bluuebunny/crossref_metadata_2025_split huggingface dataset:
The distribution of ancestral secondary cases in Parkinson's disease
Authors: Young William I. , Martin William E. , Anderson V. Elving 
Published: July 2010

Recent evidence suggests a genetic mode of transmission of Parkinson's disease. A multifactorial mechanism is likely, but autosomal dominance with reduced penetrance has not been excluded.The distribution of ancestral second‐degree relatives with Parkinson's disease was evaluated in 12 families. Affected relatives were bilaterally distributed more often than would be expected for autosomal dominance.The distribution of ancestral secondary cases suggests a multifactorial etiology for most cases of Parkinson's disease. The possibility of dominant gene inheritance in some families is not entirely ruled out.
Dermatoglyphics in Cri du Chat syndrome
Authors: Shiono Hiroshi , Kadowaki Jun‐Ichi , Kazama Hisashi 
Published: July 2010

The dermatoglyphics of 33 Japanese (20 females and 13 males) with Cri du Chat syndrome were compared with 544 male and 129 female controls. In these cases, 18 cases were described only with regard to simian crease and distal axial triradius.It was found that these patients showed high frequencies of certain characteristics such as whorl pattern, arch pattern, thenar pattern, bilateral simian creases and distally displaced axial triradii on both palms (t').
Prenatal diagnosis of Meckel syndrome: alpha‐feto protein and beta‐trace protein in amniotic fluid
Authors: Chemke Juan , Miskin Abraham , Rav‐Acha Zipora , Porath Avi , Sagiv Marinel , Katz Zvi 
Published: July 2010

Meckel syndrome was diagnosed prenatally by α‐feto protein and β‐trace protein determinations in amniotic fluid. No central nervous system anomalies were detected in the affected fetus, who presented with large polycystic kidneys and polydactyly. An excessive synthesis of these fetal proteins by the dysplastic kidneys is suggested, allowing for the possibility of prenatal diagnosis of polycystic kidneys in families at risk for this disease.The present family emphasizes the importance of amniocentesis in pregnancies at risk for Meckel syndrome, regardless of the presence of a defect in neural tube closure.
No evidence for a correlation between behaviour and the size of the Y chromosome
Authors: Brøgger Anton , Urdal Trygve , Larsen Finn Brasch , Lavik Nils Johan 
Published: July 2010

Y chromosome variation has been studied in three groups of Norwegian males: 35 boys from an adolescent psychiatric hospital; 45 men from a hospital for hard‐to‐manage or dangerous, psychotic men; and 26 boys from two ordinary school classes.Y chromosomes with 1, 2, and 3 brightly fluorescing bands were found in all three groups. One boy carried a Y with no bands. The mean values of the Yf/Yq ratio were not significantly different in the three groups (Yf is the length of the distal, brightly fluorescing part of Yq). Two cases of XY/XYY mosaicism were found among the psychotic men.The study shows that the human species is polymorphic with regard to the size of the Y chromosome, i. e. the number of fluorescent bands in the long arm. No phenotypical manifestation of this polymorphism, particuIarly as regards behaviour, was found.
Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism
Authors: Ying K. L. , And E. J. Ives , Stephenson O. D. 
Published: July 2010

A female patient with a gonodal mucinous cystadenoma on the right side and a gonado‐blastoma on the left was found to be a 45,X/46,X,dic (Yp) mosaic, This brings the total number of cases with dicentric Y chromosome reported to date to 23.Together with the available evidence, the information derived from this case supports the hypothesis that the gene on the long arm of the Y chromosome is responsible for the initiation of testicular differentiation, whereas that on the short arm is responsible for the maturation of the testes.
Interaction of isolated Lp(a) lipoprotein with calcium ions and glycosaminoglycans in vitro
Authors: Ericson C. , Dahlén G. , Berg K. 
Published: July 2010

