bluuebunny/crossref_metadata_2025 huggingface dataset:
Assessment of Plant‐Available Potassium for No‐Till, Rainfed Soybean
Authors: Fernández Fabián G. , Brouder Sylvie M. , Beyrouty Craig A. , Volenec Jeffrey J. , Hoyum Raymond
Published: June 2008

Temporal and spatial availability of K can influence soybean [Glycine max (L.) Merr.] productivity. This study quantified the impact of initial soil K concentrations, soil‐water content, and soybean K uptake on soil K pools (water‐extractable solution‐phase K [Ksol], 1 mol L−1 NH4OAc‐extractable K, referred to as exchangeable K (Kexch), and 5‐min sodium tetraphenylboron [NaTPB] extractable K [KTPB]) and compared predictions of plant K availability using the NaTPB vs. NH4OAc tests. Soil and soybean samples were collected five times between the VE and R6 development stages in 2003 and 2004 from fallow and cropped no‐till Toronto–Millbrook silt loam Alfisols at the Throckmorton Purdue Agricultural Center. Gravimetric soil water content was measured weekly during the growing season. Low‐, medium‐, and high‐K fertility plots were replicated four times. Initial Kexch levels ranged from 60 to 290 and from 50 to 90 mg kg−1 at the 0‐ to 10‐ and 10‐ to 20‐cm depths, respectively. Medium‐ and high‐fertility soils had the highest grain yields. The 0‐ to 5‐cm soil layer had the highest Kexch levels, water availability, and soybean K uptake. Compared with Kexch, Ksol levels were less stratified and the surface layer was less dynamic. The NaTPB extraction was a better predictor of soybean K uptake in 1 yr, but across both years, NH4OAc was superior. Potassium measurements in the 0‐ to 10‐cm soil layer provided slightly better estimates of plant K uptake than those in the 0‐ to 20‐cm layer. Greater water availability and K uptake in the 0‐ to 5‐cm soil layer suggest that under evenly distributed, intermittent rainfall conditions in somewhat poorly drained soils, vertical soil K stratification might not be a concern for no‐till soybean production.
Spatial Behavior of Phosphorus and Nitrogen in a Subtropical Wetland
Authors: Grunwald S. , Reddy K. R.
Published: June 2008

Complex spatial patterns of biogeochemical properties such as soils are generated in wetlands as a result of internal cycling of nutrients, natural forcing functions (e.g., hydrologic flow paths), and anthropogenic impacts (e.g., nutrient inputs). To preserve ecosystem health and the functions of a wetland ecosystem, it is critical to maintain a soil nutrient status that resembles natural reference conditions and to preserve biogeochemical variability. We investigated the spatial behavior of total P (TP) and total N (TN) in a subtropical wetland in Florida that historically has been impacted by nutrient influx. Our specific objectives were to: (i) assess the spatial autocorrelation structure and spatial variability of TP and TN across a subtropical wetland given a dense observation set (n= 266); and (ii) assess the information loss associated with underlying spatial autocorrelations and spatial variability in TP and TN under various scenarios of reduced sampling densities (n= 175–50). Both properties showed contrasting spatial metrics with long spatial autocorrelations for TP (7240 m) and much shorter ones for TN (1007 m). The contrasting spatial metrics of TP and TN along trajectories of sparser observation sets translated into different responses in spatial patterns that disintegrated dramatically for TN and less so for TP when compared with the reference set (n= 266). In this subtropical wetland, a sampling set ofn> 75 (0.036 samples ha−1) for TP andn> 125 (0.0260 samples ha−1) for TN yielded satisfactory results to resemble spatial patterns of the reference set. This study provided insight into the spatial behavior and patterns of two important soil nutrients in wetlands.
Potential Benefits of Peroxynitrite
Authors: Nossaman Bobby D. , Kadowitz Philip J.
Published: June 2008

Peroxynitrite (PN) is generated by the reaction of nitric oxide (NO) and superoxide in one of the most rapid reactions
in biology. Studies have reported that PN is a cytotoxic molecule that contributes to vascular injury in a number of
disease states. However, it has become apparent that PN has beneficial effects including vasodilation, inhibition of platelet
aggregation, inhibition of inflammatory cell adhesion, and protection against ischemia/reperfusion injury in the heart. It is
our hypothesis that PN may serve to inactivate superoxide and prolong the actions of NO in the circulation. This manuscript
reviews the beneficial effects of PN in the cardiovascular system.
The Ability of Heart Failure Specialists to Accurately Predict NT-proBNP Levels Based on Clinical Assessment and a Previous NT-proBNP Measurement
Authors: Sedlak Tara L , Chandavimol Mann , Calleja Anna , Clark Catherine , Edmonds Margaret , Pu Aihua , Humphries Karin H , Ignaszewski Andrew
Published: June 2008

Background:

The value of routine aminoterminal pro type B natriuretic peptide (NT-proBNP) measurements in outpatient clinics remains unknown.

Objectives:

We sought to determine the accuracy with which heart failure (HF) specialists can predict NT-proBNP levels in HF outpatients based on clinical assessment.

