bluuebunny/crossref_metadata_2025 huggingface dataset:
The centralized prenatal genetics screening program of New York City: I. Developmental phase
Authors: Hsu Lillian Y. F. , Karp Lawrence E.
Published: June 2005

The increasing demand in New York City for prenatal diagnosis of genetic disorders has necessitated the development of a large‐scale, centralized prenatal genetic screening program. The objective of this program is eventually to serve 3,000 to 4,000 at‐risk New York City pregnant women annually. Through the teamwork of a task force comprising representatives from the New York Scientists' Committee for Public Information (SCPI), the Medical and Health Research Association of New York City, Inc. (MHRA), the New York State and New York City Departments of Health, and five different advisory committees, the centralized Prenatal Diagnosis Laboratory of New York City (PDL) was designed and established. While this program aims to provide high quality, centralized laboratory service for the prenatal detection of chromosome abnormalities and open neural tube defects, it also emphasizes quality‐controlled services in genetic counseling, amniocentesis, ultrasound monitoring, obstetric care, and patient follow‐up. Genetic counseling by PDL‐employed counselors is made available to patients whenever the participating hospital lacks such service or cannot handle their patient load. In addition, PDL has launched a vigorous public health education program. A detailed guideline for the program was prepared describing the highest standards of quality for each component. The initial step was the developmental phase that included establishing the advisory committees, searching for sponsors, preparing guidelines, developing the health education program, renovating the laboratory site, purchasing and installing equipment, and recruiting of staff. The experience gained from this endeavor will be value in the development of similar large‐scale prenatal diagnosis programs.
Duplication of distal 11q and 22p occurrence in two unrelated families
Authors: Najafzadeh Touran M. , Dumars Kenneth W. , Opitz John M.
Published: June 2005

We report chromosome rearrangements and/or duplication of chromosomes 11 and/or 22. This investigation was prompted by propositi with multiple congenital anomalies and an apparently identical chromosome abnormality – ie, 47,+der(22)t(11;22)(q23;q11.2)mat in two unrelated families. The propositi had failure to thrive, developmental delay, cleft palate, congenital heart disease, meningomyelocele, and hydrocephaly. The breakage points identified on chromosomes 11 and 22 are site‐specific and occur in a nonrandom fashion. Band 11q23 corresponds to the gap produced in some individuals by special treatment of the chromosome preparation with mercaptoethanol and may provide a method to identify individuals at risk for chromosome breakage and rearrangements during gametogenesis.
Retinoblastoma: Mutational mosaicism or host resistance?
Authors: Matsunaga Ei , Herrmann Jürgen , Opitz John M.
Published: June 2005

Carlson and Desnick's [1979] proposals of multiple allelism and mutational mosaicism to account for the observed variability in penetrance and expressivity in retinoblastoma do not seem to give a clear‐cut explanation for the facts that 1) a bilaterally affected patient could have an unaffected carrier child who in turn would produce bilaterally affected offspring, and 2) carriers of the retinoblastoma gene are prone tononradiogenic osteosarcoma irrespective of their phenotypes. However, these observations are readily explained by assuming that inherited host resistance plays an important role in the manifestation of a single major gene for retinoblastoma. Based on their model, Carlson and Desnick offer recurrence risk figures for genetic counseling, but their figures concerning the transmissible types of retinoblastoma do not seem more accurate, as assumed by them, than those previously estimated from the family data.

We present evidence that host resistance may be regarded as a multifactorial threshold character with high heritability, and we propose that tissue‐specific genes, which we presume to be involved in normal differentiation of retinoblasts and osteoblasts, play a crucial role in malignant transformation. Two lines of suggestions are made for future studies: one, to search for polymorphic genes associated with retinoblastoma, and the other, to see whether the principle of synchronous appearance of multiple tumors in persons at high risk applies to other cancers as well.
Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H‐Y antigen‐negative XY gonadal dysgenesis associated with inflammatory bowel disease
Authors: Passarge Eberhard , Wolf Ulrich , Opitz John M.
Published: June 2005

A 16 1/2‐year‐old girl was studied because of ileitis, lack of pubertal development, and primary amenorrhea. She had a 46,XY chromosome constitution in lymphocytes in fibroblasts without structural defects of X or Y. She was H‐Y antigen negative. This observation supports the concept of causal heterogeneity of XY gonadal dysgenesis (Swyer syndrome). Two groups have been established: (1) H‐Y antigen‐positive forms, which are more common, possibly due to gonad‐specific receptor defects (total failure or reduced receptor affinity), (2) H‐Y antigen‐negative forms possibly due to mutation in the H‐Y generating system, either of the structural gene (presumably autosomal) or of a controlling gene (on the sex chromosomes). The H‐Y antigen status may be of value in determining which patients are at risk for gonadoblastoma or dysgerminoma.
A genetic‐epidemiologic study of human immune responsiveness to allergens in an industrial population: I. Epidemiology of reported allergy and skin‐test positivity
Authors: Freidhoff Linda R. , Meyers Deborah A. , Bias Wilma B. , Chase Gary A. , Hussain Rabia , Marsh David G. , Opitz John M.
Published: June 2005

