bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital diaphragmatic hernia associated with duplication of 11q23‐qter
Authors: Klaassens M. , Scott D.A. , van Dooren M. , Hochstenbach R. , Eussen H.J. , Cai W.W. , Galjaard R.J. , Wouters C. , Poot M. , Laudy J. , Lee B. , Tibboel D. , de Klein A. 
Published: June 2006

AbstractCongenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about its etiology, there is increasing evidence for a strong genetic contribution. Both numerical and structural chromosomal abnormalities have been described in patients with CDH. Partial trisomy 11q and partial trisomy 22 associated with the common t(11;22) has been reported in several cases of CDH. It has been assumed that the diaphragmatic defect seen in these individuals was primarily due to duplication of material from chromosome 22q11. However, in this report we describe a family with a t(11;12) in which one of two brothers with partial trisomy 11q has a left sided posterolateral CDH. This is the second case of CDH in partial trisomy 11q due to an unbalanced translocation other than t(11;22). Using array‐based comparative genomic hybridization and fluorescent in situ hybridization, we mapped the breakpoints in both brothers and their mother who is a balanced translocation carrier. Our results suggest that duplication of one or more genes on a ∼19 Mb region of 11q23.3‐qter predisposes to the development of CDH. These effects may be the primary cause of CDH in individuals t(11;22) or may be additive to effects from the duplication of chromosome 22 material. We also conclude that the partial trisomy 11q syndrome has a variable phenotype and that CDH should be added to the spectrum of anomalies that can be present in this syndrome. © 2006 Wiley‐Liss, Inc.
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies
Authors: Shuman Cheryl , Smith Adam C. , Steele Leslie , Ray Peter N. , Clericuzio Carol , Zackai Elaine , Parisi Melissa A. , Meadows Anna T. , Kelly Thaddeus , Tichauer David , Squire Jeremy A. , Sadowski Paul , Weksberg Rosanna 
Published: June 2006

AbstractIsolated hemihyperplasia (IH) refers to a distinct diagnosis involving asymmetric overgrowth of single or multiple organs or regions of the body and can result from various genomic changes including molecular alterations of 11p15; these are paternal uniparental disomy (UPD), and alterations of methylation at two imprinting centers at 11p15: IC1 (H19) and IC2 (KCNQ1OT1). As little information is available on the molecular basis of tumor development in IH, or on the frequency of tumors in children with different molecular subtypes of IH, molecular testing was undertaken on 51 patients with IH and revealed: 8 (16%) with UPD, 3 (6%) with hypomethylation at KCNQ1OT1, and 0 with hypermethylation at H19. Of the 8 patients with UPD, 4 had tumors (3 hepatoblastomas, 1 Wilms tumor); 0/3 patients with hypomethylation at KCNQ1OT1 had a tumor; of the remaining 40 with no molecular alterations, 6 had tumors (3 Wilms tumors, 2 neuroblastomas, 1 adrenocortical adenoma). The 50% tumor frequency in patients with IH and UPD was statistically significantly higher than the 15% tumor frequency in those with IH and no molecular alteration detected (Fisher's exact test P = 0.047, OR 5.67). This is the first demonstration that UPD at 11p15 in patients with IH confers a higher tumor risk than in patients with IH without this molecular change. Of note, two of the eight patients with UPD and IH were conceived using assisted reproductive technologies (ART), thus raising the question whether ART might impact the rate of somatic recombination during embryonic development. © 2006 Wiley‐Liss, Inc.
Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect
Authors: Takagishi Jennifer , Rauen Katherine A. , Drumheller Timothy , Kousseff Boris , Sutcliffe Maxine 
Published: June 2006

Abstract3p25 deletion syndrome is characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia. Of the 42 persons with this deletion syndrome cited in the literature, only 2 patients, a mother–daughter pair, have previously been reported without apparent clinical consequence. We present a second mother–daughter dyad with a terminal 3p25.3–3pter deletion, who present with only mild clinical effects. In addition to cytogenetic analysis, array CGH was performed to determine the breakpoints at the molecular level. Our data show that the 3p25 deletion syndrome may, therefore, reflect a much broader phenotypic spectrum than previously recognized. © 2006 Wiley‐Liss, Inc.
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
Authors: Chen Chih‐Ping , Lin Shuan‐Pei , Lin Chyi‐Chyang , Chen Yann‐Jang , Chern Schu‐Rern , Li Yueh‐Chun , Hsieh Lie‐Jiau , Lee Chen‐Chi , Pan Chen‐Wen , Wang Wayseen 
Published: June 2006