The interaction between the lipoprotein carrying the Lp(a) antigen, i.e. the Lp(a) lipoprotein, and agarose gels substituted with glycosaminoglycans, as well as the precipitation of the Lp(a) lipoprotein by Ca++ were studied. Comparisons between Lp(a) lipoprotein and other serum lipoproteins were conducted.Very low density lipoprotein (VLDL) and low density lipoprotein (LDL) were bound to the tested glycosaminoglycans at a low ionic strength of sodium chloride, but no binding was found with the Lp(a) lipoprotein. However, Ca++ as a divalent buffer cation gave a precipitating Ca++‐Lp(a) lipoprotein complex even at a physiological Ca++ concentration. VLDL and LDL were not precipitated under these conditions. These findings may be of interest in relation to the previously reported higher frequency of the phenotype Lp(a+) in subjects with coronary heart disease.
Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring
Authors: Hansteen I. L. , Schirmer L. , Hestetun S. 
Published: July 2010

Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both trisomic for 12p(ter→12.1) and monosomic for 21p. Their mother (No. 5), the maternal grandmother (No. 7), aunt (No. 8), and a first‐cousin (No. 9) were balanced translocation carriers, 46 rcp (12;21) (p12.1;p11). Another cousin (No. 10) had Down syndrome: he had two normal 21 chromosomes in addition to both translocation chromosomes. A sister (No. 2), who died at the age of 1 year without being karyotyped, had several phenotypical features in common with her brothers.Our two cases of trisomy 12p (ter→12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low‐set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; “spade”‐shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics. An elevated serum lactate dehydrogenase (LDH) was measured in four cases.
Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia
Authors: Thomas George H. , Tipton Robert E. , Ch'ien Lawrence T. , Reynolds Linda W. , Miller Carol S. 
Published: July 2010

A 31‐year‐old male is described who has macular cherry‐red spots, increased deep tendon reflexes and myoclonus without dementia. An older brother died at age 33 of a disease with similar symptomatology.Homogenates of cultured fibroblasts from the patient exhibited 2.6, 8.1 and 12.4 % of normal mean sialidase (neuraminidase, N‐acetyl‐neuraminosyl glycohydrolase, EC 3.21.18) activity, respectively, against 2‐(3'methoxyphenyl)‐N‐acetyl‐α‐neuraminic acid, N‐acetyl‐neuramin‐lactose and fetuin. Activities of 14 other lysosomal enzymes were within the range of normal control fibroblasts.The sialidase activities in fibroblasts from the patient's parents and children were 30 to 67 % of normal. It is concluded that this is the first proven case of a new autosomal recessive disorder resulting in cherry‐red spots, myoclonus and a sialidase deficiency.
Familial occurrence of lumbar spondylolysis and spondylolisthesis
Authors: Haukipuro K. , Keränen N. , Koivisto E. , Lindholm R. , Norio R. , Punto L. 
Published: July 2010

In a Finnish kindred consisting of 192 descendants from two marriages of a male ancestor born in 1868, the lumbar spines of 105 of the 170 living members were X‐rayed. Spondylolysis was found in 22 individuals. In addition, six of them had spondylolisthesis, four had spina bifida occulta, and two had a transitional lumbar/sacral vertebra. Seven members of the kindred without spondylolysis had spina bifida occulta and 10 had transitional lumbar vertebrae.The pedigree is consistent with autosomal dominant inheritance and incomplete (about 75 %) penetrance for spondylolysis. It raises the question of a common aetiology for several congenital disturbances in the formation of lumbar vertebrae and possibly supports the concept of a variable expressivity of a “spondylolysis gene”.
Prenatal diagnosis of an XXY foetal karyotype in a woman with a previous 21‐trisomic child
Authors: Gustavson K.‐H. , Kjessler B. , Thorén S. 
Published: July 2010

Prenatal chromosome analysis revealed that a 34‐year‐old, gravida 2 mother was pregnant with an XXY foetus. She had previously given birth to a 21‐trisomic boy with another spouse.Both parental karyotypes were normal, but a high frequency of associations between satellited chromosomes was observed in maternal lymphocytes. The possibility that increased satellite associations may predispose to aneuploidy in the offspring is discussed.The finding of normal testicular histology in the aborted XXY foetus provides evidence that the characteristic XXY testicular dysgenetic lesions are likely to occur not earlier than in the late prenatal period.
Apparently non‐deleted ring‐1 chromosome and extreme growth failure in a mentally retarded girl
Authors: Kjessler B. , Gustavson K.‐H. , Wigertz A. 
Published: July 2010

