bluuebunny/crossref_metadata_2025_split huggingface dataset:
Allogeneic Stem-Cell Transplantation May Overcome the Adverse Prognosis of Unmutated VH Gene in Patients With Chronic Lymphocytic Leukemia
Authors: Moreno Carol , Villamor Neus , Colomer Dolors , Esteve Jordi , Martino Rodrigo , Nomdedéu Josep , Bosch Francesc , López-Guillermo Armando , Campo Elías , Sierra Jorge , Montserrat Emili 
Published: April 2005

Purpose To investigate whether allogeneic stem-cell transplantation (allo-SCT) may overcome the negative impact of unmutated VH genes in the outcome of patients with chronic lymphocytic leukemia (CLL). Patients and Methods We analyzed the outcome of patients who underwent SCT according to their VH mutational status. Results Thirty-four patients (14 allo-SCT and 20 autologous SCT [auto-SCT]) presented unmutated VH genes and 16 patients presented mutated VH genes (nine allo-SCT and seven auto-SCT). Tumoral burden pre-SCT was significantly higher in the allo-SCT patients independent of the VH mutational status. The risk of relapse was significantly higher after auto-SCT (5-year risk, 61%; 95% CI, 44% to 84%) than after allo-SCT (5-year risk 12%, 95% CI, 3% to 44%; P < .05). In the unmutated group, 13 of 20 auto-SCT and two of 14 allo-SCT patients experienced disease progression, with a risk of relapse at 5 years of 66% (95% CI, 48% to 93%) v 17% (95% CI, 5% to 60%), respectively (P = .01). Conclusion These results show that allo-SCT may overcome the unfavorable effect of unmutated VH genes in patients with CLL.
Impact of Three Courses of Intensified CHOP Prior to High-Dose Sequential Therapy Followed by Autologous Stem-Cell Transplantation As First-Line Treatment in Poor-Risk, Aggressive Non-Hodgkin's Lymphoma: Comparative Analysis of Dutch-Belgian Hemato-Oncology Cooperative Group Studies 27 and 40
Authors: van Imhoff Gustaaf W. , van der Holt Bronno , MacKenzie Marius A. , van′t Veer Mars B. , Wijermans Pierre W. , Ossenkoppele Gerrit J. , Schouten Harry C. , Sonneveld Pieter , Steijaert Monique M.C. , Kluin Philip M. , Kluin-Nelemans Hanneke C. , Verdonck Leo F. 
Published: April 2005

Purpose Timing, appropriate amount, and composition of treatment before high-dose therapy and autologous stem-cell transplantation (ASCT) in patients with poor-risk, aggressive non-Hodgkin's lymphoma (NHL) are still unknown. We conducted two consecutive multicenter phase II trials with up-front, high-dose, sequential chemotherapy and ASCT in poor-risk, aggressive NHL. Both trials had identical inclusion criteria and only differed in amount and duration of induction treatment before ASCT. Patients and Methods Between 1994 and 2001, 147 newly diagnosed, poor-risk, aggressive NHL patients, age ≤ 65 years with stage III to IV and lactate dehydrogenase (LDH) more than 1.5× upper limit of normal (ULN), entered the Dutch-Belgian Hemato-Oncology Cooperative Group (HOVON) -27 and HOVON-40 trials. Treatment in HOVON-27 consisted of two up-front, high-dose induction courses followed by carmustine, etoposide, cytarabine, and melphalan plus ASCT in responding patients. In HOVON-40, the same treatment was preceded by three intensified courses of cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP). Results Patient characteristics in both trials were comparable: 80% had diffuse large B-cell lymphoma, 77% had stage IV disease, and median LDH levels were 3.1× ULN. Complete remission (CR) in both trials was 45% to 51%. Before ASCT, CR was 14% in HOVON-27 versus 28% in HOVON-40 (P = .03). Treatment failure was similar (27%). Four-year survival estimates in HOVON-27 compared with HOVON-40 were overall survival, 21% v 50% (P = .007); event-free survival, 15% v 49% (P = .0001); and disease-free survival, 34% v 74% (P = .008). This different outcome favoring HOVON-40 remained highly significant when correcting for competing risk factors in multivariate analysis. Conclusion In patients with poor-risk, aggressive NHL, addition of intensified CHOP before up-front, high-dose, sequential therapy and ASCT significantly improved the duration of response and survival.
Synthesis of Fine Mg1−xCaxFe2O4 Ferrite Powder Having High Heat Ability under AC Magnetic Field
Authors: Aono Hiromichi , Hirazawa Hideyuki , Ochi Takayuki , Naohara Takashi , Mori Kensaku , Hattori Yasumasa , Maehara Tsunehiro , Kikkawa Hiroyuki , Watanabe Yuji 
Published: April 2005

