bluuebunny/crossref_metadata_2025_split huggingface dataset:
FragileXSyndrome
Authors: Hagerman Randi J. 
Published: January 2005

AbstractFragile X syndrome is the most common inherited cause of mental retardation. It is caused by a trinucleotide repeat expansion of three bases that occurs in the fragile X mental retardation 1 gene (FMR1) at Xq27.3. A small expansion, or premutation, has approximately 55–200 CGG repeats and is usually not associated with cognitive deficits. However, a larger expansion or full mutation, greater than 230 CGG repeats, is associated with fragile X syndrome and is associated with typical features such as a long face, prominent ears, macroorchidism, and intellectual deficit. When a full mutation is present, the gene becomes methylated and is not expressed. The overall prevalence in males and females may be as high as 1 in 2000 to 1 in 3000. The spectrum of clinical involvement of fragile X syndrome is quite broad. Classical physical features include large or prominent ears, a long face, high‐arched palate, prognathism in older individuals, hyperextensible finger joints, subluxable thumbs, mitral valve prolapse, large testicles, flat feet, and soft velvet‐like skin.
Holoprosencephaly
Authors: Gropman Andrea L. , Muenke Maximilian 
Published: January 2005

AbstractHoloprosencephaly is the most common developmental defect of the brain and is characterized by failure of the forebrain to divide into two separate hemispheres and ventricles. It encompasses a spectrum of brain malformations along a continuum based on the degree of nonseparation of the hemispheres that includes alobar, semilobar, and lobar holoprosencephaly and syntelencephaly or middle interhemispheric variant. The distinction between these types is not absolute with gradations occurring. Midline craniofacial anomalies, developmental disability, neurologic problems, especially seizures and endocrine and feeding problems are common. Holoprosencephaly occurs as frequently as 1 in 250 in embryos and 1 in 10,000 to 1 in 20,000 live births. Holoprosencephaly is etiologically extremely heterogeneous. Multiple genes contribute to the phenotype. Of live‐born children with holoprosencephaly, up to one half have an associated cytogenetic abnormality, the most common of which is trisomy 13. Teratogens have been linked, particularly maternal diabetes. There are several lines of evidence linking defective cholesterol biosynthesis and holoprosencephaly.
Osteogenesis Imperfecta
Authors: Marini Joan C. , Letocha Anne D. , Chernoff Edith J. 
Published: January 2005

AbstractOsteogenesis imperfecta is an autosomal dominant disorder of connective tissue, commonly known as “brittle bone disease.” The frequency of osteogenesis imperfecta identifiable at birth is estimated to be between 1 in 20,000 and 1 in 30,000. Osteogenesis imperfecta is characterized by bone fragility; affected individuals sustain fractures after very mild trauma. Because osteogenesis imperfecta is a generalized connective tissue disorder, other typical features include blue sclerae, dentinogenesis imperfecta, hearing loss, cardiopulmonary abnormalities, easy bruisability, excessive sweating, and loose joints. Current therapeutic management is discussed.
Proteus Syndrome
Authors: Biesecker Leslie G. 
Published: January 2005

AbstractProteus syndrome is a disorder of segmental or mosaic overgrowth that can affect any tissue. The most common complications include overgrowth that can lead to orthopedic complications, soft tissue overgrowth of the feet, linear nevi, vascular malformations, and tumor predisposition. All confirmed cases are sporadic, and it has been hypothesized that the disorder is caused by a postzygotic mutation in a growth‐promoting gene. Proteus syndrome is rare and overdiagnosed. There are fewer than 100 documented cases in the literature, and many people who carry the diagnosis cannot be confirmed as affected when published diagnostic criteria are rigorously applied.
Rett Syndrome
Authors: Smeets Eric E. , Schrander‐Stumpel Connie T. R. M. 
Published: January 2005

AbstractRett syndrome is a neurodevelopmental disorder related to a defective protein involved in the transcription of methylated deoxyribonucleic acid (DNA). It affects almost exclusively girls. The causative gene has been identified (MECP2). The diagnosis is made clinically, based on internationally accepted criteria that were recently revised. More than 95% of theMECP2mutations occurde novo.An 80% mutation detection rate occurs in individuals with classical Rett syndrome when standard techniques are used to analyze the coding region. In variant Rett syndrome the likelihood of finding a mutation is lower. Early intervention and comprehensive life‐long management of Rett syndrome can significantly improve the health and longevity of affected individuals. Management is optimized by involvement of a multidisciplinary team consisting of many different medical and paramedical specialists and an individualized approach. Parents are an integral part of the team, as they become the greatest experts concerning their affected child's history, behavior, and needs.
Velo‐Cardio‐Facial Syndrome
Authors: Shprintzen Robert J. 
Published: January 2005

