bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sciatic nerve injury model in the axolotl: functional, electrophysiological, and radiographic outcomes
Authors: Kropf Nina , Krishnan Kartik , Chao Moses , Schweitzer Mark , Rosenberg Zehava , Russell Stephen M. 
Published: September 2009

Object
The 2 aims of this study were as follows: 1) to establish outcome measures of nerve regeneration in an axolotl model of peripheral nerve injury; and 2) to define the timing and completeness of reinnervation in the axolotl following different types of sciatic nerve injury.

Methods
The sciatic nerves in 36 axolotls were exposed bilaterally in 3 groups containing 12 animals each: Group 1, left side sham, right side crush; Group 2, left side sham, right side nerve resected and proximal stump buried; and Group 3 left side cut and sutured, right side cut and sutured with tibial and peroneal divisions reversed. Outcome measures included the following: 1) an axolotl sciatic functional index (ASFI) derived from video swim analysis; 2) motor latencies; and 3) MR imaging evaluation of nerve and muscle edema.

Results
For crush injuries, the ASFI returned to baseline by 2 weeks, as did MR imaging parameters and motor latencies. For buried nerves, the ASFI returned to 20% below baseline by 8 weeks, with motor evoked potentials present. On MR imaging, nerve edema peaked at 3 days postintervention and gradually normalized over 12 weeks, whereas muscle denervation was present until a gradual decrease was seen between 4 and 12 weeks. For cut nerves, the ASFI returned to 20% below baseline by Week 4, where it plateaued. Motor evoked potentials were observed at 2–4 weeks, but with an increased latency until Week 6, and MR imaging analysis revealed muscle denervation for 4 weeks.

Conclusions
Multiple outcome measures in which an axolotl model of peripheral nerve injury is used have been established. Based on historical controls, recovery after nerve injury appears to occur earlier and is more complete than in rodents. Further investigation using this model as a successful “blueprint” for nerve regeneration in humans is warranted.
Use of a vascular reconstruction device to salvage acute ischemic occlusions refractory to traditional endovascular recanalization methods
Authors: Mocco J , Hanel Ricardo A. , Sharma Jitendra , Hauck Erik F. , Snyder Kenneth V. , Natarajan Sabareesh K. , Linfante Italo , Siddiqui Adnan H. , Hopkins L. Nelson , Boulos Alan S. , Levy Elad I. 
Published: September 2009

Object
Acute revascularization has been associated with improved stroke outcomes. The Prolyse in Acute Cerebral Thromboembolism (PROACT II) trial achieved recanalization rates of 66%. The Multi Mechanical Embolus Removal in Cerebral Ischemia (Multi MERCI) trial achieved recanalization in 70% of patients. However, these interventional tools are not always successful. The Enterprise vascular reconstruction device was recently introduced for treatment of cerebral aneurysms previously untreatable with endovascular techniques. The authors evaluated a multicenter experience using this stent as a salvage revascularization tool for acute stroke treatment.

Methods
Four medical centers participated in a retrospective review of endovascularly treated patients with acute stroke for cases treated with the Enterprise stent after routine interventions had been unsuccessful. Data collected included preprocedure information, intraprocedure findings, and outcomes.

Results
Twenty patients with acute stroke (mean age 61.6 ± 22 years) were treated with the Enterprise stent. Ten patients received intravenous recombinant tissue plasminogen activator before catheter intervention, without improvement. Intraarterial interventions attempted unsuccessfully before Enterprise deployment included the Merci retriever (12 patients), angioplasty (7 patients), glycoprotein IIb–IIIa inhibitor administration (12 patients), intraarterial nitroglycerin (1 patient), Wingspan stent deployment (3 patients), and Xpert stent deployment (1 patient). The mean preintervention National Institutes of Health Stroke Scale (NIHSS) score was 17 ± 6 (median 17). All patients presented with a Thrombolysis in Myocardial Infarction (TIMI) score of 0 or 1. Revascularization was achieved in all patients (75% with a TIMI score of 3, 25% with a TIMI score of 2). Improvement (≥ 4 points on the NIHSS) was documented in 75% of patients. Mean NIHSS improvement from intervention to discharge was 8 ± 7 points (median 9 points).