Four hundred six subjects, comprising a 10% random sample of all employees, and a sample of “self‐reported” allergic employees of a light industrial plant participated in an epidemiologic study of allergy. Puncture skin testing with a wide variety of crude allergens revealed a significantly higher prevalence of IgE‐mediated sensitivity in males than females (29% males and 7% females in a random group; 60% males and 30% females in a self‐reported allergic group); however, reported prevalence rates for “allergy” and different allergic symptoms were generally not different between males and females. Interestingly, reported asthma was greater in skin‐test‐positive subjects than in skin‐test‐negative subjects. We also noted a decrease in skin‐test positivity with increasing age in self‐reported allergic subjects. This was significant in the case of several crude allergens but not in the case of positivity to at least one allergen. We also found evidence that people born in and who have been resident in “Zone I” (MD, PA, Del, NJ, or DC) for most of their lives exhibit a greater prevalence of skin‐test positivity than people who were born in and have lived for much of their lives in the northeastern United States (east of the Mississippi River and to the north of South Carolina) other than in Zone I.
De novo partial 2p duplication with postmortem description
Authors: Monteleone P. L. , Blair J. D. , Graviss E. R. , Chen Su‐Chiung , Salvador A. , Grzegocki J. A. , Monteleone J. A. , Francke Uta
Published: June 2005

An unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13→pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.
Altered red cell osmotic fragility in Huntington disease (HD)
Authors: McCormack Michael K. , Ullman Joseph , Lazzarini Alice , Opitz John M.
Published: June 2005

We have studied in fresh and 24‐hour incubated samples the osmotic fragility of erythrocytes from 13 individuals with Huntington disease (HD) and 22 at‐risk, asymptomatic individuals. Five older at‐risk, asymptomatic individuals and six Alzheimer disease individuals were also studied. Results suggest that osmotic fragility of red cells from HD individuals is significantly decreased in fresh (P < 0.0001) and incubated (P < 0.0001) samples. At‐risk individuals appear to fall into two groups: (1) those with normal osmotic fragility (n = 10), and (2) those with decreased osmotic fragility (n = 12). Fragility in older at‐risk persons and those with Alzheimer disease were within normal limits. These data suggest that red cell osmotic fragility measurement may be useful to identify at‐risk persons with an HD gene; however, longitudinal follow‐up will be required to confirm the predictive power of this observation. These data suggest additional support for focusing on the erythrocyte in investigating the molecular pathogenesis of HD.
A new form of metaphyseal chondrodysplasia in two sibs: Surgical treatment of tracheobronchial malacia and scoliosis
Authors: Kaitila I. I. , Halttunen P. , Snellman O. , Takkunen O. , Opitz John M.
Published: June 2005

We describe a 19‐year‐old male with a previously unrecognized form of disproportionate short stature, tracheobronchial malacia, and progressive scoliosis and his 28‐year‐old sister with the same but milder condition. The clinical characteristics were short limbs and digits and thoracolumbar scoliosis. Bone films showed progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. The vertebrae and the intervertebral plates were only mildly affected in spite of marked scoliosis. Trachea and bronchi were reinforced with surrounding acrylate mesh before surgical treatment of the scoliosis. Affected sibs of both sexes and healthy parents suggest an autosomal recessive mode of inheritance.
The genetic analysis of monilethrix in a large inbred kindred
Authors: Schaap T. , Even‐Paz Z. , Hodes M. E. , Cohen M. M. , Hacham‐Zadeh S.
Published: June 2005

The gene for monilethrix was segregating in a large inbred kindred. Pedigree analysis reaffirms an autosomal dominant mode of inheritance. Expressivity appears equally variable within and between sibships while penetrance, in contrast to previous studies, seems to be complete.
Ullrich‐turner syndrome (45,X/46,X,i[Xq]) in a child with a familial inversion of chromosome 3
Authors: Stine Susan B. , Clark Constance E. , Telfer Mary A. , Casey Pamela A. , Cowell Henry R.
Published: June 2005

We report a girl with shortness of stature and minor anomalies representing a mild form of the Ullrich‐Turner syndrome. Cytogenetic studies showed 3 distinct anomalies: (1) a familial pericentric inversion, inv(3) (p25q21)pat, in all cells examined; (2) monosomy X (45,X) in 70% of cells; (3) isochromosome X (46,X,i(Xq)) in 30% of cells. The karyotype designation is: 45,X,inv(3) (p25q21)pat/46,X,i(Xq), inv(3) (p25q21)pat. The pedigree, which was originally interpreted as representing the segregation of a 2;3 translocation, is corrected and updated. Reproductive risks in families with pericentric inversions are discussed.
Linkage analysis with the trismus‐pseudocamptodactyly syndrome
Authors: Robertson R. D. , Spence M. Anne , Sparkes R. S. , Neiswanger K. , Field L. L. , Opitz John M.
Published: June 2005

In 6 generations of a family with the trismus‐pseudocamptodactyly syndrome (TPS), we identified 53 affected individuals, 33 females and 23 males. Thirty‐one of the 53 were personally examined, as were 77 unaffected relatives. The clinical findings are compared with those of previous reports. Severity of expression is highly variable, but reduced penetrance was not observed.

