cholesterol was measured following the qualifying event in 76.5% (471/616) and low-density lipoprotein (LDL) in 60.1% (370/616). At initial stroke/TIA presentation, 54.1% (200/370) met NCEP III LDL goals. Compliance was associated with prior stroke (odds ratio [OR] 2.19, p = 0.02), diabetes (OR 1.91, p = 0.04), hypertension (OR 1.57, p = 0.03), atrial fibrillation (OR 1.78, p = 0.01), pre-event LLT (OR 2.85, p < 0.001) and higher individual LDL goal (p = 0.001). At stroke/TIA onset, 32.7% (195/596) was on LLT. Nonetheless, LDL exceeded individual NCEP goal in 29.2% (56/192); 21.6% (53/245) warranting LLT was not on treatment prior to stroke/TIA onset. After index stroke/TIA, 75.9% (422/556) was on LLT; 15.3% (30/196) meeting NCEP III criteria was not prescribed a statin as recommended. By 2 years, actuarial survival was 72.8% and 11.9% (59/497) experienced stroke recurrence. No association was observed between initial post-event target adherence and 2-year outcomes.
CONCLUSIONS: In this population-based study, LLT recommended by international guidelines was under-used, before and after index stroke/TIA. Strategies to improve adherence are needed.

PMID: 29368282 [PubMed - indexed for MEDLINE]

Centers for Disease Control and Prevention Guideline on the Diagnosis and Management of Mild Traumatic Brain Injury Among Children.

JAMA Pediatr. 2018 11 01;172(11):e182853

Authors: Lumba-Brown A, Yeates KO, Sarmiento K, Breiding MJ, Haegerich TM, Gioia GA, Turner M, Benzel EC, Suskauer SJ, Giza CC, Joseph M, Broomand C, Weissman B, Gordon W, Wright DW, Moser RS, McAvoy K, Ewing-Cobbs L, Duhaime AC, Putukian M, Holshouser B, Paulk D, Wade SL, Herring SA, Halstead M, Keenan HT, Choe M, Christian CW, Guskiewicz K, Raksin PB, Gregory A, Mucha A, Taylor HG, Callahan JM, DeWitt J, Collins MW, Kirkwood MW, Ragheb J, Ellenbogen RG, Spinks TJ, Ganiats TG, Sabelhaus LJ, Altenhofen K, Hoffman R, Getchius T, Gronseth G, Donnell Z, O'Connor RE, Timmons SD

Abstract
Importance: Mild traumatic brain injury (mTBI), or concussion, in children is a rapidly growing public health concern because epidemiologic data indicate a marked increase in the number of emergency department visits for mTBI over the past decade. However, no evidence-based clinical guidelines have been developed to date for diagnosing and managing pediatric mTBI in the United States.
Objective: To provide a guideline based on a previous systematic review of the literature to obtain and assess evidence toward developing clinical recommendations for health care professionals related to the diagnosis, prognosis, and management/treatment of pediatric mTBI.
Evidence Review: The Centers for Disease Control and Prevention (CDC) National Center for Injury Prevention and Control Board of Scientific Counselors, a federal advisory committee, established the Pediatric Mild Traumatic Brain Injury Guideline Workgroup. The workgroup drafted recommendations based on the evidence that was obtained and assessed within the systematic review, as well as related evidence, scientific principles, and expert inference. This information includes selected studies published since the evidence review was conducted that were deemed by the workgroup to be relevant to the recommendations. The dates of the initial literature search were January 1, 1990, to November 30, 2012, and the dates of the updated literature search were December 1, 2012, to July 31, 2015.
Findings: The CDC guideline includes 19 sets of recommendations on the diagnosis, prognosis, and management/treatment of pediatric mTBI that were assigned a level of obligation (ie, must, should, or may) based on confidence in the evidence. Recommendations address imaging, symptom scales, cognitive testing, and standardized assessment for diagnosis; history and risk factor assessment, monitoring, and counseling for prognosis; and patient/family education, rest, support, return to school, and symptom management for treatment.
Conclusions and Relevance: This guideline identifies the best practices for mTBI based on the current evidence; updates should be made as the body of evidence grows. In addition to the development of the guideline, CDC has created user-friendly guideline implementation materials that are concise and actionable. Evaluation of the guideline and implementation materials is crucial in understanding the influence of the recommendations.

