bluuebunny/crossref_metadata_2025_split huggingface dataset:
Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes
Authors: Dincsoy Mehmet Y. , Salih Mustafa A. M. , Al‐Jurayyan Nasir , Al Saadi Muslim , Patel Pravinchandra J. 
Published: June 2005

AbstractWe report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome. © Wiley‐Liss, Inc.
46,XY/47,XYY/48,XYYY karyotype in a 3‐year‐old boy ascertained because of radioulnar synostosis
Authors: James Con , Robson Lisa , Jackson Julianne , Smith Arabella 
Published: June 2005

AbstractChromosome analysis was performed on a 3‐year‐old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism. © 1995 Wiley‐Liss, Inc.
Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q)
Authors: Stallard R. , Kruegor S. , James R. S. , Schwartz S. 
Published: June 2005

AbstractChromosomes from a normal 23‐year‐old, primigravid woman were examined at 10 weeks of gestation because of her mother's history: 8 miscarriages and two liveborn infants (the proposita and a brother who died at 3 days with multiple anomalies). Karyotypes of the proposita and her normal mother were 45,XX, t(13q13q). No evidence of mosaicism was encountered. When the proposita inherited the t(13q13q), she received two copies of 13q from her mother. Moreover, she and her mother shared the same homozygous pattern of alleles from 7 highly polymorphic microsatellite repeats localized along 13q. No evidence of paternal markers from 13 was detected, although biparental inheritance was demonstrated with DNA markers from chromosomes 2 and 17. Cytogenetic and molecular findings indicated that the proposita's chromosomal complement included mUPD 13q. The proposita's normal phenotype suggested that no maternally imprinted genes map to 13q. © 1995 Wiley‐Liss, Inc.
Outcome of Sturge‐Weber syndrome in 52 adults
Authors: Sujansky Eva , Conradi Susan 
Published: June 2005

AbstractSturge‐Weber syndrome (SWS) is a neuro‐cutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with seizures and other neurologic complications including mental retardation, and glaucoma. Only limited information about long‐term outcome, including the societal integration of adult patients, is available in the literature.Data on 52 adults with SWS, ages 18‐63 years, ascertained through the Sturge‐Weber Foundation, were obtained via written questionnaires, telephone interviews, and reviews of medical records. The distribution of port‐wine stains (cranial 98%, extracranial 52%) and the prevalences of glaucoma (60%), seizures (83%), neurologic deficit (65%), and other complications were established. The age of onset of glaucoma (0‐41 years), the age of onset of seizures (0‐23 years), and the correlation between the distribution of port‐wine stains and the prevalence of seizures was identified. The relationship between the age of onset of seizures and seizure control was established. In those with and without seizures, the prevalences of developmental delay (43% vs. 0%), emotional and behavior problems (85% vs. 58%), special education requirements (71% vs. 0%), and employability (46% vs. 78%) were analyzed. Overall, 39% were financially self‐sufficient, and 55% were or could be married. Ten participants produced 20 liveborn offspring; 17 were healthy, and tuberous sclerosis, a café‐au‐lait spot, and a “birthmark” were found in 1 child each. The results of this study can be used for genetic counseling in Sturge‐Weber syndrome. Adults, emotional problems, behavior problems, offspring, education, employment, genetic counseling © 1995 Wiley‐Liss, Inc.
Monosomy 9p24→pter and trisomy 5q31→qter: Case report and review of two cases
Authors: Schimmenti Lisa A. , Higgins Rodney R. , Mendelsohn Nancy J. , Casey Timothy M. , Steinberger Julia , Mammel Mark C. , Wiesner Georgia L. 
Published: June 2005

AbstractPartial deletion of the short arm of chromosome 9 (p24→pter) and partial duplication of the long arm of chromosome 5 (q32→qter) were observed in an abnormal boy who died at age 8 weeks of a complex cyanotic cardiac defect. He also had minor anomalies, sagittal craniosynostosis, triphalangeal thumbs, hypospadias, and a bifid scrotum. Two other infants with similar cytogenetic abnormalities were described previously. These patients had severe congenital heart defect, genitourinary anomalies, broad nasal bridge, low hairline, apparently low‐set ears, short neck, and triphalangeal thumbs, in common with our patient. We suggest that combined monosomy 9p23,24→pter and trisomy 5q31,32→qter may constitute a clinically recognizable syndrome. © 1995 Wiley‐Liss, Inc.
Autosomal dominant inheritance in setleis syndrome
Authors: Masuno Mitsuo , Imaizumi Kiyoshi , Makita Yoshio , Nakamura Mihoko , Kuroki Yoshikazu 
Published: June 2005

