bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rathke cleft cyst intracystic nodule: a characteristic magnetic resonance imaging finding
Authors: Binning Mandy J. , Gottfried Oren N. , Osborn Anne G. , Couldwell William T. 
Published: May 2009

Object. The fluid content of Rathke cleft cysts (RCCs) displays variable appearances on magnetic resonance (MR) images and can appear indistinguishable from other intrasellar or suprasellar cystic lesions. Intracystic nodules associated with individual RCCs have been noted, but to date their significance has not been fully explored.
Methods. The authors retrospectively reviewed MR imaging studies obtained in patients harboring intrasellar or suprasellar lesions that were consistent with RCCs to identify the presence and imaging characteristics of intracystic nodules.
An intracystic nodule was present in nine (45%) of 20 patients with an RCC. All intracystic nodules were clearly visible and displayed a characteristic low signal intensity on T2-weighted MR images. The nodule was only visualized on T1-weighted images in four cases, in which it exhibited a consistent high signal intensity similar to that of the cyst fluid. The nodules did not enhance following the intravenous administration of a contrast agent.
Conclusions. Although it is difficult to differentiate RCCs from other sellar cystic lesions because of the variable signal intensities displayed on MR images, the intensity of the intracystic nodule seems consistent on T1- and T2-weighted images, and the nodule is always clearly visible on T2-weighted images. With a nonenhancing cystic lesion that does not cause significant symptoms in the patient, the identification of an intracystic nodule with a characteristic signal intensity will aid in the diagnosis of RCC and the selection of conservative management.
Enhanced brain angiogenesis in chronic cerebral hypoperfusion after administration of plasmid human vascular endothelial growth factor in combination with indirect vasoreconstructive surgery
Authors: Kusaka Noboru , Sugiu Kenji , Tokunaga Koji , Katsumata Atsushi , Nishida Ayumi , Namba Katsunari , Hamada Hirofumi , Nakashima Hiroyuki , Date Isao 
Published: May 2009

Object. Vascular endothelial growth factor (VEGF) is a secreted mitogen associated with angiogenesis. The conceptual basis for therapeutic angiogenesis after plasmid human VEGF gene (phVEGF) transfer has been established in patients presenting with limb ischemia and myocardial infarction. The authors hypothesized that overexpression of VEGF using a gene transfer method combined with indirect vasoreconstruction might induce effective brain angiogenesis in chronic cerebral hypoperfusion, leading to prevention of ischemic attacks.
Methods. A chronic cerebral hypoperfusion model induced by permanent ligation of both common carotid arteries in rats was used in this investigation. Seven days after induction of cerebral hypoperfusion, encephalomyosynangiosis (EMS) and phVEGF administration in the temporal muscle were performed. Fourteen days after treatment, the VEGF gene therapy group displayed numbers and areas of capillary vessels in temporal muscles that were 2.2 and 2.5 times greater, respectively, in comparison with the control group. In the brain, the number and area of capillary vessels in the group treated with the VEGF gene were 1.5 and 1.8 times greater, respectively, relative to the control group.
Conclusions. In rat models of chronic cerebral hypoperfusion, administration of phVEGF combined with indirect vasoreconstructive surgery significantly increased capillary density in the brain. The authors' results indicate that administration of phVEGF may be an effective therapy in patients with chronic cerebral hypoperfusion, such as those with moyamoya disease.
Endoscope-assisted microsurgical resection of an intraneural ganglion cyst of the hypoglossal nerve
Authors: Baldauf Jörg , Junghans Dirk , Schroeder Henry W. S. 
Published: May 2009

