bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy
Authors: Kato Rumiko , Kawamura Jun , Sugawara Hirobumi , Niikawa Norio , Matsumoto Naomichi 
Published: April 2004

AbstractFukuyama‐type congenital muscular dystrophy (FCMD) is characterized by congenital muscular dystrophy in combination with central nervous system (CNS) abnormalities. Differential diagnosis of FCMD from Duchenne and Becker muscular dystrophies (DMD/BMD) or other types of congenital muscular dystrophy is occasionally difficult, because of their phenotypic similarity. The gene (FCMD) responsible for FCMD at 9q31 was isolated in 1998. In Japan, most FCMD‐bearing chromosomes (87%) have a 3‐kb retrotransposal insertion into the 3′‐untranslated region (UTR) of the gene that could be derived from a single ancestral founder. Nine non‐founder mutations have been identified in Japanese FCMD patients. Severe phenotype was significantly more frequent in patients who were compound heterozygotes for a point mutation and the founder mutation, than in homozygotes for the founder mutation. We developed a PCR‐based diagnostic method for a rapid detection of the retrotransposal insertion mutation. Using this system, we screened 18 FCMD patients, and found 16 homozygotes and two heterozygotes for the insertion. We also evaluated the carrier frequency in the normal Japanese population. Six of 676 persons were recognized as a heterozygous carrier. Furthermore, we found three homozygotes for the FCMD founder mutation among 97 patients who had been said to have probable DMD/BMD without any DMD mutations. On the other hand, there were no FCMD homozygotes but four heterozygous carriers among 335 patients with DMD mutations. The diagnostic method we developed will provide a rapid and reliable diagnosis of FCMD, which can bring important information in genetic counseling, such as the accurate mode of inheritance, recurrence risk and a life expectancy. © 2004 Wiley‐Liss, Inc.
A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type
Authors: Faiyaz‐Ul‐Haque Muhammad , Zaidi Syed Hassan Ejaz , Al‐Ali Mariam , Al‐Mureikhi Mariam S. , Kennedy Shelley , Al‐Thani Ghalia , Tsui Lap‐Chee , Teebi Ahmad Said 
Published: April 2004

AbstractThe Ehlers–Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Several genes have been implicated to result in EDS phenotypes. The progeroid type of EDS is characterized by wrinkled, loose skin on the face, curly fine hair, scanty eyebrows and eyelashes, in addition to the classical features of EDS. Here we describe two similarly affected individuals in two sibships of a large consanguineous family from Qatar. DNA samples from affected and unaffected members of the family were analyzed for homozygosity of polymorphic markers associated with genes that have been implicated in EDS. Among 28 markers analyzed, homozygosity was only observed for D5S469 and D5S2111, which were markers for galactosyltransferase‐I (B4GALT7) located on chromosome 5q35.2, where the previously reported progeroid‐like variant of EDS has been mapped. Exons harboring the coding regions and exon–intron junctions of B4GALT7 were amplified by PCR and examined for mutations. A homozygous misssense C to T substitution at nucleotide 808 in the coding region was discovered in both affected individuals. The carrier parents were heterozygous for this mutation, which was not found among 76 DNA samples from control individuals of the same ethnicity. Segregation of this novel mutation in the family further confirmed the allelic variant and its recessive mode of inheritance in this type of EDS. The C to T substitution results in an arginine to cysteine change at amino acid residue 270 that is located in the catalytically active extracellular C‐terminal domain. This change could result in abnormal protein folding and/or aberrant interactions of mutated galactosyltransferase‐I with other extracellular matrix proteins leading to the development of a progeroid‐like phenotype in affected individuals. © 2004 Wiley‐Liss, Inc.
A 3‐bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia
Authors: Yoshida Rie , Miyata Masafumi , Nagai Toshiro , Yamazaki Toshio , Ogata Tsutomu 
Published: April 2004

