bluuebunny/crossref_metadata_2025 huggingface dataset:
Nocturnal Enuresis Antecedent Is Common in Adolescents with Migraine
Authors: Lin Jaime , Rodrigues Masruha Marcelo , Prieto Peres Mario Fernando , Cianciarullo Minett Thais Soares , de Souza Vitalle Maria Sylvia , Amado Scerni Débora , Pereira Vilanova Luiz Celso
Published: May 2012

Background: Migraine and nocturnal enuresis are highly prevalent disorders with striking similarities. Both have unknown pathophysiology and are considered multifactorial, with neurobiological, genetic, and behavioral aspects involved. Interestingly, the same neurological structures thought to be involved in the pathogenesis of migraine are also thought to be involved in nocturnal enuresis. Few studies, however, have addressed these conditions as related. The aim of this study was to evaluate the antecedent of nocturnal enuresis in a large consecutive series of adolescents with migraine as compared to controls. Methods: A total of 151 subjects were evaluated; 50 had episodic migraine, 50 had chronic migraine, and 51 were control subjects. All patients were submitted to a detailed questionnaire addressing epidemiological and clinical aspects. Results: There was a strong correlation between the clinical history of nocturnal enuresis and the diagnosis of migraine. Conclusion: Our study showed that nocturnal enuresis is a precursor of migraine and a migraine comorbid condition. These results support a pathophysiological linkage between the two conditions.
Enormous Cystic Tumor of Peritoneal Psammocarcinoma Exhibiting Complete Response to Cisplatin and Cyclophosphamide after Suboptimal Cytoreduction: Case Report and Review of the Literature
Authors: Takahashi Ryoko , Ueda Yutaka , Shioji Mitsunori , Adachi Shiro , Ohashi Hiroshi , Morii Eiichi , Aozasa Katsuyuki , Yoshino Kiyoshi , Fujita Masami , Enomoto Takayuki , Kimura Tadashi , Tokuhira Atsushi
Published: May 2012

Psammocarcinoma is a serous peritoneal tumor arising from the ovary or the peritoneum and characterized by low-grade nuclear features, extensive psammoma bodies, and invasiveness. Only 62 cases have ever been documented, 30 primary peritoneal and 32 primary ovarian, most of which presented as small tumors. Adjuvant therapies, including chemotherapy and radiation, were performed in 12 of the primary peritoneal cases, without any clear evidence of benefit. We present a case of an unusually large primary peritoneal psammocarcinoma with unexpected outcome. The patient was a 38-year-old woman with a tumor of the peritoneum which adhered densely to the uterus and rectum and developed into the intra-abdominal cavity and retroperitoneal space. After adhesiolysis of the tumor and rectum, suboptimal surgical reduction left a 4 cm × 2 cm tumor segment. Postoperative chemotherapy, consisting of paclitaxel and carboplatin (TC) for 1 course, and cyclophosphamide and cisplatin (CP) for 5 courses, was conducted. The residual tumor responded completely to the chemotherapy and the patient is alive today, with no evidence of disease 15 months after the surgery. Our case implies that CP therapy is a potential regimen of postoperative remission-induction therapy for suboptimally resected primary peritoneal psammocarcinoma.
Sunitinib-Induced Autoimmune Thyroiditis in a Patient with Metastatic Renal Cell Carcinoma: A Case Report
Authors: Babacan T. , Sevinc A. , Akarsu E. , Balakan O.
Published: May 2012

Sunitinib is an oral multitargeted tyrosine kinase inhibitor that was newly approved by the FDA for the treatment of renal cell carcinoma and imatinib-resistant gastrointestinal stromal tumors. Although generally well tolerated, common side effects of sunitinib have been reported, with an important and well-recognized example being hypothyroidism. Although the exact mechanism of sunitinib-induced hypothyroidism is unclear, some authors have suggested sunitinib might induce hypothyroidism by the blockade of iodine uptake, destructive thyroiditis and inhibition of peroxidase activity. In these studies autoimmune-mediated hypothyroidism could not be demonstrated as an etiological factor. We herein report the case of a 71-year-old woman diagnosed as metastatic renal cell carcinoma with severe autoimmune hypothyroidism associated with sunitinib after 10 months of treatment. To the best of our knowledge, this is the first report that shows sunitinib may induce autoimmune thyroiditis. Further clinical and experimental studies with larger patient groups are required to verify the findings of the present study. Routine monitoring of thyroid autoantibodies including antithyroglobulin and antithyroid peroxidase antibodies and thyroid ultrasonography are recommended during the treatment of sunitinib-induced hypothyroidism.
Spirometric Reference Values for an East-African Population
Authors: Musafiri Sanctus , van Meerbeeck Jan P. , Musango Laurent , Derom Eric , Brusselle Guy , Joos Guy , Rutayisire Claver
Published: May 2012

