bluuebunny/crossref_metadata_2025_split huggingface dataset:
A molecular approach to genetic counseling in the X‐linked muscular dystrophies
Authors: Harper P. S. , Thomas N. S. T. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractNew molecular developments in our understanding of Duchenne and Becker muscular dystrophies are affecting the practical approach to genetic counseling, carrier detection, and prenatal prediction for these disorders. A plan of an investigation combining DNA and conventional techniques is outlined that is suitable for centers not actively engaged in molecular genetics research, based on the detection of molecular deletions, the most efficient use of multiple DNA polymorphisms, and the integration of this data with creatine kinase and pedigree information. Such an approach now allows accurate carrier detection for most women at risk as well as an acceptable degree of accuracy in prenatal detection for a proportion of carrier women.
Sudden death in childhood in a case of the G syndrome
Authors: Einfeld Stewart L. , Fairley Michael J. , Green Betty F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on the unexpected death at almost 8 years of a boy with the G syndrome who had successfully survived many prior life‐threatening complications of the condition. The patient had a characteristic facial appearance, hypertelorism, second‐degree hypospadias, stridor and cough on feeding with aspiration of barium, and uncoordi‐nated esophageal swallowing mechanism, but no obvious laryngotracheobranchial defect on endoscopy (or coroner's autopsy). He had had a prior cardiac arrest and had outgrown need for a tracheostomy. Aspiration is presumed to be the cause of death.
Diagnosing human malformation patterns with a microcomputer: Evaluation of two different algorithms
Authors: Schorderet Daniel F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSYNDROC, a microcomputer‐aided differential diagnostic approach to human malformation patterns, is based on a pseudo‐Bayesian algorithm. This means that, for each sign, the frequency of this sign in the general population, its frequency in a particular syndrome, and the frequency of that particular syndrome have to be determined. These parameters are easy to find in common syndromes but tend to be difficult for rare or isolated cases. Thus, we implemented a new algorithm called the “descriptive algorithm,” which defines a diagnosis by a set of anomalies all having the same weight. To test this algorithm, we analyzed 100 cases representing 100 different syndromes out of the register of the Division of Medical Genetics, Children's Hospital and Medical Center, University of Washington. The descriptive algorithm was allowed to give 3 sets of diagnoses. In 91% of the cases, this algorithm proposed the correct diagnosis (54% in the first window, 28% in the second window, and 9% in the third window). The number of diagnoses proposed was 18.78 ± 16.57. The same cases were analyzed with the pseudo‐Bayesian algorithm. The concordant diagnosis was proposed in 92% of the cases (55% at the top place, 11% at the second place, and 26% at the third place or beyond). The number of diagnoses submitted was 13.5 ± 11.04. The combined algorithm gave the correct diagnosis in 96% of the cases. This study shows that the descriptive algorithm is as accurate as the pseudo‐Bayesian algorithm in diagnosing malformation patterns, but this level is accompanied by an increased number of proposed diagnoses.
Familial occurrence of esophageal atresia with and without tracheoesophagel fistula:Report of two unusual kindreds
Authors: Pletcher Beth A. , Friedes Jonathan S. , Breg W. Roy , Touloukian Robert J. 
Published: June 2005

AbstractWe describe 2 unique kindreds with familial occurrence of esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) and reviewed the literature on familial EA+/‐TEF. EA+/‐TEF appears to be causally heterogeneous with evidence pointing to the existence of non‐genetic developmental and multifactorial forms. The literature suggests that the parents of a single affected child should be given an empiric recurrent risk between ½ and 2%, rising to 20% if more than one sib is affected. The empiric risk of an affected child born to an affected parent is 3–4%.Empiric risk figures are useful in counseling families at the present time; however, the 2 kindreds presented here raise the possibility of autosomal dominant transmission in certain families. A third generation of affected offspring, or additional family reports should help to clarify this issue in the future.
Phenotypic and phoniatric findings in mosaic cri du chat syndrome
Authors: Romano Corrado , Ragusa Rosa Maria , Scillato Franco , Greco Donatella , Amato Giuseppe , Barletta Cosimo 
Published: June 2005

AbstractWe report on mosaic 46, XY/46, XY, del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.
PI polymorphism in Israel: Report on six Jewish population groups
Authors: Nevo S. , Cleve H. 
Published: June 2005

