bluuebunny/crossref_metadata_2025_split huggingface dataset:
Infantile type of sialic acid storage disease with sialuria
Authors: Paschke E. , Trinkl G. , Erwa W. , Pavelka M. , Mutz I. , Roscher A. 
Published: July 2010

We describe a male infant of Austrian ancestry, the main clinical features including attacks of dyspnea due to laryngomalacia, severe mental and motor retardation, pronounced splenohepa‐tomegaly and vacuolisation of peripheral lymphocytes. The clinical condition deteriorated progressively and the child died at the age of 21 months.Phase and electron microscopy of cultured skin fibroblasts showed multiple vacuoles and inclusions suggestive of a lysosomal storage disorder.Increased excretion of free sialic acid was demonstrated by resorcinol staining after routine thin‐layer screening for urinary oligosaccharides. Quantitative analyses of urine, leucocytes and cultured fibroblasts revealed 10 to 30‐fold increased concentrations of free sialic acid. In addition, 3‐fold elevated amounts of sialyloligosaccharides were found in the urine. The activities of a variety of lysosomal enzymes, including sialidase, were normal.Our case is compared with infantile sialic acid storage disease recently observed by other authors. The close convergence of clinical, morphological and biochemical signs support the concept of a distinct lysosomal disease entity. The basic defect is so far unknown.
Adult polycystic liver and kidney diseases are separate entities
Authors: Karhunen PekkaJ. , Tenhu Martti 
Published: July 2010

In 22 cases of either adult polycystic liver (PLD) or polycystic kidney (APCD) disease, considered as one dominantly inherited entity, both diseases occurred together only once. Early microscopical cystic lesions that are typical of PLD were found in another case of APCD. In this medicolegal autopsy series the incidence of PLD was 0.05% and that of APCD 0.08%.Cerebral haemorrhage or cerebral aneurysms were found in 50% of APCD cases but in none of the cases with only PLD (p<0.01). Of the cases with PLD, 50% had associated renal cysts and 10% of the cases with APCD had associated liver cysts. The same medicolegal autopsy material yielded a prospective series of 95 male cases, where, however, kidney cysts were normally present in over 50% and liver cysts in about 20% of the cases of similar age. Thus, a part of the association between cystic disease of the liver and kidney may have been based on the common occurrence of cysts in old age.V. Meyenburg's complex was the microscopic alteration associated with cysts in PLD. It was associated as well with liver cysts in APCD suggesting that an intricate relation between PLD and APCD does occur in part of the cases, in this series characterized by large size APCD kidneys.The results indicate that in adults PLD is an entity of its own, expressed in most of the cases independently of APCD.
Partial trisomy 3p syndrome
Authors: Reiss JacobA. , Sheffield LesJ. , Sutherland GrantR. 
Published: July 2010

Two cousins with an unbalanced chromosome translocation (partial trisomy 3p) are described. Both children have a clinically recognizable syndrome of square facies with prominent cheeks, narrow bitemporal regions, psychomotor retardation and congential heart disease. Extended family studies showed one other individual proven to have partial trisomy 3p karyotype, two retarded individuals with congenital heart disease who probably had it, and 14 balanced carriers of the translocation t(l;3)(q43;p21).This report confirms the characteristic clinical appearance of affected individuals and emphasizes the frequency in which congenital heart disease is the presenting feature of partial trisomy 3p. An additional 22 cases of partial 3p trisomy are reviewed.
Pepsinogen A polymorphism in gastric mucosa and urine, with special reference to patients with gastric cancer
Authors: Westerveld B. D. , Pals G. , Defize J. , Pronk J. C. , Frants R. R. , Ooms E. C. M. , Kreuning J. , Eriksson A. W. , Meuwissen S. G. M. 
Published: July 2010