PMID: 30193284 [PubMed - indexed for MEDLINE]

Diagnosis and Management of Mild Traumatic Brain Injury in Children: A Systematic Review.

JAMA Pediatr. 2018 11 01;172(11):e182847

Authors: Lumba-Brown A, Yeates KO, Sarmiento K, Breiding MJ, Haegerich TM, Gioia GA, Turner M, Benzel EC, Suskauer SJ, Giza CC, Joseph M, Broomand C, Weissman B, Gordon W, Wright DW, Moser RS, McAvoy K, Ewing-Cobbs L, Duhaime AC, Putukian M, Holshouser B, Paulk D, Wade SL, Herring SA, Halstead M, Keenan HT, Choe M, Christian CW, Guskiewicz K, Raksin PB, Gregory A, Mucha A, Taylor HG, Callahan JM, DeWitt J, Collins MW, Kirkwood MW, Ragheb J, Ellenbogen RG, Spinks TJ, Ganiats TG, Sabelhaus LJ, Altenhofen K, Hoffman R, Getchius T, Gronseth G, Donnell Z, O'Connor RE, Timmons SD

Abstract
Importance: In recent years, there has been an exponential increase in the research guiding pediatric mild traumatic brain injury (mTBI) clinical management, in large part because of heightened concerns about the consequences of mTBI, also known as concussion, in children. The CDC National Center for Injury Prevention and Control's (NCIPC) Board of Scientific Counselors (BSC), a federal advisory committee, established the Pediatric Mild TBI Guideline workgroup to complete this systematic review summarizing the first 25 years of literature in this field of study.
Objective: To conduct a systematic review of the pediatric mTBI literature to serve as the foundation for an evidence-based guideline with clinical recommendations associated with the diagnosis and management of pediatric mTBI.
Evidence Review: Using a modified Delphi process, the authors selected 6 clinical questions on diagnosis, prognosis, and management or treatment of pediatric mTBI. Two consecutive searches were conducted on PubMed, Embase, ERIC, CINAHL, and SportDiscus. The first included the dates January 1, 1990, to November 30, 2012, and an updated search included December 1, 2012, to July 31, 2015. The initial search was completed from December 2012 to January 2013; the updated search, from July 2015 to August 2015. Two authors worked in pairs to abstract study characteristics independently for each article selected for inclusion. A third author adjudicated disagreements. The risk of bias in each study was determined using the American Academy of Neurology Classification of Evidence Scheme. Conclusion statements were developed regarding the evidence within each clinical question, and a level of confidence in the evidence was assigned to each conclusion using a modified GRADE methodology. Data analysis was completed from October 2014 to May 2015 for the initial search and from November 2015 to April 2016 for the updated search.
Findings: Validated tools are available to assist clinicians in the diagnosis and management of pediatric mTBI. A significant body of research exists to identify features that are associated with more serious TBI-associated intracranial injury, delayed recovery from mTBI, and long-term sequelae. However, high-quality studies of treatments meant to improve mTBI outcomes are currently lacking.
Conclusions and Relevance: This systematic review was used to develop an evidence-based clinical guideline for the diagnosis and management of pediatric mTBI. While an increasing amount of research provides clinically useful information, this systematic review identified key gaps in diagnosis, prognosis, and management.

PMID: 30193325 [PubMed - indexed for MEDLINE]

Risk factors, clinical findings, and outcomes in pregnancies with coronary artery dissection: A case series.

Eur J Prev Cardiol. 2019 03;26(5):544-548

Authors: Lee AC, Haddad A, Fries MH, Al-Kouatly HB

PMID: 30180768 [PubMed - indexed for MEDLINE]

Unravelling subclonal heterogeneity and aggressive disease states in TNBC through single-cell RNA-seq.

Nat Commun. 2018 Sep 04;9(1):3588

Authors: Karaayvaz M, Cristea S, Gillespie SM, Patel AP, Mylvaganam R, Luo CC, Specht MC, Bernstein BE, Michor F, Ellisen LW

Abstract
Triple-negative breast cancer (TNBC) is an aggressive subtype characterized by extensive intratumoral heterogeneity. To investigate the underlying biology, we conducted single-cell RNA-sequencing (scRNA-seq) of >1500 cells from six primary TNBC. Here, we show that intercellular heterogeneity of gene expression programs within each tumor is variable and largely correlates with clonality of inferred genomic copy number changes, suggesting that genotype drives the gene expression phenotype of individual subpopulations. Clustering of gene expression profiles identified distinct subgroups of malignant cells shared by multiple tumors, including a single subpopulation associated with multiple signatures of treatment resistance and metastasis, and characterized functionally by activation of glycosphingolipid metabolism and associated innate immunity pathways. A novel signature defining this subpopulation predicts long-term outcomes for TNBC patients in a large cohort. Collectively, this analysis reveals the functional heterogeneity and its association with genomic evolution in TNBC, and uncovers unanticipated biological principles dictating poor outcomes in this disease.

