bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unveiling below‐ground species abundance in a biodiversity experiment: a test of vertical niche differentiation among grassland species
Authors: Mommer Liesje , Van Ruijven Jasper , De Caluwe Hannie , Smit‐Tiekstra Annemiek E. , Wagemaker Cornelis A.M. , Joop Ouborg N. , Bögemann Gerard M. , Van Der Weerden Gerard M. , Berendse Frank , De Kroon Hans 
Published: July 2010

Summary 1. Plant diversity has profound effects on primary production. Plant diversity has been shown to correlate with increased primary production in nutrient‐limited grassland ecosystems. This overyielding has been attributed to vertical niche differentiation among species below‐ground, allowing for complementarity in resource capture. However, a rigorous test of this longstanding hypothesis is lacking because roots of different species could not be distinguished in diverse communities. 2. Here, we present the first application of a DNA‐based technique that quantifies species abundances in multispecies root samples. We were thus able to compare root distributions in monocultures of two grasses and two forbs with root distributions in four‐species mixtures. In order to investigate if vertical niche differentiation is driven by soil nutrient depletion, the topsoil layer of the communities were either nutrient‐rich or ‐poor. 3. Immediately in the first year, 40% more root biomass was produced in mixtures than expected from the monocultures, together with significant below‐ground complementarity effects, probably preceding above‐ground overyielding. This below‐ground overyielding appeared not to be the result of vertical niche differentiation, as rooting depth of the community tended to decrease, rather than increase in mixtures compared to monocultures. Roots thus tended to clump in the very dense topsoil layer rather than segregate over the whole profile in mixtures. The below‐ground overyielding was mainly driven by enhanced root investments of one species, Anthoxanthum odoratum, in the densely rooted topsoil layer without retarding the growth of the other species. 4. Synthesis. Conventional ecological mechanisms, such as competition for nutrients, do not seem to be able to explain the increased root investments of A. odoratum in mixtures compared to monocultures, with apparently little effect on the root growth of the other species. Instead, the observed root responses are consistent with species‐specific root recognition responses. From a community perspective, the observed early below‐ground overyielding may initiate the recently reported increased soil organic matter, mineralization and N availability and thus may ultimately be responsible for the higher productivity at high plant species diversity.
STUDY OF A GROUP OF FAMILIAL‐CULTURAL RETARDATES SHOWING RAPID TRANSITION FROM WAKEFULNESS TO SLEEP
Authors: REISS M. , HATTORI H , HILLMAN J. C. , SIDEMAN M. B. , PLICHTA E. S. 
Published: July 2010

SUMMARYA combined study of respiratory metabolism and sleep stage according to E.E.G. pattern was made. A group of undifferentiated retardates fell asleep unusually quickly when they lay down at any time of the day. Investigations indicated that the reduction in oxygen uptake seen with deepening sleep was greater than among other young male familial cultural patients.Investigation of the urine of these patients showed that they excreted unusually high amounts of a substance that inhibits gonadotrophin action, serotonin action and spontaneous activity.
Dyschromatosis symmetrica hereditaria: report of a sporadic case
Authors: Consigli Javier , Gómez Zanni Maria S. , Ragazzini Luciana , Danielo Cristian 
Published: July 2010

AbstractA group of pigment disorders is included under the denomination of “dyschromatosis”. Dyschromatosis symmetrica hereditaria is a dominant autosomal genodermatosis mostly reported in Eastern countries. It has been rarely reported in nonoriental races and spontaneous cases are scarce. We report a spontaneous case in the West, a boy 6 years of age, with a typical presentation and who was confused initially with vitiligo.
Immunotherapy with depigmented‐polymerized mixed tree pollen extract: a clinical trial and responder analysis
Authors: Pfaar O. , Robinson D. S. , Sager A. , Emuzyte R. 
Published: July 2010

