bluuebunny/crossref_metadata_2025_split huggingface dataset:
On the taxonomy of ichthyophiid caecilians from southern Thailand: A reevaluation of the holotype of Ichthyophis supachaii Taylor 1960 (Amphibia: Gymnophiona: Ichthyophiidae)
Authors: Müller Hendrik , Kupfer Alexander 
Published: April 2004

AbstractThe taxonomy of South-East Asian ichthyophiid caecilians is largely in a woeful state. We give a new diagnosis for Ichthyophis supachaii from Thailand, based on a reexamination of the complete type series and recently collected material. The holotype is redescribed. The higher number of splenial than dentary teeth, a previously reported main diagnostic character of the taxon, is rejected. Ichthyophis supachaii follows the usual pattern of ichthyophiid caecilians in having more dentary than splenial teeth. Nevertheless, Ichthyophis supachaii is regarded as a valid taxon based on several morphometric and meristic characters. We provide a detailed description of the male phallodeum.
Functional Signal- and Paradigm-Dependent Linear Relationships between Synaptic Activity and Hemodynamic Responses in Rat Somatosensory Cortex
Authors: Nemoto Masahito , Sheth Sameer , Guiou Michael , Pouratian Nader , Chen James W. Y. , Toga Arthur W. 
Published: April 2004

Linear relationships between synaptic activity and hemodynamic responses are critically dependent on functional signal etiology and paradigm. To investigate these relationships, we simultaneously measured local field potentials (FPs) and optical intrinsic signals in rat somatosensory cortex while delivering a small number of electrical pulses to the hindpaw with varied stimulus intensity, number, and interstimulus interval. We used 570 and 610 nm optical signals to estimate cerebral blood volume (CBV) and oxygenation, respectively.The spatiotemporal evolution patterns and trial-by-trial correlation analyses revealed that CBV-related optical signals have higher fidelity to summed evoked FPs (ΣFPs) than oxygenation-derived signals. CBV-related signals even correlated with minute ΣFP fluctuations within trials of the same stimulus condition. Furthermore, hemodynamic signals (CBV and late oxygenation signals) increased linearly with ΣFP while varying stimulus number, but they exhibited a threshold and steeper gradient while varying stimulus intensity, suggesting insufficiency of the homogeneity property of linear systems and the importance of spatiotemporal coherence of neuronal population activity in hemodynamic response formation. These stimulus paradigm-dependent linear and nonlinear relationships demonstrate that simple subtraction-based analyses of hemodynamic signals produced by complex stimulus paradigms may not reflect a difference in ΣFPs between paradigms. Functional signal- and paradigm-dependent linearity have potentially profound implications for the interpretation of perfusion-based functional signals.
Two‐bond
NMR
Spin–Spin Coupling Constants across Hydrogen Bonds
Authors: Del Bene Janet E 
Published: April 2004

Abstract

This article presents a summary of the results of
ab initio
equation‐of‐motion coupled‐cluster singles and doubles (EOM‐CCSD) calculations performed on series of complexes stabilized by N–H–N, C–H–N, and F–H–N hydrogen bonds. For these complexes, the total X–Y spin–spin coupling constant across an X–H–Y hydrogen bond (
2h
J
X–Y
) is determined solely by the Fermi‐contact term, which is distance dependent. Curves are presented that relate the X–Y distance to
2h
J
X–Y
for each series. The dependence of coupling constants on the hybridization and bonding of X and Y are discussed. Relationships are noted between hydrogen bond type, X–Y distances, NMR spin–spin coupling constants, and infrared proton‐stretching frequencies. The effects of zero‐point motion, thermal vibrational averaging, and isotopic substitution on coupling constants are also discussed. Comparisons are made with available experimental data.
Cautious hierarchical switching control of stochastic linear systems
Authors: Campi M.C. , Hespanha João P. , Prandini Maria 
Published: April 2004