PMID: 30181541 [PubMed - in process]

The relationship between defense mechanisms and religious coping using a new two-factor solution for the Defense Style Questionnaire-40.

Bull Menninger Clin. 2018;82(3):224-252

Authors: Prout TA, Gottdiener WH, Camargo A, Murphy S

Abstract
This study examined the factor structure of the Defense Style Questionnaire (DSQ-40) and explored the relationships between defense mechanisms and religious coping in a diverse sample of 380 college students. In contrast with the three-factor model of defenses proposed by the developers of the DSQ-40, principal axis factoring yielded two internally consistent components: adaptive and maladaptive defense styles. Endorsement of adaptive defenses was positively correlated with the use of positive religious coping strategies and negatively correlated with negative religious coping. Maladaptive defenses were associated with the endorsement of negative religious coping strategies. Clinical implications of these findings are discussed and recommendations are made for future use of the DSQ-40.

PMID: 30179043 [PubMed - indexed for MEDLINE]

Does the future of laparoscopic sleeve gastrectomy lie in the outpatient surgery center? A retrospective study of the safety of 3162 outpatient sleeve gastrectomies.

Surg Obes Relat Dis. 2018 Oct;14(10):1442-1447

Authors: Surve A, Cottam D, Zaveri H, Cottam A, Belnap L, Richards C, Medlin W, Duncan T, Tuggle K, Zorak A, Umbach T, Apel M, Billing P, Billing J, Landerholm R, Stewart K, Kaufman J, Harris E, Williams M, Hart C, Johnson W, Lee C, Lee C, DeBarros J, Orris M, Schniederjan B, Neichoy B, Dhorepatil A, Cottam S, Horsley B

Abstract
BACKGROUND: Laparoscopic sleeve gastrectomy (LSG) is a safe and effective procedure that can be performed as an outpatient procedure.
OBJECTIVES: The aim of the study was to determine whether same-day discharge LSG is safe when performed in an outpatient surgery center.
SETTING: Outpatient surgery centers.
METHODS: The medical records of 3162 patients who underwent primary LSG procedure by 21 surgeons at 9 outpatient surgery centers from January 2010 through February 2018 were retrospectively reviewed.
RESULTS: Three thousand one hundred sixty-two patients were managed with enhanced recovery after surgery protocol and were included in this analysis. The mean age and preoperative body mass index were 43.1 ± 10.8 years and 42.1 ± 7.1 kg/m2, respectively. Sleep apnea, type 2 diabetes, gastroesophageal reflux disease, hypertension, and hyperlipidemia were seen in 14.4%, 13.5%, 24.7%, 30.4%, and 17.6% patients, respectively. The mean total operative time was 56.4 ± 16.9 minutes (skin to skin). One intraoperative complication (.03%) occurred. The hospital transfer rate was .2%. The 30-day follow-up rate was 85%. The postoperative outcomes were analyzed based on the available data. The 30-day readmission, reoperation, reintervention, and emergency room visit rates were .6%, .6%, .2%, and .1%, respectively. The 30-day mortality rate was 0%. The total short-term complication rate was 2.5%.
CONCLUSIONS: Same-day discharge seems to be safe when performed in an outpatient surgery center in selected patients. It would appear that outpatient surgery centers are a viable option for patients with minimal surgical risks.

PMID: 30170954 [PubMed - indexed for MEDLINE]

Method and Apparatus for the Automated Delivery of Continuous Neural Stem Cell Trails Into the Spinal Cord of Small and Large Animals.

