bluuebunny/crossref_metadata_2025 huggingface dataset:
Identification of a 21q22 duplication in a Silver–Russell syndrome patient further narrows down the Down syndrome critical region
Authors: Eggermann Thomas , Schönherr Nadine , Spengler Sabrina , Jäger Susanne , Denecke Bernd , Binder Gerhard , Baudis Michael
Published: January 2010

Several duplications of chromosome 21q helped to narrow down the Down syndrome (DS) critical region (DSCR) to chromosomal band 21q22 with an approximate length of 5.4 Mb. Recently, it has been suggested that the facial gestalt of DS has been linked to the distal part of the DSCR whereas the proximal region harboring DSCR1/RCAN and DSCAM should be associated with the cardiac abnormalities. Here, we report on a patient with Silver–Russell syndrome (SRS) and a paternally inherited 0.46 Mb duplication in 21q22 affecting the KCNE1 and DSCR1/RCAN genes. The identification of an involvement of KCNE1 was interesting because it encodes the β‐subunit of the KvLQT1 channel as the slow component of the cardiac delayed rectifier K+ current. Since duplication of the KCNQ1 gene encoding the α‐subunit of the same channel was reported recently in another SRS patient, we screened both genes for mutations in a cohort of SRS patients without detecting pathologic variants. We presume that the duplication of the two functionally linked genes in different patients with the same disorder is a coincidental finding. However, the lack of DS typical clinical features in our case allows us to further narrow down the DSCR in 21q22. We conclude that DSCR1/RCAN is not sufficient for generating phenotypic features associated with DS but our observation does not contradict a possible role for DSCR1/RCAN in mediating DYRK1A‐based effects. © 2010 Wiley‐Liss, Inc.
Deletion of 7q11.21‐q11.23 and infantile spasms without deletion of MAGI2
Authors: Röthlisberger Benno , Hoigné Irène , Huber Andreas R. , Brunschwiler Wolfgang , Capone Mori Andrea
Published: January 2010

We report on the clinical and cytogenetic findings and on the array‐based characterization of an interstitial 7q11.21‐q11.23 deletion initially recognized by standard karyotyping in a 15‐month‐old female patient. Beginning at the age of 3 months and 2 weeks the patient had severe infantile spasms. Recently, it was reported that infantile spasms are associated with deletion of the MAGI2 gene on chromosome 7q11.23. Nevertheless, not all patients reported with deletions of MAGI2 developed infantile spasms and at least one reported patient with a deletion 7q11.23 without missing the MAGI2 gene was diagnosed with infantile spasms. Molecular karyotyping of our patient confirmed a large 13 Mb deletion encompassing the 7q11.21‐q11.23 region without involvement of MAGI2. Critical review of published data and the results of our patient underline the importance to map precisely the deletion boundaries of further patients to reevaluate the significance of MAGI2 hemizygosity in the pathogenesis of infantile spasms. © 2010 Wiley‐Liss, Inc.
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature
Authors: Smigiel Robert , Jakubiak Aleksandra , Esteves‐Vieira Vera , Szela Katarzyna , Halon Agnieszka , Jurek Tomasz , Lévy Nicolas , De Sandre‐Giovannoli Annachiara
Published: January 2010

Restrictive dermopathy (RD) is a rare, severe, lethal genodermatosis in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence. To date, about 60 cases of RD were described. The signs of the disease are very characteristic and include intrauterine growth retardation, thin, tightly adherent translucent skin, superficial vessels, typical facial dysmorphism as well as generalized joint contractures. The syndrome is caused in most cases by ZMPSTE24 autosomal recessive mutations, or, less frequently, by LMNA autosomal dominant mutations. We report on two brothers affected with RD, who died in the neonatal period. Molecular analyses were performed in the second child, for whom biological material was available, and both parents. Compound heterozygous frameshifting mutations were identified in exon 1 (c.50delA) and exon 5 (c.584_585delAT) of the ZMPSTE24 gene. The autosomal recessive inheritance was confirmed by the parents' genomic analysis. Besides, a review of the mutations causing RD is made. © 2010 Wiley‐Liss, Inc.
OEIS complex associated with chromosome 1p36 deletion: A case report and review
Authors: El‐Hattab Ayman W. , Skorupski Josh C. , Hsieh Michael H. , Breman Amy M , Patel Ankita , Cheung Sau Wai , Craigen William J.
Published: January 2010

OEIS complex (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spine abnormalities) is a rare defect with estimated incidence of 1 in 200,000 live births. Most cases are sporadic, with no obvious cause. However, it has been rarely reported in patients with family members having similar malformations or with chromosomal anomalies. In addition, OEIS complex has been observed in association with environmental exposures, twinning, and in vitro fertilization. Monosomy 1p36 is the most common terminal deletion syndrome, with a prevalence of 1 in 5,000 newborns. It is characterized by specific facial features, developmental delay, and heart, skeletal, genitourinary, and neurological defects. We describe an infant with OEIS complex and 1p36 deletion who had features of both disorders, including omphalocele, cloacal exstrophy, imperforate anus, sacral multiple segmentation, renal malposition and malrotation, genital anomalies, diastasis of the symphysis pubis, microbrachycephaly, large anterior fontanel, cardiac septal defects, rib fusion, a limb deformity, developmental delay, and typical facial features. Chromosomal microarray analysis detected a 2.4 Mb terminal deletion of chromosome 1p. This is the first reported case with OEIS complex in association with a chromosome 1p36 deletion. © 2010 Wiley‐Liss, Inc.
Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25
Authors: Ricks Christian B. , Masand Ruchi , Fang Ping , Roney Erin K. , Cheung Sau Wai , Scott Daryl A.
Published: January 2010

