bluuebunny/crossref_metadata_2025 huggingface dataset:
Cyclic GMP-dependent protein kinase EGL-4 controls body size and lifespan inC. elegans
Authors: Hirose Takashi , Nakano Yoshiya , Nagamatsu Yasuko , Misumi Takashi , Ohta Hiromitsu , Ohshima Yasumi
Published: February 2003

We designed an automatic system to measure body length, diameters and volume of a C. elegans worm. By using this system, mutants with an increased body volume exceeding 50% were isolated. Four of them are grossly normal in morphology and development, grow longer to be almost twice as big,and have weak egg-laying defects and extended lifespan. All the four mutants have a mutation in the egl-4 gene. We show that the egl-4gene encodes cGMP-dependent protein kinases. egl-4 promoter::gfp fusion genes are mainly expressed in head neurons, hypodermis, intestine and body wall muscles. Procedures to analyze morphology and volume of major organs were developed. The results indicate that volumes of intestine, hypodermis and muscle and cell volumes in intestine and muscle are increased in theegl-4 mutants, whereas cell numbers are not. Experiments on genetic interaction suggest that the cGMP-EGL-4 signaling pathway represses body size and lifespan through DBL-1/TGF-β and insulin pathways, respectively.
Root or crown: a developmental choice orchestrated by the differential regulation of the epithelial stem cell niche in the tooth of two rodent species
Authors: Tummers Mark , Thesleff Irma
Published: February 2003

The rodent incisor grows continuously throughout its lifetime. The epithelial stem cell niche is located at the apical end of the tooth and its progeny gives rise to the ameloblasts that form the hard enamel. Previously,mesenchymal FGF10 was shown to support the niche, in conjunction with epithelial Notch signaling. Here we show that in a different continuously growing tooth type, the molar of the sibling vole, a similar regulatory system is in place. Moreover, the identical expression pattern of Bmp4compared to Fgf10 suggests that BMP4 could also be involved in the regulation of the epithelial stem cell niche. Notch and FGF10 signaling is mainly absent in the mouse molar, which stops growing and develops roots. The regulation of the epithelial stem cell niche seems to be flexible allowing for the existence of different tooth types, such as continuously growing teeth,and high and low crowned molars.
FGF signaling through FGFR1 is required for olfactory bulb morphogenesis
Authors: Hébert Jean M. , Lin Mary , Partanen Juha , Rossant Janet , McConnell Susan K.
Published: February 2003

During development, the embryonic telencephalon is patterned into different areas that give rise to distinct adult brain structures. Several secreted signaling molecules are expressed at putative signaling centers in the early telencephalon. In particular, Fgf8 is expressed at the anterior end of the telencephalon and is hypothesized to pattern it along the anteroposterior (AP) axis. Using a CRE/loxP genetic approach to disrupt genes in the telencephalon, we address the role of FGF signaling directly in vivo by abolishing expression of the FGF receptor Fgfr1. In the Fgfr1-deficient telencephalon, AP patterning is largely normal. However, morphological defects are observed at the anterior end of the telencephalon. Most notably, the olfactory bulbs do not form normally. Examination of the proliferation state of anterior telencephalic cells supports a model for olfactory bulb formation in which an FGF-dependent decrease in proliferation is required for initial bulb evagination. Together the results demonstrate an essential role for Fgfr1 in patterning and morphogenesis of the telencephalon.
Combinatorial control of meristem identity in maize inflorescences
Authors: Kaplinsky Nicholas J. , Freeling Michael
Published: February 2003

The architecture of maize inflorescences, the male tassel and the female ear, is defined by a series of reiterative branching events. The inflorescence meristem initiates spikelet pair meristems. These in turn initiate spikelet meristems which finally produce the floret meristems. After initiating one meristem, the spikelet pair and spikelet meristem convert into spikelet and floret meristems, respectively. The phenotype of reversed germ orientation1 (rgo1) mutants is the production of an increased number of floret meristems by each spikelet meristem. The visible phenotypes include increased numbers of flowers in tassel and ear spikelets, disrupted rowing in the ear, fused kernels, and kernels with embryos facing the base of the ear, the opposite orientation observed in wild-type ears. rgo1behaves as single recessive mutant. indeterminate spikelet1(ids1) is an unlinked recessive mutant that has a similar phenotype to rgo1. Plants heterozygous for both rgo1 and ids1exhibit nonallelic noncomplementation; these mutants fail to complement each other. Plants homozygous for both mutations have more severe phenotypes than either of the single mutants; the progression of meristem identities is retarded and sometimes even reversed. In addition, in rgo1; ids1double mutants extra branching is observed in spikelet pair meristems, a meristem that is not affected by mutants of either gene individually. These data suggest a model for control of meristem identity and determinacy in which the progress through meristem identities is mediated by a dosage-sensitive pathway. This pathway is combinatorially controlled by at least two genes that have overlapping functions.
Telemedicine and doctor–patient communication: a theoretical framework for evaluation
Authors: Miller Edward Alan
Published: February 2003