Neurosurgery. 2019 10 01;85(4):560-573

Authors: Kutikov AB, Moore SW, Layer RT, Podell PE, Sridhar N, Santamaria AJ, Aimetti AA, Hofstetter CP, Ulich TR, Guest JD

Abstract
BACKGROUND: Immature neurons can extend processes after transplantation in adult animals. Neuronal relays can form between injected neural stem cells (NSCs) and surviving neurons, possibly improving recovery after spinal cord injury (SCI). Cell delivery methods of single or multiple bolus injections of concentrated cell suspensions thus far tested in preclinical and clinical experiments are suboptimal for new tract formation. Nonuniform injectate dispersal is often seen due to gravitational cell settling and clumping. Multiple injections have additive risks of hemorrhage, parenchymal damage, and cellular reflux and require additional surgical exposure. The deposition of multiply delivered cells boluses may be uneven and discontinuous.
OBJECTIVE: To develop an injection apparatus and methodology to deliver continuous cellular trails bridging spinal cord lesions.
METHODS: We improved the uniformity of cellular trails by formulating NSCs in hyaluronic acid. The TrailmakerTM stereotaxic injection device was automatized to extend a shape memory needle from a single-entry point in the spinal cord longitudinal axis to "pioneer" a new trail space and then retract while depositing an hyaluronic acid-NSC suspension. We conducted testing in a collagen spinal models, and animal testing using human NSCs (hNSCs) in rats and minipigs.
RESULTS: Continuous surviving trails of hNSCs within rat and minipig naive spinal cords were 12 and 40 mm in length. hNSC trails were delivered across semi-acute contusion injuries in rats. Transplanted hNSCs survived and were able to differentiate into neural lineage cells and astrocytes.
CONCLUSION: The TrailmakerTM creates longitudinal cellular trails spanning multiple levels from a single-entry point. This may enhance the ability of therapeutics to promote functional relays after SCI.

PMID: 30169668 [PubMed - indexed for MEDLINE]

Microsurgical Excision of T12-L1 Pial Arteriovenous Malformation: 3-Dimensional Operative Video.

Oper Neurosurg (Hagerstown). 2018 Aug 30;:

Authors: Zeeshan Q, Cheng CY, Ghodke BV, Sekhar LN

Abstract
This 29-yr-old man presented with progressive paraparesis, sensory loss, allodynia, bowel, and bladder dysfunction for 9 mo, acutely exacerbated in the preceding 24 h. Magnetic resonance imaging scan showed multiple dilated vessels involving the thoracic cord. Spinal angiogram revealed a T12-L1 pial arteriovenous malformation (AVM)/arteriovenous fistula on the left side. It was fed by an L1 radicular artery that filled the anterior spinal artery, which in turn had multiple feeders to a pial AVM. Because of the supply from the anterior spinal artery with multiple feeders to the AVM, and the danger of infarction of the conus, embolization was not performed.He underwent T11-L1 laminectomy laterally to the pedicles and excision of AVM. There was one large arterialized vein in the midline that had a fistulous connection with an artery coursing up from inferiorly. Despite occlusion of this fistula, the vein was still arterialized. On further exploration, there was a large artery coming in to the subarachnoid space at the T11 level and coursing inferiorly, and entering the intradural pial AVM with a glomus of vessels located at the T12 level in the left anterolateral subpial aspect of the cord. This major artery as well as multiple smaller vessels going into it were cauterized and divided, and the AVM was totally excised.Postoperative angiogram showed complete excision of the nidus. At 1 mo follow-up, he had complete recovery of motor and bladder functions but bowel dysfunction persisted. He was independent for his daily activities.Informed consent was obtained from the patient prior to the surgery that included videotaping of the procedure and its distribution for educational purposes. All relevant patient identifiers have also been removed from the video and accompanying radiology slides.

PMID: 30169720 [PubMed - as supplied by publisher]

Sternocleidomastoid Encephalomyosynangiosis for Treatment-Resistant Moyamoya Disease.