AbstractA total of 1148 Israeli Jews was typed for PI and divided by areas of origin in to six groups:Eastern Europe (n = 236), Central Europe (n = 156), Rumania (n = 158), Bulgaria (n = 215), North Africa (n = 229), and Middle East (n = 154). Frequencies of PI*M1 (0.74–0.77) in Jews of European countries were higher than 0.68 in Jews of N. Africa and 0.62 in Jews of the Middle East. PI*M2 frequencies were correspondingly lower in European Jews:0.11–0.14 vs 0.19 and 0.20 in non‐European Jews. PI*M3 frequency range was 0.07–0.11 in European Jews and was highest in Middle Eastern Jews (0.17). PI*Z was found in one MZ individual. PI*S was low (<0.01) except in Sephardi Jews of Bulgaria and N. Africa (0.016 and 0.015). A rare variant, PI* Elemberg, was observed in five individuals from different countries of origin. The present results are in accord with those of a previous study on some Israeli Jewish groups and on some other Middle Eastern groups.
Prenatal sonographic diagnosis of severe nonimmune hydrops in a Down syndrome fetus at 16 weeks of gestation
Authors: Sherer David M. , Miller Karen S. , Woods James R. 
Published: June 2005

AbstractWe have studied a fetus with the prenatal sonographic diagnosis of severe nonimmune hydrops fetalis at 16 weeks of gestration, who was later shown by amniocentesis to have Down syndrome.
Sex identification by polymerase chain reaction using X‐Y homologous primer
Authors: Nakahori Yutaka , Hamano Koichi , Iwaya Makoto , Nakagome Yasuo 
Published: June 2005

AbstractA method of sex identification using the polymerase chain reaction technique is described. Using a pair of nucleotide primers from an X‐Y homologous region, both the X and the Y sequences can be amplified simultaneously, and more importantly, they result in fragments of different lengths. The success of the procedure is therefore monitored by the presence of a X‐specific band while sex is identified by the presence or absence of a Y‐specific band.
Angular homeostasis VII: Non‐monotonic correction systems
Authors: Murphy Edmond A. , Berger Kenneth R. 
Published: June 2005

AbstractWe extend our model of angular homeostasis to correction functions that have a single maximum at a discrepant angle less than π radians. We find that there are stable, and asymptotically stable, solutions that in general consist of self‐intersecting curves. We investigate conditions for these curves to be periodic, and describe their symmetries. One typical pattern of such a closed curve involves a finite number of loops, each having a reflection axis of symmetry, with the complete curve having a cyclic rotation group. These bear a close resemblance to patterns found in lobulated biological structures (such as the petals of a flower or the primitive fetal hand). We further discuss implications for morphogenesis.
Galactose metabolism and reproductive history in women with type 1 neurofibromatosis
Authors: Cramer Daniel W. , Korf Bruce R. , Fortier Leslie J. 
Published: June 2005

AbstractTo explore a possible relationship between neurofibromatosis and abnormalities of galactose metabolism, we examined the activity and characteristics of red cell galactokinase and galactose‐1‐phosphate uridyl transferase in 14 white women with type 1 neurofibromatosis and in 28 control women. Women with NF1 had a significantly lower activity of galactokinase and were more likely to have the 3‐band pattern on electrophoresis of their transferase enzyme known as the Duarte variant. In addition, we found that women with NF1 were more likely to have reproductive histories suggestive of hypogonadism, including irregular menses, infertility, ovarian cysts, and early menopause. We conclude that abnormalities of galactose metabolism may be linked to abnormalities of both germ cell and neural crest development.
Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia
Authors: Villarreal Teresa , Carnevale Alessandra , Mayén Dora Gilda , Takenaga Raúl , del Castillo Victoria 
Published: June 2005