The literature on doctor-patient communication demonstrates that patient, provider and contextual characteristics influence behaviour within medical encounters, which in turn is an important determinant of health outcomes. This paper introduces a conceptual model which posits that telemedicine affects health outcomes through changes in the way doctors and patients communicate with one another. It also proposes that this process depends on the medium through which the consultation takes place, whether in person, over the telephone, via fax or email, or through two-way interactive video. Since participants in two-way interactive video-consultations rarely meet in person, it is particularly important that the effect of substituting video for face-to-face consultations be delineated.
Predicting success: Stakeholder readiness for home telecare diabetic support
Authors: Hebert M A , Paquin M J , Iversen S
Published: February 2003

summary

Readiness to adopt a new technology is one factor that contributes to the success of a telehealth programme. Since one goal of telehealth is to improve care, it is appropriate to determine its success through a quality-of-care framework that addresses structure, process and outcome. A qualitative case study of home care in the Calgary Health Region in Alberta set out to understand how clients, nurses, physicians and managers perceived their readiness to use video-visits for home care. Focus groups, home visits, and telephone and face-to-face interviews were used to collect data. Readiness to adopt home telecare was compared between groups, as well as with behaviour predicted in the literature. Differences in perceptions were identified among the four participant groups. Clients and managers identified a higher degree of readiness-clients because of the potential to support independence in their homes and managers because of the potential efficiencies in the system.
Physical outcome measurements via the Internet: Reliability at two Internet speeds
Authors: Russell Trevor G , Wootton Richard , Jull Gwendolen A
Published: February 2003

summary

We have developed a software application to enable interactive rehabilitation via the Internet. The reliability of the telemedicine application was examined by comparing it with face-to-face assessment. The physical outcome measures assessed were knee range of motion, quadriceps muscle strength, limb girth and an assessment of gait. One therapist performed both in-person and Internet-based measurements of all outcome measures on 20 normal subjects. There was good agreement between the two techniques (the 95% limits of agreement included zero for all the variables studied). Internet assessments were conducted at two bandwidths: ISDN at 128 kbit/s and the telephone network at 17 kbit/s. Bandwidth had no significant influence on any of the measures. This study suggests that Internet-based physiotherapy interventions delivered to the home are suitable for further development.
The clinical achievements of a geriatric telehealth project in its first year
Authors: Saligari J , Flicker L , Loh P K , Maher Sean , Ramesh P , Goldswain P
Published: February 2003

summary

We performed a feasibility study to test the validity of conducting two standard cognitive assessments via videoconferencing. There was a high correlation between the scores from a face-to-face assessment and those from a videoconference. A second trial was conducted with patients living in a rural community, examined both face to face and via videoconferencing. Again, the validity and reliability of the assessment tools were demonstrated for videoconferencing. The acceptability of the technology to patients and clinicians was also shown. As a result of the trials and at the request of rural participants, geriatric telehealth services are now being provided to a rural aged care assessment team (ACAT) on a fee-for-service basis. The success of this project is reflected in its senior clinical and academic ‘champions’, the establishment of a dedicated telehealth resource and the development of protocols.
Telehealth policy: Looking for global complementarity
Authors: Scott Richard E , Chowdhury M Faruq U , Varghese Sunil
Published: February 2003

summary

Telehealth is gaining acceptance as a tool for bridging the local and global health-care divides. However, integrating telehealth into existing health infrastructures presents a daunting challenge for governments, policy makers, telehealth advocates and health-care workers. The development of specific inter-jurisdictional telehealth policies will significantly improve the ability to meet this challenge. In the policy context, one ‘success’ is the increasing number of jurisdictions addressing policy issues. However, policy decisions have largely been taken in isolation, within individual health institutions, regions, provinces/states or countries. This represents a failure of the current approach. Telehealth, by its very nature, has the ability to transgress existing geo-political boundaries. As a consequence, policy in any single jurisdiction may hamper or even cripple the ability of telehealth to fulfil its potential. Commonality-or at least complementarity-of approach to telehealth policy must be encouraged. To achieve this, it is essential to understand the current or anticipated regulatory constraints that may affect telehealth. We have begun a preliminary study of country-specific policy issues.
Low-cost telemedicine in the developing world
Authors: Swinfen R , Swinfen P
Published: February 2003

summary

The Swinfen Charitable Trust uses digital cameras and email to provide specialist advice to doctors in developing countries. The first telemedicine link was set up in July 1999. By the end of a year there were three links to hospitals in Bangladesh, Nepal and the Solomon Islands. Initially the consultants, all of whom give their advice free of charge, were from the UK, but now are worldwide. At present there are 12 links in operation, including one on Tristan da Cunha, and two links approved and awaiting equipment. The advice given by the consultants has been found to be helpful to the referring doctors and to benefit their patients. Failures have been due to the use of obsolescent equipment, computer viruses, lack of communication with the referring hospital before setting up a link, and referring doctors not chasing up their own referrals. Problems yet to be solved include the unreliability of the Internet, certain medicolegal issues and assessing the quality of medical consultants. In future there will be the problem of managing a rapidly growing telemedicine network.
Problem-based learning: A case study in providing e-health education using the Internet
Authors: Tichon Jennifer G
Published: February 2003

