bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maximal low density lipoprotein receptor activity and the effect of lipid lowering diet on total serum cholesterol
Authors: Leren Trond P. , Hjermann Ingvar , Børresen Anne‐Lise , Berg Kåre , Leren Paul 
Published: July 2010

This study was undertaken to test if the effect of lipid lowering diet on total serum cholesterol, is influenced by maximal low density lipoprotein (LDL) receptor activity.LDL receptor activity was determined in cultured skin fibroblasts from hypercholesterolemic, male subjects after lipid lowering diet intervention. The LDL receptor values from 15 subjects (responders) who had responded well to a lipid lowering diet and from 14 subjects (non‐responders) who had responded poorly, were compared. The responders had a reduction in total serum cholesterol of 29.4%, and the non‐responders had a reduction of 8.2% (p < 0.0001). The higher values for LDL receptor activity among the responders did not reach statistical significance. For all 29 subjects there were non‐significant positive correlations between reductions in total serum cholesterol and values for association or degradation of 125I‐LDL at 37°C (r = 0.16, p = 0.40 and r = 0.17, p = 0.38, respectively).Thus, it seems that maximal LDL receptor activity is not a major predictor for the response of lipid lowering diet on total serum cholesterol levels in hypercholesterolemic subjects without autosomal dominant familial hypercholesterolemia.
Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters
Authors: Hoo J. J. , Lowry R. B. , Lin C. C. , Haslam R. H. A. 
Published: July 2010

Two sisters with similar clinical features are described. Their clinical manifestations include mental retardation, delayed speech development, low percentiles for height, weight and head circumference, dysmorphic ears, cubitus valgus, pseudoclubbing of fingers, flexion deformity of toes, small kidneys, elevated serum creatinine and blood urea nitrogen (BUN).High resolution chromosome analysis revealed a complete deletion of 16qh with a concurrent small deletion of the adjacent euchromatic segment 16q12.1 in one of the no. 16 chromosomes of both sisters, whereas the parents had normal no. 16 chromosomes. Length polymorphism of the 16qh regions appeared to indicate a maternal origin of the deleted no. 16 chromosome in both sisters. The clinical features of both sisters were attributed to the 16q12.1 deletion. Since both parents were cytogenetically normal, the two sisters were considered as a recurrence of a similar de novo interstitial deletion. Possible mechanisms which could lead to recurrence of a seemingly de novo event are discussed.
Tapeto‐retinal degeneration in four Norwegian counties I
Authors: Grøndahl Jan 
Published: July 2010

An attempt was made to trace all cases of tapeto‐retinal degeneration in Norway. Four counties (fylker) were selected for personal examination of probands with a diagnosis of unspecified tapeto‐retinal degeneration, retinitis pigmentosa, or Usher syndrome.The examinations led to the rejection of the diagnosis of tapeto‐retinal degeneration in three persons, and in another four persons a diagnosis of choroidal dystrophy was made. The specific type diagnosis was adjusted in 26 additional persons.The results indicate that in Norway the diagnosis of retinitis pigmentosa may be made too frequently. Patients with Usher syndrome, choroideremia or cone‐rod dystrophy are most often given the diagnosis of retinitis pigmentosa. Retinitis pigmentosa of pericentral type is in general not specified, and the diagnosis of tapeto‐retinal degeneration without specified type diagnosis and retinitis pigmentosa are sometimes intermingled.
Inheritance of atrioventricular conduction time in Tokelau Islanders
Authors: Griggs L. H. , Chapman C. J. , McHaffie D. J. 
Published: July 2010

The inheritance of A‐V conduction time in Polynesians has been examined, using ECGs taken from the population of the Tokelau Islands. As has been demonstrated in other racial groups, A‐V conduction time was influenced by sex, age, and heart rate.Complex segregation analysis provides evidence for a significant polygenic influence on A‐V conduction, but no evidence for a major gene. Familial correlations and commingling analysis are in agreement with this conclusion. The heritability of A‐V conduction time was 0.46.The hypothesis of M0ller & Heiberg (1980a) that a major gene could be influencing A‐V conduction, is not supported by these data.
α1‐antitiypsin deficiency and the flaccid lung syndrome
Authors: Klasen E. C. , Biemond I. , Laros C. D. 
Published: July 2010

