bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review
Authors: Zou Ying S. , Van Dyke Daniel L. , Thorland Erik C. , Chhabra Harinderpal S. , Michels Virginia V. , Keefe Jeannette G. , Lega Melanie A. , Feely Molly A. , Uphoff Timothy S. , Jalal Syed M. 
Published: July 2006

AbstractRing chromosome 20 is a rare chromosome disorder characterized by a typical seizure phenotype consisting of complex partial seizures, frequent progression to generalized tonic or tonic‐clonic seizures, and nocturnal frontal lobe seizures with frequent episodes of non‐convulsive status epilepticus. Development may be normal or mildly delayed, followed by cognitive and behavioral decline after seizure onset. Here, we describe a patient with a typical severe seizure phenotype and a mosaic ring chromosome 20 without loss of p or q subtelomere regions or telomeric sequences. The ring had a longer telomere length than either of the telomere ends of its homologous chromosome 20 by quantitative fluorescence in situ hybridization analysis, suggesting that it might be derived from telomere–telomere fusion. The phenotypic comparison of this patient and other chromosome 20 cases that had terminal deletions of 20qter (n = 1) and 20pter (n = 7), shows that the epilepsy phenotype and electroencephalographic abnormalities are characteristic in patients with ring chromosome 20. Several hypotheses have been proposed to address the elusive mechanisms underlying the seizure disorder in ring chromosome 20. These possibilities include haploinsufficiency of two epilepsy genes CHRNA4 and KCNQ2 located at 20qter, silencing of these genes by a telomere position effect, or microdeletions or rearrangements of genetic material during the ring formation. © 2006 Wiley‐Liss, Inc.
Deletion at 14q22‐23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies
Authors: Nolen Leisha D. , Amor David , Haywood Ashley , St. Heaps Luke , Willcock Chris , Mihelec Marija , Tam Patrick , Billson Frank , Grigg John , Peters Greg , Jamieson Robyn V. 
Published: July 2006

AbstractAnophthalmia and pituitary gland hypoplasia are both debilitating conditions where the underlying genetic defect is unknown in the majority of cases. We identified a patient with bilateral anophthalmia and absence of the optic nerves, chiasm and tracts, as well as pituitary gland hypoplasia and ear anomalies with a de novo apparently balanced chromosomal translocation, 46,XY,t(3;14)(q28;q23.2). Translocation breakpoint analysis using FISH and high‐resolution microarray comparative genomic hybridization (CGH) has identified a 9.66 Mb deleted region on the long arm of chromosome 14 which includes the genes BMP4, OTX2, RTN1, SIX6, SIX1, and SIX4. Three other patients with interstitial deletions involving 14q22‐23 have been described, all with bilateral anophthalmia, pituitary abnormalities, ear anomalies, and a facial phenotype similar to our patient. OTX2 is involved in ocular developmental defects, and the severity of the ocular phenotype in our patient and the other 14q22‐23 deletion patients, suggests this genomic region harbors other gene/s involved in ocular development. BMP4 haploinsufficiency is predicted to contribute to the ocular phenotype on the basis of its expression pattern and observed murine mutant phenotypes. In addition, deletion of BMP4 and SIX6 is likely to contribute to the abnormal pituitary development, and SIX1 deletion may contribute to the ear and other craniofacial features. This indicates that contiguous gene deletion may contribute to the phenotypic features in the 14q22‐23 deletion patients. © 2006 Wiley‐Liss, Inc.
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)
Authors: Chinen Yasutsugu , Kaname Tadashi , Yanagi Kumiko , Saito Nakamichi , Naritomi Kenji , Ohta Takao 
Published: July 2006

