bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus)
Authors: Yamasaki Mami , Nonaka Masahiro , Suzumori Nobuhiro , Nakamura Hiroaki , Fujita Hiroshi , Namba Akira , Kamei Yoshimasa , Yamada Takahiro , Pooh Ritsuko K. , Tanemura Mitsuyo , Sudo Norihito , Nagasaka Masato , Yoshioka Ema , Shofuda Tomoko , Kanemura Yonehiro 
Published: September 2011

Object
The aim of this study was to evaluate the feasibility of prenatal L1CAM gene testing for X-linked hydrocephalus (XLH).

Methods
In a nationwide study conducted in Japan between 1999 and 2009, the authors identified 51 different L1CAM gene mutations in 56 families with XLH. Of these 56 families, 9 obligate carriers requested prenatal gene mutation analysis for the fetal L1CAM gene in 14 pregnancies.

Results
In 2004, new clinical guidelines for genetic testing were established by 10 Japanese genetic medicine–related societies. These guidelines stated that the genetic testing of carriers should be done only with their consent and with genetic counseling. Therefore, because females are carriers, since 2004, L1CAM gene analysis has not been performed for female fetuses. The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 female (prior to 2004) and 4 male fetuses. Of the 7 fetuses, 3 (1 male and 2 female) carried L1CAM mutations. Of these 3, 1 pregnancy (the male fetus) was terminated; in the other cases, the pregnancies continued, and 3 female and 3 male babies without the XLH phenotype were born.

Conclusions
Prenatal L1CAM gene testing combined with genetic counseling was beneficial for families carrying L1CAM mutations.
Father of neurosurgery: Harvey Cushing's early experience with a pediatric brainstem glioma at the Johns Hopkins Hospital
Authors: Dmetrichuk Jennifer M. , Pendleton Courtney , Jallo George I. , Quiñones-Hinojosa Alfredo 
Published: September 2011

Object
The early 20th century posed several challenges in the diagnosis and surgical treatment of intracranial tumors. However, this was a time in which more information was becoming more readily available based on pathological examination and surgical case reports. Such early work was crucial in shaping the current understanding of the nervous system and in developing modern treatment strategies. An early historical overview of the diagnosis and surgical interventions in pediatric patients with brainstem gliomas has not been described. Furthermore, Dr. Harvey Cushing's contributions to this field have not been reported.

Methods
Following institutional review board approval, and through the courtesy of the Alan Mason Chesney Archives, the authors reviewed the Johns Hopkins Hospital surgical files dating from 1896 to 1912.

Results
The authors describe Cushing's early experience with a pediatric brainstem glioma during his time as a young attending physician at the Johns Hopkins Hospital. The case, presented in 1909, described the clinical events in a 15-year-old schoolgirl who presented with signs of a cerebellopontine lesion. A suboccipital exploration was performed by Cushing; his findings and surgical approach are described.

Conclusions
Harvey Cushing's early contributions to the field of pediatric neurosurgery, and to the operative treatment of pediatric brainstem gliomas have remained largely unknown. The case presented here represents the early work of the American “Father of Neurosurgery.”
Outcomes of Gamma Knife surgery for trigeminal neuralgia secondary to vertebrobasilar ectasia
Authors: Park Kyung-Jae , Kondziolka Douglas , Kano Hideyuki , Berkowitz Oren , Ahmed Safee Faraz , Liu Xiaomin , Niranjan Ajay , Flickinger John C. , Lunsford L. Dade 
Published: September 2011

Object
Vertebrobasilar ectasia (VBE) is an unusual cause of trigeminal neuralgia (TN). The surgical options for patients with medically refractory pain include percutaneous or microsurgical rhizotomy and microvascular decompression (MVD). All such procedures can be technically challenging. This report evaluates the response to a minimally invasive procedure, Gamma Knife surgery (GKS), in patients with TN associated with severe vascular compression caused by VBE.