summary

The current trend among many universities is to increase the number of courses available online. However, there are fundamental problems in transferring traditional education courses to virtual formats. Delivering current curricula in an online format does not assist in overcoming the negative effects on student motivation which are inherent in providing information passively. Using problem-based learning (PBL) online is a method by which computers can become a tool to encourage active learning among students. The delivery of curricula via goal-based scenarios allows students to learn at different rates and can successfully shift online learning from memorization to discovery. This paper reports on a Web-based e-health course that has been delivered via PBL for the past 12 months. Thirty distance-learning students undertook postgraduate courses in e-health delivered via the Internet (asynchronous communication). Data collected via online student surveys indicated that the PBL format was both flexible and interesting. PBL has the potential to increase the quality of the educational experience of students in online environments.
Argentina's national telemedicine programme: Reasons for a premature failure
Authors: Urtubey Xavier , Petrich Marcelo
Published: February 2003

summary

In July 1999, the Argentinean government decided to extend the national telemedicine network from eight to 108 hospitals and medical schools. In April 2000, a telemedicine workstation was donated to every hospital, although there was no training, no guidelines and no overall objectives. We have been leading this project since June 2000 as part of the National Information Society Programme, with an initial US$50,000 budget for the first semester. Since then, we have raised funds, deployed a large cooperative network, and developed training, seminars and content. We have also proposed an overall action plan. Nevertheless, the programme in that time has twice suffered a change of government, the budget has changed five times and the priorities have changed three times. At present, the team finds itself with no contract and no political action plan in a national context which is not favourable to information and communications technology projects.
Success and failure in a Michigan telepsychiatry programme
Authors: Whitten Pamela , Rowe-Adjibogoun Jill
Published: February 2003

summary

Telemedicine programmes are often complex undertakings that result in combinations of success and failure. Michigan State University and LifeWays received a grant for a four-phase telepsychiatry research project in 2000. We employed multiple data-collection techniques, including patient and provider surveys, in-depth interviews, observation, patient chart analyses, and organizational archival data analyses. Of the four phases in the project, two proved to be successful, one failed in its initial goal but succeeded with a redefined goal, and one failed completely. Issues that affected success or failure included human resource conflicts, organizational structure, inter-organizational relationships and allocated resources.
Logistical aspects of large telemedicine networks. 2: Measurement of network activity
Authors: Wootton Richard , Smith Anthony C , Gormley Sinead , Patterson Jessica
Published: February 2003

summary

We carried out a retrospective review of the videoconference activity records in a university-run hospital telemedicine studio. Usage records describing videoconferencing activity in the telemedicine studio were compared with the billing records provided by the telecommunications company. During a seven-month period there were 211 entries in the studio log: 108 calls made from the studio and 103 calls made from a far-end location. We found that 103 calls from a total of 195 calls reported by the telecommunications company were recorded in the usage log. The remaining 92 calls were not recorded, probably for one of several reasons, including: failed calls-a large number of unrecorded calls (57%) lasted for less than 2 min (median 1.6 min); origin of videoconference calls-calls may have been recorded incorrectly in the usage diary (i.e. as being initiated from the far end, when actually initiated from the studio); and human error. Our study showed that manual recording of videoconference activity may not accurately reflect the actual activity taking place. Those responsible for recording and analysing videoconference activity, particularly in large telemedicine networks, should do so with care.
Investigation of Benzoic Acid Adsorption on to ODTMA-Bentonite by Response Surface Optimization
Authors: Kapucu H. , Yildiz N. , Gönülşen R. , Çalimli A. Ç
Published: February 2003

The adsorption of benzoic acid on to a modified bentonite (ODTMA-bentonite) was studied. ODTMA-bentonite was synthesized by the incorporation of a quaternary ammonium surfactant (octadecyltrimethylammonium bromide) on to Ç ankiri sodium bentonite (Ç Na-B) with a cation-exchange capacity of 85 mequiv/100 g clay. A 24 full factorial central composite experimental design followed by multi-stage Monte-Carlo optimization was used in designing the experiments and analyzing the results. This procedure limited the number of actual experiments performed whilst allowing for possible interactions between the four parameters studied.

