bluuebunny/crossref_metadata_2025_split huggingface dataset:
Silver–Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization
Authors: Cocchi Guido , Marsico Concetta , Cosentino Anita , Spadoni Chiara , Rocca Alessandro , De Crescenzo Agostina , Riccio Andrea 
Published: August 2013

ABSTRACTSilver–Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been reported in children born from assisted reproductive technology (ART); however there is currently little evidence linking SRS and ART. Only few infants with SRS born using ART, supported by molecular analysis, have been described. We report on a twin‐girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with SRS. Molecular studies revealed a hypomethylation of the paternal H19/IGF2 Imprinting Control Region. Her twin sister had a normal prenatal and postnatal growth and a normal methylation pattern of the chromosome 11p15. This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of H19/IGF2; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. Given the clinical heterogeneity of SRS, and the increased risk of multiple and preterm births in the ART‐conceived children, it is possible that a number of cases of SRS remains undiagnosed in this population. Future studies should investigate the possible link between ART and SRS, in order to better understand the causes of epimutations in ART pregnancies, and to help clinicians to adequately counsel parents who approach to ART and to assess the opportunity of a long‐term follow‐up of children conceived using ART. © 2013 Wiley Periodicals, Inc.
Management of hypogonadism in adolescent girls and adult women with Prader–Willi syndrome
Authors: Eldar‐Geva Talia , Hirsch Harry J. , Pollak Yehuda , Benarroch Fortu , Gross‐Tsur Varda 
Published: August 2013

AbstractPrader–Willi syndrome (PWS) is a neurodevelopmental disorder characterized by an insatiable appetite, dysmorphic features, cognitive and behavioral difficulties, and hypogonadism. The heterogeneous reproductive hormone profiles indicate that some PWS women may have symptoms of hypoestrogenism, while others may potentially be fertile. We describe our experience in the assessment and treatment of hypogonadism in adolescents and adult females with PWS. The study population consisted of 20 PWS females, age ≥16 years (27.3 ± 7.9 years), followed in our clinic (12 deletion, 7 uniparental disomy, 1 imprinting‐center defect). General physical examination, pubertal assessment, body mass index (BMI), gynecological examination, ultrasonography, bone densitometry, and hormonal profiles [FSH, LH, inhibin B, estradiol, prolactin, and TSH] were performed. The relevant assessed factors were: FSH and inhibin B, menstrual cycles (oligo/amenorrhea or irregular bleeding), ultrasound findings (endometrial thickness, uterine/ovarian abnormalities), BMI, bone densitometry, and patient/caregivers attitude. We classified seven women with inhibin B >20 ng/ml as potentially fertile. Following the assessment of the above factors, we recommended the individual‐specific treatment; contraceptive pills, intra‐uterine device, estrogen/progesterone replacement, and cyclic progesterone, in 3, 1, 4, and 1 patients, respectively. Four patients did not follow our recommendations due to poor compliance or family refusal. We recommended contraception pills for one 26‐year‐old woman with inhibin B and FSH levels 53 ng/ml and 6.4 IU/L; however, she refused treatment, conceived spontaneously and had an abortion. Guidelines for hormonal replacement therapy in PWS need to be tailored individually depending on physical development, hormonal profiles, bone density, and emotional and social needs of each PWS adolescent and adult. © 2013 Wiley Periodicals, Inc.
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case
Authors: Perche Olivier , Haddad Georges , Menuet Arnaud , Callier Patrick , Marcos Mélanie , Briault Sylvain , Laudier Béatrice 
Published: August 2013