Methods
Twenty patients underwent GKS for medically refractory TN associated with VBE. The median patient age was 74 years (range 48–95 years). Prior surgical procedures had failed in 11 patients (55%). In 9 patients (45%), GKS was the first procedure they had undergone. The median target dose for GKS was 80 Gy (range 75–85 Gy). The median follow-up was 29 months (range 8–123 months) after GKS. The treatment outcomes were compared with 80 case-matched controls who underwent GKS for TN not associated with VBE.

Results
Intraoperative MR imaging or CT scanning revealed VBE that deformed the brainstem in 50% of patients. The trigeminal nerve was displaced in cephalad or lateral planes in 60%. In 4 patients (20%), the authors could identify only the distal cisternal component of the trigeminal nerve as it entered into the Meckel cave.
After GKS, 15 patients (75%) achieved initial pain relief that was adequate or better, with or without medication (Barrow Neurological Institute [BNI] pain scale, Grades I–IIIb). The median time until pain relief was 5 weeks (range 1 day–6 months). Twelve patients (60%) with initial pain relief reported recurrent pain between 3 and 43 months after GKS (median 12 months). Pain relief was maintained in 53% at 1 year, 38% at 2 years, and 10% at 5 years. Some degree of facial sensory dysfunction occurred in 10% of patients. Eventually, 14 (70%) of the 20 patients underwent an additional surgical procedure including repeat GKS, percutaneous procedure, or MVD at a median of 14 months (range 5–50 months) after the initial GKS. At the last follow-up, 15 patients (75%) had satisfactory pain control (BNI Grades I–IIIb), but 5 patients (25%) continued to have unsatisfactory pain control (BNI Grade IV or V). Compared with patients without VBE, patients with VBE were much less likely to have initial (p = 0.025) or lasting (p = 0.006) pain relief.

Conclusions
Pain control rates of GKS in patients with TN associated with VBE were inferior to those of patients without VBE. Multimodality surgical or medical management strategies were required in most patients with VBE.
Unexpectedly high levels of parasitism of wheat stem sawfly larvae in postcutting diapause chambers
Authors: Rand Tatyana A. , Waters Debra K. , Shanower Thomas G. 
Published: September 2011

AbstractWe examined rates of late-season parasitism of larvae of the wheat stem sawfly, Cephus cinctus Norton (Hymenoptera: Cephidae), by native species of Bracon F. (Hymenoptera: Braconidae) over 8 years in Montana and North Dakota, United States of America. We found that rates of parasitism of larvae in diapause chambers reached a maximum of 46%, exceeding the previously reported maximum of 2.5% in 75% of sites and years examined. In contrast to previous work, our results demonstrate that C. cinctus larvae are suitable hosts for braconid parasitoids, even after the formation of diapause chambers, and suggest that parasitism rates may be underestimated if stems are sampled prior to harvest.
Sampling Tribolium confusum and Tribolium castaneum in mill and laboratory settings: differences between strains and species
Authors: Hawkin Karen J. , Stanbridge Dean M. , Fields Paul G. 
Published: September 2011

AbstractThe efficacy of pitfall traps baited with pheromone and cereal oil in capturing Tribolium confusum Jacquelin du Val and T. castaneum (Herbst) (Coleoptera: Tenebrionidae) was low (trap catch) in mill and simulated warehouse settings. In a simulated warehouse experiment, strains of Tribolium Macleay recently taken from mills were caught 24% less often in traps than were laboratory strains, and T. confusum was caught 40% less often than T. castaneum. Both species were found together in all flour samples taken from a Canadian flour mill. A comparison of the species ratio in flour samples with that found in traps revealed that T. confusum was caught less often in traps than was T. castaneum. In flour, T. castaneum burrowed more than did T. confusum, and there were differences in burrowing behaviour between the four T. castaneum strains. Mills infested with T. confusum may have higher levels of infestation than was previously thought, indicating that further research into beetle behaviour in mills is needed.
Aneurysmal Bone Cyst of the Paranasal Sinuses: A Rare Entity
Authors: Kakkar Nandita , Yadav Jagveer Singh , Gupta Ashok K 
Published: September 2011