AbstractAn 11‐year‐old girl presented with the phenotype of microcephaly, moderate mental retardation, motor retardation, short stature, strabismus, brachydactyly, and facial dysmorphism. She had undergone surgery for inguinal hernias. Detailed examinations of the heart and other internal organs revealed normal findings. Her karyotype was 46,XX,dup(5)(q35.2q35.3) de novo. Molecular cytogenetic analysis showed a paternally derived 5q35.2 → q35.3 direct duplication and led to a correlation between the particular genotype and phenotype. This is the first description of a direct duplication of 5q35.2 → q35.3. Our case represents the smallest distal duplication of chromosome 5q that is not associated with congenital heart defects. Our case also represents the smallest distal duplication of chromosome 5q that is associated with short stature and microcephaly. Mutations or deletions of the NSD1 gene, mapped to 5q35.2 → q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth. Our case provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature. © 2006 Wiley‐Liss, Inc.
“Stereotypic” delusional offending
Authors: Junginger John 
Published: June 2006

AbstractSome patients with serious mental illness appear to respond violently to the same delusional content throughout the course of their illness. Anecdotal, empirical, and theoretical evidence is presented establishing the premise of “stereotypic” delusional offending. A method for measuring the similarity of two delusions separated in time also is presented. An empirical focus on stereotypic delusional offending may help identify more accurately persons at risk for violence and those at risk for becoming targets of violence. It also may provide a better understanding of successful treatment of outpatient violence and conceivably could inform the ongoing debate on involuntary outpatient commitment laws. Among the major issues of this debate in the United States are the potential benefits of a forced medication provision. One rationale for such a provision may be found in the treatment response of seriously mentally ill outpatients whose violent behavior appears inescapably tied to their persistent or recurrent delusions. Copyright © 2006 John Wiley & Sons, Ltd.
Paranoia in the criminal courts
Authors: Gunn John , Buchanan Alec 
Published: June 2006

AbstractIt is generally accepted that those who suffer from mental illness are less responsible for their criminal actions than others. A fictitious case of a woman suffering from a paranoid psychosis, who severely injures her legal advisor, is considered in two different but related jurisdictions, England & Wales and Connecticut, USA. Four elements of the criminal process are considered. Significant differences between the jurisdictions are found in all four elements. There is greater pragmatism in the English system and a greater chance of the woman ending up in long‐term hospital care, but both systems aim to prevent further violence by the use of institutionalisation. International and intra‐national variations in the care of this hypothetical woman are briefly discussed, and it is clear that in both countries medical care is compromised by attitudinal and political considerations. Copyright © 2006 John Wiley & Sons, Ltd.
The application of civil commitment law and practices to a case of delusional disorder: a cross‐national comparison of legal approaches in the United States and the United Kingdom
Authors: Fennell Philip , Goldstein Robert Lloyd 
Published: June 2006

AbstractLegal approaches to civil commitment in the United States and the United Kingdom are compared. A concise overview of the historical evolution of civil commitment in both countries precedes a discussion of the present scheme of commitment standards in each system. These current standards in U.S. and U.K. jurisdictions are then applied to a hypothetical case of delusional disorder. A discussion of the constructive use of civil commitment in patients with delusional disorder who may be dangerous focuses on its value as a preventive measure against potential harm to self or others, as well as the pros and cons of coercive assessment and treatment. Despite the many differences in approach to commitment, the authors concur that in both countries the patient with delusional disorder was committable before the commission of a serious criminal offense. Copyright © 2006 John Wiley & Sons, Ltd.
A hypothetical clinical vignette of delusional disorder: how potential legal issues could be addressed in the United Kingdom and the United States
Authors: Taylor Pamela J. , Felthous Alan R. 
Published: June 2006

