bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evidence for Ritscher‐Schinzel syndrome in Canadian native Indians
Authors: Marles Sandra L. , Chodirker Bernard N. , Greenberg Cheryl R. , Chudley Albert E. 
Published: June 2005

AbstractWe report on 8 (3 male, 5 female) native Canadian children with distinctive facial appearance and variable combinations of ocular colobomas, hypertelorism, macrocephaly, hand anomalies, congenital heart defects, structural CNS posterior fossa malformations, and mental retardation. These 8 children belong to 7 families; 3 of the families are related. The parents and other sibs are clinically unaffected. We think these manifestations provide evidence for Ritscher‐Schinzel syndrome in native Canadian children, and we have confirmed that ocular colobomas are a common occurrence in this disorder. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis of retinal nonattachment in the Walker‐Warburg syndrome
Authors: Chitayat David , Toi Ants , Babul Riyana , Levin Alex , Michaud Jacques , Summers Ann , Rutka James , Blaser Susan , Becker Laurence E. 
Published: June 2005

AbstractWe report on the prenatal ultrasonographic diagnosis of Walker‐Warburg syndrome based on cerebral and ocular findings. The ultrasound study done at 37 weeks gestation documented hydrocephalus and retinal nonattachment consistent with this syndrome. The ability to detect retinal nonattachment prenatally may have implications for the prenatal diagnosis of other conditions which have early retinal nonattachment as one of their findings. However, it is uncertain how early in pregnancy this defect can be detected. © 1995 Wiley‐Liss, Inc.
Primary midline developmental field. I. Clinical and epidemiological characteristics
Authors: Martínez‐Frías María‐Luisa 
Published: June 2005

AbstractOpitz [BD: OAS XXIX(1): 3‐37, 1993] has postulated that during early blastogenesis the entire embryo represents a single morphogenetic unit, the primary field. During this period, beginning gastrulation, the most important events are the formation of the midline and the mesoderm. Consequently, one could expect that dysmorphogenetic reactions of the primary field are likely to disturb more than one of the essential events of blastogenesis, such as fusion, lateralization, decussation, segmentation, morphogenetic movements, asymmetry formation, etc.I have used the 20,891 liveborn malformed infants identified by the Spanish Collaborative Study of Congenital Malformations (ECEMC) to analyze the concept of the primary field defect (DFD). The malformed children were separated into 4,679 children with only midline defects, 1,592 children with midline plus other non‐midline anomalies, and 14,620 babies without midline defects. Sex, twinning, neonatal death, parental consanguinity, and other malformed first degree relatives in the family were analyzed in each group. Different defects were selected as indicators of specific morphogenetic events of blastogenesis. Cardiac and neural tube defect were selected as indicators of fusion anomalies; agenesis/hypoplasia of the corpus callosum were included as example of decussation defect; cyclopia as representation of the alteration of lateralization; vertebral defects as indicators of anomalies of segmentation; intestinal malrotation and omphalocele as representatives of the alteration of the morphogenetic movement; and, finally, infants with asplenia, polysplenia, dextrocardias, transposition of great vessels, visceral transposition, and situs inversus totalis were grouped to allow an analysis of alteration of the normal body asymmetry.The results of this analysis demonstrate, from an epidemiological standpoint, that the infants with midline anomalies have alteration of the normal body asymmetry more frequently than infants without midline defects. Children with midline anomalies have more severe malformations with high lethality, associated with twinning, without sex differences in occurrence, and with low recurrence risk, than do infants without midline defects, as was suggested by Opitz [BD: OAS XXIX(1): 3–37, 1993]. © 1995 Wiley‐Liss, Inc.
Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(xpter→xq26.1::15p11→15qter)
Authors: Scheuerle Angela , Zenger‐Hain Julie L. , Van Dyke Daniel L. , Ledbetter David H. , Greenberg Frank , Shaffer Lisa G. 
Published: June 2005