ABSTRACT
Aneurysmal bone cysts are vascular tumors that cause expansion and erosion of bone. We present this rare entity involving maxillary, ethmoid and frontal sinuses along with orbit. Computed tomography and histopathology showed typical features of aneurysmal bone cyst. We discuss clinical, radiological and histological details along with endoscopic management and literature review. The rarity of tumor makes this case interesting for head and neck surgeons.
Mutton in Nasopharynx in a Toddler
Authors: Singh Ishwar , Ranga Rupender K , Singh Jagat , Yadav SPS 
Published: September 2011

ABSTRACT
Foreign body in the nasopharynx is very uncommon. Authors report a curious case of mutton piece in a 2-year-old child which got lodged consequent to removal try by the mother. The child presented with foul smell, bilateral nasal obstruction and mouth breathing. Mutton piece was removed by nasal endoscopy.
Electrocardiographic consequences of cardiac iron overload in thalassemia major
Authors: Detterich Jon , Noetzli Leila , Dorey Fred , Bar‐Cohen Yaniv , Harmatz Paul , Coates Thomas , Wood John 
Published: September 2011

AbstractIron cardiomyopathy is a leading cause of death in transfusion‐dependent thalassemia major (TM) patients and MRI (T2*) can recognize preclinical cardiac iron overload, but, is unavailable to many centers. We evaluated the ability of 12‐lead electrocardiography to predict cardiac iron loading in TM. 12‐lead electrocardiogram and cardiac T2* measurements were performed prospectively, with a detectable cardiac iron cutoff of T2*less than 20 ms. Patients with and without cardiac iron were compared using two‐sample statistics and against population norms using age and gender‐matched Z‐scores. 45/78 patients had detectable cardiac iron. Patients having cardiac iron were older and more likely female but had comparable liver iron burdens and serum ferritin. Increased heart rate (HR) and prolonged corrected QT interval (QTc) were present, regardless of cardiac iron status. Repolarization abnormalities were the strongest predictors of cardiac iron, including QT/QTc prolongation, left shift of T‐wave axis, and interpretation of ST/T‐wave morphology. Recursive partitioning of the data for females using T‐axis and HR and for males using QT, HR, and T‐axis produced algorithms with AUROC's of 88.3 and 87.1, respectively. Bradycardia and repolarization abnormalities on 12‐lead electrocardiography were the most specific markers for cardiac iron in thalassemia major. Changes in these variables may be helpful to stratify cardiac risk when cardiac MRI is unavailable. However, diagnostic algorithms need to be vetted on larger and more diverse patient populations and longitudinal studies are necessary to determine reversibility of the observed abnormalities. Am. J. Hematol., 2011. © 2011 Wiley‐Liss, Inc.
Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?
Authors: Barber John C.K. , Huang Shuwen , Bateman Mark S. , Collins Amanda L. 
Published: September 2011

AbstractThe central portion of the short arm of chromosome 5 is unusual in that large, cytogenetically visible interstitial deletions segregate in families with and without phenotypic consequences. Here we present a family in which a transmitted interstitial deletion of 5p13.3 to 5p14.3 co‐segregated with learning and/or behavioral difficulties in six family members. Facial dysmorphism was not striking but a father and daughter both had lacrimal fistulae. The deletion was 12.23 Mb in size (chr5:20,352,535–32,825,775) and contained fifteen known protein coding genes. Five of these (GOLPH3; MTMR12; ZFR; SUB1; and NPR3) and an ultra‐conserved microRNA (hsa‐miR‐579) were present in an 883 kb candidate gene region in 5p13.3 that was deleted in the present family but not in previously reported overlapping benign deletions. Members of the cadherin precursor gene cluster, with brain specific expression, were deleted in both affected and benign deletion families. The candidate genes in 5p13.3 may be sufficient to account for the consistent presence or absence of phenotype in medial 5p deletions. However, we consider the possibility of position effects in which CDH6, and/or other cadherin genes, become penetrant when adjacent genes, or modifiers of gene expression, are also deleted. This could account for the absence of intellectual disability in benign deletions of the cadherin cluster, the cognitive phenotype in medial 5p deletion syndrome and the greater severity of intellectual disability in patients with cri‐du‐chat syndrome and deletions of 5p15 that extend into the region deleted in the present family. © 2011 Wiley Periodicals, Inc.
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications
Authors: Giorda Roberto , Beri Silvana , Bonaglia M. Clara , Spaccini Luigina , Scelsa Barbara , Manolakos Emmanouil , Mina Erika Della , Ciccone Roberto , Zuffardi Orsetta 
Published: September 2011