Abstract
Fine Mg1−xCaxFe2O4 ferrite powders for local thermal coagulation therapy were synthesized by a reverse coprecipitation method. The enhancement of temperature under an AC magnetic field was improved by the partial Ca2+ substitution. A high heat ability was obtained for the samples calcined at 300 and 800 °C.
“Sorp‐vection”: An unusual membrane‐based separation
Authors: Damle Shilpa , Koros W. J. 
Published: April 2005

AbstractA nonstandard membrane process is described that involves highly selective sorption of a compound “A” at a large absolute weight fraction ωA, coupled with a significant diffusionally induced flux of a second component “B.” The flux of B convectively moves A from a dilute external mass fraction relative to component B upstream to an enriched mass fraction downstream. The general form of the process has potential applications involving dilute feeds where current membranes processes perform poorly for such removal as a result of excessive solubility of the smaller component B. The most important widespread application is expected to be the separation of small organic solutes from supercritical carbon dioxide to facilitate the recycling and reuse of CO2 while minimizing costly and energy‐intensive recompression steps. We consider the utility of this concept by modeling the separation efficiency of phenol from supercritical carbon dioxide. © 2005 American Institute of Chemical Engineers AIChE J, 2005
Molecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome
Authors: Le Meur Nathalie , Goldenberg Alice , Michel‐Adde Christine , Drouin‐Garraud Valérie , Blaysat Gérard , Marret Stéphane , Amara Saad Abu , Moirot Hélène , Joly‐Hélas Géraldine , Mace Bertrand , Kleinfinger Pascale , Saugier‐Veber Pascale , Frébourg Thierry , Rossi Annick 
Published: April 2005

AbstractHolt–Oram syndrome, the major “heart–hand” syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. The transmission is autosomal dominant and the causative gene has been shown to be TBX5, located on 12q24.1, which encodes a transcription factor. Genetic heterogeneity has been suggested by several reports. We identified a 14(q23.3 ∼ 24.2q31.1) deletion in a boy presenting severe bilateral asymmetrical radial aplasia, congenital heart defects, and developmental delay. This deletion, whose size could be estimated to be 9.6–13.7 Mb, was shown to be inherited via his mother's interchromosomal insertion. This is the second report of a chromosome 14 interstitial deletion associated with clinical features of Holt–Oram syndrome. These observations suggest the existence of a new “heart–hand” locus on chromosome 14q. © 2005 Wiley‐Liss, Inc.
Subtelomere deletions and translocations are frequently familial
Authors: Adeyinka Adewale , Adams S. Annie , Lorentz Cindy P. , Van Dyke Daniel L. , Jalal Syed M. 
Published: April 2005

AbstractIn recent years, strategies have been developed to investigate the possible role of chromosomal subtelomere regions in genetic disorders. The present study was to determine the incidence of familial subtelomeric abnormalities among individuals with developmental delay, idiopathic mental retardation, or non‐specific congenital abnormalities. A review was conducted for patients and their relatives on whom subtelomeric DNA fluorescence in situ hybridization (telo‐FISH) studies were performed. Patients were identified through a search of the Mayo Genetics System (MGS) database. Of 2,170 consecutive telo‐FISH index case studies completed in our laboratory between January 2002 and December 2003, 121 or 5.6% had abnormalities of the subtelomere region. The present report includes 18 other abnormal index cases seen prior to 2002 to yield a total of 139 abnormal index cases. This represents 71 index patients with deletions, 53 index patients with derivative chromosomes, and 15 index patients with balanced rearrangements. A familial abnormality was identified in 29 (51.8%) of 56 families in whom parents and/or sibs were available for testing. Among 28 patients with deletions, 9 (32%) had an inherited deletion, whereas 19 (68%) were de novo. Family members of 20 index patients with derivative chromosomes were tested. Of these, 13 (65%) patients inherited the abnormality from a parent (12 from a parent who had a balanced translocation and 1 from a parent with the same abnormality), while 7 (35%) apparently arose de novo. Seven (88%) of 8 with balanced translocations inherited the translocation from one parent. The most common familial abnormalities involved 8pter deletion or rearrangement. The incidence of familial subtelomeric abnormalities is significantly high making parental telo‐FISH studies an essential part of the investigation of patients with subtelomeric chromosome abnormalities. © 2005 Wiley‐Liss, Inc.
A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome
Authors: Hur David J. , Raymond Gerald V. , Kahler Stephen G. , Riegert‐Johnson Douglas L. , Cohen Bernard A. , Boyadjiev Simeon A. 
Published: April 2005