AbstractSetleis syndrome is characterized by bitemporal skin depressions resembling forceps marks, abnormalities of the eyelashes, and “leonine” facial appearance. The cause is unknown, although autosomal recessive inheritance has been proposed. Recently, two families were reported in which one of the parents of a patient with Setleis syndrome showed mild manifestations, suggesting autosomal dominant inheritance. We describe a 9‐month‐old Japanese boy with typical Setleis syndrome. His father, who has normal intelligence, has bitemporal focal dermal dysplasia but a normal face. His paternal second cousin also has Setleis syndrome. This family shows autosomal dominant inheritance including father‐to‐son transmission of Setleis syndrome with variable expressivity and reduced penetrance. Careful examination of the relatives of patients with Setleis syndrome is recommended. © 1995 Wiley‐Liss, Inc.
Neoplasms in proteus syndrome
Authors: Gordon Patricia L. , Wilroy R. Sid , Lasater Olga E. , Michael M. Cohen 
Published: June 2005

AbstractWe report on 2 children with Proteus syndrome who developed neoplasms. Patient 1 had a probable mesothelioma, although papillary carcinoma of the thyroid could not be completely ruled out. Patient 2 had bilateral ovarian serous cystadenomas with nuclear atypia. Other unusual neoplasms in Proteus syndrome are discussed, together with their etiologic and pathogenetic possibilities. © 1995 Wiley‐Liss, Inc.
Translocation 10;18 in a patient with juvenile neuronal ceroid‐lipofuscinosis (Batten disease)
Authors: Tuck‐Muller Cathy M. , Dyken Paul R. , Li Shibo , Chen Harold , Labbé Elise , Wertelecki Wladimir 
Published: June 2005

AbstractWe report the first observation of a chromosome abnormality in a patient with typical juvenile ceroid‐lipofuscinosis (NCL), who was found to have an apparently balanced translocation between chromosomes 10 and 18 [t(10;18)(q22.1;q21.1)]. Since juvenile NCL was previously mapped to 16p12, this report raises the possibility of heterogeneity in this form of NCL. © 1995 Wiley‐Liss, Inc.
Pathogenesis of brain dysfunction in Batten disease
Authors: Walkley Steven U. , March Philip A. , Schroeder Charles E. , Wurzelmann Sarah , Jolly Robert D. 
Published: June 2005

AbstractAnimal models of Batten disease and other neuronal storage disorders offer important opportunities to study the pathogenesis of brain dysfunction in this family of diseases. Although all of these conditions exhibit progressive intraneuronal storage, we have found that other aspects of the cellular pathology of Batten disease differ markedly from those of storage disorders caused by lysosomal hydrolase deficiencies. Likewise, atrophy of cerebral cortex and other select brain regions, a prominent characteristic of Batten disease, does not occur in most other storage disorders. Our studies indicate that Batten disease has findings in common with human neurodegenerative diseases and that neuron death may be caused by excitotoxicity occurring secondary to the combined effects of suboptimal mitochondrial function and GABAergic (inhibitory) cell loss. © 1995 Wiley‐Liss, Inc.
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease
Authors: March Philip A. , Wurzelmann Sarah , Walkley Steven U. 
Published: June 2005

AbstractThe pathogenesis of brain dysfunction in a canine model of juvenile Batten disease was studied with techniques designed to determine sequential changes in mitochondrial morphology and cytochrome oxidase (CO) activity, and in neurons and synapses using gamma‐aminobutyric acid (GABA) as a neurotransmitter. Histochemical and immunocytochemical methods were employed. Mitochondrial alterations were found in a select population of nonpyramidal neurons in neocortex and claustrum, and in cerebellar basket cells. Proportions of affected neurons at any one time remained constant over the disease course, with morphologically‐abnormal mitochondria first being recognized at age 6 months. Enlarged mitochondria were readily identifiable at the light microscope (LM) level as large CO‐positive or mitochondrial antibody‐positive granular structures. Colabelling with antibodies to GABA or to parvalbumin (PV) indicated that most of these cells were GABAergic. Ultrastructurally, atypical mitochondria were characterized by globular enlargement, intramitochondrial membranous inclusions, and disorganized internal structure. CO activity in all other cell somata and in neuropil was diminished compared with normal, age‐matched tissue. Glutamic acid decarboxylase (GAD), PV, and GABA studies demonstrated loss of GABAergic neurons and synapses in cortex and cerebellum of affected dogs. These results indicate that abnormal mitochondria are present in neurons in Batten disease, and suggest that suboptimal mitochondrial function may play a role in the pathogenic mechanisms of brain dysfunction in this disorder. © 1995 Wiley‐Liss, Inc.
Free radicals, anticonvulsants, and the neuronal ceroid‐lipofuscinoses
Authors: Maertens Paul , Dyken Paul , Graf William , Pippenger Charles , Chronister Robert , Shah Arvind 
Published: June 2005