Background: Accurate interpretation of lung function testing requires appropriate reference values. Unfortunately, few African countries have produced spirometric reference values for their populations. Objectives: The present study was carried out in order to establish normal lung function values for subjects living in Rwanda, East Africa. Methods: The study was conducted in Kigali, capital of Rwanda, and in the rural district of Huye in southern Rwanda. The variables studied were forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and peak expiratory flow. Multiple regression analysis was performed using age, height, weight and BMI as independent variables to obtain predicted equations for both sexes. Results: Predicted equations for normal lung functions were obtained from 740 healthy nonsmoking subjects; 394 were females and 346 were males. Minor differences in FEV1 and FVC were observed in comparison with other studies of Africans, African-Americans (difference in FEV1 and FVC of less than 5%), Chinese and Indians. When compared with selected studies from Caucasians and white Americans, our results for FEV1 and FVC were 9-12% and 16-18% lower in men and 12-23% and 17-28% lower in women, respectively. Conclusions: This study provides reference values for pulmonary function in a healthy, nonsmoking Rwandan population and enables comparisons to be made with other prediction equations from other populations. Spirometric reference values in our study were similar to those obtained in a study of black Americans by Hankinson et al. [Am J Crit Care Med 1999;159:179-187].
Genetic Variations in Polyunsaturated Fatty Acid Metabolism – Implications for Child Health?
Authors: Lattka Eva , Klopp Norman , Demmelmair H. , Klingler M. , Heinrich Joachim , Koletzko Berthold
Published: May 2012

Sufficient nutritional supply with polyunsaturated fatty acids (PUFAs) has long been considered as beneficial for child health, especially in regard to neuronal development and allergic diseases. In recent years, genetic association studies showed that in addition to nutritional influences, the genetic background is highly important for PUFA composition in human tissues. Specifically, polymorphisms in the fatty acid desaturase genes or FADS determine the efficiency of how PUFAs are processed endogenously. Recent gene-nutrition interaction studies suggest that these polymorphisms modulate the effect of nutritional fatty acid intake on complex phenotypes such as cognitive outcomes and asthma risk in children. These early results may provide the basis for future well-specified dietary recommendations to achieve optimal health benefit for all children. This article presents results from recent gene-nutrition interaction studies, discusses its implications for child health, and gives an outlook how this association might translate into clinical practice in the future.
Diet-Gene Interactions Underlie Metabolic Individuality and Influence Brain Development: Implications for Clinical Practice Derived from Studies on Choline Metabolism
Authors: Zeisel Steven H.
Published: May 2012

One of the underlying mechanisms for metabolic individuality is genetic variation. Single nucleotide polymorphisms (SNPs) in genes of metabolic pathways can create metabolic inefficiencies that alter the dietary requirement for, and responses to, nutrients. These SNPs can be detected using genetic profiling and the metabolic inefficiencies they cause can be detected using metabolomic profiling. Studies on the human dietary requirement for choline illustrate how useful these new approaches can be, as this requirement is influenced by SNPs in genes of choline and folate metabolism. In adults, these SNPs determine whether people develop fatty liver, liver damage and muscle damage when eating diets low in choline. Because choline is very important for fetal development, these SNPs may identify women who need to eat more choline during pregnancy. Some of the actions of choline are mediated by epigenetic mechanisms that permit ‘retuning’ of metabolic pathways during early life.
Eosinophil Granular Proteins Damage Bronchial Epithelial Cells Infected with Respiratory Syncytial Virus
Authors: Kato Masahiko , Ishioka Taisei , Kita Hirohito , Kozawa Kunihisa , Hayashi Yasuhide , Kimura Hirokazu
Published: May 2012

Background: Respiratory syncytial (RS) virus infection is an important exacerbating factor in acute bronchial asthma. However, the precise mechanisms responsible for viral infection-induced exacerbations of asthma are uncertain. To elucidate the role of eosinophilic inflammation in the pathogenesis of virus-induced asthma, we investigated the effects of eosinophil granule proteins on bronchial epithelial cell infected with RS virus. Methods: Morphological changes and cytopathic effects in human type II pulmonary alveolar epithelial cells (A549) infected with RS virus and/or eosinophil granule proteins such as major basic protein (MBP), eosinophil peroxidase (EPO), eosinophil cationic protein (ECP) and eosinophil-derived neurotoxin (EDN) were observed by microscopy. Apoptosis/necrosis was evaluated by trypan blue exclusion test. We also measured 8 types of phosphorylated proteins in MBP-treated A549 cells infected with RS virus. Results: Although RS virus alone did not affect the cytopathic effects of A549 cells, high concentrations of MBP or a combination of 4 granule proteins resulted in cytopathic effects. MBP or EPO, but not ECP or EDN, induced cytotoxicity and necrosis of the infected A549 cells. Furthermore, MBP induced the phosphorylation of the extracellular signal-regulated kinase (ERK) 1/2, p38 mitogen-activated protein kinase (MAPK), Jun-N-terminal protein kinase (JNK), and signal transducer and activator of transcription (STAT)3 in the infected cells. Conclusions: These results suggest that eosinophil granule proteins, specifically MBP, damage bronchial epithelial cells infected with RS virus and that the MAPK family are involved in these responses, indicating that eosinophilic inflammation might be associated with the pathophysiology of RS virus-induced acute exacerbations of asthma.
NFAT1 and NFAT2 Differentially Regulate IL-17A Expression in Human T Cells
Authors: Kaminuma Osamu , Kitamura Noriko , Mori Akio , Tatsumi Hideki , Nemoto Soichi , Hiroi Takachika
Published: May 2012