AbstractVelo‐cardio‐facial syndrome is the most common contiguous gene syndrome in humans. It has very variable phenotypes but involves the heart, face, palate, and vasculature in the large majority of affected individuals. Behavioral abnormalities, including learning disabilities and psychiatric symptoms, are common. Velo‐cardio‐facial syndrome is caused by a microdeletion of chromosome 22q11.2.
W
agr Syndrome
Authors: Clericuzio Carol L. 
Published: January 2005

Abstract

The WAGR syndrome is a multiple congenital anomaly–mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13. It is a contiguous gene deletion syndrome, and WAGR is an acronym for the primary features: W for
W
ilms tumor, A for
a
niridia, G for
g
enital anomalies, and R for mental
r
etardation. Wilms tumor and male genital anomalies are caused by deletion of the
WT1
tumor‐suppressor gene, and aniridia is caused by deletion of
PAX6
ocular developmental gene. Mental retardation is presumed to be a consequence of deletion of multiple as yet unidentified genes in the region. Most cases are identified by chromosome studies of children with sporadic aniridia and are due to
de novo
deletions of 11p13, although a few familial translocations are reported. Individuals with the WAGR syndrome have a high risk for developing Wilms tumor and late‐onset renal failure, and should be monitored for these complications.
Williams Syndrome
Authors: Morris Colleen A. 
Published: January 2005

AbstractWilliams syndrome has been variably been termed Williams‐Beuren syndrome, idiopathic hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in 1 in 10,000 births. The diagnosis of Williams syndrome is based upon recognition of the characteristic pattern of dysmorphic facial features, developmental delay, short stature relative to the family background, connective tissue abnormality, unique cognitive profile, and typical personality that includes empathy, overfriendliness, attention problems, and anxiety. This disorder is caused by a submicroscopic deletion of chromosome 7q11.23, which arises by unequal crossing over in a chromosome region where there are a large number of repetitive deoxyribonucleic acid (DNA) sequences. The commonly deleted region is approximately 1.5 megabases (Mb), and 21 genes have thus far been mapped within it. Many of the manifestations of Williams syndrome are caused by deletion of the elastin gene.
Wolf‐Hirschhorn (4p‐) Syndrome
Authors: Battaglia Agatino 
Published: January 2005

AbstractWolf‐Hirschhorn syndrome is a multiple congenital anomalies/mental retardation disorder due to deletion of the short arm of chromosome 4. A more complete delineation of the phenotype and better definition of this condition has only been possible in the last two decades. Until recently, it was commonly stated that development is severely compromised in affected individuals, and only recent large studies have allowed recognition of a much wider clinical spectrum.
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation
Authors: Araújo H. Caldeira , Smit W. , Verhoeven N.M. , Salomons G.S. , Silva S. , Vasconcelos R. , Tomás H. , Almeida I. Tavares de , Jakobs C. , Duran M. 
Published: January 2005

AbstractOur study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to the present study. A total of 180 institutionalized patients with a severe mental handicap were investigated for urine and plasma uric acid and creatinine. Patients with an increased urinary uric acid/creatinine ratio and/or decreased creatinine were subjected to the analysis of guanidinoacetate (GAA). Four patients (three related and one from an unrelated family) were identified with GAMT‐deficiency. A fifth patient had died before a biochemical diagnosis could be made. They all had shown a normal psychomotor development for the first year of life, after which they developed a profound mental retardation. Three out of four had convulsions and all four totally lacked the development of speech. Their GAMT activity in lymphoblasts was impaired and two novel mutations were identified: the 59 G > C and 506 G > A missense mutations. Urinary GAA was increased, but highly variable 347–1,624 mmol/mol creat (Controls <150 mmol/mol creat). In plasma and CSF the GAA levels were fairly constant at 17.3–27.0 μmol/L (Controls 1.33–3.33) and 11.0–12.4 μmol/L, respectively (Controls 0.068–0.114). GAMT deficiency in adults is associated with severe mental retardation and absence or limited speech development. Convulsions may be prominent. The nonspecific nature of the clinical findings as well as the limited availability of GAA assays and/or in vivo magnetic resonance spectroscopy of the brain may mean that many more patients remain undiagnosed in institutions for persons with mental handicaps. © 2005 Wiley‐Liss, Inc.
Recent developments in the radiation grafting of N‐vinyl‐2‐pyrrolidone onto low‐density polyethylene with cinnamonitrile derivatives
Authors: Elassar Abdel‐Zaher A. , El‐Sawy Naeem M. 
Published: January 2005