Methods:

We prospectively studied 160 consecutive HF patients followed in an outpatient multidisciplinary HF clinic. During a regular office visit, HF specialists were asked to estimate a patient’s current NT-proBNP level based upon their clinical assessment and all available information from their chart, including a previous NT-proBNP level (if available). NT-proBNP estimations were grouped into prognostic categories (<125, 125-1000, 1000-4998, or ≥4999 pg/mL) and comparisons made between actual and estimate values.

Results:

Overall, HF specialists estimated 67.5% of NT-proBNP levels correctly. After adjusting for clinical characteristics, knowledge of a prior NT-proBNP measurement was the only significant predictor of estimation accuracy (p=0.01). Compared to patients with a prior NT-proBNP level <125 pg/mL, physicians were 95% less likely to get a correct estimation in patients with the highest prior NT-proBNP level (≥4999 pg/mL).

Conclusion:

HF specialists are reasonably accurate at estimating current NT-proBNP levels based upon clinical assessment and a previous NT-proBNP level, if those levels were < 4999 pg/mL. Likely, initial but not routine NT-proBNP measurements are useful in outpatient HF clinics.
What Balances the Decrease in Net Upward Thermal Radiation at the Surface in Climate Change Experiments?
Authors: Storch Jin-Song von , Botzet Michael , Ehlert Iris
Published: June 2008

The direct response of surface fluxes to an increase in green house gas concentration is a decrease in net upward long-wave radiation (NLW). This paper examines the responses of the other three surface fluxes, i.e. the latent heat flux (HL), the sensible heat flux (HS) and the net short wave radiation (NSW), using a set of IPCC AR4 climate experiments performed with the coupled ECHAM5/MPI-OM AO-GCM. In particular, the questions of whether and how these fluxes compensate the warming effect due to a decrease in upward NLW are studied.

Consistent with the earlier studies, the decrease in upward NLW is strongly compensated by an increase in upward HL. By using the IPCC scenarios and a coupled AO-GCM, two new aspects of this compensation are identified. First, the degree of compensation decreases with the rate of increase in GHG concentration. Secondly, the compensation does not work over the North Atlantic, where the decrease in upward NLW develops parallel to a reduction in upward HL. This leads to large increases in the net downward heat flux over the North Atlantic and a reduction of the MOC. The responses in HS and NSW can further strengthen or suppress the warming effect of NLW, depending on geographical regions considered. There is a general tendency that HS changes in the same direction as NLW over sea, but in the opposite direction over land. For NSW, the response strengthens the NLW changes over land and suppresses the NLW changes over sea.
Associations of Renal Vascular Resistance With Albuminuria and Other Macroangiopathy in Type 2 Diabetic Patients
Authors: Hamano Kumiko , Nitta Ai , Ohtake Takayasu , Kobayashi Shuzo
Published: June 2008

OBJECTIVE—Albuminuria can be caused by endothelial dysfunction as a result of ischemic nephropathy rather than classic diabetic nephropathy. We studied whether renal vascular resistance (resistive index [RI]) of the main renal arteries could be associated with albuminuria and further assessed the relationship between RI and aorta stiffness measured by brachial-ankle pulse-wave velocity (baPWV).

RESEARCH DESIGN AND METHODS—We consecutively studied 150 patients with type 2 diabetes and the absence of clinically overt renal artery stenosis. Renal function expressed as the estimated glomerular filtration rate (eGFR) was calculated using the modified formula of modification of diet in renal disease (MDRD). The RI [(peak systolic velocity –end-diastolic velocity)/peak systolic velocity] was measured with duplex Doppler ultrasonography.

RESULTS—When the presence of albuminuria (uAlb) was defined as urinary albumin-to-creatinine ratio (μg/mg · creatinine) >30, mean RI [(left RI + right RI)/2] was significantly higher in uAlb, compared with that in patients without uAlb. RI had significant associations with age (r = 0.398, P < 0.0001), diastolic blood pressure (r = −0.398, P < 0.0001), eGFR (r = −0.373, P < 0.0001), and baPWV (r = 0.223, P < 0.05), respectively. Multivariate logistic regression analysis showed that increased RI when defined as RI >0.72 (median) was significantly associated with age (P < 0.01, 95%CI 1.02–1.19), diastolic blood pressure (P < 0.01, 0.86–0.97), and uAlb (P < 0.01, 1.53–15.46), respectively. Moreover, RI was an independent risk factor for uAlb after adjustment of both diastolic blood pressure and eGFR.