Electrophoretic pepsinogen A patterns were determined in gastric fundic mucosa biopsies from 601 patients with various gastric disorders and 25 healthy volunteers. Pepsinogen A patterns with an intense fraction 5 appeared to be associated with gastric cancer and premalignant changes of the stomach (p < 10‐9). In 60 individuals pepsinogen A patterns were determined in normal mucosa from different parts of the stomach. No differences were found between these patterns. In 29 out of 59 gastric cancer patients pepsinogen A could be demonstrated in the macroscopically malignant tissue. In two cases a different pattern compared with uninvolved fundic mucosa was observed.During a follow up study, major changes in the pepsinogen A pattern were observed in 7 out of 56 patients. In 8.6% of the examined patients urinary pepsinogen A patterns differed considerably as compared with the pattern observed in the gastric fundus.The results suggest that the highly significant association between intense Pg5 (the product of the D gene) and gastric cancer or its precursors may be caused by genetic as well as non‐genetic factors.
High‐resolution cytogenetic studies in patients with Prader‐Willi syndrome
Authors: Takano Takako , Nakagome Yasuo , Nagafuchi Shigeo , Tanaka Fumihiko , Nakamura Yasuhide , Nagano Tetsu , Tanae Ayako , Hibi Itsuro 
Published: July 2010

We investigated 24 patients with Prader‐Willi syndrome by the high‐resolution banding technique. Their history and clinical findings were also examined in some detail.Twelve had interstitial deletion of 15q;.del(15) (ql 1.2q13) in 11 cases and del(15) (ql 1.2q12) in one case. Six revealed normal karyotypes at about 500–850 bands per haploid‐set level. In an additional six cases, no deletion was detected. However, we took the results as tentative, as the observed karyotypes were at the 400‐bands level. During the course of this study, it was realized that a small deletion in the proximal 15q could be easily overlooked when a mitotic spread around 400‐bands or less per haploid‐set level was used.There was no distinct difference in the clinical features of patients with interstitial deletion and those with a normal karyotype. Two cases in the latter group lacked some of the typical features of the former group, e.g. poor fetal vigor, neonatal feeding difficulty, hypotonia, and delayed motor development.
Inbreeding and schizophrenia
Authors: Saugstad L. , ØDegård Ø. 
Published: July 2010

The unique situation that the Norwegian 1891 census included information on consanguineous relation between spouses and that first admissions to psychiatric hospitals by diagnosis were available for the years 1921‐40, formed the basis for the present study. There are similarities between the pattern of inbreeding and admission rates in our rural communities, but we were unable to demonstrate any significant correlation. This is interpreted as due to selective avoidance in the choice of a marriage partner, particularly between near relatives. Good neighbourhood knowledge was an important factor in our sparsely populated communities with a marriage pattern distinguished by extreme geographical proximity of residence of spouses.The considerably lower proportion of first cousin matings than expected among parents of psychiatric in‐patients 1926‐55, illustrates the lower psychiatric morbidity in offspring of consanguineous parentage.Admissions 1921—40 comprised only functional psychoses with a predominance of schizophrenia (> 80%), which today is diagnosed in less than 10%. A decline in incidence rate is not likely, whereas changing diagnostic practice is probably a main factor. The near disappearance of catatonia and hebefrenia could be related to the introduction of psychotropic drugs and the accompanying improvement in hospital treatment. The epidemiology of schizophrenia is unchanged with a significant excess in lower social classes. This could in part be due to schizophrenic phenocopies related to the unchanged social differential in infant mortality and morbidity (including a particular season of birth effect), in part to the prevalence of adverse environment postnatally. The considerably greater male marital differential has probably a social cause, whereas male earlier onset of disease and more severe course of the disease are discussed in relation to the new concept of progressive sexual brain differentiation.
Tapeto‐retinal degeneration in four Norwegian counties II
Authors: Gröndahl Jan 
Published: July 2010

In four Norwegian counties (fylker) 89 probands with tapeto‐retinal degeneration have been traced and examined by the author. 407 of their nearest relatives (mostly first degree relatives) were also examined. A total of 63 of the relatives were found to be affected, of whom 42 had not been registered previously.After completion of the examinations the mode of inheritance differed from that previously estimated in 50% of the families.Of the 48 families with “classical” retinitis pigmentosa, 8% showed autosomal dominant, 50% autosomal recessive and 2% X‐linked recessive inheritance. The remaining 40% were families with solitary cases without consanguinity between the parents of the affected person.Of five families with retinitis pigmentosa of pericentral type, four demonstrated an autosomal dominant pattern of inheritance.
DNA polymorphism at the apolipoprotein B locus is associated with lipoprotein level
Authors: Berg Kåre 
Published: July 2010