Background: The NFAT family transcription factors play crucial roles in T cell functions. Recently, NFAT has been implicated in the production of an inflammatory cytokine, IL-17A; however, functional differences among NFAT members in IL-17A synthesis have not been elucidated. In this study, the relative contribution of NFAT1 and NFAT2 to IL-17A expression in human T cells was investigated. Methods: NFAT1 and NFAT2 were introduced in human cord blood CD4+ T cells by a lentiviral transduction system. Then, the expression of IL-17A mRNA was determined by quantitative real-time RT-PCR. The transient effects of NFAT1 and NFAT2 on IL-17A expression in Jurkat-Tag cells were also investigated. Results: Stimulation-induced expression of IL-17A in human CD4+ T cells was augmented by the introduction of NFAT1 and more vigorously, NFAT2. IL-17A expression in Jurkat-Tag cells was also enhanced by NFAT1, whereas it was not affected by NFAT2. Conclusion: NFAT1 and NFAT2 facilitated IL-17A expression in human T cells, though distinct mechanisms might be involved in these effects.
Elevated Levels of Interleukin-33 in the Nasal Secretions of Patients with Allergic Rhinitis
Authors: Asaka Daiya , Yoshikawa Mamoru , Nakayama Tsuguhisa , Yoshimura Tsuyoshi , Moriyama Hiroshi , Otori Nobuyoshi
Published: May 2012

Background: Interleukin (IL)-33, which is a member of the IL-1 family of cytokines, is now recognized as an important contributor to Th2-type immune responses. We examined whether the levels of IL-33 in sera and nasal secretions are upregulated in allergic rhinitis (AR) patients, and we tested for correlations between the IL-33 level and the parameters of atopy and the nasal symptom score. Methods: The study included 24 Japanese cedar pollinosis patients (12 male and 12 female patients with a mean age of 47.7 years) with a history of moderate-to-severe AR, 14 house-dust-mite-sensitized patients with AR (9 male and 5 female patients with a mean age of 42 years) and 8 normal controls. We used Japan Rhinoconjunctivitis Quality-of-Life Questionnaire sheets to evaluate the nasal symptoms. We collected sera and nasal secretions to examine the level of IL-33 protein by ELISA. Results: IL-33 protein was not detected in the serum of any of the subjects. However, the IL-33 level in nasal secretions was significantly elevated in patients with Japanese cedar pollinosis at peak season and in patients with perennial AR compared to Japanese cedar pollinosis patients at preseason and the normal controls. Furthermore, IL-33 in nasal secretions correlated significantly with the total nasal symptom score. Conclusions: Our results suggest that IL-33 in nasal secretions may be related to exacerbation of AR, including that of Japanese cedar pollinosis cases.
Elevated Numbers of Cells Producing Interleukin-5 and Interleukin-10 in a Boy with Kimura Disease
Authors: Hosoki Koa , Hirayama Masahiro , Kephart Gail M. , Kita Hirohito , Nagao Mizuho , Uchizono Hiromasa , Toyoda Hidemi , Senba Yuko , Imai Yu , Komada Yoshihiro , Ihara Toshiaki , Fujisawa Takao
Published: May 2012

Kimura disease is a rare disorder of unknown etiology, characterized by the presence of benign subcutaneous granuloma, marked peripheral blood eosinophilia and elevation of the immunglobulin E (IgE) serum level. Here, we present a case of a 12-year-old boy with Kimura disease who had a history of repeated severe influenza virus A infection. Along with the characteristic histological findings of granuloma, including eosinophil infiltration, enzyme-linked immunospot assay showed elevated numbers of IL-5- and IL-10-producing cells in the peripheral blood. Immunohistochemical evaluation, however, did not detect IL-5 in the tissue. Possible cytokine dysregulation in Kimura disease was suggested, but the pathogenesis remains unclear.
Eosinophilic Gastroenteritis due to Cow’s Milk Allergy Presenting with Acute Pancreatitis
Authors: Suzuki Shintaro , Homma Tetsuya , Kurokawa Masatsugu , Matsukura Satoshi , Adachi Mitsuru , Wakabayashi Kuninobu , Nozu Fumihiko , Tazaki Toshiyuki , Kimura Teruaki , Matsuura Takayuki , Fukuda Mitsuru , Shiozawa Eisuke , Takimoto Masafumi
Published: May 2012

Eosinophilic gastroenteritis (EGE) is characterized by eosinophilic infiltration of the digestive organs, most commonly of the stomach and the duodenum. Symptoms of EGE are nonspecific and include nausea, vomiting, abdominal pain, dyspepsia, malabsorption, ascites and weight loss. The various symptoms of EGE depend on its location and the depth of gastrointestinal eosinophil infiltration. We report a case presenting with acute pancreatitis caused by a milk allergy. The patient’s symptoms rapidly improved after treatment with corticosteroids, and he remained symptom-free for more than 20 months by the elimination of cow’s milk from his diet. Serum titers of pancreatic enzymes and total bilirubin simultaneously recovered and blood eosinophil counts normalized. The causative allergens of EGE are too various to detect; however, allergologic exams revealed that a cow’s milk allergy had provoked EGE in our case. Adult-onset cow’s milk allergies are rare; when seen, however, they may present severe complications such as anaphylaxis, gastroenteritis and pancreatitis. When unaccountable gastrointestinal symptoms are observed, EGE caused by food allergies should be included in the differential diagnosis.
Obesity and Eosinophilic Inflammation: Does Leptin Play a Role
Authors: Takeda Masahide , Ueki Shigeharu , Kato Hikari , Konno Yasunori , Chihara Mami , Itoga Masamichi , Kobayashi Yoshiki , Moritoki Yuki , Ito Wataru , Kayaba Hiroyuki , Chihara Junichi
Published: May 2012