CONCLUSIONS—Renal vascular resistance was associated with albuminuria and aorta stiffness. Increased RI may imply the presence of any type of underlying renal damage, including ischemic nephropathy.
Pragmatist Conception of Participatory Democracy1
Authors: Višňovský Emil
Published: June 2008

Pragmatist Conception of Participatory Democracy1

The paper considers the issue of participatory democracy which has recently got high in the European integration agenda. In the history of ideas, however, it has been a controversial as well as neglected idea associated mostly with Rousseauian and Leftist models of democracy. The autor points to the key features of participatory democracy such as the idea of self-mastery. The philosophical idea of participation lies at the heart of the pragmatist conception of democracy as developed by J. Dewey. Its functioning may be illustrated by the concept of "democratic normative community". This conception of participatory democracy as a broad social rather than a narow political phenomenon provides the framework that makes it both a vital ideal and a creative task for current global as well as local efforts to bring about the sociopolitical change.
Entropy Generation and Human Aging: Lifespan Entropy and Effect of Physical Activity Level
Authors: Silva Carlos , Annamalai Kalyan
Published: June 2008

The first and second laws of thermodynamics were applied to biochemical reactions typical of human metabolism. An open-system model was used for a human body. Energy conservation, availability and entropy balances were performed to obtain the entropy generated for the main food components. Quantitative results for entropy generation were obtained as a function of age using the databases from the U.S. Food and Nutrition Board (FNB) and Centers for Disease Control and Prevention (CDC), which provide energy requirements and food intake composition as a function of age, weight and stature. Numerical integration was performed through human lifespan for different levels of physical activity. Results were presented and analyzed. Entropy generated over the lifespan of average individuals (natural death) was found to be 11,404 kJ/ºK per kg of body mass with a rate of generation three times higher on infants than on the elderly. The entropy generated predicts a life span of 73.78 and 81.61 years for the average U.S. male and female individuals respectively, which are values that closely match the average lifespan from statistics (74.63 and 80.36 years). From the analysis of the effect of different activity levels, it is shown that entropy generated increases with physical activity, suggesting that exercise should be kept to a “healthy minimum” if entropy generation is to be minimized.
Effective DNA Inhibitors of Cathepsin G by In Vitro Selection
Authors: Gatto Barbara , Vianini Elena , Lucatello Lorena , Sissi Claudia , Moltrasio Danilo , Pescador Rodolfo , Porta Roberto , Palumbo Manlio
Published: June 2008

Cathepsin G (CatG) is a chymotrypsin-like protease released upon degranulation of neutrophils. In several inflammatory and ischaemic diseases the impaired balance between CatG and its physiological inhibitors leads to tissue destruction and platelet aggregation. Inhibitors of CatG are suitable for the treatment of inflammatory diseases and procoagulant conditions. DNA released upon the death of neutrophils at injury sites binds CatG. Moreover, short DNA fragments are more inhibitory than genomic DNA. Defibrotide, a single stranded polydeoxyribonucleotide with antithrombotic effect is also a potent CatG inhibitor. Given the above experimental evidences we employed a selection protocol to assess whether DNA inhibition of CatG may be ascribed to specific sequences present in defibrotide DNA. A Selex protocol was applied to identify the single-stranded DNA sequences exhibiting the highest affinity for CatG, the diversity of a combinatorial pool of oligodeoxyribonucleotides being a good representation of the complexity found in defibrotide. Biophysical and biochemical studies confirmed that the selected sequences bind tightly to the target enzyme and also efficiently inhibit its catalytic activity. Sequence analysis carried out to unveil a motif responsible for CatG recognition showed a recurrence of alternating TG repeats in the selected CatG binders, adopting an extended conformation that grants maximal interaction with the highly charged protein surface. This unprecedented finding is validated by our results showing high affinity and inhibition of CatG by specific DNA sequences of variable length designed to maximally reduce pairing/folding interactions.
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS‐based heterotopic ossification
Authors: Adegbite N.S. , Xu M. , Kaplan F.S. , Shore E.M. , Pignolo R.J.
Published: June 2008

Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation. However, occasional patients with AHO and pseudohypoparathyroidism 1a/c (PHP1a/c; AHO features plus hormone resistance) have also been described who have progressive HO. This study was undertaken to define the diagnostic and mutational spectrum of POH and progressive disorders of HO, and to distinguish them from related disorders in which HO remains confined to the skin and subcutaneous tissues. We reviewed the charts of 111 individuals who had cutaneous and subcutaneous ossification. All patients were assessed for eight characteristics: age of onset of HO, presence and location of HO, depth of HO, type of HO, progression of HO, features of AHO, PTH resistance, and GNAS mutation analysis. We found, based on clinical criteria, that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS‐inactivating conditions associated with extra‐skeletal ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype‐phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non‐progressive forms (osteoma cutis, AHO, and PHP1a/c). © 2008 Wiley‐Liss, Inc.
Autosomal recessive acro‐fronto‐facio‐nasal dysostosis associated with genitourinary anomalies: A third case report
Authors: Chaabouni Myriam , Maazoul Faouzi , Hamida Amira Ben , Berhouma Moncef , Marrakchi Zahra , Chaabouni Habiba
Published: June 2008