A significantly higher number of PI ZZ and PI MZ individuals was found in a flaccid lung population as compared to internal and healthy controls. The relative risk for ZZ is 12.5 and for MZ 1.8.We conclude that if a PI MZ individual does develop lung disease, the excess risk due to the deficiency is negligible compared to MM individuals and is highly influenced or modified by other factors, possibly including both environmental and genetic.
Evidence for preferential involvement of chromosome bands 6p21 and 13q14 in amniotic fluid cell balanced translocation pseudomosaicism
Authors: Benn Peter A. , Hsu Lillian Y. F. 
Published: July 2010

Chromosome rearrangement is a relatively common finding in cultured amniotic fluid cells. When cytogenetic abnormalities are confined to one cell or cells from a single culture, they are generally assumed to have arisen in culture (pseudomosaicism). To determine whether or not there might be some specificity in chromosome break‐points in balanced translocation multiple cell pseudomosaicism, data has been pooled for 18 cases studied at PDL and 30 cases from the U.S. survey on mosaicism and pseudomosaicism (Hsu & Perlis 1984).Out of a total of 97 break‐points, 87 were assigned to Giemsa‐staining light bands and 12 to Giemsa‐staining dark bands. An excess of break points (29%) were assigned to terminal bands. Two loci appeared to be preferentially involved in rearrangement: 1) six break‐points (4 PDL cases and 2 others) were assigned to band 6p21; the region to which the major histocompatibility complex (HLA) has been assigned; 2) Four break‐points (all PDL cases) were assigned to 13q14, the region associated with the retinoblastoma locus.This preliminary evidence for specific break‐points needs confirmation and long‐term follow‐up information is needed to determine whether or not there is any clinical significance to these observations.
Long term survival of a patient with the cerebro‐hepato‐renal (Zellweger) syndrome
Authors: Bleeker‐Wagemakers E. M. , Oorthuys J. W. E. , Wanders R. J. A. , Schutgens R. B. H. 
Published: July 2010

A 13‐year‐old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described. In early life the diagnosis of Zellweger (cerebro‐hepato‐renal) syndrome was considered because of hypotonia, craniofacial dysmorphia, abnormal liver functions and pipecolic aciduria.Biochemical studies in fibroblasts from the patient revealed a general peroxisomal dysfunction comparable to the findings in Zellweger Syndrome. As the clinical presentation of this patient is essentially different from that in classical Zellweger patients, who usually die early in life, we recommend the study of peroxisomal functions in all patients with severe mental retardation, tapetoretinal degeneration and sensoneurinal hearing loss.
The Borjeson‐Fbrssman‐Lehmann syndrome
Authors: Dereymaeker A. M. , Fryns J. P. , Hoefnagels M. , Heremans G. , Marien J. , Berghe H. van den 
Published: July 2010

The propositus of this report presents a peculiar dysmorphic syndrome associated with severe mental retardation and epileptic attacks. Morphological stigmata include a round, fatty face with large, somewhat protruding tongue, large normally formed ears, relative microcephaly, abundant abdominal fat, dwarfism with hyperkyphosis and short neck.Analogous phenotypic abnormalities were present in the mother and a maternal cousin. The clinical and familial findings in this apparently rare mental retardation syndrome with apparently X‐linked dominant or autosomal dominant inheritance with variable expression and penetrance are discussed.
Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20mosaicism
Authors: Holzgreve Wolfgang , Golabi Mahin , Bradley Joel 
Published: July 2010