It has been pointed out that obesity is a risk factor for, and is involved in the exacerbation of asthma. Mounting evidence about adipose tissue-derived proteins (adipokines) gave rise to the current understanding of obesity as a systemic inflammatory disorder. In this review, we summarized the involvement of leptin, focusing on eosinophil functions. Several studies have indicated that leptin can restrain eosinophil apoptosis, enhance migration, increase adhesion molecules and induce cytokine production. Since leptin also acts on a variety of immune cells related to allergic response, increased leptin in obese individuals potentially explains the mechanism by which obesity leads to an exacerbation of asthma. Further studies targeting adipokines will delineate the association between obesity and eosinophil-associated diseases.
Critical Roles of IĸB Kinase Subunits in Mast Cell Degranulation
Authors: Nakagomi Daiki , Suzuki Kotaro , Nakajima Hiroshi
Published: May 2012

The IĸB kinase (IKK) complex plays a crucial role in the activation of the transcription factor NF-ĸB by phosphorylating an inhibitory molecule IĸBα. Recently, we showed that IKK2 (also called IKKβ), a catalytic subunit of the IKK complex, induces immunoglobulin E-mediated degranulation in mast cells by phosphorylating SNAP-23, the target-membrane soluble N-ethylmaleimide-sensitive fusion factor attachment protein receptor (SNARE). In addition to IKK2, a recent study has shown that ELKS, a regulatory subunit of the IKK complex, also induces the degranulation of rat basophilic leukemia cells. These findings indicate that the two subunits of the IKK complex, IKK2 and ELKS, function not only in NF-ĸB-dependent transcriptional activation but also in NF-ĸB-independent pathways. This review focuses on the functions of IKK2 and ELKS in mast cell degranulation.
Neutrophilic Inflammation in Severe Asthma
Authors: Nakagome Kazuyuki , Matsushita Sho , Nagata Makoto
Published: May 2012

Neutrophils may play an important role in the pathogenesis of severe asthma. Their infiltration into the airway is increased. Interleukin (IL)-8 is involved in this process, and is actually upregulated in the airways of patients. We have observed that in the absence of eosinophil chemoattractants, neutrophils stimulated by IL-8 augment eosinophil trans-basement membrane migration by releasing superoxide anion, matrix metalloproteinase, leukotriene B4 and platelet-activating factor. These findings suggest that IL-8-stimulated neutrophils could lead eosinophils to accumulate in the airways of asthmatic patients, which might be a mechanism for corticosteroid resistance in severe asthma. However, the mechanisms of IL-8 upregulation in the airway are not completely understood. Several studies suggest that IL-17 (or T helper 17 cells; Th17) is involved in the IL-8 upregulation observed in severe asthma. We clarified that dopamine induces Th17 differentiation through dopamine D1-like receptor (D1-like-R), and that the D1-like-R antagonist attenuates Th17-mediated diseases like experimental autoimmune encephalomyelitis. Furthermore, we demonstrated that a D1-like-R antagonist significantly suppressed ovalbumin (OVA)-induced neutrophilic airway inflammation in OVA T cell receptor-transgenic DO11.10 mice through inhibiting Th17-mediated immune responses. Therefore, dopamine D1-like-R antagonists could become useful for treating Th17-mediated neutrophil-dominant severe asthma. As inhaled corticosteroids are known to be less effective for controlling neutrophilic inflammation, a more effective therapeutic strategy for neutrophil-dominant asthma should still be elucidated.
Ophthalmic Features of Optic Disc Drusen
Authors: Flores-Rodríguez Patricia , Gili Pablo , Martín-Ríos María Dolores
Published: May 2012

Purpose: To evaluate the ophthalmoscopic manifestations of patients with visible and hidden optic disc drusen (ODD). Method: We studied 55 patients (100 eyes) with ODD that were confirmed using B-scan ultrasonography and a control group of 60 patients (100 eyes) for differential diagnosis. We analysed the optic nerve features with stereoscopic photography and compared the characteristics between visible and hidden ODD and between hidden ODD and papilloedema. Results: The patients with ODD presented the following ophthalmoscopic features: visible drusen (52%), blurred edges (84%), raised optic disc (74%), absence of optic disc cupping (69%), absence of venous pulse (54%), abnormal vascular branching (81%), presence of cilioretinal vessels (42%), peripapillary atrophy (56%) and haemorrhages (2%). Comparison of the qualitative characteristics of the papillae of the eyes with visible and hidden ODD showed statistically significant differences in all parameters studied, except for morphological alterations (p = 0.851) and haemorrhage (p = 0.954). Comparison of hidden ODD with papilloedema showed statistically significant differences in blurred edges, disc elevation, absence of optic disc cupping, altered colour, anomalous vascular branching and optic disc haemorrhages (p < 0.005). Conclusions: Ophthalmologic features associated with ODD can help us to diagnose their presence and avoid confusing them with papilloedema.
Concepts on Childhood Microcrania: A Clinical Overview for the Neurosurgeon Who Is Evaluating a Child with a Small Head
Authors: James Hector E. , Perszyk Anthony
Published: May 2012