AbstractWe present a patient with a chromosomal mosaicism involving the X chromosome. One cell line is 45,X and the other has a de novo paternally derived dicentric X;15 translocation. Her karyotype is therefore 45,X/45,X,dic(X;15)(Xpter→Xq26.1: : 15p11→15 qter) based on G‐banding. The presence of 2 centromeres on the derivative X was confirmed by fluorescence in situ hybridization (FISH) and a deletion of Xq26.1→qter was confirmed by polymerase chain reaction (PCR) using DXS52 and DXYS154. Replication banding studies indicate that the derivative X is late replicating. Based on these studies, it is unclear whether inactivation has spread to proximal 15q. The patient has a unique phenotype distinct from Ullrich‐Turner or Prader‐Willi syndromes, but includes ataxia and language delay which are commonly seen in Angelman syndrome. These findings are contrary to those anticipated since deficiency of paternal genes at 15q12 typically leads to Prader‐Willi syndrome. Molecular analysis of PCR‐based polymorphisms of chromosome 15 and X indicates that uniparental disomy is not present for the X chromosome or chromosome 15 in either cell line. It is hypothesized that her phenotype results from the interaction of the 2 abnormal genotypes. Each abnormality may be diluted by the mosaicism and, in the derivative X line, by the possible variation among cells of inactivation spreading to chromosome 15. © 1995 Wiley‐Liss, Inc.
High resolution genetic map of the adenomatous polyposis coli gene (APC) region
Authors: Olschwang Sylviane , Laurent‐Puig Pierre , Melot Thomas , Thuille Bénédicte , Thomas Gilles 
Published: June 2005

AbstractFamilial adenomatous polyposis coli (APC) is a dominantly inherited colorectal cancer susceptibility disease caused by mutation in a gene called APC and located on chromosome 5q21. Presymptomatic diagnosis of this condition is recommended because it enables restriction of the efficient but demanding prevention program to those relatives that are genetically affected. The large size of the APC gene makes the direct search for the causal alteration difficult to implement in routine diagnostic laboratories. Because APC appears to be genetically homogeneous with alteration in a single locus causing the disease, cosegregation analysis may represent an alternative efficient method for presymptomatic diagnosis. However, the reliability of the risk estimation by linkage analysis in APC families is hampered by the lack of a short range genetic map of the APC locus. A combined approach including genotyping of 65 APC families, analysis of the CEPH database, and complementary typing of both APC and CEPH families has made it possible to derive the following genetic map: Centromere‐[D5S82‐D5S49]‐0.02‐D5S122‐0.01‐D5S136‐0.01‐D5S135‐0.02‐[APC‐D5S346‐MCC]‐0.04‐[D5S81‐D5S64]‐Telomere. This order, which differs from previously proposed genetic maps, is fully compatible with recent physical mapping data. These data should contribute to increase the reliability of the presymptomatic test for APC. © 1995 Wiley‐Liss, Inc.
Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: A syndrome?
Authors: Jurenka Stanislava B. , Van Allen Margot I. 
Published: June 2005

AbstractWe present a 40‐year‐old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our knowledge, the association of MSBD and mental retardation has not been previously reported. © 1995 Wiley‐Liss, Inc.
Lipoma of corpus callosum associated with dysraphic lesions and trisomy 13
Authors: Wainwright Helen , Bowen Robert , Radcliffe Marlon 
Published: June 2005

AbstractWe report on a further case of corpus callosal lipoma and frontal cranial defects. Most cases in the literature of corpus callosal lipoma in association with “dysraphic” lesions have been frontal in location. Malformation of the corpus callosum is said to be associated with 50% of these lipomas. Trisomy 13 was confirmed by the 13q14 cosmid probe on paraffin‐embedded liver tissue. © 1995 Wiley‐Liss, Inc.
Further contribution to the description of phenotypes associated with partial 4q duplication
Authors: Zollino M. , Zampino G. , Torrioli G. , Pomponi M. G. , Neri G. 
Published: June 2005

AbstractWe report on a 15‐year‐old girl with a previously undescribed de novo duplication of segment 4q13.1→q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22‐q23, which may be involved in the development of the acrorenal field. © 1995 Wiley‐Liss, Inc.
Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid‐lipofuscinosis
Authors: Kida Elzbieta , Wisniewski Krystyna E. , Connell Fred 
Published: June 2005