A strong association has been uncovered between DNA variation at the apolipoprotein B (apoB) locus (detectable with the restriction endonuclease Xbal) and apoB level. The findings are suggestive of associations also between this DNA polymorphism and total cholesterol as well as fasting triglyceride levels, confirming recent results reported by British workers. The data suggest that lipid/apolipoprotein associations with the Xbal polymorphism are primarily caused by an effect on apoB level.In the present and in a previously reported study we found a strong association between the Xbal polymorphism and the homospecific Ag antigenic variation in low density lipoprotein (LDL) which had previously exhibited associations with lipid levels. The present data indicate that the apoB/lipid associations of the Ag and Xbal polymorphisms may reflect the same phenomenon.The associations reported could reflect variation in an apoB domain close to Ag as well as to the Xbal restriction site that is of importance for lipid binding by apoB. Alternatively, the association of apoB level with the Xbal polymorphism (which reflects a silent third base mutation in a threonine codon) could reflect phenomena related to codon usage.
How do carriers of hemophilia experience prenatal diagnosis by fetal blood s ampling?
Authors: Ljung R. , Tedgård U. , McNeil T. , Tedgård E. 
Published: July 2010

A semistructured personal interview was performed with 29 carriers of hemophilia A or B, 1–4 years after a pregnancy in which prenatal diagnosis (PND) of hemophilia was performed by fetal blood sampling. The carriers had received different recommendations regarding future pregnancies, and 14/29 did not know before they became pregnant that PND by fetal blood sampling was possible. One third of the women felt that important information was lacking in the consultations that preceded the PND.The conclusions regarding future genetic counselling are that more attention should be paid to improving education of all female carriers before a pregnancy, to motivating fathers‐to‐be to attend counselling sessions with the carriers, and to emphasizing the importance of the emotional support given by the family doctor and by other females who have experienced PND.
Syndrome of microcephaly, deafness/ malformed ears, mental retardation and peculiar facies in a mother and son
Authors: Kawashima H. , Tsuji N. 
Published: July 2010

We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low‐set, cup‐shaped ears, thick, protruding lower lip, micrognathia, and mental retardation.We conclude that these patients have a previously undescribed type of genetic microcephaly. The mother has become normocephalic and we would not have been able to diagnose her condition without her childhood photographs. Such photographs are essential in the recognition of familial syndromes.
Single maxillary central incisor and coloboma in hypomelanosis of Ko
Authors: Bartholomew D. W. , Jabs E. W. , Levin L. S. , Ribovich R. 
Published: July 2010

Incontinentia Pigmenti Achromians is a neurocutaneous disorder of uncertain etiology that has been associated with other systemic manifestations including ophthalmologic, musculoskeletal, neurologic and dental abnormalities. Chromosome abnormalities have been documented in some cases but may be coincidental.We describe a 16‐month‐old black female with an iris coloboma and single central deciduous maxillary incisor in addition to the hypopigmented skin lesions of hypomelanosis of Ito. The combination has not been previously described.
Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis
Authors: Muggah Henry , Hunter Alasdair G. W. , Ivey Brian , Cox David M. 
Published: July 2010

In April 1985, having completed a study of the short‐term complications of chorionic villus sampling (CVS), we began a randomized comparison of CVS versus amniocentesis. Our study continued over a 15‐month period, and during that time we had difficulty recruiting patients, with only 10.6% of 1254 women referred for prenatal diagnosis fully participating in this study. However, 30.2% of those eligible by dates and indication chose to enter the study. CVS was available in our province only through this study, and the two most common reasons for such a low rate of recruitment were reporting too late in pregnancy and the concern about the potential risks of CVS. Patients continued to seek counselling too late for CVS despite direct and continuous contact with regional physicians. Our patients' concern about risk might well vary with the attitude of their physicians towards CVS, and with the information provided at the time of pre‐test counselling.The small number of patients actually enrolled did not permit any meaningful comparison of amniocentesis to CVS. However, our experience with pregnancies lost post‐CVS suggests that a pregnancy with an apparent low implantation at the time of sampling may be at a higher risk of loss.
RFLP analysis for diagnosis of haemophilia A in the German Democratic Republic
Authors: Herrmann F. H. , Wehnert M. , Wulff K. 
Published: July 2010