AbstractStandard switching control methods are based on the certainty equivalence philosophy in that, at each switching time, the supervisor selects the candidate controller that is better tuned to the currently estimated process model. In this paper, we propose a new supervisory switching logic that takes into account the uncertainty on the process description when performing the controller selection. Specifically, a probability measure describing the likelihood of the different models is computed on‐line based on the collected data and, at each switching time, the supervisor selects the candidate controller that, according to this probability measure, performs the best on the average. If the candidate controller class is hierarchically structured so that for each model one has available several controllers with distinct levels of robustness, the supervisor automatically selects the controller that suitably compromises robustness versus performance, given the current level of model uncertainty. The use of randomized algorithms makes the supervisor implementation computationally tractable. Copyright © 2004 John Wiley & Sons, Ltd.
Nonequilibrium thermodynamics of membrane transport
Authors: Hwang Sun‐Tak 
Published: April 2004

AbstractAll membrane processes are nonequilibrium processes. The transport equation describing a particular membrane process must satisfy the principles of nonequilibrium thermodynamics. However, many expressions for the flux through a membrane as functions of the driving forces can be found in the literature without resorting to nonequilibrium thermodynamics. In fact, the choice of fluxes and driving forces for a particular membrane process frequently seems to be arbitrary and accidental; this is attributed to historical developments. Some exceptions are the cases of reverse osmosis and ultrafiltration processes. Katchalsky and coworkers successfully applied the principles of nonequilibrium thermodynamics by Onsager to analyze reverse osmosis and ultrafiltration processes. A generalized treatise of nonequilibrium thermodynamic analysis is given for all different membrane processes including gas permeation, pervaporation, dialysis, reverse osmosis, ultrafiltration, microfiltration, and electrodialysis. Starting from the entropy production term, fluxes and driving forces are ascertained for each membrane process and the linear expressions between fluxes and driving forces are presented with corresponding coefficients. These are identified with the conventional entities whenever possible. As a consequence of this treatment, flux equations are more generalized to contain additional terms with additional driving forces representing the coupling phenomena. 2004 American Institute of Chemical Engineers AIChE J, 50:862–870, 2004
Exposure to maternal diabetes is associated with altered fetal growth patterns: A hypothesis regarding metabolic allocation to growth under hyperglycemic‐hypoxemic conditions
Authors: Lampl Michelle , Jeanty Philippe 
Published: April 2004

AbstractThe prevalence of diabetes is rising worldwide, including women who grew poorly in early life, presenting intergenerational health problems for their offspring. It is well documented that fetuses exposed to maternal diabetes during pregnancy experience both macrosomia and poor growth outcomes in birth size. Less is known about the in utero growth patterns that precede these risk factor expressions. Fetal growth patterns and the effects of clinical class and glycemic control were investigated in 37 diabetic pregnant women and their fetuses and compared to 29 nondiabetic, nonsmoking maternal/fetal pairs who were participants in a biweekly longitudinal ultrasound study with measurements of the head, limb, and trunk dimensions. White clinical class of the diabetic women was recorded (A2‐FR) and glycosylated hemoglobin levels taken at the time of measurement assessed glycemic control (median 6.9%, interquartile range 5.6–9.2%). No significant difference in fetal weight was found by exposure. The exposed sample had greater abdominal circumferences from 21 weeks (P ≤ 0.05) and shorter legs, but greater upper arm and thigh circumferences accompanied increasing glycemia in the second trimester. In the third trimester, exposed fetuses had a smaller slope for the occipital frontal diameter (P = 0.00) and were brachycephalic. They experienced a proximal/distal growth gradient in limb proportionality with higher humerus / femur ratios (P = 0.04) and arms relatively long by comparison with legs (P = 0.02). HbA1c levels above 7.5% accompanied shorter femur length for thigh circumference after 30 gestational weeks of age. Significant effects of diabetic clinical class and glycemic control were identified in growth rate timing. These growth patterns suggest that hypoxemic and hyperglycemic signals cross‐talk with their target receptors in a developmentally regulated, hierarchical sequence. The increase in fetal fat often documented with diabetic pregnancy may reflect altered growth at the level of cell differentiation and proximate mechanisms controlling body composition. These data suggest that the maternal–fetal interchange circuit, designed to share and capture resources on the fetal side, may not have had a long evolutionary history of overabundance as a selective force, and modern health problems drive postnatal sequelae that become exacerbated by increasing longevity. Am. J. Hum. Biol. 16:237–263, 2004. © 2004 Wiley‐Liss, Inc.
Genetic structure and affinity among eight ethnic populations of Eastern India: Based on 22 polymorphic DNA loci
Authors: Kashyap V.K. , Chattopadhyay P. , Dutta R. , Vasulu T.S. 
Published: April 2004