The clinical significance of trisomy 20 mosaicism in amniotic fluid cultures has remained unclear so far. We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells.The child had generalized dysmorphic features, including facial dysmorphy resembling those of a child with Williams syndrome. The boy also had hypotonia and language delay. Although most of the published cases do not mention any abnormalities in children born after prenatal diagnosis of trisomy 20 mosaicism, the distinct cranio‐facial features and the similarities to previous reports of partial or complete chromosome 20 mosaicism raises the possibility that a recognizable pattern of malformation might be associated with the prenatally diagnosable condition in some cases.
Coexistent pseudohypoparathyroidism and D brachydactyly in a family
Authors: Graudal Niels , Milman Nils , Nielsen Lillian Staub , Niebuhr Erik , Bonde Jan 
Published: July 2010

The occurrence of pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PH/PPH) and D brachydactyly (DB) in different persons in the same family is described for the first time. The theory that PH/PPH, E brachydactyly (EB), acrodysostosis (AD) and DB are variable expressions of the same trait or allelic traits is proposed. It is advised that newborn babies in such families are investigated carefully in order to exclude hypocalcemic PH. It is suggested that EB is subdivided into 4 groups (Ei‐E4) according to the degree of symptoms.The proband of this family was a unique case. In addition to normocalcemic PH she also suffered from hemochromatosis, another rare hereditary disease and she had an abnormal chromosome 20, not earlier described. Both findings were supposed to be coincidental.
Heterozygous manifestations of Langer mesomelic dysplasia
Authors: Goldblatt J. , Wallis C. , Vilioen D. , Beighton P. 
Published: July 2010

The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen‐year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia.It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer mesomelic dysplasia in the homozygote. Several relatives on both sides of the family which we studied had malformations of their forearms, in keeping with this concept. However, these anomalies differed from those of dyschondrosteosis and the classical Madelung deformity; the exact syndromic status of the heterozygous phenotype remains unsettled.
A male infant with holoprosencephaly, associated with ring chromosome 21
Authors: Aronson D. C. , Jansweijer M. C. E. , Hoovers J. M. N. , Barth P. G. 
Published: July 2010

An infant with holoprosencephaly and a karyotype 46,XY,r(21) is reported. No distinctive craniofacial features suggesting holoprosencephaly were present in this infant who presented with epilepsy, microcephaly and scoliosis with hemivertebra Th 10.This is the first report which links deletion of chromosome 2lq to the holoprosencephaly phenotype.
Osteopetrosis
Authors: Bollerslev Jens 
Published: July 2010

By a systemic search of osteopetrosis in the county of Funen, Denmark, the prevalence was 5.5/100,000 inhabitants.The study disclosed 33 patients of whom 32 had the mild, autosomal dominant form of osteopetrosis. Two obligate carriers, who had the genotype but were not phenotypically affected. were disclosed. There was a great variation in the clinical manifestations; 39% were asymptomatic. The age of first appearance of symptoms also varied widely (8–76 years), with a tendency to increasing symptoms with aging. The frequency of fractures was low.Plasma inorganic phosphate was low in 7% of the patients, and plasma acid phosphatase was increased in 39%.
Albinism, or the NOACH syndrome
Authors: Dorp D. B. van 
Published: July 2010

After a 4‐year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were examined, together with their heterozygote family members. Given this substantial patient and subject sample we were provided with the opportunity to: evaluate the results of standard diagnostic procedures, for example pedigree analysis, ocular and clinical examination; determine the diagnostic value of biochemical, and ultrastructural tests; and develop a new and viable albino diagnostic protocol, particularly for electrophysiological examination.In the conclusions the following subjects are in order: Diagnosis: Our most important finding up till now is that normally pigmented people who do not look like albinos can in fact be albinos. Differential diagnosis: It appears that patients with autosomal recessive albinism can be normally pigmented, and patients with X‐linked albinism can be severely hypopigmented. We therefore propose to abandon the terms oculo‐cutaneous albinism (OCA), and X‐linked ocular albinism (XOA), and use the terms autosomal recessive albinism, and X‐linked albinism instead. X‐linked albinism Forsius‐Eriksson type (XOAF): We assume that XOAF does not represent a true form of albinism. Classification: Our results indicate that the phenotypical albino classification, which was a base for Witkop et al. (1978) to also obtain a genetical classification, supported by the hairbulb test, has not proved to be useful for the classification of tyrosinase negative (TNOCA), tyrosinase positive oculocutaneous albinism (TPOCA), and autosomal recessive ocular albinism (AROA) as genetically distinct forms. Prevalence: Our prevalence estimate for all forms of albinism is at least 1:15,000, about 10% of the albinos have X‐linked albinism. Definition: We want to modify the albino definition as a hereditary and congenital inborn error of metabolism related to the pigment cell, and resulting in a systemic disorder that is characterized by anomalies of eyes, and hypopigmentation in most cases or absence of pigment in skin, hair, and eyes, and of which the neuro‐anatomical consequences are the most characteristic.
A final word on the tricho‐rhino‐phalangeal syndromes
Authors: Bühler E. M. , Bühler U. K. , Beutler C. , Fessler R. 
Published: July 2010