Duplications involving portions of the long arm of the X‐chromosome can be associated with mental retardation, short stature, microcephaly, panhypopituitarism, and a wide range of physical findings. Less common are duplications in distal Xq associated with hemihyperplasia and digital anomalies. We report on a 4‐year‐old female with hemihyperplasia, syndactyly of fingers and toes, bilateral 5th finger clinodactyly, short stature, developmental delay, and microcephaly associated with an 11.2 Mb duplication of Xq25–Xq27.1. The boundaries of this duplication were mapped using high resolution array comparative genome hybridization and follow‐up studies revealed that the same duplication was carried by the patient's mother who has short stature and cognitive disabilities. Using the duplication boundaries from this case, and data from previously published reports, we have delineated a 1.65 Mb critical region for hemihyperplasia and digital anomalies on chromosome Xq25. Based on these findings physicians should consider obtaining array comparative genome hybridization studies on individuals with hemihyperplasia especially when accompanied by digital findings since identification of an Xq25 duplication can dramatically change recurrence risk estimations and may also provide insight into the possible comorbidities. © 2010 Wiley‐Liss, Inc.
Speech–language characteristics of children with neurofibromatosis type 1
Authors: Thompson Heather L. , Viskochil David H. , Stevenson David A. , Chapman Kathy L.
Published: January 2010

Delays in speech and articulation development have been found in school‐aged children and adolescents with neurofibromatosis type 1 (NF1). This report examines speech and language skills of preschool children with NF1. Nineteen 3‐ to 5‐year‐old children diagnosed with NF1 were assessed using measures of articulation (GFTA‐2), and receptive and expressive language (CELF‐P2). Significant differences were observed between mean scores obtained by the group of children with NF1 compared to the validated controls from the speech and language instruments (P ≤ 0.009). Sixty‐eight percent of the children exhibited delays in speech and/or language. Thirty‐two percent demonstrated delays in articulation, 37% percent demonstrated delays in receptive language, and 37% exhibited delays in expressive language. Sixteen percent of the children exhibited a voice disorder and 42% were judged to have a resonance problem. No significant differences were observed on any of the measures of speech and language for children with non‐familial versus familial NF1. Results of this study support the need for early assessment of speech and language problems for children diagnosed with NF1 and implementation of appropriate timely intervention as needed. © 2010 Wiley‐Liss, Inc.
8q23‐q24 duplication—further delineation of a rare chromosomal abnormality
Authors: Wheeler Patricia G.
Published: January 2010

Presented here is a young girl with a rare interstitial duplication of 8q23.3‐q24.21. At birth, unusual facial features led to karyotype analysis with a finding of increased material in 8q. Specific determination of where the extra material came from required comparative genomic hybridization (CGH). The affected girl has dysmorphic facial features including hypertelorism, a wide nasal bridge, retrognathia, hyperopic astigmatism, hirsutism, and developmental delay. The area duplicated includes at least 47 genes including TRPS1 and EXT1. Her features will be described and compared to two similar cases. © 2010 Wiley‐Liss, Inc.
Acute lymphoblastic leukemia in Weaver syndrome
Authors: Basel‐Vanagaite Lina
Published: January 2010

Weaver syndrome comprises pre‐ and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance and developmental delay; it is a generally sporadic disorder, although autosomal dominant inheritance has been reported. Some of the manifestations characterize both the Weaver and Sotos syndrome, and distinction between the two is mainly by clinical examination and molecular testing. Most of the patients with Sotos syndrome have NSD1 gene deletions or mutations; however, the molecular basis of most of the Weaver syndrome patients is unknown. Patients with overgrowth syndromes have an increased frequency of tumors; the risk in Sotos syndrome patients has been estimated to be about 2–3%, with leukemia and lymphoma accounting for 44% of the malignancies. We report on a $4{\raise0.5ex\hbox{$\scriptstyle 1$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle 2$}}$‐year‐old girl with typical Weaver syndrome who developed acute lymphoblastic leukemia, an association not previously reported, and review the reported cases of Weaver syndrome patients who developed malignancies. Malignancy in Weaver syndrome has been reported previously in six patients. While searching the literature for all reported cases with Weaver syndrome and counting the cases with malignancy, we found that the frequency of tumors or hematologic malignancy was 10.9%. This is likely to be an overestimate, biased by failure to report cases without tumors and by over‐reporting cases with this rare association. While the presence of acute lymphoblastic leukemia in our patient might be incidental, we cannot exclude a possible causative association between Weaver syndrome and hematologic malignancy. © 2010 Wiley‐Liss, Inc.
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B
Authors: Muramatsu Yukako , Kosho Tomoki , Magota Miyuki , Yokotsuka Taro , Ito Masatoki , Yasuda Ayako , Kito Osamu , Suzuki Chizuko , Nagata Yoshie , Kawai Satoru , Ikoma Masanobu , Hatano Tameo , Nakayama Masato , Kawamura Rie , Wakui Keiko , Morisaki Hiroko , Morisaki Takayuki , Fukushima Yoshimitsu
Published: January 2010