AbstractRare intrachromosomal triplications producing partial tetrasomies have been reported for a number of chromosomes. A detailed molecular characterization, necessary to define the mechanism of their formation, has so far been lacking. We report on the detailed clinical, cytogenetic, and molecular characterization of two triplications, one de novo involving chromosome 18q, the other familial on chromosome Xp. The clinical phenotype of the patient with 18q triplication, very likely due to overexpression of one or more of the genes in the region, consists mainly of facial dysmorphisms and developmental delay. The familial Xp triplication does not cause an increase in the number of copies of any gene and is almost certainly a polymorphism. The rearrangements are actually complex duplications/triplications. In both patients, their proximal breakpoints are located within complex segmental duplications, one containing the VCX gene cluster on chromosome Xp, the other the TCEB3 genes on chromosome 18q. A proximal duplicated region is also present in both patients. All junctions we analyzed were formed by non‐homologous end joining (NHEJ). The structural features shared between our patients suggest the involvement of a common mechanism in the genesis of interstitial intrachromosomal triplications. © 2011 Wiley Periodicals, Inc.
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes
Authors: Sarri Catherine , Douzgou Sofia , Gyftodimou Yolanda , Tümer Zeynep , Ravn Kirstine , Pasparaki Angela , Sarafidou Theologia , Kontos Harry , Kokotas Haris , Karadima Georgia , Grigoriadou Maria , Pandelia Effie , Theodorou Virginia , Moschonas Nicholas K. , Petersen Michael B. 
Published: September 2011

AbstractWe report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non‐acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non‐acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4 Mb deletion on the long arm of chromosome 10, approximately 145 kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64 Mb 10q26.11–q26.2 duplication, a 1.3 Mb region with no copy number change, followed by a 5.62 Mb 10q26.2–q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15‐year follow‐up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes. © 2011 Wiley Periodicals, Inc.
Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
Authors: Said Edith , Soler Doriette , Sewry Caroline 
Published: September 2011

AbstractSince its first description by Vici et al. [1988], further reports have continued to broaden the clinical phenotype of this rare multisystem disorder. Main features of agenesis of corpus callosum (ACC), hypopigmentation, immunodeficiency/recurrent infections, cataracts, severe failure to thrive, and profound psychomotor delay have been reported in all cases. An additional feature is the recent evidence for neuromuscular involvement. We describe a female infant with the above core features in whom an initial rapid neurological deterioration and associated transient left ventricular hypertrophy and liver dysfunction was followed by relative clinical stability after ten months of age. This case further underlines the clinical phenotype of Vici syndrome as an early onset neurodegenerative disorder with hypopimentation, recurrent infections and muscle findings indicating myopathic and neurogenic features. © 2011 Wiley Periodicals, Inc.
Relationships between age and dental attrition in Australian aboriginals
Authors: Richards L.C. , Miller S.L.J. 
Published: September 2011

AbstractTooth wear scores (ratios of exposed dentin to total crown area) were calculated from dental casts of Australian Aboriginal subjects of known age from three populations. Linear regression equations relating attrition scores to age were derived. The slope of the regression line reflects the rate of tooth wear, and the intercept is related to the timing of first exposure of dentin. Differences in morphology between anterior and posterior teeth are reflected in a linear relationship between attrition scores and age for anterior teeth but a logarithmic relationship for posterior teeth. Correlations between age and attrition range from less than 0.40 for third molars (where differences in the eruption and occlusion of the teeth resulted in different patterns of wear) to greater than 0.80 for the premolars and first molars. Because of the generally high correlations between age and attrition, it is possible to estimate age from the extent of tooth wear with confidence limits of the order of ±10 years.
Skeletal evidence for Inca warfare from the Cuzco region of Peru
Authors: Andrushko Valerie A. , Torres Elva C. 
Published: September 2011