AbstractA subset of lipophilic neurons in the brain tissue of late infantile neuronal ceroid lipofuscinosis (LINCL) cases shows in addition to finely granular storage lipopigment, larger spheroidal lysosomal inclusions, so called protein‐type myoclonus bodies. Their incidence, significance, and biochemical composition have not been determined. To further characterize this type of lysosomal storage material, immunocytochemistry to subunit c of mitochondrial ATP synthase at the light and electron microscopy level, electron microscopy, and lectin histochemistry were applied. The majority of spheroidal inclusions were nonreactive to subunit c, the main protein component of the storage material in LINCL. These inclusions also showed no binding sites for the eight lectins examined, although six of the lectins used labeled finely granular storage material. According to electron and immunoelectron microscopy, spheroidal inclusions were composed of more homogeneous and more densely arranged material than typical curvilinear profiles, with shorter membranous profiles and sometimes filamentous structures. The dissimilarities disclosed between finely granular lipopigment with curvilinear profiles and spheroidal inclusions in LINCL brain tissue suggest that either protein(s) other than subunit c are present in spheroidal inclusions, or subunit c in these sites undergoes conformational or proteolytic changes. These changes require further biochemical evaluations. © 1995 Wiley‐Liss, Inc.
Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells
Authors: Goebel Hans Hilmar , Warlo Irene , Klockgether Thomas , Harzer Klaus 
Published: June 2005

AbstractLipopigments with fingerprint profiles in eccrine sweat gland epithelial cells are regular findings in childhood NCL. They have also been described in adult NCL (ANCL) a few times, but not consistently. However, they have been considered nonspecific when not matched by similar abnormal profiles in noneccrine sweat gland epithelial cells. These conflicting reports may pose a diagnostic dilemma as outlined in the following 2 examples. Patient 1 is a 20‐year‐old man who developed severe tetraparesis and dementia over 2 years. Electroencephalogram was abnormal with epileptiform discharges. The patient died at age 21 years without autopsy; no other relatives are known to have a similar disease. Patient 2, a 49‐year‐old woman, developed ataxia and gait abnormalities when 44 years old, and, later, psychosis and dementia. The patient is still alive; no other family members are similarly affected. Both patients lacked evidence of a retinopathy clinically, funduscopically, and by electroretinography. Both patients showed lipopigments within secretory eccrine sweat gland epithelial cells which harbored unequivocal fingerprint profiles, but not within noneccrine sweat gland cells. Regular lipofuscin was observed in other cells, including skeletal muscle fibers of patient 2. © 1995 Wiley‐Liss, Inc.
Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid‐lipofuscinosis
Authors: Kieseier Bernd C. , Goebel Hans Hilmar 
Published: June 2005

AbstractCD4+, CD8+, and CD56+ cells were isolated with the immunomagnetic separation technique from peripheral blood mononuclear cells (PBMC) of 3 patients with neuronal ceroid‐lipofuscinosis: one patient each with infantile (INCL), late infantile (LINCL), and juvenile (JNCL) neuronal ceroid‐lipofuscinoses, all studied by light (LM) and electron (EM) microscopy. To compare the pathology of these cells with affected cells in other types of lysosomal diseases, the separation was also performed with PBMC of 1 patient with mucolipidosis (ML) type II, 2 patients with mucopolysaccharidosis (MPS) type I, and 4 patients with MPS type III. Diseasespecific lysosomal inclusions were identified in CD4+, CD8+, and CD56+ cells. Subclass‐specific storage products could not be found. T4 and T8 lymphocytes showed nearly the same ratio of affected to nonaffected cells.These results suggest that lysosomal storage can be found in most of the lymphocyte subclasses in these forms of neuronal ceroid‐lipofuscinoses and other lysosomal diseases. © 1995 Wiley‐Liss, Inc.
Late‐infantile Batten disease: Purification of the subunit c of the mitochondrial ATP synthase from storage material
Authors: Hagopian Kevork , Lake Brian D. , Winchester Bryan G. , Clark John B. 
Published: June 2005

