bluuebunny/crossref_metadata_2025 huggingface dataset:
Targeted Intervention to Improve Monitoring of Antipsychotic-Induced Weight Gain and Metabolic Disturbance in First Episode Psychosis
Authors: Thompson Andrew , Hetrick Sarah E. , Álvarez-Jiménez Mario , Parker Alexandra G. , Willet Michaela , Hughes Frank , Gariup Maria , Gomez David Lopez , McGorry Patrick D.
Published: August 2011

Objective: International guidelines recommend monitoring for weight gain and metabolic disturbance in patients prescribed second generation antipsychotics. We aimed to investigate whether a targeted intervention could improve levels of monitoring in a first episode psychosis clinic.

Method: A pre-intervention audit of both metabolic screening rates and specific monitoring of weight and metabolic indices following the initiation of antipsychotic medication was performed in our first episode psychosis clinic. This was repeated 18 months later, following an intervention that included a number of targeted improvement strategies based on an analysis of barriers and enablers to performing monitoring within the clinic. The intervention included provision of monitoring equipment, interactive educational events, reminders and prompts and embedding processes for monitoring within team structure.

Results: There were significant improvements in both the screening of metabolic indices and the monitoring of indices following initiation of antipsychotic medications. There were also improvements in the number of active interventions offered to clients by clinicians. However, the level of guideline concordant monitoring remains low within our service.

Conclusions: A comprehensive programme of implementation strategies can improve both screening and monitoring of the metabolic side-effects of antipsychotic medications. Further focused strategies are necessary to continue to improve monitoring to guideline concordant levels.
Inflammation-Related Carcinogenesis and Prevention in Esophageal Adenocarcinoma Using Rat Duodenoesophageal Reflux Models
Authors: Fujimura Takashi , Oyama Katsunobu , Sasaki Shozo , Nishijima Koji , Miyashita Tomoharu , Ohta Tetsuo , Miwa Koichi , Hattori Takanori
Published: August 2011

Development from chronic inflammation to Barrett’s adenocarcinoma is known as one of the inflammation-related carcinogenesis routes. Gastroesophageal reflux disease induces regurgitant esophagitis, and esophageal mucosa is usually regenerated by squamous epithelium, but sometimes and somewhere replaced with metaplastic columnar epithelium. Specialized columnar epithelium, so-called Barrett’s epithelium (BE), is a risk factor for dysplasia and adenocarcinoma in esophagus. Several experiments using rodent model inducing duodenogastroesophageal reflux or duodenoesophageal reflux revealed that columnar epithelium, first emerging at the proliferative zone, progresses to dysplasia and finally adenocarcinoma, and exogenous carcinogen is not necessary for cancer development. It is demonstrated that duodenal juice rather than gastric juice is essential to develop esophageal adenocarcinoma in not only rodent experiments, but also clinical studies. Antireflux surgery and chemoprevention by proton pump inhibitors, nonsteroidal anti-inflammatory drugs, selective cyclooxygenase-2 inhibitors, green tea, retinoic acid and thioproline showed preventive effects on the development of Barrett’s adenocarcinoma in rodent models, but it remains controversial whether antireflux surgery could regress BE and prevent esophageal cancer in clinical observation. The Chemoprevention for Barrett's Esophagus Trial (CBET), a phase IIb, multicenter, randomized, double-masked study using celecoxib in patients with Barrett's dysplasia failed to prove to prevent progression of dysplasia to cancer. The AspECT (Aspirin Esomeprazole Chemoprevention Trial), a large multicenter phase III randomized trial to evaluate the effects of esomeprazole and/or aspirin on the rate of progression to high-grade dysplasia or adenocarcinoma in patients with BE is now ongoing.
Are Adult Crambid Snout Moths (Crambinae) and Larval Stages of Lepidoptera Suitable Tools for an Environmental Monitoring of Transgenic Crops? — Implications of a Field Test
Authors: Lang Andreas , Dolek Matthias , Theißen Bernhard , Zapp Andreas
Published: August 2011

Butterflies and moths (Lepidoptera) have been suggested for the environmental monitoring of genetically modified (GM) crops due to their suitability as ecological indicators, and because of the possible adverse impact of the cultivation of current transgenic crops. The German Association of Engineers (VDI) has developed guidelines for the standardized monitoring of Lepidoptera describing the use of light traps for adult moths, transect counts for adult butterflies, and visual search for larvae. The guidelines suggest recording adults of Crambid Snout Moths during transect counts in addition to butterflies, and present detailed protocols for the visual search of larvae. In a field survey in three regions of Germany, we tested the practicability and effort-benefit ratio of the latter two VDI approaches. Crambid Snout Moths turned out to be suitable and practical indicators, which can easily be recorded during transect counts. They were present in 57% of the studied field margins, contributing a substantial part to the overall Lepidoptera count, thus providing valuable additional information to the monitoring results. Visual search of larvae generated results in an adequate effort-benefit ratio when searching for lepidopteran larvae of common species feeding on nettles. Visual search for larvae living on host plants other than nettles was time-consuming and yielded much lower numbers of recorded larvae. Beating samples of bushes and trees yielded a higher number of species and individuals. This method is especially appropriate when hedgerows are sampled, and was judged to perform intermediate concerning the relationship between invested sampling effort and obtained results for lepidopteran larvae. In conclusion, transect counts of adult Crambid Moths and recording of lepidopteran larvae feeding on nettles are feasible additional modules for an environmental monitoring of GM crops. Monitoring larvae living on host plants other than nettles and beating samples of bushes and trees can be used as a supplementary tool if necessary or desired.
Metabolic Agents that Enhance ATP can Improve Cognitive Functioning: A Review of the Evidence for Glucose, Oxygen, Pyruvate, Creatine, and l-Carnitine
Authors: Owen Lauren , Sunram-Lea Sandra I.
Published: August 2011