AbstractThe relationship between free radicals and scavenger enzymes, and the disorders called the neuronal ceroid‐lipofuscinoses, has long been an argumentative one. Recent evidence would seem to support the fact that such a relationship might exist but that it is indirect. The relationship does not seem due to an inborn error of free radical scavenger enzyme metabolism. Anticonvulsants play a role, as they influence free radical generating systems. At this juncture, no one has studied the relationship of anticonvulsant therapy, neuronal ceroid‐lipofuscinosis, and the free radical‐scavenging enzyme system, and their interplay.We have studied a large number of patients with epilepsy who are on either monotherapeutic or polytherapeutic regimens of most of the common anticonvulsants. We have found excessive free radical production in many of these patients, ranging from minor effects in the simpler anticonvulsants when used monotherapeutically, to more complex changes in polytherapeutic combinations. Likewise, we have found subtle and inconsistent findings in the free radical‐scavenging enzyme system in a variety of examples of neuronal ceroid‐lipofuscinosis.When refractory seizure disorders stimulate the vigorous use of polytherapy with a variety of free radical‐facilitating anticonvulsants, free radical production becomes deleterious. Likewise, in certain types of neuronal ceroid‐lipofuscinosis, polypharmacy with anticonvulsants, by enhancing the production of free radicals or suppressing scavenging enzymes, tends to be deleterious and induces a worsening in the disease process. © 1995 Wiley‐Liss, Inc.
Biosynthesis and metabolism of 4‐hydroxynonenal in canine ceroid‐lipofuscinosis
Authors: Siakotos Aristotle N. , Schnippel Kathryn , Lin Renee C. , Van Kuijk Frederick J. G. M. 
Published: June 2005

AbstractCanine ceroid‐lipofuscinosis (CCL) is a model of the juvenile type of Batten disease in human patients. Abnormalities have been reported previously in 4‐hydroxynonenal (HNE) levels in English setters with CCL. The purpose of this study was to examine the sources of HNE in neutrophil membranes and plasma of CCL dogs. The fatty acid composition of neutrophil phospholipids, i.e., phosphatidyl ethanolamine and phosphatidyl serine, was determined by gasliquid‐chromatography (GLC) since some polyunsaturated fatty acids (PUFA) are precursors of HNE. The copper catalyzed peroxidation of low density lipoprotein (LDL) was examined to determine the susceptibility of LDL from CCL dogs to peroxidation. The results indicated that a number of PUFA precursors of HNE decreased in affected and carrier neutrophil phospholipids, indicating that this source of HNE may be disease specific. The Cu++ catalyzed formation of HNE from LDL demonstrated that carrier and normal LDL produced large amounts of HNE, while LDL from affected dogs required much higher concentrations of Cu++ for maximal HNE production. These results provide additional support for the role of HNE in the pathogenetic events in NCL and support the view that lipid peroxidation may be an important contributor to the complex pathogenesis of the NCL. © 1995 Wiley‐Liss, Inc.
Palmitate oxidation in muscle mitochondria of patients with the juvenile form of neuronal ceroid‐lipofuscinosis
Authors: Majander Anna , Pihko Helena , Santavuori Pirkko 
Published: June 2005

AbstractThe finding that the intracellular storage material in juvenile neuronal ceroid lipofuscinosis (JNCL) consists of the subunit c of ATP synthase prompted us to study energy conservation in JNCL patients. The activities of respiratory chain enzymes in isolated muscle mitochondria from 8 JNCL cases were normal, but oxidation of palmitate was reduced in 6 patients. The degree of reduction was related to the age of the patients. None of the patients had clinical symptoms or laboratory findings of impaired energy conservation, which suggest that the reduced palmitate oxidation was not associated with a major defect in fatty acid oxidation. © 1995 Wiley‐Liss, Inc.
Comparative biology of the neuronal ceroid‐lipofuscinoses (NCL): An overview
Authors: Jolly R. D. 
Published: June 2005