AbstractThe radiation‐induced graft polymerization of N‐vinyl‐2‐pyrrolidone onto low‐density polyethylene films was conducted with γ radiation by a simultaneous technique. The grafted copolymer was modified with cinnamonitrile or benzylidene malononitrile. The modified and grafted films were amidoximated with hydroxylamine hydrochloride in a basic medium. However, during amidoximation, the benzylidene malononitrile was cyclized to yield isoxazole ring through an addition to the nitrile group in its structure, whereas the nitrile groups of cinnamonitrile were converted into amidoxime groups. The swelling behavior of the grafted copolymers and copolymers grafted and modified either with cinnamonitrile or benzylidene malononitrile was studied. Amidoximated and grafted films and copolymer–metal complexes of Cu(II) were prepared and characterized. The effect of the isoxazole ring on polymeric materials was also investigated. These films were characterized with different analysis techniques, such as infrared, ultraviolet (UV), elemental analysis, energy‐dispersive spectroscopy, and electron spin resonance (ESR). The UV and ESR analyses revealed that the geometric structure of Cu(II) was square‐planar. Scanning electron microscopy was used to examine the grafted and modified films to determine the changes in the surface morphology. Morphological changes clearly appeared for both complexed and isoxazole films because of the increase in their crystallinity. The thermal stability of different films was investigated with thermogravimetric analysis. The improvement of the copolymer by modification with cinnamonitrile derivatives showed great promise for some practical applications, such as metal recovery by complexation or the use of isoxazole in medicine. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 95: 1189–1197, 2005
The performances of BMI nanocomposites filled with nanometer SiC
Authors: Yan Hongxia , Ning Rongchang , Liang Guozheng , Ma Xiaoyan 
Published: January 2005

AbstractNanocomposites of bismaleimide (BMI) with different proportions of nanometer SiC were prepared by a high shear dispersion process and casting method at elevated temperature. The mechanical and tribological properties of the nanocomposites were investigated. The bending strength and impact strength of the nanocomposite specimens were determined, and the sliding wear performance of the nanocomposites was investigated on an M‐200 friction and wear tester. The dispersion of nanometre SiC was observed with a transmission electron microscope (TEM), while those of the worn surfaces and transfer films on the counterpart steel ring were observed with a scanning electron microscope (SEM). The experimental results indicate that the nanocomposites exhibited lower friction coefficient and wear loss as well as higher bending and impact strength than BMI resin under the same testing conditions. The lowest wear rate was obtained with the nanocomposite containing 6.0 wt % SiC, while the highest mechanical properties were obtained with the nanocomposite containing 2.0 wt % SiC. The wear mechanism of the nanocomposite is mainly adhesion wear, while that of pure BMI resin is mainly fatigue cracking with plastic deformation. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 95: 1246–1250, 2005
Rigid nonproteinogenic cyclic amino acids as ligands for glutamate receptors: trans‐Tris(homoglutamic) acids
Authors: Meyer Udo , Bisel Philippe , Bräuner‐Osborne Hans , Madsen Ulf , Höfner Georg , Wanner Klaus Th. , Frahm August Wilhelm 
Published: January 2005