Over the past four or five decades, there has been increasing interest in the neurochemical regulation of cognition. This field received considerable attention in the 1980s, with the identification of possible cognition enhancing agents or “smart drugs”. Even though many of the optimistic claims for some agents have proven premature, evidence suggests that several metabolic agents may prove to be effective in improving and preserving cognitive performance and may lead to better cognitive aging through the lifespan. Aging is characterized by a progressive deterioration in physiological functions and metabolic processes. There are a number of agents with the potential to improve metabolic activity. Research is now beginning to identify these various agents and delineate their potential usefulness for improving cognition in health and disease. This review provides a brief overview of the metabolic agents glucose, oxygen, pyruvate, creatine, and l-carnitine and their beneficial effects on cognitive function. These agents are directly responsible for generating ATP (adenosine triphosphate) the main cellular currency of energy. The brain is the most metabolically active organ in the body and as such is particularly vulnerable to disruption of energy resources. Therefore interventions that sustain adenosine triphosphate (ATP) levels may have importance for improving neuronal dysfunction and loss. Moreover, recently, it has been observed that environmental conditions and diet can affect transgenerational gene expression via epigenetic mechanisms. Metabolic agents might play a role in regulation of nutritional epigenetic effects. In summary, the reviewed metabolic agents represent a promising strategy for improving cognitive function and possibly slowing or preventing cognitive decline.
16-Gy Low-Voltage X-ray Irradiation With Ranibizumab Therapy for AMD: 6-Month Safety and Functional Outcomes
Authors: Canton Virgilio Morales , Quiroz-Mercado Hugo , Velez-Montoya Raul , Lopez-Miranda Miriam J. , Moshfeghi Andrew A. , Shusterman Eugene M. , Kaiser Peter K. , Sanislo Steven R. , Gertner Michael , Moshfeghi Darius M.
Published: August 2011

BACKGROUND AND OBJECTIVE:

To describe the 6-month safety and preliminary efficacy outcomes of the use of 16-Gy radiation with intravitreal ranibizumab for patients with neovascular age-related macular degeneration (AMD).

PATIENTS AND METHODS:

A single treatment of a non-invasive, externally delivered low-voltage 16-Gy x-ray irradiation was administered in one session through three locations in the inferior pars plana. Optical coherence tomography (OCT) and Early Treatment Diabetic Retinopathy Study (ETDRS) visual acuity (VA) examinations were performed at 1 week, 1 month, and monthly thereafter, with quarterly fluorescein angiography (FA). After the two initial ranibizumab injections, subsequent injections were administered according to the following criteria: VA decline of 10 ETDRS letters compared with baseline, increase of 100-μm central foveal thickness on OCT compared with baseline, the development of new submacular hemorrhage, and the development of a new area of classic choroidal neovascularization on FA.

RESULTS:

Twenty-six patients completed a 6-month follow-up. There was no evidence of radiation retinopathy, optic neuropathy, or cataract. The mean baseline ETDRS score was 46.6 letters (range: 5 to 80; standard deviation [SD]: 21.5). At 6 months, the corresponding ETDRS score was 55.6 letters (range: 25 to 80; SD: 18.9) and the mean change in VA was 9.5 ETDRS letters (SD: 10.3). On responder analysis, 96% lost 15 or fewer ETDRS letters, 81% gained 0 or more ETDRS letters, and 50% gained 15 or more ETDRS letters. Patients received a total of 13 ranibizumab injections following two initial injections. At 6 months, patients received an average of 0.5 additional injections following the initial two mandated injections.

CONCLUSION:

A single treatment of externally applied, non-invasive 16-Gy low-voltage x-ray therapy in conjunction with ranibizumab demonstrated an overall improvement of VA in patients with neovascular AMD at 6 months with no radiation-related adverse effects.
Light at the End of the Tunnel: A Technical Note on Thoracoscopic Repair of Congenital Diaphragmatic Hernia
Authors: Jackson Claire R. , MacKinlay Gordan A. , McHoney Merrill
Published: August 2011

Thoracoscopic repair of congenital diaphra­gmatic hernia (CDH) has been described by a number of authors and is increasingly widely practiced. We present a technical learning point. CDH is associated with the presence of a hernia sac in around 20% of all cases. In this case the presence of a ruptured hernia sac complicated the thoracoscopic repair of a left sided CDH, as it was initially difficult to recognise. Once the anatomy was clarified the repair was satisfactorily completed and the child made a rapid postoperative recovery. This technical note is to warn other surgeons that a tunnel like appearance of the diaphragmatic defect may in fact be due to the presence of a torn hernia sac, which requires excision before closure of the defect.
Analysis of Free Text with Omaha System Targets in Community-Based Care to Inform Practice and Terminology Development
Authors: Farri O. , Monsen K.A. , Westra B.L. , Melton G.B.
Published: August 2011

