bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hyperechogenic fetal bowel: A large French collaborative study of 682 cases
Authors: Simon‐Bouy B. , Satre V. , Ferec C. , Malinge M.C. , Girodon E. , Denamur E. , Leporrier N. , Lewin P. , Forestier F. , Muller F. ,   and the French Collaborative Group
Published: August 2003

AbstractHyperechogenic fetal bowel is detected in 0.1–1.8% of pregnancies during the second or third trimester. This ultrasound sign is associated with cystic fibrosis or other conditions (e.g., chromosomal anomalies, viral infection) but no large‐scale prospective studies have been conducted. This 1997–1998 multicenter study in 22 molecular biology laboratories identified 682 cases of hyperechogenic fetal bowel detected by routine ultrasound examination during the second (86%) or third trimester. The fetal bowel was considered hyperechogenic when its echogenicity was broadly similar to, or greater than, that of the surrounding bone. Karyotyping, screening for viral infection, and screening for cystic fibrosis mutations were performed in all cases. Pregnancy outcome and postnatal follow‐up were obtained in 656 of the 682 cases (91%). In 447 cases (65.5%), a normal birth was observed. Multiple malformations were observed in 47 cases (6.9%), a significant chromosomal anomaly was noted in 24 (3.5%), cystic fibrosis in 20 (3%), and viral infection in 19 (2.8%). In utero unexplained fetal death occurred in 1.9% of cases, toxemia in 1.2%, IUGR in 4.1%, and premature birth in 6.2%. This study demonstrates that this ultrasound sign is potentially associated with medically significant outcomes. Having established that the bowel is hyperechogenic, recommended investigations should include a detailed scan with Doppler measurements, fetal karyotyping, cystic fibrosis screening, and infectious disease screening. After birth, newborns require pediatric examination because a surgical treatment may be necessary. This should be combined with clear counseling of the parents. © 2003 Wiley‐Liss, Inc.
Partial hexasomy of chromosome 15
Authors: Huang Bing , Bartley James 
Published: August 2003

AbstractMarker chromosomes originating from chromosome 15, often referred to as inv dup(15), is the most common marker chromosome found in humans. The large marker 15 that contains the Prader‐Willi syndrome (PWS)/Angelman syndrome (AS) chromosome region is usually associated with an abnormal phenotype of moderate to severe mental retardation, seizures, poor motor coordination, behavioral problems, and mild dysmorphic features. We report here an infant boy with two copies of the large inv dup(15). A 10‐day‐old infant was found to have infantile spasms, microcephaly, hypotonia, and lethargy. Lymphocyte chromosome analysis revealed a 48,XY, +2mar karyotype. Fluorescence in situ hybridization with probes rRNA, D15Z4, D15S11, and GABRB3 demonstrated that both markers were chromosome 15 in origin and contained the Prader‐Willi/Angelman syndrome chromosome region. Therefore, this patient is hexasomic for the PWS/AS region. The phenotype of this patient does not appear to be significantly more severe than patients with one copy of the large inv dup(15) at birth, however, follow‐up evaluation of the patient at 21 months of age shows that this patient has frequent and severe seizure activity, severe bilateral hearing loss, and cortical blindness. © 2003 Wiley‐Liss, Inc.
Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients
Authors: Fidder Herma H. , Olschwang Sylviane , Avidan Benjamin , Zouali Habib , Lang Alon , Bardan Eytan , Picard Orit , Bar‐Meir Simon , Colombel Jean Frederic , Chowers Yehuda 
Published: August 2003