✓ An unusual case of an intraneural ganglion cyst of the hypoglossal nerve is presented. Only one case of this rare clinical entity has been reported previously. A 51-year-old woman presented with a 6-month history of left-sided hypoglossal nerve palsy. Magnetic resonance imaging revealed a cystic lesion related to the hypoglossal canal. There was no enhancement of the lesion after administration of Gd. A high-resolution computerized tomography scan of the skull base demonstrated an enlargement of the hypoglossal canal.
To access the lesion, a far-lateral endoscope-assisted microsurgical approach was used. An intraneural ganglion lesion invading the hypoglossal nerve was found and resected. A histopathological examination confirmed that the lesion was an intraneural ganglion cyst. The occurrence of an intraneural ganglion cyst at the hypoglossal nerve is very rare. This case exemplifies an atypical location of a synovial cyst with cranial nerve involvement.
Reflux-free cannula for convection-enhanced high-speed delivery of therapeutic agents
Authors: Krauze Michal T. , Saito Ryuta , Noble Charles , Tamas Matyas , Bringas John , Park John W. , Berger Mitchel S. , Bankiewicz Krystof 
Published: May 2009

Object. Clinical application of the convection-enhanced delivery (CED) technique is currently limited by low infusion speed and reflux of the delivered agent. The authors developed and evaluated a new step-design cannula to overcome present limitations and to introduce a rapid, reflux-free CED method for future clinical trials.
Methods. The CED of 0.4% trypan blue dye was performed in agarose gel to test cannula needles for distribution and reflux. Infusion rates ranging from 0.5 to 50 µl/minute were used. Agarose gel findings were translated into a study in rats and then in cynomolgus monkeys (Macaca fascicularis) by using trypan blue and liposomes to confirm the efficacy of the reflux-free step-design cannula in vivo.
Results of agarose gel studies showed reflux-free infusion with high flow rates using the step-design cannula. Data from the study in rats confirmed the agarose gel findings and also revealed increasing tissue damage at a flow rate above 5-µl/minute. Robust reflux-free delivery and distribution of liposomes was achieved using the step-design cannula in brains in both rats and nonhuman primates.
Conclusions. The authors developed a new step-design cannula for CED that effectively prevents reflux in vivo and maximizes the distribution of agents delivered in the brain. Data in the present study show reflux-free infusion with a constant volume of distribution in the rat brain over a broad range of flow rates. Reflux-free delivery of liposomes into nonhuman primate brain was also established using the cannula. This step-design cannula may allow reflux-free distribution and shorten the duration of infusion in future clinical applications of CED in humans.
Deep brain stimulation in Parkinson disease: a metaanalysis of patient outcomes
Authors: Weaver Frances , Follett Kenneth , Hur Kwan , Ippolito Dolores , Stern Matthew 
Published: May 2009

Object. Deep brain stimulation (DBS) to treat advanced Parkinson disease (PD) has been focused on one of two anatomical targets: the subthalamic nucleus (STN) and the globus pallidus internus (GPI). Authors of more than 65 articles have reported on bilateral DBS outcomes. With one exception, these studies involved pre- and postintervention comparisons of a single target. Despite the paucity of data directly comparing STN and GPI DBS, many clinicians already consider the STN to be the preferred target site. In this study the authors conducted a metaanalysis of the existing literature on patient outcomes following DBS of the STN and the GPI.
Methods. This metaanalysis includes 31 STN and 14 GPI studies. Motor function improved significantly following stimulation (54% in patients whose STN was targeted and 40% in those whose GPI was stimulated), with effect sizes (ESs) of 2.59 and 2.04, respectively. After controlling for participant and study characteristics, patients who had undergone either STN or GPI DBS experienced comparable improved motor function following surgery (p = 0.094). The performance of activities of daily living improved significantly in patients with either target (40%). Medication requirements were significantly reduced following stimulation of the STN (ES = 1.51) but did not change when the GPI was stimulated (ES = −0.02).
Conclusions. In this analysis the authors highlight the need for uniform, detailed reporting of comprehensive motor and nonmotor DBS outcomes at multiple time points and for a randomized trial of bilateral STN and GPI DBS.
Resection of parietal lobe gliomas: incidence and evolution of neurological deficits in 28 consecutive patients correlated to the location and morphological characteristics of the tumor
Authors: Russell Stephen M. , Elliott Robert , Forshaw David , Kelly Patrick J. , Golfinos John G. 
Published: May 2009