AbstractThe second‐generation asymmetric synthesis of the trans‐tris(homoglutamic) acids reported herein proceeds via Strecker reaction of chiral ketimines, obtained from condensation of racemic 2‐ethoxycarbonylmethylcyclopentanone and commercially available (S)‐ and (R)‐1‐phenylethylamine, respectively. In the key stereodifferentiating step, the cyanide addition leads to mixtures of diastereomeric α‐amino nitrile‐esters, the composition of which is independent of the reaction temperature and the type of the solvent, respectively. Hydrolysis of the α‐amino nitrile‐esters with concentrated H2SO4 yielded diastereomeric mixtures of secondary α‐amino amido‐esters, which after separation were hydrogenolyzed and hydrolyzed each to the enantiomeric trans‐1‐amino‐2‐carboxymethylcyclopentanecarboxylic acids. Their configuration was completely established by NMR methods, CD spectra, and X‐ray analysis of the trans‐1S,2R‐configured secondary α‐amino amido‐ester. In receptor binding assays and functional tests, trans‐1S,2R‐1‐amino‐2‐carboxymethylcyclopentanecarboxylic acid hydrochloride was found to behave as a selective mGluR2‐antagonist without relevant binding properties at iGluRs. Chirality 17:99–107, 2005. © 2005 Wiley‐Liss, Inc.
Skin‐sparing mastectomy and immediate reconstruction is an acceptable treatment option for patients with high‐risk breast carcinoma
Authors: Downes Kevin J. , Glatt Brian S. , Kanchwala Suhail K. , Mick Rosemarie , Fraker Douglas L. , Fox Kevin R. , Solin Lawrence J. , Bucky Louis P. , Czerniecki Brian J. 
Published: January 2005

AbstractBACKGROUNDSkin‐sparing mastectomy (SSM) followed by immediate reconstruction is an effective treatment option for patients with early‐stage breast carcinoma, but its use in patients with more advanced disease is controversial.METHODSA retrospective review was performed that included 38 consecutive patients with high‐risk breast carcinoma who underwent SSM and immediate reconstruction (between July 1996 and January 2002). Tumor characteristics, type of reconstruction, margin status, timing of adjuvant therapy, postoperative complications, and incidence of recurrence were evaluated.RESULTSHigh‐risk patients (Stage IIA [n = 4 patients] Stage IIB [n = 23 patients] Stage IIIA [n = 8 patients] and Stage IIIB [n = 3 patients]) underwent immediate reconstruction after SSM with the use of a transverse rectus abdominis myocutaneous flap (n = 31 patients), a latissimus dorsi myocutaneous flap plus an implant (n = 3 patients), or tissue expanders with subsequent implant placement (n = 4 patients). The median follow‐up was 52.9 months (range, 27.5–92.0 months), and the median time to recurrence has not yet been reached at the time of last follow‐up. The median interval from surgery to the initiation of postoperative adjuvant therapy was 38 days (range, 25–238 days). Local recurrence was seen in 1 patient (2.6%), systemic recurrence in was seen in 10 patients (26.3%), and both local and distant metastases in were seen in 2 other patients (5.3%).CONCLUSIONSSSM with immediate reconstruction appeared to be an oncologically safe treatment option for high‐risk patients with advanced stages of breast carcinoma. In addition to the aesthetic and psychological benefits of performing SSM with immediate reconstruction, local recurrence rates and disease‐free survival were favorable when combined with the use of radiation therapy and adjuvant chemotherapy, as indicated. Cancer 2005. © 2005 American Cancer Society.
Survival in prostate carcinoma—Outcomes from a prospective, population‐based cohort of 8887 men with up to 15 years of follow‐up
Authors: Aus Gunnar , Robinson David , Rosell Johan , Sandblom Gabriel , Varenhorst Eberhard 
Published: January 2005

AbstractBACKGROUNDTo decide on screening strategies and curative treatments for prostate carcinoma, it is necessary to determine the incidence and survival in a population that is not screened.METHODSThe 15‐year projected survival data were analyzed from a prospective, complete, population‐based registry of 8887 patients with newly diagnosed prostate carcinoma from 1987 to 1999.RESULTSThe median patient age at diagnosis was 75 years (range, 40–96 years), and 12% of patients were diagnosed before the age 65 years. The median follow‐up was 80 months for patients who remained alive. In total, 5873 of 8887 patients (66.1%) had died, and 2595 of those patients (44.2%) died directly due to prostate carcinoma. The overall median age at death was 80 years (range, 41–100 years). The projected 15‐year disease‐specific survival rate was 44% for the whole population. In total, 18% of patients had metastases at diagnosis (M1), and their median survival was 2.5 years. Patients with nonmetastatic T1–T3 prostate carcinoma (age < 75 years at diagnosis; n = 2098 patients) had a 15‐year projected disease‐specific survival rate of 66%. Patients who underwent radical prostatectomy had a significantly lower risk of dying from prostate carcinoma (relative risk, 0.40) compared with patients who were treated with noncurative therapies or radiotherapy.CONCLUSIONSThe disease‐specific mortality was comparatively high, but it took 15 years to reach a disease‐specific mortality rate of 56%. These data form a truly population‐based baseline on how prostate carcinoma will affect a population when screening is not applied and can be used for comparison with other health care strategies. Cancer 2005. © 2005 American Cancer Society.
Incidence of noncutaneous melanomas in the U.S.
Authors: McLaughlin Colleen C. , Wu Xiao‐Cheng , Jemal Ahmedin , Martin Howard J. , Roche Lisa M. , Chen Vivien W. 
Published: January 2005

