bluuebunny/crossref_metadata_2025 huggingface dataset:
Impact of Selection of Cord Blood Units from the United States and Swiss Registries on the Cost of Banking Operations
Authors: Bart Thomas , Boo Michael , Balabanova Snejana , Fischer Yvonne , Nicoloso Grazia , Foeken Lydia , Oudshoorn Machteld , Passweg Jakob , Tichelli Andre , Kindler Vincent , Kurtzberg Joanne , Price Thomas , Regan Donna , Shpall Elizabeth J. , Schwabe Rudolf
Published: February 2013

Background: Over the last 2 decades, cord blood (CB) has become an important source of blood stem cells. Clinical experience has shown that CB is a viable source for blood stem cells in the field of unrelated hematopoietic blood stem cell transplantation. Methods: Studies of CB units (CBUs) stored and ordered from the US (National Marrow Donor Program (NMDP) and Swiss (Swiss Blood Stem Cells (SBSC)) CB registries were conducted to assess whether these CBUs met the needs of transplantation patients, as evidenced by units being selected for transplantation. These data were compared to international banking and selection data (Bone Marrow Donors Worldwide (BMDW), World Marrow Donor Association (WMDA)). Further analysis was conducted on whether current CB banking practices were economically viable given the units being selected from the registries for transplant. It should be mentioned that our analysis focused on usage, deliberately omitting any information about clinical outcomes of CB transplantation. Results: A disproportionate number of units with high total nucleated cell (TNC) counts are selected, compared to the distribution of units by TNC available. Therefore, the decision to use a low threshold for banking purposes cannot be supported by economic analysis and may limit the economic viability of future public CB banking. Conclusions: We suggest significantly raising the TNC level used to determine a bankable unit. A level of 125 × 107 TNCs, maybe even 150 × 107 TNCs, might be a viable banking threshold. This would improve the return on inventory investments while meeting transplantation needs based on current selection criteria.
Is an Individual Prediction of Maximal Work Rate by 6-Minute Walk Distance and Further Measurements Reliable in Male Patients with Different Lung Diseases?
Authors: Ochmann Uta , Kotschy-Lang Nicola , Raab Wolfgang , Kellberger Jessica , Nowak Dennis , Jörres Rudolf A.
Published: February 2013

Background: In patients with chronic lung diseases, the work rate for endurance training is calculated by the maximal work rate (Wmax). Because the assessment bears side effects, a prediction by easier accessible tests would be of practical use. Objective: We addressed the reliability of predicting Wmax on the basis of the 6-min walk distance (6MWD) test and a set of further parameters in patients with different lung diseases. Methods: Baseline data of a longitudinal study including 6MWD, Wmax, peripheral muscle force, lung function, fat-free mass and dyspnea (Modified Medical Research Council score) of 255 men with occupational lung diseases (104 asthma, 69 asbestosis, 42 silicosis, 40 chronic obstructive pulmonary disease) were evaluated. Results: 6MWD correlated with Wmax (r = 0.51, p < 0.05). The product of 6MWD and body weight, in particular fat-free mass, led to an improvement in the correlation of Wmax with 6MWD. Muscle force, lung function and Modified Medical Research Council score correlated moderately but significantly with Wmax (p < 0.05 each). The maximum correlation gained by including 6MWD and further parameters in the prediction equations was r = 0.76 in patients with obstructive lung function impairment and r = 0.61 in asbestosis patients. The residual standard deviations of Wmax predicted by the calculated equations ranged between 20 and 28 W, and the 95% prediction intervals of Wmax ranged between ±47 and ±65 W. Conclusions: A reliable prediction of individual Wmax by 6MWD or related measures and therefore a replacement by other tests is not possible. Nevertheless, it may be useful for the comparison of average values in epidemiological and clinical studies.
Variation in Human Brains May Facilitate Evolutionary Change toward a Limited Range of Phenotypes
Authors: Charvet Christine J. , Darlington Richard B. , Finlay Barbara L.
Published: February 2013

Individual variation is the foundation for evolutionary change, but little is known about the nature of normal variation between brains. Phylogenetic variation across mammalian brains is characterized by high intercorrelations in brain region volumes, distinct allometric scaling for each brain region and the relative independence of olfactory and limbic structure volumes from the rest of the brain. Previous work examining brain variation in individuals of some domesticated species showed that these three features of phylogenetic variation were mirrored in individual variation. We extend this analysis to the human brain and 10 of its subdivisions (e.g., isocortex and hippocampus) by using magnetic resonance imaging scans of 90 human brains ranging between 16 and 25 years of age. Human brain variation resembles both the individual variation seen in other species and variation observed across mammalian species, i.e., the relative differences in the slopes of each brain region compared to medulla size within humans and between mammals are concordant, and limbic structures scale with relative independence from other brain regions. This nonrandom pattern of variation suggests that developmental programs channel the variation available for selection.
Prevalence of Dementia in Elderly Clients of a Private Health Care Plan: A Study of the FIBRA-RJ, Brazil
Authors: Correa Ribeiro Pricila Cristina , de Souza Lopes Claudia , Alves Lourenço Roberto
Published: February 2013