We obtained blood specimens for linkage analysis on all 108 examined individuals. Linkage could be excluded for 16 polymorphic marker loci. The largest positive lod scores were for the BF and AK1 marker systems, being 0.9 and 0.6, respectively. Since BF and AK1 are on different chromosomes (6 and 9, respectively), these results do not indicate a location for the TPS gene.
Prenatal diagnosis of neural tube defects: Experiences with acetylcholinesterase gel electrophoresis
Authors: Crandall Barbara F. , Kasha Walter , Matsumoto Myles
Published: June 2005

We assessed the qualitative test for AChE in addition to AFP for the diagnosis of NTD in 420 AF samples selected from 16,000 second trimester amniocenteses. Three‐hundred and thirty were from normal and ninety from abnormal pregnancies. There were three false positives by this test, two from stored samples containing fetal blood and one from a clear specimen; all had normal outcomes and two had had abnormal AFPs. Forty‐seven of forty‐seven NTDs were positive by AChE and included 26 cases of anencephaly, 16 OSBs, and 5 encephaloceles. In addition, about half of the cases of omphalocele, fetal demise, cystic hygroma, and hydrops gave positive results. One case of congenital nephrosis was negative.

We conclude that AChE gel electrophoresis is a useful adjunctive test when AFP levels measure +3 SD above the mean. Although no false negatives occurred in this series identified by elevated AFP or increased risk for NTDs, the number in unselected pregnancies is not known.
Brief clinical report: A further patient with the Pitt‐Rogers‐Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation
Authors: Donnai Dian , Opitz John M. , Reynolds James F.
Published: June 2005

A further case of a syndrome of pre‐ and postnatal growth retardation, characteristic face, and unsual palmar creases is described. This child also had hypoplasia of labia majora and minora, deafness, and head nodding. Apparently sporadic occurrence in this family does not rule out autosomal recessive inheritance of this syndrome first described by Pitt, Rogers, and Danks in 1984.
Single central maxillary incisor and holoprosencephaly
Authors: Hattori Haruo , Okuno Takehiko , Momoi Toru , Kataoka Kenkichi , Mikawa Haruki , Shiota Kohei , Opitz John M. , Reynolds James F.
Published: June 2005

A holoprosencephalic child was born to a mother with a single central maxillary incisor. The infant had a median cleft lip, a flat nose with a single nostril, hypotelorism, and normal chromosomes. The head was brachycephalic and small, and computed tomography (CT) of the brain showed semilobar holoprosencephaly. The mother had mild hypotelorism but no anosmia, and her brain CT was normal. She was of normal intelligence and stature. Other relatives did not have single central maxillary incisors, hypotelorism, or oral clefts. Whether the mother's anomaly was a new mutation or had been inherited is unknown. We show the significance of a single central maxillary incisor as an indicator of potential holoprosencephaly in the next generation, even if other relatives are apparently normal.
Vascular anomalies in campomelic syndrome
Authors: Rodríguez José Ignacio
Published: June 2005

We report on 4 patients with the campomelic syndrome (CS) in whom postmortem angiography of the lower limbs was performed. Of the 4 ptients, 3 were phenotypic females (2 of them with a 46,XY karyotype) and one was a male with a normal 46,XY karyotype. Three fulfilled the criteria fo CS, and one (phenotypically female with a 46,XY karyotype) lacked the lower limb bowing and the talipes equinovarus typical of CS. This infant may constitute a further example of the recently reported CS without campomelia.

The results of the angiographic study are compared with 46 postmortem angiographies of normal fetuses and newborn infants at different gestational ages. In the first 3 Cs patients the main arterial axis of the lower limb, formed by the superficial femoral and anterior tibial arteries, has smaller diameters than expected while the profunda femoris and posterior tibial arteries had greater diameters than age‐matched controls However, the most striking abnormality was the absence or marked deficiency of the anterior tibial artery. Its terminal branch, the doralis pedis artery, was also absent and the plantar arch was abnormally formed by the posterior tibial artery either alone or in conjunction with the peroneal artery. The normal arterial pattern was found in the patient who lacked bowed bones. This finding supports an developmental association between vascular defects and lower limb anomalies in CS.

This aberrant arterial pattern in CS may affect or be affected by muscle development. The shortness of the posterior femoral and calf muscles fix the knee and the ankle joints. Bone bowing is probably related to the abnormal mechanical forces applied to the developing long bones of the lowe limb. © 1993 Wiley‐Liss, Inc.
Jumping translocation in a newborn boy with dup (4q) and severe hydrops fetalis
Authors: Duval Els , van den Enden Apollonia , Vanhaesebrouck Piet , Speleman Frank
Published: June 2005

We report on the unusual cytogenetic findings in a newborn boy with severe hydrops fetalis. He has a mosaic for 2 unbalanced chromosome rearrangements: a der(18)‐t(4;18)(q31;q23) and a der (18)t(4;18)(q31;p11). As a result, this patient had a duplication of 4q31‐qter in all cells, and was possibly monosomic for the distal ends of 18p and 18q, respectively in the 2 cell lines. Since in both rearrangements the same chromosome 4 segment was translocated to 2 different chromosome regions, we consider the present finding as a peculiar type of jumping translocation. © 1994 Wiley‐Liss, Inc.
Auriculocephalic index: A new anthropometric index for syndrome delineation
Authors: Pelz Lothar , Stein Beate
Published: June 2005