The Omaha system is one of the most widely used interface terminologies for documentation of community-based care. It is influential in disseminating evidence-based practice and generating data for health care quality research. Thus, it is imperative to ensure that the Omaha system reflects current health care knowledge and practice. The purpose of this study was to evaluate free text associated with Omaha system terms to inform issues with electronic health record system use and future Omaha system standard development. Two years of client records from two diverse sites (a skilled homecare, hospice, and palliative care program and a maternal child health home visiting program) were analyzed for the use of free text as a component of the intervention when structured targets for interventions were not identified. Intervention text entries very commonly contained duplicate “carry forward entries”, multiple concepts, mismatched problem focus, or failure to identify an existing appropriate target. Our findings support the need to better address education gaps for clinicians. We identified additional suggested targets for Omaha system problems, and propose new targets for consideration in future Omaha system revisions.
Electronic Medical Records and Cost Efficiency in Hospital Medical-Surgical Units
Authors: Furukawa Michael F. , Raghu T. S. , Shao Benjamin B. M.
Published: August 2011

This study examines the impact of electronic medical records (EMRs) on cost efficiency in hospital medical-surgical units. Using panel data on California hospitals from 1998 to 2007, we employed stochastic frontier analysis (SFA) to estimate the relationships between EMR implementation and the cost inefficiency of medical-surgical units. We categorized EMR implementation into three stages based on the level of sophistication. We also examined the effects of specific EMR systems on cost inefficiency. Our SFA models addressed potential bias from unobserved heterogeneity and heteroskedasticity. EMR Stages 1 and 2, nursing documentation, electronic medication administration records, and clinical decision support were associated with significantly higher inefficiency.
Low-Income Medicare Beneficiaries and Their Experiences with the Part D Prescription Drug Benefit
Authors: Rudolph Noemi V. , Montgomery Melissa A.
Published: August 2011

This study seeks to understand how much beneficiaries knew about the Medicare prescription drug benefit (Part D) and low-income subsidy (LIS) programs and what their experiences were with the programs. Part D enrollees who automatically qualified for the LIS were less likely to report awareness that they could switch among different plans, had lower knowledge scores, and were more likely to have medications not covered by the plan compared to beneficiaries who applied for the LIS and others who enrolled in Part D but did not receive the LIS. Communication efforts to the LIS population, particularly for beneficiaries deemed automatically eligible for the LIS, need to continually make them aware of their benefits and protections in Part D.
Hospital Mergers and Referrals in the United States: Patient Steering or Integrated Delivery of Care?
Authors: Nakamura Sayaka
Published: August 2011

Many tertiary care hospitals (acquirers) acquire non-tertiary care hospitals (targets), and some of these mergers lead to a significant increase in referrals from the target to the acquirer. This study examines the hospitals' motives for integration and for increasing referrals using hospital discharge data from the Pittsburgh area. I develop and estimate a model of referral choice based on a reputation mechanism. The results suggest that low- or average-quality acquirers exploit their targets' monopoly power to steer patients to the acquirers. Distinguished acquirers, on the other hand, seem to have motives other than patient steering, including the integrated delivery of care.
Is forest management a significant source of monoterpenes into the boreal atmosphere?
Authors: Haapanala S. , Hakola H. , Hellén H. , Vestenius M. , Levula J. , Rinne J.
Published: August 2011

Abstract. Volatile organic compounds (VOCs) including terpenoids are emitted into the atmosphere from various natural sources. Damaging the plant tissue is known to strongly increase their monoterpene release. We measured the terpenoid emissions caused by timber felling, i.e. those from stumps and logging residue. The emissions from stumps were studied using enclosures and those from the whole felling area using an ecosystem scale micrometeorological method, disjunct eddy accumulation (DEA). The compounds analyzed were isoprene, monoterpenes and sesquiterpenes. Strong emissions of monoterpenes were measured from both the stumps and from the whole felling area. The emission rate fell down rapidly within few months after the logging. In addition to fresh logging residue, the results suggest also other strong monoterpene sources to be present at the felling area. Those could include pre-existing litter, increased microbial activity and remaining undergrowth. To evaluate the possible importance of monoterpenes emitted from cut Scots pine forests in Finland annually, we conducted a rough upscaling. The resulting monoterpene release was about 15 kilotonnes per year which is more than 10 % of the monoterpene release from intact forests in Finland.
Nonatonic Obstetric Haemorrhage: Effectiveness of the Nonpneumatic Antishock Garment in Egypt
Authors: Fathalla Mohamed M. F. , Youssif Mohammed Mourad , Meyer Carinne , Camlin Carol , Turan Janet , Morris Jessica , Butrick Elizabeth , Miller Suellen
Published: August 2011

The study aims to determine if the nonpneumatic antishock garment (NASG), a first aid compression device, decreases severe adverse outcomes from nonatonic obstetric haemorrhage. Women with nonatonic aetiologies (434), blood loss > 1000 mL, and signs of shock were eligible. Women received standard care during the preintervention phase (226) and standard care plus application of the garment in the NASG phase (208). Blood loss and extreme adverse outcomes (EAO-mortality and severe morbidity) were measured. Women who used the NASG had more estimated blood loss on admission. Mean measured blood loss was 370 mL in the preintervention phase and 258 mL in the NASG phase (P<0.0001). EAO decreased with use of the garment (2.9% versus 4.4%, (OR 0.65, 95% CI 0.24–1.76)). In conclusion, using the NASG improved maternal outcomes despite the worse condition on study entry. These findings should be tested in larger studies.
Highly Active Metal‐Free Catalysts for Hydrogenation of Unsaturated Nitrogen‐Containing Compounds
Authors: Sumerin Victor , Chernichenko Konstantin , Nieger Martin , Leskelä Markku , Rieger Bernhard , Repo Timo
Published: August 2011