We report on a 22‐day‐old Tunisian boy born to consanguineous (first‐cousin) parents (F = 1/16). The patient presents wide forehead with frontal encephalocele, wide anterior fontanel, marked hypertelorism, coloboma of the upper lids, proptosis, congenital glaucoma, broad nose, syndactyly between fingers 3 and 4, hypoplastic 3rd, 4th and 5th toes with nail dysplasia, hypospadias with cleft glans, bifid scrotum. Brain MRI showed right frontal encephalocele with anomalies of the cortical gyration without any corpus callosum abnormality. Normal chromosomes and parents' consanguinity are suggestive of autosomal recessive inheritance. Facial midline anomalies associated with limb and genitourinary anomalies is very uncommon. We present the third case reported in the literature. © 2008 Wiley‐Liss, Inc.
Prenatal cortical hyperostosis with COL1A1 gene mutation
Authors: Kamoun‐Goldrat Agnès , Martinovic Jelena , Saada Julien , Sonigo‐Cohen Pascale , Razavi Ferechte , Munnich Arnold , Le Merrer Martine
Published: June 2008

Infantile cortical hyperostosis (Caffey disease) is benign and self‐limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21‐year‐old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical hyperostosis in affected bones. A missense mutation (3040C → T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C → T mutation can also be found in lethal prenatal cortical hyperostosis. © 2008 Wiley‐Liss, Inc.
Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring
Authors: Spinner Nancy B. , Saitta Sulagna C. , Delaney Daniel P. , Colliton Raymond , Zderic Stephen A. , Ruchelli Eduardo , Zackai Elaine , Kolon Thomas F.
Published: June 2008

We present a newborn infant with ovotesticular disorder of sex development and sex chromosome mosaicism with a supernumerary ring(Y), and a normal female cell line (47,XXr(Y)[10]/46,XX[40]. The ring (Y) was inherited from the child's father, and was transmitted following assisted reproductive technology and intracytoplasmic sperm injection (ICSI). The father presented with infertility and oligospermia, but cytogenetic analysis had not been carried out as part of the infertility workup. The Y containing cell line had not been seen on amniocentesis, which had shown a 46,XX apparently normal female karyotype in all cells studied. Molecular analysis using polymorphic probes from the X chromosome demonstrated that the 47,XXr(Y) cell line in the child was consistent with inheritance from the father, following meiosis I paternal non‐disjunction. This report underscores the need to obtain chromosome analysis in couples with infertility who undergo assisted reproduction. © 2008 Wiley‐Liss, Inc.
The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms
Authors: Tam Elaine , Young Edwin J. , Morris Colleen A. , Marshall Christian R. , Loo Wayne , Scherer Stephen W. , Mervis Carolyn B. , Osborne Lucy R.
Published: June 2008

Williams–Beuren syndrome (WBS) is caused by a ∼1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv‐1, exists as a polymorphism but was also found in individuals with WBS‐like features but no deletion, suggesting it could cause clinical symptoms. We performed a full clinical, developmental and genetic assessment of two previously reported individuals with clinical symptoms and WBSinv‐1 but no 7q11.23 deletion. We also examined expression of genes at 7q11.23 in individuals in the general population who have WBSinv‐1. We show that individuals with clinical symptoms and WBSinv‐1 do not show significant clinical or psychological overlap with individuals with WBS. In addition, a 1.3 Mb duplication of part of the velocardiofacial syndrome region on chromosome 22q11.2 was found in one participant with WBSinv‐1 and clinical symptoms. We also demonstrate that individuals with WBSinv‐1 show normal expression of genes from the WBS region. These results suggest that WBSinv‐1 does not cause clinical symptoms and we advise caution when diagnosing individuals with atypical presentation of rare syndromes. Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features. © 2008 Wiley‐Liss, Inc.
Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia
Authors: Stamm Demetra S. , Aylsworth Arthur S. , Stajich Jeffrey M. , Kahler Stephen G. , Thorne Leigh B. , Speer Marcy C. , Powell Cynthia M.
Published: June 2008

Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is ∼2:10,000; however, birth incidence remains unknown. © 2008 Wiley‐Liss, Inc.
A new osteogenesis imperfecta with improvement over time maps to 11q
Authors: Kamoun‐Goldrat Agnès , Pannier Stéphanie , Huber Céline , Finidori Georges , Munnich Arnold , Cormier‐Daire Valérie , Le Merrer Martine
Published: June 2008

Osteogenesis imperfecta (OI) is basically divided into four clinical types, I–IV. Type IV clearly represents a heterogeneous group of disorders. Here we describe two OI patients in the same family. They would typically be classified as having type IV, but are distinguishable from other OI type IV patients by the improving and resolving course of their disease. Mutation screening did not identify mutations affecting glycine codons or splice sites in the coding regions of the two collagen I genes. Genome‐wide screening of DNA samples from the two homozygous patients identified one region of high concordance of homozygosity on chromosome 11 on the long arm (11q23.3–11q24.1). © 2008 Wiley‐Liss, Inc.
Humero‐radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs
Authors: Guilherme Romain , Baumann Clarisse , Garel Catherine , Huten Yolène , Oury Jean‐François , Delezoide Anne‐Lise
Published: June 2008