Aims: To describe the overall prevalence of dementia syndrome and its major subtypes among elderly clients of a private health care plan and to ascertain the association between this syndrome and socioeconomic characteristics. Methods: A survey was organized in two stages: screening for cognitive impairment and diagnostic evaluation. The study population comprised 683 elderly subjects (aged >67 years), an expanded sample of 7,486 individuals, of the database of the FIBRA-RJ, which evaluated clients of a private health care plan residing in northern districts of the municipality of Rio de Janeiro, Brazil. The diagnosis of dementia was obtained according to DSM-IV criteria. Results: A total of 115 individuals were diagnosed with dementia, resulting in a prevalence of 16.9% (95% CI = 14.4–19.8). The association was strongest among older age groups, i.e. 85–89 years old (prevalence ratio = 8.85; 95% CI = 2.11–37.11) and 90 or more years old (prevalence ratio = 8.85; 95% CI = 2.11–37.11), and among illiterate people (prevalence ratio = 2.77; 95% CI = 1.07–7.19). Sex, personal income and marital status displayed no association with dementia. Conclusion: The prevalence of dementia was higher than found by population-based studies. These findings point to a possibility of a high demand for specialized services among older adults served by the private health care sector.
Live-Born Trisomy 22: Patient Report and Review
Authors: Heinrich T. , Nanda I. , Rehn M. , Zollner U. , Frieauff E. , Wirbelauer J. , Grimm T. , Schmid M.
Published: February 2013

Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient’s clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient’s history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond.
Parenchymal Thickness: Does It Have an Impact on Outcomes of Percutaneous Nephrolithotomy?
Authors: Tepeler Abdulkadir , Binbay Murat , Akman Tolga , Erbin Akif , Kezer Cem , Silay Mesrur Selcuk , Yuruk Emrah , Kardas Sina , Akçay Muzaffer , Armagan Abdullah , Muslumanoglu Ahmet Yaser
Published: February 2013

Objective: To evaluate whether renal parenchymal thickness (RPT) has an effect on the outcomes of percutaneous nephrolithotomy (PNL). Methods: We performed a retrospective analysis of 144 patients with lower pole and/or renal pelvic stones who underwent PNL. The relationship between RPT and peri- and postoperative measures was evaluated. Results: The average age was 45.94 ± 14.47 (15-76) years. The mean BMI was calculated as 27.47 ± 4.73 (16.9-44.9) kg/m2. The mean stone burden was 293 ± 126 (150-800 mm2). The mean RPT was measured as 17.33 ± 5.32 (6-35) mm. No correlation was detected between the RPT and the operation or fluoroscopy times or the duration of hospitalization (p = 0.63, 0.52, 0.08, respectively). The mean drop in hemoglobin level was 1.45 ± 1.25 (0-9) g/dl. A negative correlation was detected between hemoglobin drop and RPT (p = 0.01, r = -0.23). However, the RPT was similar in patients who did or did not require a blood transfusion (p = 0.09). The RPT was found to have no impact on success rate (p = 0.4). Conclusion: The postoperative hemoglobin drop increases in parallel with the increase in RPT. However, no relationship was detected between the RPT and blood transfusion, overall success rate or any other perioperative parameters.
Diagnostic Usefulness of Multifrequency Tympanometry for Ménière’s Disease
Authors: Sugasawa Keiko , Iwasaki Shinichi , Fujimoto Chisato , Kinoshita Makoto , Inoue Aki , Egami Naoya , Ushio Munetaka , Chihara Yasuhiro , Yamasoba Tatsuya
Published: February 2013

Multifrequency tympanometry (MFT) is the measurement of the impedance of the middle ear transmission system at a wide range of frequencies from 200 Hz to 2 kHz. A potential use of MFT as a new diagnostic tool for detecting endolymphatic hydrops has recently been reported. However, its clinical usefulness for diagnosing Ménière’s disease (MD) remains unclear. To evaluate the clinical usefulness of MFT as a new qualitative and diagnostic test for MD, we performed MFT in 70 patients with unilateral or bilateral MD and in 29 normal control subjects. The width of double peaks in the admittance tympanograms (Y width) at 2 kHz and the resonance frequency (RF) were analyzed, and receiver operating characteristic (ROC) curves were constructed. The Y width in MD-affected ears was significantly greater than that in control ears (p < 0.001). The RF in MD-affected ears was significantly lower than that in control ears (p < 0.01). Neither the Y width nor RF had a significant relationship with hearing levels or the results of caloric and vestibular myogenic potential testings. The area under the ROC curve was 0.71 for the Y width and 0.66 for the RF. At the optimal cutoff points, the sensitivity and specificity of the Y width were 47.3 and 86.8%, respectively, and those of the RF were 41.3 and 84.2%, respectively. These results indicated that MFT is significantly associated with the presence of MD, but its diagnostic accuracy is only modest. MFT is a simple, noninvasive test, which should be considered as a complementary test in the diagnosis of MD.
Unclassified Pleomorphic and Spindle Cell Pulmonary Neoplasm with Brain Metastases after Prasugrel
Authors: Serebruany Victor L. , DiNicolantonio James J. , Can Mehmet Mustafa , Goto Shinya
Published: February 2013