AbstractOne of the major difficulties in presenting an international perspective on delusional disorders and their impact on offending or violent behaviour is that no two legal systems are quite the same, and there are substantial differences between some of them; in addition, there is international variation in relevant service provision or use. We therefore invited several experts practising in forensic mental health services or the law to consider the following case and to use relevant literature, statute and case law to draw out similarities and differences in process and management of the following case. Annie Smith is not a real person; the things that happened really occurred. Copyright © 2006 John Wiley & Sons, Ltd.
Clinical assessment of a new real time 3D quantitative coronary angiography system: Evaluation in stented vessel segments
Authors: Gradaus Rainer , Mathies Klara , Breithardt Günter , Böcker Dirk 
Published: June 2006

AbstractBackground: Foreshortening is a recognized problem that is present in angiography and results from views that are not perpendicular to coronary lesions. This limits visual coronary analysis as well as 2D quantitative coronary angiography systems (QCA). The CardiOp‐B System® is a 3D image acquisition and processing software system designed as an add‐on to conventional X‐ray angiography system. CardiOp‐B's features include real time and off line analysis with comprehensive 3D reconstruction integrating all of the available information of two 2D vessel angiographies into one 3D image. It was the aim of the study to analyze the accuracy of this new 3D QCA system. Methods: 3D QCA was performed in 50 patients (age 64 ± 10.9; 84% male; LV‐EF 63 ± 16%) measuring 61 stents during high‐pressure inflation (diameter: 2.25–4 mm; length: 8–32 mm). The obtained values (proximal and distal stent diameter, stent length) were correlated with the predefined size of the stents at the used inflation pressure. Results: The linear correlation for the proximal stent diameter was Stentprox= 0.03 + 0.93 × real stent size (r2 = 0.85). The linear correlation for the distal stent diameter was Stentdistal= −0.03 + 0.89 × real stent size (r2 = 0.81). The linear correlation for the stent length was Stentlength= −0.61 + 1.02 × real stent length (r2 = 0.98). Conclusions: The CardiOp‐B System® is a new 3D QCA system with a high linear correlation between the real vessel size and the obtained vessel dimension. It provides real time or off line accurate and comprehensive diagnostic information to the interventional cardiologist without changing the basic coronary angiography procedure. © 2006 Wiley‐Liss, Inc.
Sugar‐Assisted Kinetic Resolution of Amino Acids and Amplification of Enantiomeric Excess of Organic Molecules
Authors: Córdova Armando , Sundén Henrik , Xu Yongmei , Ibrahem Ismail , Zou Weibiao , Engqvist Magnus 
Published: June 2006

AbstractThe origins of biological homochirality have intrigued researchers since Pasteur's discovery of the optical activity of biomolecules. Herein, we propose and demonstrate a novel alternative for the evolution of homochirality that is not based on autocatalysis and forges a direct relationship between the chirality of sugars and amino acids. This process provides a mechanism in which a racemic mixture of an amino acid can catalyze the formation of an optically active organic molecule in the presence of a sugar product of low enantiomeric excess.
Aberrant promoter methylation of multiple genes in malignant ovarian tumors and in ovarian tumors with low malignant potential
Authors: Wiley Andrew , Katsaros Dionyssios , Chen Haigang , Rigault de la Longrais Irene A. , Beeghly Alicia , Puopolo Manuela , Singal Rakesh , Zhang Yan , Amoako Agyenim , Zelterman Daniel , Yu Herbert 
Published: June 2006