AbstractA de novo 3‐bp deletion (179–181delGTG) was identified at exon 3 of the PTPN11 gene in a female infant with severe Noonan phenotype including hydrops fetalis and juvenile myelomonocytic leukemia. Since the 3‐bp deletion is predicted to result in loss of the 60th glycine in the N‐SH2 domain that is directly involved in the intramolecular interaction between the N‐SH2 and the PTP domains of the PTPN11 protein, this mutation would disrupt the N‐SH2/PTP binding in the absence of a phosphopeptide, leading to an excessive phosphatase activity. The results expand the spectrum of PTPN11 mutations in Noonan syndrome (NS), and suggest that a PTPN11 mutation leads to a wide range of clinical features of Noonan syndrome. © 2004 Wiley‐Liss, Inc.
New onset focal weakness in children with Down syndrome
Authors: Worley Gordon , Shbarou Rolla , Heffner Amy N. , Belsito Karin M. , Capone George T. , Kishnani Priya S. 
Published: April 2004

AbstractNew onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a combined population of patients of approximately 850, for a clinic population prevalence of 1.2%. The median age at presentation was 4 years old (range 1 month–44 years). The causes of new onset focal weakness were: stroke from Moyamoya disease (two patients); stroke from vaso occlusive disease (one patient); stroke from venus sinus thrombosis (one patient); traumatic subdural hematoma (one patient); brain abscess (one patient); spinal cord injury (SCI) from cervical spinal stenosis (two patients); SCI from atlantoaxial instability (AAI) (one patient); and brachial plexus injury (one patient). Of the 10 patients with focal weakness, 8 had potentially treatable conditions, and 5 had surgery. The differential diagnosis of new onset focal weakness in DS is broad, with diseases reported involving all levels of the nervous system from brain to muscle. For some diagnoses, expeditious diagnosis may improve outcome. © 2004 Wiley‐Liss, Inc.
Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
Authors: Yatsenko Svetlana A. , Sahoo Trilochan , Rosenkranz Melinda , Mendoza‐Londono Roberto , Naeem Rizwan , Scaglia Fernando 
Published: April 2004

AbstractWe report a case of an X;1 translocation in a 9‐month‐old female infant with mild dysmorphic features and developmental delay. High‐resolution chromosome analysis revealed a de novo, unbalanced translocation between chromosomes X and 1 [46,X,der(X),t(X;1)(q28;q32.1)]. Breakpoints on the derivative X and the size of the translocated segment have been defined by fluorescence in situ hybridization (FISH) with Xq and 1q specific probes. The rearrangement in this patient results in monosomy for Xq28‐qter and trisomy for 1q32.1‐qter. Replication studies demonstrated late replication of the derivative X in 80% of the observed cells, with the exception of 20% of the cells where X inactivation failed to spread into the translocated 1q segment. Patients with pure trisomy for the distal segment of 1q present a considerably more severe phenotype compared to that seen in our patient, including facial dysmorphisms, urogenital and cardiac anomalies. We suggest that the absence of many of the characteristic features for trisomy 1q in our patient, may reflect a mosaic pattern of inactivation of the translocated autosomal segment on the derivative X chromosome. © 2004 Wiley‐Liss, Inc.
DRD2 −141C insertion/deletion polymorphism is not associated with schizophrenia: Results of a meta‐analysis
Authors: Glatt Stephen J. , Faraone Stephen V. , Tsuang Ming T. 
Published: April 2004

AbstractThe gene DRD2, which codes for dopamine receptor D2, has been considered a prime candidate for allelic association testing with schizophrenia based on the strong evidence for involvement of this protein in disease pathophysiology. Recent meta‐analyses confirmed a small but reliable association between schizophrenia and the cysteine‐coding allele of the Cys311Ser polymorphism of DRD2. In the present study, we sought to determine if another polymorphism (the −141C insertion/deletion) in the same gene, which has been reported to be associated with schizophrenia in several individual studies, would show a similar pattern of association with the disease in a pooled dataset. The pooled odds ratio for the insertion allele obtained from 10 case‐control studies was 1.1, which was not significant (P = 0.580); however, there was marked heterogeneity among the findings of individual studies, suggesting that some underlying factor influenced the size of their observed effects. Yet, neither ethnicity, the age of the control group, nor the gender composition of the samples reliably influenced effect size. Because linkage disequilibrium patterns between various DRD2 polymorphisms are not yet known, it remains possible that divergent meta‐analytic findings at both commonly examined mutation sites within DRD2 are accurate. Haplotype analysis within this gene would be useful for definitively specifying the role of this gene in the etiology of schizophrenia. © 2004 Wiley‐Liss, Inc.
An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease
Authors: Rosenmann Hanna , Meiner Zeev , Kahana Esther , Aladjem Zoja , Friedman Gideon , Ben‐Yehuda Arie , Grenader Tal , Wertman Eli , Abramsky Oded 
Published: April 2004