Abstract“FOXG1 syndrome” includes postnatal microcephaly, severe intellectual disability with absence of language and agenesis of the corpus callosum. When the syndrome is associated with large 14q12q13 deletions, the patients present characteristic facial dysmorphism. Although all reports were based on genomic analysis, recently a FOXG1 regulatory elements deletion, associated with down regulated mRNA, suggested an implication of FOXG1 pathway. Herein, we report on a young boy with a phenotype consistent with a FOXG1 syndrome. He had a de novo translocation t(6;14)(q22.1;q12) associated with a heterozygous 14q12.2q13 deletion encompassing FOXG1. Subsequently, we investigated his transcriptomic profile on lymphoblastoïd cell lines and/or fibroblasts and showed that FOXG1 was commonly down‐regulated. Moreover, several other FOXG1 pathway genes were also disturbed. Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the “FOXG1 syndrome” developmental disorder. © 2013 Wiley Periodicals, Inc.
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
Authors: Dikoglu Esra , Simsek‐Kiper Pelin Ozlem , Utine Gulen Eda , Campos‐Xavier Belinda , Boduroglu Koray , Bonafé Luisa , Superti‐Furga Andrea , Unger Sheila 
Published: August 2013

AbstractCousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15. We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15. © 2013 Wiley Periodicals, Inc.
Porcine small intestine submucosal graft for endoscopic skull base reconstruction
Authors: Illing Elisa , Chaaban Mohamad R. , Riley Kristen O. , Woodworth Bradford A. 
Published: August 2013

BackgroundSkull base defects and encephaloceles of the sinus and nasal cavities are routinely repaired endoscopically using a variety of materials including bone, cartilage, fascia, acellular dermal allografts, and xenografts, with high success rates. However, there is a paucity of data regarding the use of porcine small intestine submucosal (SIS) grafts for endoscopic dural repair. The purpose of the current study was to review outcomes using SIS grafts in the endoscopic reconstruction of skull base defects.MethodsReview of prospectively collected data regarding skull base defect repair using SIS was performed. Demographics, location, and size of skull base defect, method of repair, successful closure, and complications were recorded.ResultsOver 4.5 years, 155 patients (mean age 49 years) underwent 170 primary skull base repairs using porcine SIS. Etiologies included tumor (76), spontaneous (51), trauma (37), and congenital (5). The majority of repairs were in combination with a nasoseptal flap (n = 113). Average defect size (length vs width) was 13 × 10.5 mm. Success rate on first attempt was 94.7% (161/170), and all defects were effectively sealed on subsequent endoscopic revision. The average follow‐up was 77 weeks. Major postoperative complications, including recurrent cerebrospinal fluid (CSF) leak (9), meningitis (1), periorbital cellulitis (1), and invasive fungal sinusitis (1), occurred in 6.4% of individuals with no long‐term sequelae.ConclusionUse of porcine SIS dural graft was associated with excellent outcomes in this study and evidence presented here supports its routine use in the endoscopic closure of skull base defects.
Uniformly Dispersed and Controllable Ligand‐Free Silver‐Nanoparticle‐Decorated TiO2 Nanotube Arrays with Enhanced Photoelectrochemical Behaviors
Authors: Bian Haidong , Shu Xia , Zhang Jianfang , Yuan Bao , Wang Yan , Liu Lingjuan , Xu Guangqing , Chen Zhong , Wu Yucheng 
Published: August 2013