AbstractOpitz trigonocephaly C syndrome (OTCS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and limb abnormalities, and visceral anomalies. We describe a patient with the manifestations of OTCS who also had a de novo balanced reciprocal translocation t(3;18)(q13.13q12.1). His phenotype is a mild form with mild developmental delay and no severe visceral anomalies. Our findings suggest the possible existence of a new locus responsible for OTCS either on 3q13.13 or 18q12.1. © 2006 Wiley‐Liss, Inc.
Normal values for morphological abnormalities in school children
Authors: Merks Johannes H.M. , Özgen Heval M. , Cluitmans Theresia L.M. , van der Burg‐van Rijn Jaqueline M. , Cobben Jan Maarten , van Leeuwen Flora E. , Hennekam Raoul C.M. 
Published: July 2006

AbstractClinical morphology has proven to be a strong tool in the delineation of many syndromes and a helpful instrument in molecular studies. Numerous studies have been performed investigating the prevalence of minor anomalies in various disorders; all concluding that minor anomalies can well be utilized as indicators of altered embryonic differentiation. However, for adequate evaluation, normal values for phenotypic abnormalities are essential. So far, only few studies on the frequency of phenotypic abnormalities in the normal population have been done having one thing in common: all were performed in newborn infants. We studied morphological characteristics in a group of 1,007 school children, representative for the Dutch population, through a body surface examination using detailed definitions for all morphological findings. The region of study and distribution of children over various school types was chosen in such a way that it represented the general Dutch population. The median age of the studied children was 11 years (range 8–14 years), sex ratio (M:F) was 0.93. Nine hundred twenty‐three children were of Caucasian descent, 84 others of mixed ethnic backgrounds. The reliability of the examinations was tested by independent scoring of 111 children by two observers, showing a kappa score of 0.85. Normal values for the morphological findings are presented together with their age‐adjusted classification. These normal values provide a valuable source for validation of classifications of phenotypic abnormalities, especially those that are depending on frequency, that is, minor anomalies and common variants. Furthermore, they will allow a proper evaluation of patterns of phenotypic abnormalities found in patient groups with specific disorders. © 2006 Wiley‐Liss, Inc.
The molecular etiologies and associated phenotypes of amelogenesis imperfecta
Authors: Wright J. Timothy 
Published: July 2006

AbstractThe amelogenesis imperfectas (AIs) are a clinically and genetically diverse group of conditions that are caused by mutations in a variety of genes that are critical for normal enamel formation. To date, mutations have been identified in four genes (AMELX, ENAM, KLK4, MMP20) known to be involved in enamel formation. Additional yet to be identified genes also are implicated in the etiology of AI based on linkage studies. The diverse and often unique phenotypes resulting from the different allelic and non‐allelic mutations in these genes provide an opportunity to better understand the role of these genes and their related proteins in enamel formation. Understanding the AI phenotypes also provides an aid to clinicians in directing molecular studies aimed at delineating the genetic basis underlying these diverse clinical conditions. Our current knowledge of the known mutations and associated phenotypes of the different AI subtypes are reviewed. © 2006 Wiley‐Liss, Inc.
Looking different: Understanding diversity in facial form
Authors: Brugmann S.A. , Kim J. , Helms J.A. 
Published: July 2006

AbstractThe face is perhaps the most distinguishing feature of the vertebrate body. Six billion human faces decorate the earth, each of them unique and exceptional in their own way. Likewise, facial variation is the cornerstone of species‐specific diversity within the animal kingdom. Yet despite this multiplicity in form, the underlying architecture of the vertebrate face is remarkably conserved. If early embryos of different species first resemble one another, then how is this facial diversity generated? Our primary goal is to elucidate the molecular origins of species‐specific craniofacial morphogenesis. We examined one facial primordia, the frontonasal prominence, of phylogenetically related (chick vs. quail vs. duck) and distant (mouse vs. chick) embryos and asked how such drastically different forms (e.g., beak, bill, or muzzle) could be generated from a once‐similar entity. We examined the morphological ontogeny and a number of molecular expression patterns in an attempt to shed light on when species‐specific variations occur and what molecules (BMPs, FGFs, etc.) are implicated in its differential growth. We hypothesize that subtle changes in the signaling of these morphogens can reproducibly alter the morphology of the frontonasal prominence. Taken together, these data facilitate our fledgling understanding of the process by which facial morphogenesis is regulated. © 2006 Wiley‐Liss, Inc.
Clinical dividends from the molecular genetic diagnosis of craniosynostosis
Authors: Wilkie Andrew O.M. , Bochukova Elena G. , Hansen Ruth M. S. , Taylor Indira B. , Rannan‐Eliya Sahan V. , Byren Jo C. , Wall Steven A. , Ramos Lina , Venâncio Margarida , Hurst Jane A. , O'Rourke Anthony W. , Williams Louise J. , Seller Anneke , Lester Tracy 
Published: July 2006