AbstractWe report on a form of multiple epiphyseal dysplasia with striking acromelic shortness in a woman and five of her ten children. The somatometric and metacarpo‐phalangeal pattern profile of the affected individual showed short limb dwarfism and shortness of all the tubular bones of the hand. Epiphyseal irregularities and shortness of the 4th metatarsal bones were outstanding. The disorder showed a dominant and probably autosomal pattern of inheritance with variability of expression.The measurement of metacarpo‐phalangeal profiles allowed an objective and quantitative assessment of brachydactyly. In the family reported here, there was a clear discrepancy between the severity of shortness of hands and feet and the severity of shortness of stature. This family also illustrates the effects of a single gene in a large kindred, therefore describing the range and variability of a phenotype not otherwise available.
Nonrandom association of atrioventricular canal and del (8p) syndrome
Authors: Marino Bruno , Reale Antonino , Giannotti Aldo , Digilio Maria Cristina , Dallapiccola Bruno 
Published: June 2005

AbstractWe describe a patient with partial deletion of the short arm of chromosome 8 with an atrio‐ventricular canal. This type of congenital heart defect was found in 4 of the 7 previously reported del (8p) children with e congenital heart defect in which the cardiac assessment was complete. The prevalence of an atrioven‐tricular canal in this aneuploidy is high and suggests a nonrandom association of the 2 anomalies.
Constrictive amniotic bands, amniotic adhesions, and limb‐body wall complex: Discrete disruption sequences with pathogenetic overlap
Authors: Moerman Philippe , Fryns Jean‐Pierre , Vandenberghe Kamiel , Lauweryns Joseph M. 
Published: June 2005

AbstractIn a fetopathologic evaluation of 18 cases with amniotic bands, we discerned 3 types of lesions: (1) constrictive tissue bands, (2) amniotic adhesions, and (3) more complex anomaly patterns, designated as limb‐body wall complex (LBWC). Constrictive bands are caused by primary amnion rupture with subsequent entanglement of fetal parts (mostly limbs) by shriveled amniotic strands. Adhesive bands are the result of a broad fusion between disrupted fetal parts (mostly cephalic) and an intact amniotic membrane. Most of the craniofacial defects (encephaloceles and/or facial clefts) occurring in these fetuses are not caused by constrictive amniotic bands, but are the result of a vascular disruption sequence with or without cephalo‐amniotic adhesion. Our observations confirm the fact that amnion rupture is not aconditio sine qua nonfor the development of LBWC. However, LBWC is often complicated by rupture of the unsupported amnion with ensuing formation of constrictive bands. We think that the concept that considers the 3 lesions in question as a single pathogenetic entity is erroneous and will inevitably lead to a never‐ending debate between followers of the 2 prevailing theories. In our view, the theories of Streeter and Torpin are not mutually exclusive but rather apply to different types of lesions. The recognition of constrictive amniotic bands, amniotic adhesions, and LBWC as discrete but often combined disruption sequences with important pathogenetic overlap may resolve many dilemmas in interpretation when a fetus exhibits classical constrictive bands beside more severe defects.
Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk
Authors: Bloch Maurice , Adam Shelin , Wiggins Sandy , Huggins Marlene , Hayden Michael R. 
Published: June 2005

AbstractPredictive testing for Huntington disease (HD) has been offered in some parts of Canada for nearly 5 years. Candidates who were expected to have a significant likelihood for psychological problems were those who received an increased risk for developing HD. Sixty‐six persons have now received such an increased risk result. In this manuscript we describe in detail the experiences of 4 such persons who were chosen to illustrate recurrent and common themes which have emerged during counselling, and to highlight the strategies of coping with this information. Themes include difficulties communicating about HD, defensive postures adopted in preparing for testing, ramifications of testing for the whole family, and the impact of being at high risk on the candidates' perception of the future. One candidate has had testing postponed due to active suicidal risk. Only a few candidates have expressed regret at taking the test and no person receiving an increased risk result has made a suicide attempt or required hospitalization. After receiving results, symptoms of depression and anxiety are most common in the first 2 months, but over 1 year, candidates, in general, have less depression but live with a heightened perception of the present. The potential risk of premature diagnosis of HD in an individual with an increased risk result is highlighted. The significant ramifications of testing for the relatives are shown. The importance of communication as a means of establishing a social support network, as well as the hazards of open communication, are discussed. Longitudinal evaluation will provide much needed data on the long‐term effects of living at increased risk for HD.
Incidence of neuronal ceroid‐lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders
Authors: Claussen Matthias , Heim Peter , Knispel Jarold , Goebel Hans H. , Kohlschütter Alfried 
Published: June 2005