AbstractHomogeneously dispersed silver nanoparticles (AgNPs) were successfully decorated onto the surface of TiO2 nanotube arrays (TNTA) by means of an in situ photoreduction method. TNTA films as supports exhibit excellent properties to prevent agglomeration of AgNPs, and they also avoid using polymer ligands, which is deleterious to enhancing the properties of the fabricated NPs. The silver particle size and its content could be controlled just by changing the immersion time. Detailed SEM and TEM analyses combined with energy‐dispersive X‐ray spectroscopy analyses with different immersion times (5, 10, 30, 60 min) have revealed the variation tendency. The prepared Ag/TNTA composite films were also characterized by XRD, X‐ray photoelectron spectroscopy, and high‐resolution TEM. The UV/Vis diffuse reflectance spectra displayed a redshift of the absorption peak with the growth of AgNPs. The photocurrent response and the photoelectrocatalytic degradation of methyl orange (MO) were used to evaluate the photoelectrochemical properties of the fabricated samples. The results showed that the photocurrent response and photoelectrocatalytic activity largely depended on the loaded Ag particle size and content. TNTA films with a diameter of 17.92 nm and silver content of 1.15 at % showed the highest photocurrent response and degradation rate of MO. The enhanced properties could be attributed to the synergistic effect between AgNPs and TiO2. To make good use of this effect, particle size and silver content should be well controlled to develop the electron charge and discharge process during the photoelectrical process. Neither smaller nor larger AgNPs caused decreased photoelectrical properties.
Reaction of Amines with 8‐MethylthioBODIPY: Dramatic Optical and Laser Response to Amine Substitution
Authors: Esnal Ixone , Urías‐Benavides Arlette , Gómez‐Durán C. F. Azael , Osorio‐Martínez Carlos A. , García‐Moreno Inmaculada , Costela Angel , Bañuelos Jorge , Epelde Nerea , López Arbeloa Iñigo , Hu Rongrong , Zhong Tang Ben , Peña‐Cabrera Eduardo 
Published: August 2013

AbstractA thorough study of the photophysical and laser properties of 8‐aminoboron dipyrromethene dyes was undertaken to determine the role of amine substitution and spatial disposition on the properties of the dyes. It was found that the fluorescent and laser response varied significantly. Although primary amines give rise to highly fluorescent products at the blue edge of the visible region, secondary amines yield nonfluorescent analogues in polar media. The crystal structures of two analogues are reported and described. Steric hindrance and the higher electron‐releasing ability of the amine favor the formation of a quenching intramolecular charge‐transfer state. Accordingly, boron dipyrromethene derivatives with primary amines exhibited laser emission with efficiencies of up to 44 %. Besides, the more efficient derivative was also the most photostable, leading to a significant improvement in the lasing performance with regard to previously reported 8‐aminoboron dipyrromethene derivatives. An increase in the solvent polarity, and mainly the presence of tertiary cyclic amines, led to a dramatic decrease or even the loss of the laser action.
Finite‐Time Tracking Control for Nonholonomic Mobile Robots Based on Visual Servoing
Authors: Ou Meiying , Li Shihua , Wang Chaoli 
Published: August 2013

AbstractThis paper investigates the finite‐time tracking problem of nonholonomic mobile robots in kinematic models via visual servoing in the presence of parametric uncertainties associated with the camera system. First of all, a camera‐objective visual kinematic model is introduced by utilizing the pinhole camera model. Second, a unified tracking error system between the camera‐objective visual servoing model and the desired reference trajectory is introduced. Third, based on the unified error dynamics and by using the finite‐time control method, continuous finite‐time controller laws are designed to solve the finite‐time tracking problem for the mobile robot in the presence of parametric uncertainties associated with the camera system. Rigorous proof shows that the desired reference trajectory can be tracked in finite time. Finally, an example is employed to verify the efficiency of the proposed methods.
Surgical management of disappearing colorectal liver metastases
Authors: Bischof D A , Clary B M , Maithel S K , Pawlik T M 
Published: August 2013

Abstract

Background
Owing to expanded surgical indications for colorectal liver metastasis (CRLM) and improved systemic therapy, hepatic surgeons are increasingly faced with the problem of disappearing (no longer visible on imaging) liver metastasis (DLM).

Methods
A review of relevant studies was performed. Studies that reported on DLM associated with preoperative chemotherapy for CRLM were identified, and data were synthesized and tabulated. The PubMed database was searched for relevant articles published between January 2000 and December 2012.

Results
A complete response on imaging does not necessarily equate with a complete clinical or pathological response. Rather, residual macroscopic disease is found in about 25–45 per cent of patients at the time of operation. Even among patients with a complete pathological response, long-term remission occurs in only 20–50 per cent of those treated with systemic therapy. A durable response of DLM is more common following the use of hepatic artery infusion therapy.