These parameters were temperature (20–40°C), agitation rate (30–170 rpm), the amount of organobentonite used (0.1–1.5 g) and the initial benzoic acid concentration (40–200 mg/l). Of these parameters, the amount of organobentonite and the temperature had significant effects in comparison with the agitation rate and initial benzoic acid concentration. To effect the maximum adsorption of benzoic acid on to ODTMA-bentonite, the optimum values for the tested variables over the selected ranges were as follows: initial concentration of benzoic acid = 200 mg/l, agitation rate = 170 rpm, amount of organobentonite = 1.5 g and temperature = 40°C. The coefficient of determination (R2) for the model employed was 0.99343 with a probability value of 9.44 × 10−14 (p-value < 0.01). This p-value indicates a very high significance for the regression model. The maximum adsorbed concentration of benzoic acid predicted by the equation (169.05 mg/l) agreed well with the value (163 mg/l) obtained from the experimental data measured under optimum conditions.
Chemical and Physical Properties of the Al1-xFexPO4 System Prepared by the Coprecipitation Method. II. Surface Acidity, Textural Properties and Catalytic Activity
Authors: Mohamed F.Sh.
Published: February 2003

A coprecipitation method for the preparation of Al1-xFexPO4 catalysts with x (or Fe/P ratio) = 0.0, 0.2, 0.4, 0.6 and 0.8 was developed. The samples were calcined at temperatures within the range 200–800°C. The surface structure, cumulative acidity, textural properties, and the catalytic activity and selectivity of the prepared samples towards isopropanol and cyclohexane conversion were studied using different techniques. The results showed that the freshly calcined samples consisted of an amorphous phase, a quartz-type and a tridymite-type phase depending on the calcination temperature. The total surface acidity decreased with FePO4 content or calcination temperature. Variations in the Fe/P ratio and the calcination temperature led to changes in both the surface area and total pore volume of the Al1-xFexPO4 samples. Increases in the Fe/P ratio and increasing calcination temperature led to increases in the pore radius. The catalytic activity and selectivity were significantly affected as the structures of the Al1-xFexPO4 catalysts varied. The kinetics of the reaction were also studied.
Change of Structural and Adsorption Properties Due to Isomorphous Substitution in Hydrotalcite-like Materials
Authors: Shafei Gamal M.S. El
Published: February 2003

Samples of hydrotalcite-like compounds with the general formula [M2+1-xM3+x(OH)2]x+•Ax–•nH2O were prepared via coprecipitation through the addition of NaOH to mixed chloride salt solutions. On maintaining the M2+/M3+ ratio equal to three, it was possible to effect isomorphous substitution. This led to the preparation of different compounds which could be compared to the parent material in which M2+ = Ni and M3+ = Al. Other divalent cations used were Mg2+ and Zn2+ with Cr3+ and Fe3+ being employed as trivalent cations. The ratio between cations of the same charge was unity in all the isomorphously substituted samples and substitution was conducted for one oxidation state only at a time. Hence, all samples contained a maximum of three different cations. The charge compensating anion in the interlayers, A, was identified as mainly CO32– with the co-existence of Cl− anions to different extents.

The structural and textural properties developed as a result of the substitutions effected were studied by XRD, IR, DTA, acid–base titration and mercury porosimetry measurements. Various samples were used for the adsorption of 4-chlorophenol to examine the effects on the adsorption properties arising from isomorphous substitution. The major effect having a marked influence on the adsorption properties arose from the nature of the compensating anion in the interlayers. Different tendencies of different cations to be accommodated in the layer structure resulted in different interlayer spaces and variable conformations of the charge compensating anion. In all cases, at low equilibrium concentrations, the adsorption of 4-chlorophenol (pH = 11) occurred at the edges of the layer structure accompanied by Cl−/OH− exchange. The increasing order in the amount of 4-chlorophenol adsorbed was matched by an increasing order in the interlayer space due to substitution. At higher values of the equilibrium concentration, the adsorption of both phenolate and OH− anions decreased. This was because such adsorption into the interlayer space to replace the CO2– anion was diffusion-controlled, making the process improbable at high pH values.
Application of Kinetic Models to the Sorption of Copper(II) on to Peat
Authors: Ho Y.S. , McKay G.
Published: February 2003

A comparison of the kinetics of the sorption of copper(II) on to peat from aqueous solution at various initial copper(II) concentrations and peat doses was made. The Elovich model and the pseudo-second order model both provided a high degree of correlation with the experimental data for most of the sorption process. There was a small discrepancy at the initial stages of sorption which suggested that film diffusion or wetting of the peat may be involved in the early part of the sorption process. Models evaluated included the fractional power equation, the Elovich equation, the pseudo-first order equation and the pseudo-second order equation. The kinetics of sorption were followed based on the sorption capacity of copper(II) on peat at various time intervals. Results show that chemical sorption processes may be rate-limiting in the sorption of copper(II) on to peat during agitated batch contact time experiments. The rate constant, the equilibrium sorption capacity and the initial sorption rate were calculated. From these parameters, an empirical model for predicting the concentrations of metal ions sorbed was derived.
Surface Texture of Microcrystalline Tunnel-Structured Manganese(IV) Oxides: Nitrogen Sorptiometry and Electron Microscopy Studies
Authors: Ali A.A. , Al-Sagheer F.A. , Zaki M.I.
Published: February 2003