To cite this article: Pfaar O, Robinson DS, Sager A, Emuzyte R. Immunotherapy with depigmented‐polymerized mixed tree pollen extract: a clinical trial and responder analysis. Allergy 2010; 65: 1614–1621.AbstractBackground:  Rhinoconjunctivitis because of tree pollen sensitization is common in Northern Europe. Specific subcutaneous immunotherapy (SCIT) is the only disease‐modifying treatment, but unmodified allergen extracts carry a risk of allergic side‐effects. Our objective was to examine efficacy and safety of a depigmented‐polymerized mixed tree pollen extract.Methods:  A double‐blind, placebo‐controlled trial of 184 tree pollen allergic adults was performed. SCIT consisted of four increasing doses at 7‐day intervals, then maintenance injections every 6 weeks for 18 months. Primary outcome was combined symptom and medication score during the 2008 season. Secondary outcomes included analysis at different levels of pollen exposure and a responder analysis. Adverse events were classified using the EAACI scale. Birch pollen‐specific IgE and IgG4 were measured before and after treatment.Results:  The combined symptom and medication score of actively treated patients was significantly lower than those on placebo (P < 0.04). Increased efficacy was seen at high pollen exposure (median score 2.1 for active [IQR 0.7–3.4] vs 4.2 [IQR 2.4–5.3] for placebo for days with 500 or more pollen grains per m3, a 50% reduction, P < 0.01). A modified responder analysis revealed 64% responders in the active and 32% in the placebo group (P < 0.01). There were 17 systemic reactions. All were mild (grade 1 or 2) and required no treatment. Serum birch‐specific IgG4 increased in the SCIT group (P < 0.01).Conclusions:  SCIT with depigmented‐ polymerized tree pollen extract was clinically effective and well tolerated. Responder analysis suggested that one‐third of patients treated with immunotherapy may not respond.
Sphingomyelinase in cultured skin fibroblasts from normal and Niemann‐Pick type C patients
Authors: Poulos A. , Hudson N. , Ranieri E. 
Published: July 2010

The spingomyelinase activities of extracts of normal cultured skin fibroblasts were compared with those obtained from Niemann‐Pick disease Type A and B patients, and from a number of patients with a provisional clinical diagnosis of Niemann‐Pick disease Type C. Even though fibroblasts from Type A and B patients were shown to be clearly deficient (<5% residual activity) the activity in Type C fibroblasts varied from approximately 50% of the lowest control value to normal activity.Isoelectric focussing of extracts of normal cultured skin fibroblasts on polyacrylamide gels revealed the presence of sphingomyelinase heterogeneity. However, no characteristic change in the behaviour of the enzyme in corresponding extracts from Niemann‐Pick Type C cells was observed, suggesting that, if the defect in this condition is expressed in fibroblasts, it does not manifest biochemically in the appearance or disappearance of a specific sphingomyelinase isoenzyme.Our data suggest that the heterogeneity observed in fibroblast extracts may simply reflect an interaction of the enzyme either with itself or with other hydrophobic components present in the cellular extracts.
Homology between coding and noncoding sequences within the human class I HLA antigen gene
Authors: Ohno Susumu 
Published: July 2010

In our previous paper, we identified 32 recurring base oligomers (1 decamer, 4 octamers, 9 heptamers and 18 hexamers) within the coding sequence for the mouse class I major histocompatibility (MHC) antigen H‐2Kb. The compilation of these recurring base oligomers led to the conclusion that the entire ancestral coding sequence for class I MHC antigens evolved from tandem repeats of the one 45 base‐long primordial building block base sequence.As with most other mammalian genes, the gene for each class I MHC antigen is an admixture of coding and noncoding segments interspersed with each other. Thus, the status of noncoding segments should be clarified in relation to the concept of the primordial building block. The published 4,122 base‐long sequence of human pHLA 12.4 germline gene afforded me an opportunity for clarification. Since the number of recurring base oligomers residing within the entire 4,000 +base‐long sequence proved unmanageably numerous, the two portions 1,200 bases in the total length were singled out. Within these portions containing five noncoding and four coding segments, noncoding and coding segments shared 1 nonomer, 3 octamers, 6 heptamers and 5 hexamers; all the above‐noted base oligomers were derived from different parts of the same 45 base‐long primordial building block. It was thus concluded that not only the coding segments, but the entire ancestral gene for class I MHC antigens evolved from tandem repeats of the 45‐base‐long primordial building block. This new concept of primordial building block was discussed in relation to the mechanism of evolution by gene duplication.
Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns
Authors: Fryns J. P. , Petit P. , Klechzkowska A. , Berghe H. van den 
Published: July 2010