AbstractThe incidence of neuronal ceroid‐lipofuscinoses (NCL) in West Germany was determined using a novel method which is applicable to other autosomal recessively inherited diseases. Questionnaires were sent to all pediatric departments (answer rate 189/276, 68%), schools for the blind (39/46, 85%), and neuropathological institutes (15/22,68%). Diagnoses were accepted only when based on firm clinical and/or electron microscopic criteria; 207 such identified patients were sorted according to year of birth. Plotting the cumulative number of new cases per year against the year of birth resulted in a slightly S‐shaped curve. Before the year 1962, the curve is relatively flat, probably due to inefficient case registration. Between 1968 and 1977, the slope of the curve is constant–a steep, nearly straight line. Thereafter the curve flattens out again, likely due to inefficient registration of young, still undiagnosed patients. We interpret the central segment of the curve, which is continuously straight over a period of 10 years and corresponds to 92 patients, as a period in which efficient registration of new cases occurred. The number of live births being 7,211,543 during the same period, the NCL incidence is calculated to be 1.28 per 100,000 live births (0.71 for juvenile NCL and 0.46 for late infantile NCL).
Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis
Authors: Gardiner R. M. 
Published: June 2005

AbstractThe ceroid‐lipofuscinoses are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent lipopigment in neurones and other cell types. The underlying biochemical defect is unknown. Juvenile onset neuronal ceroidlipofuscinosis (Batten disease; Spielmeyer‐Vogt disease) is an autosomal recessive trait. Linkage studies were undertaken to determine the location of the Batten disease (CLN3) mutation. Studies were carried out on 205 members of 42 families in which there were 76 affected individuals. Families originated from 7 North European countries and Canada.Serum samples from 23 families, including a total of 48 affected children, were tested for a set of “classical markers.” A positive lod score was found with the haptoglobin (Hp) system. The combined male and female maximum lod score was 3.00 at θ = 0.00 and θ = 0.26, respectively. This provided an indication of localisation to the long arm of chromosome 16.Linkage analysis was then carried out in 42 families using DNA markers for loci on human chromosome 16. The maximal lod score between Batten disease and the locus D16S148 calculated for combined sexes was 6.05. No recombinants were observed. Multilocus analysis using 5 loci indicated the most likely order to be HP–D16S151–D16S150–CLN3–D16S148–D16S147.Work is in progress to refine the genetic and physical localisation of the Batten disease gene using additional markers in this region and a panel of somatic cell hybrids. Methods are now available which should allow the gene to be isolated and characterised.
Linkage analysis in juvenile neuronal ceroid lipofuscinosis
Authors: Haines Jonathan L. , Yan Wei‐Lang , Boustany Rose‐Mary , Jewell Ann , Julier Cecile , Breakefield Xandra O. , Gusella James F. 
Published: June 2005

AbstractNeuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age‐at‐onset and histological characteristics; the most common is the juvenile (JNCL) form. Recently, the gene for JNCL was shown to reside on chromosome 16 through linkage studies to the haptoglobin locus and anonymous DNA markers using numerous European families. We have now examined 8 families from North America with JNCL for linkage to markers in 16q21–23. Results in 3 families tend to support linkage to chromosome 16; 3 families remained uninformative, and 2 families produced negative lod scores in this region. A test of homogeneity was suggestive, but could not significantly reject the null hypothesis of homogeneity. We are continuing to collect families, particularly those with multiple living affecteds, and are identifying other probes in this region. Given close localization on chromosome 16 for JNCL, molecular strategies, including candidate gene strategies, are being explored.
Biochemical studies on the juvenile form of ceroid‐lipofuscinosis
Authors: Pullarkat Raju K. , Morris George N. , Pullarkat Premila S. , Labadie Gundula U. , Zawitosky Sandra E. 
Published: June 2005