AbstractKeutel syndrome (KS) [OMIM 245150] is a rare autosomal recessive condition, characterized by abnormal cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been previously reported in three unrelated KS families. MGP is an extracellular matrix protein that acts as a calcification inhibitor by repressing bone morphogenetic protein 2 (BMP2). Loss‐of‐function mutations of MGP result in abnormal calcification of the soft tissues, a cardinal feature of KS. We report the fourth MGP mutation (IVS2 + 1G > A) in a consanguineous Arab family, which results in the loss of the consensus donor splice site at the exon 2–intron 2 junction. In addition to the typical manifestations, we observed abnormalities in the white matter of the brain, optic nerve atrophy, and mid‐dermal elastolysis in the affected individuals of this family. This report broadens the clinical phenotype observed in patients with KS. The effect of the IVS2 + 1G > A mutation is consistent with the previously reported loss‐of‐function mutations of MGP. © 2005 Wiley‐Liss, Inc.
Physician exposure to and attitudes toward advertisements for genetic tests for inherited cancer susceptibility
Authors: Vadaparampil Susan Thomas , Wideroff Louise , Olson Lorayn , Viswanath K. , Freedman Andrew N. 
Published: April 2005

AbstractCommercial marketing materials may serve as a source of information for physicians about genetic testing for inherited cancer susceptibility (GTICS) in addition to medical guidelines, continuing education, and journal articles. The primary purposes of this study were to: (1) determine the percentage of physicians who received advertisements for GTICS early in the diffusion of commercial GTICS (1999–2000); (2) assess associated characteristics; and (3) measure the perceived importance of commercial advertisements and promotions in physicians' decisions to recommend testing to patients. A nationally representative, stratified random sample of 1,251 physicians from the American Medical Association (AMA) Physician Masterfile completed a 15–20 min mixed mode questionnaire that assessed specialty, previous use of genetic tests, practice characteristics, age, and receipt of advertising materials (response rate = 71%). Overall, 27.4% (n = 426) had received advertisements. In multivariate analysis, factors associated with receipt of advertisements included: specialties in obstetrics/gynecology, oncology, or gastroenterology; past GTICS use, and age 50+. One of four felt that advertisements would be important in their decision to recommend GTICS. Study results indicate that physicians, particularly in oncology, obstetrics/gynecology, and gastroenterology, began receiving GTICS advertisements commensurate with the early diffusion of commercially available tests into clinical practice. At that time, one‐quarter of the physicians considered advertisements to play an important role in their clinical decision making, suggesting attention to other sources of information and additional factors. Published 2005 Wiley‐Liss, Inc.
An unusual reciprocal translocation detected by subtelomeric FISH: Interstitial and not terminal
Authors: Riegel Mariluce , Baumer Alessandra , Süss Jochen , Schinzel Albert 
Published: April 2005

AbstractAn 11‐month‐old boy with a pattern of dysmorphic signs, an atrial septal defect, right inguinal hernia, bilateral undescended testes, bilateral urinary reflux, right renal dysplasia, and developmental delay had an abnormal chromosome 11 with additional material of unknown origin attached to the long arm in his karyotype. The paternal karyotype was normal 46,XY, while the mother's karyotype was 46,XX,t(2;11)(q35;q24.2). Thus, a reciprocal terminal exchange was assumed resulting in duplication of distal 2q material and a small subterminal 11q deletion. However, application of subtelomeric fluorescence in situ hybridization (FISH) probes indicated that the translocation was not a terminal reciprocal exchange, but was interstitial at least for one of the chromosomes, which would be highly unusual since most interstitial translocations are non‐reciprocal. Based on the results of FISH and microsatellite marker examinations, the designation of the breakpoints and thus of the deleted and duplicated segments had to be revised. The findings have implications for karyotype‐phenotype correlation. © 2005 Wiley‐Liss, Inc.
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
Authors: Hirayama‐Yamada Kayoko , Kamisago Mitsuhiro , Akimoto Kaoru , Aotsuka Hiroyuki , Nakamura Yoshihide , Tomita Hideshi , Furutani Michiko , Imamura Shin‐ichiro , Takao Atsuyoshi , Nakazawa Makoto , Matsuoka Rumiko 
Published: April 2005