New highly active ansa‐ammonium borate catalysts for the direct metal‐free hydrogenation of imines were prepared by tuning of the basicity and steric bulkiness of their amine moieties. The highest catalytic activity among previously reported organocatalytic systems was shown for a wide range of nitrogen‐containing substrates. The first example of asymmetric imine hydrogenation based on the ansa‐ammonium borate concept was demonstrated. Furthermore, effective catalyst recovery by extraction of the acidic solution with an organic solvent followed by dehydration with TMSBr was elaborated. The initial findings highlight the development of more effective chiral ansa‐ammonium borates for enantioselective hydrogenation. Therefore, the progress achieved in the ansa‐ammonium borate concept makes it very promising for further elaboration with the aim to obtain industrially applicable catalysts.
Manganese(III)‐Promoted Tandem Oxidation and Cyclization of β‐Keto Ester Derivatives of Terpenoids
Authors: Li Zhilong , Jung Heejung , Park Mira , Lah Myoung Soo , Koo Sangho
Published: August 2011

A new type of terpenoid cyclization directed by a β‐keto ester moiety has been developed, which proceeded by manganese(III)‐initiated oxidation of the β‐keto ester, followed by an intramolecular hetero Diels–Alder reaction with the terpenoid chain. This reaction produces polycyclic dihydropyrans in high yields and stereoselectivities under mild conditions.
Catalyst‐Controlled Diastereoselection in the Hydrogenation of Heterocycloalkyl Ketones
Authors: Akashi Masaya , Arai Noriyoshi , Inoue Tsutomu , Ohkuma Takeshi
Published: August 2011

α‐Substituted chiral ketones that have small steric and electronic differences around the reaction sites are difficult substrates to reduce with high diastereoselectivity. Metal hydride reduction of 2‐(4‐benzoylmorpholinyl) phenyl ketone and 3‐(1‐tert‐butoxycarbonylpiperidinyl) phenyl ketone using sodium borohydride, zinc borohydride, and potassium tri‐sec‐butylborohydride as reducing agents affords the syn‐ and anti‐alcohols in a lower than 80:20 ratio. Hydrogenation of these ketones with a catalyst system of RuCl2(BIPHEP)(DMEN) and potassium tert‐butoxide in 2‐propanol results in the syn‐alcohols with ≥ 99:1 selectivity [BIPHEP=2,2′‐bis(diphenylphosphino)biphenyl, DMEN=N,N‐dimethylethylenediamine]. The marked difference in the diastereoselectivity suggests that the stereoselection in this hydrogenation is primarily regulated by the structure of the catalyst’s reaction field (“catalyst‐controlled diastereoselection”) but not the internal stereocontrol of the substrates. This chemistry is applied to the asymmetric hydrogenation through dynamic kinetic resolution with a RuCl2[(S)‐BINAP][(R)‐DMAPEN]/potassium tert‐butoxide catalyst [BINAP=2,2′‐bis(diphenylphosphino)‐1,1′‐binaphthyl, DMAPEN=2‐dimethylamino‐1‐phenylethylamine]. A series of aryl heterocycloalkyl ketones has been converted to the alcohols in excellent diastereo‐ and enantioselectivities. The modes of catalyst‐controlled diastereoselection and enantioselection are interpreted by using transition‐state molecular models. (S,S)‐Reboxetine, a selective norepinephrine uptake inhibitor, was synthesized from one of product alcohols.
Graphene–Cellulose Paper Flexible Supercapacitors
Authors: Weng Zhe , Su Yang , Wang Da‐Wei , Li Feng , Du Jinhong , Cheng Hui‐Ming
Published: August 2011

A simple and scalable method to fabricate graphene‐cellulose paper (GCP) membranes is reported; these membranes exhibit great advantages as freestanding and binder‐free electrodes for flexible supercapacitors. The GCP electrode consists of a unique three‐dimensional interwoven structure of graphene nanosheets and cellulose fibers and has excellent mechanical flexibility, good specific capacitance and power performance, and excellent cyclic stability. The electrical conductivity of the GCP membrane shows high stability with a decrease of only 6% after being bent 1000 times. This flexible GCP electrode has a high capacitance per geometric area of 81 mF cm−2, which is equivalent to a gravimetric capacitance of 120 F g−1 of graphene, and retains >99% capacitance over 5000 cycles. Several types of flexible GCP‐based polymer supercapacitors with various architectures are assembled to meet the power‐energy requirements of typical flexible or printable electronics. Under highly flexible conditions, the supercapacitors show a high capacitance per geometric area of 46 mF cm−2 for the complete devices. All the results demonstrate that polymer supercapacitors made using GCP membranes are versatile and may be used for flexible and portable micropower devices.
Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion
Authors: Blinder Joshua J. , Martinez Hugo R. , Craigen William J. , Belmont John , Pignatelli Ricardo H. , Jefferies John L.
Published: August 2011