AbstractAccumulating evidence indicates that the heparan‐sulfate‐proteoglycan (perlecan, HSPG2), as well as other specific proteoglycans, are involved in amyloidogenesis and tau aggregation in Alzheimer's disease (AD). Moreover, the HSPG2 is located on chromosome 1p36, a region of linkage to late‐onset AD (LOAD). These two criteria, pathological and positional, make the HSPG2 an interesting candidate for an association with AD. We performed a case‐control association study between the common intron 6 BamHI polymorphism at a region of putative heparan‐sulfate (HS) attachment sites in the HSPG2 gene and sporadic AD in Jews. No association was detected with AD, neither as a risk factor nor as a modifier gene affecting the age at disease onset and disease progression. In addition, no interactive effect was found with the known risk factor for AD, the apolipoprotein E (APOE) ε4. These findings show no evidence for association between HSPG2 intron 6 BamHI polymorphism and AD in our population. © 2004 Wiley‐Liss, Inc.
Polymorphisms in the MAOA, MAOB, and COMT genes and aggressive behavior in schizophrenia
Authors: Zammit Stanley , Jones Gaynor , Jones Susan J. , Norton Nadine , Sanders Robert D. , Milham Charis , McCarthy Geraldine M. , Jones Lisa A. , Cardno Alastair G. , Gray Marion , Murphy Kieran C. , O'Donovan Michael C. , Owen Michael J. 
Published: April 2004

AbstractSome studies have reported associations between COMT and MAO genotypes and aggression, though results have been inconsistent. We examined the relationship between Overt aggression scale (OAS) scores, and both MAOA and MAOB polymorphisms in a well‐powered sample of 346 subjects with schizophrenia. We also examined COMT in a Stage II replication sample of 150 individuals, and combined these results with our previously reported (Stage I) findings for COMT. We found no evidence of any associations between OAS ratings and any of the polymorphisms investigated under different genetic models. There was no evidence of epistatic interaction between MAOA and COMT on OAS scores. These results fail to support the theory that functional polymorphisms within the MAOA, MAOB, or COMT genes, as determinants of catecholamine enzymatic activity, are risk factors for aggressive behavior. © 2004 Wiley‐Liss, Inc.
Circular dichroism of prophenol oxidase in relation to the structural stability in Drosophila melanogaster
Authors: Asada Nobuhiko , Namba Masayoshi , Kodama Takashi , Kyogoku Yoshimasa 
Published: April 2004

AbstractCircular dichroism (CD) of purified Drosophila melanogaster prophenol oxidase has been measured in the range of 195–245 nm. So far, few investigations about the interaction on higher‐order structures have been performed. CD spectra of Drosophila prophenol oxidase with 2‐propanol activator showed fluctuation of α‐helices. At a high temperature of 80°C, prophenol oxidase was partially denatured. However, it showed reversible recovery by renaturation after returning to low temperature at 30°C. The conformational changes and reversible denaturation‐renaturation interaction of the prophenol oxidase protein are discussed. Arch. Insect Biochem. Physiol. 56:1–6, 2004. © 2004 Wiley‐Liss, Inc.
Hyphantria cunea ferritin heavy chain homologue: cDNA sequence and mRNA expression
Authors: Kim Hong Ja , Yun Chi Young , Cheon Hyang Mi , Chae Boa , Lee In Hee , Park Seun Ja , Kang Young Jin , Seo Sook Jae 
Published: April 2004