Purpose: Infants and children with microcrania are referred to pediatric neurosurgeons for evaluation and treatment of possible craniosynostosis and other disorders. We present an approach to these children to facilitate the appropriate clinical evaluation and management. Methods: We reviewed our experience and the literature on infants and children with microcephaly, and developed a management strategy for these children when seen in the University of Florida Division of Pediatric Neurosurgery. Results: We request the same sex parent to accompany the child for their consultation. If the head circumference of the child matches that of the same sex parent in percentiles, and there are no other abnormalities, no further assessment or studies are performed. If there is a disproportionate head size to that of the same sex parent and/or other structural abnormalities are present, the child is referred to clinical genetics for further assessment. Conclusions: When patients are referred to pediatric neurosurgery for microcrania, their head size should be compared to that of the same sex parent. This will facilitate the diagnosis of familial microcephaly, and if no other abnormalities are noted, no further studies or surgical interventions are necessary.
Hyperglycemia and Renal Mass Ablation Synergistically Augment Albuminuria in the Diabetic Subtotally Nephrectomized Rat: Implications for Modeling Diabetic Nephropathy
Authors: Chen Li-Hao , Stead Bailey , Advani Suzanne L. , Yaqoob Noreen , Thai Kerri , Kabir M. Golam , Yuen Darren A. , Connelly Kim A. , Gilbert Richard E. , Advani Andrew
Published: May 2012

Background/Aims: While experimental models that emulate diabetic nephropathy are valuable tools for elucidating pathogenetic mechanisms and developing novel therapies, existing models imperfectly recapitulate human disease. In diabetes, hyperglycemia and hemodynamic forces act in concert to induce renal injury. Accordingly, in the present study, we combined streptozotocin-induced diabetes with surgical ablation of 5/6 of the kidney mass with the aim of evaluating their additive effects on renal function and glomerular morphology. Methods: Female F344 rats were randomized to undergo subtotal nephrectomy (SNx) either at baseline or following 4 weeks of diabetes. Results: In comparison to sham rats, rats with diabetes or rats after SNx surgery, diabetic subtotally nephrectomized (DM-SNx) rats demonstrated an increase in systolic blood pressure, glomerular volume and mesangial matrix. Albuminuria was synergistically increased by hyperglycemia and renal mass ablation associated with decreased nephrin expression. In contrast, glomerular capillary rarefaction and glomerular filtration rate were similarly reduced in SNx and DM-SNx rats. Conclusion: The DM-SNx rat recapitulates some of the features of human disease, most notably augmented albuminuria. Since this model avoids the deletion or overexpression of gene(s) linked to the pathogenesis of nephropathy, the DM-SNx rat model represents a complementary tool for the trial of novel therapies.
Mutations of the AMH Type II Receptor in Two Extended Families with Persistent Müllerian Duct Syndrome: Lack of Phenotype/Genotype Correlation
Authors: Abduljabbar Mohammad , Taheini Khalid , Picard Jean-Yves , Cate Richard L. , Josso Nathalie
Published: May 2012

Our goal was to compare phenotype and genotype in two extended Middle-Eastern families affected by persistent Müllerian duct syndrome due to mutations of the type II anti-Müllerian hormone receptor (AMHR-II). The first, consanguineous, family consisted of 6 boys and 2 girls, the second consisted of 4 girls and 2 boys. In family I, 4 boys and 1 girl were homozygous for a stop mutation in the 9th exon of AMHR-II, removing part of the intracellular domain of the protein. In family II, 1 girl and 1 boy were homozygous for a transversion changing conserved histidine 254 into a glutamine. Both homozygous girls were normal. In the homozygous males, the degree of development of Müllerian derivatives was variable. The uterus was well developed in 2 boys of family I and in the patient from family II; however, in 1 subject from family I, Müllerian derivatives were undetectable. Taken together, the diversity of clinical symptoms within the same sibship and the lack of correlation between the development of the Müllerian derivatives and the severity of the molecular defects suggest highly variable penetrance of the abnormal alleles and/or the existence of other genetic or epigenetic modifiers of gene expression.
Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features
Authors: Mancini T.I. , Oliveira M.M. , Dutra A.R.N. , Perez A.B.A. , Minillo R.M. , Takeno S.S. , Melaragno M.I.
Published: May 2012

We present a 2-year-old boy with a de novo 46,XY,idic(Y)(q11.221),del(4)(q26q31.1) karyotype. G-banding, FISH, MLPA, and SNP-array techniques were used to characterize the 24-Mb deletion in 4q and the breakpoint in the isodicentric Y-chromosome region between 15,982,252 and 15,989,842 bp. The patient presented with mild facial dysmorphism, hemangioma, mild frontal cerebral atrophy, and Dandy-Walker variant. Essentially, this case reveals that patients can present more complex genomic imbalances than initially suspected.
Speech Performance and Sound Localization Abilities in Neurelec Digisonic® SP Binaural Cochlear Implant Users
Authors: Verhaert Nicolas , Lazard Diane S. , Gnansia Dan , Bébéar Jean-Pierre , Romanet Philippe , Meyer Bernard , Péan Vincent , Mollard Dominique , Truy Eric
Published: May 2012