Interstitial deletion of chromosome 8p23.1 has been reported in patients with congenital heart defects, including atrial and ventricular septal defects, pulmonary stenosis, and complex cyanotic heart defects. GATA4, a zinc‐finger transcription factor gene, has been localized to this region. GATA4 interacts with additional transcription factors in the embryogenesis of the primitive heart tube. Mutations in GATA4 are thought to be responsible for the congenital heart defects reported in association with this chromosomal deletion, and several familial point mutations leading to amino acid substitutions have also been identified. Left ventricular noncompaction (LVNC) is a clinically heterogeneous disorder characterized by LV myocardial trabeculations and intertrabecular recesses that communicate with the LV cavity. Patients may be asymptomatic or may present with evidence of severely depressed LV systolic and diastolic function. The LV may be dilated or hypertrophied, and clinical expression may be undulating. Several genetic causes of LVNC have been reported, with variable modes of inheritance, including autosomal dominant and X‐linked inheritance, but relatively few responsible genes have been identified. A 12‐year‐old boy with a history of acute lymphoblastic leukemia, dysmorphic features, and LVNC with preserved LV systolic function was referred to the Cardiovascular Genetics Clinic at our institution. The patient was asymptomatic in terms of cardiovascular function. Chromosome microarray testing revealed an interstitial deletion in the region of 8p23.1 containing GATA4. LVNC has not been reported previously in association with this chromosome deletion. Further investigation into the role of GATA4 in patients with LVNC is warranted. © 2011 Wiley‐Liss, Inc.
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
Authors: Gripp Karen W. , Stabley Deborah L. , Geller Peter L. , Hopkins Elizabeth , Stevenson David A. , Carey John C. , Sol‐Church Katia
Published: August 2011

Costello syndrome was first reported based on its characteristic phenotype. Its presentation affects multiple organ systems, including severe failure‐to‐thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. Heterozygous germline mutations in the proto‐oncogene HRAS have been recognized to cause Costello syndrome, and its inheritance pattern would thus be autosomal dominant. Here, we report on the identification of an HRAS mutation c.34G>A, predicting a p.G12S amino acid substitution, in the surviving brother of a previously reported sibling pair, and documentation of the same change in autopsy material from his deceased sister. This represents, to our knowledge, the first molecularly confirmed Costello syndrome in siblings. We did not detect the mutation in a heterozygous state or mosaicism in peripheral white blood cell or cheek swab‐derived DNA samples from either parent. Using single nucleotide polymorphic markers and allele‐specific amplification, we clearly identified the mutation in the surviving sibling to be of maternal origin. While we cannot exclude two independently occurring de novo mutations, the complete sharing of polymorphic markers around the mutation site in both siblings supports maternal germ cell mosaicism. Recurrence risk counseling for families with apparently de novo occurring autosomal dominant conditions includes discussion of germ cell mosaicism, and this report underscores the applicability of this concern to Costello syndrome. © 2011 Wiley‐Liss, Inc.
Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person
Authors: Fickie Matthew R. , Lapunzina Pablo , Gentile Jennifer K. , Tolkoff‐Rubin Nina , Kroshinsky Daniela , Galan Enrique , Gean Esther , Martorell Loreto , Romanelli Valeria , Toral Joaquín Fernandez , Lin Angela E.
Published: August 2011

Sotos syndrome is a well‐described multiple anomaly syndrome characterized by overgrowth, distinctive craniofacial appearance, and variable learning disabilities. The diagnosis of Sotos syndrome relied solely on these clinical criteria until haploinsufficiency of the NSD1 gene was identified as causative. We describe a 63‐year‐old woman with classic features and a pathogenic NSD1 mutation, who we believe to be the oldest reported person with Sotos syndrome. She is notable for the diagnosis of Sotos syndrome late in life, mild cognitive limitation, and chronic kidney disease attributed to fibromuscular dysplasia for which she recently received a transplant. She has basal cell and squamous cell carcinoma for which her lifetime of sun exposure and fair cutaneous phototype are viewed as risk factors. We also reviewed previous literature reports (n = 11) for adults with Sotos syndrome, and studied patients ascertained in the Spanish Overgrowth Syndrome Registry (n = 15). Analysis was limited to 21/27 (78%) total patients who had molecular confirmation of Sotos syndrome (15 with a mutation, 6 with a microdeletion). With a mean age of 26 years, the most common features were learning disabilities (90%), scoliosis (52%), eye problems (43%), psychiatric issues (30%), and brain imaging anomalies (28%). Learning disabilities were more severe in patients with a microdeletion than in those with a point mutation. From this small study with heterogeneous ascertainment we suggest modest adjustments to the general healthcare monitoring of individuals with Sotos syndrome. Although this series includes neoplasia in four cases, this should not be interpreted as incidence. Age‐appropriate cancer surveillance should be maintained. © 2011 Wiley‐Liss, Inc.
Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance
Authors: Kiper Pelin Özlem Şimşek , Utine Gülen Eda , Boduroğlu Koray , Alanay Yasemin
Published: August 2011

We describe a 3‐month‐old male infant with cleft palate, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of Catel–Manzke syndrome. In addition, the patient had ligamentous laxity in the knee which is a rare finding of this syndrome. The mode of inheritance of Catel–Manzke syndrome is unknown. Most cases are thought to be sporadic but the present patient with consanguinity between the parents and a possibly affected sib provide support for autosomal recessive inheritance. © 2011 Wiley‐Liss, Inc.
Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome
Authors: Shimojima Keiko , Okanishi Tohru , Yamamoto Toshiyuki
Published: August 2011

