bluuebunny/crossref_metadata_2025_split huggingface dataset:
Aligned Protein–Polymer Composite Fibers Enhance Nerve Regeneration: A Potential Tissue‐Engineering Platform
Authors: Chew S. Y. , Mi R. , Hoke A. , Leong K. W. 
Published: April 2007

AbstractSustained release of proteins from aligned polymeric fibers holds great potential in tissue‐engineering applications. These protein–polymer composite fibers possess high surface‐area‐to‐volume ratios for cell attachment, and can provide biochemical and topographic cues to enhance tissue regeneration. Aligned biodegradable polymeric fibers that encapsulate human glial cell‐derived neurotrophic factor (GDNF, 0.13 wt %) were fabricated via electrospinning a copolymer of caprolactone and ethyl ethylene phosphate (PCLEEP) with GDNF. The protein was randomly dispersed throughout the polymer matrix in aggregate form, and released in a sustained manner for up to two months. The efficacy of these composite fibers was tested in a rat model for peripheral nerve‐injury treatment. Rats were divided into four groups, receiving either empty PCLEEP tubes (control); tubes with plain PCLEEP electrospun fibers aligned longitudinally (EF‐L) or circumferentially (EF‐C); or tubes with aligned GDNF‐PCLEEP fibers (EF‐L‐GDNF). After three months, bridging of a 15 mm critical defect gap by the regenerated nerve was observed in all the rats that received nerve conduits with electrospun fibers, as opposed to 50 % in the control group. Electrophysiological recovery was seen in 20 %, 33 %, and 44 % of the rats in the EF‐C, EF‐L, and EF‐L‐GDNF groups respectively, whilst none was observed in the controls. This study has demonstrated that, without further modification, plain electrospun fibers can help in peripheral nerve regeneration; however, the synergistic effect of an encapsulated growth factor facilitated a more significant recovery. This study also demonstrated the novel use of electrospinning to incorporate biochemical and topographical cues into a single implant for in vivo tissue‐engineering applications.
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation
Authors: Zaki Maha , Shehab Marwa , El‐Aleem Alice Abd , Abdel‐Salam Ghada , Koeller Hajira B. , Ilkin Yesim , Ross M. Elizabeth , Dobyns William B. , Gleeson Joseph G. 
Published: April 2007

AbstractTwo siblings from a consanguineous Egyptian marriage showed an identical phenotype of cortical lissencephaly with cerebellar hypoplasia, severe epilepsy, and mental retardation. Examination of karyotype revealed 46, t(7;12)(q22;p13)mat (7;12)(q22;p13)pat in both affected children, suggesting a homozygous reciprocal balanced translocation. Each healthy parent was a carrier of the balanced translocation in the heterozygous state, suggesting homozygous disruption of a gene involved in brain development. There were early spontaneous abortions in this family, as would be expected from transmission of an unbalanced chromosome. A disruption of RELN at 7q22.1 with absence of encoded protein was identified. This is the first demonstration that such rare homozygous translocations can be used to identify recessive disease gene mutations. © 2007 Wiley‐Liss, Inc.
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history
Authors: Rodríguez L. , Zollino M. , Mansilla E. , Martínez‐Fernández M.L. , Pérez P. , Murdolo M. , Martínez‐Frías M.L. 
Published: April 2007

AbstractWe report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended in a healthy girl. A high‐resolution G‐band karyotype (550–850 bands), together with Fluorescence in situ Hybridization (FISH) techniques, detected in the father a 4p interstitial euchromatic duplication. This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs. © 2007 Wiley‐Liss, Inc.
Partial trisomy of distal 19q detected by quantitative real‐time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay
Authors: Sauter S.M. , Böhm Detlef , Bartels Iris , Burfeind Peter , Laccone Franco A. , Neesen Jürgen , Wilken Bernd , Liehr Thomas , Zoll Barbara 
Published: April 2007