AbstractThe nature and extent of genetic variation at 22 polymorphic DNA loci, belonging to three distinct classes, especially, 12 STR loci (D3S1358, vWA, FGA, D5S818, D13S317, D7S820, D8S1179, D21S11, D18S51, HPRTB, F13B, LPL), four VNTR loci (D1S7, D4S139, D5S110, D17S79), and six coding loci (HLDQA1, LDLR, GYPA, HBGG, D7S8, GC) were investigated among eight population groups of West Bengal and Manipur regions of India. Of these, two groups from West Bengal belong to Caucasoid and six (one in WB and five in Manipur) belong to Mongoloid stock. Both STR and the expressed loci show wide diversity among the eight populations. For example, Manipur Muslims show differences in allele frequency when compared to four other regional populations. Similarly, Garo, one of the Mongoloid populations of West Bengal, differ in allele frequency from their counterparts in the Manipur region. Departure from Hardy‐Weinberg expectations was observed at certain loci in a few populations (e.g., D21S1137 in Kayastha and Brahmin, HUM F13B in Meitei). Heterozygosity values were higher for Caucasoid than Mongoloid groups. The overall gene differentiation (GST) for STR loci is higher (5.3%) than for those at the expressed region (4.6%). The clustering pattern of the eight populations differs with respect to different classes of genetic markers used. The dendrograms based on six coding loci (HLDQA1, LDLR, GYPA, HBGG, D7S8, GC) differs from those based on STR and VNTR markers. Caucasoid and Mongoloid groups form different clusters and Manipur Muslims are distinct from others. The clustering pattern corresponded with the spatial and ethnic affiliations of the populations. Using different classes of DNA loci at the coding and noncoding region will help to better understand the influence of population structure variables on the genetic structure of populations. Am. J. Hum. Biol. 16:311–327, 2004. © 2004 Wiley‐Liss, Inc.
A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings
Authors: Mori María A. , Lapunzina Pablo , Delicado Alicia , Núñez Guillermo , Rodríguez José I. , de Torres María L. , Herrero Francisco , Valverde Eva , López‐Pajares Isidora 
Published: April 2004

AbstractWe report on a patient with a full monosomy 21 (FM21) prenatally diagnosed in cord fetal blood, and subsequently confirmed in other tissues. Subtle chromosomal translocations of chromosome 21, were ruled‐out by FISH using both painting and 21q telomeric probes. Microsatellites analysis demonstrated the paternal origin of the single chromosome. The propositus showed at 32 weeks of gestation a severe intrauterine growth retardation and microcephaly. He was born with multiple congenital malformations, hypotonia, microcephaly, bilateral microphthalmia (more severe on the left), facial dysmorphism, agenesis of the external auditory meatus, redundant skin in the neck, narrow chest, flat scrotum, cryptorchydism, hypospadias, micropene, camptodactyly, nail hypoplasia, and abnormal palmar and plantar creases. The patient died in the first day of life. At necropsy, micrencephaly, semilobar holoprosencephaly, polimicrogyria, ocular abnormalities, skeletal anomalies, congenital heart disease, and agenesis of right kidney were also observed. To our best knowledge, this case is one of the most completely patient studied with FM21. © 2003 Wiley‐Liss, Inc.
Patterson–Lowry rhizomelic dysplasia: Report of two new patients
Authors: Franceschini Piergiorgio , Licata D. , Guala A. , Ingrosso G. , Di Cara G. , Franceschini D. 
Published: April 2004