Conclusions
These preliminary data suggest a potential benefit to the use of the Enterprise stent when routine intervention methods fail.
Cutting Edge:Dab2Is a FOXP3 Target Gene Required for Regulatory T Cell Function
Authors: Jain Nitya , Nguyen Hai , Friedline Randall H. , Malhotra Nidhi , Brehm Michael , Koyanagi Madoka , Bix Mark , Cooper Jonathan A. , Chambers Cynthia A. , Kang Joonsoo 
Published: September 2009

AbstractFOXP3-expressing regulatory T (Treg) cells are vital for maintaining peripheral T cell tolerance and homeostasis. The mechanisms by which FOXP3 target genes orchestrate context-dependent Treg cell function are largely unknown. In this study we show that in mouse peripheral lymphocytes the Drosophila Disabled-2 (Dab2) homolog, a gene that is involved in enhancing TGFβ responses, is exclusively expressed in FOXP3+ regulatory T cells. Dab2 is a direct target of FOXP3, and regulatory T cells lacking DAB2 are functionally impaired in vitro and in vivo. However, not all aspects of Treg cell function are perturbed, and DAB2 appears to be dispensable for Treg cell function in maintaining naive T cell homeostasis.
Experiences of health care providers managing sexual assault victims in the emergency unit Part 1: Background and methodology
Authors: Skhosana Rebecca M. , Peu Mmapheko D. 
Published: September 2009

The objective of this study was to explore and describe the experiences of health care providers managing sexual assault victims in the emergency unit of a community hospital in the Nkangala district in the Mpumalanga Province. A qualitative, phenomenological design was applied. Purposeful sampling was used to select participants from health care providers who were working in the emergency unit and had managed more than four sexual assault victims. Data were collected by means of individual interviews and analysed according to the Tesch method of data analysis by the researcher and the independent co-coder. Main categories, subcategories and themes were identified. Participants expressed their emotions, challenges and police attitudes and behaviours as well as inconsistencies in guidelines and needs identification. It was recommended that members of the multidisciplinary team engage in community activities and that the community participate in matters pertaining to sexual assault. Government should develop clear guidelines that are applicable to rural and urban South Africa. Health care sciences should aim to train more forensic nurses. All relevant departments should work together to alleviate the complications caused by sexual assault incidents. Opsomming: Die doel van hierdie studie was om die ervaringe van gesondheidsorgverskaffers wat slagoffers van seksuele aanranding in die ongevalle-eenheid van 'n gemeenskapshospitaal in die Nkangala-distrik in die provinsie van Mpumalanga hanteer, te verken en te beskryf. ’n Kwalitatiewe fenomenologiese ontwerp is toegepas. Doelbewuste steekproefneming is gebruik om deelnemers te selekteer uit die groep gesondheidsorgverskaffers wat in die ongevalle-eenheid werksaam was en meer as vier slagoffers van seksuele aanranding hanteer het. Data is by wyse van individuele onderhoude ingesamel en volgens die Tesch-metode van data-analise deur die navorser en die onafhanklike medekodeerder geanaliseer.Hoofkategorieë, subkategorieë en temas is geïdentifiseer. Deelnemers het uitdrukking gegee aan hulle emosies, uitdagings, die houding en gedrag van polisiebeamptes, teenstrydighede in riglyne en behoefte-identifikasie. Aanbevelings is dat multidissiplinêre spanlede betrokke moet wees by gemeenskapsaktiwiteite en dat die gemeenskap moet deelneem aan sake wat verband hou met seksuele aanranding. Die regering moet duidelike riglyne ontwikkel wat op landelike en stedelike Suid-Afrika van toepassing is. Gesondheidsorgwetenskappe moet daarop gerig wees om meer forensiese verpleeg-kundiges op te lei. Alle toepaslike departemente moet saamwerk om die komplikasies te verlig wat deur voorvalle van seksuele aanranding veroorsaak word.
Differential expression of galectin-3, CK19, HBME1, and Ret oncoprotein in the diagnosis of thyroid neoplasms by fine needle aspiration biopsy
Authors: Saleh Husain A. , Feng Jining , Tabassum Farah , Al-Zohaili Opada , Husain Muji , Giorgadze Tamara 
Published: September 2009