An isodicentic X‐chromosome (idic(X)(pterq23::q23pter)) was found in a phenotypically normal 30‐year‐old female with symptoms of premature menopause.A study of DNA replication reveled that in a proportion of cells there was aasymmetric pattern of replication. The region with the inactive centromere had a tendency to replicate later that the portion with the functioning centromer.
A new from of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts
Authors: Hechtman P. , Khoo K. , Isaacs C. 
Published: July 2010

Fibrolast cells lines obtained from five patients with the early onset form of Tay Sachs disease (TSD) possess a species of β‐N‐acetylhexosaminidase (Hex) which is more anionic than Hex B but which is stable to heating under conditions which completely inactivate Hex A. This speices, which comprised between 3 and 20% of th total hexosaminidase acitivity in homozygous TSD fibroblasts, appeared to be unstable and upon isoelectric focussing produced a mixture of Hex B (pI=7.2) and an isozayme with a pI of 6.2.This intermediate form of hexosaminidase was not seen in two normal fibroblast cell lines but was observed following anion exchange chromatography of extracts of fibroblast cell lines obtained from two obligate heterozygotes.A species of hexosaminidase with the same chromatographic properties, thermostability and isoelectric point as the intermediate form found in fibroblasts with the TSD genotypes can be recovered after anion exchange chromatography of a partially purified preparation of human liver Hex A that had been treated with merthiolate.We hypothesize that in TSD cells a form of the β subunit which is usually incorporated into Hex A accumulates due to the absence of a subunits. This form of the β subunit is more anionic than the β subunit found in Hex B. In the absence of α subunits these anionic β subunits form tetramers with a pI = 6.2. This form of the enzyme is unstable in the presence of cellular proteases and may be modified to Hexosaminidase B.
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity
Authors: Norio Reuo , Raitta Christina , Lindahl Elina 
Published: July 2010

Six new patients with the Cohen syndrome are reported from Finland and 25 published cases from elsewhere are reviewed. New findings are consanguinity among two pairs of parents, granulocytopenia, and marked ophthalmological changes: decreased visual acuity, hemeralopia, constricted visual fields, chorioretinal dystrophy with bull's‐eye‐like maculae and pigmentary deposits, optic atrophy, and isoelectric electroretinogram. Previously known features of the Cohen syndrome (non‐progressive mental retardation, short stature, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.The ophthalmological features merit attention in the previous and future suspected cases of the Cohen syndrome. Autosomal recessive inheritance can be taken for granted.
The NEU‐COFS (cerebro‐oculo‐facio‐skeletal) syndrome: report of a case
Authors: Silengo M. C. , Davi G. , Bianco R. , Biagioli M. , Franceschini P. , Cavallo M. , Bussi G. 
Published: July 2010

A newborn female with a phenotype intermediate between the Neu and the COFS syndromes is described.The hypothesis of the two conditions representing different degrees of severity of the same autosomal recessive mutation in the homozygote state is discussed.
The use of structured scenarios in genetic counselling
Authors: Arnold J. R. , Winsor E. J. T. 
Published: July 2010

Nineteen women at risk of bearing a child with either Duchenne muscular dystrophy or a neural tube defect participated in a structured scenario study. Eight scenarios were created to allow the women to “try out” possible reproductive outcomes.Our findings suggest that the use of scenarios may be helpful in reproductive counselling, particularly for those women who have difficulty discussing emotional issues.
Interstitial deletion of chromosome 1 (q23–25). Report of a case
Authors: Silengo Margherita Cirillo , Davi G. F. , Bianco R. , Biagioli M. , Guala A. , Franceschini P. , Novelli G. 
Published: July 2010