Chromosomal findings in the majority of cases of TRP II (or Langer‐Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12.A case of tricho‐rhino‐phaiangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.
Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects?
Authors: Yates J. R. W. , Ferguson‐Smith M. A. , Shenkin A. , Guzman‐Rodriguez R. , White M. , Clark B. J. 
Published: July 2010

Vitamin levels were measured in twenty women under 35 years of age with a history of two or more neural tube defect pregnancies. Each index case was compared with a female control matched for age, obstetric history and social class. The mean concentration of red cell folate in the subjects was 178 ng/ml, significantly lower than the mean of 268 ng/ml for the control group (P=0.005). Red cell folate levels showed a linear relationship with the number of neural tube defect pregnancies, the levels being lowest in women who had had three or four affected offspring. There was no significant difference in serum folate; plasma or white cell vitamin C; plasma vitamin A; thiamine, riboflavine or pyridoxine status; serum vitamin B12; plasma vitamin E; total protein, albumin, transferrin, magnesium, copper or zinc. Diet was assessed by a questionnaire. The dietary intakes of total folate and other vitamins except vitamin A were lower in the subjects than the controls but none of the differences were statistically significant. Regression analysis showed a difference between subjects and controls in the relationship of red cell folate to dietary folate.This study demonstrates an association between susceptibility to offspring with neural tube defects and depressed red cell folate levels which cannot be entirely attributed to a lower dietary intake of folate. It is postulated that one factor predisposing to the occurrence of neural tube defects may be an inherited disorder of folate metabolism.
Partial trisomy 3q syndrome inherited from familal t(3;9) (q26.1;p23)*
Authors: Tranebjærg Lisbeth , Bækmark Ulla Britt , Dyhr‐Nœlsen Margrethe , Kreiborg Sven 
Published: July 2010

A five‐year‐old girl was referred to prometaphase chromosome analysis because of mental retardation, facial dysmorphic features suggestive of Cornelia de Lange syndrome, cleft palate and additional minor congenital malformations of the cardiac System and fingers and toes. A familial balancee translocation (3;9)(q26.1;p23) was found. The karyotype of the proposita was 46,XX,der(9),t(3;9)(q26.1;p23). Thus the patient was trisomie for 3q26.1‐qter and mono‐somic for 9p23‐ptcr. The unbalanced chromosome constitution was not detected by standard Q‐banding analysis shortly after birth. The karyotype was misdiagnosed as 46,XX,9(p+) in the proposita and her mother, and thought to be a normal variant of chromosome 9. The repeated cytogenetic study led to the diagnosis of the translocation and to the possibility of prenatal diagnosis in the translocation carriers.A survey of 22 published cases of dup(3q) showed that nearly 60% were secondary to familial balanced rearrangements with an excess of maternally derived abnormal chromosomes 3. Red blood cell galactose‐ 1‐phosphate‐uridyltransferase (GALT) activity was normal in the patient, consistent with previous assignment of the gêne locus for GALT to 9pl3 (Shih et al. 1982).
Catalase and glutathione peroxidase activity in cells with trisomy 21
Authors: Crosti N. , Bajer J. , Gentile M. , Resta G. , Serra A. 
Published: July 2010