AbstractWe have sequenced a cDNA clone encoding a 26‐kDa ferritin subunit, which was heavy chain homologue (HCH), in fall webworm, Hyphantria cunea. The HCH cDNA was obtained from the screening of a cDNA library using a PCR product. H. cunea ferritin is composed of 221 amino acid residues and their calculated mass is 26,160 Da. The protein contains the conserved motifs for the ferroxidase center typical for heavy chains of vertebrate ferritin. The iron‐responsive element sequence with a predicted stem‐loop structure is present in the 5′‐untranslated region of ferritin HCH mRNA. The sequence alignment of ferritin HCH shows 68.9 and 68.7% identity with Galleria mellonella HCH (26 kDa ferritin) and Manduca sexta HCH, respectively. While G type insect ferritin vertebrate light chain homologue (LCH) is distantly related to H. cunea ferritin HCH (17.2–20.8%), the Northern blot analysis revealed that H. cunea ferritin HCH was ubiquitously expressed in various tissues and all developmental stages. The ferritin expression of midgut is more responsive to iron‐fed, compared to fat body in H. cunea. Arch. Insect Biochem. Physiol. 56:21–33, 2004. © 2004 Wiley‐Liss, Inc.
Profiling catalase gene expression in Drosophila melanogaster during development and aging
Authors: Klichko Vladimir I. , Radyuk Svetlana N. , Orr William C. 
Published: April 2004

AbstractCatalase represents one of the key antioxidant enzymes (AOE) in the metabolism of oxygen free radicals. A comprehensive analysis was brought to bear on establishing catalase gene expression profiles during development and aging, with the underlying objective being to identify potential regulatory factors. Expression of the catalase gene exhibits substantial variations during development and aging in a stage‐ and tissue‐specific manner. At the temporal level, previous observations of the coincidence of ecdysteroid pulses with peaks in catalase expression during developmental stages were largely corroborated. In adults, a small but significant decline in catalase expression was noted in adults as a function of age. Spatially, it was ascertained that catalase expression is mostly confined to tissues related to intermediary metabolism, digestive and adipose systems as well as oenocytes. By combining histochemical analysis of reporter gene expression with immunostaining of the endogenous product, it was possible to identify putative positive and negative regulatory elements that control catalase expression. Finally, when adult flies were subjected to various environmental insults, such as heat, paraquat, hyperoxia and H2O2, no significant responses were observed, suggesting that catalase gene expression is largely governed by intrinsic genetic programs. Arch. Insect Biochem. Physiol. 56:34–50, 2004. © 2004 Wiley‐Liss, Inc.
Surface enhanced Raman scattering of a lipid Langmuir monolayer at the air–water interface
Authors: Mangeney C. , Dupres V. , Roche Y. , Felidj N. , Levi G. , Aubard J. , Bernard S. 
Published: April 2004

AbstractSurface enhanced Raman spectra were recorded from a phospholipid monolayer directly at the air–water interface. We used an organized monolayer of negatively charged tetramyristoyl cardiolipins as a template for the electrochemical generation of silver deposits. This two‐dimensional electrodeposition of silver under potentiostatic control was the substrate for enhancement of Raman spectra. We report the optimized conditions for the Raman enhancement, the microscopic observations of the deposits, and their characterization by atomic force microscopy. Laser excitation at 514.5 nm leads to intense and reproducible surface enhanced Raman scattering spectra recorded in situ from one monolayer of cardiolipin, using 0.5 mol % of 10N nonyl acridine orange or 5 mol % of acridine in the film, and demonstrates the possibility of estimating the pH at the metal/phospholipidic film interface. © 2004 Wiley Periodicals, Inc. Biopolymers, 2004
Combined effect of electrical stimulation and cisplatin in HeLa cell death
Authors: Manabe Masafumi , Mie Masayasu , Yanagida Yasuko , Aizawa Masuo , Kobatake Eiry 
Published: April 2004

AbstractThe combined effect of electrical stimulation and cisplatin administration on HeLa cells was investigated. The combination of electric potentials (−0.5 V to 0.5 V) with 10‐Hz frequency and 1000 ng/mL cisplatin decreased cancer cell viability by 32% and was more effective than either treatment given alone. Combined treatment with cisplatin and electrical stimulation also increased the number of apoptotic cells. It is shown that the efficacy of cisplatin was enhanced in electrically stimulated HeLa cells, and the addition of electrical stimulation amplified the chemotherapeutic effect of cisplatin in cervical cancer cells. © 2004 Wiley Periodicals, Inc.
Prediction of mediastinal lymph node metastasis in medullary thyroid carcinoma
Authors: Machens A , Holzhausen H-J , Dralle H 
Published: April 2004

Abstract

Background
Mediastinal lymph node metastases can be life threatening owing to their proximity to vital organs. Reliable identification of mediastinal metastasis is of utmost importance for timely mediastinal lymph node dissection, although suitable clinicopathological variables for their detection in patients with thyroid cancer have yet to be identified.