Sotos syndrome is a rare genetic disorder characterized by overgrowth associated with macrocephaly and delayed psychomotor development. Patients with Sotos syndrome show 5q35 deletions involving NSD1 or its point mutations. We identified the common 5q35 deletion in a patient with atypical Sotos syndrome manifesting extremely severe developmental delay, joint hypermobility, and skin hyperextensibility, which are recognized as Marfanoid hypermobility syndrome. Further analyses were performed to identify the genetic cause of these additional findings. aCGH analysis revealed an additional 862 kb deletion of Xq22.3 in this patient, which was inherited from his healthy mother. The deleted region included five genes, including the nik‐related kinase gene (NRK), which would be a candidate gene for the patient's Marfanoid hypermobility, because it is a member of the glucokinase subfamily that are involved in activating the JNK pathway, and is expressed in developing skeletal musculature. Severe developmental delay seen in the patient may be derived from position effect of the deletion for neighboring interleukin 1 receptor accessory protein‐like 2 gene (IL1RAPL2), which is a candidate gene for X‐linked mental retardation. © 2011 Wiley‐Liss, Inc.
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot
Authors: Weymouth Katelyn S. , Blanton Susan H. , Bamshad Michael J. , Beck Anita E. , Alvarez Christine , Richards Steve , Gurnett Christina A. , Dobbs Matthew B. , Barnes Douglas , Mitchell Laura E. , Hecht Jacqueline T.
Published: August 2011

Isolated clubfoot is a relatively common birth defect that affects approximately 4,000 newborns in the US each year. Calf muscles in the affected leg(s) are underdeveloped and remain small even after corrective treatment. This observation suggests that variants in genes that influence muscle development are priority candidate risk factors for clubfoot. This contention is further supported by the discovery that mutations in genes that encode components of the muscle contractile complex (MYH3, TPM2, TNNT3, TNNI2, and MYH8) cause congenital contractures, including clubfoot, in distal arthrogryposis (DA) syndromes. Interrogation of 15 genes encoding proteins that control myofiber contractility in a cohort of both non‐Hispanic White (NHW) and Hispanic families, identified positive associations (P < 0.05) with SNPs in 12 genes; only 1 was identified in a family‐based validation dataset. Six SNPs in TNNC2 deviated from Hardy–Weinberg equilibrium in mothers in our NHW discovery dataset. Relative risk and likelihood ratio tests showed evidence for a maternal genotypic effect with TNNC2/rs383112 and an inherited/child genotypic effect with two SNPs, TNNC2/rs4629 and rs383112. Associations with multiple SNPs in TPM1 were identified in the NHW discovery (rs4075583, P = 0.01), family‐based validation (rs1972041, P = 0.000074), and case–control validation (rs12148828, P = 0.04) datasets. Gene interactions were identified between multiple muscle contraction genes with many of the interactions involving at least one potential regulatory SNP. Collectively, our results suggest that variation in genes that encode contractile proteins of skeletal myofibers may play a role in the etiology of clubfoot. © 2011 Wiley‐Liss, Inc.
Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.
Authors: Pan Yongchu , Zhang Weibing , Du Yifei , Tong Na , Han Yue , Zhang Hongchuang , Wang Meilin , Ma Junqing , Wan Linzhon , Wang Lin
Published: August 2011

Nonsyndromic orofacial clefts (NSOC) are the most common developmental anomalies in human beings. Recently, a large‐scale genome‐wide association study identified two novel NSOC susceptibility loci: rs13041247 nearMAFBand rs560426 nearABCA4. In the present study, we recruited 396 NSOC cases and 384 healthy controls to replicate their associations with risk of NSOC as well as their subgroups in a Chinese Han population. We found the overall genotype and allele frequencies of rs13041247, but not rs560426 were significantly different between cases and controls. Further logistic regression analysis showed rs13041247 CT, CC, and CT/CC were associated with decreased NSOC susceptibility, compared with rs13041247 TT wide‐type homozygote. Moreover, the apparent protection against cleft lip with or without cleft palate (CL/P), cleft lip with cleft palate (CLP), and cleft lip only (CLO) was also identified in stratified analysis. However, none of any rs560426 genotypes or alleles was associated with risk of NSOC or their subgroups. Taken together, our findings confirmed the contribution ofMAFBin the etiology of NSOC in a Chinese Han population. © 2011 Wiley‐Liss, Inc.
Chromosome 22q11.2 deletion syndrome in African‐American patients: A diagnostic challenge
Authors: Veerapandiyan Aravindhan , Abdul‐Rahman Omar A. , Adam Margaret P. , Lyons Michael J. , Manning Melanie , Coleman Karlene , Kobrynski Lisa , Taneja Deeksha , Schoch Kelly , Zimmerman Holly H. , Shashi Vandana
Published: August 2011

Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with numerous and variable clinical manifestations including conotruncal heart abnormalities, palatal anomalies, hypoparathyroidism, immune deficiency, and cognitive deficits. The clinical suspicion of this syndrome is often heightened by the presence of characteristic facial features. A previous report highlighted the under‐diagnosis of this condition in African Americans, thought to be related to a paucity of typical facial features. We ascertained the largest cohort (n = 50) of African‐American individuals with 22q11DS reported thus far, across five genetics centers in the United States and report on their facial and other phenotypic features. About ${\raise0.5ex\hbox{$\scriptstyle 3$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {4}$}}$ of our cohort has at least one dysmorphic facial feature. Auricular abnormalities, especially small ears, are the most common dysmorphic facial feature followed by nasal and ocular abnormalities. Skeletal findings are seen in about 2/3 of our cohort, higher than the typical frequency reported in 22q11DS. Cardiac anomalies, developmental delay, and palatal abnormalities are seen at a lower frequency in our cohort. Thus, it is evident that the features traditionally associated with 22q11DS are difficult to recognize in African‐American individuals with this syndrome, due to both altered frequencies of major anomalies and a non‐classic facial appearance. Therefore, a high index of suspicion is needed to recognize 22q11DS in African‐American individuals. © 2011 Wiley‐Liss, Inc.
Synthesis, Spectroscopic Characterization, Antimicrobial, Pesticidal and Nematicidal Activity of Some Nitrogen‐Oxygen and Nitrogen‐Sulfur donor Coumarins based Ligands and their Organotin(IV) Complexes
Authors: Dawara Latika , Singh R.V.
Published: August 2011

Series of new tin complexes are synthesized by classical thermal and microwave‐irradiated techniques. The biologically potent ligands 3‐formyl‐4‐chlorocoumarin semicarbazone (L1H) and 3‐formyl‐4‐chlorocoumarin thiosemicarbazone (L2H), were prepared by the condensation of semicarbazide hydrochloride and thiosemicarbazide in ethanol with the particular ketone by using microwave as well as conventional methods. The tin(IV) complexes have been prepared by mixing Ph3SnCl/Me3SnCl/Me2SnCl2 in 1:1 and 1:2 molar ratios with monofunctional bidentate ligands. The structures of the ligands and their tin complexes were confirmed by the elemental analysis, melting point determinations, molecular weight determinations, IR, 1H NMR, 13C NMR, 119Sn NMR, UV, mass spectral and X‐ray powder diffraction studies. On the basis of these studies it is clear that the ligands coordinated to the metal atom in a monobasic bidentate mode, by X$^{\cap}$ N donor system. Thus, suitable trigonal bipyramidal geometry for penta‐coordinated state and octahedral geometry for hexa‐coordinated state have been suggested for the 1:1 and 1:2 metal compounds. Both the ligands and their complexes have been screened for their antimicrobial, pesticidal and nematicidal activities. Copyright © 2011 John Wiley & Sons, Ltd.
DNA interaction, free radical scavenging andin‐vitroantibacterial activity of drug‐based copper(II) complexes
Authors: Patel Mohan N. , Dosi Promise A. , Bhatt Bhupesh S.
Published: August 2011

The Cu(II) complexes of type [Cu(cpf)(An)Cl] (An= terpyridines, cpf = ciprofloxacin) were synthesized and characterized using IR, mass and reflectance spectra. The free ligands and their complexes were evaluated for theirin‐vitroantimicrobial activity against a panel of Gram‐positive and Gram‐negative bacteria. The complexes exhibit better or equal inhibition in comparison to free fluoroquinolones. Binding interactions of the complexes with calf thymus (CT DNA) were investigated by absorption titration, viscosity studies and DNA melting temperature experiment. The cleavage reaction on pUC19 DNA was monitored by agarose gel electrophoresis. The lower concentration of the complexes was catalysed the dismutation of superoxide radical at biological pH, which indicates that the complexes can act as a possible model for superoxide dismutase. Copyright © 2011 John Wiley & Sons, Ltd.
Synthesis and biological evaluation of a novel 99mTc‐cyclopentadienyltricarbonyl technetium complex as a new potential brain perfusion imaging agent
Authors: Malek‐Saied Nadia , Aissi Radhia El , Ladeira Sonia , Benoist Eric
Published: August 2011

A new cytectrene prototype of general formula RCpTc(CO)3 (R = C6H5NHCO, Cp = cyclopentadienyl moiety) has been synthesized from N‐phenylferrocenecarboxamide 2, characterized and evaluated as a potential brain perfusion imaging agent. An improved procedure has been developed to obtain both the ligand 2, characterized by its solid‐state structure (orthorhombic, Pccn, a = 10.4443(2) Å, b = 26.1467(6) Å, c = 9.9977(3) Å), and the corresponding metallic Tc‐ and Re‐complexes in good yield. These latter complexes possessed similar HPLC retention times, thereby indicating identity of their molecular structures. The Tc‐complex 99mTc‐2 is lipophilic enough to cross the blood‐brain barrier. This complex exhibits good brain uptake (1.41% injected dose per gram tissue at 5 min) combined with a fairly good retention of radioactivity in brain (0.48% injected dose per gram tissue after 1 h). Then, the distribution of the activity at 5 min post‐injection in various rat brain regions showed a higher accumulation in the hippocampus area. The new 99mTc‐cyclopentadienyltricarbonyl technetium complex reported here showed promising biological results, making it an interesting base for the development of a new generation of cytectrene as brain perfusion imaging agent. Copyright © 2011 John Wiley & Sons, Ltd.
Design feature sensitivity analysis in a numerical model of an extrusion spider die
Authors: Mamalis A. G. , Kouzilos G. , Vortselas A. K.
Published: August 2011