We describe a 3‐month‐old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23–25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease.The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1q deletion syndrome.
Selection against genetic defects in semen donors
Authors: Smith P. E. 
Published: July 2010

Artificial insemination donor selection requires predicting which men are likely to beget the healthiest offspring. Methods are developed for calculating the “offspring excess recurrence risk”, /IR, for an anomaly in the offspring of an afflicted father. Mainly from published family survey and population data AK is computed for 38 disorders. From a small survey a value for the with‐treatment “affliction burden”, B., is assigned to each anomaly. For each disorder the “offspring excess burden expectation” is z!RB,.Defects such as cataract, hereditary Parkinson disease, psoriasis, seropositive rheumatoid arthritis, and schizophrenia have such a high zIRB, that they are individually sufficient cause for rejecting a donor candidate. A candidate may be rejected because of a combination of lesser defects with E JRB, exceeding an acceptable limit. A limit should also be placed on B., because the affliction burden for Tay‐Sachs disease or cystic fibrosis is intolerable, however infrequent.Most of the important hereditary defects are late onset, and for the older donor the opportunity to select more directly against late‐onset disorders offsets the added risk of newly‐arising gene mutations.The most careful donor selection cannot completely eliminate the risk of a child inheriting some disorder, but selection can reduce the average total burden by as much as 17%.
Non‐progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity
Authors: DANESINO C. , 'AZZO ALESSANDRA , ARICA M. , PODESTA A. F. , BELUFFI G. , BIANCHI ELENA 
Published: July 2010

Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. Twelve years of follow up did not show any signs of decerebration or further intellectual decline; only speech was, and still is, absent.The reduced ARSA activity in leukocytes and fibroblasts of the father of the propositus suggests that he is heterozygote and that the ARSA deficiency of the propositus is inherited. The ARSA activity of the mother overlaps with the lowest control. The assumption that the mother is a carrier of different mutations could explain the discrepancy between the clinical and biochemical findings of the patient.This is a further family in which mutations other than the typical one can be postulated to explain variable clinical or biochemical pictures of MLD.
Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**
Authors: Vogel F. 
Published: July 2010

Heterozygotes of autosomal‐recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong minority fitness of heterozygotes is increased. This review will be devoted to a consideration of the extent to which heterozygotes for a wide variety of nominally recessive diseases are subject either to an increased liability for common diseases or slight shifts of behavioral characteristics. The available evidence has been collected and will be discussed in three steps:1. Most studies are available for phenylketonuria. For this group of diseases, a slight reduction of average ‐ especially verbal ‐ I.Q. in heterozygotes has been reported together with signs of a slightly increased cerebral irritability, a possible slight increase of risk for mental disease, and an increase of blood phenylalanine levels in stress situations. The PKU example is used to discuss methodological problems involved in such studies.2. Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia‐teleangiectasia (increased cancer risk).3. Since heterozygotes for autosomal recessive diseases are common, it is possible that an appreciable fraction of “multifactorial” genetic liabilities for common, “constitutional” or mental disease might simply be due to heterozygosity for genes whose homozygous affects are already well known. By the same token, much of the “normal” genetic variability influencing cognitive performance (I.Q.) ‐ especially in the lower range ‐ and personality characteristics could also be caused by recessive genes in the heterozygous state.
Chromosome fragility in Alzheimer's disease
Authors: Smith Arabella , Broe G. A. , Williamson Michael 
Published: July 2010