AbstractBACKGROUNDDescription of the epidemiology of noncutaneous melanoma has been hampered by its rarity. The current report was the largest in‐depth descriptive analysis of incidence of noncutaneous melanoma in the United States, using data from the North American Association of Central Cancer Registries.METHODSPooled data from 27 states and one metropolitan area were used to examine the incidence of noncutaneous melanoma by anatomic subsite, gender, age, race, and geography (northern/southern and coastal/noncoastal) for cases diagnosed between 1996 and 2000. Percent distribution by stage of disease at diagnosis and histology were also examined.RESULTSBetween 1996 and 2000, 6691 cases of noncutaneous melanoma (4885 ocular and 1806 mucosal) were diagnosed among 851 million person‐years at risk. Ocular melanoma was more common among men compared with women (6.8 cases per million men compared with 5.3 cases per million women, age‐adjusted to the 2000 U.S. population standard), whereas mucosal melanoma was more common among women (2.8 cases per million women compared with 1.5 cases per million men). Rates of ocular melanoma among whites were greater than eight times higher than among blacks. Rates of mucosal melanoma were approximately two times higher among whites compared with blacks.CONCLUSIONSIn contrast to cutaneous melanoma, there was no apparent pattern of increased noncutaneous melanoma among residents of southern or coastal states, with the exception of melanoma of the ciliary body and iris. Despite their shared cellular origins, both ocular and mucosal melanomas differ from cutaneous melanoma in terms of incidence by gender, race, and geographic area. Cancer 2005. © 2005 American Cancer Society.
A low‐loss snubber for reducing motor terminal surge voltage
Authors: Kon Hironobu 
Published: January 2005

AbstractThe development of an advanced Insulated Gate Bipolar Transistor (IGBT) has enabled high‐frequency switching operation and has improved the performance of PWM inverters for motor drive. However, the IGBT's high rate ofdv/dthas adverse effects on motor insulation stress. In many motor drive applications, the inverter and motor are separated, requiring long motor feeds. The long cable contributes high‐frequency ringing at the motor terminal and results in high surge voltage which stresses the motor insulation. The inverter output filter and RDC snubber are the conventional method for reducing the surge voltage.In this paper, we propose a new low‐loss snubber to reduce the motor terminal surge voltage. The snubber consists of the series connection of chraging/discharging capacitor and the voltage‐clamped capacitor. At IGBT turn‐off, the snubber starts to operate when the IGBT voltage reaches the voltage‐clamped level. Sincedv/dtis decreased by snubber operating, the peak level of the surge voltage can be reduced. Also the snubber operates at the IGBT voltage above the voltage‐clamped level, and the snubber loss is largely reduced compared with the RDC snubber. The proposed snubber enables reduction of the motor terminal surge voltage with low loss. © 2005 Wiley Periodicals, Inc. Electr Eng Jpn, 150(4): 64–72, 2005; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/eej.10378
Analysis of biological motors via multidimensional fractionation: A strategy
Authors: Serwer Philip 
Published: January 2005

AbstractPast strategies for the analysis of ATP‐fueled motors include single‐motor analysis. Single‐motor analysis bypasses limitations caused by motor asynchrony during the traditional ensemble averaging analysis. The present communication describes revised ensemble averaging analysis that also can bypass asynchrony‐derived limitations. This revised analysis makes measurements of one motor variable dependent on the others. One example is nondenaturing gel electrophoresis with more than one dimension. Each dimension measures one of the motor variables. This multidimensional procedure is used to obtain the values of “conformational” motor variables as a function of a “clock” motor variable. In theory, the cycle of the motor can be analyzed from a single multidimensional analysis of a collection of asynchronous motors sampled at only one time. That is to say, motor asynchrony becomes an asset, rather than a liability.