Conclusion
Liver resection should include all original sites of disease if possible.
Substrate Selection Influences Molecular Recognition in a Screen for Lymphoid Tyrosine Phosphatase Inhibitors
Authors: Kulkarni Rhushikesh A. , Vellore Nadeem A. , Bliss Matthew R. , Stanford Stephanie M. , Falk Matthew D. , Bottini Nunzio , Baron Riccardo , Barrios Amy M. 
Published: August 2013

AbstractAssay design is an important variable that influences the outcome of an inhibitor screen. Here, we have investigated the hypothesis that protein tyrosine phosphatase inhibitors with improved biological activity could be identified from a screen by using a biologically relevant peptide substrate, rather than traditional phosphotyrosine mimetic substrates. A 2000‐member library of drugs and drug‐like compounds was screened for inhibitors of lymphoid tyrosine phosphatase (LYP) by using both a peptide substrate (Ac‐ARLIEDNE‐pCAP‐TAREG‐NH2, peptide 1) and a small‐molecule phosphotyrosine mimetic substrate (difluoromethyl umbelliferyl phosphate, DiFMUP). The results demonstrate that compounds that inhibited enzyme activity on the peptide substrate had greater biological activity than compounds that only inhibited enzyme activity on DiFMUP. Finally, epigallocatechin‐3,5‐digallate was identified as the most potent inhibitor of lymphoid tyrosine phosphatase activity to date, with an IC50 of 50 nM and significant activity in T‐cells. Molecular docking simulations provided a first model for binding of this potent inhibitor to LYP; this will constitute the platform for ongoing lead optimization efforts.
Highly Diverse Protein Library Based on the Ubiquitous (β/α)8 Enzyme Fold Yields Well‐Structured Proteins through in Vitro Folding Selection
Authors: Golynskiy Misha V. , Haugner John C. , Seelig Burckhard 
Published: August 2013

AbstractProper protein folding is a prerequisite for protein stability and enzymatic activity. Although directed evolution can be a powerful tool to investigate enzymatic function and to isolate novel activities, well‐designed libraries of folded proteins are essential. In vitro selection methods are particularly capable of searching for enzymatic activities in libraries of trillions of protein variants, yet high‐quality libraries of well‐folded enzymes with such high diversity are lacking. We describe the construction and detailed characterization of a folding‐enriched protein library based on the ubiquitous (β/α)8 barrel fold, which is found in five of the six enzyme classes. We introduced seven randomized loops on the catalytic face of the monomeric, thermostable (β/α)8 barrel of glycerophosphodiester phosphodiesterase (GDPD) from Thermotoga maritima. We employed in vitro folding selection based on protease digestion to enrich intermediate libraries containing three to four randomized loops for folded variants, and then combined them to assemble the final library (1014 DNA sequences). The resulting library was analyzed by using the in vitro protease assay and an in vivo GFP‐folding assay; it contains ∼1012 soluble monomeric protein variants. We isolated six library members and demonstrated that these proteins are soluble, monomeric and show (β/α)8‐barrel fold‐like secondary and tertiary structure. The quality of the folding‐enriched library improved up to 50‐fold compared to a control library that was assembled without the folding selection. To the best of our knowledge, this work is the first example of combining the ultra‐high throughput mRNA display method with selection for folding. The resulting (β/α)8 barrel libraries provide a valuable starting point to study the unique catalytic capabilities of the (β/α)8 fold, and to isolate novel enzymes.
Ligand‐Modified Rhodium Catalysts on Porous Silica in the Continuous Gas‐Phase Hydroformylation of Short‐Chain Alkenes–Catalytic Reaction in Liquid‐Supported Aldol Products
Authors: Schönweiz Andreas , Debuschewitz Jonas , Walter Simon , Wölfel René , Hahn Hanna , Dyballa Katrin M. , Franke Robert , Haumann Marco , Wasserscheid Peter 
Published: August 2013