Background: There was an excess of new solid neoplasms (112 vs. 69), and cancer deaths (24 vs. 15) after prasugrel in the TRITON (Trial to Assess Improvement in Therapeutic Outcomes by Optimizing Platelet Inhibition). These cancers usually occur after 4 months following prasugrel, and women are especially at risk. The hypothesis has been offered that prasugrel, but not aspirin or clopidogrel, causes indirect modulation of tumor growth, and/or enhanced metastatic dissemination due to instability of platelet-tumor cell aggregates via the inability to keep cancer locally within the platelet thrombi due to excessive chronic platelet inhibition. Case Report: A 70-year old female diabetic patient underwent drug-eluting stent implantation. The patient received a loading dose of prasugrel (60 mg), followed by prasugrel 10 mg/daily as well as aspirin (81 mg/daily). After 4 months on dual antiplatelet therapy she expectorated blood when coughing. A lung X-ray and CT scan revealed numerous lung nodules later diagnosed as unclassified pleomorphic and spindle cell malignant solid neoplasm. The patient died following multiple brain metastasis. Conclusion: Female gender, duration of prasugrel exposure, rare unclassified neoplasm pathology type and a tumor of a highly metastatic and aggressive nature in the index patient should be regarded with caution. The effects of novel antiplatelet agents on the onset of cancer should be tested in future mega-trials.
Autophagy and Viruses: Adversaries or Allies?
Authors: Dong Xiaonan , Levine Beth
Published: February 2013

The autophagy pathway is an essential component of host defense against viral infection, orchestrating pathogen degradation (xenophagy), innate immune signaling, and certain aspects of adaptive immunity. Single autophagy proteins or cassettes of the core autophagy machinery can also function as antiviral factors independently of the canonical autophagy pathway. Moreover, to survive and propagate within the host, viruses have evolved a variety of strategies to evade autophagic attack and manipulate the autophagy machinery for their own benefit. This review summarizes recent advances in understanding the antiviral and proviral roles of autophagy and previously unappreciated autophagy-independent functions of autophagy-related genes.
Interaction between Interferon-Stimulated Gene 56 and Melanoma Differentiation-Associated Gene 5 in Toll-Like Receptor 3 Signaling in Normal Human Mesangial Cells
Authors: Imaizumi Tadaatsu , Aizawa-Yashiro Tomomi , Matsumiya Tomoh , Yoshida Hidemi , Watanabe Shojiro , Tsuruga Kazushi , Tatsuta Tetsuya , Xing Fei , Hayakari Ryo , Meng Pengfei , Tanaka Hiroshi
Published: February 2013

Background/Aims: Toll-like receptor 3 (TLR3) is a pathogen recognition receptor against viral double-stranded RNA. TLR3 signaling is important in antiviral responses, but inappropriate TLR3 signaling may be related with inflammatory renal diseases. Interferon (IFN)-stimulated gene 56 (ISG56) is an IFN-inducible gene that encodes a multifunctional protein with 6 tetratricopeptide motifs and is thought to be involved in antiviral reactions, but the role of ISG56 in TLR3 signaling in mesangial cells is not known well. Methods: Normal human mesangial cells were cultured and treated with a synthetic TLR3 ligand polyinosinic-polycytidylic acid, and the expression of ISG56 was analyzed using real-time RT-PCR and Western blot analyses. Using an RNA-interfering technique, involvement of TLR3, IFN-β, melanoma differentiation-associated gene 5 (MDA5) or retinoic acid-inducible gene-I (RIG-I) in ISG56 expression, and of ISG56 in the expression of MDA5, RIG-I, CXCL10 and CCL5 was examined. Results: Treatment of cells with polyinosinic-polycytidylic acid induced ISG56. ISG56 induction was inhibited by knockdown of TLR3 or IFN-β, and knockdown of ISG56 resulted in the decreased expression of MDA5, RIG-I, CXCL10 and CCL5. RNA interference against MDA5 decreased ISG56 expression. Conclusion: ISG56 was induced by TLR3 signaling via newly synthesized IFN-β. ISG56 is involved in the expression of MDA5, RIG-I, CXCL10 and CCL5, and ISG56 and MDA5 may constitute a positive-feedback loop. ISG56 may play a role in immune and inflammatory reactions induced by TLR3 signaling in human mesangial cells.
Reduction of Group II Metabotropic Glutamate Receptors during Development of Benzodiazepine Dependence
Authors: Okamoto Ritsuko , Itoh Yoshinori , Murata Yusuke , Kobayashi Daisuke , Hosoi Masako , Mine Kazunori
Published: February 2013

Prolonged use of benzodiazepines often leads to dependence and withdrawal syndrome. However, the cellular mechanisms underlying benzodiazepine dependence have not been fully clarified. Several investigators have shown an involvement of metabotropic glutamate receptors (mGluRs) in the pathophysiology of dependence or withdrawal. This study was performed to elucidate the role of mGluRs in benzodiazepine dependence. Withdrawal signs were precipitated in mice by flumazenil injection (25 mg/kg) after continuous subcutaneous infusion of benzodiazepines for 7 days, and the effects of several Gi-coupled receptor ligands on forskolin-stimulated cyclic AMP accumulation were examined in the cerebral cortex of mice. The mRNA expression for mGluRs was determined by RT-PCR. A single injection of flumazenil precipitated typical withdrawal signs such as tail elevation and tremor in mice treated with diazepam or alprazolam, but not quazepam. The inhibitory effect of nonselective mGluR ligands on adenylate cyclase activity was diminished in mice that showed signs of benzodiazepine withdrawal. The mRNA expression levels of mGluR2 and mGluR3 were lowered in the cerebral cortex of mice pretreated with diazepam or alprazolam. Our findings suggest that the reduction in the expression of group II mGluRs subunits may be involved in the development of benzodiazepine dependence.
Increased Spironolactone in Advanced Heart Failure: Effect of Doses Greater than 25 mg/Day on Plasma Potassium Concentration
Authors: Shchekochikhin Dmitry , Lindenfeld JoAnn , Schrier Robert
Published: February 2013