Loeys–Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor β receptor type 1 (TGFBR1) or type 2 (TGFBR2) genes. We report on a neonate with the disorder caused by a known TGFBR2 mutation, who developed neonatal‐onset progressive dilation of the aortic valve and aneurysms of the aortic root and main pulmonary artery (PA) associated with a large left‐to‐right shunt via a ventricular septal defect (VSD) and an atrial septal defect. He also had skeletal features (flexion contractures of the fingers, talipes equinovarus, a cleft palate, and joint laxity), mild facial dysmorphisms, and developmental delay. The dilation and aneurysms progressed after PA banding at age 12 days; and the patient received an intracardiac repair of the defects and PA plasty at age 42 days, followed by no further progression of the dilation and the aneurysms. Neonates with generalized hypotonia, a cleft palate, inguinal herniae, musculoskeletal features such as camptodactyly and talipes equinovarus, and a cardiac murmur should be suspected to have LDS, and extensive cardiovascular evaluation and testing of TGFBR1 and TGFBR2 are recommended. LDS patients with cardiac defects that lead to a large left‐to‐right shunt and congestive heart failure such as VSD should be considered for intracardiac repair even in early infancy. © 2010 Wiley‐Liss, Inc.
A review of facial image analysis for delineation of the facial phenotype associated with fetal alcohol syndrome
Authors: Douglas Tania S. , Mutsvangwa Tinashe E.M.
Published: January 2010

The facial anomalies associated with fetal alcohol syndrome (FAS), some of which are also present in individuals with less severe forms of the broader category of fetal alcohol spectrum disorders (FASD), are typically identified with the aid of linear distance measurements taken between facial landmarks. Digital facial imaging methods are increasingly being used in syndrome delineation. Distance measurements derived from stereo‐photogrammetry and facial surface imaging have been used to study the FAS facial anomalies. Geometric morphometric methods capture the spatial arrangement between landmarks, providing a statistical platform for comparison of facial shapes, and have been shown to hold promise for characterizing the FAS facial shape. We review the progression in the use of imaging and image analysis methods in studies on the facial phenotype associated with FAS. © 2010 Wiley‐Liss, Inc.
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?
Authors: Wójcik Cezary , Volz Kim , Ranola Maria , Kitch Karla , Karim Tariza , O'Neil Joseph , Smith Jodi , Torres‐Martinez Wilfredo
Published: January 2010

Rubinstein–Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2‐year‐old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a ∼520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL. © 2010 Wiley‐Liss, Inc.
Proteolytic Cleavage of Versican During Limb Joint Development
Authors: Capehart Anthony A.
Published: January 2010

Versican is highly expressed in developing joint interzones during limb morphogenesis. This study was undertaken to examine whether proteolytic cleavage of versican occurs that could potentially impact its function during the process of embryonic synovial joint formation. Using an antibody to the DPEAAE neoepitope generated by ADAMTS proteolysis, versican amino terminal cleavage fragments were detected in joint interzones at 12–16 days post coitum (dpc). ADAMTS‐1 localization overlapped that of DPEAAE‐reactive versican fragments suggesting it as one possible protease activity involved in processing of versican in the interzone. Results show that increased cleavage of versican in the interzone accompanies cavitation and suggests that proteolytic modification of versican may be important during the process of synovial joint maturation. Anat Rec, 293:208–214, 2010. © 2010 Wiley‐Liss, Inc.
Management of nonresponse to rituximab in rheumatoid arthritis: Predictors and outcome of re‐treatment
Authors: Vital E. M. , Dass S. , Rawstron A. C. , Buch M. H. , Goëb V. , Henshaw K. , Ponchel F. , Emery P.
Published: January 2010

Objective

A proportion of patients with rheumatoid arthritis (RA) have disease that fails to respond to an initial cycle of rituximab. Using highly sensitive flow cytometry (HSFC), it has been shown that most patients who do not exhibit a response, as measured using the European League Against Rheumatism (EULAR) criteria, have persistent circulating B cell levels at week 2 after initial treatment with rituximab. This study was undertaken to examine whether an additional cycle of rituximab would improve B cell depletion and clinical response in patients whose disease did not respond to the initial cycle.

Methods

Patients with RA (n = 158) were treated with a first cycle of rituximab (2 infusions of 1 gm each). Clinical responses were assessed using EULAR criteria, and patients were categorized as either first‐cycle responders or first‐cycle nonresponders. Baseline characteristics of first‐cycle nonresponders (n = 38) and first‐cycle responders (n = 65) with complete data were compared. First‐cycle nonresponders (n = 25) were treated with a second cycle of rituximab at least 6 months after the first cycle. HSFC was performed at baseline, immediately prior to the second infusion (week 2), 1 month after the second infusion (week 6), and then every 3 months for each cycle of rituximab. Complete B cell depletion was defined as being <0.0001 × 109 cells/liter.

Results

At baseline, the number of preplasma cells was significantly higher in first‐cycle nonresponders than in first‐cycle responders (P = 0.003). Following the first infusion of the first cycle of rituximab, only 9% of first‐cycle nonresponders (3 of 34) exhibited complete depletion of B‐lineage cells, compared with 37% of first‐cycle responders (22 of 59) (P = 0.007). Following the first infusion of the second cycle of rituximab, 38% of first‐cycle nonresponders exhibited complete depletion. Twenty‐six weeks after the second cycle, there was a significant improvement in the Disease Activity Score in 28 joints, with 72% of patients exhibiting a EULAR response.