We describe a new anthropometric index, the “auriculocephalic index.” It results from the ratio between the length of auricle and the corresponding preauricular head height. The index is independent of sex and of age. Normally it ranges between 0.25 (−2s) and 0.33 (+2s). In syndrome delineation it may help to diagnose more precisely large or small auricles as phenogenetic variants. © 1995 Wiley‐Liss, Inc.
Variant of odontoonychodermal dysplasia?
Authors: Arnold W. P. , Merkx M. A. W. , Steijlen P. M.
Published: June 2005

In this case report we describe a patient with all the manifestations seen in the odontoonychodermal dysplasia syndrome, except for the shape of teeth and mild mental deficiency. © 1995 Wiley‐Liss, Inc.
Tana river red colobus and crested mangabey: Results of recent censuses
Authors: Decker Barbara Sigman , Kinnaird Margaret F.
Published: June 2005

Censuses of the Tana River red colobus (Colobus badius rufomitratus) and crested mangabey (Cercocebus galeritus galeritus), primate species endemic to riverine forests of the lower Tana River in eastern Kenya, showed significant population declines for both species between the mid‐1970s and 1980s. Red colobus declined in terms of group size and number of groups per forest; the mangabey population declined only in numbers of groups per forest. There was no significant change in mean group age/sex composition between the two time periods for either species. Differences in the feeding and ranging ecology of the two species may explain why the mangabey population suffered a less severe decline than the red colobus. Similarities in census results over 3 years in the late 1980s suggest that the primate populations are no longer decreasing.
Primate population studies at Polonnaruwa. II. Heritability of body measurements in a natural population of toque macaques (Macaca sinica)
Authors: Cheverud James M. , Dittus Wolfgang P. J.
Published: June 2005

The heritability of quantitative traits, or the proportion of phenotypic variation due to additive genetic or heritable effects, plays an important role in determining the evolutionary response to natural selection. Most quantitative genetic studies are performed in the laboratory, due to difficulty in obtaining genealogical data in natural populations. Genealogies are known, however, from a unique 20‐year study of toque macaques (Macaca sinica) at Polonnaruwa, Sri Lanka. Heritability in this natural population was, therefore, estimated.

Twenty‐seven body measurements representing the lengths and widths of the head, trunk, extremities, and tail were collected from 270 individuals. The sample included 172 offspring‐mother pairs from 39 different matrilineal families. Heritabilities were estimated using traditional mother‐offspring regression and maximum likelihood methods which utilize all genealogical relationships in the sample.

On the common assumption that environmental (including social) factors affecting morphology were randomly distributed across families, all but two of the traits (25 of 27) were significantly heritable, with an average heritability of 0.51 for the mother‐offspring analysis and 0.56 for the maximum likelihood analysis. Heritability estimates obtained from the two analyses were very similar. We conclude that the Polonnaruwa macaques exhibit a comparatively moderate to high level of heritability for body form. © 1992 Wiley‐Liss, Inc.
Titelbild: One Shot Laser Pulse Induced Reversible Spin Transition in the Spin‐Crossover Complex [Fe(C4H4N2){Pt(CN)4}] at Room Temperature (Angew. Chem. 26/2005)
Authors: Bonhommeau Sébastien , Molnár Gábor , Galet Ana , Zwick Antoine , Real José‐Antonio , McGarvey John J. , Bousseksou Azzedine
Published: June 2005

Ein reversibler Spinübergang …︁ …︁ wird durch einen einzelnen Laserpuls (8 ns) ausgelöst, der in der Hystereseschleife (schwarze Kurve) des Spin‐Crossover‐Komplexes [Fe(pyrazin){Pt(CN)4}] (seine Struktur ist gezeigt) angewendet wird. Dieses bidirektionale, photoinduzierte „Spinschalten“ passiert bei Raumtemperatur über einen weiten Bistabilitätsbereich und umfasst Magnetisierungs‐ wie Farbänderungen (Low‐Spin‐Zustand: rot, High‐Spin‐Zustand: gelb). Genaueres zu diesem Phänomen findet sich in der Zuschrift von A. Bousseksou et al. auf S. 4137 ff.
Muscle specification in the Xenopus laevis gastrula‐stage embryo
Authors: Wunderlich Kathleen , Gustin Jean K. , Domingo Carmen R.
Published: June 2005

Recent fate maps of the Xenopus laevis gastrula show that mesodermal tissue surrounding the blastopore gives rise to muscle (Keller [1991] Methods Cell Biol 36:61–113; Lane and Smith [1999] Development 126:423–434). In a significant deviation from earlier data, the new maps demonstrate that cells in the ventral half of the gastrula are precursors to a significant portion of trunk somites. However, these posterior somites are not formed until tadpole stages (stages 38–44). We therefore set out to determine the timing of muscle specification within the ventral half of the gastrula. Our approach was to generate a series of tissue explants from gastrula‐stage embryos and then culture them to either stage 28 (tailbud) or stage 44 (tadpole). At each endpoint, the presence of muscle in explants was assessed with a muscle‐specific antibody. Interestingly, we found that muscle tissue is detected in ventral explants. However, these explants must be cultured to the tadpole stage. This is perhaps not unexpected, as this is the point at which this tissue normally gives rise to muscle. We further show that muscle specification of the involuting marginal zone does not change over the course of gastrulation. Together, these results suggest that dorsalizing signals emanating from the midline during gastrulation are not necessary for muscle specification of the ventral half of the involuting marginal zone. Developmental Dynamics 233:1348–1358, 2005. © 2005 Wiley‐Liss, Inc.
Dynamic EGFR‐Ras signalling in Drosophila leg development
Authors: Galindo M.I. , Bishop S.A. , Couso J.P.
Published: June 2005