Background: Daily doses of spironolactone higher than 25 mg are rarely used in heart failure (HF) patients, presumably due to the concern for hyperkalemia. However, in advanced HF, doses ≥50 mg have been found to be necessary to produce natriuresis. The aim of the present study was to examine the safety of natriuretic doses of spironolactone (50–200 mg) on serum potassium concentration in New York Heart Association (NYHA) class III/IV HF patients over several weeks. Methods: 18 patients with advanced HF received 50–200 mg of spironolactone in addition to standard treatment. Serum electrolytes, BUN and serum creatinine were assessed at baseline, during increased doses of spironolactone and at the 1-month follow-up. Results: During a total of 738 patient-weeks, there was no significant increase in mean serum potassium (4.0 vs. 4.2 mEq/l) or serum creatinine (1.3 vs. 1.4 mg/dl). However, in 3 patients, spironolactone treatment was stopped due to a mean increase in serum creatinine (1.9 vs. 2.6 mg/dl) and in one of them, an increase in serum potassium (4.4 vs. 5.2 mEq/l) was noted. Conclusion: Increased doses of spironolactone are generally safe during outpatient follow-up in selected patients with advanced HF, who are receiving treatment with ACE inhibitors, beta-blockers, and loop diuretics.
Esophageal Perforation: Clinical Patterns and Outcomes from a Patient Cohort of Western Norway
Authors: Søreide Jon Arne , Konradsson Andri , Sandvik Oddvar M. , Øvrebø Kjell , Viste Asgaut
Published: February 2013

Background: Esophageal perforation is a rare, often life-threatening condition, and management remains challenging. Methods: Retrospective review of consecutive patients with esophageal perforation treated at two university hospitals between 2000 and 2010. Pertinent data from hospital records were retrieved for statistical calculations and evaluation of perforation score. Results: Forty-seven patients [47% female, median age 62 years (range 15–88)] were included. The annual incidence was 4.7/1,000,000. Perforations were spontaneous in 14 patients (30%), iatrogenic in 25 (53%), and caused by trauma and foreign body impaction in 8 patients (17%). ASA score (p = 0.004), perforation localization (p = 0.001), diagnostic delay (p = 0.002), and perforation score (p < 0.001) differed significantly between patient groups with different etiology, but not between groups with different outcomes. Early diagnosis (≤24 h) was significantly associated with a low perforation score (p = 0.033). A non-operative approach was employed in 26 patients (55%) – more commonly for proximally localized perforations (p = 0.045). The non-operative group showed lower severe complication rates (p = 0.033), shorter ICU stays (p < 0.001) and durations of mechanical ventilation (p = 0.022). The overall 30-day mortality was 23.4%. Conclusion: Careful clinical evaluation and appropriate, individualized treatment are important. The high mortality may be partly explained by the underlying disease and the complexity of the clinical condition in many patients.
Abnormal Glucose Metabolism and Insulin Sensitivity in Chinese Patients with Gitelman Syndrome
Authors: Ren Hong , Qin Ling , Wang WeiMing , Ma Jun , Zhang Wen , Shen Ping Yan , Shi Hao , Li Xiao , Chen Nan
Published: February 2013

Background: Gitelman syndrome (GS) is an autosomal recessive disease of renal tubulopathy, primarily characterized by hypokalemic metabolic alkalosis with significant hypomagnesemia, low urinary calcium, secondary aldosteronism and normal blood pressure. Both hypokalemia and hypomagnesemia were reported to cause impaired glucose tolerance and/or insulin resistance, but it is unclear whether impaired glucose tolerance and/or insulin resistance are common in GS patients. Methods: An oral glucose tolerance test was performed among 16 GS patients and 12 healthy adults as control subjects. Fasting glucose and serum insulin levels were measured and the values of glucose and serum insulin after 30, 60, 120 and 180 min were also measured after an oral glucose load. The area under curve (AUC) of glucose and insulin was calculated. Results: One patient had isolated impaired fasting glucose, 2 had isolated impaired glucose tolerance, and 1 had combined impaired fasting glucose and glucose tolerance. Six patients were diagnosed with type 2 diabetes mellitus. Compared with a healthy normal control group, GS patients showed a higher AUC glucose level [16.1 (IQR 12.5–25.4 mEq · h/l) vs. 13.0 (IQR 11.9–13.7 mEq · h/l); p < 0.05] and AUC insulin level [81.0 (IQR 58.9–138 µU · h/ml) vs. 46.4 (IQR 35.6–63.3 µU · h/ml); p < 0.01]. GS patients showed a delay of insulin secretion peak which was observed 120 min after a glucose load. Homeostasis model assessment of insulin resistance in GS patients was significantly higher than in control volunteers. Quantitative insulin sensitivity check index and insulin sensitivity index composite in the GS group were significantly lower than in the control group. Conclusion: Abnormal glucose metabolism and insulin secretion is common in GS patients. It is speculated that hypokalemia and hypomagnesemia may be the main cause.
Healthy Behaviors, Risk Factor Control and Awareness of Chronic Kidney Disease
Authors: Tuot Delphine S. , Plantinga Laura C. , Judd Suzanne E. , Muntner Paul , Hsu Chi-yuan , Warnock David G. , Gutiérrez Orlando M. , Safford Monika , Powe Neil R. , McClellan William M. ,   for the REGARDS Investigators
Published: February 2013