Conclusion

RA patients whose disease did not respond to an initial cycle of rituximab have higher circulating preplasma cell numbers at baseline and incomplete depletion. Our findings indicate that an additional cycle of rituximab administered prior to total B cell repopulation enhances B cell depletion and clinical responses.
Disruption of tight junction structure in salivary glands from Sjögren's syndrome patients is linked to proinflammatory cytokine exposure
Authors: Ewert Patricia , Aguilera Sergio , Alliende Cecilia , Kwon Yoon‐Jeoung , Albornoz Amelina , Molina Claudio , Urzúa Ulises , Quest Andrew F. G. , Olea Nancy , Pérez Paola , Castro Isabel , Barrera María‐José , Romo Rafael , Hermoso Marcela , Leyton Cecilia , González María‐Julieta
Published: January 2010

Objective

Disorganization of acinar cell apical microvilli and the presence of stromal collagen in the acinar lumen suggest that the labial salivary gland (LSG) barrier function is impaired in patients with Sjögren's syndrome. Tight junctions define cell polarity and regulate the paracellular flow of ions and water, crucial functions of acinar cells. This study was undertaken to evaluate the expression and localization of tight junction proteins in LSGs from patients with SS and to determine in vitro the effects of tumor necrosis factor α (TNFα) and interferon‐γ (IFNγ) on tight junction integrity of isolated acini from control subjects.

Methods

Twenty‐two patients and 15 controls were studied. The messenger RNA and protein levels of tight junction components (claudin‐1, claudin‐3, claudin‐4, occludin, and ZO‐1) were determined by semiquantitative reverse transcriptase–polymerase chain reaction and Western blotting. Tight junction protein localization was determined by immunohistochemistry. Tight junction ultrastructure was examined by transmission electron microscopy. Isolated acini from control subjects were treated with TNFα and IFNγ.

Results

Significant differences in tight junction protein levels were detected in patients with SS. ZO‐1 and occludin were strongly down‐regulated, while claudin‐1 and claudin‐4 were overexpressed. Tight junction proteins localized exclusively to apical domains in acini and ducts of LSGs from controls. In SS patients, the ZO‐1 and occludin the apical domain presence of decreased, while claudin‐3 and claudin‐4 was redistributed to the basolateral plasma membrane. Exposure of isolated control acini to TNFα and IFNγ reproduced these alterations in vitro. Ultrastructural analysis associated tight junction disorganization with the presence of endocytic vesicles containing electron‐dense material that may represent tight junction components.

Conclusion

Our findings indicate that local cytokine production in LSGs from SS patients may contribute to the secretory gland dysfunction observed in SS patients by altering tight junction integrity of epithelial cells, thereby decreasing the quality and quantity of saliva.
Comparison of lateral thermal spread using monopolar and bipolar diathermy, the Harmonic Scalpel™ and the Ligasure™
Authors: Sutton P A , Awad S , Perkins A C , Lobo D N
Published: January 2010

Background

Electrosurgery for dissection and haemostasis should be associated with minimal thermal spread to surrounding tissues. This study investigated lateral thermal spread following ex vivo application of four commonly utilized instruments.

Methods

Monopolar and bipolar diathermy (power settings 20, 30 and 40 W), the Harmonic Scalpel™ and Ligasure™ (power settings 1, 3 and 5) were studied after application to standardized porcine muscle cuts for 5, 10 or 15 s. Temperatures generated at the tips of the instruments, in the tissues adjacent to the tips and 1 cm away were recorded.

Results

Following a 5-s application at the highest power setting, the highest mean(s.d.) temperatures recorded at the tips of monopolar and bipolar diathermy, Harmonic Scalpel™ and Ligasure™ instruments were 78·9(4·1), 41·9(2·2), 47·6(2·5) and 44·2(2·6) °C respectively. Temperatures at the instrument tips after use for 15 s remained above 42 °C for 55, 25, 15 and 15 s respectively. Applying monopolar diathermy (10 s at 40 W) resulted in a temperature recording of 59·2(2·2) °C in tissues 1 cm away from the tip of the instrument.

Conclusion

The degree of lateral thermal spread varied with instrument type, power setting and application time. Monopolar diathermy resulted in the highest temperatures and the greatest degree of thermal spread in tissues.
Nipple-sparing mastectomy
Authors: Rusby J E , Smith B L , Gui G P H
Published: January 2010

Background

Although effective local control is the primary goal of surgery for breast cancer, the long-term aesthetic outcome is also important. Nipple-sparing mastectomy aims to address this, but there is no consensus on its clinical application. Evidence relating to oncological safety, surgical technique and early data on aesthetic outcome was reviewed.

Methods

The review was based on a PubMed search using the terms ‘nipple-sparing’ or ‘subcutaneous mastectomy’ and ‘breast cancer’.

Results

Large pathological studies report occult nipple involvement with cancer in 5·6–31 per cent, reflecting variation in inclusion criteria. Recent clinical series with careful patient selection report local recurrence in less than 5 per cent of patients. The incidence of cancer in the retained nipple after risk-reducing mastectomy is less than 1 per cent. Nipple necrosis rates range up to 8 and 16 per cent for total and partial necrosis respectively. Variations in outcome result from differences in extent of resection, placement of incisions and type of breast reconstruction.