Three different modifications of manganese(IV) oxide, viz. cryptomelane, nsutite and todorokite-like, were synthesized by hydrothermal methods. The bulk chemical composition, phase composition, crystalline structure and particle morphology of the resulting materials were determined by thermogravimetry, atomic absorption spectroscopy, X-ray diffractometry, infrared spectroscopy and scanning electron microscopy. The surface chemical composition, texture and structure were assessed using X-ray photoelectron microscopy, nitrogen sorptiometry and high-resolution electron microscopy. The results highlighted the hydrothermal conditions under which such tunnel-structured modifications of manganese(IV) oxide can be successfully synthesized. Moreover, they revealed that (i) the bulk was microcrystalline, (ii) the crystallites were either fibrils (cryptomelane and nsutite) or rod-like (todorokite) with low-index exposed facets, (iii) the surface chemical composition mostly reflected that of the bulk and (iv) the surface texture was linked with high specific areas, slit-shaped mesopores associated with particle interstices and micropores which allowed surface accessibility to the bulk tunnels of the test oxides. The application of such test oxides as shape-selective oxidation catalysts appears worthy of investigation.
The Colloidal Chemical Properties and Features of the Adsorption of Functional Oligoperoxides on to Liquid and Solid Surfaces
Authors: Zaichenko A.S. , Mitina N.E. , Kovbuz M.O. , Hertsyk O.M.
Published: February 2003

The study of the sorption processes of polyfunctional initiating systems on to organic and inorganic fillers has arisen because of the development of new filled copolymer composites. In the present study, the kinetics of formation of adsorption layers by surface-active functional oligoperoxides (FSAP) based on vinyl acetate (VA), 2-t-butylperoxy-2-methyl-5-hexene-3-yne (VEP), maleic anhydride (MAN) or maleic acid (MA) at molar ratios of VA/VEP/MA and VA/VEP/MAN equal to 1:1:1 and derived metal complexes (OMC) with a Cu2+ ion content of 0.45% and 0.80% on the surface of glass–carbon plates were examined.
Uptake of Cationic Dyes by Cement Kiln Dust: Sorption Mechanism and Equilibrium Isotherm
Authors: Nassar Mamdouh M. , Daifullah Abd. El Hakim A. , Magdy Yehia H. , Ebrahiem Ebrahiem E.
Published: February 2003

The mechanistic aspects of the sorption of Basic Blue-3 and Basic Red-22 on to cement kiln dust (CKD) have been investigated. The by-pass kiln dust before and after washing with water was characterized by X-ray diffraction methods, IR spectroscopy and elemental analysis. Two forms of by-pass kiln dust were used in this study without any treatment, i.e. in powder and pelletized form (the latter being achieved using water or sodium silicate).

Equilibrium isotherms to assess the maximum capacity of the two basic dyes on the two forms of CKD were evaluated using a computer program. This allowed two-, three- and four-parameter adsorption models to be studied; it was found that the piecewise Freundlich isotherm yielded an excellent overall fit. Washing with water led to the loss of some active sites responsible for the sorptive capacity. The increase in capacity observed after pelletization with water rather than with sodium silicate could be explained by an increase in hydroxy moieties that undergo exchange reactions. In both cases of pelletization, the adsorption capacity was less than for the unwashed powdered form. The uptake order was found to be: unwashed powder > pellets with water > pellets with sodium silicate.
From Tensegrity Grids to Cable-strut Grids
Authors: Bin-Bing Wang , Yan-Yun Li
Published: February 2003

In this paper, tensegrity grids are extended to cable-strut grids as supporting structures. Can tensegrity structures replace the familiar forms? If not, why? How to achieve the goal? These questions are discussed in detail. Following a review of tensegrity concepts, various forms of non-contiguous strut and contiguous strut tensegrity configurations especially the geometrically rigid forms are presented and analysed through real-scale structural design. Analysis shows that the strut-to-cable connection among simplexes inherently induces low structural efficiency, because of the mechanisms produced at the connected vertices and especially cables in the compressive layer sustaining tensions, which result in low stiffness and much reduced structural depth. Contiguous strut configurations present much better properties, but as struts are still isolated in simplexes, they are much heavier than space trusses owing to excessive bar length and reduced structural depth due to bar inclination. All these drawbacks stem from the introduction of “islands of compression in a sea of tension” in simplexes and free-standing grids. Based on the analysis, lightweight forms are geometrically rigid and of improved structural depth, and above all, based on contiguous and short struts in both simplexes and grids. Tensegrity concept is accordingly transferred to cable-strut structures, and cable-strut concept and the principles of designing cable-strut simplexes are summarized. Some lightweight cable-strut grids, including AP (anti-prism) & ATP (anti-truncated-pyramid) grids developed from the bar-intersecting method to stabilise tensegrity simplexes, and RP (reciprocal prism) grids and CP (crystal-cell pyramid) grids based on novel simplexes, are introduced and their configurations and performance is illustrated. Their high structural efficiency, especially high stiffness and outstanding weight savings over space trusses is proved in case studies. The economical value of lightweight cable-strut grids is discussed finally.
Optimization of Large Scale Three Dimensional Reticulated Structures Using Cellular Genetics and Neural Networks
Authors: Rajasekaran S.
Published: February 2003