Background/Aims: The association between chronic kidney disease (CKD) awareness and healthy behaviors is unknown. We examined whether CKD self-recognition is associated with healthy behaviors and achieving risk-reduction targets known to decrease risk of cardiovascular morbidity and CKD progression. Methods: CKD awareness, defined as a ‘yes’ response to ‘Has a doctor or other health professional ever told you that you had kidney disease?’, was examined among adults with CKD (eGFR <60 ml/min/1.73 m2) who participated in the REasons for Geographic And Racial Differences in Stroke (REGARDS) study. Odds of participation in healthy behaviors (tobacco avoidance, avoidance of regular nonsteroidal anti-inflammatory drug use, and physical activity) and achievement of risk-reduction targets (angiotensin-converting enzyme inhibitor/angiotensin receptor blocker use, systolic blood pressure control and glycemic control among those with diabetes) among those aware versus unaware of their CKD were determined by logistic regression, controlling for sociodemographics, access to care and comorbid conditions. Systolic blood pressure control was defined as <130 mm Hg (primary definition) or <140 mm Hg (secondary definition). Results: Of 2,615 participants, only 6% (n = 166) were aware of having CKD. Those who were aware had 82% higher odds of tobacco avoidance compared to those unaware (adjusted OR = 1.82, 95% CI 1.02–3.24). CKD awareness was not associated with other healthy behaviors or achievement of risk-reduction targets. Conclusions: Awareness of CKD was only associated with participation in one healthy behavior and was not associated with achievement of risk-reduction targets. To encourage adoption of healthy behaviors, a better understanding of barriers to participation in CKD-healthy behaviors is needed.
An Optical Coherence Tomography and Fundus Autofluorescence Imaging Study of Peripapillary Acute Zonal Occult Outer Retinopathy
Authors: Makino Shinji , Tanaka Yoshiaki , Tampo Hironobu
Published: February 2013

Purpose: To evaluate peripapillary acute zonal occult outer retinopathy in a 67-year-old man. Methods: Images were obtained using fundus photography, fluorescein angiography (FA) and indocyanine green angiography (ICGA), fundus autofluorescence (FAF) imaging, and optical coherence tomography (OCT). Visual field testing and multifocal electroretinogram (mfERG) were also performed to evaluate retinal function. Results: Fundus photographs showed subtle pigmentary changes in the peripapillary region, while FAF imaging showed clearly defined hypofluorescent areas in the peripapillary region. Intense hyperfluorescent lesions were also seen underneath hypofluorescent areas. A transmission defect with a granular hyperfluorescence was visible on FA, and ICGA showed hypofluorescence within the lesion. The outer border of the peripapillary zone appeared to block the underlying choroidal fluorescence. The photoreceptor inner segment/outer segment line was absent on OCT images from this area in both eyes, and hyperreflective punctate drusen-like materials were present at the outer border of the peripapillary zone. Visual field testing by Goldmann perimetry showed blind-spot enlargement, and mfERG showed corresponding amplitude reductions. Conclusions: We speculate that the intense hyperautofluorescent material at the outer border of the peripapillary zone might be accumulated drusenoid lipofuscin.
Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation
Authors: Ratbi I. , Fejjal N. , Micale L. , Augello B. , Fusco C. , Lyahyai J. , Merla G. , Sefiani A.
Published: February 2013

Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects. Point mutations and large intragenic deletions and duplications of the mixed lineage leukemia 2 (MLL2) and exons deletions of lysine demethylase 6A (-KDM6A) genes have been identified as its underlying causes. We report on the first description of a Moroccan Kabuki syndrome patient with typical facial features, developmental delay, finger pads, and other anomalies carrying a novel splice site mutation in the MLL2 gene that produces a truncated and likely pathogenetic form of MLL2 protein.
Clinically Meaningful Responses to Sequential Gemcitabine-Based Chemotherapy Regimens in a Patient with Metastatic Pancreatic Cancer
Authors: Klimant Eiko , Markman Maurie , Albu Daniela M.
Published: February 2013

Pancreatic cancer exhibits profound chemoresistance resulting either from pre-existing (intrinsic) mechanisms, or from anticancer drug treatment itself (acquired chemoresistance). We present the case of a patient with pancreatic adenocarcinoma metastatic to the liver who experienced clinical, radiographic and tumor marker response to three lines of gemcitabine-based chemotherapy. The regimens included: 8 cycles of gemcitabine and oxaliplatin (GEMOX), 8 cycles of gemcitabine, docetaxel and capecitabine (GTX) and more than 3 cycles of gemcitabine and nab-paclitaxel, with an exceptional response 2 years from the initiation of chemotherapy for metastatic pancreatic cancer.
Juvenile Stroke: Cervical Artery Dissection in a Patient after a Polytrauma
Authors: Marschner-Preuth Nicole , Warnecke Tobias , Niederstadt Thomas-Ulrich , Dittrich Ralf , Schäbitz Wolf-Rüdiger
Published: February 2013