Oper Neurosurg (Hagerstown). 2019 07 01;17(1):E23-E28

Authors: Chiarelli PA, Patel AP, Lee A, Chandra SR, Sekhar LN

Abstract
BACKGROUND AND IMPORTANCE: Refractory ischemic symptoms in moyamoya disease are a challenging problem, particularly in situations in which multiple direct and indirect revascularization techniques have already been employed. In addition, revascularization of the parietal lobes is difficult, as this area is a watershed between the middle cerebral artery and posterior cerebral artery distributions.
CLINICAL PRESENTATION: This is the case of a 50-yr-old woman with hemibody sensorimotor deficits, who had previously undergone bilateral arterial bypass and temporalis myosynangiosis. A method for indirect surgical cerebral revascularization is described, utilizing a rotated and tunneled sternocleidomastoid flap. The perfused muscle is approximated to the cortical surface, with adjacent sulci dissected to expose the underlying vasculature. After sternocleidomastoid encephalomyosynangiosis, the patient experienced symptomatic improvement, along with the appearance of new pial collateral vasculature on diagnostic cerebral angiography. Pre- and postoperative dynamic perfusion computed tomography with acetazolamide challenge demonstrate an increase in cerebral blood flow and decrease in mean transit time, as well as improved cerebrovascular reserve.
CONCLUSION: Sternocleidomastoid encephalomyosynangiosis using a tunneled muscle flap is a useful method for revascularization of the parietal and occipital lobes, particularly for refractory moyamoya in cases where a variety of other options have been exhausted.

PMID: 30169838 [PubMed - indexed for MEDLINE]

Characterization of the immune microenvironment of diffuse intrinsic pontine glioma: implications for development of immunotherapy.

Neuro Oncol. 2019 01 01;21(1):83-94

Authors: Lieberman NAP, DeGolier K, Kovar HM, Davis A, Hoglund V, Stevens J, Winter C, Deutsch G, Furlan SN, Vitanza NA, Leary SES, Crane CA

Abstract
Background: Diffuse intrinsic pontine glioma (DIPG) is a uniformly fatal CNS tumor diagnosed in 300 American children per year. Radiation is the only effective treatment and extends overall survival to a median of 11 months. Due to its location in the brainstem, DIPG cannot be surgically resected. Immunotherapy has the ability to target tumor cells specifically; however, little is known about the tumor microenvironment in DIPGs. We sought to characterize infiltrating immune cells and immunosuppressive factor expression in pediatric low- and high-grade gliomas and DIPG.
Methods: Tumor microarrays were stained for infiltrating immune cells. RNA was isolated from snap-frozen tumor tissue and Nanostring analysis performed. DIPG and glioblastoma cells were co-cultured with healthy donor macrophages, T cells, or natural killer (NK) cells, and flow cytometry and cytotoxicity assays performed to characterize the phenotype and function, respectively, of the immune cells.
Results: DIPG tumors do not have increased macrophage or T-cell infiltration relative to nontumor control, nor do they overexpress immunosuppressive factors such as programmed death ligand 1 and/or transforming growth factor β1. H3.3-K27M DIPG cells do not repolarize macrophages, but are not effectively targeted by activated allogeneic T cells. NK cells lysed all DIPG cultures.
Conclusions: DIPG tumors have neither a highly immunosuppressive nor inflammatory microenvironment. Therefore, major considerations for the development of immunotherapy will be the recruitment, activation, and retention of tumor-specific effector immune cells.

PMID: 30169876 [PubMed - indexed for MEDLINE]

Analysis and visualization of linked molecular and clinical cancer data by using Oncoscape.

Nat Genet. 2018 09;50(9):1203-1204

Authors: McFerrin LG, Zager M, Zhang J, Krenn G, McDermott R, Horse-Grant D, Silgard E, Colevas K, Shannon P, Bolouri H, Holland EC

PMID: 30158685 [PubMed - indexed for MEDLINE]

Anal squamous cell carcinoma: are we improving outcomes?

ANZ J Surg. 2018 10;88(10):1013-1016

Authors: Mackowski A, Levitt M, Makin G, Salama P, Tan P, Penter C, Platell C

Abstract
BACKGROUND: Anal squamous cell carcinoma (SCC) is a rare malignancy. The purpose of this study was to review a single institution's experience.
METHODS: All patients with anal SCC from St John of God Subiaco Hospital database were identified over a 10-year period (2006-2016). Patients with stage 1 anal verge tumours underwent wide local excision, all remaining patients were offered chemoradiation (CRT) as an initial treatment modality (a fluorouracil-based regimen in conjunction with mitomycin). Outcomes included recurrence, overall survival and survival following salvage surgery.
RESULTS: Forty-seven patients were identified. Median age was 60 years and median follow-up was 2.73 years. Five-year rates of recurrence and overall survival were 35.8% (95% confidence interval (CI) 23.2-52.4%) and 65.4% (95% CI 47.0-78.7%), respectively. Locoregional failure occurred most commonly at the primary site. Eight patients underwent salvage abdominoperineal resection for persistent or recurrent disease, and four of these patients died within 5 years.
CONCLUSION: CRT is a proven and reasonable effective approach in managing anal cancer. Observed recurrence and overall survival rates in this study resemble the published data. Despite newer methods of treatment being investigated, the treatment for anal SCC has not significantly changed in the past four decades and novel approaches are needed to further improve outcomes.