In this work, the input for large space structures is created using Formian [1]. In this paper, a new optimization technique called Cellular Automata (CA) has been combined with Genetic algorithm (GA) to develop a different search and optimization algorithm known as Cellular Genetic Algorithm (CGA), which considers the areas of the members of the space structures as discrete variables. The objective function for each cell in Cellular automata is obtained either by using structural analysis package like FEAST (ISRO 1995), ANSYS or SAP or by using neural networks. Initially to obtain the data for training the neural network structural analysis package is used. The use of Neural Network is motivated by time consuming repeated analysis required by Cellular Genetics during Optimization process. In addition, a multilevel optimization approach is implemented by reducing the size of the search space for individual design variables in each successive level of optimization process. The non- linear load deflection behavior of the optimized structure is also studied. The numerical tests presented demonstrate the computational advantages of the proposed approach “Cellular Genetic Algorithm” combined with Neural Networks (NN) become pronounced for large scale Optimization problems.
Oligoyric microcephaly in a child with Williams syndrome
Authors: Faravelli Francesca , D'Arrigo Stefano , Bagnasco Irene , Selicorni Angelo , D'Incerti Ludovico , Riva Daria , Pantaleoni Chiara
Published: February 2003

We report a 19‐month‐old boy with microcephaly, growth and developmental delay, facial dysmorphisms, and simplified gyral pattern. Magnetic resonance imaging (MRI) examination demonstrated microcephaly with simplified gyral pattern or oligogyric microcephaly. The facial phenotype was interpreted as suggestive of Williams syndrome (WS). Fluorescence in situ hybridization (FISH) analysis performed with an elastin probe revealed a deletion in the chromosomal band 7q 11.23, confirming the clinical diagnosis. To our knowledge, this represents the first patient with WS and oligogyric microcephaly. © 2002 Wiley‐Liss, Inc.
Somatic instability of the androgen receptor CAG repeat in a normal female
Authors: Sharp Andrew , Hurst Jane
Published: February 2003

The polyglutamine repeat disorders represent a family of degenerative neurological diseases which are characterized by expansions of tandemly repeated CAG repeats. Investigations have demonstrated that in Huntington disease, dentatorubral pallidoluysian atrophy, and the spinocerebellar ataxias type 1, 2, and 3, the polyglutamine expansions show both meiotic and mitotic instability. However, previous studies have suggested that the polyglutamine motif within exon 1 of the androgen receptor gene (AR) which expands in cases of spinobulbar muscular atrophy differs in that it is apparently mitotically stable. During linkage analysis in a family with FG syndrome, a rare condition mapped to Xq12‐q22.1, we detected the presence of an unusually small AR allele segregating within the pedigree. Sequencing, cytogenetic analysis, and PCR of flanking markers indicate that this allele arose by a somatic contraction of seven CAG repeats in the proband's mother, representing the first report of mitotic instability of an AR CAG repeat of normal size. © 2002 Wiley‐Liss, Inc.
X‐linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
Authors: Brunetti‐Pierri Nicola , Andreucci Maria Vittoria , Tuzzi Rosaria , Vega Giovanna Roberta , Gray George , McKeown Carol , Ballabio Andrea , Andria Generoso , Meroni Germana , Parenti Giancarlo
Published: February 2003

X‐linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. We performed mutational analysis of the ARSE gene in a series of 16 male patients, and we found mutations in 12 subjects. Clinical variability was observed among the patients, including severe presentations with early lethality in one of them, and symptoms such as cataract and respiratory distress. This indicates that the clinical spectrum of CDPX1, commonly considered a relatively mild form of chondrodysplasia punctata, is wider than previously reported. Different types of mutations were found among the patients examined. Three missense mutations (I80N, T481M, P578S) were expressed in Cos7 cells to study the effects on arylsulfatase E catalytic activity. These mutations caused impaired enzymatic activity suggesting that they are responsible for the disease. Two nonsense mutations, W581X in four patients and R540X in one, were found. One patient showed an insertion (T616ins). In three patients we found deletions of the ARSE gene: in one the deletion involved only the 3′ end of the gene, while in two the ARSE gene was completely deleted. © 2002 Wiley‐Liss, Inc.
Mental deficiency, alterations in performance, and CNS abnormalities in Overgrowth syndromes
Authors: Cohen M. Michael
Published: January 2003

Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson‐Golabi‐Behmel syndrome, hemihyperplasia, Sturge‐Weber syndrome, Bannayan‐Riley‐Ruvalcaba/Cowden syndrome, macrocephaly‐autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes. © 2003 Wiley‐Liss, Inc.
Diagnostic evaluation of developmental delay/mental retardation: An overview
Authors: Battaglia Agatino , Carey John C.
Published: January 2003

Mental retardation (MR) is one of the few clinically important disorders for which the etiopathogenesis is still poorly understood. It is a condition of great concern for public health and society. MR is currently defined as a significant impairment of cognitive and adaptive functions, with onset before age 18 years. It may become evident during infancy or early childhood as developmental delay (DD), but it is best diagnosed during the school years. MR is estimated to occur in 1–10% of the population, and research on its etiology has always been a challenge in medicine. The etiopathogenesis encompasses so many different entities that the attending physician can sometimes feel a “virtual panic,” starting a wide‐range diagnostic evaluation. The Consensus Conference of the American College of Medical Genetics has recently established guidelines regarding the evaluation of patients with MR [Curry et al.,1997], emphasizing the high diagnostic utility of cytogenetic studies and neuroimaging in certain clinical settings. However, since then there has been substantial progress in molecular cytogenetics and neuroimaging techniques, the use of which has allowed recognition and definition of new disorders, thus increasing the diagnostic yield. This review will focus on the most appropriate investigations shown to be, at present, necessary to define the etiology of DD/MR, in the context of recommendations for the clinical evaluation of the patient with undiagnosed MR. © 2003 Wiley‐Liss, Inc.
Advances in molecular cytogenetics for the evaluation of mental retardation
Authors: Xu Jie , Chen Zhong
Published: January 2003

Recent years have witnessed rapid advances in molecular cytogenetics and its impact in studying mental retardation (MR). We review new molecular cytogenetic methods, including interphase fluorescence in situ hyrbridization (FISH), comparative genomic hybridization (CGH), multicolor karyotyping, telomere FISH, primed in situ labeling (PRINS), genotyping , microdissection, and microarray for the evaluation of MR. These new methods are very useful in two major aspects: further characterization of chromosome abnormalities as detected with routine banding analysis, including additions, duplications, deletions, translocations, markers, or complex aberrations; and screening for “hidden” chromosome aberrations in patients with an apparently normal karyotype. These new methods have great diagnostic potential in prenatal, postnatal, and preimplantational settings. Although powerful, at this point, they are primarily research tools in nature. It is essential that these new methods be used in conjunction with standard methods in order to maximize obtainable information for better management of patients with MR. © 2003 Wiley‐Liss, Inc.
Neuroimaging studies in the evaluation of developmental delay/mental retardation
Authors: Battaglia Agatino
Published: January 2003

The employement of neuroimaging studies in the evaluation of individuals with developmental delay/mental retardation (DD/MR) is still highly debated. The Consensus Conference of the American College of Medical Genetics has suggested that “neuroimaging appears to have an especially important role in patients with microcephaly or macrocephaly, seizures, loss of psychomotor skills and neurologic signs,” whereas the value of neuroimaging investigations “in the normocephalic patient without focal neurological signs is unclear” [Curry et al.,1997]. However, recent literature reports show how the latest neuroimaging techniques (in vivo proton magnetic resonance spectroscopy [H‐MRS]) may prove to be useful in the diagnostic process of those individuals with DD/MR and no neurological signs/symptoms. The use of these techniques can, in addition, help in monitoring treatment in distinct metabolic disorders. This review will focus on the usefulness of neuroimaging studies in some of the newer metabolic disorders. This paper will also cover those recognizable patterns of human malformation where neuroimaging findings seem to be relevant both toward diagnosis and management, and add to our understanding of the related behavior phenotype. The essential role of magnetic resonance imaging (MRI) on the progress in the diagnostic recognition of malformations of cerebral cortical development is stressed. © 2003 Wiley‐Liss, Inc.
Metabolic disorders and mental retardation
Authors: Kahler Stephen G. , Fahey Michael C.
Published: January 2003

The metabolic and anatomical substrate of most forms of mental retardation is not known. Because the basis of normal brain function is not sufficiently understood, the basis of abnormal function is understood poorly. Even in disorders where the fundamental biochemical defect is known, such as phenylketonuria (PKU) and other enzyme defects, the exact basis for brain dysfunction is uncertain. The outcome for treated PKU, galactosemia, homocystinuria, and lysosomal disorders is not yet optimal. The various forms of nonketotic hyperglycinemia often respond poorly to current therapy. Less familiar disorders, with or without seizures, such as deficient synthesis of serine or creatine and impaired glucose transport into the brain, and disorders with variable malformations, such as Smith‐Lemli‐Opitz (SLO) syndrome and the congenital disorders of glycosylation (CDGs), may initially be thought to be a nonspecific form of developmental delay.

