bluuebunny/crossref_metadata_2025_split huggingface dataset:
Increased rate of major birth malformations in infants with neonatal “asymmetric crying face”: A hospital‐based cohort study
Authors: Dubnov‐Raz Gal , Merlob Paul , Geva‐Dayan Karen , Blumenthal Danith , Finkelstein Yaron 
Published: January 2007

AbstractAsymmetric crying face (ACF) is a minor anomaly found in 3–8 per 1,000 births, which may be associated with other anomalies. Previous studies on this topic included small groups of selected subjects, resulting in large variations in findings. The aim of this study was to examine the characteristics and associated anomalies of newborn infants with ACF compared with the general population of newborn infants. The study included newborn infants delivered between 1993 and 2003 at the Department of Neonatology of Rabin Medical Center, Israel. Charts of all newborns diagnosed with ACF were reviewed for obstetric and neonatal details, then compared with non‐ACF newborns. ACF was diagnosed in 258 of 67,289 newborns (0.38%), with left‐side predominance (77%). Major malformations were found in 7% of ACF infants, 3.5‐fold higher than in the total Israeli population. Mild anomalies were present in 15% of the ACF group, and deformations in 4.6%. There was a higher rate of forceps deliveries in the ACF group (RR = 2.73, 95% CI = 1.37–5.42). ACF was more prevalent among females, and the male:female ratio was lower in the ACF group (0.86 vs. 1.06, P = 0.05). The rate of low‐birth‐weight infants was 3.9% among ACF infants and 9.6% in the control group (RR = 0.41, 95% CI = 0.23–0.76). No significant between‐group difference was found for rates of primiparity, macrosomia, prematurity, postmaturity, or size‐for‐gestational‐age. Thus, ACF is associated with a high rate of major malformations. This should prompt clinicians to seek for additional birth defects in ACF infants. © 2007 Wiley‐Liss, Inc.
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS
Authors: Santos Heloísa G. , Almeida Maria , Fernandes Helena , Wilkie Andrew 
Published: January 2007

AbstractIn classical achondroplasia (Ach), a glycine residue is replaced by an arginine at codon 380 in exon 10 of the fibroblast growth factor receptor 3 gene (FGFR3). Here we report on a mother and daughter with hypochondroplasia (Hch) caused by a new heterozygous double mutation (1138_1139GG > AA) at the same codon 380, but encoding a lysine instead of the usual arginine. Previous functional assays of these codon 380 amino acid substitutions demonstrated a lesser activation of receptor signaling by lysine compared to arginine [Webster and Donoghue, 1996; EMBO J 15:520–527]. This could explain the milder phenotype observed in our patients. Several other rare double mutations were previously described in both FGFR2 and FGFR3 and interpreted as resulting from positive selection of spermatogonial cells owing to gain‐of‐function in the encoded protein [Goriely et al., 2005; Proc Natl Acad Sci USA 102:6051–6056]. The present case contributes additional support for this hypothesis. © 2007 Wiley‐Liss, Inc.
Skin changes in oculo‐dento‐digital dysplasia are correlated with C‐terminal truncations of connexin 43
Authors: Vreeburg M. , de Zwart‐Storm E.A. , Schouten M.I. , Nellen R.G.L. , Marcus‐Soekarman D. , Devies M. , van Geel M. , van Steensel M.A.M. 
Published: January 2007

AbstractOculo‐dento‐digital dysplasia (ODDD, OMIM no.164210) is a pleiotropic disorder caused by mutations in the GJA1 gene that codes for the gap junction protein connexin 43. While the gene is highly expressed in skin, ODDD is usually not associated with skin symptoms. We recently described a family with ODDD and palmoplantar keratoderma. Interestingly, mutation carriers had a novel dinucleotide deletion in the GJA1 gene that resulted in truncation of part of the C‐terminus. We speculated, that truncation of the C‐terminus may be uniquely associated with skin disease in ODDD. Here, we describe a patient with ODDD and palmar hyperkeratosis caused by a novel dinucleotide deletion that truncates most of the connexin 43 C‐terminus. Thus, our findings support the notion that such mutations are associated with the occurrence of skin symptoms in ODDD and provide the first evidence for the existence of a genotype–phenotype correlation. © 2007 Wiley‐Liss, Inc.
Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome
Authors: Wühl Elke , Kogan Jillene , Zurowska Aleksandra , Matejas Verena , Vandevoorde Rene G. , Aigner Thomas , Wendler Olaf , Lesniewska Iga , Bouvier Raymonde , Reis André , Weis Joachim , Cochat Pierre , Zenker Martin 
Published: January 2007

AbstractPierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct eye abnormalities with microcoria reported as the most prominent clinical feature. LAMB2 mutations leading to lack of laminin β2 were identified as the molecular cause underlying Pierson syndrome. Although LAMB2 is known to be expressed in the neuromuscular system, and defects of the neuromuscular junctions had been found in laminin β2‐deficient mice, no consistent neurological phenotype has been described clinically in murine or human laminin β2‐deficiency before. This is likely due to the early lethality from renal failure. Here we provide a detailed description of neurological manifestations and development in four patients affected by Pierson syndrome, who survived until the age of 1.3–4.8 years owing to renal replacement therapy. Severe muscular hypotonia, psychomotor retardation, and blindness were present in three patients harboring truncating mutations on both LAMB2 alleles. These symptoms were not attributable to complications of chronic renal failure, thus representing a primary feature of the genetic disorder. Alterations in skeletal muscle tissue from one case were compatible with a chronic denervating process. One affected girl, however, exhibited a milder course of renal disease, normal development, and preserved vision, presumably owing to some residual LAMB2 function. Our findings indicate that severe neurodevelopmental deficits have to be considered as part of Pierson syndrome, at least in the presence of biallelic functional null mutations (complete lack of laminin β2). This is an important issue in the counseling of parents of an affected newborn or infant. © 2007 Wiley‐Liss, Inc.
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes
Authors: Van Esch Hilde , Jansen Anna , Bauters Marijke , Froyen Guy , Fryns Jean‐Pierre 
Published: January 2007

AbstractWe describe a male patient with a deletion at Xp22, detected by high resolution X‐array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance‐Horan syndrome and the cyclin‐dependent kinase‐like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. This is the first description of a male patient with a deletion of these genes, showing the involvement of CDKL5 in severe epileptic encephalopathy in males. Moreover it illustrates the added value of high resolution array‐CGH in molecular diagnosis of mental retardation‐multiple congenital anomaly cases. © 2007 Wiley‐Liss, Inc.
Two cases further delineating the Sakoda complex
Authors: Dempsey Melissa A. , Torres‐Martinez Wilfredo , Walsh Laurence E. 
Published: January 2007

AbstractSakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy. The etiology remains unknown. We describe two patients with anomalies consistent with the Sakoda complex including the cardinal features of sphenoethmoidal encephalomeningocele and cleft palate. The first patient also has right microphthalmia, optic nerve hypoplasia, diffuse pachygyria, asymmetric ventricles, atrial septal defect, hemivertebrae, and renal abnormalities. The second patient has right microphthalmia, absence of the right hemisphere, and a right bifid thumb. The features of Sakoda complex present in these patients may also overlap with frontonasal dysplasia and morning glory syndrome suggesting shared pathogenic relationships. We propose that the primary malformation of the Sakoda complex is probably genetic. The right hemispheric defect in Patient 2 suggests that at least some cases of Sakoda complex may also be associated with vascular disruption. Thus, more than one pathogenetic process contributes to the phenotypic spectrum of Sakoda complex. © 2007 Wiley‐Liss, Inc.
Duplication 18q21.31‐q22.2
Authors: Ceccarini Caterina , Sinibaldi Lorenzo , Bernardini Laura , De Simone Roberto , Mingarelli Rita , Novelli Antonio , Dallapiccola Bruno 
Published: January 2007

AbstractWe report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype–phenotype correlation. © 2007 Wiley‐Liss, Inc.
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
Authors: Mazzeu Juliana Forte , Pardono Eliete , Vianna‐Morgante Angela M. , Richieri‐Costa Antônio , Ae Kim Chong , Brunoni Décio , Martelli Lúcia , de Andrade Carlos Eugênio F. , Colin Guilherme , Otto Paulo A. 
Published: January 2007

AbstractRobinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or other similar conditions. The frequencies of clinical signs considered important for the discrimination of the dominant or recessive variants were estimated in a sample consisting of 38 patients personally examined by the authors and of 50 affected subjects from the literature. Using the presence of rib fusions as diagnostic of the recessive variant, and also based on the inheritance pattern in familial cases, we classified 37 patients as having the recessive form and other 51 as having the dominant form. The clinical signs present in more than 75% of patients with either form, and therefore the most important for the characterization of this syndrome were hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Hemivertebrae and scoliosis were present in more than 75% of patients with the recessive form, but in less than 25% of patients with the dominant form. Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form. © 2007 Wiley‐Liss, Inc.
Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy
Authors: Kim Woojin , Pyeritz Reed E. , Bernhardt Barbara A. , Casey Michael , Litt Harold I. 
Published: January 2007