We present cytogenetic findings for 12 patients with Alzheimer's Disease (AD) mean age 75.8 ± 6.01 years and 35 normal age and sex matched controls (mean age 74.8 ± 4.04 years). The study, undertaken due to reports of increased fragments and chromosome breakage in individuals with AD, was performed blind on coded peripheral blood specimens and the allocation of AD or control was not known to the cytogenetic staff until the end of the study. Both the AD group and the controls have been very carefully selected and both underwent the same clinical assessment and screening procedures which included CT scanning.Chromosomes were analysed after 72 h cultures, using deprived medium TC199 which is known to enhance the appearance of fragile sites. A minimum of 50 cells was examined in each case and any rearrangement found was classified as ctg, csg, ctb, csb and the chromosome in which it occurred was recorded. Analysis of results showed that there was no statistically significant difference between the AD group and the controls for either the total occurrence of breaks, the type of aberration or the chromosome(s) involved. In both groups the commonest break was in 3p.
Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion
Authors: Stabile M. , Cavaliere M. L. , Scarano G. , Fels A. , Valianl R. , Ventruto V. 
Published: July 2010

A family with Moebius syndrome is presented. Neurological lesions in the affected members are various: complete VI and VII cranial nerves palsy associated with mental retardation in the proband; left convergent strabismus and mental retardation in a brother of the proband and only mental retardation in a sister of the proband. The brainstem auditory evoked potentials (B. A.E.P.), investigated in the proband and his affected sister, are abnormal. The presence of the anomaly after the 3rd wave is consistent with a disfunction of the auditory tract at a supranuclear level. The mental deficiency and the supranuclear site of the acoustic lesion are an indication for a more general involvement of C.N.S. than cranial nerve nuclei alone.Karyotype and dermatoglyphics of the three affected subjects were normal. The authors hypothesized the same disorganogenetic factor acting very early (4th‐6th week of gestational age) on the metamerization process of limb buds mesoderm and brainstem gray matter.
Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome
Authors: Haspeslagh M. , Fryns J. P. , Mûelenaere A. de , Schautteet L. , Eeckhoutte I. van , Berghe H. van den 
Published: July 2010

During a systematic survey of the mentally retarded, 3 related females were seen with a similar syndrome of shortness, unusual combination of craniofacial anomalies (trigonocephaly; bulging forehead; flat face; posteriorly angulated, lowset ears and microretrognathia), and genital hypoplasia in all 3 cases, and multiple pterygia in one.The facial changes were also noted in 2 grandmothers and may indicate autosomal dominant inheritance of this presently “private” MCA/MR syndrome.
Accumulation and defective β‐oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants
Authors: Poulos A. , Singh H. , Paton B. , Sharp P. , Derwas N. 
Published: July 2010

The accumulation of very long chain fatty acids in plasma and skin fibroblasts was measured in at least four separate inherited disease states. Both the magnitude and the nature of the fatty acid changes reflected the clinical status of individual patients. In Zellweger's syndrome, and to a lesser extent in infantile Refum's disease, there was an increase in 24:0, 26:0, 26:1, and a number of even longer chain fatty acids, while in the X‐linked form of adrenoleukodystrophy these changes were less pronounced.Zellweger fibroblasts in culture took up lignoceric, phytanic and stearic acids and incorporated them into a variety of lipids in a manner comparable to control fibroblasts. However, these cells were unable to convert phytanic or lignoceric acid to CO2. Infantile Refsum's and X‐linked adrenoleukodystrophy fibroblasts showed normal conversion of these acids to CO2. Normal fibroblast homogenates produced radioactive acetate from [1‐14C] stearic and [1‐14C] lignoceric acids indicating that both substrates were β‐oxidised under these conditions. Homogenates of fibroblasts from all patients with biochemical evidence of accumulation of very long chain fatty acids showed normal or near‐normal stearic acid β‐oxidation, but were deficient in lignoceric acid β‐oxidation. Residual lignoceric acid β‐oxidation activity varied from approximately 15% in Zellweger syndrome up to 50% in X‐linked adrenoleukodystrophy.It is postulated that the accumulation of very long chain fatty acids results from defects in peroxisomal β‐oxidation. In Zellweger's syndrome, and possibly in infantile Refsum's disease, it is probable that this defect is secondary to a primary abnormality affecting the structure and/or function of peroxisomes, while the primary defect in X‐linked adrenoleukodystrophy may be confined to a pathway specific for the oxidation of very long chain fatty acids.