Dissections of the cervical arteries cause about 20% of total juvenile strokes. Approximately 4% of the carotid artery dissections are due to a (poly)trauma such as car accidents. Despite improved diagnostic facilities, traumatic dissections are often underdiagnosed or diagnosed too late due to a lack of awareness of potential initial signs and symptoms.We report here a case of a delayed embolic stroke after a car accident caused by a dissection of the carotid artery and subsequent pseudoaneurysm.To reduce the long-term morbidity or mortality of multiple trauma patients, an early detection of cervical carotid and vertebral dissections is strictly necessary.
Recurrence of Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis in Appropriately Immunosuppressed Renal Transplant Patients: A Discussion of Two Cases
Authors: O’Brien Frank J. , Abdalla Ahad , Wong Limy , Traynor Carol A. , Cheriyan Paul , Kok Hong Kwan , Casserly Liam , Dorman Anthony , Conlon Peter J.
Published: February 2013

Background: Granulomatosis with polyangiitis (GPA) (formerly known as Wegener’s granulomatosis) is a multisystem autoimmune disease of unknown aetiology. Renal disease manifests as a crescentic glomerulonephritis, with varying degrees of renal failure. Ten percent of patients progress to end-stage kidney disease. Relapse of GPA in renal transplant patients is rare, with a rate of 0.09 relapses per patient per year. Patients and Methods: We describe two cases of GPA relapse in immunosuppressed renal transplant patients. Results: These patients presented with new-onset graft disfunction, having previously had an uncomplicated posttransplant course. Both patients were on appropriate doses of immunosuppressive agents at the time of relapse, with therapeutic target levels of tacrolimus. We describe the background history and management of both patients. Conclusion: The cases described inform us that although recurrence of anti-neutrophil cytoplasmic antibody vasculitis in transplant patients is rare, it should remain on our list of differential diagnoses in allograft disfunction.
A review of New Zealand and southeast Australian echinothuriinids (Echinodermata: Echinothuriidae) with descriptions of seven new species
Authors: ANDERSON OWEN F.
Published: February 2013

Examination of a large collection of echinothurioid echinoids from museum collections in New Zealand and Australia re-vealed six new species in the genus Araeosoma (A. bidentatum sp. nov., A. migratum sp. nov., A. anatirostrum sp. nov., A. tertii sp. nov., A. leppienae sp. nov., and A. bakeri sp. nov.) and one in the genus Hapalosoma (H. amynina sp. nov.), while the recorded presence of A. coriaceum in northwest New Zealand was found to be incorrect. Several of the species described are rarely collected, their distribution being strongly associated with seamount type habitat in a relatively narrow depth range. The majority of the records of these new species are from the New Zealand region, with a strong centre of diversity revealed among the seamounts of the Bay of Plenty. The new species are clearly distinguished from known forms by characters of their pedicellariae, spines, coronal plate structure, colouring, and tuberculation. A key to the Echinothu-riinae of the region is included.
A new species of Havelockia Pearson, 1903 from the Argentine Sea (Holothuroidea: Dendrochirotida: Sclerodactylidae)
Authors: MARTINEZ MARIANO I. , THANDAR AHMED S. , PENCHASZADEH PABLO E.
Published: February 2013

Havelockia pegi sp. nov., is here described from shallow waters of the Argentine Sea. This new species is distinctive in the purple colouration of its tentacles, scarcity of body wall ossicles and the presence of rosette-shaped ossicles in both the introvert and the tentacles. It is not closely related to any of its congenors. This is the first record of a true sclerodactylid from Argentina. Thandarum hernandezi Martinez & Brogger, 2012, described in the family Sclerodactylidae, is now clas-sified in the family Sclerothyonidae.
A Phylogeny and Classification of the Senticaudata subord. nov. Crustacea: Amphipoda)
Authors: LOWRY J. K. , MYERS A. A.
Published: February 2013

The Amphipoda includes a large clade defined by the presence of a previously unrecognised synapomorphy, apical robust setae on the rami of uropods 1–2. We term this clade the Senticaudata subord. nov. (Latin: sentis = thorn). It includes almost all freshwater species as well as a number of marine benthic taxa, formerly part of the ‘Gammaridea’. The phylogeny of the senticaudates was determined by cladistic analysis of morphological characters and character states. Within the suborder Senticaudata there are six infraorders: Carangoliopsida, Talitrida, Hadziida, Corophiida, Bogidiellida and Gammarida. A classification is provided and all the senticaudate families are diagnosed. We introduce for the first time in amphipod classification, the level parvorder between infraorder and superfamily. Four new families are described: Kairosidae; Eriopisidae; Nuuanuidae and Kergueleniolidae.
Revision of the family Listropsoralgidae Fain, 1965 (Acariformes: Sarcoptoidea)—skin parasites of marsupials and rodents
Authors: BOCHKOV ANDRE V , OCONNOR BARRY M , GROOTAERT PATRICK
Published: February 2013