AbstractBACKGROUND.Methylation‐mediated suppression of detoxification, DNA repair, and tumor suppressor genes has been implicated in cancer development and progression. Studies also have indicated that concordant methylation of multiple genes (methylator phenotypes), rather than a single gene, may predict cancer prognosis. The current study was designed to determine whether a methylator phenotype exists in ovarian cancer, whether methylation frequencies differ between malignant ovarian tumors and ovarian tumors with low malignant potential (LMP or borderline), and whether methylation of multiple genes affects patient survival.METHODS.The current study included 234 consecutively diagnosed patients with either LMP (n = 19 patients) or malignant (n = 215 patients) ovarian tumors. DNA samples were extracted from fresh frozen tissues and were analyzed for methylation in the promoter region of 6 genes (p16, breast cancer 1 [BRCA1], insulin‐like growth factor‐binding protein 3 [IGFBP‐3], glutathione S‐transferase π 1 [GSTP1], estrogen receptor‐α [ER‐α], and human MutL homologue 1 [hMLH1]) by using methylation‐specific polymerase chain reaction analysis.RESULTS.The frequencies of methylation in malignant tumors and LMP tumors were 0% and 0% for GSTP1, respectively; 9% and 0% for hMLH1, respectively; 21% and 5% for BRCA1, respectively; 42% and 21% for p16, respectively; 44% and 26% for IGFBP‐3, respectively; and 57% and 42% for ER‐α, respectively. A methylator phenotype was not detected, but a calculated methylation index (MI) that was based on the total number of genes methylated in each tumor was associated with ovarian cancer risk and progression. A higher MI was associated with malignant tumors (odds ratio, 10.11; 95% confidence interval [95% CI], 1.19–85.75) and disease progression (hazards ratio, 6.53; 95% CI, 1.39–30.65).CONCLUSIONS.Although a methylator phenotype was not identified, the current results suggested that methylation of multiple genes may play an important role in ovarian cancer development and progression and may have clinical implications in prognosis. Cancer 2006. © 2006 American Cancer Society.
DNA ploidy compared with human papilloma virus testing (Hybrid Capture II) and conventional cervical cytology as a primary screening test for cervical high‐grade lesions and cancer in 1555 patients with biopsy confirmation
Authors: Guillaud Martial , Benedet John L. , Cantor Scott B. , Staerkel Gregg , Follen Michele , MacAulay Calum 
Published: June 2006

AbstractBACKGROUND.Because 80% of cervical cancers arise in low‐resource settings, many inexpensive strategies are being tested. In that spirit, the authors are testing large‐scale genomic or DNA ploidy measurements as an inexpensive and semiautomated strategy.METHODS.Patients entered either a screening or diagnostic study of several optical technologies: quantitative cytology, quantitative histopathology, and fluorescence and reflectance spectroscopy using a point probe, a multispectral digital colposcope, or a combination of the two. We calculated sensitivities, specificities, positive and negative predictive values, and their confidence interval testing conventional cytology, Hybrid Capture (HC) II testing, and DNA ploidy measured on the Feulgen‐stained quantitative Pap smear.RESULTS.The current investigation reports on 1555 patients for whom colposcopically directed biopsies were read 3 times by study pathologists. The final histopathologic diagnosis was high grade (cervical intraepithelial neoplasia [CIN] 2, CIN 3, carcinoma in situ [CIS], and cancer) in 16% of patients. Using high‐grade squamous intraepithelial lesions (SILs) histopathology as the threshold and gold standard, the sensitivity and specificity, respectively, were: 0.47 and 0.96 for conventional cytology, 0.91 and 0.80 for HC II, and 0.59 and 0.93 for DNA ploidy. The positive and negative predictive values (PPV, NPV) for conventional cytology were 0.70 and 0.90, 0.46 and 0.98 for HC II, and 0.63 and 0.92 for DNA ploidy.CONCLUSIONS.DNA ploidy shows comparable sensitivity, specificity, PPV, and NPV values to conventional cytology and HC II. Unlike conventional cytology, DNA ploidy is semiautomated and can be performed in less than 8 hours. Cost effectiveness studies are under way, but in the authors' laboratory DNA ploidy is inexpensive. Cancer 2006. © 2006 American Cancer Society.
Obesity and survival after radical prostatectomy: A 10‐year prospective cohort study
Authors: Siddiqui Sameer A. , Inman Brant A. , Sengupta Shomik , Slezak Jeffrey M. , Bergstralh Eric J. , Leibovich Bradley C. , Zincke Horst , Blute Michael L. 
Published: June 2006