AbstractRecently, GATA4 and NKX2.5 were reported as the disease genes of atrial septal defect (ASD) but the relationship between the locations of their mutations and phenotypes is not clear. We analyzed GATA4 and NKX2.5 mutations in 16 familial ASD cases, including four probands with atrioventricular conduction disturbance (AV block) and two with pulmonary stenosis (PS), by PCR and direct sequencing, and examined their phenotypes clinically. Five mutations, including two GATA4 and three NKX2.5 mutations, were identified in 31.3% of the probands with ASD, and three of them were novel. The two GATA4 mutations in the probands without AV block were S52F and E359Xfs (c.1075delG) that was reported previously, and three NKX2.5 mutations in the probands with AV block were A88Xfs (c.262delG), R190C, and T178M. Additionally, we observed some remarkable phenotypes, i.e., dextrocardia with E359Xfs (c.1075delG) and cribriform type ASD with R190C, both of which are expected to be clues for further investigations. Furthermore, progressive, most severe AV block was closely related with a missense mutation in a homeodomain or with a nonsense/frame‐shift mutation of NKX2.5 for which classification has not been clearly proposed. This pinpoints essential sites of NKX2.5 in the development of the conduction system. © 2005 Wiley‐Liss, Inc.
Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four sibs
Authors: Hoffman J.D. , Jacobson Z. , Young T.L. , Marshall J.D. , Kaplan Paige 
Published: April 2005

AbstractAlström syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing loss, morbid obesity, male hypogonadism, insulin resistant diabetes, renal failure, and dilated cardiomyopathy. We report on four sibs with Alström syndrome with intra‐familial variability in onset, severity, and spectrum of manifestations; the most serious manifestation being dilated cardiomyopathy. This report emphasizes the difficulty of recognizing this constellation of symptoms as Alström syndrome at an early age, the seriousness of cardiac involvement, and the intra‐familial variability of phenotypic expression. © 2005 Wiley‐Liss, Inc.
Craniofacial defects of blastogenesis: Duplication of pituitary with cleft palate and orophgaryngeal tumors
Authors: Slavotinek Anne , Parisi Melissa , Heike Carrie , Hing Anne , Huang Eric 
Published: April 2005

AbstractDuplications of organs and/or tissues are rare in morphogenesis and have frequently been attributed to incomplete twinning. To further elucidate the phenotypes associated with organ duplications, we present three infants with duplication of the pituitary gland (DPG). A review of previously reported cases with DPG showed that the commonest additional findings were hypothalamic enlargement, a broad or duplicated sella, cleft palate, hypertelorism, oropharyngeal tumors, agenesis or hypoplasia of the corpus callosum, and abnormalities of vertebrae. DPG and additional malformations constitute a distinct and recognizable pattern of anomalies, which may constitute a polytopic field defect due to splitting of the notochord. However, the precise inductive mechanism resulting in DPG remains unknown. © 2005 Wiley‐Liss, Inc.
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome
Authors: García‐Ortiz Jose E. , Banda‐Espinoza Felipe , Zenteno Juan C. , Galván‐Uriarte Luz M. , Ruiz‐Flores Pablo , García‐Cruz Diana 
Published: April 2005

AbstractSplit hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation that may be isolated or associated with other malformations. More than 50 recognizable entities with SHFM have been described and at least 5 mapped genetic loci have been implicated. Two brothers with intrauterine growth retardation, short stature, distinctive face, microphthalmia, genital anomalies, and SHFM are described. Molecular analyses of TP63, HOXA13, and HOXD13 genes were normal. We propose this pattern to be a newly recognized SHFM syndrome. © 2005 Wiley‐Liss, Inc.
Amino acid recognition by Venus flytrap domains is encoded in an 8‐residue motif
Authors: Acher Francine C. , Bertrand Hugues‐Olivier 
Published: April 2005