AbstractThe accumulation of subunit c of the mitochondrial ATP synthase in late‐infantile neuronal lipofuscinosis (LINCL) and juvenile neuronal lipofuscinosis (JNCL) is well documented. The purification of the subunit from diverse sources has been reported previously, although not from the brain of Batten disease patients. This proteolipid has now been purified from late‐infantile Batten disease brain. The procedures used were an original combination of the conventional solubilisation, differential centrifugation, organic solvent extractions, preparative gel electrophoresis, and FPLC. Gel filtration of the purified protein indicated molecular mass equal to or greater than 2 × 106 Da; however, electrophoresis of this pure protein suggested a molecular mass of approximately 3,500 Da, which is a characteristic of subunit c. The pure protein may be solubilised in aqueous buffer containing <1% lithium dodecyl sulphate (LDS). The protein binds dicyclohexylcarbodiimide (DCCD) and shows immunoreactivity to antibodies raised against ovine storage bodies. © 1995 Wiley‐Liss, Inc.
Variant proteins in ovine ceroid‐lipofuscinosis
Authors: Moroni‐Rawson Pisana , Palmer David N. , Jolly Robert D. , Jordan T. William 
Published: June 2005

AbstractTwo‐dimensional polyacrylamide gel electrophoresis has been used to search for diseaserelated protein variation in South Hampshire sheep with ovine ceroid‐lipofuscinosis. Several hundred proteins in homogenates and subcellular fractions from livers have been examined, using isoelectric focusing as the first dimension separation, and SDS PAGE in the second dimension. Under these circumstances it was not possible to detect subunit c of the Fo region of ATP synthase, as this protein did not enter the isoelectric focusing gels. However, our studies emphasize the selective nature of misprocessing of subunit c, as we have not been able to detect any other consistent variation between affected and control animals for over 200 mitochondrial fraction proteins. Comparison of the presence or absence, and abundance, of proteins from isolated storage bodies with their counterparts in subcellular fractions from normal liver indicated that storage bodies contained a small subset of mitochondrial proteins, in addition to subunit c, with possible minor contributions from lysosomal, microsomal, and soluble proteins. Analysis of extramitochondrial proteins showed greater than 10–20‐fold accumulation of ferritin light chains in microsomes, and partial loss of a putatively lysosomal protein, in ovine ceroid‐lipofuscinosis. In addition, senescence marker protein was more abundant in the cytoslic fraction of controls, compared with affected individuals. We are currently investigating the basis and significance of these differences. © 1995 Wiley‐Liss, Inc.
Abnormal acid phosphatases in neuronal ceroid‐lipofuscinoses
Authors: Khan K. M. Faisal , Brooks Susan Sklower , Pullarkat Raju K. 
Published: June 2005

AbstractAcid phosphatases in brain and cultured lymphoblasts from patients affected with neuronal ceroid‐lipofuscinoses (NCL) were studied by starch gel electrophoresis. After electrophoresis the gel was incubated with 4‐methyl umbelliferyl phosphate at pH 4.5 and the fluorescent reaction product was visualized under ultraviolet light. Control brain showed a single band with mobility of about 1 cm while NCL patients showed two additional fast moving bands. In the lateinfantile, and in the adult form (Kufs disease), the middle band was prominent while the fast moving band was predominant in juvenile NCL. In long‐term lymphoblasts, controls showed a single band of acid phosphatase activity while both juvenile and late‐infantile NCL showed two additional fast moving bands. Obligate heterozygotes showed reduced levels of the fast moving bands. Fluorometric assay of acid phosphatase using 4‐methylumbelliferyl phosphate as substrate showed a 2‐fold increase in activity in the patients. The increased acid phosphatase activity is completely inhibited by tartrate. Lymphocyte hexosamnidase activities were unchanged in NCL patients lymphoblasts. Studies on brains of NCL patients and on cultured lymphoblasts from families with late‐infantile and juvenile form of NCL showed that abnormal acid phosphatase is characteristic of NCL © 1995 Wiley‐Liss, Inc.
Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid‐lipofuscinosis (Batten disease)
Authors: Boriack Richard L. , Cortinas Elma , Bennett Michael J. 
Published: June 2005