AbstractWe report on a 2 ${\raise0.5ex\hbox{$\scriptstyle 7$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {12}$}}$‐year‐old girl who was referred to us because of psychomotor developmental delay. She is the second child of healthy, non‐consanguineous parents. Pregnancy and birth were uneventful. Milestones of motor development were delayed: grasping at 6 months, sitting without support at 16 months, crawling at 16 months and walking at 2 ${\raise0.5ex\hbox{$\scriptstyle 4$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {12}$}}$ years of age. She spoke about five words and followed simple instructions. Banding cytogenetics revealed a numerically and structurally normal female karyotype of 46,XX. By quantitative real‐time PCR analysis of all subtelomeric regions, a partial trisomy of the subtelomeric region of 19q could be detected. This result was confirmed by FISH‐analysis with a subtelomeric probe for 19q. The additional material of chromosome 19q was localized on chromosome 6q. However, a deletion of the subtelomeric region of 6q could not be detected with a subtelomeric FISH probe for 6q. Conventional cytogenetic analysis as well as FISH with subtelomeric probes for 19q and 6q showed normal results in the parents. The detected chromosomal aberration probably occurred de novo. The clinical features are very likely to be caused solely by the partial trisomy 19q. © 2007 Wiley‐Liss, Inc.
Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome
Authors: Dempsey Melissa A. , Schwartz Stuart , Waggoner Darrel J. 
Published: April 2007

AbstractThe chromosome 22q11 region is prone to rearrangements, including deletions and duplications, due to the presence of multiple low copy repeats (LCRs). DiGeorge/velo‐cardio‐facial syndrome is the most common microdeletion syndrome with more than 90% of patients having a common 3‐Mb deletion of 22q11.2 secondary to non‐homologous recombination of flanking LCRs. Meiotic reciprocal events caused by LCR‐mediated rearrangement should theoretically lead to an equal number of deletions and duplications. Duplications of this region, however, have been infrequently reported and vary in size from 3 to 6 Mb. This discrepancy may be explained by the difficulty in detecting the duplication and the variable, sometimes quite mild phenotype. This newly described 22q duplication syndrome is characterized by palatal defects, cognitive deficits, minor ear anomalies, and characteristic facial features. We report on a male with truncus arteriosus and an interrupted aortic arch, immunodeficiency, and hypocalcemia. The patient is mosaic for two abnormal cell lines: a deletion [del(22)(q11.2q11.2)] found in 11 cells and a duplication [dup(22)(q11.2q11.2)] found in 9 cells. Molecular cytogenetic analysis in our patient revealed a 1.5 Mb deletion/duplication, the first duplication reported of this size. Deletion/duplication mosaicism, which is rare, has been reported in a number of cases involving many different chromosome segments. We present the clinical phenotype of our patient in comparison to the phenotypes seen in patients with the 22q11.2 deletion or duplication alone. We propose that this rearrangement arose by a mitotic event involving unequal crossover in an early mitotic division facilitated by LCRs. © 2007 Wiley‐Liss, Inc.
De novo trisomy 20p of paternal origin
Authors: Chaabouni Myriam , Turleau Catherine , Karboul Lotfi , Jemaa Lamia Ben , Maazoul Faouzi , Attié‐Bitach Tania , Romana Serge , Chaabouni Habiba 
Published: April 2007

AbstractWe report on a case of a de novo trisomy 20p in a 5‐year‐old boy. The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly. No growth delay was noticed. Standard karyotype and FISH techniques allowed the characterization of the chromosome rearrangement showing a duplication spanning almost the whole short arm of chromosome 20. Therefore the karyotype was interpreted as 46,XY,der(20)(pter → q13.3::p11.2 → pter). Molecular studies identified the duplication of paternal origin. This is one of the rare reports with almost pure trisomy 20p characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature. © 2007 Wiley‐Liss, Inc.
Al‐Awadi/Raas‐Rothschild syndrome: Two new cases and review
Authors: Lonardo Fortunato , Sabba Giovanna , Luquetti Daniela Varela , Monica Matteo Della , Scarano Gioacchino 
Published: April 2007