We report on two male sib fetuses with humero‐radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with previous cases of humero‐radial synostosis as a prominent manifestation and with the X‐linked lissencephaly with ambiguous genitalia syndrome (X‐LAG). To our knowledge, this combination of anomalies has never been described before, and we propose that this disorder comprises a new humero‐radial synostosis syndrome with an autosomal recessive or X‐linked pattern of inheritance. © 2008 Wiley‐Liss, Inc.
Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
Authors: Kantarci Sibel , Ragge Nicola K. , Thomas N. Simon , Robinson David O. , Noonan Kristin M. , Russell Meaghan K. , Donnai Dian , Raymond F. Lucy , Walsh Christopher A. , Donahoe Patricia K. , Pober Barbara R.
Published: June 2008

Donnai–Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4‐bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother carried only wild‐type LRP2 alleles. This is the first case of DBS/FOAR resulting from uniparental disomy (UPD) and the fourth published case of any paternal UPD 2 ascertained through unmasking of an autosomal recessive disorder. The absence of clinical symptoms above and beyond the classical phenotype in this and the other disorders suggests that paternal chromosome 2 is unlikely to contain imprinted genes notably affecting either growth or development. This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders. © 2008 Wiley‐Liss, Inc.
Czech dysplasia: Report of a large family and further delineation of the phenotype
Authors: Tzschach Andreas , Tinschert Sigrid , Kaminsky Elke , Lusga Eugen , Mundlos Stefan , Graul‐Neumann Luitgard M.
Published: June 2008

Czech dysplasia (OMIM 609162) is a recently delineated COL2A1 disorder characterized by early‐onset progressive pseudorheumatoid arthritis, platyspondyly, short third and fourth metatarsals, normal height, and the absence of ophthalmological problems or cleft palate. Czech dysplasia is caused by a specific missense mutation (R275C, c.823C > T) in the triple helical domain of the COL2A1 gene. We report on a large family with 11 patients with typical Czech dysplasia and sensorineural hearing loss. Hearing loss has hitherto not been considered as a major manifestation of Czech dysplasia. Mutation analysis documented the COL2A1 c.823C > T (R275C) mutation in all affected individuals. Thus, Czech dysplasia is possibly caused exclusively by the R275C mutation, which is a unique situation among the COL2A1 disorders. The family provides further evidence for the remarkably uniform manifestation of the clinical and radiological abnormalities and adds hearing loss to the list of major anomalies of Czech dysplasia. © 2008 Wiley‐Liss, Inc.
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome
Authors: Bélien Valérie , Gérard‐Blanluet Marion , Serero Stéphane , Le Dû Nathalie , Baumann Clarisse , Jacquemont Marie‐Line , Dupont Céline , Krabchi Kada , Drunat Séverine , Elbez Annie , Janaud Jean‐Claude , Benzacken Brigitte , Verloes Alain , Tabet Anne‐Claude , Aboura Azzedine
Published: June 2008

Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the ∼60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3‐month‐old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11–154H4 + , TBX1‐). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q. © 2008 Wiley‐Liss, Inc.
Filippi syndrome: Further clinical characterization
Authors: Battaglia Agatino , Filippi Tiziana , Pusceddu Silvia , Williams Charles A.
Published: June 2008

We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre‐ and post‐natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the GJA1 (Cx43) gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome. © 2008 Wiley‐Liss, Inc.
Sensorineural deafness, distinctive facial features, and abnormal cranial bones: A new variant of Waardenburg syndrome?
Authors: Gad Alona , Laurino Mercy , Maravilla Kenneth R. , Matsushita Mark , Raskind Wendy H.
Published: June 2008

The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1–4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial‐deafness‐hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. © 2008 Wiley‐Liss, Inc.
Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)
Authors: Digilio M. Cristina , Calzolari Flaminia , Capolino Rossella , Toscano Alessandra , Sarkozy Anna , de Zorzi Andrea , Dallapiccola Bruno , Marino Bruno
Published: June 2008

The oculo–auriculo–vertebral spectrum (OAVS) is a non‐random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebral malformations. Congenital heart defects (CHDs) have been reported in 5–58% of the patients. We analyze the frequency and anatomic features of CHD in a series of 87 patients with OAVS examined between January 1990 and February 2007 with normal chromosomes, ranging in age between 0.1 and 16.8 years. A twin pregnancy occurred in eight cases (dizygotic in six cases and monozygotic in two). CHDs were diagnosed in 28/87 (32%) patients, and classified into categories of postulated developmental mechanisms including 9 (32%) atrial and ventricular septal defects, 11 (39%) conotruncal defects, 4 (14%) targeted growth defects, two (7%) with situs and looping defects, one (4%) with a left‐sided obstructive lesion and one (4%) with patent ductus arteriosus. As noted in other series, the most common individual CHDs were ventricular septal defect (six patients) and tetralogy of Fallot (TOF) (classic or with pulmonary atresia) (six patients). Comparing the frequencies of CHDs groups observed in the OAVS patients with the findings of the Emilia‐Romagna Registry which ascertained CHDs prevalence in the general population, conotruncal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS. © 2008 Wiley‐Liss, Inc.
Mycophenolate mofetil embryopathy may be dose and timing dependent
Authors: Ang Ghee Soon , Simpson Sheila A. , Reddy Aravind R.
Published: June 2008