AbstractMultiple forms of ceroid‐lipofuscinosis occur in human beings and animals. They are characterized by brain and retinal atrophy associated with selective necrosis of neurons. This neurodegenerative disease appears associated with the disease process rather than storage of fluorescent lipopigment per se, and there is now growing evidence that pathogenesis may involve mitochondria rather than a primary defect of lysosomal catabolism. Of the forms of ceroid‐lipofuscinosis studied, most but not all reflect accumulation of subunit c of mitochondrial ATP synthase. If there is a common denominator between all forms other than the presence of fluorescent lipopigment, then it may be the accumulation of hydrophobic protein. Analogous diseases in animals can be expected to reflect the same spectrum of biochemical changes, and they warrant in‐deptb study to help understand the pathogenesis and heterogeneity of the group. © 1995 Wiley‐Liss, Inc.
Isolation of genes from the Batten candidate region using exon amplification
Authors: Lerner T. J. , D'Arigo K. L. , Haines J. L. , Doggett N. A. , Taschner P. E. M. , de Vos N. , Buckler A. J. 
Published: June 2005

AbstractIn order to identify genes originating from the Batten disease candidate region, we have used the technique of exon amplification to identify transcribed sequences. This procedure produces trapped exon clones, which can represent single exons or multiple exons spliced together and is an efficient method for obtaining probes for physical mapping and for screening cDNA libraries. The source of DNA for these experiments was a collection of chromosome 16 cosmid contigs isolated by the direct subcloning of region‐specific yeast artificial chromosomes (YACs) and hybridization of inter‐alu PCR products from these YACs to the flow‐sorted Los Alamos chromosome 16 cosmid library. We are now using the resulting exon probes to screen retina and brain cDNA libraries for candidate JNCL genes. © 1995 Wiley‐Liss, Inc.
Role of subunit‐9 of mitochondrial ATP synthase in Batten disease
Authors: Johnson David W. , Speier Susanne , Qian Wei‐Hua , Lane Steven , Cook Alyson , Suzuki Kinuko , Daniel Peter , Boustany Rose‐Mary 
Published: June 2005

AbstractThe role of subunit‐9 of mitochondrial ATP synthase in Batten disease was defined by characterizing the expression of genes encoding this protein in human tissues. Two genetically distinct neuronal ceroid‐lipofuscinoses (NCL) comprise Batten disease: the late‐infantile (LINCL) and juvenile (JNCL) types. We tested cell lines and tissues from both types of patients, along with normal controls. Differences in expression between diseased and normal samples were found for both mRNA and protein. Antibody staining of subunit‐9 protein was detected in LINCL and JNCL tissues, and in 6 LINCL and 4 of 5 JNCL fibroblast lines. No immunoreactivity was seen in fibroblasts from obligate carriers, normal controls, and 6 other storage disease controls, with the exception of faint staining in Niemann‐Pick, type C cells. There was an appreciable difference in staining pattern in both tissue sections and fibroblasts between LINCL and JNCL. Three subunit‐9 transcripts (Hum1, Hum2, and Hum3) were specifically detected in NCL and normal human tissue from heart, liver, brain, muscle, and pancreas. Transcriptional regulation of subunit‐9 genes was found to be altered in Batten disease. Pseudogenes related to each of the subunit‐9 genes were isolated. Sequence analysis of cDNAs spanning the protein‐coding regions of the Hum1, Hum2, and Hum3 genes showed conclusively that the primary defect(s) causing NCL are not mutations in the protein‐coding regions of the 3 known subunit‐9 genes. © 1995 Wiley‐Liss, Inc.
Genetics of primary and timing effects in the mnd mouse
Authors: Messer A. , Plummer J. , MacMillen M. C. , Frankel W. N. 
Published: June 2005