In this prospective study the outcome of the Digisonic® SP Binaural cochlear implant (CI), a device enabling electric stimulation of both cochleae by a single receiver, was evaluated in 14 postlingually deafened adults after 12 months of use. Speech perception was tested using French disyllabic words in quiet and in speech-shaped noise at +10 dB signal-to-noise ratio. Horizontal sound localization in quiet was tested using pink noise coming from 5 loudspeakers, from –90 to +90° along the azimuth. Speech scores in quiet were 76% (±19.5 SD) in the bilateral condition, 62% (±24 SD) for the better ear alone and 43.5% (±27 SD) for the poorer ear alone. Speech scores in noise were 60% (±27.5 SD), 46% (±28 SD) and 28% (±25 SD), respectively, in the same conditions. Statistical analysis showed a significant advantage of the bilateral use in quiet and in noise (p < 0.05 compared to the better ear). Significant spatial perception benefits such as summation effect (p < 0.05), head shadow effect (p < 0.0001) and squelch effect (p < 0.0005) were noted. Sound localization accuracy improved significantly when using the device in the bilateral condition with an average root mean square of 35°. Compared with published outcomes of usual bilateral cochlear implantation, this device could be a valuable alternative to two CIs. Prospective controlled trials, comparing the Digisonic SP Binaural CI with a standard bilateral cochlear implantation are mandatory to evaluate their respective advantages and cost-effectiveness.
Implications of Peripheral Muscular and Anatomical Development for the Acquisition of Lingual Control for Speech Production: A Review
Authors: Denny Margaret , McGowan Richard S.
Published: May 2012

Objectives: Normally developing children learn to produce intelligible speech during rapid, non-uniform growth of their articulators and other vocal tract structures. The purpose of this review is to focus attention on the consequences of peripheral growth and development for the acquisition of lingual control for speech production. This paper (1) reviews physiological underpinnings of tongue shaping and movements that are likely to be changing in young children; (2) estimates, from previously published studies, the net consequences of growth of multiple vocal tract structures on lingual control; (3) integrates our findings with the example of [R] production, and (4) highlights areas where further investigations would be most helpful. Patients and Methods: The authors searched the literature, including the PubMed database, for studies of the development of muscle proteins, muscle fibers, and motor units of the tongue, and of the growth of the tongue, jaw, adenoids, soft and hard palates, oral and pharyngeal cavities, and the vocal tract as a whole. Conclusions: Substantial anatomical and muscular data sets focused on children from 1–4 years of age, and rigorous definitions of the tongue boundaries are needed.
A High-Fidelity Orchestra Simulator for Individual Musicians’ Practice
Authors: Olmos Adriana , Bouillot Nicolas , Knight Trevor , Mabire Nordhal , Redel Josh , Cooperstock Jeremy R.
Published: May 2012

We developed the Open Orchestra system to provide individual musicians with a high-fidelity experience of ensemble rehearsal or performance, combined with the convenience and flexibility of solo study. This builds on the theme of an immersive orchestral simulator that also supports the pedagogical objective of instructor feedback on individual recordings, as needed to improve one's performance. Unlike previous systems intended for musical rehearsal, Open Orchestra attempts to offer both an auditory and a visual representation of the rest of the orchestra, spatially rendered from the perspective of the practicing musician. We review the objectives and architecture of our system, describe the functions of our digital music stand, discuss the challenges of generating the media content needed for this system, and describe provisions for offering feedback during rehearsal.
Children in Deuteronomy: The Partisan Nature of Divine Justice
Authors: Murphy A. James
Published: May 2012

It is sometimes argued that the god of Israel has a universal concern for children. Like adults, they are made in his image. Abortion and exposure seem relatively unattested in ancient Israel and the law forbade parents from passing their children “through the fire” (Deut. 18:10). Children are among the most vulnerable in the ancient world and, like the poor, the widow and orphan, God's justice displays particular concern for their care. Using theories of childhood development, this paper proposes perspectives of children on how divine justice affects children in Deuteronomy. This paper argues that for children in Deuteronomy, the god of Israel can be a source of protection and sustenance for some, while a source of terror and death for others. Concern for children is not universal. Deut. 6:7 and 6:20-25 stipulate that Israelite parents nurture and educate their children in the law, ensuring their protection and sustenance in the land God gifted them. By contrast, for children in Deut. 20:14 the god of Israel means terror, sanctioning the destruction of their households and their enslavement. The children in Deut. 20:16-17 receive no mention. They are collateral damage in the laws of Deuteronomy.
Revision of the extinct Pleistocene tortoise Testudo lunellensis Almera and Bofill, 1903 from Cova de Gràcia (Barcelona, Spain)
Authors: Delfino Massimo , Luján Àngel H. , Carmona Raül , Alba David M.
Published: May 2012

Testudo lunellensisAlmera and Bofill, 1903 from the Middle Pleistocene of Cova de Gràcia (Park Güell, Barcelona, Spain) is a valid species belonging to the clade of the extantTestudo hermanni– a diagnostic feature being the narrowed vertebral scutes. Thanks to still unpublished material,T. lunellensisis diagnosed for the first time and its shell morphology described in detail. This species is uniquely characterized, among others, by tall peripheral bones and by a peculiar shape of the anterior lobe of the plastron, somewhat recalling the species referred toTestudos.s. (the clade containing the extant speciesTestudo graeca,Testudo kleinmanniandTestudo marginata). Given that the purported valid species from Lunel-Viel (Middle Pleistocene, France) is still unnamed and undescribed,T. lunellensisfrom Cova de Gràcia is currently the stratigraphically youngest extinctTestudospecies. The co-occurrence inT.lunellensisof characters typical of bothT. hermanniandTestudos.s. further testifies the phenotypic plasticity of tortoises and the mosaic distribution of morphological characters, which hinders a clear-cut assessment of the relationships of extant tortoises when based exclusively on morphology. Further analyses of the phylogeny ofTestudoshould consider fossil and extant taxa together, as well as both morphological and genetic characters.
An Internalist Dilemma—and an Externalist Solution
Authors: Strandberg Caj
Published: May 2012