Methods
This was an analysis of 83 consecutive patients with radiological suspicion of mediastinal metastasis who underwent trans-sternal mediastinal lymph node dissection for node-positive medullary thyroid carcinoma between November 1994 and March 2003.

Results
Univariate analysis revealed that extrathyroidal extension (P &lt; 0·001), distant metastasis (P = 0·001), the preoperative serum calcitonin level (P = 0·001), operation type (P = 0·004), contralateral cervicolateral metastasis (P = 0·016) and bilateral nodal metastasis (P = 0·031) were significantly associated with mediastinal involvement. Only extrathyroidal extension remained significant in a multivariate logistic regression analysis of mediastinal lymph node metastasis. Prediction of mediastinal metastasis by extrathyroidal extension was best at reoperation, with a specificity of 97 per cent and a positive predictive value of 88 per cent.

Conclusion
Mediastinal lymph node dissection should be considered in patients undergoing reoperation for node-positive medullary thyroid carcinoma who have extrathyroidal extension and cervical lymph node metastases.
Use of donor aorta for arterial reconstruction in paediatric liver and multivisceral transplantation
Authors: Nishida S , Vaidya A , Kato T , Nakamura N , Madariaga J , Tzakis A 
Published: April 2004

Abstract

Background
Arterial reconstruction remains the most important technical issue in paediatric transplantation. The arteries of paediatric donors as well as recipients are small and friable. The aim of this study was to assess the use of the donor aorta as a conduit for arterial reconstruction in paediatric liver and multivisceral transplantation.

Methods
Between June 1994 and January 2002, 284 paediatric transplants, including 197 cadaveric liver and multivisceral transplants, were performed in children at this centre. Of these, 41 (20·8 per cent), including nine cadaveric liver transplants and 32 multivisceral transplants, were revascularized by donor aortic reconstruction. Patient demographics, types of donor arterial reconstruction, technical complications and incidence of hepatic artery thrombosis were reviewed.

Results
None of the 41 donor aortic reconstructions used in revascularization of paediatric liver and multivisceral transplants thrombosed. There were no bleeding complications and no pseudoaneurysms developed.

Conclusion
Arterial reconstruction using donor aorta is a useful option with a low incidence of thrombosis in paediatric transplantation.
Measurement of right ventricular volume from biplane contrast ventriculograms: Validation by cast and three‐dimensional echo
Authors: Sheehan Florence H. , Bolson Edward L. 
Published: April 2004

AbstractWe compared six models for measuring right ventricular (RV) volume from biplane ventriculograms in the 30° right anterior oblique and 60° left anterior oblique projections in adult and dilated RVs. We used 27 casts of normal RVs plus 37 three‐dimensional (3D) echocardiographic RV reconstructions that we rotated to the oblique projections for contour extraction. Biplane volumes were computed using published formulas. RV volumes ranged from 18.9 to 322.4 ml. Both sets of volumes correlated similarly to true volume and were combined. Simpson's method with 50 slices yielded the lowest absolute error (19.5 ± 28.9 ml); Simpson's with 20 slices yielded the lowest bias (1.3 ± 35.7 ml). The prism and area‐length models performed within this range. The Simpson's method provides the most accurate measurement of RV volume from biplane contrast ventriculograms recorded in oblique projections. Volume validation can be performed using 3D echo data. Catheter Cardiovasc Interv 2004;62:46–51. © 2004 Wiley‐Liss, Inc.
Coronary angioplasty on an impassable calcified stenosis using a buddy balloon technique
Authors: Li Steven Siu‐Lung , Cheng Cheung‐Wah 
Published: April 2004

AbstractWe report our experience in coronary angioplasty on a calcified lesion that was not passable with balloon catheters despite an adequate preangioplasty lumen size on angiogram and intravascular ultrasonography study. The angioplasty was successfully performed with a simple and inexpensive buddy balloon technique. Catheter Cardiovasc Interv 2004;62:35–37. © 2004 Wiley‐Liss, Inc.