AbstractA dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for ∼25% of craniosynostosis, whilst several additional genes make minor contributions. Using specific examples, we show how these discoveries have enabled refinement of information on diagnosis, recurrence risk, prognosis for mental development, and surgical planning. However, phenotypic variability can present a significant challenge to the clinical interpretation of molecular genetic tests. In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations. © 2006 Wiley‐Liss, Inc.
Analysis of the dopamine beta hydroxylase gene in Gilles de la tourette syndrome
Authors: Ozbay Fatih , Wigg Karen G. , Turanli Eda Tahir , Asherson Phil , Yazgan Yanki , Sandor Paul , Barr Cathy L. 
Published: July 2006

AbstractNumerous lines of evidence support the role of the catecholamines in the development of tics and Gilles de la Tourette syndrome (GTS). Dopamine‐β‐hydroxylase (DBH) is the key enzyme in the conversion of dopamine to norepinephrine and the alleles of several polymorphisms of the DBH gene are correlated with individual variation in serum levels of the enzyme. We investigated the genetic relationship of the gene for DBH to GTS in two samples, one collected in Canada and one collected in Turkey. In total 106 affected probands and siblings in 71 nuclear pedigrees and 40 affected individuals and 71 family members in five multi‐generational pedigrees were genotyped for three polymorphisms in the DBH locus. In the Canadian pedigrees we found no convincing evidence for linkage either in the multi‐generational pedigrees or association in the nuclear families. We found significant evidence for association in the Turkish pedigrees (n = 29) for the 19 bp insertion/deletion markers; however, there was no supporting evidence for association with the other two markers. Based on the small sample size and low number of informative transmissions, we conclude that the results from the 19 bp insertion/deletion markers may be a chance false positive finding. These findings, in total, suggest that the DBH locus is unlikely to be a major gene influencing the susceptibility to DBH. © 2006 Wiley‐Liss, Inc.
Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome
Authors: Capone George , Goyal Parag , Ares William , Lannigan Emily 
Published: July 2006

AbstractThe term dual‐diagnosis refers to a person with mental retardation and a psychiatric disorder. Most children with Down syndrome (DS) do not have a psychiatric or neurobehavioral disorder. Current prevalence estimates of neurobehavioral and psychiatric co‐morbidity in children with DS range from 18% to 38%. We have found it useful to distinguish conditions with a pre‐pubertal onset from those presenting in the post‐pubertal period, as these are biologically distinct periods each with a unique vulnerability to specific psychiatric disorders. Due to the increased recognition that psychiatric symptoms may co‐occur with mental retardation, and are not inextricably linked to cognitive impairment, these conditions are considered treatable, in part, under a medical model. Improvement in physiologic regulation, emotional stability, and neurocognitive processing is one of the most elusive but fundamental goals of pharmacologic intervention in these disorders. © 2006 Wiley‐Liss, Inc.
Current dilemmas in Down syndrome clinical care: Celiac disease, thyroid disorders, and atlanto‐axial instability
Authors: Cohen William I. 
Published: July 2006

AbstractThis study will discuss our current understanding of celiac disease (CD), thyroid disorders, and atlanto‐axial instability, three important areas of medical management in individuals with Down syndrome (DS). In this study, we highlight our current knowledge, as well as what we need to study in order to gather the necessary data to refine the empirically based screening protocols which are now in place. © 2006 Wiley‐Liss, Inc.
Clinical trials in children with Down syndrome: Issues from a cognitive research perspective
Authors: Heller James H. , Spiridigliozzi Gail A. , Crissman Blythe G. , Sullivan‐Saarela Jennifer A. , Li Jennifer S. , Kishnani Priya S. 
Published: July 2006