In Drosophila, as in many other animals, EGFR‐Ras signalling has multiple developmental roles from oogenesis to differentiation. In leg development, in particular, it has been described to be responsible for the establishment of distal leg fates in a graded manner. Here, we investigate the patterns of expression of activators of EGFR‐Ras signalling, as well as some of the effectors, in order to better understand the patterning of the distal leg, and to investigate further roles of this signalling pathway. These patterns, together with genetic data obtained by different mutant conditions for EGFR‐Ras members and transgene expression, suggest two rounds of signalling in leg development. Early, the EGFR ligand Vein is the main player in distal leg patterning, possibly supported later by another ligand activated by Rhomboid. Later, in a second wave of signalling when all the proximal‐distal leg fates have been specified, domains of EGFR/Ras activation appear inside each leg segment to regulate Notch‐mediated joint development, and also some organs such as tendons and sensory organs. This second wave relies on a ligand activated by Rhomboid. Developmental Dynamics 233:1496–1508, 2005. © 2005 Wiley‐Liss, Inc.
Reaction of 1,3,5‐Triazacyclohexanes with TiCl4: Formation of Cationic Complexes
Authors: Köhn Randolf D. , Kampe Philip , Kociok‐Köhn Gabriele
Published: June 2005

N‐substituted 1,3,5‐triazacyclohexanes [R3TAC; R = cyclohexyl, p‐fluorobenzyl or Ph(CH2)n (n = 1, 2, 3)] react with excess TiCl4 to give the corresponding cationic κ3 complexes [(R3TAC)TiCl3][Ti2Cl9]. Attempts to prepare complexes with titanium‐free anions at lower Ti:R3TAC ratio or with added Me3SiOTf lead to the same cations with [Ti2Cl10]2– and [Ti2Cl8(OTf)]– anions. Five complexes as well as (p‐fluorobenzyl)3TAC have been characterised by X‐ray crystallography. The ring C–H bonds engage in hydrogen bonding interactions in the crystals and strongly solvent and anion dependent 1H NMR signals are detected in solution. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2005)
Two Novel Cadmium Polymeric Metallamacrocyclic Complexes Constructed from a Pyridylmethyl‐Functionalized Tetraaza Ligand
Authors: Ma Zhen , Chen Zhongning , Cao Rong
Published: June 2005

A new octadentate ligand L was synthesized by tetrafunctionalization of 1,4,8,11‐tetraazacyclotetradecane (L1, cyclam) with 4‐pyridylmethyl groups and its two novelcadmium polymeric metallamacrocyclic complexes, [Cd3L1.5(C6H5O7)2·6H2O]n (1) and [CdCl2L2·2.5H2O]n (2), were obtained by hydrothermal methods. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2005)
Determination of Iodide and Idoxuridine at a Glutaraldehyde‐Cross‐Linked Poly‐L‐Lysine Modified Glassy Carbon Electrode
Authors: Pereira Francisco C. , Fogg Arnold G. , Ugo Paolo , Bergamo Erwing. P. , Stradiotto Nelson.R. , Zanoni Maria Valnice B.
Published: June 2005

The detection limit (about 0.017 μg mL−1) for voltammetric determination of iodide (peak at +0.87 V vs. Ag/AgCl at pH 2) at a glutaraldehyde‐cross‐linked poly‐L‐lysine modified glassy carbon electrode involving oxidation to iodine was found to be several orders of magnitude lower than that for the voltammetric determination on a bare glassy carbon electrode. This method was applied successfully to the determination of iodide in two medicinal formulations. Idoxuridine was determined indirectly at the same electrode by accumulating it first at −0.8 V vs. Ag/AgCl. At this potential the CI bond in the adsorbed idoxuridine is reduced giving iodide, which is then determined at the modified electrode. The method was successfully applied to the determination of idoxuridine in a urine sample.
Identification and Electroanalytical Characterization of Redox Transitions in Solid‐State Keggin type Phosphomolybdic Acid
Authors: Lewera Adam , Chojak Malgorzata , Miecznikowski Krzysztof , Kulesza Pawel J.
Published: June 2005