The family Listropsoralgidae Fain, 1965 (Acariformes: Sarcoptoidea) is represented by the permanent skin ectoparasites associated with the South American and Australian marsupials (12 species) and the South American rodents of the family Echimyidae (1 species). The phylogenetic relationships of these mites (12 ingroup and 2 outgroup species) are reconstructed on the basis of the maximum parsimony (MP) and Bayesian analyses (BA) of 76 morphological characters. MP analysis confirmed monophyly of the listropsoralgid genera, the strict consensus of 18 trees generated by MP has the following pattern: Petauralges (Listropsoralgoides, Didelphialges, Listropsoralges) with poor resolution among species of the genus Listropsoralges. The same tree was generated by BA. Both successive and implied weighting strategies resulted in 7 MP trees: Petauralges (Listropsoralgoides (Didelphialges (Listropsoralges))). The relationships between species of the genus Listropsoralges received the poorest resolution: L. caenolestes (L. monodelphis, L. vossi, L. faini, L. brevisetosa (L. thylamys (L. marmosa–L. caluromys))). The host-parasite relationships of listropsoralgids are briefly discussed. The family Listropsoralgidae is taxonomically revised and to date includes 13 species in 4 genera. Six species and one genus are described as new: Listropsoralges brevisetosus sp. n. from Marmosa murina (Didelphimorphia: Didelphidae) from Peru, Listropsoralges similis sp. n. from Caluromys derbianus (Didelphidae) from Panama, Listropsoralges thylamys sp. n. from Thylamys venustus (Didelphidae) from Bolivia, Listropsoralges vossi sp. n. from Monodelphis domestica (Didelphidae) from Brazil, Listropsoralges caenolestes sp. n. from Caenolestes fuliginosus (Paucituberculata: Caenolestidae) from Ecuador, and Didelphialges metachirus gen. n., sp. n. from Metachirus nudicaudatus (Didelphidae) from Peru. The female of Listropsoralges faini Bochkov and Wauthy, 2009 is described for the first time.
A Predominant Reversal in the Relationship between the SAM and East Antarctic Temperatures during the Twenty-First Century
Authors: Marshall Gareth J. , Orr Andrew , Turner John
Published: February 2013

The scientific literature portrays a temporally invariant spatial relationship between the phase of the southern annular mode (SAM) and the sign of surface air temperature (SAT) anomalies across Antarctica. However, here the authors describe a predominant switch from a negative to positive SAM–temperature relationship (STR) across East Antarctica in austral summer/autumn during the first decade of the twenty-first century, when the SAM was generally weakly positive. Of the nine years that had a positive regional STR from 1957 to 2010, seven occurred during the last decade. This reversal appears to be a response to anomalous high pressure over East Antarctica, resulting from variability in the phase and amplitude of the local component of the zonal wavenumber 3 pressure pattern. In years when a reversed (positive) regional STR exists the anomalous circulation is such that there is greater energy flux into the region, while enhanced katabatic drainage across the continental interior disrupts the surface temperature inversion leading to warmer SATs inland, too. The average summer/autumn SAT increase across East Antarctica for years with reversed versus standard STR is ~1°C. Anthropogenically forced models fail to reproduce the trend toward the anomalous high pressure pattern so it is likely that the STR switch is due to natural internal climate variability. That such broadscale STR reversals can take place on decadal time scales needs to be considered when detecting and attributing recent Antarctic climate change and when utilizing isotope data from the East Antarctic ice core record to provide a proxy SAM index prior to the instrumental record.
The Impact of Precipitation Type Discrimination on Hydrologic Simulation: Rain–Snow Partitioning Derived from HMT-West Radar-Detected Brightband Height versus Surface Temperature Data
Authors: Mizukami Naoki , Koren Victor , Smith Michael , Kingsmill David , Zhang Ziya , Cosgrove Brian , Cui Zhengtao
Published: February 2013

Hourly surface precipitation type (Ptype) grids (a total of 408 h from 1 December 2005 through April 20, 2006) were generated by mapping the elevation of the radar-detected brightband height (BBH) to terrain elevation during the 2005/06 observation period of the western Hydrometeorology Testbed (HMT-West) in the North Fork American River basin. BBH Ptype grids were compared to those derived by the standard National Weather Service (NWS) temperature threshold method. In this method, a fixed threshold temperature separating rain and snow was applied to hourly 4-km gridded temperature data. The BBH Ptype grids agreed well (>90%) with the temperature threshold–based grids below an elevation of 1524 m. The agreement dropped to below 60% above this elevation, and BBH Ptype produced more rainfall than the temperature-based Ptype. Continuous hourly streamflow simulations were generated using spatially lumped and distributed hydrologic models with and without the BBH Ptype data from 1 October 2005 through 30 September 2006. Simple insertion of BBH Ptype data did not always improve streamflow simulations for the 11 events examined relative to corresponding simulations using temperature threshold–derived precipitation type, possibly because of the use of the models calibrated with the temperature-based Ptype. The simple sensitivity test indicated simulations of both peak flows from midwinter storms and spring snowmelt runoff are affected by errors in precipitation type estimates.
Geostationary Enhanced Temporal Interpolation for CERES Flux Products
Authors: Doelling David R. , Loeb Norman G. , Keyes Dennis F. , Nordeen Michele L. , Morstad Daniel , Nguyen Cathy , Wielicki Bruce A. , Young David F. , Sun Moguo
Published: February 2013

The Clouds and the Earth’s Radiant Energy System (CERES) instruments on board the Terra and Aqua spacecraft continue to provide an unprecedented global climate record of the earth’s top-of-atmosphere (TOA) energy budget since March 2000. A critical step in determining accurate daily averaged flux involves estimating the flux between CERES Terra or Aqua overpass times. CERES employs the CERES-only (CO) and the CERES geostationary (CG) temporal interpolation methods. The CO method assumes that the cloud properties at the time of the CERES observation remain constant and that it only accounts for changes in albedo with solar zenith angle and diurnal land heating, by assuming a shape for unresolved changes in the diurnal cycle. The CG method enhances the CERES data by explicitly accounting for changes in cloud and radiation between CERES observation times using 3-hourly imager data from five geostationary (GEO) satellites. To maintain calibration traceability, GEO radiances are calibrated against Moderate Resolution Imaging Spectroradiometer (MODIS) and the derived GEO fluxes are normalized to the CERES measurements. While the regional (1° latitude × 1° longitude) monthly-mean difference between the CG and CO methods can exceed 25 W m−2 over marine stratus and land convection, these regional biases nearly cancel in the global mean. The regional monthly CG shortwave (SW) and longwave (LW) flux uncertainty is reduced by 20%, whereas the daily uncertainty is reduced by 50% and 20%, respectively, over the CO method, based on comparisons with 15-min Geostationary Earth Radiation Budget (GERB) data.
Joint Impact of Forecast Tendency and State Error Biases in Ensemble Kalman Filter Data Assimilation of Inner-Core Tropical Cyclone Observations
Authors: Vukicevic Tomislava , Aksoy Altuğ , Reasor Paul , Aberson Sim D. , Sellwood Kathryn J. , Marks Frank
Published: February 2013