AbstractAl‐Awadi/Raas‐Rothschild syndrome, an autosomal recessive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings, review the relevant literature, and present minimal criteria for the diagnosis. A single homozygous WNT7A mutation was identified by Woods et al. [2006]: 1179C → T, resulting in Arg292Cys with complete loss of WNT7A function. © 2007 Wiley‐Liss, Inc.
Lung development and implications for hypoplasia found in congenital diaphragmatic hernia
Authors: Kinane T. Bernard 
Published: April 2007

AbstractCongenital diaphragmatic hernia (CDH) is associated with various degrees of pulmonary hypoplasia and severe persistent pulmonary hypertension in the newborn. These conditions have significant implications for the outcome for the patient. Defects in early lung development are likely to be central to the generation of hypoplasia. A number of mouse models with defects in pathways that are central to lung development were found to have CDH. Understanding all aspects of early lung development will provide fresh insight into the pathogenesis of CDH and its associated conditions. © 2007 Wiley‐Liss, Inc.
Single gene disorders associated with congenital diaphragmatic hernia
Authors: Slavotinek Anne M. 
Published: April 2007

AbstractCongenital diaphragmatic hernia (CDH) is a common birth defect with a high pre‐ and postnatal mortality. Although the majority of diaphragmatic hernias occur as isolated malformations, additional major and minor anomalies are common and are present in more than 40% of patients. There are compelling data for the importance of genetic factors in the etiology of CDH, but the pathogenesis and the causative genes for CDH in humans remain elusive. There are more than 70 syndromes in which diaphragmatic hernias have been described, and several of these syndromes are single gene disorders for which the gene is known. One method for identifying the causative genes in isolated CDH is to study syndromes with known genes in which CDH is a recognized feature, with the rationale that those genes have a role in diaphragm development. This review discusses the syndromes that are most commonly associated with CDH, with greater attention towards syndromes in which the causative genes have been identified, including Simpson‐Golabi‐Behmel syndrome, Denys‐Drash syndrome, spondylocostal dysostosis, craniofrontonasal syndrome, Cornelia de Lange syndrome and Marfan syndrome. © 2007 Wiley‐Liss, Inc.
Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH
Authors: Pober Barbara R. 
Published: April 2007

AbstractCongenital diaphragmatic hernia (CDH) is a common and well‐studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH‐multiplex families, and the co‐occurrence of CDH with additional congenital malformations. © 2007 Wiley‐Liss, Inc.
Antenatal and postnatal lung and vascular anatomic and functional studies in congenital diaphragmatic hernia: Implications for clinical management
Authors: Keller Roberta L. 
Published: April 2007

AbstractCongenital diaphragmatic hernia is characterized by fetal and neonatal lung hypoplasia as well as vascular hypoplasia. Antenatal imaging studies have been performed that attempt to quantify the degree of hypoplasia and its impact on infant prognosis. Prenatal and perinatal growth of the lung and vasculature are interdependent and their continued coordinated growth is critical for survival after birth in this patient population. Lung protection strategies appear to improve survival in newborns with diaphragmatic hernia, but a subset of infants remain who demonstrate sufficiently severe lung hypoplasia that we are unable to provide support long‐term after birth. Fetal intervention is a strategy designed to enhance fetal lung growth towards improving survival in this most severely affected group, though other therapies to enhance postnatal lung and vascular growth should be concurrently investigated. However, any of these interventions will require careful selection of those infants at risk for poor outcome and thorough follow up, since long‐term morbidity is significant in children with diaphragmatic hernia. © 2007 Wiley‐Liss, Inc.
Congenital diaphragmatic hernia and associated cardiovascular malformations: Type, frequency, and impact on management
Authors: Lin Angela E. , Pober Barbara R. , Adatia Ian 
Published: April 2007