Mycophenolate mofetil (MMF) is an immunosuppressive agent that has now been recognized as teratogenic in humans. A pattern of malformations from in utero exposure to MMF has recently been described, and includes cleft lip and palate, microtia and atresia of the external auditory canal. We present a nulliparous mother who had taken MMF for recurrent erythema multiforme for the first 5 weeks of her pregnancy, and developed a spontaneous miscarriage during the seventh week of pregnancy. For her second pregnancy, she took MMF on her own accord for four days in the seventh week after her last menstrual period. The newborn had bilateral microtia, absence of the external auditory canals, and right iris and chorioretinal coloboma, consistent with the pattern recognized as part of the MMF embryopathy phenotype. As the newborn was not exposed to other immunosuppressive agents in utero, we believe that the phenotype described to be the result of the teratogenic effect of MMF. The spontaneous miscarriage in the first pregnancy may be due to the higher dose and longer duration of MMF exposure. The second pregnancy, with MMF exposure of 4 days, proceeded to term with the resultant phenotype. We conclude that the effect and severity of the embryopathy may be dependent on the dose, timing, and duration of MMF exposure. The manufacturer and the United States Food and Drug Administration have now disseminated information regarding the teratogenic risk of MMF. Women should be fully counseled and advised about contraception during the course of treatment with MMF. © 2008 Wiley‐Liss, Inc.
Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD
Authors: Zhou Kaixin , Chen Wai , Buitelaar Jan , Banaschewski Tobias , Oades Robert D. , Franke Barbara , Sonuga‐Barke Edmund , Ebstein Richard , Eisenberg Jacques , Gill Michael , Manor Iris , Miranda Ana , Mulas Fernando , Roeyers Herbert , Rothenberger Aribert , Sergeant Joseph , Steinhausen Hans‐Christoph , Lasky‐Su Jessica , Taylor Eric , Brookes Keeley J. , Xu Xiaohui , Neale Benjamin M. , Rijsdijk Fruhling , Thompson Margaret , Asherson Philip , Faraone Stephen V.
Published: June 2008

Previous studies have found heterogeneous association between DAT1‐3′‐UTR‐VNTR and attention deficit hyperactivity disorder (ADHD). Various proportions of conduct disorder (CD) comorbidity in their ADHD samples may partially explain the observational discrepancies. Evidence for this comes from family and twin studies which found ADHD probands with CD (ADHD + CD) are genetically different from those without CD (ADHD − CD). Genotypes of 20 DAT1 markers were analyzed in 576 trios, consisting of 141 ADHD + CD and 435 ADHD − CD. In addition to the classical TDT test, a specific genetic heterogeneity test was performed to identify variants that have different transmission patterns in the two phenotypic subgroups. After multiple‐test correction, rs40184 and rs2652511 were significant in TDT tests. Further heterogeneity test found the two SNPs had a significant transmission pattern difference between ADHD + CD and ADHD − CD children, indicating that DAT1 has a significantly greater genetic influence on ADHD without CD. Although the result needs further replications, it does highlight the importance of selecting genetically homogeneous samples for molecular genetic analyses of ADHD. © 2007 Wiley‐Liss, Inc.
Age estimation of adolescent and young adult male and female skeletons II, epiphyseal union at the upper limb and scapular girdle in a modern Portuguese skeletal sample
Authors: Cardoso Hugo F.V.
Published: June 2008

This study completes previously reported ages for timing of epiphyseal union in the postcranial skeleton in a recent sample, with data from the scapula, clavicle, humerus, radius, and ulna. A sample of 121 individuals between the ages of 9 and 29 (females = 65, males = 56) was derived from the Lisbon documented skeletal collection. Epiphyseal union was scored at 16 anatomical locations, using a three‐stage scheme: 1) no union; 2) partial union; and 3) completed union, all traces of fusion having disappeared. In the upper limb, the epiphyses of the elbow are the first to fuse at around 11 to 15 years of age, followed by those of the shoulder and wrist. In the scapular girdle, the coracoid area is the first to fuse, followed by the glenoid surface and remaining epiphyses, with the medial clavicle fusing last, by the age of 25–27. There is a sex difference in maturation, with females showing an advance relative to males of about 2 years in the upper limb. Sex differences in maturation are less noticeable in the scapular girdle, but data suggest that females are also ahead of males. Results suggest overall similar age ranges for stages of union as previous dry bone observations, but some studies show significant divergences which seem to derive from methodological issues. Although some radiographic reference standards provide comparable age ranges, they should probably be avoided when aging skeletal remains. Am J Phys Anthropol, 2008. © 2008 Wiley‐Liss, Inc.
Spina Bifida Research Resource: Study design and participant characteristics
Authors: Mitchell Laura E.
Published: June 2008

BACKGROUND:

Myelomeningocele is a common serious malformation. In the majority of affected individuals, it is believed to be nonsyndromic and determined by the effects of multiple genetic and nongenetic factors.