AbstractThe mnd mouse shows a spontaneous adultonset hereditary neurological disease, with motor abnormality by 6 months of age, progressing to severe spastic paralysis and premature death. The disease is autosomal recessive, with heterozygote effects seen under stress. It maps to mouse chromosome (chr) 8. Histopathology with Nissl stains documents substantial abnormalities of upper and lower motor neurons, and there is retinal degeneration beginning in the first month, even without light exposure. Increasing levels of autofluorescent lipopigment are found in both neuronal and non‐neuronal tissues as the mnd mice age. Recently, NCL‐like inclusions and accumulating subunit c have also been described.When mnd is outcrossed to the AKR/J genetic background, ca. 40% of the mnd/mnd F2 progeny show early onset (onset by 4.5‐5 months and death by 7 months.) This accelerated timing effect seems to be strainspecific, and unlinked to the mnd gene itself. Our current working hypothesis is that the timing effect is due to 2 or 3 unlinked dominant genes with incomplete penetrance at any single locus. In a combined RFLP/PCR fragment genetic analysis, the strongest deviation from the expected ratio of AKR vs B6 alleles occurs with markers on proximal half of chr 1. Additional loci on chrs 5 and 10 may also be involved. The mechanism of interaction of these modifying genes with the primary mnd gene may offer new therapeutic avenues. © 1995 Wiley‐Liss, Inc.
Hematopoietic cell transplantation in fetal lambs with ceroid‐lipofuscinosis
Authors: Westlake Valerie J. , Jolly Robert D. , Jones Boyd R. , Mellor David J. , Machon Roslyn , Zanjani Esmail D. , Krivit William 
Published: June 2005

AbstractHematopoietic cells from the liver of normal 45‐48‐day‐old fetal lambs (Hb type AA) were transplanted intraperitoneally into 58‐60‐day‐old recipient fetuses (Hb type BB). The recipient fetuses resulted from mating homozygous ceroid‐lipofuscinosis affected males with heterozygous, phenotypically normal, females. The sex of the donor fetus was also recorded. At age 21/2 months the recipient lambs with ceroid‐lipofuscinosis were diagnosed by histopathology of brain biopsies. Monitoring of blood and bone marrow cells showed that an average of 9% of blood cells in ceroid‐lipofuscinosis affected recipients were of donor origin. No differences were evident in the clinical course of disease, brain weight, or histopathology of organs between transplanted and non‐trans‐planted lambs with ceroid‐lipofuscinosis. Under the conditions of this experiment, transplantation of fetal hematopoietic cells was not beneficial. © 1995 Wiley‐Liss, Inc.
Femoral‐facial syndrome–prenatal diagnosis–autosomal dominant inheritance
Authors: Robinow Meinhard , Sonek Jiri , Buttino Louis , Veghte Anne 
Published: June 2005

AbstractFetal micrognathia and short, bowed femora were found on a routine prenatal ultrasonogram. At birth, a cleft palate and the characteristic facial appearance confirmed the diagnosis of the femoral‐facial syndrome. (The femoral‐facial syndrome [McKusick 137840] was first delineated by Daentl et al. [1975: J Pediatr 86:197–211 ] and called the “femoral hypoplasia‐unusual fa‐cies syndrome.” We prefer the “femoral‐facial syndrome” because it is shorter, more easily translated, and because the McKusick catalog is the most widely recognized standard of nomenclature.) A paternal great uncle, deceased at age 4 years, seems to have had the same condition. © 1995 Wiley‐Liss, Inc.
Two sisters with Escobar syndrome
Authors: Spranger Stephanie , Spranger Matthias , Meinck Hans‐Michael , Tariverdian Gholamali 
Published: June 2005

AbstractWe report on 2 sisters with an autosomal‐recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neu‐romuscular disorder is the underlying pathogenesis of Escobar syndrome. © 1995 Wiley‐Liss, Inc.
Heritability and heteromorphic distributions of AluI chromosome banding variants in twins
Authors: Huang Bing , Meyer Joanne M. , Jackson‐Cook Colleen K. 
Published: June 2005

AbstractThe heritability and heteromorphic appearance of chromosomal banding patterns induced through in situ digestion with the restriction enzyme Alul were studied by analyzing the chromosomes of 25 monozygotic and 25 dizygotic twin pairs selected at random from a juvenile twin registry. A total of 19 Alul banding variants were found to be heteromorphic, with the pericentromeric region of chromosome 3 and the satellites of chromosome 22 being most and least heteromorphic, respectively. As expected, the correlations of the semi‐quantitative scores for each of the chromosomal variants were significantly higher between MZ twin pairs (ranging from 0.48 to 0.95) than DZ twin pairs (ranging from ‐ 0.02 to 0.69), suggesting that genetic factors play an important role in their appearance. This finding was confirmed in a model fitting analysis in which the heritabilities of the Alul‐induced chromosome variants were found to range from 70 to 96% for 12/13 heteromorphisms studied. These consistent findings are significant in that these variants may be useful for family studies in clinical genetics. © 1995 Wiley‐Liss, Inc.