AbstractUlcerative colitis (UC) and Crohn's disease (CD) are heterogeneous disorders characterized by chronic intestinal inflammation. Genetic predisposition is a major risk factor in both diseases. The CARD15 (NOD2) gene has been implied as a candidate gene in the pathogenesis CD. Our aim was to delineate the frequency of three missense and one frameshift variant of CARD15 in Israeli Jewish CD and UC patients. DNA was extracted from blood samples from 238 unrelated inflammatory bowel disease (IBD) patients, 68 with UC and 170 with CD. The DNA was genotyped for two missense mutations, R675W and G881R, and one frameshift mutation, 980FS981X. Mutations in CARD15 were observed with significantly greater frequency in CD patients (46/170, 27%) than in UC patients (7/68, 10%) (P = 0.005). Homozygous and compound heterozygous carriers were restricted to seven (4%) patients with CD as compared to none of the UC patients (P = 0.01). Similar rates in Ashkenazi and non‐Ashkenazi Jewish patients were observed. Age‐of‐onset of disease was lower in Ashkenazi mutation carriers as compared to non‐carriers of Ashkenazi origin (18.7 ± 8.6 years vs. 25.8 ± 13.4 years, respectively, P = 0.03). No other phenotypic characteristics could distinguish mutation carriers from non‐carriers. We conclude that germline mutations in the CARD15 gene are more frequently found in CD than UC patients and appear to predict an earlier age‐of‐onset in Ashkenazi Jewish patients. No association could be demonstrated between CARD15 mutations and specific disease course or behavior. © 2003 Wiley‐Liss, Inc.
Vasomotor instability in neonates with chromosome 22q11 deletion syndrome
Authors: Shashi Vandana , Berry Margaret N. , Hines Michael H. 
Published: August 2003

AbstractApproximately 70% of individuals with chromosome 22q11 deletion syndrome (22q11DS) have congenital heart defects. A host of other vascular problems in these patients, such as tortuous carotid arteries, Raynaud's phenomenon, unexplained hypotension, hypertension, and hypothermia, raise the possibility that there may be abnormal autonomic regulation of the vascular system. So far, however, there has been no formal report of autonomic dysfunction in patients with 22q11 deletion. We present two infants with 22q11DS, who had profound hypotension after uncomplicated surgeries for congenital heart disease. The hypotension was not responsive to vasopressor treatment (and extracorporeal membrane oxygenation in one infant) and resulted in death, due to multiorgan system failure. Obvious causes, such as poor cardiac contractility, prolonged circulatory arrest, neurological abnormality, sepsis and blood loss were excluded. On autopsy, no abnormalities were found that could explain the hypotension. We hypothesize that these infants died of severe hypotension due to abnormal vascular tone and that this is a variable feature in individuals with 22q11 deletion. The autonomic nervous system, which is responsible for the regulation of vasomotor tone, may be variably affected in 22q11DS. This could have implications for the surgical management of patients with 22q11DS. Further studies on this topic would establish or refute the association between 22q11DS and dysautonomia.© 2003 Wiley‐Liss, Inc.
Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?
Authors: Lopes Vera Lúcia Gil da Silva , Guion‐Almeida Maria Leine , Rodini Elaine Sbroggio de Oliveira 
Published: August 2003

AbstractWe describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley‐Liss, Inc.
Novel deletion in the pre‐mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family
Authors: Wang Lejin , Ribaudo Michael , Zhao Kanxing , Yu Ning , Chen Qiuyun , Sun Qiuxiang , Wang Liming , Wang Qing 
Published: August 2003

AbstractWe report the identification of a novel 12 bp deletion of the pre‐mRNA splicing gene PRPF31 in a large Chinese family with autosomal dominant retinitis pigmentosa (adRP). This mutation results in the deletion of four amino acids (ΔH111K112F113I114) including H111, an amino acid residue that is highly conserved throughout evolution. The 12 bp deletion co‐segregates with the disease phenotype in 19 RP patients in the family, but is not present in unaffected relatives or 100 normal individuals. Our data indicate that the novel 12 bp deletion in PRPF31 causes retinitis pigementosa in this Chinese adRP family. In contrast to the incomplete penetrance observed in most adRP families linked to chromosome band 19q13.4 (RP11), the 12 bp PRPF31 deletion identified in this study appears to show high penetrance. These data expand the spectrum of PRPF31 mutations causing adRP, and confirm the role of PRPF31 in the pathogenesis of RP. © 2003 Wiley‐Liss, Inc.
Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome
Authors: Bosco Paolo , Guéant‐Rodriguez Rosa‐Maria , Anello Guido , Barone Concetta , Namour Farès , Caraci Filippo , Romano Antonino , Romano Corrado , Guéant Jean‐Louis 
Published: August 2003

AbstractContradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C→T) and methionine synthase reductase (MTRR 66 A→G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A→G) and of MTHFR 1298 A→C has never been evaluated. In this study, the risk of being a DS case or having a DS child (case mother) was studied by multiple logistic regression analysis of the independent and combined genotypes and of plasma homocysteine, folates, and vitamin B12 in 92 DS cases and 140 control subjects as well as in 63 case mothers and 72 age‐matched control mothers from Sicily. (The MTHFR 677 T allele frequency was not different in DS cases and case mothers, compared to the respective control groups). After adjustment for age, total homocysteine (t‐Hcys) and MTR 2756 AG/GG genotype were significant risk factors for having a DS child, with odds ratio (OR) of 6.7 (95% CI: 1.4–32.0, P = 0.016) and of 3.5 (95% CI: 1.2–10.9, P = 0.028), respectively. By comparison, MTR 2756 AG/GG genotype increased significantly the risk of being a DS case, with an OR of 3.8 (95% CI: 1.4–10.5, P = 0.009). The double heterozygosity MTR 2756 AG/MTRR 66 AG was the single combined genotype that was a significant risk factor for having a DS child, with an OR estimated at 5.0 (95% CI: 1.1–24.1), after adjustment for t‐Hcys. In conclusion, our results provide evidences that homocysteine and MTR genetic polymorphism are two potent risk factors for mothers to have a DS child in Sicily. © 2003 Wiley‐Liss, Inc.
Familial optic atrophy with white matter changes
Authors: Vinkler Chana , Lev Dorit , Kalish Hadas , Watemberg Nathan , Yanoov‐Sharav Miri , Leshinsky‐Silver Esther , Lerman‐Sagie Tally 
Published: August 2003

AbstractWe report two brothers who suffer from infantile onset optic atrophy and blindness. MRI of the brain demonstrated periventricular white matter changes in both children. Neurological and develelopmental examination are normal. Extensive laboratory investigations rule out metabolic disorders that can be associated with optic atrophy. No mutations associated with Leber hereditary optic neuropathy (LHON) were found and sequencing of the mitochondrially encoded complex 1 subunits was normal. We suggest that this family represents either an atypical variant of LHON with a yet undescribed mtDNA mutation or a new syndrome. © 2003 Wiley‐Liss, Inc.
Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome?
Authors: Rajab A. , Khaburi M. , Spranger S. , Kunze J. , Spranger J. 
Published: August 2003

AbstractWe present three patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense metaphyseal striations occurring in adolescence. Abnormalities of lipid and carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, and hirsutism were not found. Comparison of the condition of these patients with known syndromic lipodystrophies suggests that they represent a previously unrecognized genetic disorder. The occurrence in sibs born to consanguineous parents and a third patient from the same tribal unit suggest autosomal recessive inheritance. © 2003 Wiley‐Liss, Inc.
Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North‐East Italy
Authors: Isabella Mammi , Teresa Basile Rosaria , Silvano Bellato , Serena Belli , Francesco Benedicenti , Stefania Boni , Claudio Castellan , Maurizio Clementi , Elena Di Gianantonio , Marilena Petrella , Licia Turolla , Romano Tenconi 
Published: August 2003

AbstractCongenital malformations (CM) affect 2–3% of all births, the cause of which, when known, is genetic in 80–90% of cases. A genetic consultation (GC) is indicated for the parents of a child affected by a CM. This study analyzes the parental utilization of genetic counseling (GCU) and its possible influencing factors after termination of pregnancy (TOP) because of fetal anomalies or after the birth of a child affected by a major malformation. The study concerns cases in North‐East Italy where there is a CM registry and a center‐satellite system for genetic counseling. The results of this analysis are also compared to other similar studies, which address the same topic. Between 1981 and 2000, 1,235 out of 14,888 GC were performed because of the presence of a CM in a child/fetus. In the same period, 4,933 births and 1,112 TOPs were registered. The overall GCU was 19%, with significant differences according to malformative phenotype, severity of the malformative condition, type of birth, and viability. Genetic counseling was performed significantly sooner following TOP than after the birth of a malformed child. GCU showed an unequal distribution according to the parents' place of residence, suggesting that easy and equal access to the genetic service was probably not well provided for. Our results suggest that genetic services should be integrated with related services, and that the public and physicians need a greater awareness of these services. © 2003 Wiley‐Liss, Inc.
Donnai‐Barrow syndrome: Four additional patients
Authors: Chassaing Nicolas , Lacombe Didier , Carles Dominique , Calvas Patrick , Saura Robert , Bieth Eric 
Published: August 2003