METHODS:

The Spina Bifida Research Resource (SBRR) is an ongoing, family‐based study, designed to identify maternal and embryonic genes related to myelomeningocele. Families that include at least one individual with myelomeningocele are eligible to participate in the SBRR. Recruitment into the SBRR has occurred in two phases. Descriptive analyses were undertaken to characterize the case individuals enrolled in Phase 1. In addition, the characteristics of subgroups of case individuals, defined by lesion level, were compared.

RESULTS:

During Phase 1, 671 families including 683 case individuals were enrolled. Families in which the case individual(s) were known or suspected to have a recognized pattern of malformations and families that did not complete the study interview were excluded from the present analyses. The case individuals in the remaining families (n = 534) were predominantly female (53%) and non‐Hispanic Caucasian (87%), and in the majority (74%) the highest level of the lesion was in the lumbar region. Differences in the characteristics of the case individuals with lumbar and thoracic level lesions were detected.

CONCLUSIONS:

This article provides details regarding study design, recruitment, and data collection, and the characteristics of the SBRR Phase 1 study population. The data available from the SBRR, in combination with a rapidly evolving understanding of the variation within the human genome, provide an unprecedented opportunity to explore the genetic contribution to myelomeningocele. Birth Defects Research (Part A) 2008. © 2008 Wiley‐Liss, Inc.
Periconceptional use of weight loss products including ephedra and the association with birth defects
Authors: Bitsko Rebecca H. , Reefhuis Jennita , Louik Carol , Werler Martha , Feldkamp Marcia L. , Waller D. Kim , Frias Jaime , Honein Margaret A.
Published: June 2008

BACKGROUND:

Weight loss products are frequently used by reproductive‐aged women and these products may be taken (inadvertently or intentionally) during pregnancy. This study assessed the association between periconceptional use of weight loss products and major structural birth defects.

METHODS:

Mothers of infants with birth defects (case infants) and a random sample of livebirths (control infants) born during the period 1998–2003 in 10 states participated in the National Birth Defects Prevention Study. Adjusted ORs (aORs) for the association between self‐reported use of weight loss products and 23 categories of birth defects were calculated.

RESULTS:

Mothers of control infants (2.4%) and 2.6% of mothers of case infants reported periconceptional use of weight loss products; 1.2% of mothers of control infants and 1.3% of mothers of case infants reported using an ephedra‐containing product. Use of any weight loss product was associated with anencephaly (aOR 2.6; 95% CI: 1.3–5.3), dextro‐transposition of the great arteries (aOR 2.1; 95% CI: 1.1–4.3), and aortic stenosis (aOR 3.4; 95% CI: 1.5–7.9). Use of products containing ephedra showed an increased aOR with anencephaly (aOR 2.8; 95% CI: 1.0–7.3), while other weight loss products were associated with dextro‐transposition of the great arteries (aOR 1.8; 95% CI: 1.2–2.7), and aortic stenosis (aOR 2.1; 95% CI: 1.3–3.5).

CONCLUSIONS:

These results suggest an association between periconceptional use of weight loss products and certain birth defects but the possible mechanism is not clear. This is the first finding of such an association and, because we examined a large number of exposure‐outcome associations in a hypothesis‐generating analysis, these results might have been due to chance. Birth Defects Research (Part A) 2008. © 2008 Wiley‐Liss, Inc.
Acardiac fetus: Evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting
Authors: Jones Kenneth Lyons , Webster William S. , Vaux Keith K. , Benirschke Kurt
Published: June 2008

BACKGROUND:

The acardiac human fetus represents an accident of monozygotic twinning or higher multiple births due to an artery‐to‐artery and a vein‐to‐vein anastomosis in the monochorial placenta. Blood returning to the placenta through the umbilical artery of a normal cotwin is directed into the umbilical artery of the acardiac twin such that blood reaching the cranial end of the embryo is likely to be poorly oxygenated resulting in a number of structural defects including oral clefts. Although retrograde perfusion as a cause of hypoxia is unique to the acardiac fetus, there is ample evidence from animal studies that hypoxia is associated with facial clefting.

METHODS:

Twenty‐six acardiac fetuses were examined at UCSD Medical Center between 1974 and 2003.

RESULTS:

In 12 of the 26, the cephalic end of the fetus was sufficiently intact to document the structures of the face. Of these, cleft lip ± palate was present in five and cleft palate alone was present in one. In all six, the oral cleft followed the normal planes of facial closure. The cotwin in all six cases was normal.

CONCLUSIONS:

This article suggests that decreased blood flow/hypoxia to the cephalic end of the fetus may be an important contributor to the development of cleft lip ± palate and cleft palate alone in the acardiac fetus and raises the possibility that this may also be a mechanism responsible for oral clefting in singletons. Birth Defects Research (Part A) 2008. © 2008 Wiley‐Liss, Inc.
Nicotinamide N‐methyl transferase (NNMT) gene polymorphisms and risk for spina bifida
Authors: Lu Wei , Zhu Huiping , Wen Shu , Yang Wei , Shaw Gary M. , Lammer Edward J. , Finnell Richard H.
Published: June 2008

BACKGROUND:

Moderate hyperhomocysteinemia is a known risk factor for NTDs in a variety of experimental model systems and is believed to be important in humans as well. The enzyme nicotinamide N‐methyl transferase (NNMT) was identified in a genome‐wide linkage scan as being an important regulator of homocysteine homeostasis in a Spanish population, making it an interesting candidate gene for NTDs.