Conclusion

Nipple-sparing mastectomy is an acceptable technique for women undergoing risk-reducing mastectomy. In the therapeutic setting, it may be offered to patients with smaller tumours far from the nipple and favourable pathological features. Women should be counselled about nipple necrosis and the potential for local recurrence.
Application of a rapid and selective method for the simultaneous determination of carebastine and pseudoephedrine in human plasma by liquid chromatography–electrospray mass spectrometry for bioequivalence study in Korean subjects
Authors: Lee Myung‐Jae , Lee Heon‐Woo , Kang Jong‐Min , Seo Ji‐Hyung , Tak Seong‐Kun , Shim Wangseob , Yim Sung‐Vin , Hong Seung Jae , Lee Kyung‐Tae
Published: January 2010

We describe a simple, rapid and sensitive high‐performance liquid chromatography–electrospray ionization tandem mass spectrometric method that was developed for the simultaneous determination of carebastine and pseudoephedrine in human plasma using cisapride as an internal standard. Acquisition was performed in multiple‐reaction monitoring mode by monitoring the transitions: m/z 500.43 > 167.09 for carebastine and m/z 166.04 > 147.88 for pseudoephedrine. The devised method involves a simple single‐step liquid–liquid extraction with ethyl acetate. Chromatographic separation was performed on a C18 reversed‐phase chromatographic column at 0.2 mL/min by isocratic elution with 10 mM ammonium formate buffer–acetonitrile (30:70, v/v; adjusted to pH 3.3 with formic acid). The devised method was validated over 0.5–100 ng/mL of carebastine and 5–1000 ng/mL of pseudoephedrine with acceptable accuracy and precision, and was successfully applied to a bioequivalence study involving a single oral dose (10 mg of ebastine plus 120 mg of pseudoephedrine complex) to healthy Korean volunteers. Copyright © 2010 John Wiley & Sons, Ltd.
Searching for the developmental origins of sexual violence: examining the co‐occurrence of physical aggression and sexual behaviors in early childhood
Authors: Lussier Patrick , Healey Jay
Published: January 2010

While developmental perspectives on sexual violence have gained much interest in recent years, few empirical studies have been conducted to better understand its origins. This study attempts to fill this gap by examining the onset of physical aggression and normative sexual behaviors in preschoolers. This study is based on a sample of at‐risk children (n = 100) recruited as part of the KD‐BEAR project, an on‐going longitudinal study conducted in Vancouver, British Columbia, Canada. Semi‐structured interviews were completed with the primary caregiver and the child. The structural model examined showed a significant and important latent correlation between physical aggression and sexual behaviors across models tested, after controlling for child and familial characteristics. Furthermore, findings showed that male preschoolers coming from low income families having been referred for assessment and/or treatment for an externalizing spectrum disorder showed higher levels of both aggression and sexual behaviors. The implications of these findings are discussed in light of developmental models of sexual violence, and the secondary prevention of sexual violence at its earliest stages. Copyright © 2010 John Wiley & Sons, Ltd.
Biodisk: A new device for closure of patent foramen ovale: A feasibility study in swine
Authors: Pavcnik Dusan , Takulve Kurt , Uchida Barry T. , Pavcnik Arnol Maja , VanAlstine William , Keller Frederick , Rösch Josef
Published: January 2010

Purpose: To evaluate the feasibility, effectiveness, and safety of a porcine small intestinal submucosa (SIS)‐covered Biodisk (BD) for the closure of patent foramen ovale (PFO) in swine. Methods: Twelve piglets (9–30 kg) with PFO ranging in size from 6 to 12 mm were used for the in vivo testing. The BD device consisted of two basic nitinol wire components covered with platinum coil, a flexible SIS‐covered ring, and an anchor. The BD was advanced through an 8‐Fr sheath from the femoral vein. Nine acute animals were used to test the BD for deployment, stability, immediate shunt closure, and device repositioning before or after its detachment. To assess retrievability, four devices were deployed and intentionally embolized into the RA (n = 2) and LA (n = 2). The effectiveness of the device was evaluated by angiocardiography. EKG was recorded before and after PFO closure for 3 hr. From the 12 animals, nine were acute and three were followed; one for 6 weeks, one for 12 weeks, and one for 16 weeks. Results: Successful device implantation was achieved in all animals with no shunting of contrast media observed during follow‐up in. One animal needed to have device repositioned for complete PFO occlusion because of suboptimal placement at the first attempt. The device was easily placed and retrieved before detachment in all nine animals in the acute study. None of the BDs spontaneously embolized during release or on follow‐up. EKG did not demonstrate arrhythmias during or after treatment. Four intentionally embolized BDs were easily retrieved with an Amplatz goose neck snare. Macroscopic and histologic evaluation of the three long‐term animals showed that devices were well incorporated in the atrial septum with complete shunt closure. The SIS showed progressive remodeling with the host cells. There was also progressive endothelization of the BD device. Conclusion: The BD device deployment is feasible, safe, and effective. Long‐term studies are needed to evaluate its long‐term effectiveness. © 2010 Wiley‐Liss, Inc.
A noncompliant, high pressure balloon to manage undilatable coronary lesions
Authors: Raja Yogesh , Routledge Helen C. , Doshi Sagar N.
Published: January 2010

Undilatable coronary lesions, due to coronary calcification, are encountered with increasing frequency. Percutaneous intervention of such lesions comes with the risk of stent underexpansion, which increases the risk of stent thrombosis and restenosis. A variety of techniques and devices are available to assist the interventionist in the treatment of calcified lesions. The OPN NC (SIS‐Medical AG, Winterthur, Switzerland) is a high‐pressure balloon (rated burst pressure 35 atm) that uses a novel, twin‐layer balloon technology to ensure uniform balloon expansion, eliminating “dog‐boning.” We report four cases of successful treatment of calcified lesions with the OPN NC balloon after dilatation with standard noncompliant balloons to high‐pressure failed. © 2010 Wiley‐Liss, Inc.
Patients with coronary artery disease not amenable to traditional revascularization: Prevalence and 3‐year mortality
Authors: Williams Benjamin , Menon Madhav , Satran Daniel , Hayward Daniel , Hodges James S. , Burke M. Nicholas , Johnson Randall K. , Poulose Anil K. , Traverse Jay H. , Henry Timothy D.
Published: January 2010