In this paper, I argue that internalism about moral judgments and motivation faces a dilemma. On the one hand, a strong version of internalism is able to explain our notion of the connection between moral language and motivation, but fails to account for the possibility that people who suffer from certain mental conditions need not be accordingly motivated. On the other hand, a weaker form of internalism avoids this difficulty, but fails to explain our notion of the connection between moral judgments and motivation. Moreover, I argue that externalism in conjunction with a pragmatic claim that employs Grice’s concept of generalized conversational implicature is able to account for both these considerations and that it consequently avoids the dilemma. Thus, there is reason to think that this view is preferable to internalism.
Must Metaethical Realism Make a Semantic Claim?
Authors: Kahane Guy
Published: May 2012

Mackie drew attention to the distinct semantic and metaphysical claims made by metaethical realists, arguing that although our evaluative discourse is cognitive and objective, there are no objective evaluative facts. This distinction, however, also opens up a reverse possibility: that our evaluative discourse is antirealist, yet objective values do exist. I suggest that this seemingly far-fetched possibility merits serious attention; realism seems committed to its intelligibility, and, despite appearances, it isn’t incoherent, ineffable, inherently implausible or impossible to defend. I argue that reflection on this possibility should lead us to revise our understanding of the debate between realists and antirealists. It is not only that the realist’s semantic claim is insufficient for realism to be true, as Mackie argued; it’s not even necessary. Robust metaethical realism is best understood as making a purely metaphysical claim. It is thus not enough for antirealists to show that our discourse is antirealist. They must directly attack the realist’s metaphysical claim.
Normative Consent and Authority
Authors: Koltonski Daniel
Published: May 2012

In his recent book Democratic Authority, David Estlund defends a strikingly new and interesting account of political authority, one that makes use of a distinctive kind of hypothetical consent that he calls ‘normative consent’: a person can come to have a duty to obey another when it is the case that, were she given the chance to consent to the duty, she would have a duty to consent to it. If successful, Estlund’s account promises to provide what has arguably so far remained elusive: the basis for the authority of suitably democratic laws. In this paper, I argue that, despite its promise, the account Estlund develops is, in a crucial respect, incoherent: the principle of normative consent that he offers relies on a claim about a hypothetical situation, but the hypothetical situation at issue is one that, according to the principle itself, is morally impossible.
Scanlon on Responsibility and the Value of Choice
Authors: Olsaretti Serena
Published: May 2012

This paper examines Thomas Scanlon’s Value of Choice account of substantive responsibility, on which the fact that choice has value accounts both for why people should be provided with certain opportunities and for why it may be permissible, in those cases, to let people bear certain opportunity-accompanying burdens. Scanlon contrasts his view with the familiar one (which he calls the Forfeiture View) according to which it is permissible to require people to bear certain burdens if and only if they have actively chosen those burdens, because of the legitimating force of choice. The paper argues that Scanlon’s account, in its most distinctive version, is at best incomplete and can only justify claims about responsibility for a restricted class of burdens. It then goes on to suggest that, when Scanlon’s account is supplemented so as to be able to generate judgments of responsibility about a wider range of burdens, it is no longer clear that there is a difference between the Value of Choice account and a plausible version of the Forfeiture View.
Agents, Impartiality, and the Priority of Claims over Duties: Diagnosing Why Thomson Still Gets the Trolley Problem Wrong by Appeal to the “Mechanics of Claims”
Authors: Walen Alec , Wasserman David
Published: May 2012

Judith Jarvis Thomson recently argued that it is impermissible for a bystander to turn a runaway trolley from five onto one. But she also argues that a trolley driver is required to do just that. We believe that her argument is flawed in three important ways. She fails to give proper weight to (a) an agent¹s claims not to be required to act in ways he does not want to, (b) impartiality in the weighing of competing patient-claims, and (c) the role of patient-claims in determining agent-duties. All three of these failures can be understood in terms of what we call the Mechanics of Claims, an approach we develop for identifying and balancing competing claims in determining rights. Using that framework, one can see both why Thomson’s most recent argument is mistaken, and how to think more clearly about deontological choices generally.
Spanish secondary students' willingness to undertake specific actions to combat global warming: Can environmental education help?
Authors: Rodríguez Manuel , Boyes Edward , Stanisstreet Martin
Published: May 2012

Previous studies have demonstrated a ‘gap’ between overall environmental knowledge and general pro-environmental behaviour. Here, we explore the relationships between school students’ intention to take specific pro-environmental actions (their Degree of Willingness to Act) and their belief in the usefulness of those particular actions in combating global warming (their Believed Usefulness of Action). For each action there is a Natural Willingness to Act—an intention to undertake the action even if it is not believed to be particularly effective—and a Natural Reluctance to Act—a disinclination to undertake that action even if it is believed to be highly effective. For those actions with a low Natural Willingness to Act combined with a low Natural Reluctance to Act, there is a strong relationship between belief in the usefulness of the action and an intention to act. Here, environmental education is likely to be effective in terms of modifying behaviour.
Emotional correlates of instrumental and symbolic functions in urban transport
Authors: Sevillano Verónica , López-Sáez Mercedes , Mayordomo Sonia , Moorby Anna
Published: May 2012