Less familiar disorders, with or without seizures and disorders with variable malformations may initially be thought to be a nonspecific form of developmental delay.

Simple tests of urine, blood, and cerebrospinal fluid may lead to a diagnosis, accurate genetic counseling, and better treatment. Metabolic brain imaging (magnetic resonance spectroscopy (MRS)) has also helped to reveal biochemical abnormalities within the brain. © 2003 Wiley‐Liss, Inc.
Costello syndrome: An overview
Authors: Hennekam Raoul C.M.
Published: January 2003

The Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy, developmental delay, and a outgoing, friendly behavior. Patients can develop papillomata, especially around the mouth, and have a predisposition for malignancies (mainly abdominal and pelvic rhabdomyosarcoma in childhood). Costello syndrome is likely to be an autosomal dominant disorder. The pathogenesis is unclear, but there are many clues for a disturbed elastogenesis, possibly through a disturbed elastin‐binding protein reuse by chondroitin sulfate‐bearing proteoglycans accumulation. A review of the findings in the 73 patients that have been described in sufficient detail is provided. © 2003 Wiley‐Liss, Inc.
Kabuki make‐up syndrome: A review
Authors: Matsumoto Naomichi , Niikawa Norio
Published: January 2003

Kabuki make‐up syndrome (KMS, OMIM 147920) is an MCA/MR syndrome of unknown cause. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. Approximately more than 350 cases have been reported from all over the world. Besides these five cardinal manifestations, joint laxity (74%), dental abnormalities (68%), and susceptibility to infections including recurrent otitis media (63%) were well recognized as other frequent features. A variety of visceral anomalies such as caidiovascular anomalies (42%), renal and/or urinary tract anomalies (28%), biliary atresia, diaphragmatic hernia, and anorectal anomaly were also reported. Some patients were said to have normal intelligence (16%) and normal heights, suggesting that they may have reproductive fitness to have their children. At least eight patients had lower lip pits with or without cleft palate, known as a feature of van der Woude syndrome. There have been 13 chromosomal abnormalities associated with KMS. However, no common abnormalities or breakpoints that possibly contribute to positional cloning of the putative KMS gene(s) are known. Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied. © 2003 Wiley‐Liss, Inc.
Genetics, mental retardation, and the forging of new alliances
Authors: Finucane Brenda , Haas‐Givler Barbara , Simon Elliott W.
Published: January 2003

The lives of people with intellectual disabilities are tightly intermeshed with the philosophies and practices of special educators, therapists, psychologists, social workers, and others who make up the mental retardation field. These nonmedical workers represent a kind of extended family, which can strongly influence the decisions made and services received by the people they serve. By contrast, most individuals with mental retardation do not have extraordinary medical needs, and healthcare professionals play only a minor role in their human services family. There are deeply rooted historical differences between the medical model of mental retardation with which genetics professionals are familiar and the philosophies embraced by nonmedical workers who dominate the mental retardation field. These contrasts have an important impact on the genetic diagnostic process, as well as a more global effect on mental retardation research. Without the full participation of teachers, therapists, psychologists, and others outside the medical setting, many practical applications of genetic research can neither be implemented nor expanded upon, and an important opportunity for cross‐fertilization is lost. It is in the interest of the genetics community to take advantage of recent overtures by the mental retardation field to forge new alliances and broaden its perspectives on intellectual disability. © 2003 Wiley‐Liss, Inc.
Estimating the length of incomplete long bones: Forensic standards from Guatemala
Authors: Wright Lori E. , Vásquez Mario A.
Published: February 2003

We report on new standards for estimating long bone length from incomplete bones for use in forensic and archaeological contexts in Central America. The measurements we use closely follow those defined by Steele ([1970] Personal Identification in Mass Disasters; Washington, DC: Smithsonian Institution), but we add several new landmarks. We measured the femur, humerus, tibia, and fibula of 100 Maya skeletons (68 males, 32 females) recovered from forensic exhumations. We derived the equations by regressing bone segment length on bone length, and solved for bone length to maximize the utility of the equations for taller populations. We generated equations for all segments that were significantly correlated with bone length for males, for females, and for both sexes combined, but accepted only regressions with r2 > 0.85 as reliable. Landmarks defined by muscle attachment sites were more variable in location than landmarks on articular architecture; thus we retained few equations that use these landmarks. We tested the male and combined sex equations on 36 males of unknown ethnicity exhumed from a military base in Guatemala, and found that the equations performed satisfactorily. We also evaluated the performance of equations by Steele ([1970] Personal Identification in Mass Disasters; Washington, DC: Smithsonian Institution) and Jacobs ([1992] Am J Phys Anthropol 89:333–345) on the Maya bones, and conclude that significant population variation in long bone proportions hinders their application in Central America. Am J Phys Anthropol 120:233–251, 2003. © 2003 Wiley‐Liss, Inc.