AbstractWe have previously demonstrated reduced phospholipid fatty acid content in blood cells and cultured skin fibroblasts from patients with JNCL. This has led to an experimental treatment regimen consisting of dietary supplementation with polyun‐saturated fatty acids (PUFAs).In order to study the effects of PUFA supplementation in vitro, we have developed a laboratory model based upon cultured lymphoblast cell lines. We have transformed lymphocytes from four JNCL patients in whom disease linkage to chromosome 16 was informative. Cells from patients and controls were cultured with and without antibiotic (50 μg/ml gentamycin) and with and without PUFA supplementation.None of the control cells demonstrated significant storage under any of the above conditions. In gentamycin treated cells, we observed that many of the mitochondria were damaged. In addition, cells from patients incubated with gentamycin demonstrated large accumulations of autofluorescent storage material. Disease cells grown in the presence of antibiotic and PUFAs did not demonstrate a significant accumulation of storage material; this suggests a direct relationship between mitochondrial damage and storage of autofluorescent material. Moreover, it appears that this storage (but not mitochondrial damage) is reversed by the addition of PUFAs. © 1995 Wiley‐Liss, Inc.
Erythrocyte membrane reacylation in juvenile neuronal ceroid‐lipofuscinosis: Measurement of membrane‐bound carnitine palmitoyl transferase, acyl‐CoA synthetase, and lysophospholipid: Acyl‐CoA acyltransferase activities
Authors: Bennett Michael J. , Boriack Richard L. 
Published: June 2005

AbstractIn order to study the biochemical mechanisms responsible for the membrane fatty acid deficiency in juvenile neuronal ceroidlipofuscinosis, we have analyzed the reacylation pathway in isolated erythrocyte membranes in 5 patients. We studied membrane carnitine palmitoyl transferase, and developed a combined assay to study acyl‐CoA synthetase and lysophospholipid acyl‐CoA acyltransferase activities. There were no significant differences between control and patient membranes, suggesting that abnormalities in these 3 putative candidate enzymes are not responsible for the disease.
Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid‐lipofuscinosis
Authors: Taschner Peter E. M. , de Vos Nanneke , Catsman‐Berrevoets Coriene E. , van Duinen Sjoerd G. , Lindhout Dick , Breuning Martijn H. 
Published: June 2005

AbstractAccurate diagnosis of neuronal ceroid lipofuscinosis (NCL) is important for a correct prognosis of the disease and for genetic counseling. Up to now, no direct diagnostic test has been available for NCL. The clinical diagnosis is made on the basis of symptoms, neurophysiological, neuroradiological, and specific lipopigment pattern data. Recent advances in the genetics of NCL have enabled us to use polymorphic DNA markers linked to the CLN1 and CLN3 loci as a tool in the differential diagnosis of NCL. We have applied genetic analysis with polymorphic DNA markers flanking the CLN3 gene on chromosome 16 to two consanguineous families in which NCL occurs. In the first family, which is of Turkish extraction, two patients suffering from a protracted form of juvenile NCL previously had been diagnosed with juvenile NCL. Haplotypes from this family indicate that the patients and their healthy sibling are haplo‐identical, suggesting that this protracted form of juvenile NCL is not linked to the CLN3 locus. In the second family, which is of Moroccan origin, one patient suffers from the early juvenile variant of NCL (Lake‐Cavanagh). In this family, the patient and one of the healthy siblings have identical haplotypes, excluding linkage of early juvenile NCL to the CLN3 locus on 16p12.1‐11.2. Therefore, these cases from different populations demonstrate that haplotype analysis can be used as an additional method to exclude the diagnosis of juvenile NCL. © 1995 Wiley‐Liss, Inc.
Linkage analysis of late‐infantile neuronal ceroid‐lipofuscinosis
Authors: Sharp Julie , Savukoski Minna , Wheeler Ruth B. , Harris Juliette , Järvelä Irma , Peltonen Leena , Gardiner Mark , Williams Ruth 
Published: June 2005

AbstractThe neuronal ceroid‐lipofuscinoses (NCL) are a group of neurodegenerative disorders with an autosomal‐recessive pattern of inheritance. There are 3 main categories of childhood NCL, namely, infantile, late‐infantile, and juvenile NCL. These can be distinguished on the basis of age of onset, clinical course, and histopathology. A number of variant forms of NCL have also been described, and these show symptoms intermediary between the main classical forms. The genes for both the infantile and juvenile forms of NCL have previously been mapped to chromosome areas 1p32 and 16p12, respectively. The gene for late‐infantile NCL (LINCL), CLN2, has been excluded from both these loci, but its location is as yet unknown. Recently, CLN5, the gene for the Finnish variant form of LINCL, was mapped to 13q21.1–32. Using the 3 microsatellite markers which were most tightly linked to CLN5, we have excluded CLN2 from this region using a subset of 17 families. Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. © 1995 Wiley‐Liss, Inc.