Background:Fine needle aspiration biopsy (FNAB) is a common and excellent procedure for the evaluation of thyroid lesions that require surgical resection. At times, the FNAB diagnosis can be difficult, particularly of follicular-patterned lesions. Previous studies have shown that some immunohistochemical (IHC) markers may be helpful in establishing more accurate diagnosis. In this study, our goal was to evaluate four of the recently investigated markers in differentiating benign from malignant thyroid nodules on FNABs.Materials and Methods:We performed IHC staining of galectin-3, Ret oncoprotein (Ret), HBME-1, and cytokeratin 19 (CK19), on cell block sections of thyroid FNAB cases that had corresponding surgical resections. They included 44 benign lesions (37 hyperplastic or cellular nodules, HN; and 7 follicular adenomas, FA) and 27 malignant tumors (6 follicular carcinoma, FC; 19 classic papillary carcinoma, PTC; and 2 follicular variant of papillary carcinoma, FVPC). The stains were done according to the standard avidin–biotin–peroxidase method.Results:Statistical analysis showed that immunoexpression was significantly higher in the malignant group for all four markers. The sensitivity for positive expression for all benign lesions versus malignant tumors was as follows: 10/44 (22.7%) versus 25/27 (92.6%) for galectin-3; 14/44 (31.8%) versus 23/27 (85%) for Ret; 12/44 (27.3%) versus 24/27 (88.8%) for HBME-1; and 13/44 (29.5%) versus 23/27 (85%) for CK19. The sensitivity and specificity was highest for galectin-3 (92.6% and 77.3%, respectively) followed by HMBE-1 (88.9% and 72.7%, respectively). When combining the markers' expressions, the panel of galectin-3 + HBME-1 showed the highest sensitivity and specificity (90.7% and 75%, respectively), but this was, however, lower than galectin-3 alone (92.3% and 77.3%, respectively).Conclusion:We conclude that galectin-3 is the best single marker in differentiating benign from malignant thyroid lesions with the highest sensitivity and specificity. The galectin-3 + HBME-1 was the best combination for distinguishing benign from malignant lesions. Because they were the best two independent and combined markers, we recommend the use of the galectin-3 + HBME-1 panel to enhance the diagnostic accuracy of follicular-patterned thyroid lesions on FNABs.
Phototunable Azobenzene Cholesteric Liquid Crystals with 2000 nm Range
Authors: White Timothy J. , Bricker Rebecca L. , Natarajan Lalgudi V. , Tabiryan Nelson V. , Green Lisa , Li Quan , Bunning Timothy J. 
Published: September 2009

AbstractPhototuning of more than 2000 nm is demonstrated in an azobenzene‐based cholesteric liquid crystal (azo‐CLC) consisting of a high‐helical‐twisting‐power, axially chiral bis(azo) molecule (QL76). Phototuning range and rate are compared as a function of chiral dopant concentration, light intensity, and thickness. CLCs composed of QL76 maintain the CLC phase regardless of intensity or duration of exposure. The time necessary for the complete restoration of the original spectral properties (position, bandwidth, baseline transmission, and reflectivity) of QL76‐based CLC is dramatically reduced from days to a few minutes by polymer stabilization of the CLC helix.
Mandibuloacral dysplasia type A in childhood
Authors: Garavelli L. , D'Apice M.R. , Rivieri F. , Bertoli M. , Wischmeijer A. , Gelmini C. , De Nigris V. , Albertini E. , Rosato S. , Virdis R. , Bacchini E. , Dal Zotto R. , Banchini G. , Iughetti L. , Bernasconi S. , Superti‐Furga A. , Novelli G. 
Published: September 2009

AbstractMandibuloacral dysplasia type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5‐year‐old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4‐year‐old girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acro‐osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, (p.R527H) in exon 9 of the LMNA gene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis. © 2009 Wiley‐Liss, Inc.
Czech dysplasia occurring in a Japanese family
Authors: Matsui Yoshito , Michigami Toshimi , Tachikawa Kanako , Yamazaki Miwa , Kawabata Hidehiko , Nishimura Gen 
Published: September 2009

AbstractCzech dysplasia (OMIM 609162) is a recently established COL2A1 disorder characterized by normal height, early‐onset osteoarthritis, platyspondyly, short metatarsals, and the absence of ophthalmological complications or cleft palate. A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders. Since all of the 11 families and patients reported to date were of European ancestry, an ancient single origin of the R275C mutation was speculated about. Here we report on a Japanese family consisting of three patients with Czech dysplasia, each member showing valgus knees in addition to remarkably uniform manifestation of the clinical and radiological abnormalities. Mutation analysis documented the COL2A1 c.823C > T mutation in all affected individuals. In conclusion, this report provides novel evidence for the independent occurrence of Czech dysplasia among the populations. © 2009 Wiley‐Liss, Inc.
Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: Fragile X leads to chromosome loss
Authors: Dobkin Carl , Radu Gabriel , Ding Xiao‐Hua , Brown W. Ted , Nolin Sarah L. 
Published: September 2009

AbstractThe fragile X mutation is an expansion of a CGG triplet repeat in the 5′ untranslated region of the FMR1 gene. Expansion to >200 repeats (the “full mutation”) silences FMR1 transcription and leads to the fragile X mental retardation syndrome in males and in some females. It also affects the structure of the mitotic chromosome as evidenced by a folate sensitive fragile site. Isolated cases of 45,X/46,XX (mosaic Turner syndrome) in full mutation females have been reported but an increased prevalence was not apparent from these reports. PCR and Southern analysis of the CGG repeat in 423 prenatal female samples identified 106 full mutation cases. Surprisingly five of these had 45,X/4,6XX mosaicism while none of the other 317 female fetuses did. In two of the five cases ≥50% of the cells were reported to be 45,X and in the other three, ≤14%. We investigated the association of the full mutation and mosaic Turner syndrome using polymorphisms and single cell cloning to identify the X chromosome that was lost. Our analysis indicates that at least four of the five full mutation mosaicism cases were due to loss of the maternal, full mutation chromosome. These data indicate that 45,X/46,XX mosaicism is much more common than expected in fragile X full mutation females. Moreover, they suggest that the presence of the fragile X full mutation on a chromosome may predispose it to loss during mitosis, possibly due to the altered structure of the metaphase fragile X chromosome. © 2009 Wiley‐Liss, Inc.
Confirmation of TFAP2A gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies
Authors: Stoetzel C. , Riehm S. , Bennouna Greene V. , Pelletier V. , Vigneron J. , Leheup B. , Marion V. , Hellé S. , Danse J.M. , Thibault C. , Moulinier L. , Veillon F. , Dollfus H. 
Published: September 2009