AbstractFabry disease affects multiple organs, including the lungs. To date, there have been no reports of the effect of enzyme replacement therapy on patients with pulmonary manifestations of the disease. We report on a case of marked improvement of pulmonary signs and symptoms in a patient with Fabry disease following enzyme replacement therapy. A 38‐year‐old female with Fabry disease presented with dyspnea requiring constant supplemental oxygen. Following bi‐weekly treatment with agalsidase beta, she demonstrated marked improvement in her pulmonary symptoms, eventually no longer needing supplemental oxygen and returning to an active lifestyle. Improvement was seen on pulmonary function tests and chest CT examinations. Enzyme replacement therapy may alleviate pulmonary dysfunction in patients with Fabry disease. © 2007 Wiley‐Liss, Inc.
IVIC syndrome Is caused by a c.2607delA mutation in the SALL4 locus
Authors: Paradisi Irene , Arias Sergio 
Published: January 2007

AbstractThe IVIC syndrome described in 1980 in a large Venezuelan family, is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non‐progressive mixed hearing loss; other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. Since 2002, mutations in the SALL4 locus have been reported producing phenotypic features quite similar to those in IVIC syndrome; this gene was thus proposed as a candidate for the condition. A segregation analysis of four SNPs in exon 2 (c.1520T > G, c.1860A > G, c.2037C > T, and c.2392A > C) was carried out in 14 affected and in 15 normal family members. Haplotype T;A;C;A was found to always segregate with the disease. Sequencing the whole coding regions revealed one heterozygous base deletion in exon 3 (c.2607delA) causing a premature stop signal 44 codons downstream (p.Q869fsX44) which segregates with the phenotype, being absent in controls. The large number of affected individuals presumably carrying the same mutation (n = 26) with quite different degrees of involvement allowed a discussion about possible mechanisms for the SALL4 action. The finding of a SALL4 mutation in a family with such a wide pleiotropic spectrum proves that at least Okihiro, acro‐renal‐ocular and IVIC syndromes are allelic entities. © 2007 Wiley‐Liss, Inc.
Costal process of the first sacral vertebra: Sexual dimorphism and obstetrical adaptation
Authors: Tague Robert G. 
Published: January 2007

AbstractThe human sacrum is sexually dimorphic, with males being larger than females in most dimensions. Previous studies, though, suggest that females may have a longer costal process of the first sacral vertebra (S1) than males. However, these studies neither quantified nor tested statistically the costal process of S1. This study compares S1 with the five lumbar vertebrae (L1 to L5) for a number of metric dimensions, including costal process length. Four issues are addressed, the: 1) hypothesis that females have a longer costal process of S1 than males; 2)hypothesis that homologous structures (i.e., costal processes of L1 to S1) differ in their direction of sexual dimorphism; 3) importance of the costal process of S1 to the obstetrical capacity of the pelvis; and 4) evolution of sexual dimorphism in costal process length of S1. One hundred ninety‐seven individuals, including males and females of American blacks and whites, from the Hamann–Todd and Terry Collections were studied. Results show that males are significantly larger than females for most vertebral measurements, except that females have a significantly longer costal process of S1 than males. Costal process length of S1 is positively correlated with the transverse diameter and circumference of the pelvic inlet. The magnitude of sexual dimorphism in costal process length of S1 ranks this measure among the most highly dimorphic of the pelvis. Compared with the humans in this study, australopithecines have a relatively long costal process of S1, but their broad sacrum was not associated with obstetrical imperatives. Am J Phys Anthropol, 2007. © 2006 Wiley‐Liss, Inc.
Effect of the drawing process on the wet spinning of polyacrylonitrile fibers in a system of dimethyl sulfoxide and water
Authors: Wang Yan‐Xiang , Wang Cheng‐Guo , Bai Yu‐Jun , Bo Zhu 
Published: January 2007

AbstractThe effect of the drawing process on the structural characteristics and mechanical properties of polyacrylonitrile (PAN) fibers was comparatively studied. The protofibers extruded from the spinneret were the initial phase of stretching, which involved the deformation of the primitive fiber with the concurrent orientation of the fibrils. Wet‐spun PAN fibers observed by scanning electron microscopy exhibited different cross‐sectional shapes as the draw ratio was varied. X‐ray diffraction results revealed that the crystalline orientation of PAN fibers increased with increasing draw ratio; these differences in the orientation behaviors were attributed to the various drawing mechanisms involved. The crystalline and amorphous orientations of the PAN fibers showed different features; at the same time, the tensile properties were strongly dependent on the draw ratio. However, the stream stretch ratio had most influence on the tensile strength and the orientation of PAN fibers for the selected process parameters. Electron spin resonance proved that the local morphology and segmental dynamics of the protofibers were due to a more heterogeneous environment caused by the sequence structure. Differential scanning calorimetry indicated that the size and shape of the exotherm and exoenergic reaction were strongly dependent on the morphology and physical changes occurring during fiber formation. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 104: 1026–1037, 2007
Preparation and properties of a novel polytriazole resin
Authors: Wan Liqiang , Luo Yonghong , Xue Lian , Tian Jianjun , Hu Yanhong , Qi Huimin , Shen Xuening , Huang Farong , Du Lei , Chen Xiangbao 
Published: January 2007