AbstractThis article addresses the bioarchaeological evidence for Inca warfare through an analysis of 454 adult skeletons from 11 sites in the Inca capital region of Cuzco, Peru. These 11 sites span almost 1000 years (AD 600–1532), which allows for a comparison of the evidence for warfare before the Inca came to power (Middle Horizon AD 600–1000), during the time of Inca ascendency in the Late Intermediate Period (AD 1000–1400), and after the Inca came to power and expanded throughout the Cuzco region and beyond (Inca Imperial Period, AD 1400–1532). The results indicate that 100 of 454 adults (22.0%) showed evidence of cranial trauma. Of these, 23 individuals had major cranial injuries suggestive of warfare, consisting of large, complete, and/or perimortem fractures. There was scant evidence for major injuries during the Middle Horizon (2.8%, 1/36) and Late Intermediate Period (2.5%, 5/199), suggesting that warfare was not prevalent in the Cuzco region before and during the Inca rise to power. Only in the Inca Imperial Period was there a significant rise in major injuries suggestive of warfare (7.8%, 17/219). Despite the significant increase in Inca times, the evidence for major cranial injuries was only sporadically distributed at Cuzco periphery sites and was entirely absent at Cuzco core sites. These findings suggest that while the Inca used warfare as a mechanism for expansion in the Cuzco region, it was only one part of a complex expansion strategy that included economic, political, and ideological means to gain and maintain control. Am J Phys Anthropol, 2011. © 2011 Wiley‐Liss, Inc.
Preparation of polyester nanofibers and nanofiber yarns from polyester/cellulose acetate butyrate immiscible polymer blends
Authors: Li Mufang , Xiao Ru , Sun Gang 
Published: September 2011

AbstractDevelopment of high throughput production processes for making thermoplastic nanofiber and nanofiber yarns are urgently needed. PET, PTT, and PBT nanofibers were prepared from PET/CAB, PTT/CAB, PBT/CAB immiscible polymer blends by in situ microfibrillar formation during the melt extruding process. The diameter distribution and crystallization properties of PET, PTT, and PBT nanofibers were analyzed. After removing the CAB matrix phase, the nanofibers could be collected in the forms of random or aligned nanofibers and nanofiber bundles or yarns. To understand the formation mechanism of the nanofibers, the morphology development of three different polyesters in the dispersed phase were studied with samples collected at different zones in a twin‐screw extruder. The morphological development mechanism of the dispersed phases involved the formation of sheets, holes and network structures, then the size reduction and formation of nanofibers. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
“Images of God and friends of God”: The holy icon as document
Authors: Walsh John A. 
Published: September 2011

AbstractInformation studies, from origins in the field of documentation, has long been concerned with the question, What is a document? The purpose of this study is to examine Christian icons—typically tempera paintings on wooden panels—as information objects, as documents: documents that obtain meaning through tradition and standardization, documents around which a sophisticated scaffolding of classification and categorization has developed, documents that highlight their own materiality. Theological arguments that associate the icon with the Incarnation are juxtaposed with theories on the materiality of the document and “information as thing.” Icons are examined as visual and multimedia documents: all icons are graphic; many also incorporate textual information. Icons emerge as a complex information resource: a resource—with origins in the earliest years of Christianity—that developed over centuries with accompanying systems of standardization and classification, a resource at the center of theological and political differences that shook empires, a primarily visual resource within a theological framework that affords the visual equal status with the textual, a resource with enduring relevance to hundreds of millions of Christians, a resource that continues to evolve as ancient and modern icons take on new material forms made possible through digital technologies.
And crist was all, by reason as I preve,Firste a prophete by holy informacion,And by his doctryne, most worthy of byleve.—John Lydgate. Life of Our Lady. IV. II. 309–311We confess and proclaim our salvation in word and images.—Kontakion of the Sunday of Orthodoxy