The frequencies of Bcl I, Hind III and Xba I intragenic polymorphic sites in the population of the GDR were found to be 0.68, 0.38 and 0.48, respectively. No differences in composition and frequencies were detectable at DXS 52 locus in comparison with other Caucasian populations. A strong linkage disequilibrium between the intragenic Bcl I and Hind III sites could be confirmed. The observed heterozygosity for the flanking marker DXS 52 in combination with intragenic Bcl I and Xba I polymorphisms was 0.97.Using these three RFLPs, 122 females at risk in 41 independent haemophilia A families were investigated; 86 of them could be identified and 27 excluded as carriers; 9 females could not be classified. So far, four prenatal diagnoses in the first trimester of gestation have been performed by RFLP analysis.
Lack of specificity of DA/DAPI fluorescence
Authors: Lin M. S. , Huynh K. H. , Fujimoto A. , Wilson M. G. 
Published: July 2010

Cytogenetic studies showed 47,XY, + mar in a developmentally retarded child with some features of Prader‐Willi syndrome, and 46,XX in his mother. The marker chromosome showed a single subterminal primary constriction, bisatellites, and two C‐bands. DA/DAPI staining showed two intense bands in the marker chromosome, which most likely was derived from chromosome 15.Intense DA/DAPI fluorescence was also found in one chromosome 13 in the child, and one 13 and one 10 in his mother. The present results confirm the reports of DA/ DAPI heteromorphism in acrocentric chromosomes other than the 15, and demonstrate a pericentric DA/DAPI heteromorphism in chromosome 10.
Population variation and genetics of plasma homocyst(e)ine level
Authors: Berg Káro , Malinow M. Rans , Kiarulf Pater , Upson Barbara 
Published: July 2010

A high level of plasma hoinocyst(e)ine (H(e)) has been reported to be an independent risk factor for coronary heart disease (CHD), at least in some populations. We have determined the H(e) concentration in the plasma of two series of Norwegians in order to establish a baseline for future analysis of people with CHD. The mean sex‐ and age‐adjusted homocyst(e)ine level was 10.6 (range 4.84–29.88) in one series and 10.5 (range 3.76–40.57) in the other. The H(e) level appeared to be independent of other proven or potential risk factors or protective factors with respect to CHD. The intraclass correlation coefficient in monozygotic (MZ) twins is a (possibly inflated) estimate of heritability. We have examined two series of MZ twins. The intraclass correlation coefficient was significant in both series. In one series, the Pearson correlation coefficient was 0.53 and the Kendall correlation coefficient 0.38.In the other, the values were 0.56 and 0.46, respectively. We conclude that in the population examined, H(e) levels exhibit significant heritability.
Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity
Authors: Grubben C. , da Cecil P. , Borghgrae M. , van den Berghe H. , Fryns J. P. 
Published: July 2010

Grubben C, De Cock P, Borghgraef M, Van den Berghe H, Fryns JP. Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypertrophy of the distal extremities, dental anomalies and eczematous skin. A new autosomal recessive entity. Clin Genet 1992:41: 16–21.We report on three young children, two girls and one boy, with pre‐ and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, hypotrophy of the distal extremities, small hands and feet, small and widely spaced teeth, eczematous skin, and, in two of them, a partial agenesis of the corpus callosum. To our knowledge this specific combination of features has not been reported before. Since the two girls are sisters and the boy is the product of a consanguineous marriage, the inheritance of this new syndrome appears to be autosomal recessive.
Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y‐bearing mosaic Turner syndrome
Authors: de Arce Miguel A. , Costigan Colm , Gosden John R. , Lawler Mark , Humphries Peter 
Published: July 2010