AbstractLigand‐modified Rh complexes were physically adsorbed on the surface of porous silica. The resulting materials were subjected to the continuous gas‐phase hydroformylation of C2 and C4 alkenes. The ligands used for catalyst modification were bidentate phosphorus ligands known from the literature, namely, sulfoxantphos (1) and a benzopinacol‐based bulky diphosphite 2. The tested catalyst materials were active and, in particular, selective as in comparable homogeneous liquid‐phase experiments. Long‐term stability experiments over 1000 h on stream showed minor deactivation. A significant increase in the catalyst mass after the reaction was detected by weighing and thermogravimetric analysis. By using headspace‐GC–MS, the mass increase could be attributed to high‐boiling compounds, which are formed in situ during the catalytic reaction itself and accumulate inside the pores of the support. Evidence is given that the initially physisorbed catalyst complexes dissolve in the high‐boiling aldol side‐products, which are suitable solvents for the active catalyst species and provide a liquid‐phase environment held by capillary forces on the support.
Specific Detection and Imaging of Enzyme Activity by Signal‐Amplifiable Self‐Assembling 19F MRI Probes
Authors: Matsuo Kazuya , Kamada Rui , Mizusawa Keigo , Imai Hirohiko , Takayama Yuki , Narazaki Michiko , Matsuda Tetsuya , Takaoka Yousuke , Hamachi Itaru 
Published: August 2013

AbstractSpecific turn‐on detection of enzyme activities is of fundamental importance in drug discovery research, as well as medical diagnostics. Although magnetic resonance imaging (MRI) is one of the most powerful techniques for noninvasive visualization of enzyme activity, both in vivo and ex vivo, promising strategies for imaging specific enzymes with high contrast have been very limited to date. We report herein a novel signal‐amplifiable self‐assembling 19F NMR/MRI probe for turn‐on detection and imaging of specific enzymatic activity. In NMR spectroscopy, these designed probes are “silent” when aggregated, but exhibit a disassembly driven turn‐on signal change upon cleavage of the substrate part by the catalytic enzyme. Using these 19F probes, nanomolar levels of two different target enzymes, nitroreductase (NTR) and matrix metalloproteinase (MMP), could be detected and visualized by 19F NMR spectroscopy and MRI. Furthermore, we have succeeded in imaging the activity of endogenously secreted MMP in cultured media of tumor cells by 19F MRI, depending on the cell lines and the cellular conditions. These results clearly demonstrate that our turn‐on 19F probes may serve as a screening platform for the activity of MMPs.
General One‐Pot Reductive gem‐Bis‐Alkylation of Tertiary Lactams/Amides: Rapid Construction of 1‐Azaspirocycles and Formal Total Synthesis of (±)‐Cephalotaxine
Authors: Xiao Kai‐Jiong , Luo Jie‐Min , Xia Xiao‐Er , Wang Yu , Huang Pei‐Qiang 
Published: August 2013

AbstractAmides are a class of highly stable and readily available compounds. The amide functional group constitutes a class of powerful directing/activating and protecting group for CC bond formation. Tertiary tert‐alkylamine, including 1‐azaspirocycle is a key structural feature found in many bioactive natural products and pharmaceuticals. The transformation of amides into tert‐alkylamines generally requires several steps. In this paper, we report the full details of the first general method for the direct transformation of tertiary lactams/amides into tert‐alkylamines. The method is based on in situ activation of amide with triflic anhydride/2,6‐di‐tert‐butyl‐4‐methylpyridine (DTBMP), followed by successive addition of two organometallic reagents of the same or different kinds to form two CC bonds. Both alkyl and functionalized organometallic reagents and enolates can be used as the nucleophiles. The method displayed excellent 1,2‐ and good 1,3‐asymmetric induction. Construction of 1‐azaspirocycles from lactams required only two steps or even one‐step by direct spiroannelation of lactams. The power of the method was demonstrated by a concise formal total synthesis of racemic cephalotaxine.