Object. The goal of this study is to report the incidence and clinical evolution of neurological deficits in patients who underwent resection of gliomas confined to the parietal lobe.
Methods. Patient demographics, findings of serial neurological examinations, tumor location and neuroimaging characteristics, extent of resection, and surgical outcomes were tabulated by reviewing inpatient and office records, as well as all pre- and postoperative magnetic resonance (MR) images obtained in 28 consecutive patients who underwent resection of a glial neoplasm found on imaging studies to be confined to the parietal lobe. Neurological deficits were correlated with hemispheric dominance, location of the lesion within the superior or inferior parietal lobules, subcortical extension, and involvement of the postcentral gyrus.
The tumors were located in the dominant hemisphere in 18 patients (64%); had a mean diameter of 39 mm (range 14–69 mm); were isolated to the superior parietal lobule in six patients (21%) and to the inferior parietal lobule in eight patients (29%); and involved both lobules in 14 patients (50%). Gross-total resection, documented by MR imaging, was achieved in 24 patients (86%). Postoperatively, nine patients (32%) experienced new neurological deficits, whereas seven (25%) had an improvement in their preoperative deficit. A correlation was noted between larger tumors and the presence of neurological deficits both before and after resection. Postoperatively higher-level (association) parietal deficits were noted only in patients with tumors involving both the superior and inferior parietal lobules in the dominant hemisphere. At the 3-month follow-up examination, five of nine new postoperative deficits had resolved.
Conclusions. Neurological deterioration and improvement occur after resection of parietal lobe gliomas. Parietal lobe association deficits, specifically the components of Gerstmann syndrome, are mostly associated with large tumors that involve both the superior and inferior parietal lobules of the dominant hemisphere. New hemineglect or sensory extinction was not noted in any patient following resection of lesions located in the nondominant hemisphere. Nevertheless, primary parietal lobe deficits (for example, a visual field loss or cortical sensory syndrome) occurred in patients regardless of hemispheric dominance.
Aneurysms of the posterior circulation: detection and treatment planning using volume-rendered three-dimensional helical computerized tomography angiography
Authors: Villablanca J. Pablo , Achiriolaie Adina , Hooshi Parizad , Martin Neil , Duckwiler Gary , Jahan Reza , Frazee John , Gobin Pierre , Sayre James , Viñuela Fernando 
Published: May 2009

Object. The aim of this study was to determine whether computerized tomography (CT) angiography could be used to identify and characterize aneurysms of the posterior circulation and guide optimal treatment selection, and how data obtained using this method compared with intraoperative findings.
Methods. Patients suspected of harboring brain aneurysms underwent CT angiography and digital subtraction (DS) angiography; the results were prospectively interpreted by blinded independent evaluators. All patients with posterior circulation aneurysms were consecutively enrolled in the study. After treatment, neurosurgeons and endovascular therapists evaluated the ability of CT and DS angiography to demonstrate features of the lesions important for triage between treatment options (Wilcoxon signed-rank test) and to allow for coil or clip preselection and complete treatment planning (McNemar test of proportions), while using intraoperative findings as the basis of truth.
In 242 patients overall, CT angiography detected 38 aneurysms and two aneurysmal blisters in 32 patients. The sensitivity of CT angiography in revealing posterior circulation aneurysms was 100% compared with DS angiography, with no false-positive results. Furthermore, CT angiography was sufficient as the sole study at triage for 65% of the posterior circulation aneurysms (26 of 40 lesions; p < 0.001), including 62% of the complex lesions (p < 0.001), and permitted coil or clip preselection in 74% of treated cases (20 of 27 cases; p < 0.002). Results of CT angiography revealed information about mural calcification and intraluminal thrombus not available on DS angiography, which affected patient care.
Conclusions. In this study population, CT angiography was comparable to DS angiography in the detection and characterization of aneurysms of the posterior circulation. Computerized tomography angiography was used successfully to triage patients between endovascular and neurosurgical treatment options in a significant proportion of cases and permitted treatment planning in more than 70% of treated cases.
Local distribution and toxicity of prolonged hippocampal infusion of muscimol
Authors: Heiss John D. , Walbridge Stuart , Morrison Paul , Hampton Robert R. , Sato Susumu , Vortmeyer Alexander , Butman John A. , O'Malley James , Vidwan Param , Dedrick Robert L. , Oldfield Edward H. 
Published: May 2009