Psychological research into the functions of different modes of transport has identified three main functions: instrumental, symbolic, and affective. However, no consensus has been reached regarding the relationship between them. Results from six focus groups show that emotional consequences are associated with both instrumental and symbolic functions of different modes of transport. Instrumental characteristics implying positive and negative emotions are temporality (journey time) and versatility (availability of use), mainly. Emotionally-charged symbolic characteristics are linked to self-expression (expression of identity) and social categorization (status and prestige). Implications for the functional structuring of different modes of transport are discussed
Intención de los estudiantes españoles de secundaria de llevar a cabo acciones específicas para luchar contra el calentamiento global: ¿puede ayudar la educación ambiental?
Authors: Rodríguez Manuel , Boyes Edward , Stanisstreet Martin , del Río Miguel
Published: May 2012

Las investigaciones previas han demostrado que existe una “brecha” entre el conocimiento ambiental general y el comportamiento proambiental. En este artículo estudiamos las relaciones entre la intención de los estudiantes de realizar determinadas acciones para combatir el calentamiento global (Grado de Intención de Actuar, Degree of Willingness to Act) y su creencia en la eficacia de cada una de esas acciones concretas (Creencia en la Eficacia de la Acción, Believed Usefulness of Action). Vara cada acción podemos hablar de una Intención Natural de Actuar o Natural Willingness to Act— intención de realizar dicha acción aún cuando se cree que no es especialmente efectiva—, así como de una Resistencia Natural a la Acción o Natural Reluctance to Act— rechazo a realizar la acción incluso cuando se considera muy efectiva—. Vara aquellas acciones cuya Intención Natural de Actuar sea baja y su Resistencia Natural a la Acción también sea baja, existirá una fuerte relación entre la creencia en la eficacia de esa acción y la intención de realizarla. En esos casos la educación ambiental puede ser más efectiva de cara a la modificación del comportamiento.
The psychological meaning of preservation and utilization attitudes: A study using the natural semantic network technique
Authors: Milfont Taciano L.
Published: May 2012

Environmental attitudes (EA) are a psychological tendency to evaluate the natural environment with some degree of favour or disfavour. Recent studies have quantitatively assessed the dimensionality of the higher order level structure of EA, proposing either a single, generalized higher order factor or two higher order factors, labelled Preservation and Utilization. This article presents a qualitative study addressing whether people are able to distinguish between Preservation and Utilization attitudes. Qualitative data from participants from 16 countries across all six inhabited continents were gathered using the Natural Semantic Network Technique, which involves asking participants to elicit definers for ‘environmental preservation’ and ‘environmental utilization’ and then applying weights that rank the importance of each definer. Although inconclusive, findings indicate that the psychological meaning of Preservation and Utilization attitudes is fairly distinct, providing qualitative support for the two factors model of the higher order structure of EA.
Predictores del comportamiento de reciclaje en alumnos de educación primaria en México
Authors: Juárez-Lugo Carlos-Saúl
Published: May 2012

Esta investigación evalúa el comportamiento de reciclaje de 1040 alumnos de tercer y sexto año de educación primaria a través de la medición de tres variables predictoras: conocimiento, actitud y habilidad ambientales. El propósito de este estudio consiste en comparar las características del comportamiento de reciclaje en los alumnos que cursan ambos grados, así como identificar la influencia específica de las tres variables predictoras en la conducta de reciclaje de los alumnos. Se encontró que los alumnos de sexto grado tuvieron un mayor número de respuestas correctas en la variable conocimiento y habilidad siendo estadísticamente significativa la diferencia con tercero (α =.001). No así en la variable actitud, en el que los alumnos de tercer grado, en particular las mujeres, mostraron una mayor disposición a cuidar el ambiente. La conducta de reciclaje tiene una influencia principalmente de las variables conocimiento y habilidades seguida por la actitud ambiental.
Squall Lines and Convectively Coupled Gravity Waves in the Tropics: Why Do Most Cloud Systems Propagate Westward?
Authors: Tulich Stefan N. , Kiladis George N.
Published: May 2012

The coupling between tropical convection and zonally propagating gravity waves is assessed through Fourier analysis of high-resolution (3-hourly, 0.5°) satellite rainfall data. Results show the familiar enhancement in power along the dispersion curves of equatorially trapped inertia–gravity waves with implied equivalent depths in the range 15–40 m (i.e., pure gravity wave speeds in the range 12–20 m s−1). Here, such wave signals are seen to extend all the way down to zonal wavelengths of around 500 km and periods of around 8 h, suggesting that convection–wave coupling may be important even in the context of mesoscale squall lines. This idea is supported by an objective wave-tracking algorithm, which shows that many previously studied squall lines, in addition to “2-day waves,” can be classified as convectively coupled inertia–gravity waves with the dispersion properties of shallow-water gravity waves. Most of these disturbances propagate westward at speeds faster than the background flow. To understand why, the Weather Research and Forecast (WRF) Model is used to perform some near-cloud-resolving simulations of convection on an equatorial beta plane. Results indicate that low-level easterly shear of the background zonal flow, as opposed to steering by any mean flow, is essential for explaining the observed westward-propagation bias.