AbstractThe co‐occurrence of congenital diaphragmatic hernia (CDH) and cardiovascular malformations (CVMs) has important clinical, genetic, and developmental implications. Previous examinations of this topic often included patients with genetic syndromes. To correct this potential bias, we undertook an extensive review of the literature and obtained new data. The frequency of CVMs associated with isolated CDH was 11–15%. A careful analysis of CVMs indicates that atrial and ventricular septal defects, conotruncal defects, and left ventricular outflow tract obstructive defects were the most common type of CVMs, but proportional to the frequency of occurrence in the general population. The combination of CVM and CDH results in a poorer prognosis than would be expected with either malformation alone. However, the impact on survival from patients with a genetic syndrome has not been consistently evaluated. We encourage researchers to re‐analyze existing series and recommend that future studies distinguish isolated CDH from that which is associated with other malformations, especially as part of genetic syndromes. Therapies should be tailored to maximize cardiac output and systemic oxygen delivery rather than systemic oxygen saturation alone. Although there is speculation about the frequency with which isolated left ventricular “hypoplasia” occurs in patients with CDH, we suggest it results from compression of a pre‐load deficient left ventricle by the hypertensive right ventricle, and unlike true hypoplasia, is reversible. Irrespective of the type of severity of CVMs in patients with CDH, the degree of pulmonary hypoplasia and pulmonary vascular disease predicts outcome. © 2007 Wiley‐Liss, Inc.
Emulsifier‐free miniemulsion polymerization of styrene and the investigation of encapsulation of nanoparticles with polystyrene via this procedure using an anionic initiator
Authors: Faridi‐Majidi Reza , Sharifi‐Sanjani Naser 
Published: April 2007

AbstractEmulsifier‐free miniemulsion polymerization of styrene was investigated in the presence of potassium persulfate (KPS) as an anionic initiator and cetyl alcohol as a costabilizer using ultrasonic irradiation and comparison of this procedure with conventional emulsifier‐free emulsion polymerization showed that this method has a remarkably higher polymerization rate (Rp), smaller size of particles, and narrower molecular weight distribution via gravimetric measurement, transmission electron microscopy (TEM), and gel permeation chromatography techniques, respectively. Then, the encapsulation of magnetite (Fe3O4) and titanium dioxide (TiO2) nanoparticles with polystyrene was investigated using this procedure. Attempt to encapsulate magnetite nanoparticles failed; however, the encapsulation of titanium dioxide nanoparticles was successfully carried out via this procedure using KPS in both cases. TEM proved the presence of TiO2 nanoparticles in polymer particles, and thermogravimetric analysis was used to determine the percentage of TiO2 in the products. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2007
Microscopic anatomy of brachial plexus branches in Wistar rats
Authors: Santos Ana Paula , Suaid Carla Adelino , Fazan Valéria Paula Sassoli , Barreira Amilton Antunes 
Published: April 2007

AbstractIn the present study, we analyze the morphology and morphometry of the lateral proper digital nerve of the third finger, and of the proximal and distal segments of the ulnar, median, and radial nerves, in Wistar rats 4 or 7 weeks old. The fascicular area and diameter were generally significantly greater in the proximal compared to distal segments and tended to be larger in 7‐week‐old compared to 4‐week‐old rats (e.g., median nerve area of 0.13 mm2 for the proximal and 0.07 mm2 for distal segments in 4‐week‐old rats, and 0.17 and 0.10 mm2, respectively, for the proximal and distal segments of 7‐week‐old rats). The number of fascicles was significantly greater while the number of myelinated fibers was significantly less in the distal segments (e.g., 1,359 and 509 myelinated fibers, respectively, in the proximal and distal segments of the radial nerve 4‐week‐old rats). There was no significant difference in these parameters between the two age groups. The diameter of the myelinated fibers and their respective axons increased from 4 to 7 weeks of age (e.g., myelinated fiber diameter of 4.10 μm in 4‐week‐old animals and 4.7 μm in the ulnar nerve proximal segment of 7‐week‐old rats). The g‐ratio regression line (axon diameter vs. fiber diameter quotient) was outlined for all the nerves studied here. Differences in myelinated fiber density were detected between the segments of the radial nerve, accompanying the number of myelinated fibers. Detailed knowledge of the microscopic anatomy of rat forelimb nerves provides control data for comparison with studies of experimentally induced neuropathies, which can shed more light on human neuropathies. Anat Rec, 290:477–485, 2007. © 2007 Wiley‐Liss, Inc.
Evolution of neuronal patterning in free‐living rhabditid nematodes I: Sex‐specific serotonin‐containing neurons
Authors: Loer Curtis M. , Rivard Laura 
Published: April 2007