Objectives: To determine the contemporary prevalence of and mortality in patients with coronary artery disease (CAD) not amenable to revascularization. Background: A growing number of patients have severe CAD with ongoing angina despite optimal medical therapy which is not amenable to traditional revascularization. Limited data exist on contemporary prevalence and outcome for these patients. Methods: Clinical and angiographic data were reviewed for 493 consecutive patients undergoing coronary angiography and revascularization if indicated. Patients were categorized into six groups: (1) normal coronary arteries, (2) CAD <70%, (3) CAD >70% with complete revascularization by percutaneous intervention or coronary artery bypass grafting, (4) CAD >70% with partial revascularization, (5) CAD >70% treated medically, and (6) CAD >70% on optimal medical therapy with no revascularization option. All‐cause mortality at 3 years was determined. Results: Prevalence for groups 1–6 was 14.8, 19.5, 36.9, 12.8, 9.3, and 6.7%, respectively. Three‐year mortality increased with angiographic severity of CAD: 2.7, 6.3, 8.2, 12.7, 17.4, and 15.2%, respectively. Patients with incomplete revascularization (groups 4–6, n = 142) had higher mortality than completely revascularized patients (groups 1–3, n = 351): 14.8 vs. 6.6% (P = 0.004). Conclusions: In a contemporary series of patients undergoing coronary angiography, 28.8% (142/493) of patients had significant CAD and did not undergo complete revascularization, including 12.8% partially revascularized, 9.3% managed medically, and 6.7% with “no‐option.” These patients had higher mortality at 3 years (14.8 vs. 6.6%, P = 0.004) when compared with completely revascularized patients. © 2010 Wiley‐Liss, Inc.
Treatment of an iatrogenic subclavian artery dissection
Authors: Spies Christian , Fergusson David
Published: January 2010

Subclavian artery dissection is a rare complication of cardiac catheterization. The usual reason for entering this vessel is to access the origin of the left internal mammary artery (LIMA) when this has previously been used, or is being considered, as a bypass graft. We report an instance of such dissection occurring long after bypass surgery which had included a LIMA graft. Successful correction was achieved by angioplasty and stent placement, using a retrograde left brachial approach. © 2010 Wiley‐Liss, Inc.
A prospective multicenter registry of 0.010‐inch guidewire and compatible system for chronic total occlusion: The PIKACHU registry
Authors: Matsukage Takashi , Masutani Motomaru , Yoshimachi Fuminobu , Takahashi Akihiko , Katsuki Takaaki , Saito Shigeru , Terai Hidenobu , Katahira Yoshiaki , Uehara Yoshiki , Tohara Satoru , Ohba Yurika , Shinohara Shoichi , Asano Hiroshi , Matsumura Toshiyuki , Hata Tetsuya , Ikari Yuji
Published: January 2010

Objectives: The aim of this study was to evaluate the safety and effectiveness of a 0.010‐inch guidewire and a balloon catheter for treatment of chronic total occlusion (CTO). Background: Pathological studies have shown that 60–70% of CTO lesions have microchannels of sizes equal to or less than 0.010 inch. Methods: The PIKACHU registry is a prospective, multicenter registry study. A 0.010‐inch guidewire had to be used as the first guidewire to attempt to pass the CTO lesion. The primary endpoint was device success using a 0.010 system. Results: A total of 141 patients with 141 lesions were enrolled. The median duration of occlusion was 9 months (range 3–156). Average guiding catheter size was 5.8 ± 0.7 Fr. and TRI was 76.6 %. CTOs were mostly between 10–20 mm long, observed in 53 occlusions. There were 107 lesions (75.9%) with bending of more than 45 degrees. Calcification was seen in 91 lesions (64.5%). A 0.010‐inch guidewire was successfully passed through in 97 of 141 lesions (68.8%). A 0.010‐inch guidewire compatible balloon catheter was passed in 87 of the 97 lesions (88.7%) and final PCI success was achieved in all the cases. The overall clinical success rate was 87.9% (124/141). No MACE or bleeding complications were observed. Conclusion: The PIKACHU registry data suggest that the 0.010‐inch system is safe and practicable for treatment of CTO lesions. © 2010 Wiley‐Liss, Inc.
Atrial myxoma's and coronary angiography
Authors: Rafiq Isma , Parthasarthy H. , Clark C. Grahame
Published: January 2010

Coronary angiography is not an only important component of preoperative evaluation of the patient with underlying coronary artery disease but also diagnostic tool for delineating cardiac myxomas. This also serve as an important surgical anatomical marker. We present two cases which presented with repeated episode of chest pain, were found to have atrial blushing on coronary angiography subsequent confirmation of diagnosis of atrial myxoma on echocardiography. © 2010 Wiley‐Liss, Inc.
Rotational atherectomy for fibro‐calcific coronary artery disease in drug eluting stent era: Procedural outcomes and angiographic follow‐up results
Authors: Rathore Sudhir , Matsuo Hitoshi , Terashima Mitsuyasu , Kinoshita Yoshihisa , Kimura Masashi , Tsuchikane Etsuo , Nasu Kenya , Ehara Mariko , Asakura Yasushi , Katoh Osamu , Suzuki Takahiko
Published: January 2010