A girl, who was the product of the first recognized conception by healthy and chromosomally normal parents, and who was born 5 weeks before term with a birth weight of only 1,690 g, was found to have a ring‐1 chromosome, r(1), in almost all cells analysed. A minor proportion of cells had a normal diploid chromosome complement including two regular No. 1 homologues. A few cells contained a large dicentric ring, and two monocentric ring‐1 chromosomes were simultaneously observed in a few other cells. Q‐ and G‐banding revealed the r(1) chromosome to be apparently non‐deleted. The patient phenotypically resembled the three previously described human subjects with r(1) chromosomes, especially with respect to her remarkable growth failure and mental retardation.From consideration of data available on general development in subjects with an autosomal ring chromosome, it appears likely that the presence of such a ring chromosome per se in an early foetal chromosome complement may predispose to significantly retarded intrauterine and postnatal growth. Various genetical implications, including mitotic irregularities with subsequent loss of cells at division, are thought to account for the significant reduction of body mass in these patients.
ABO and Rh phenotyping of foetal blood obtained by foetoscopy
Authors: Philip John , Brandt Niels Jacob , Fernandes Alvito , Freiesleben Erik , Trolle Dyre 
Published: July 2010

Blood samples taken from the foetus by foetoscopy early in the 2nd trimester of pregnancy can be used for reliable blood grouping. However, the sampling technique is not perfect. In 5 out of 15 pregnant women, no foetal blood was obtained, although between 1 and 10 samples were taken on each occasion. One‐third of 56 samples from the 10 women contained foetal blood.Contamination of samples with amniotic fluid varied, but did not interfere with the blood grouping. ABO and Rh typing of the foetus was possible even if the samples were contaminated with large amounts of maternal blood.In nine cases, blood grouping of the foetus was performed on red cells from foetoscopy samples. Control blood samples from the foetus following abortion were obtained in seven of these cases, and the foetoscopic results were confirmed.
Renal dysplasia and asplenia in two sibs
Authors: Crawfurd M. d‘A. 
Published: July 2010

A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, nodular and cystic but the liver appeared macroscopically normal. In the second child, histological examination confirmed pancreatic fibrosis with cystic dilation of ducts, but showed portal fibrosis with bile duct proliferation in the liver.This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner.
Polymorphism of apolipoprotein E
Authors: Utermann G. , Albrecht G. , Steinmetz A. 
Published: July 2010

Two methods for phenotyping apolipiprotein E are compared. One is based on preparation of VLDL by conventional ultracentrifugation, whereas the other uses heparin/Mg precipitation of VLDL. In principle, the same results were obtained by both methods. However, the group limits for the three different phenotypes Apo E‐N, Apo E‐ND and Apo E‐D were slightly different by the two methods.Phenotype Apo E‐D ‐ the phenotype characterizing type III dyslipoproteinemia ‐ is clearly definable by both methods. Hence the precipitation‐I.E.F. method for Apo E phenotyping provides a simple tool for genetic and population genetic studies and also for the routine diagnosis of hyperlipoproteinemia type III, based on the only specific marker known for this disease.
Schizophrenia in a North Swedish geographical isolate, 1900–1977. Epidemiology, genetics and biochemistry
Authors: Böök J. A. , Wetterberg L. , Modrzewska K. 
Published: July 2010