The tetragonal single crystal, H3PMo12O40⋅29H2O, is considered here as a model system to describe multielectron redox reactions of Keggin type phosphododecamolybdate. Electrochemical experiments have been performed in solid‐state, i.e. in the absence of contact with liquid electrolyte phase, and they have utilized a gold wire ultramicrodisk (diameter: 10 μm) working electrode, a silver disk quasireference electrode, and a glassy carbon counter electrode within all solid cell. The results of voltammetric measurements are explained and verified against the simulated data. The reversible redox reactions of phosphododecamolybdic acid (H3PMo12O40⋅29H2O) single crystal, that appear at most positive potentials, can be understood in terms of two overlapping one‐electron redox processes (separated by only ≈50 mV), rather than a single two‐electron redox transition, followed by another one‐electron process. Comparison is made to the conventional electrochemical behavior of phosphododecamolybdate in solution (0.5 mol dm−3 H2SO4) as well as to the characteristic of its adsorbate on the electrode surface. The following parameters have been determined from the combination of potential step experiments performed in two limiting (radial and linear) diffusional regimes: the concentration of heteropolymolybdate redox centers, 1.4 mol dm−3, and the apparent diffusion coefficient for charge propagation, 3.6×10−7 cm2 s−1. The result supports the concept of the kinetic control of charge transport by electron hopping (self‐exchange) between mixed‐valence (MoVI/MoV) sites.
Summary measures for evaluating the evidence for linkage
Authors: Wilson Susan R.
Published: June 2005

Two summary measures for evaluating the evidence for linkage are the maximum lod score and the average of the likelihood function (antilod score). The average antilod score can be used to calculate an exact probability of there being no linkage. Use of subjective prior probabilities in the calculation will only influence the final conclusion in any important way if evidence from the sample is not particularly conclusive. It is shown how results from two‐point analyses for linkage of the test locus with each marker locus can be easily combined to give an approximate probability of there being no linkage. Some examples using bipolar affective disorder data and marker loci are presented.
Somatic allele loss in genetic linkage analysis of cancer
Authors: Rebbeck Timothy R. , Lustbader Edward D. , Buetow Kenneth H.
Published: June 2005

The ability to detect or reject genetic linkage in studies of human cancer is often diminished because multiple affected relatives in a pedigree are unavailable for analysis. The observation of somatic allele loss in tumors can provide knowledge about gametic phase. Therefore, consideration of tumor genotype data could be used to obtain knowledge about gametic phase ordinarily gained from a larger sample of individuals in cancer families. The objective of the present study is to describe a method for improving the power to detect or reject genetic linkage by using knowledge about somatic genetic changes in tumor tissue. A modification to the lod score method of linkage analysis is proposed in which knowledge of gametic phase in the linkage likelihood is inferred from observations of loss of constitutional heterozygosity (LoH) in tumor tissue. This methodology was evaluated using a double backcross nuclear family with a pair of offspring. The expected lod score improved substantially when tumor genotype data were included in the analysis. For example, when the haplotype remaining in tumor tissue was identical to the inherited haplotype in constitutional tissue 99% of the time, linkage analyses without tumor genotype data would require a 2–5 times larger sample of offspring pairs to conclude linkage with an expected lod score value of 3 or greater, compared to analyses incorporating tumor genotype data. These results suggest that consideration of tumor genotype data using the proposed method can substantially improve the power of linkage analyses in cancer families. © 1994 Wiley‐Liss, Inc.
Recombination fraction estimate of zero in the presence of apparent recombinants: Effects of incomplete penetrance and sporadic cases
Authors: Boehnke Michael , Hulbert‐Shearon Tempie
Published: June 2005

For a fully penetrant trait, apparent recombinants between the trait and marker loci result in an estimate of the recombination fraction θ > 0. Given allowance for reduced penetrance and/or sporadic cases, this no longer need be true. In this short communication, we describe conditions under which θ is estimated to be zero despite the presence of apparent recombinants. We demonstrate that even if a large proportion of unaffected individuals are apparent recombinants and the penetrance is moderately high, the lod score may be maximized at θ = 0. Despite maximization at θ = 0, presence of apparent recombinants reduces the maximum lod score in comparison to its value if no apparent recombinants are present. ©1995 Wiley‐Liss, Inc.
Lexical and sentential processing in British Sign Language
Authors: MacSweeney Mairéad , Campbell Ruth , Woll Bencie , Brammer Michael J. , Giampietro Vincent , David Anthony S. , Calvert Gemma A. , McGuire Philip K.
Published: June 2005

Studies of spoken and written language suggest that the perception of sentences engages the left anterior and posterior temporal cortex and the left inferior frontal gyrus to a greater extent than nonsententially structured material, such as word lists. This study sought to determine whether the same is true when the language is gestural and perceived visually. Regional neural activity was measured using functional MRI while Deaf and hearing native signers of British Sign Language (BSL) detected semantic anomalies in well‐formed BSL sentences and when they detected nonsense signs in lists of unconnected BSL signs. Processing BSL sentences, when contrasted with signed lists, was reliably associated with greater activation in the posterior portions of the left middle and superior temporal gyri and in the left inferior frontal cortex, but not in the anterior temporal cortex, which was activated to a similar extent whether lists or sentences were processed. Further support for the specificity of these areas for processing the linguistic—rather than visuospatial—features of signed sentences came from a contrast of hearing native signers and hearing sign‐naïve participants. Hearing signers recruited the left posterior temporal and inferior frontal regions during BSL sentence processing to a greater extent than hearing nonsigners. These data suggest that these left perisylvian regions are differentially associated with sentence processing, whatever the modality of the linguistic input. Hum Brain Mapp, 2005. © 2005 Wiley‐Liss, Inc.
Some critical observations on twenty‐first century graduate education in clinical psychology
Authors: Davison Gerald C.
Published: June 2005