Objectives: The aim of this study was to examine the binary re‐stenosis rates, procedural success, and in hospital outcomes following treatment of fibro‐calcified coronary lesion with rotational atherectomy in drug eluting stent era. Background: Binary restenosis rates have remained high with the use of bare metal stents following rotational atherectomy in calcified lesions. There is limited data available following rotational atherectomy in drug eluting stent era. Methods: We evaluated the procedural and angiographic outcomes following a consecutive series of 516 procedures treated with rotational atherectomy followed by stenting. We compared the results between Rota + Drug eluting stent (DES) and Rota + bare metal stent (BMS) groups. Results: Procedural success was achieved in 97.1% of the lesions with overall low in hospital adverse events (death in 1.1%, Q MI in 1.3%, Non Q MI in 5.3%, and urgent repeat PCI in 0.4%). There was significant reduction in the binary restenosis rates following Rota + DES use as compared to Rota + BMS use (11% vs. 28.1%, P < 0.001; OR = 3.17, 95% CI: 1.76–5.93) and similar reduction was seen in the target lesion revascularization (10.6% vs. 25%, P = 0.001; OR = 2.81, 95% CI: 1.53–5.14). We have identified ostial lesions, chronic total occlusion lesions, and use of bare metal stents as independent predictors of restenosis in this group of patients. Conclusions: Rotational atherectomy can be performed with high success rates and low complications, and rotational atherectomy followed by drug eluting stent implantation significantly reduces binary restenosis rates in fibrocalcific lesions as compared to rotational atherectomy and bare metal stents. © 2010 Wiley‐Liss, Inc.
Contemporary use of embolic protection devices in saphenous vein graft interventions: Insights from the stenting of saphenous vein grafts trial
Authors: Badhey Neeraj , Lichtenwalter Christopher , de Lemos James A. , Roesle Michele , Obel Owen , Addo Tayo A. , Haagen Donald , Abdel‐Karim Abdul‐Rahman , Saeed Bilal , Bissett Joseph K. , Sachdeva Rajesh , Voudris Vassilios V. , Karyofillis Panagiotis , Kar Biswajit , Rossen James , Fasseas Panayotis , Berger Peter B. , Banerjee Subhash , Brilakis Emmanouil S.
Published: January 2010

Background: We sought to evaluate the contemporary use of embolic protection devices (EPDs) in saphenous vein graft (SVG) interventions. Methods: We examined EPD use in the stenting of saphenous vein grafts (SOS) trial, in which 80 patients with 112 lesions in 88 SVGs were randomized to a bare metal stent (39 patients, 43 grafts, and 55 lesions) or paclitaxel‐eluting stent (41 patients, 45 grafts, and 57 lesions). Results: An EPD was used in 60 of 112 lesions (54%). A Filterwire (Boston Scientific) was used in 70% of EPD‐treated lesions, Spider (ev3, Plymouth, Minnesota) in 12%, Proxis (St. Jude, Minneapolis, Minnesota) in 12%, and Guardwire (Medtronic, Santa Rosa, California) in 7%. Of the remaining 52 lesions, an EPD was not utilized in 13 lesions (25%) because the lesion was near the distal anastomosis, in 14 lesions (27%) because of an ostial location, in one lesion (2%) because of small SVG size, in two in‐stent restenosis lesions (4%) because of low distal embolization risk, and in 22 lesions (42%) because of operator's preference even though use of an EPD was feasible. Procedural success was achieved in 77 patients (96%); in one patient a Filterwire was entrapped requiring emergency coronary bypass graft surgery and two patients had acute stent thrombosis. Conclusion: In spite of their proven efficacy, EPDs were utilized in approximately half of SVG interventions in the SOS trial. Availability of a proximal protection device could allow protection of ∼25% of unprotected lesions, yet operator discretion appears to be the major determinant of EPD use. © 2010 Wiley‐Liss, Inc.
Outcomes after differential use of drug‐eluting stents in diabetic patients: 1‐Year results from the DES.DE (Drug‐Eluting Stent.DEutschland) registry
Authors: Akin Ibrahim , Bufe Alexander , Eckardt Lars , Reinecke Holger , Richardt Gert , Kuck Karl‐Heinz , Senges Jochen , Schneider Steffen , Nienaber Christoph A. ,   for the DES.DE Study group
Published: January 2010

Objectives: The prospective multicenter German DES.DE registry provides real world data to evaluate the therapeutic principle of two different drug‐eluting stents (DES) [Sirolimus‐ (SES) and Paclitaxel‐eluting stent (PES)] in the context of the German Health System. Background: Differential DES have been effective in randomized trials, but their difference in safety and efficacy in diabetic patients has not been well studied. Methods: Baseline, predefined procedural as well as clinical in‐hospital and follow‐up events were recorded for all 1,526 diabetic patients. The composite of death, myocardial infarction (MI), and stroke defined as major adverse cardiac and cerebrovascular events (MACCE) and target vessel revascularization (TVR) were defined as primary endpoints. Results: Between October 2005 and October 2006, 1,526 diabetic patients, 34.2% of them being insulin‐dependent, were enrolled (SES: n = 612; PES: n = 914) at 98 DES.DE sites. Overall, one third of patients were admitted with acute coronary syndrome (ACS) and 70% had multivessel‐disease reflecting a real world scenario. With similar baseline clinical and descriptive morphology of coronary artery disease (CAD) in both DES groups, there were no statistical differences in 1‐year follow‐up with respect to rates of overall mortality (5.8% vs. 5.4%), TVR (12.0% vs. 11.3%), overall stent thrombosis (5.6% vs. 4.6%) and MACCE (11.4% vs. 10.3%) between both DES. Conclusion: The data collected in DES.DE revealed no differences in clinical outcomes within 1 year between SES and PES in diabetic patients in a “real‐world” setting. © 2010 Wiley‐Liss, Inc.
An everolimus‐eluting stent versus a paclitaxel‐eluting stent in small vessel coronary artery disease: A pooled analysis from the SPIRIT II and SPIRIT III trials
Authors: Bartorelli Antonio L. , Serruys Patrick W. , Miquel‐Hébert Karine , Yu Shui , Pierson Wes , Stone Gregg W. ,   on behalf of the SPIRIT II SPIRIT III Investigators
Published: January 2010