AbstractWe report two new patients with the Patterson–Lowry rhizomelic dysplasia characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, short metacarpals, metatarsals and phalanges. The expression of clinical and radiological characteristics is significantly variable, but the unique proximal metaepiphyseal appearance of humeri makes the syndrome easily identifiable. All the reported patients are sporadic. The genetics of the syndrome remain unclear for the moment. © 2003 Wiley‐Liss, Inc.
First non‐mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome
Authors: Meins M. , Böhm D. , Großmann A. , Herting E. , Fleckenstein B. , Fauth C. , Speicher M.R. , Schindler R. , Zoll B. , Bartels I. , Burfeind Peter 
Published: April 2004

AbstractIsopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter → q22.1::q22.1 → pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non‐mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q−) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8–65.7 Mb from the telomere of the p‐arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q− chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter → q22.1::q22.1 → pter)) in non‐mosaic form can be viable, but is associated with severe congenital malformations of the child. © 2003 Wiley‐Liss, Inc.
Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or a new entity?
Authors: Zankl Andreas , Scheffer H. , Schinzel Albert 
Published: April 2004

AbstractThe ectodermal dysplasias (ED) are a large and complex group of diseases characterized by anomalies of the ectoderm and its derivates, often associated with malformations in other organs. We report a patient with an ectodermal dysplasia affecting hair, teeth, and nails and malformations of all four extremities including absence of several rays in the hands and feet. This patient shares many similarities with odontotrichomelic syndrome, a rare ectodermal dysplasia syndrome that has so far only been described in three individuals. However, some differences exist and this patient might also represent a separate ectodermal dysplasia syndrome. p63, a gene that is mutated in a number of syndromes associated with ectodermal dysplasia and limb malformations, was considered a possible candidate gene. However, no mutation in p63 was identified. © 2003 Wiley‐Liss, Inc.
Integrative classification of morphology and molecular genetics in central nervous system malformations
Authors: Sarnat Harvey B. , Flores‐Sarnat Laura 
Published: April 2004

AbstractWe propose a scheme to classify central nervous system (CNS) malformations that integrates morphology and genetics by using patterns of genetic expression as its basis. The precise genetic mutations are not necessary to know in all cases. The premises of this classification are (1) genetic expression in the neural tube follows gradients in the axes that are established at the time of gastrulation: vertical (dorsoventral and ventrodorsal); rostrocaudal; mediolateral. (2) Overexpression in one of these gradients generally results in duplication or hyperplasia of structures, or ectopic segmental (i.e., neuromeric) expression. (3) Underexpression in a gradient generally results in hypoplasia, noncleavage in the midline of paired structures or segmental deletion of neuromeres. These gradients may also affect the formation and migration of neural crest tissue, affecting non‐neural structures such as the face in the case of the mesencephalic neural crest, or induction of paraxial mesodermal in the posterior fossa. Additional criteria of the new classification allow for other genetic influences on developmental processes, such as cellular lineage, exemplified by tuberous sclerosis, and hemimegalencephaly. It is essential that the CNS be considered as a whole and classification not be regionalized, as to the cerebral cortex, because the limit of the rostrocaudal gradient may account for variability in clinical manifestations. © 2004 Wiley‐Liss, Inc.
3D analysis of facial morphology
Authors: Hammond Peter , Hutton Tim J. , Allanson Judith E. , Campbell Linda E. , Hennekam Raoul C.M. , Holden Sean , Patton Michael A. , Shaw Adam , Temple I. Karen , Trotter Matthew , Murphy Kieran C. , Winter Robin M. 
Published: April 2004