AbstractA motif foramino acid recognition by proteins or domains of the periplasmic binding protein‐like I superfamily has been identified. An initial pattern of 5 residues was based on a multiple sequence alignment of selected proteins of that fold family and on common structural features observed in the crystal structure of some members of the family [leucine isoleucine valine binding protein (LIVBP), leucine binding protein (LBP), and metabotropic glutamate receptor type 1 (mGlu1R) amino terminal domain)]. This pattern was used against the PIR‐NREF sequence database and further refined to retrieve all sequences of proteins that belong to the family and eliminate those that do not belong to it. A motif of 8 residues was finally selected to build up the general signature. A total of 232 sequences were retrieved. They were found to belong to only three families of proteins: bacterial periplasmic binding proteins (PBP, 71 sequences), family 3 (or C) of G‐protein coupled receptor (GPCR) (146 sequences), and plant putative ionotropic glutamate receptors (iGluR, 15 sequences). PBPs are known to adopt a bilobate structure also named Venus flytrap domain, or LIVBP domain in the present case. Family 3/C GPCRs are also known to hold such a domain. However, for plant iGluRs, it was previously detected by classical similarity searches but not specifically described. Thus plant iGluRs carry two Venus flytrap domains, one that binds glutamate and an additional one that would be a modulatory LIVBP domain. In some cases, the modulator binding to that domain would be an amino acid. © 2005 Wiley Periodicals, Inc. Biopolymers (Pept Sci), 2005
Enzymatic incorporation of orthogonally reactive prenylazide groups into peptides using geranylazide diphosphate via protein farnesyltransferase: Implications for selective protein labeling
Authors: Rose Matthew W. , Xu Juhua , Kale Tamara A. , O'Doherty George , Barany George , Distefano Mark D. 
Published: April 2005

AbstractProtein farnesyltransferase (PFTase) catalyzes the attachment of a geranyl azide moiety to a peptide substrate, N‐dansyl–Gly–Cys–Val–Ile–Ala–OH. The resulting azide‐containing peptide was derivatized with a triphenylphosphine‐based reagent to generate an O‐alkyl imidate‐linked product, rather than the amide‐linked material expected via a Staudinger reaction. Since the CAAX box recognition motif (where the internal A residues are aliphatic amino acids) modified by PFTase can be incorporated into the C‐terminus of virtually any polypeptide, this two‐step procedure provides a general method for incorporating a diverse range of chemical modifications specifically near the C‐terminus of proteins. © 2005 Wiley Periodicals, Inc. Biopolymers (Pept Sci), 2005
Medium-term results of vertical reduction rectoplasty and sigmoid colectomy for idiopathic megarectum
Authors: Gladman M A , Williams N S , Scott S M , Ogunbiyi O A , Lunniss P J 
Published: April 2005

AbstractBackgroundVertical reduction rectoplasty (VRR) was devised specifically to address the physiological abnormalities present in the rectum of patients with idiopathic megarectum (IMR). This study evaluated the medium-term clinical and physiological results of VRR.MethodsVRR and sigmoid colectomy was performed in ten patients with IMR and constipation (six women). Patients were evaluated before and a median of 60 (range 28–74) months after surgery by assessment of symptoms using scoring systems and anorectal physiological measurements. Independent, detailed postoperative evaluation of rectal diameter, compliance, and sensory and evacuatory function was performed.ResultsThere were no deaths or late complications. Symptoms recurred necessitating permanent ileostomy formation in two patients. Median (range) constipation scores improved from 22 (18–27) before to 10 (0–24) after surgery (P = 0·016). Median (range) bowel frequency increased from 1·5 (0·2–7) to 7 (0·5–21) per week (P = 0·016). Rectal diameter, compliance and sensory function were normal in seven of eight patients after surgery. Evacuatory function and colonic transit were each normalized in two of eight patients after VRR.ConclusionVRR corrected rectal diameter, compliance and sensory function in most patients, and clinical benefit was sustained in the medium term. The procedure was associated with a low morbidity, and no mortality and should be considered in the surgical management of IMR.
Effect of supervised surgical training on outcomes after resection of colorectal cancer
Authors: Renwick A A , Bokey E L , Chapuis P H , Zelas P , Stewart P J , Rickard M J F X , Dent O F 
Published: April 2005

Abstract

Background
The process of training surgeons in technique for resection of colorectal cancer should not compromise patient care or outcomes. The aim of this study was to compare morbidity, mortality and survival rates after resection performed by trainees with those for a consultant surgeon.

Methods
Outcomes for 150 patients operated on by a single colorectal surgeon at a private hospital were compared with those of 344 patients admitted under the same surgeon and operated on by closely supervised trainee surgeons in a public teaching hospital between 1995 and 2002.

Results
Co-morbidity was significantly more common in patients operated on by trainees; their American Society of Anesthesiologists grades were higher and tumours were more advanced. Of 16 postoperative complications evaluated, only respiratory and cardiac problems were significantly more common in patients operated on by trainees. There was no difference in operative mortality, local recurrence or 2-year survival rate after adjustment for age and tumour stage.

Conclusion
Outcomes after resection for colorectal cancer did not differ between the consultant and trainees in the context of a closely supervised training programme.