AbstractIn 1993, Donnai and Barrow reported a new syndrome in two sets of sibs and in an unrelated child, including diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness. Since then, only four similar patients have been documented. We describe four additional patients, including two sibling pairs from healthy parents. This report firmly establishes this syndrome as a distinct clinical entity and provides further evidence for its previously postulated autosomal recessive inheritance. © 2003 Wiley‐Liss, Inc.
Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: A new case and expansion of the phenotype
Authors: Williams Marc S. , Josephson Kevin D. 
Published: August 2003

AbstractAn adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance. We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardinal features are discussed and additional phenotypic manifestations are discussed. © 2003 Wiley‐Liss, Inc.
Wirt‐Gast‐Antennenmaterialien
Authors: Calzaferri Gion , Huber Stefan , Maas Huub , Minkowski Claudia 
Published: August 2003

AbstractWir stellen Wirt‐Gast‐Materialien vor, aufgebaut aus zylindrischen Zeolith‐L‐Kristallen, deren Kanäle mit Farbstoffmolekülen gefüllt sind. Die Synthese dieser Stoffe beruht auf der Eigenschaft der Moleküle, in einzelne Kanäle zu diffundieren. Der umgekehrte Prozess, das Herausdiffundieren der Farbstoffe, kann mithilfe eines molekularen “Korkens” unterdrückt werden. Durch Funktionalisierung dieser zapfenförmigen Moleküle lassen sich Eigenschaften wie Benetzbarkeit, Brechungsindex und chemische Reaktivität einstellen. Die supramolekulare Organisation der Farbstoffe innerhalb der Kanäle entspricht einer ersten Organisationsstufe. Damit gelingt es, Licht im Volumen eines Nanokristalls zu sammeln und Anregungsenergie strahlungslos an die Enden des Zylinders oder umgekehrt von dort zur Mitte zu transportieren. Eine zweite Organisationsstufe ist die Kupplung an einen externen Acceptor‐ oder Donor‐Zapfenfluorophor an den Kanalenden, der elektronische Anregungsenergie abfängt oder einspeist. Die dritte, zum Teil noch hypothetische Stufe umfasst die Kupplung an eine externe Funktionseinheit über Zapfenmoleküle. Die Abstimmbarkeit dieser hochorganisierten Materialien bietet attraktive Möglichkeiten zur Untersuchung von elektronischen Energieübertragungsphänomenen und zur Entwicklung von neuen photonischen Funktionseinheiten.
Carbonylmetallkomplexe – eine neue Klasse von Pharmazeutika?
Authors: Johnson Tony R. , Mann Brian E. , Clark James E. , Foresti Roberta , Green Colin J. , Motterlini Roberto 
Published: August 2003

AbstractMittlerweile steht fest, dass NO trotz seiner hohen Toxizität in Säugetieren als Botenstoff fungiert. Da NO+ und CO isoelektronisch sind, sollte es nicht überraschen, dass CO eine gleichartige Funktion zukommt. Der Mensch produziert selbst etwa 3–6 cm3 CO pro Tag, wobei bestimmte Entzündungszustände sowie pathologische Bedingungen, die mit der Hämolyse der roten Blutkörperchen verbunden sind, die produzierte Menge merklich erhöhen. In den letzten zehn Jahren ist das Interesse an den biologischen Wirkungen von CO stark gestiegen und inzwischen gilt es in der medizinischen Literatur als gesichert, dass CO in Säugetieren eine wesentliche Rolle als Signalmolekül spielt. Dabei ist der Hauptwirkungsbereich das Herz‐Kreislauf‐System, z. B. bei der Unterdrückung von Abstoßungsreaktionen bei Organtransplantationen und beim Schutz des Gewebes vor ischämischer Schädigung und Apoptose. Vor kurzem wurde gezeigt, dass Carbonylmetallkomplexe im Organismus CO freisetzen und ähnliche biologische Wirkungen wie CO selbst zeigen können. Dies eröffnet die Möglichkeit, pharmazeutisch wichtige Carbonylmetallkomplexe zu entwickeln.
Host–Guest Antenna Materials
Authors: Calzaferri Gion , Huber Stefan , Maas Huub , Minkowski Claudia 
Published: August 2003