A number of issues raised in the C.R. Snyder and T.R. Elliott article, “Twenty‐First Century Graduate Education in Clinical Psychology: A Four Level Matrix Model” (this issue), are critically examined: the role of interpersonal and societal factors in understanding the human condition, the desirability of breadth in both undergraduate and graduate education, political and scientific issues in prevention research and application, problems in the use of randomized clinical trials for evaluating psychotherapy, and the efficacy–effectiveness debate in therapy research. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
Clinical psychology in the twenty‐first century: The wheel remains round
Authors: Kendall Philip C.
Published: June 2005

The authors C.R. Snyder and T.R. Elliott in their article, “Twenty‐First Century Graduate Education in Clinical Psychology: A Four Level Matrix Model” (this issue), reflect on the nature of training needed for optimal clinical psychologists, and offer suggestions for such training within a matrix model. Their position is largely consistent with current American Psychological Association preferences and general training guidelines, and has historical precedence. Indeed, the ideas, though not new or radical, are very sound. Amen, the wheel remains round. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
Graduate education in clinical psychology for the twenty‐first century: Educating psychological health care providers
Authors: Levant Ronald F.
Published: June 2005

This comment focuses on a topic that is implied but not explicated in C.R. Snyder and T.R. Elliott's article (this issue): The biopsychosocial model. I begin by discussing the status of health care, taking up in turn its tremendous problems and the negative effects of a system built on mind–body dualism. I argue for a transformation of the biomedical system to a biopsychosocial system. I then discuss the opportunities for psychology and the implications for training. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
An education for the future
Authors: DeLeon Patrick H. , Dubanoski Richard , Oliveira‐Berry Jill M.
Published: June 2005

The 21st century clinical psychologist will need to become actively engaged in establishing our nation's health care policies and priorities to ensure that the psychological aspects of care are given greater priority. The clinician's workplace and target clientele will drastically change, with the development of a global and preventive perspective becoming the key to the profession's future. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
New visions and revisions: Why isn't graduate education in psychology more relevant to professional practice?
Authors: Wedding Danny
Published: June 2005

C.R. Snyder and T.R. Elliott (this issue) propose a four level matrix model for graduate education in the 21st century. The model is critically reviewed and found to be robust and heuristic. Several critical issues confronting training directors in the 21st century that are not acknowledged by Snyder and Elliott are identified and discussed. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
The enduring value of the Boulder model: “Upon this rock we will build”
Authors: Peterson Christopher , Park Nansook
Published: June 2005

We comment on the article by C.R. Snyder and T.R. Elliott, “Twenty‐First Century Graduate Education in Clinical Psychology: A Four Level Matrix Model” (this issue). We agree with many of the specific sentiments expressed by these authors but not with their dismissal of the Boulder model. We conclude that the Boulder model is as valuable today as when first articulated and that it provides a sturdy foundation upon which to make the sorts of changes the authors suggest. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
Constructive suggestions for the practical education of professional life counselors
Authors: Mahoney Michael J.
Published: June 2005

Professional life counselors will serve an increasingly important role in the life quality of global citizens in the 21st century. The optimal preparation of service providers will reflect basic principles of human development, professional helping, and educational processes. The dynamic systems appreciations of constructivism offer valuable scaffoldings for mentoring and apprenticeship in human helping. Suggestions are made for practical refinements in professional education. © 2005 Wiley Periodicals, Inc. J Clin Psychol.
Brg1, the ATPase subunit of the SWI/SNF chromatin remodeling complex, is required for myeloid differentiation to granulocytes
Authors: Vradii Diana , Wagner Stefan , Doan Diem N. , Nickerson Jeffrey A. , Montecino Martin , Lian Jane B. , Stein Janet L. , van Wijnen Andre J. , Imbalzano Anthony N. , Stein Gary S.
Published: June 2005

Many mammalian SWI/SNF complexes use Brahma‐related gene 1 (Brg1) as a catalytic subunit to remodel nucleosomes for transcription regulation. In several mesenchymal cells and tissues, expression of a defective Brg1 protein negates the normal activity of the SWI/SNF complex and delays or blocks differentiation. To investigate the role of SWI/SNF complexes during myelopoiesis, we stably expressed a dominant negative (dn) Brg1 mutant in the myeloid lineage. Forced expression of dnBrg1 in IL‐3‐dependent murine 32Dcl3 myeloid progenitor cells results in a profound delay in the granulocyte‐colony stimulating factor (G‐CSF) induced granulocytic maturation. These cells also exhibit a significant decrease in the expression of both CD11b and Gr‐1 surface receptors, which are normally upregulated during granulopoiesis, and show sustained expression of myeloperoxidase, which is synthesized primarily during the promyelocytic (blast) stage of myeloid development. Thus, dnBrg1 expression causes a developmental block at the promyelocytic/metamyelocytic stage of myeloid differentiation. Our findings indicate that the normal chromatin remodeling function of Brg1 is necessary for the G‐CSF dependent differentiation of myeloid cells towards the granulocytic lineage. This dependency on Brg1 may reflect a stringent requirement for chromatin remodeling at a critical stage of hematopoietic cell maturation. © 2005 Wiley‐Liss, Inc.
Endogenous hemichannels play a role in the release of ATP from Xenopus oocytes
Authors: Bahima Laia , Aleu Jordi , Elias Marc , Martín‐Satué Mireia , Muhaisen Ashraf , Blasi Joan , Marsal Jordi , Solsona Carles
Published: June 2005