PMID: 30159994 [PubMed - indexed for MEDLINE]

Periodontitis and multiple markers of cardiometabolic risk in the fourth decade: A cohort study.

Community Dent Oral Epidemiol. 2018 12;46(6):615-623

Authors: Shearer DM, Thomson WM, Cameron CM, Ramrakha S, Wilson G, Wong TY, Williams MJA, McLean R, Theodore R, Poulton R

Abstract
OBJECTIVES: To examine associations between periodontitis at ages 32 and 38 and a range of early cardiometabolic risk biomarkers at age 38.
METHODS: Periodontal probing depth and bleeding on probing data collected during the age-32 and age-38 assessments in the Dunedin Multidisciplinary Health and Development Study were used to quantify periodontal inflammatory load. Retinal microvascular abnormalities, endothelial dysfunction, and metabolic syndrome data were collected during the age-38 assessment. Regression models were used to examine associations between these cardiometabolic risk markers and (1) the inflammatory load at age 38 and (2) the change in inflammatory load between ages 32 and 38.
RESULTS: Periodontal inflammatory load was recorded for 890 Study members at age 32, 891 at age 38, and 856 at both ages. Retinal vessel data were available for 922, endothelial dysfunction data for 909 and metabolic syndrome data for 905 at age 38. Neither the inflammatory load of periodontitis at 38 nor the changes in inflammatory load 32-38 were found to be associated with any of the three cardiometabolic risk markers.
CONCLUSIONS: Periodontitis was not associated with markers of cardiometabolic risk at this relatively early stage in the life course. It is possible that any influence of periodontitis on cardiometabolic health develops later in life, or periodontitis is not involved in the putative causal chain comprising systemic inflammation, cardiometabolic risk markers, and subsequent cardiovascular risk.

PMID: 30160305 [PubMed - indexed for MEDLINE]

MAP1B mutations cause intellectual disability and extensive white matter deficit.

Nat Commun. 2018 Aug 27;9(1):3456

Authors: Walters GB, Gustafsson O, Sveinbjornsson G, Eiriksdottir VK, Agustsdottir AB, Jonsdottir GA, Steinberg S, Gunnarsson AF, Magnusson MI, Unnsteinsdottir U, Lee AL, Jonasdottir A, Sigurdsson A, Jonasdottir A, Skuladottir A, Jonsson L, Nawaz MS, Sulem P, Frigge M, Ingason A, Love A, Norddhal GL, Zervas M, Gudbjartsson DF, Ulfarsson MO, Saemundsen E, Stefansson H, Stefansson K

Abstract
Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (β = -2.1SD, P = 5.1 × 10-8), 47% less corpus callosum (CC) volume (β = -2.4SD, P = 5.5 × 10-10) and lower brain-wide fractional anisotropy (P = 6.7 × 10-4). In summary, we show that loss of MAP1B function affects general cognitive ability through a profound, brain-wide WM deficit with likely disordered or compromised axons.

PMID: 30150678 [PubMed - in process]

Cerebrospinal Fluid Shunting Complications in Children.

Pediatr Neurosurg. 2017;52(6):381-400

Authors: Hanak BW, Bonow RH, Harris CA, Browd SR

Abstract
Although cerebrospinal fluid (CSF) shunt placement is the most common procedure performed by pediatric neurosurgeons, shunts remain among the most failure-prone life-sustaining medical devices implanted in modern medical practice. This article provides an overview of the mechanisms of CSF shunt failure for the 3 most commonly employed definitive CSF shunts in the practice of pediatric neurosurgery: ventriculoperitoneal, ventriculopleural, and ventriculoatrial. The text has been partitioned into the broad modes of shunt failure: obstruction, infection, mechanical shunt failure, overdrainage, and distal catheter site-specific failures. Clinical management strategies for the various modes of shunt failure are discussed as are research efforts directed towards reducing shunt complication rates. As it is unlikely that CSF shunting will become an obsolete procedure in the foreseeable future, it is incumbent on the pediatric neurosurgery community to maintain focused efforts to improve our understanding of and management strategies for shunt failure and shunt-related morbidity.