METHODS:

We evaluated 11 SNPs (single nucleotide polymorphism) of the NNMT gene in our study population. In this study, 252 cases (infants with spina bifida) and 335 controls (nonmalformed infants), born during the period 1983–1986 in selected counties in California, were genotyped for variants of the NNMT gene. Allelic, genotype, and haplotype associations with spina bifida risk were evaluated and analyzed.

RESULTS:

None of the SNPs studied alone showed allelic or genotypic associations with spina bifida. However, the TCAG haplotype for block 3 (rs2852447, ra2852425, rs4646337, and rs11569688) showed a decreased risk for spina bifida among non‐Hispanic Whites (OR 0.4; 95%CI: 0.1–1.0).

CONCLUSIONS:

No association was found between infant NNMT gene variants and risk for spina bifida in our study population. However, small sample sizes for most variant groups and for phase‐unknown haplotype data limited the power of the study. Birth Defects Research (Part A) 2008. © 2008 Wiley‐Liss, Inc.
Possible association between acute pelvic inflammatory disease in pregnant women and congenital abnormalities in their offspring: A population‐based case‐control study
Authors: Ács Nándor , Bánhidy Ferenc , Puhó Erzsébet H. , Czeizel Andrew E.
Published: June 2008

BACKGROUND:

The possible association between acute pelvic inflammatory diseases (APID) of pregnant women and structural birth defects, that is, congenital abnormalities (CA) in their offspring, has not been studied.

METHODS:

The data set of the Hungarian Case‐Control Surveillance of Congenital Abnormalities, 1980 and 1996, were evaluated.

RESULTS:

There were 67 out of 22,843 (0.29%) cases and 128 out of 38,151 (0.34%) controls with mothers who had prospectively and medically recorded APID during the second and/or third gestational months (adjusted prevalence OR with 95% CI: 0.95, 0.70–1.29). However, of 12 CA groups evaluated, APID was associated with a higher risk only for cardiovascular CAs (adjusted prevalence OR with 95% CI: 2.6, 1.2–5.4) and the observed number of cases with atrial septal defect, type II with maternal APID exposure exceeded 4.2‐fold its expected number.

CONCLUSIONS:

A possible explanation for the association of APID with higher risk for cardiovascular CA is the high fever of APID, but this signal finding needs confirmation. Birth Defects Research (Part A) 2008. © 2008 Wiley‐Liss, Inc.
Preparation and anti‐tumor efficiency evaluation of doxorubicin‐loaded bacterial magnetosomes: Magnetic nanoparticles as drug carriers isolated from Magnetospirillum gryphiswaldense
Authors: Sun Jian‐Bo , Duan Jin‐Hong , Dai Shun‐Ling , Ren Jun , Guo Lin , Jiang Wei , Li Ying
Published: June 2008

Bacterial magnetosomes (BMs) are commonly used as vehicles for certain enzymes, nucleic acids and antibodies, although they have never been considered drug carriers. To evaluate the clinical potential of BMs extracted from Magnetospirillum gryphiswaldense in cancer therapy, doxorubicin (DOX) was loaded onto the purified BMs at a ratio of 0.87 ± 0.08 mg/mg using glutaraldehyde. The DOX‐coupled BMs (DBMs) and BMs exhibited uniform sizes and morphology evaluated by TEM. The diameters of DBMs and BMs obtained by AFM were 71.02 ± 6.73 and 34.93 ± 8.24 nm, respectively. The DBMs released DOX slowly into serum and maintained at least 80% stability following 48 h of incubation. In vitro cytotoxic tests showed that the DBMs were cytotoxic to HL60 and EMT‐6 cells, manifested as inhibition of cell proliferation and suppression in c‐myc expression, consistent with DOX. These observations depicted in vitro antitumor property of DBMs similar to DOX. The approach of coupling DOX to magnetosomes may have clinical potential in anti‐tumor drug delivery. Biotechnol. Bioeng. 2008;101: 1313–1320. © 2008 Wiley Periodicals, Inc.
ChemInform Abstract: Quantum Chemical Calculations on a Selection of Iodine‐Containing Species (IO, OIO, INO3, (IO)2, I2O3, I2O4 and I2O5) of Importance in the Atmosphere.
Authors: Kaltsoyannis Nikolas , Plane John M. C.
Published: June 2008

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Thermal Expansion Properties of A2(MO4)3 (A: Ho and Tm; M: W and Mo).
Authors: Xiao X. L. , Cheng Y. Z. , Peng J. , Wu M. M. , Chen D. F. , Hu Z. B. , Kiyanagi R. , Fieramosca J. S. , Short S. , Jorgensen J.
Published: June 2008

ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.