AbstractThe focus of this review is on host–guest composites with photonic antenna properties. The material generally consists of cylindrical zeolite L crystals the channels of which are filled with dye molecules. The synthesis is based on the fact that molecules can diffuse into individual channels. This means that, under the appropriate conditions, they can also leave the zeolite by the same way. In some cases, however, it is desirable to block their way out by adding a closure molecule. Functionalization of the closure molecules allows tuning of, for example, wettability, refractive index, and chemical reactivity. The supramolecular organization of the dyes inside the channels is a first stage of organization. It allows light harvesting within a certain volume of a dye‐loaded nanocrystalline zeolite and radiationless transport to both ends of the cylinder or from the ends to the center. The second stage of organization is the coupling to an external acceptor or donor stopcock fluorophore at the ends of the channels, which can trap or inject electronic excitation energy. The third stage of organization is the coupling to an external device through a stopcock molecule. The wide‐ranging tunability of these highly organized materials offers fascinating new possibilities for exploring excitation‐energy‐transfer phenomena, and challenges for developing new photonic devices.
Metal Carbonyls: A New Class of Pharmaceuticals?
Authors: Johnson Tony R. , Mann Brian E. , Clark James E. , Foresti Roberta , Green Colin J. , Motterlini Roberto 
Published: August 2003

AbstractIt is now established that NO is a messenger molecule in mammals despite its high toxicity. As NO+ and CO are isoelectronic, it should not be unexpected that CO could also have a role as a messenger. CO is produced naturally in humans at a rate of between 3 and 6 cm3 per day, and this rate is increased markedly by certain inflammatory states and pathological conditions associated with red blood cell hemolysis. Over the last 10 years, the interest in the biological effects of CO has greatly increased, and it is now established in the medical literature that CO does have a major role as a signaling molecule in mammals. It is particularly active within the cardiovascular system, for example, in suppressing organ graft rejection and protecting tissues from ischemic injury and apoptosis. Recently it has been shown that metal carbonyls can also function as CO‐releasing molecules and provide similar biological activities. This opens the possibility to develop pharmaceutically important metal carbonyls.
Wax moth, Galleria mellonella fat body receptor for high‐density lipophorin (HDLp)
Authors: Lee Chang Seok , Han Jik Hyon , Lee Sang Mong , Hwang Jae Sam , Kang Seok Woo , Lee Bong Hee , Kim Hak R. 
Published: August 2003

AbstractTo identify and characterize the HDLp (high‐density lipophorin) receptor from Galleria mellonella (LpRGm), we used techniques of ligand blotting. This method was, to our knowledge, first used to characterize the lipophorin receptor (LpR) in insects. LpRGm had an approximate molecular weight of 97 kDa under non‐reducing conditions and bound the HDLp specifically. The time‐course of lipophorin binding to their receptor protein was rapid. The binding of lipophorins to their receptors was saturable with a Kd of 34.33 ± 4.67 μg/ml. Although Ca2+ was essentially required in the binding of HDLp to their receptors, interestingly increasing concentration of Ca2+ has shown to have a slight inhibitory effect. EDTA was used here as Ca2+ chelating reagent, because Mg2+ in the binding buffer did not affect the binding of HDLp to their receptors, and inhibited the binding of HDLp and LpRGm absolutely. Suramin (polysulfated polycyclic hydrocarbon), known to inhibit the binding of lipoproteins to their receptors, effectively abolished the binding of HDLp to their receptors. LpRGm showed the stage specific binding activity especially in day 1–3 last instar larval, prepupal, and day 1–3 adult stages. Arch. Insect Biochem. Physiol. 54:14–24, 2003. © 2003 Wiley‐Liss, Inc.
Evidence for a LPS‐binding protein in medfly hemocyte surface: Mediation in LPS internalization but not in LPS signaling
Authors: Metheniti Aristea , Giannakas Nikos , Katsoulas Haralabos L. , Soldatos Anastasios N. , Tsakas Sotiris , Lambropoulou Maria 
Published: August 2003

AbstractA doublet of medfly hemocyte proteins with a molecular mass of about 55 and 50 kDa were precipitated with LPS. Antibodies raised against human CD14 recognize the same doublet of proteins. These results support that mammalian CD14 and the doublet of protein bands in medfly hemocytes share common epitopes. This doublet of protein bands is released from hemocytes upon LPS triggering. A portion of the released protein is clustered on the surface of a distinct hemocyte type and the other remains soluble. The membrane‐bound LPS‐binding protein is involved in LPS internalization and Escherichia coli phagocytosis but not in LPS signaling. Arch. Insect Biochem. Physiol. 54:25–36, 2003. © 2003 Wiley‐Liss, Inc.