De Arce MA, Costigan C, Gosden JR, Lawler M, Humphries P. Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y‐bearing mosaic Turner syndrome. Clin Genet 1992:41:28–32.An 8‐year‐old girl with some features of Turner syndrome and karyotype 45X/46XY had developed a bilateral gonadoblastoma in her rudimentary ovaries. Her normal Y chromosome showed the characteristic distal fluorescence, as seen in her father's. Another mosaic, this time 45X/46XidicY, and also with some Turner features had rudimentary ovaries, but no gonadoblastoma had developed at age 14.The nature of her idicY, which showed no fluorescent distal Yq and had one of the centromeres inactivated, was confirmed by in situ hybridisation with a Yp‐specific probe. Using primers from a human Yp‐specific sequence, we amplified DNA extracted from paraffin‐embedded ovarian tissue from both cases, and from a normal testicle and a normal ovary as controls. The finding of the expected Y‐derived PCR product in the rudimentary gonads from these mosaic patients indicates the presence of their Y chromosome in both. We discuss the validity of the findings, and the possible role of sequences in or near the fluorescent part of Yq in the origin of gonadoblastoma in Y‐bearing mosaic Turner syndrome.
Severe Silver‐Russell syndrome and translocation (17;20) (q25;q13)
Authors: Ramírez‐Dueñas M. L. , Medina C. , Ocampo‐Campos R. , Rivera H. 
Published: July 2010

Ramírez‐Dueñas ML, Medina C, Ocampo‐Campos R, Rivera H. Severe Silver‐Russell syndrome and translocation (17;20)(q25;q13). Clin Genet 1992:41: 51–53.An 8‐year‐8‐month‐old girl with Silver‐Russell syndrome (SRS) and a paternally inherited balanced t(17;20)(q25;q13) is described. This observation suggests that an SRS gene(s) maps on chromosome 17 or 20 and that the patient phenotype resulted from either unmasking of heteroz‐ygosity or genomic imprinting via paternal disomy.
Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case
Authors: Lerone M. , Possagno A. , Taccone A. , Poggi G. , Romeo G. , Silengo M. C. 
Published: July 2010

Lerone M, Pessagno A, Taccone A, Poggi G, Romeo G, Silengo MC. Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. Clin Genet 1992: 41: 87–89.A syndrome of ocular and cutaneous hypopigmentation, severe mental retardation with spastic tetraplegia and athetosis was first observed by Cross in three siblings of an inbred Amish family. Since then, seven other patients, three, sporadic and four with familial recurrence, have been reported in the literature, confirming the autosomal recessive inheritance. The clinical spectrum of the syndrome has been expanded to include true developmental defects of the CNS such as cystic malformation of the posterior fossa of the Dandy‐Walker type. We report a new case of Cross syndrome.
No effect of a Taql polymorphism in DNA at the endothelin I (EDN1) locus on normal blood pressure level or variability
Authors: Berge K. L. , Berg K. 
Published: July 2010

Berge KE, Berg K. No effect of a Taql polymorphism in DNA at the endothelin I (EDN1) locus on normal blood pressure level or variability. Clin Genet 1992: 41: 90–95.Endothelin is a peptide reported to be one of the most potent vasoconstrictors known. Presumably, endothelin could play a role in the physiological regulation of blood pressure in healthy or hypertensive people. We have studied a normal restriction fragment length polymorphism (RFLP) at the endothelin‐I (EDN1) locus detected with the restriction enzyme Taql. In three different series comprising 166, 120 and 207 unrelated individuals, we found no evidence for association between genotype in this polymorphism and level of systolic or diastolic blood pressure. In two series of 156 and 117 monozygotic (MZ) twin pairs, respectively, there was no difference between genotypes in within‐pair variation in systolic or diastolic blood pressure. Thus neither “level gene” nor “variability gene” effects of normal genes at the EDN1 locus could be detected with the polymorphism analyzed, in healthy population samples.