PMID: 28249297 [PubMed - indexed for MEDLINE]

Predictors of tobacco and alcohol co-use from ages 15 to 32: The Amsterdam Growth and Health Longitudinal Study.

Exp Clin Psychopharmacol. 2018 Dec;26(6):549-559

Authors: McPherson SM, Burduli E, Smith CL, Brooks O, Orr MF, Barbosa-Leiker C, Hoekstra T, McDonell MG, Murphy SM, Layton M, Roll JM

Abstract
Tobacco and alcohol are often used in tandem over time, but specific predictors of course and patterns of course over time need explication. We examined differences in alcohol and tobacco course among an adolescent population as they transitioned into young adulthood across a 17-year period. Data came from participants (n = 303 for ages 15-21, n = 196 for ages 21 to 32; 52% female and 54% female, respectively) enrolled in the Amsterdam Growth and Health Longitudinal Study, an epidemiologic investigation examining disease across the life span. We utilized parallel latent growth modeling to assess the impact of sex, personality traits, cholesterol, blood pressure, and body mass index (BMI), on initial status and linear change over time in course of tobacco and alcohol. Females reported less alcohol use at adolescent baseline (β = -21.79), less increase during adolescence (β = -7.92, p < .05), slower decrease during young adulthood (β = 4.67, p < .05), and more rapid decline in tobacco use during young adulthood (β = -70.85, p < .05), relative to males. Alcohol and tobacco use baseline status' and change over time were all significantly associated with one another during both adolescence and young adulthood (p < .05; aside from alcohol baseline and slope during young adulthood). Effects of BMI, cholesterol, blood pressure, and personality traits were also observed on tobacco and alcohol course. In light of the strong, but sex dependent relationship between alcohol and tobacco course, particularly from ages 15 to 21, prevention efforts to curb heavy alcohol and tobacco use should consider targeting course taking into account biological sex and other notable covariates. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

PMID: 30148405 [PubMed - indexed for MEDLINE]

CT cervico-cerebral angiography in acute stroke. Can we justify aortic arch imaging?

Ir J Med Sci. 2019 May;188(2):661-666

Authors: Sugrue G, O'Reilly MK, Byrne D, Crockett MT, Murphy S, Kavanagh EC

Abstract
OBJECTIVES: Computed tomography cervico-cerebral angiography (CTCCA) plays a pivotal role in the evaluation of acute stroke. Currently no evidence justifies the inclusion of the upper chest in the CTCCA field of view. The aim of this study was to assess the prevalence and clinical significance of vascular findings identified on CTCCA in the head, neck, and upper chest regions in patients presenting with acute stroke symptoms.
METHODS: A retrospective review of radiology images and reports of 900 consecutive patients (425 men, 475 women; mean age 63.2 years, age range 19-99 years) with a suspected acute stroke who underwent CTCCA in the emergency department between January 2011 and July 2016. Clinically significant vascular CTCCA findings were recorded for each patient within the head, neck, and upper chest regions, respectively.
RESULTS: Of the 900 patients, clinically significant vascular CTCCA findings were identified in 404/900 (44.8%) patients. 218/900 (24.2%) were located within the head region; 174/900 (19.3%) within the neck; and 12/900 (2.4%) in the upper chest. Of the 12 vascular findings located within the upper chest, 3/900 (0.33%) were related to a clinically significant posterior circulation infarct.
CONCLUSIONS: Routine inclusion of the upper chest on CTCCA is currently difficult to justify in the evaluation of a suspected acute anterior circulation stroke, contributing significantly to total radiation dose without demonstrating significant extra-cranial vascular findings. Prospective studies adopting narrower fields of view excluding the upper chest are necessary.

PMID: 30143966 [PubMed - indexed for MEDLINE]

Inside out: Repurposing endobronchial intubation to facilitate extraluminal placement of a 5 Fr Arndt bronchial blocker in young infants.

Paediatr Anaesth. 2018 07;28(7):668-669

Authors: Templeton TW, Lawrence AE, Lee AJ, Templeton LB

PMID: 30133914 [PubMed - indexed for MEDLINE]

A Preregistered Study of Competing Predictions Suggests That Men Do Overestimate Women's Sexual Intent.

Psychol Sci. 2017 02;28(2):253-255

Authors: Murray DR, Murphy SC, von Hippel W, Trivers R, Haselton MG

PMID: 28056212 [PubMed - indexed for MEDLINE]