AbstractDense surface models can be used to analyze 3D facial morphology by establishing a correspondence of thousands of points across each 3D face image. The models provide dramatic visualizations of 3D face‐shape variation with potential for training physicians to recognize the key components of particular syndromes. We demonstrate their use to visualize and recognize shape differences in a collection of 3D face images that includes 280 controls (2 weeks to 56 years of age), 90 individuals with Noonan syndrome (NS) (7 months to 56 years), and 60 individuals with velo‐cardio‐facial syndrome (VCFS; 3 to 17 years of age). Ten‐fold cross‐validation testing of discrimination between the three groups was carried out on unseen test examples using five pattern recognition algorithms (nearest mean, C5.0 decision trees, neural networks, logistic regression, and support vector machines). For discriminating between individuals with NS and controls, the best average sensitivity and specificity levels were 92 and 93% for children, 83 and 94% for adults, and 88 and 94% for the children and adults combined. For individuals with VCFS and controls, the best results were 83 and 92%. In a comparison of individuals with NS and individuals with VCFS, a correct identification rate of 95% was achieved for both syndromes. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148‐7299/suppmat/index.html. © 2004 Wiley‐Liss, Inc.
Cohen syndrome in the Ohio Amish
Authors: Falk Marni J. , Feiler Heidi S. , Neilson Derek E. , Maxwell Kathleen , Lee James V. , Segall Samantha K. , Robin Nathaniel H. , Wilhelmsen Kirk C. , Träskelin Ann‐Liz , Kolehmainen Juha , Lehesjoki Anna‐Elina , Wiznitzer Max , Warman Matthew L. 
Published: April 2004

AbstractWe describe eight members from two large Amish kindreds who share a phenotype characterized by early‐onset pigmentary retinopathy and myopia, global developmental delay and mental retardation, microcephaly, short stature, hypotonia, joint hyperextensibility, small hands and feet, common facial appearance, and friendly disposition. Several of the children had intermittent granulocytopenia. The phenotypic occurrence in three siblings coupled with the increased coefficient of inbreeding in the Amish suggested that this disorder is autosomal recessive and due to a single founder allele. Despite similarity to the clinical features of Cohen syndrome, experienced dysmorphologists attending the 23rd David W. Smith Workshop suggested the facial gestalt of the Amish children was inconsistent with this diagnosis. We mapped the locus responsible for these individuals' phenotype to chromosome 8q22‐q23, which contains the recently discovered Cohen syndrome gene, COH1. Complete sequencing of the COH1 gene identified a likely disease‐causing frameshift mutation and a missense mutation in the Amish patients. A comparison of features among different Cohen syndrome populations with shared linkage to the COH1 locus or known COH1 gene mutations may allow for the determination of improved clinical criteria on which to suspect the diagnosis of Cohen syndrome. We conclude that facial gestalt seems to be an unreliable indicator of Cohen syndrome between ethnic populations, although it is quite consistent among affected individuals within a particular ethnic group. Other features common to almost all individuals with proven COH1 mutations, such as retinal dystrophy, myopia, microcephaly, mental retardation, global developmental delay, hypotonia, and joint hyperextensibility appear to be better clinical indicators of this disorder. © 2004 Wiley‐Liss, Inc.
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: A phenotype overlapping Stratton–Parker syndrome
Authors: Spadoni Emanuela , Castelnovi Claudia , Maraschio Paola , Stacul Elisabetta , Beluffi Giampiero , Bozzola Mauro , Danesino Cesare 
Published: April 2004

AbstractStratton and Parker [1989] described a 17‐month‐old boy with the previously unreported combination of growth hormone (GH) deficiency, Wormian bones, mild developmental delay, brachycamptodactyly, heart defects, kidney hypoplasia, imperforate anus, bilateral cryptorchidism, and facial anomalies. A similar case was later reported by Gabrielli et al. [1994], who suggested the existence of a “Stratton–Parker syndrome.” Here, we describe a boy with isolated GH deficiency, body asymmetry, and brachycamptodactyly. At birth, complete anorectal agenesis and cryptorchidism were detected, which required surgical treatment. Radiographic examination showed the presence of bilateral proximal radioulnar subluxation and Kirner anomaly. Brain MRI showed asymmetry of the posterior horns of the lateral ventricles and enlarged cisterna magna. Psychomotor development had been mildly delayed during the first years of life. Due to the unique association of GH deficiency with intestinal, genital, and limbs abnormalities, we believe that our patient may represent a further case of Stratton–Parker syndrome. All patients reported, till date, are sporadic males born to healthy nonconsanguineous parents. X‐linked recessive inheritance is a possibility to consider. © 2004 Wiley‐Liss, Inc.