Objectives: To evaluate the safety and efficacy of the XIENCE V everolimus‐eluting stent compared to the TAXUS paclitaxel‐eluting stent in small vessels. Backgroud: The XIENCE V everolimus‐eluting stent (EES) has been shown to improve angiographic and clinical outcomes after percutaneous myocardial revascularization, but its performance in small coronary arteries has not been investigated. Methods: In this pooled analysis, we studied a cohort of 541 patients with small coronary vessels (reference diameter <2.765 mm) by using patient and lesion level data from the SPIRIT II and SPIRIT III studies. TAXUS Express (73% of lesions) and TAXUS Liberté (27% of lesions) paclitaxel‐eluting stents (PES) were used as controls in SPIRIT II. In SPIRIT III, Taxus Express2 PES was the control. Results: Mean angiographic in‐stent and in‐segment late loss was significantly less in the EES group compared with the PES group, (0.15 ± 0.37 mm vs. 0.30 ± 0.44 mm; P = 0.011 for in‐stent; 0.10 ± 0.38 mm vs. 0.21 ± 0.34 mm; P = 0.034 for in‐segment). EES also resulted in a significant reduction in composite major adverse cardiac events at 1 year (19/366 [5.2%] vs. 17/159 [10.7%]; P = 0.037), due to fewer non‐Q‐wave myocardial infarctions and target lesion revascularizations. At 1 year, the rate of non‐Q‐wave myocardial infarction was significantly lower in the EES group compared with that of the PES group (6/366 [1.6%] vs. 8/159 [5.0%]; P = 0.037). Conclusions: In patients with small vessel coronary arteries, the XIENCE V EES was superior to the TAXUS PES. © 2010 Wiley‐Liss, Inc.
Ischemic cardiac complications following G‐CSF
Authors: Eckman Peter M. , Bertog Stefan C. , Wilson Robert F. , Henry Timothy D.
Published: January 2010

Granulocyte‐colony stimulating factor (G‐CSF) is commonly used in bone marrow transplant donors to increase the number of circulating progenitor cells. G‐CSF has also been studied following myocardial infarction, but concern has been raised about the risks of G‐CSF administration in patients with coronary artery disease. We present two cases of ischemic cardiac complications that are likely to be related to administration of G‐CSF and provide a contemporary overview of the literature on the cardiovascular risks of G‐CSF. © 2010 Wiley‐Liss, Inc.
Distal stent delivery with guideliner catheter: First in man experience
Authors: Mamas Mamas A. , Fath‐Ordoubadi Farzin , Fraser Douglas G.
Published: January 2010

Failure to deliver stents is one of the commonest causes of procedural failure in contemporary PCI practice. We describe successful use of the Guideliner Catheter, the first purpose designed FDA and CE marked device delivery catheter in 13 complex cases in native coronary vessels and bypass grafts performed via the radial route to enable distal stent delivery following failure of conventional techniques. We discuss how the Guideliner catheter may be used to facilitate difficult radial cases. © 2010 Wiley‐Liss, Inc.
Reconfiguration of the Amplatzer Vascular Plug II 5 months after occlusion of venovenous collateral in a bidirectional cavopulmonary circulation
Authors: Sheridan Bennett , Ward Cameron , Justo Robert
Published: January 2010

Venovenous anomalous vessels are a common complication seen in the bidirectional cavopulmonary circulation. In this report, we describe the use of the Amplatzer Vascular Plug II and subsequent demonstration of nitinol device memory with significant device reconfiguration at 5 months follow‐up. © 2010 Wiley‐Liss, Inc.
Early recognition of catheter‐induced left main coronary artery vasospasm: Implications for revascularization
Authors: Edris Ahmad , Patel Pranav M. , Kern Morton J.
Published: January 2010

Catheter‐induced left main coronary artery (LMCA) vasospasm is a rare complication of coronary angiography that confounds the decision for coronary artery bypass graft (CABG) surgery. We report two cases of catheter‐induced LMCA vasospasm. The first case was a 68‐year‐old woman who presented 6 years after CABG for presumed severe LMCA atherosclerotic disease. Coronary angiography demonstrated totally occluded CABGs and normal native coronary arteries, including a normal LMCA. The second case was a 56‐year‐old man with severe LMCA stenosis, who was scheduled for unprotected LM percutaneous coronary intervention (PCI). Repeat angiography 2 days later showed no stenosis. These cases emphasize the need for meticulous technique and a high index of suspicion of LMCA vasospasm. Intravascular ultrasound (IVUS) at the time of angiography may help to identify minimal atherosclerotic disease suggesting vasospasm. Alternatively, noninvasive testing, such as Computed Tomography (CT) angiography, may diagnose LM spasm in these patients prior to CABG surgery. © 2010 Wiley‐Liss, Inc.