ATP is an electrically charged molecule that functions both in the supply of energy necessary for cellular activity and as an intercellular signaling molecule. Although controlled ATP secretion occurs via exocytosis of granules and vesicles, in some cells, and under certain conditions, other mechanisms control ATP release. Gap junctions, intercellular channels formed by connexins that link the cytoplasm of two adjacent cells, control the passage of ions and molecules up to 1 kDa. The channel is formed by two moieties called hemichannels, or connexons, and it has been suggested that these may represent an alternative pathway for ATP release. We have investigated the release of ATP through hemichannels from Xenopus oocytes that are formed by Connexin 38 (Cx38), an endogenous, specific type of connexin. These hemichannels generate an inward current that is reversibly activated by calcium‐free solution and inhibited by octanol and flufenamic acid. This calcium‐sensitive current depends on Cx38 expression: it is decreased in oocytes injected with an antisense oligonucleotide against Cx38 mRNA (ASCx38) and is increased in oocytes overexpressing Cx38. Moreover, the activation of these endogenous connexons also allows transfer of Lucifer Yellow. We have found that the release of ATP is coincident with the opening of hemichannels: it is calcium‐sensitive, is inhibited by octanol and flufenamic acid, is inhibited in ASCx38 injected oocytes, and is increased by overexpression of Cx38. Taken together, our results suggest that ATP is released through activated hemichannels in Xenopus oocytes. © 2005 Wiley‐Liss, Inc.
Inhibition of human embryonic stem cell differentiation by mechanical strain
Authors: Saha Somen , Ji Lin , de Pablo Juan J. , Palecek Sean P.
Published: June 2005

Mechanical forces have been reported to induce proliferation and/or differentiation in many cell types, but the role of mechanotransduction during embryonic stem cell fate decisions is unknown. To ascertain the role of mechanical strain in human embryonic stem cell (hESC) differentiation, we measured the rate of hESC differentiation in the presence and absence of biaxial cyclic strain. Above a threshold of 10% cyclic strain, applied to a deformable elastic substratum upon which the hESC colonies were cultured, hESC differentiation was reduced and self‐renewal was promoted without selecting against survival of differentiated or undifferentiated cells. Frequency of mechanical strain application had little effect on extent of differentiation. hESCs cultured under cyclic strain retained pluripotency, evidenced by their ability to differentiate to cell lineages in all three germ layers. Mechanical inhibition of hESC differentiation could not be traced to secretion of chemical factors into the media suggesting that mechanical forces may directly regulate hESC differentiation. Mechanical strain is not sufficient to inhibit differentiation, however, in unconditioned medium, hESCs grown under strain differentiated at the same rate as cells cultured in the absence of strain. Thus, while mechanical forces play a role in regulating hESC self‐renewal and differentiation, they must act synergistically with chemical signals. These findings imply that application of mechanical forces may be useful, in combination with chemical and matrix‐encoded signals, towards controlling differentiation of hESCs for therapeutic applications. © 2005 Wiley‐Liss, Inc.
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3(VI) N10‐N7 domains
Authors: Squarzoni Stefano , Sabatelli Patrizia , Bergamin Natascha , Guicheney Pascale , Demir Ercan , Merlini Luciano , Lattanzi Giovanna , Ognibene Andrea , Capanni Cristina , Mattioli Elisabetta , Columbaro Marta , Bonaldo Paolo , Maraldi Nadir Mario
Published: June 2005

Ultrastructural alterations of collagen VI in cultured fibroblasts and reduced collagen VI immunostaining in the papillary dermis and endomysium were detected in a patient with a mild form of Ullrich congenital muscular dystrophy caused by a COL6A3 gene mutation. The patient had been previously demonstrated to express an α3(VI) chain shorter than normal due to skipping of the mutated exon. We show that collagen VI filaments are not organized in a normal network in the extracellular matrix secreted by patient's cultured fibroblasts. Moreover, we demonstrate that in this patient the α3(VI) chain is produced in lower amounts and it is almost exclusively represented by the shorter, alternatively spliced N6‐C5 isoform. These results suggest that different α3(VI) chain isoforms, containing also domains of the N10‐N7 region, are required for assembling a proper collagen VI network in the extracellular matrix. © 2005 Wiley‐Liss, Inc.
Intracellular water homeostasis and the mammalian cellular osmotic stress response
Authors: Ho Steffan N.
Published: June 2005

The cellular response to osmotic stress ensures that the concentration of water inside the cell is maintained within a range that is compatible with biologic function. Single cell organisms are particularly dependent on mechanisms that permit adaptation to osmotic stress because each individual cell is directly exposed to the external environment. Mammals, however, limit osmotic stress by establishing an internal aqueous environment in which intravascular water and electrolytes are subject to sensitive and dynamic, organism‐based homeostatic regulation. Recent studies of NFAT5/TonEBP, an essential mammalian osmoregulatory transcription factor, demonstrate the unexpected yet critical significance of cell‐based osmotic regulation in vivo. These results highlight the fundamental importance of maintaining intracellular water homeostasis in the face of varying cellular metabolic activity and distinct tissue microenvironments. © 2005 Wiley‐Liss, Inc.