In this work, we aimed to develop an optimum design for a spider die used for the extrusion of high‐density polyethylene tubes. For this purpose, a computational‐fluid‐dynamics‐based model using the generalized Newtonian approach was employed to investigate the pressure drop, flow, and temperature uniformity in the die. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Some features of polymeric membranes for water purification via membrane distillation
Authors: Mannella G. A. , La Carrubba V. , Brucato V.
Published: August 2011

Polymeric membranes are currently adopted in water purification processes, such as reverse osmosis (RO) and membrane distillation (MD). This latter technique is very promising for separation effectiveness and energy savings. A valuable and effective MD unit must be equipped with polymeric membranes that exhibit specific properties, for example, hydrophobicity, a narrow pore size range, a high water penetration pressure, and a large vapor permeability. In this work, we present and examine the main features of membranes for MD processes, with the aim of experimentally evaluating the related performances. Scanning electron microscopy analysis was carried out for a first estimate of the pore size distribution; this showed a discrepancy between the nominal pore size and the actual distribution. Vapor flux under typical water purification conditions was measured for different commercial membranes, and values as high as 35 kg m−2 h−1 were observed. Polytetrafluoroethylene membranes were more permeable for both of the MD configurations tested. The liquid entry pressure (LEP) showed an irreversible decrease in the early operation cycles related to microstructural modifications. A LEP reversible decrease with increasing temperature was observed; this showed that in the membrane selection, the nominal LEP value had to be corrected for the temperature effect for the correct choice. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
The homopolymer poly(3‐hydroxyoctanoate) as a matrix material for soft tissue engineering
Authors: Rai Ranjana , Boccaccini Aldo R. , Knowles Jonathan C. , Mordon Nicola , Salih Vehid , Locke Ian C. , Moshrefi‐Torbati M. , Keshavarz Tajalli , Roy Ipsita
Published: August 2011

The homopolymer poly(3‐hydroxyoctanoate), produced from Pseudomonas mendocina with octanoate as a carbon feed, was studied as a potential biomaterial for soft tissue engineering, that is, as a cardiac patch and as matrices for skin tissue engineering. The polymer was fabricated into neat solvent‐cast films of 5 and 10 wt %. Microstructural studies revealed the films as having a smooth surface topography with a root mean square value of 0.238 μm. The films also possessed moderate hydrophilicity when compared to other monomers of the polyhydroxyalkanoate family. Stress–strain curves of the films obtained was typical of that of elastomeric polymers. This elastomeric and flexible nature of the films makes them promising candidates for the proposed applications. Biocompatibility studies with the human adult low calcium temperature keratinocytes (HaCaT) keratinocyte cell line showed that the films were able to support the attachment, differentiation, and maturation of the HaCaT cells. In vitro degradation studies over a period of 4 months showed that the water absorption and weight loss increased progressively with time for the films. The films underwent hydrolytic degradation initiated on the surface and also showed an aging effect. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci 122:3606–3617, 2011
Analysis of the performances of organic light‐emitting devices with a doped or an undoped polyaniline–poly(4‐styrenesulfonate) hole‐injection layer
Authors: De Girolamo Del Mauro Anna , Nenna Giuseppe , Bizzarro Valentina , Grimaldi Immacolata Angelica , Villani Fulvia , Minarini Carla
Published: August 2011

Transparent and conductive nanocomposite films were spin‐coated with the use of undoped and dimethyl sulfoxide (DMSO)‐doped polyaniline (PANI)–poly(styrene sulfonate) (PSS) dispersions. The prepared dispersions were investigated in terms of their nanoparticle size distributions, and the corresponding films were morphologically, optically, and electrically characterized. These films were used as hole‐injection layers (HILs) in organic light‐emitting diode (OLEDs), and the device performances were compared to a reference device without an HIL. The device based on the PANI–PSS layer showed the best electrooptical characteristics, lowest switch‐on voltage, and improved efficiency. In particular, the device efficiency grew about three times with the introduction of the PANI–PSS layer (1.20 Cd/A) and about two times with the introduction of the DMSO‐doped PANI–PSS film (0.77 Cd/A) compared to an OLED without an HIL (0.4 Cd/A). These results indicate that the device with the undoped PANI–PSS was the more suitable one to be used as an HIL in an OLED device. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Combination of sp2‐ and sp3‐Type Phosphorus Atoms for Gold Chemistry: Preparation, Structure, and Catalytic Activity of Gold Complexes That Bear Ligated 2‐Silyl‐1,3‐diphosphapropenes
Authors: Ito Shigekazu , Zhai Lili , Mikami Koichi
Published: August 2011

Kinetically protected 2‐silyl‐1,3‐diphosphapropenes that bear both sp2‐ and sp3‐type phosphorus atoms were employed in the preparation of gold complexes. The structural properties of the 1,3‐diphosphapropene digold(I) complexes were characterized by spectroscopic and crystallographic analyses, which revealed unique aurophilic interactions and conformational properties of the ligand. The 2‐silyl‐1,3‐diphosphapropene‐bis(chlorogold) complexes catalyzed cycloisomerization reactions of 1,6‐enyne derivatives even in the absence of silver co‐catalyst, and were able to be recovered after the reaction. The catalytic activity of the digold complexes primarily depended on the sp2‐type phosphorus atom and the silyl group, and could be tuned by the sp3‐phosphino group. Additionally, results on the catalytic activity of the digold complex in the presence and absence of silver salts showed considerable differences.