Over 200 schizophrenic patients belonging to three major and interrelated pedigree complexes have been investigated over the past 30 years in a North Swedish geographically isolated population, presently numbering about 6,000. An intensive investigation of a number of biochemical correlates and genetic markers in a few selected families belonging to one of the major pedigrees has indicated new strategies for the current research program.Schizophrenia, as defined operationally, is significantly associated with decreased activities of two enzymes (1) blood platelet monoamine oxidase, (2) plasma dopamine‐β‐hydroxylase, and (3) with the genetic marker Gc2(group specific antigen). Both enzymes are subject to genetic variation. A positive score for linkage between schizophrenia and low plasma DBH activity has been calculated, but, so far, available data are insufficient for discrimination between linkage and partial contribution of genetically controlled low plasma DBH to the pathogenesis of the disease. Alternatively, both mechanisms could be involved.As a model for continued research, schizophrenia is explained as based on a double dominant‐recessive genotype (Aabb), representing a vulnerability which in about 50 % of cases develops into clinical schizophrenia. It is suggested that the dominant mutation (A) operates on or affects MAO activity, and that the recessive genotype (bb) is instrumental in low variates of DBH activity and very likely such variates within the normal range of physiological variation. Moreover, it is suggested that the combined effects of MAO‐ and DBH‐reduced efficiency on the metabolism of e.g. dopamine could be an essential pathogenic mechanism for the schizophrenic illness which is segregating in this population.
Expression of “adult” polycystic renal disease in the fetus and newborn
Authors: Shokeir M. H. K. 
Published: July 2010

The manifestations of “adult” polycystic disease of the kidneys are reported in fetal life and during infancy. At the time of diagnosis, the patients in whom the disorder was detected were a stillborn fetus, a liveborn baby immediately after birth, a neonate at 3 weeks of age, and three infants between 2½ and 4 months of life. In all six cases, who were unrelated, similar implication of other family members was elicited, and in four, parental disease was documented. As expected, the disorder in these families was transmitted in an autosomal dominant fashion. Apart from the youngsters reported here, all the other known patients in the respective families were of adult age.The disease was fatal in all of our patients, with death ensuing (except, of course, in the stillbirth) from hours to weeks after the diagnosis.This report underlines the variability in the age of expression and the mode of presentation of “adult” polycystic kidney disease.
Mosaicism and the trisomy 8 syndrome
Authors: Berry A. C. , Mutton D. E. , Lewis D. G. M. 
Published: July 2010

Three new cases of trisomy 8 mosaicism are presented; two have features corresponding with those usually found in this syndrome, whereas one is highly atypical.In view of the almost universal mosaicism of these patients, the literature is reviewed with an emphasis on the patterns of mosaicism found. There is little correlation between degree of mosaicism and extent of clinical abnormality. The degree of mosaicism differs in different tissues, fibroblasts being more informative of aneuploidy than lymphocytes, and there is some evidence that the degree of mosaicism varies with time. The reasons for these findings are discussed, with particular reference to the raised paternal age found in a proportion of the reported cases.
In vitro studies of the interaction of calcium ions and other divalent cations with the Lp(a) lipoprotein and other isolated serum lipoproteins
Authors: Dahlén G. , Ericson C. , Berg K. 
Published: July 2010

The interaction of isolated Lp(a) lipoprotein with different divalent cations was studied and compared to that of other isolated lipoprotein classes.Purified Lp(a) lipoprotein was found to be most sensitive to the metal ions tested, and the Lp(a) lipoprotein was the only lipoprotein which was precipitated by calcium ions alone. The precipitation apparently depends on the ionic radii of the cations used as well as on the lipoprotein class tested. The precipitation reaction between calcium ions and the Lp(a) lipoprotein, and the interaction between calcium ions and LDL (without precipitation) seem to follow the known rules for small ion ‐ macromolecule interaction reasonably well. The calcium ion ‐ Lp(a) lipoprotein interaction results in a small aggregate. The binding is of ionic type and the precipitation reaction is initially reversible. It was estimated that LDL particles have a mean of 290 equivalent and non‐interacting binding sites for calcium ions.The above observations concerning the Lp(a) lipoprotein may be of interest in view of the significantly higher frequency of early coronary heart disease in Lp(a+) than in Lp(a‐) individuals, and in view of the previously reported biochemical differences between individuals of different Lp phenotype.
Complete trisomy 22
Authors: Shokeir M. H. K. 
Published: July 2010

Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome #22.The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post‐natal growth retardation, mental retardation with further severe deterioration at 3–5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low‐set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
Partial tetrasomy 9 in a liveborn infant
Authors: Wisniewski L. , Politis G. D. , Higgins J. V. 
Published: July 2010

An unusual rearrangement of chromosome 9 was identified in a male infant with multiple congenital malformations. The rearrangement appeared as a fusion of two number 9 chromosomes with similar long‐arm breakpoints. Since the infant also possessed two normal 9's, the presence of the additional chromosome resulted in partial tetrasomy: 47,XY, + tdic(9;9)(q22;q22). Clinical and autopsy examinations revealed many features reminiscent of trisomy 13.The tdic was functionally monocentric, although some evidence of activity at the second centromere was observed. Both parents had normal karyotypes, and C‐banding demonstrated that at least one of the 9h regions on the tdic was likely to be of maternal origin.
Partial trisomy 15 and temporal lobe syndrome in a retarded girl without gross malformations
Authors: Hongell K. , Iivanainen M. 
Published: July 2010

A supernumerary small bisatellited chromosome was found in a girl with stunted growth and psychomotor retardation. The extra chromosome was identified as a deleted 15, del(15)(q21), with C‐band positive heterochromatin and satellite‐like appendages to the distal end of the long arm. This chromosome was the product of a translocation between a chromosome 15 and some other acrocentric chromosome, as shown by G‐, C‐ and Q‐banding and silver staining of the nucleolus organizer regions.The proposita had no gross phenotypic malformations. She had a small head, a high forehead, oblique palpebral fissures, bilateral enophthalmus, clinodactyly and simple dermatoglyphic patterns. She was autistic and suffered from epileptic seizures and expressive aphasia. The waking electroencephalogram revealed diffuse abnormalities; sleep recording showed focal spikes and sharp waves anteriorly on the left side. The pneumoencephalogram showed microventriculy, an enlarged left temporal horn and some enlarged sulci in the right frontotemporal cortex.The prenatal influence of the chromosome anomaly is interpreted as being the primary cause of these disorders, neonatal asphyxia being a secondary contributing factor.
Biochemical studies on an unusual case of fucosidosis
Authors: Alhadeff Jack A. , Andrews‐smith Grai L. , O'Brien John S. 
Published: July 2010

Biochemical studies have been performed on the spleen and liver of a patient suspected of having fucosidosis. The specific, complete deficiency of 4‐methylumbelliferyl (4‐MU)‐α‐L‐fucosidase activity coupled with the massive liver accumulation of polar glycolipids (comparable to those found in a known case of fucosidosis), confirms the diagnosis of fucosidosis. The patient is unusual in that his liver retains 25–50 % of normal α‐L‐fucosidase activity for the p‐nitrophenyl (PNP) substrate. The patient's spleen showed complete deficiency of α‐L‐fucosidase activity for both 4‐MU‐ and PNP‐α‐L‐fucopyranoside. The patient's crude liver α‐L‐fucosidase was not significantly different in thermostability when compared to the crude enzyme from a normal liver.After partial purification on agarose‐ɛ‐aminocaproyl‐fucosamine and sepharose‐concanavalin A, the patient's liver α‐L‐fucosidase was found to possess both PNP and 4‐MU activities. This suggests that components in the patient's crude liver supernatant may inhibit 4‐MU‐α‐L‐fucosidase activity. This was demonstrated further when the patient's liver supernatant was found to inhibit significantly normal liver 4‐MU‐α‐L‐fucosidase activity. Kinetic and immunochemical characterization indicated that the patient's α‐fucosidase was similar, if not identical, to the normal liver enzyme. Apparent Km's for 4‐MU‐α‐L‐fucopyranoside were determined to be 0.1 mM and 0.12 mM for the patient and normal liver enzyme, respectively. The IgG fraction of antiserum prepared against purified normal liver α‐L‐fucosidase immunoprecipitated 81 % of the patient's α‐L‐fucosidase, suggesting similarity of antigenic determinants.