AbstractBranchio‐oculo‐facial syndrome (BOFS) is an autosomal‐dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects including cleft lip and/or palate (CL/P). We report on one family with three affected, and two sporadic cases that have been found to carry missense mutations in the newly reported BOFS gene: TFAP2A. This report confirms the involvement of this transcription factor in this developmental syndrome with clinical variability. Moreover, we present CT scan temporal bone anomalies in the familial cases, related to branchial arch defects, highlighting the importance of radiological investigations for differential diagnosis. © 2009 Wiley‐Liss, Inc.
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literature
Authors: Verbrugge Joel , Choudhary Arabinda Kumar , Ladda Roger 
Published: September 2009

AbstractWolf–Hirschhorn syndrome (4p‐) is a rare disorder with characteristic physical findings. Neuroimaging findings are relatively scarce. We performed a literature search and found 22 reports of neuroimaging findings. We present findings in our two cases, each with the previously unreported finding of a tethered cord. The most common abnormalities were of the corpus callosum, occurring in 71% of all cases. There appears to be a high association in the syndrome between corpus callosal abnormalities and periventricular cysts formation in the first year of life. These cysts eventually fuse with the frontal horns during late infancy with enlargement of the frontal horns. Absence of other causes for periventricular cyst formation, such as perinatal distress, prematurity, or cytomegalovirus infection, appears to strengthen the association. With further studies, neuroimaging findings may eventually assist in the diagnosis of patients with Wolf–Hirschhorn syndrome. © 2009 Wiley‐Liss, Inc.
Genotype–phenotype correlations in VHL exon deletions
Authors: McNeill Alisdair , Rattenberry Eleanor , Barber Richard , Killick Pip , MacDonald Fiona , Maher Eamonn R. 
Published: September 2009

AbstractVon Hippel‐Lindau (VHL) syndrome is a dominantly inherited familial cancer syndrome caused by mutations in the VHL gene. VHL syndrome displays marked variation in expression and analysis of genotype–phenotype correlations have led to the concept of four subtypes of VHL syndrome (Types 1, 2A–C). Type 2 subtypes of VHL syndrome are characterized by the presence of pheochromocytoma and the three Type 2 subtypes are associated with differing risks of hemangioblastoma and renal cell carcinoma (RCC). Type 2 VHL syndrome is usually associated with surface missense mutations. Type 1 VHL syndrome is most commonly caused by germline exon deletions and truncating mutations and is characterized by susceptibility to hemangioblastomas and RCC but not pheochromocytoma. Recently, it has been suggested that large VHL gene deletions involving C3orf10 (HSPC300) might be associated with a low risk of RCC. We have reviewed the molecular and clinical characteristics of 127 individuals with germline VHL gene deletions. Large VHL gene deletions associated with a contiguous loss of C3orf10 were associated with a significantly lower lifetime risk of RCC than deletions that did not involve C3orf10. The risks of hemangioblastomas were similar in both groups. These results add to the growing body of evidence suggesting that patients with VHL syndrome caused by large VHL deletions that include C3orf10 may be designated as having a specific subtype (Type 1B) of the disorder. © 2009 Wiley‐Liss, Inc.
Expanding CEP290 mutational spectrum in ciliopathies
Authors: Travaglini Lorena , Brancati Francesco , Attie‐Bitach Tania , Audollent Sophie , Bertini Enrico , Kaplan Josseline , Perrault Isabelle , Iannicelli Miriam , Mancuso Brunella , Rigoli Luciana , Rozet Jean‐Michel , Swistun Dominika , Tolentino Jerlyn ,   The International JSRD Study Group, Dallapiccola Bruno , Gleeson Joseph G. , Valente Enza Maria 
Published: September 2009

AbstractCiliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior‐Loken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To assess whether genomic rearrangements involving the CEP290 gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290 heterozygous patients, including five JSRD/MKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290 C‐terminus that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290 genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified. © 2009 Wiley‐Liss, Inc.