In this study the properties and causes of systematic errors in high-resolution data assimilation of inner-core tropical cyclone (TC) observations were investigated using the Hurricane Weather Research and Forecasting (HWRF) Ensemble Data Assimilation System (HEDAS). Although a recent study by Aksoy et al. demonstrated overall good performance of HEDAS for 83 cases from 2008 to 2011 using airborne observations from research and operational aircraft, some systematic errors were identified in the analyses with respect to independent observation-based estimates. The axisymmetric primary circulation intensity was underestimated for hurricane cases and the secondary circulation was systematically weaker for all cases. The diagnostic analysis in this study shows that the underestimate of primary circulation was caused by the systematic spindown of the vortex core in the short-term forecasts during the cycling with observations. This tendency bias was associated with the systematic errors in the secondary circulation, temperature, and humidity. The biases were reoccurring in each cycle during the assimilation because of the inconsistency between the strength of primary and secondary circulation during the short-term forecasts, the impact of model error in planetary boundary layer dynamics, and the effect of forecast tendency bias on the background error correlations. Although limited to the current analysis the findings in this study point to a generic problem of mutual dependence of short-term forecast tendency and state estimate errors in the data assimilation of TC core observations. The results indicate that such coupling of errors in the assimilation would also lead to short-term intensity forecast bias after the assimilation for the same reasons.
Circulations, Bounded Weak Echo Regions, and Horizontal Vortices Observed within Long-Lake-Axis-Parallel–Lake-Effect Storms by the Doppler on Wheels*
Authors: Steiger Scott M. , Schrom Robert , Stamm Alfred , Ruth Daniel , Jaszka Keith , Kress Timothy , Rathbun Brett , Frame Jeffrey , Wurman Joshua , Kosiba Karen
Published: February 2013

The eastern Great Lakes (Erie and Ontario) are often affected by intense lake-effect snowfalls. Lake-effect storms that form parallel to the major axes of these lakes can strongly impact communities by depositing more than 100 cm of snowfall in less than 24 h. Long-lake-axis-parallel (LLAP) storms are significantly different in structure and dynamics compared to the much more studied wind-parallel roll storms that typically form over the western Great Lakes. A Doppler on Wheels (DOW) mobile radar sampled several of these storms at fine spatial and temporal resolutions (and close to the surface) during the winter of 2010–11 over and downwind of Lake Ontario to document and improve understanding of how these storms develop. Over 1100 observations of vortices were catalogued within the 16 December 2010 and 4–5 January 2011 events. The majority of these vortices were less than 1 km in diameter with a statistical modal difference in Doppler velocity (delta-V) value across the vortex of 11 m s−1. Vortices developed along boundaries, which formed within the bands, suggesting horizontal shear instability was the main cause. Other features noted in the DOW observations included bounded weak echo regions, anvils, and horizontal vortices, typically on the south side of west–east-oriented LLAP bands. The reflectivity and velocity structure of LLAP bands were found to be much more complex than previously thought, which may impact localized precipitation amounts and errors in forecast location/intensity.
An Inner-Shelf Wave Forecasting System for the U.S. Pacific Northwest
Authors: García-Medina Gabriel , Özkan-Haller H. Tuba , Ruggiero Peter , Oskamp Jeffrey
Published: February 2013

An operational inner-shelf wave forecasting system was implemented for the Oregon and southwest Washington coast in the U.S. Pacific Northwest (PNW). High-resolution wave forecasts are useful for navigational planning, identifying wave energy resources, providing information for site-specific coastal flood models, and having an informed recreational beach user group, among other things. This forecasting model is run once a day at 1200 UTC producing 84-h forecasts. A series of nested grids with increasing resolution shoreward are implemented to achieve a 30-arc-second resolution at the shelf level. This resolution is significantly higher than what the current operational models produce, thus improving the ability to quantify the alongshore variations of wave conditions on the PNW coast. Normalized root-mean-squared errors in significant wave height and mean wave period range from 0.13 to 0.24 and from 0.13 to 0.26, respectively. Visualization of the forecasts is made available online and is presently being used by recreational beach users and the scientific community. A series of simulations, taking advantage of having a validated shelf-scale numerical wave model, suggests that neither dissipation due to bottom friction nor wind generation is important in the region at this scale for wave forecasting and hindcasting when considering bulk parameters as opposed to the processes of refraction and shoaling. The Astoria and McArthur Canyons; the Stonewall, Perpetua, and Heceta Banks; and Cape Blanco are significant bathymetric features that are shown to be capable of producing alongshore variability of wave heights on the shelf.