AbstractBACKGROUND.Obesity and prostate cancer are among the most common health problems affecting American men today. The authors' goal was to assess the impact of obesity on clinical and pathologic features of prostate cancer and long‐term outcomes.METHODS.The authors performed a prospective cohort study on 5313 men who underwent radical prostatectomy between 1990 and 1999. Patient height and weight were measured at the time of surgery to calculate the body mass index (BMI). The patients were separated into 3 BMI groups: BMI <25, 25–29.9, and ≥30 kg/m2. The associations between BMI and age, prostate‐specific antigen (PSA) level, and Gleason score were assessed with the Spearman rank correlation test. The associations between BMI and pathologic features were assessed with the Mantel–Haenszel χ2 test. Fifteen‐year biochemical progression‐free survival, systemic progression‐free survival, cancer‐specific survival, and overall survival were estimated using the Kaplan–Meier method and evaluated using Cox models.RESULTS.The median length of follow‐up for the entire cohort was 10.1 years. Clinical and pathologic features appear worse in patients with a higher BMI. On univariate and multivariate analyses, it was found that BMI had no impact on biochemical progression, systemic progression, prostate cancer survival, or overall survival.CONCLUSIONS.Obese patients appear to have worse pathologic features at the time of prostatectomy. Despite these features, long‐term oncologic outcomes, including cancer‐specific survival, remain the same regardless of BMI. BMI appears to influence prostate cancer outcomes at the time of prostatectomy, as evidenced by more aggressive pathologic features. However, after prostatectomy, BMI does not appear to be an independent predictor of recurrence or survival. Cancer 2006. © 2006 American Cancer Society.
Impact of renal impairment on eligibility for adjuvant cisplatin‐based chemotherapy in patients with urothelial carcinoma of the bladder
Authors: Dash Atreya , Galsky Matthew D. , Vickers Andrew J. , Serio Angel M. , Koppie Theresa M. , Dalbagni Guido , Bochner Bernard H. 
Published: June 2006

AbstractBACKGROUND.Perioperative cisplatin‐based chemotherapy has shown benefit in patients with high‐risk localized urothelial bladder cancer, but it is not widely used. Renal impairment may be a major factor limiting its use. The current study was designed to determine the proportion of patients ineligible to receive adjuvant cisplatin‐based chemotherapy based on inadequate renal function alone.METHODS.Patients who underwent radical cystectomy for urothelial cancer of the bladder with evidence of extravesical disease (≥pT3 or any N+) were identified. Patients who received neoadjuvant chemotherapy were excluded. Serum creatinine immediately before and nadir serum creatinine after cystectomy were used to calculate creatinine clearance (CrCl) or glomerular filtration rate (GFR) using the Cockroft‐Gault (CG), Jelliffe, and Modification of Diet in Renal Disease (MDRD) study formulas. A cutoff of CrCl <60 mL/min or GFR <60 mL/min/1.73 m2 was used to determine ineligibility for cisplatin‐based chemotherapy. The proportion of patients ineligible by each formula was compared by univariate logistic regression. Univariate linear regression was performed to determine the effect of age on CrCl or GFR.RESULTS.Most patients were pT3 or greater; 39% were lymph node‐positive. The overall proportion of patients ineligible for cisplatin‐based chemotherapy was 28% by the CG formula, 52% by Jelliffe, and 24% by MDRD. Concordance between formulas was low. With all formulas the probability of ineligibility increased with age: by the CG equation, >40% of patients age >70 years were ineligible.CONCLUSIONS.The widespread use of cisplatin‐based perioperative chemotherapy in patients with high‐risk localized bladder cancer may be significantly limited by the high prevalence of baseline renal insufficiency in this population. This finding is most striking in the elderly. Better selection of patients who may safely receive cisplatin and more effective regimens devoid of cisplatin are required to optimize outcomes in this group of patients. Cancer 2006. © 2006 American Cancer Society.
Effects of low noise amplifier non‐linearities on blind adaptive beamforming performance in CDMA wireless systems
Authors: Dadashzadeh G. , Jedari E. , Hakkak M. , Kamarei M. 
Published: June 2006

AbstractWe report a new approach to analyse the effects of low noise amplifier (LNA) non‐linear distortions in the code division multiple access (CDMA) wireless communication systems using spatio‐temporal analysis and Volterra series theory. For this purpose, the bit error rate (BER) performance of three blind algorithms is studied based on post correlated model of received signal, and a time‐varying multiple vector channel model which is an extended form of the Gaussian wide sense stationary uncorrelated scattering (GWSSUS) channel. By using the Volterra series theory, an analytical expression for amplitude modulation to phase modulation (AM–PM) conversion is determined as a phase statement of LNA compression. In this approach, by combining the analytical expression for AM–PM conversion and CDMA blind beamforming techniques, we evaluate the AM–PM distortion effects on BER performance of a CDMA system originated from multiple non‐linear LNA blocks. Simulation results show that conditions are found to minimize AM–PM conversion introduced by multiple non‐linear blocks in the system leading to low BER. Copyright © 2006 John Wiley & Sons, Ltd.