AbstractAs a first step toward understanding the evolution of neuronal patterning and function in a group of simple animals, we have examined serotonin‐containing neurons in 17 species of free‐living rhabditid nematodes and compared them with identified neurons of Caenorhabditis elegans. We found many serotonin‐immunoreactive (serotonin‐IR) neurons that are likely homologs of those in C. elegans; this paper focuses on sex‐specific neurons such as the egg laying hermaphrodite‐specific neurons (HSNs), VCs, and male CAs, CPs, and ray sensory neurons known to function in mating. These cells vary in number and position in the species examined but are consistent with a current molecularly based phylogeny. Two groups (Oscheius and Pristionchus) appear independently to have lost a serotonin‐IR HSN. Oscheius furthermore has no serotonin‐IR innervation of the vulval region, in contrast to every other species we examined. We also saw variation in the location of somas of putative HSN, consistent with evolutionary changes in HSN migration. In C. elegans, the HSN soma migrates during embryogenesis from the tail to the central body, where it innervates its major postsynaptic targets, the vulval muscles. For other species, we observed putative HSN homologs along the anterior‐posterior axis from the head to the tail, but typically HSNs were located near the vulva, which also varies in anterior‐posterior position among the species we examined. The varying positions of the HSN somas in other species are reminiscent of phenotypes seen in various C. elegans mutants with altered HSN migration, suggesting possible mechanisms for the evolutionary differences we observed. J. Comp. Neurol. 502:736–767, 2007. © 2007 Wiley‐Liss, Inc.
Rapid and preferential activation of Fos protein in hypocretin/orexin neurons following the reversal of dehydration‐anorexia
Authors: Watts Alan G. , Sanchez‐Watts Graciela 
Published: April 2007

AbstractDehydration (DE)‐anorexia is stimulated by chronic consumption of hypertonic saline. Spontaneous nocturnal food intake is markedly reduced with this treatment but is rapidly reversed upon the return of drinking water. Here we examined the neurons in the lateral hypothalamic area (LHA) of chronically dehydrated rats for their peptidergic phenotype, colocalization, and activation profiles following the rapid reversal of anorexia. To do this, we used double‐labeling combinations of Fos immunocytochemistry and radioisotopic‐ and digoxigenin‐labeled in situ hybridization. We found that lateral hypothalamic corticotropin‐releasing hormone (CRH) neurons show extensive coexpression with neurotensin mRNA, but they are distinct from hypocretin/orexin and melanin‐concentrating hormone (MCH) neurons. Chronic dehydration increases Fos‐ir in large numbers of neurons in dorsal regions of the LHA. Some of these LHA neurons also show increased CRH, but not hypocretin/orexin or MCH gene expression, as dehydration‐anorexia develops. Furthermore, the behavioral sequence of eating and increased activity exhibited by DE animals in the minutes following water drinking is accompanied by a further increase in the number of Fos‐ir nuclei in the LHA. Increased Fos activation occurs in a significant number of LHA hypocretin/orexin neurons, but not CRH or MCH neurons, in the LHA. Together these data implicate CRH but not hypocretin/orexin or MCH neurons in the LHA in the motor events associated with dehydration. However, when water is returned, contributions to the network controlling responses evidently come from hypocretin/orexin, but not CRH or MCH, neurons in the LHA. J. Comp. Neurol. 502:768–782, 2007. © 2007 Wiley‐Liss, Inc.