Object. The activity of γ-aminobutyric acid (GABA), the principal inhibitory neurotransmitter, is reduced in the hippocampus in patients with complex partial seizures from mesial temporal sclerosis. To provide preliminary safety and distribution data on using convection-enhanced delivery of agents to treat complex partial seizures and to test the efficacy and safety of regional selective neuronal suppression, the authors infused muscimol, a GABA-A receptor agonist, directly into the hippocampus of nonhuman primates using an integrated catheter electrode.
Methods. Ten rhesus monkeys were divided into three groups: 1) use of catheter electrode alone (four monkeys); 2) infusion of escalating concentrations of muscimol followed by vehicle (three monkeys); and 3) infusion of vehicle and subsequent muscimol mixed with muscimol tracer (three monkeys). Infusions were begun 5 days after catheter electrode placement and continued for 5.6 days before switching to the other agent. Head magnetic resonance (MR) images and electroencephalography recordings were obtained before and during the infusions. Brain histological studies and quantitative autoradiography were performed.
Neurological function was normal in controls and when muscimol concentrations were 0.125 mM or less, whereas higher concentrations (0.5 and 1 mM) produced reversible apathy and somnolence. Fluid distribution was demonstrated on MR images and muscimol distribution was demonstrated on autoradiographs throughout the hippocampus and adjacent white matter.
Conclusions. Targeted modulation of neuronal activity is a reasonable research strategy for the investigation and treatment of medically intractable epilepsy.
Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature
Authors: Anderka Marlene T. , Lin Angela E. , Abuelo Dianne N. , Mitchell Allen A. , Rasmussen Sonja A. 
Published: May 2009

AbstractMycophenolate mofetil (MMF) (CellCept®) is an immunosuppressant drug that is teratogenic in rats and rabbits. Reports of malformations in 13 offspring of women exposed to MMF in pregnancy raise concern that MMF is also a human teratogen. We report an additional child with malformations following prenatal exposure to MMF and review the other 13 reports. We identified a Cambodian male born at 31 weeks' gestation to a mother who had been treated for lupus nephritis with MMF from before conception to 12 weeks' gestational age. He had bilateral moderate‐to‐severe microtia, external auditory canal atresia, bilateral conductive hearing loss, mild microcephaly, and apparently normal development. Among the 14 MMF‐exposed offspring now reported, the underlying maternal conditions were kidney transplantation (7), lupus nephritis (4), liver transplantation (1), heart transplantation (1), and recurrent erythema multiforme (1). All were exposed in early pregnancy. The most distinctive malformation was moderate‐to‐severe microtia or anotia (12), with external auditory canal atresia in 9. Other common craniofacial malformations and minor anomalies included orofacial clefts (7), hypertelorism (3), coloboma (3), and micrognathia (3). Six had cardiovascular malformations, of which three were either conotruncal or aortic arch defects. MMF dose, reported in 12 patients, was <1 g/day in 4 and 1 g or more/day in 8; no correlation between dose and phenotype severity was apparent. While case reports have limited value in identifying human teratogens, the unusual distribution of malformations among the 14 reported exposed offspring identifies a phenotype suggesting that MMF is likely a human teratogen. © 2009 Wiley‐Liss, Inc.
The ring 14 syndrome: Clinical and molecular definition
Authors: Zollino Marcella , Seminara Laura , Orteschi Daniela , Gobbi Giuseppe , Giovannini Simona , Giustina Elvio Della , Frattini Daniele , Scarano Angela , Neri Giovanni 
Published: May 2009