AbstractA novel polytriazole resin prepared from p‐xylylene diazide (XDA) and N,N,N′,N′‐tetrapropargyl‐p,p′‐diaminodiphenylmethane (TPDDM) was synthesized and characterized. The resin is soluble in common solvents like acetone. The results show that the polytriazole resin can be cured at 70°C. The glass transition temperature and thermal decomposition temperature of the cured resin are 218 and 350°C, respectively. The tensile and flexural strengths of the cured resin achieve 99.0 and 200 MPa, respectively. It is potential as a low cost and easy processing thermal resistant polymer matrix for advanced composite applications. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 104: 1038–1042, 2007
Use of isoconversional methods to analyze the cure kinetics of isocyanate‐ended quasi‐prepolymers with water
Authors: Daniel‐da‐Silva Ana L. , Moura Bordado João C. , Martín‐Martínez José M. 
Published: January 2007

AbstractThe curing of an isocyanate (NCO)‐ended quasi‐prepolymer by reaction with water in stoichiometric ratio was monitored by using differential scanning calorimetry both under isothermal and non‐isothermal conditions. A quasi‐prepolymer containing 16 wt % free NCO prepared by reacting trifunctional polypropylene glycol (PPG) with polymeric MDI was used in this study. The variation of the effective activation energy with the extent of the curing reaction was calculated by means of model‐free differential and integral isoconversional methods. Both isoconversional methods provided similar results showingthat the activation energy depends on the extent of thereaction of the quasi‐prepolymer with water. The dependence of the effective activation energy proved to be different under isothermal and non‐isothermal curing conditions. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 104: 1049–1057, 2007
Use of polymeric nitrosation reagents for the N‐nitrosation of secondary amines under mild and heterogeneous conditions
Authors: Zarchi M. A. Karimi , Noei J. 
Published: January 2007

AbstractA combination of crosslinked poly(4‐vinylpyridinium)chloride [P4‐H]Cl (I) and sodium nitrite or quaternized crosslinked poly(N‐methyl‐4‐vinylpyridinium)nitrite [P4‐Me]NO2 (II) was used as effective nitrosating agents for the N‐nitrosation of secondary amines under mild and heterogeneous conditions in moderate to excellent yields. The spent polymeric reagents can usually be removed quantitatively and regenerated. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 104: 1064–1067, 2007
Synthesis and properties of organosoluble polynaphthalimides bearing ether linkages and phthalide cardo groups
Authors: Yang Chin‐Ping , Chen Ya‐Yin , Hsiao Sheng‐Huei 
Published: January 2007

AbstractA series of organic‐soluble polynaphthalimides (PNI) bearing flexible ether links and phthalide cardo group were synthesized from 1,4,5,8‐naphthalenetetracarboxylic dianhydride (NTDA) with 3,3‐bis[4‐(4‐aminophenoxy)‐3‐methylphenyl]phthalide (BAMP) and its equimolar mixtures with other dietheramines by high‐temperature solution polycondensation in m‐cresol. The PNIs had moderate to high inherent viscosities in the range of 1.24–2.25 dL/g and could afford flexible and tough films with tensile strengths of 97–138 MPa by casting their m‐cresol solutions. These PNIs exhibited high thermal stability, with glass transition temperature of 291°C–321°C, 10% weight‐loss temperatures above 542°C, and char yields at 800°C in nitrogen higher than 56%. In comparison with PNIs without the BAMP component, these BAMP‐modified PNIs revealed an enhanced solubility and film‐forming capability. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 104: 1104–1109, 2007
DMTA based investigation of hygrothermal ageing of an epoxy system used in rehabilitation
Authors: Xian Guijun , Karbhari Vistasp M. 
Published: January 2007

AbstractDynamic mechanical thermal analysis (DMTA) techniques were used to investigate the moisture uptake and ageing of an ambient temperature cured epoxy used in the external strengthening of deteriorating concrete structures. Since the process is conducted under field conditions, cure does not progress completely prior to exposure to environmental conditions. Resin samples are immersed in deionized water at 23, 40, and 60°C, as well as in 5% NaCl and concrete based alkali solution at 23°C for periods up to 24 months. Diffusion coefficients increase with increase in temperature of immersion, but the maximum/equilibrium moisture content over the period of time is seen to be largely independent of temperature of immersion and type of solution. Glass transition temperature was found to decrease with increasing moisture uptake, with competing effects of cure progression and plasticization in the early periods of exposure, followed by hydrolysis and irreversible deterioration over longer periods of time. Splitting of the Tg of samples aged in deionized water and alkali solution indicate the formation of biphasic structures and drying of the network structure during DMTA. A biphasic structure indicating differently plasticized phases in the skin regions, which is different from the response in the bulk, is seen in samples immersed in salt solution. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 104: 1084–1094, 2007