AbstractAccumulation of oligosaccharyl diphosphodolichols (oligo‐PP‐Dol) in brains of patients with various forms of ceroid‐lipofuscinoses (CL) is one of the most reproducible biochemical changes known so far. The objective of this study is to understand the biochemical basis of this observation. The biosynthesis of oligo‐PP‐Dol was studied by the incorporation of labelled glucose from UDP [14C] glucose into oligo‐PP‐Dol in cultured skin fibroblasts, and showed no changes in the level of synthesis. The level of labelled glucose incorporated into glycoproteins was also unchanged, suggesting that there is no decrease in the oligosaccharide transfer to proteins in this disorder. Since the biosynthesis and utilization of oligo‐PP‐dol are unaffected, a defect in the catabolism may be the only possibility for the storage of this compound in CL. Since terminal mannose residues are present in the accumulating oligo‐PP‐Dol, mannosidase activities at pH 4.4 and 6.0 were determined in cultured skin fibroblasts. Both mannosidase activities were unchanged in skin fibroblasts of juvenile CL. Endo‐β‐N‐acetylglucosaminidase‐1 activities were determined in cultured skin fibroblasts using dansylated Man6GlcNAcGlcNAc‐Asn as substrate. In three patients, a drastic reduction in the level of the pH 4.5 enzyme was shown, while the neutral pH enzyme activity was unaffected. A deficiency of the endo‐β‐N‐acetylglucosaminidase‐1 will not only explain the accumulation of oligo‐PP‐Dol but also the known storage of high‐mannose glycoproteins.
Stored dolichyl pyrophosphoryl oligosaccharides in Batten disease
Authors: Hall Nicholas A. , Thomas‐Oates Jane E. , Dell Anne , Haltia Matti , Lake Brian D. , Patrick A. Desmond 
Published: June 2005

AbstractEach of the 3 childhood forms of Batten disease, juvenile (JB), late‐infantile (LIB), and infantile (IB), have abnormally high brain concentrations of dolichyl pyrophosphoryl oligosaccharides (Dol‐PP‐OS). In this study, the carbohydrate portions of Dol‐PP‐OS were analysed: in JB and LIB, they range in size from Man2GlcNAc2 to Glc3Man9GlcNAc2, predominant components being Man5–7GlcNAc2 and Glc3Man7GlcNAc2. In IB, they range from Man6–9GlcNAc2, no glucose containing oli‐gosacchsrides being identified. In Batten disease, the main subcellular location of Dol‐PP‐OS is within storage material, where it represents up to 7% of the dry weight. [3H]‐Mannose incorporation experiments with cultured fibroblasts show that synthesis of Dol‐PP‐OS in JB is normal. We infer that the glycosyla‐tion intermediate Glc3Man9GlcNAc2‐PP‐dol‐ichol is synthesised normally within the endo‐plasmic reticulum in Batten disease, but that catabolic derivatives accumulate within the lysosomes. It is unclear whether this process is central to the pathogenesis of the disease, though in IB a defect in the release of man‐nose residues from Dol‐PP‐OS is a distinct possibility.
English setter model and juvenile ceroid‐lipofuscinosis in man
Authors: Koppang Nils 
Published: June 2005

AbstractThe etiology of the juvenile type of the human ceroid‐lipofuscinosis (JCL) is unknown, in spite of the fact that the first report of this disease was given more than 160 years ago.The necessity of good animal models for scientific progress in chronic metabolic diseases in humans is obvious. The inbred strain of English setter with ceroid‐lipofuscinosis (CCL) seems to be a perfect model for human JCL. Dogs with CCL and organs for research purposes are available from Dr. Koppang's experimental kennel in Norway.
Sheep and other animals with ceroid‐lipofuscinoses: Their relevance to Batten disease
Authors: Jolly Robert D. , Martinus Ryan D. , Palmer David N. 
Published: June 2005

AbstractDistinct pathological and histopathological changes distinguish the ceroid‐lipofuscinoses from other storage diseases of humans and animals. These various disease entities likely reflect a variety of mutations of the same gene, or mutations of different genes associated with metabolism of the same or similar substrates. The disease in sheep most closely resembles the juvenile human disease. In it 50% of the lipopigment consists of subunit c of mitochondrial ATP synthase while the remaining constituents are considered normal for a lysosomal derived cytosome. The same subunit c has been shown to be also stored in affected English Setter, Border Collie, and Tibetan Terrier dogs, the Devon cow, and in the late infantile and juvenile human forms of disease but not in the infantile form. Thus it gives a chemical unity to at least some members of the group and allows a major conceptual change in regard to further directions of research.