CuZnSOD is produced in overdose in cells with trisomy 21.This has been considered to be a cause of increased oxidative stress. In the present work we have studied the catalase and glutathione peroxidase activity in fibroblasts from 6, and blood cells from 30, subjects affected by Down syndrome. In the fibroblasts, catalase and glutathione peroxidase activities did not differ significantly from control cells. In platelets, lymphocytes, polymorphs and erythrocytes, no significant increase of catalase activity was found while glutathione peroxidase activity appeared significantly increased in platelets, polymorphs and erythrocytes but not in lymphocytes. These data seem to indicate that the increase of CuZnSOD in trisomy 21 cells does not affect the production of catalase. An increase, instead, of glutathione peroxidase has been detected in all blood cells, except in lymphocytes; this is a sign of a greater need for protection against the risk of lipoperoxidation. The fact that the enhancement of glutathione peroxidase activity could be assessed only in some types of cells examined suggests that the observed increase in those cells is probably a result of an additive effect of the overproduction of CuZnSOD due to gene dosage and the ordinarily higher content of oxygen radicals and peroxides.
Fragile site Xq27.3 in a family without mental retardation
Authors: Romain Dennis R. , Chapman Cyril J. 
Published: July 2010

Romain DR. Chapman CJ. Fragile site Xq27.3 in a family without mental retardation. Clin Genet 1992:41: 33–35.Routine parental blood analysis for a couple undergoing prenatal diagnosis because of maternal age, revealed a 47,XXX karyotype in the mother and expression of the fragile site Xq27.3 in the father. Additional family studies show the fragile site in the father's sister and her two sons. There is no history of intellectual handicap in this family, nor of any physical manifestations of the Fra(X) mental retardation syndrome.
Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence
Authors: Graham David A. , Jewitt Monique M. , Fitzgerald Peter H. 
Published: July 2010

Graham DA, Jewitt MM, Fitzgerald PH. Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence. Clin Genet 1992:41: 36–38.We report a patient with trisomy 18 in all peripheral lymphocytes, mosaicism in cultured fibroblasts, mild nonspecific dysmorphic features, and normal intelligence. Trisomy 18 mosaicism with complete peripheral lymphocytic trisomy has not been previously described. The karyotype of lymphocytes is not diagnostic in the absence of congruent morphologic features.
Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature
Authors: Frydman M. , Cohen H. A. , Karmon G. , Savir H. 
Published: July 2010

Frydman M, Cohen HA, Karmon G, Savir H. Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature. Clin Genet 1992:41:57–61.A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline bead circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles
Authors: Kalaydjieva L. , Dworniczak B. , Kromensky I. , Koprivarova K. , Radeva B. , Milusheva R. , Aulehla‐Scholz C. , Horst J. 
Published: July 2010

Kalaydjieva L, Dworniczak B, Kremensky I, Koprivarova K, Radeva B, Milusheva R, Aulehla‐Scholz C, Horst J. Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles. Clin Genet 1992: 41: 123–128.A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a common major PKU mutation. Some amino acid substitutions, previously reported to lead to mild phenylalanine hydroxylase deficiency, were detected in the present study in compound heterozygotes with severe PKU. These findings preclude carrier testing and hyperphe‐nylalaninemia typing by genomic analysis at least in the heterogeneous Bulgarian population.
Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita
Authors: Kehrer Hildegard , Krone Winfrid , Schindler Oetlav , Kaufmann Roland , Schrezenmeler Hubert 
Published: July 2010

Kehrer H, Krone W, Schindler D, Kaufmann R, Schrezenmeier H. Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. Clin Genet 1992: 41: 129–134.Skin fibroblast cultures from a female patient with dyskeratosis congenita revealed markedly increased frequencies of chromosomal breaks, hypodi‐ploidy, and premature centromere disjunction. The frequencies of mitotic disturbances, like ana‐ and telophase bridges, lagging chromosomes, and micronuclei were almost as dramatically elevated as in cultures from two severely affected patients with Fanconi anemia. Provided that our patient is representative for an autosomal form of dyskeratosis congenita, this type of the disease seems to be characterized by chromosomal instability with a characteristic pattern of cytogenetic abnormalities.