AbstractThe ring 14 (r14) syndrome is a rare condition, whose precise clinical and genetic characterization is still lacking. We analyzed a total of 20 patients with r14 and another 9 patients with a linear 14q deletion. The ring was complete, with no apparent loss of chromosome material, in 6 cases; a terminal 14q deletion, varying in size from 0.65 to 5 Mb, was detected in the remaining 14 cases. Deleted ring chromosomes were 70% paternal and 30% maternal. UPD (14) was never detected. With respect to the linear 14q deletions, three were proximal, varying in size from 4 to 7.2 Mb, and six distal, varying in size from 4.8 to 20 Mb. The majority of the linear deletions were also of paternal origin, and UPD (14) was excluded in all cases. Clinically, the r14 syndrome was characterized by a recognizable phenotype, consisting of shortness of stature, a distinctive facial appearance, microcephaly, scoliosis, and ocular abnormalities, which included abnormal retinal pigmentation, strabismus, glaucoma, and abnormal macula. All patients except one had mental retardation. Drug‐resistant epilepsy was another highly consistent finding. Aggressive and hyperactive behavior was noted in about half of the patients. Based on genotype–phenotype correlations, we could deduce that retinal abnormalities, epilepsy, microcephaly, and mental retardation map within the proximal 14q11.2‐q12 region. Likewise, behavior disorders and scoliosis could be assigned to the 14q32 region. © 2009 Wiley‐Liss, Inc.
The Xp contiguous deletion syndrome and autism
Authors: Shinawi Marwan , Patel Ankita , Panichkul Prisana , Zascavage Roxanne , Peters Sarika U. , Scaglia Fernando 
Published: May 2009

AbstractXp22 nullisomy in males causes a phenotype consistent with the loss of one or more of the genes located in this chromosomal region. Females with similar Xp deletions rarely manifest the same phenotype. Here we describe a 10‐year‐old girl with a de novo interstitial deletion encompassing Xp22.2p22.32 who presented with autism, moderate mental retardation, and some dysmorphic features. The deletion was delineated by FISH and STR analyses, and the breakpoints were determined using the Agilent 244 K oligonucleotide array. We found that the 5.5 Mb deletion is located on the paternal X chromosome and encompasses 18 genes. Further molecular and cytogenetic analyses showed unfavorable skewing of X‐inactivation of the maternal (intact) chromosome. The phenotype of our patient was compared with previously reported female patients with deletions encompassing the same chromosomal region. We discuss the potential role of the genes in the deleted region and X chromosome inactivation in the pathogenesis of the phenotypic abnormalities seen in our patient. Our findings suggest that the severity and the variability of the clinical findings are determined by the size and the parental origin of the deletions as well as the X‐inactivation status. © 2009 Wiley‐Liss, Inc.
Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation
Authors: Hernandez R. Nick , Feinberg Rachel L. , Vaurio Rebecca , Passanante Natalie M. , Thompson Richard E. , Kaufmann Walter E. 
Published: May 2009

AbstractThe present study extends our previous work on characterizing the autistic behavior profile of boys with fragile X syndrome (FXS) who meet Diagnostic and Statistical Manual for Mental Disorders, 4th Edition criteria for autism spectrum disorder (ASD) into a longitudinal evaluation of ASD in FXS (FXS + ASD). Specifically, we aimed to determine the stability of the diagnosis and profile of ASD in FXS over time. Through regression models, we also evaluated which autistic and social behaviors and skills were correlates of diagnosis and autistic behavior severity (i.e., Autism Diagnostic Interview‐Revised total scores). Finally, we assessed the evolution of cognitive parameters in FXS + ASD. A population of 56 boys (30–88 months at baseline) with FXS was evaluated using measures of autistic, social, and cognitive behaviors and skills at three yearly evaluations. We found that the diagnosis of ASD in FXS was relatively stable over time. Further emphasizing this stability, we found a set of behaviors and skills, particularly those related to peer relationships and adaptive socialization, that differentiated FXS + ASD from the rest of the FXS cohort (FXS + None) and contributed to autistic severity at all time points. Nevertheless, the general improvement in autistic behavior observed in FXS + ASD coupled with the concurrent worsening in FXS + None resulted in less differentiation between the groups over time. Surprisingly, FXS + ASD IQ scores were stable while FXS + None non‐verbal IQ scores declined. Our findings indicate that ASD is a distinctive subphenotype in FXS characterized by deficits in complex social interaction, with similarities to ASD in the general population. © 2009 Wiley‐Liss, Inc.