AbstractClinical and translational research play a key role in the transition of basic research discoveries to effective therapies. In Down syndrome (DS), these research approaches are not well utilized or developed to test new therapies to improve cognitive and/or adaptive function in this population. This article reviews the history of clinical trial research in children with DS from a cognitive research perspective and discusses important issues relevant to the conduct of well designed clinical trials for this population. Specific issues addressed include: funding, study design, study medication, subject recruitment and retention, safety, and efficacy challenges. The Duke Down Syndrome Research Team's program of clinical research of cholinesterase inhibitors for individuals with DS serves as the model application for the identified research principles. It is hoped that this article will raise awareness of the unmet need for clinical research in the cognitive and adaptive function of individuals with DS, especially children with DS. © 2006 Wiley‐Liss, Inc.
Three‐dimensional reconstruction of urogenital tract from Visible Korean Human
Authors: Uhl Jean‐François , Park Jin Seo , Chung Min Suk , Delmas Vincent 
Published: July 2006

AbstractThe three‐dimensional (3D) modeling from anatomical images is revealed to be a remarkable learning tool in anatomy. This is particularly true for the pelvis area and the urogenital tract. The authors present here a 3D reconstruction of the male urogenital tract from the Visible Korean Human data. The segmentation of 440 anatomical images was arranged in a pile and processed by the SURFdriver software to build an interactive 3D model. Forty‐two anatomical structures were reconstructed, including kidneys, ureters, urinary bladder (outer and inner boundaries), urethra, testes, epididymides, ducti deferens, seminal vesicles, prostate, rectum, anal canal, abdominal aorta, superior mesenteric artery, renal arteries, inferior vena cava, renal veins, lumbar vertebrae, intervertebral discs, sacrum, hip bones, femurs, and skin. Three‐dimensional models of 42 anatomical structures can be individually and interactively manipulated. In addition, the use is able to control the transparency of the model. The aim of this computerized modeling is to present a learning tool for students and patients. In the near future, it could be the basis of new simulation tools for surgeon's training. Anat Rec Part A, 288A:893–899, 2006. © 2006 Wiley‐Liss, Inc.
Staging of intestinal development in the chick embryo
Authors: Southwell Bridget R. 
Published: July 2006

AbstractComparisons between developmental studies rely on embryonic staging systems. It is important for comparison of molecular, immunohistochemical, and physiological studies of the developing chick intestine that the developmental stage of embryos is reliably determined. Good staging systems exist for the external features of the chick embryo but not for development of internal organs. To facilitate precise comparisons of chick embryo intestine development, we prepared an intestinal staging system. Embryos were fixed, other tissues dissected away, and the intestine and associated organs were then drawn to scale using a camera lucida. This produced black‐and‐white drawings with features of the gut clearly visible. The detailed drawings of intestine from chick embryos aged 2.5 to 10 days were correlated with age of embryos and developmental stages described in three common staging systems, Hamilton and Hamburger, Thompson and Fitzharris, and Allan and Newgreen. Descriptions of key changes in gut morphology and position are given for each stage. This staging of chick gut development will allow future studies to quote and compare development of the gut rather than external features or incubation time. This will allow much more precise reporting and comparisons in developmental studies of cell migration and gene expression. Anat Rec Part A, 288A:909–920, 2006. © 2006 Wiley‐Liss, Inc.
Human ceruminous gland: Ultrastructure and histochemical analysis of antimicrobial and cytoskeletal components
Authors: Stoeckelhuber Mechthild , Matthias Christoph , Andratschke Michaela , Stoeckelhuber Beate M. , Koehler Claudia , Herzmann Sabine , Sulz Astrid , Welsch Ulrich 
Published: July 2006

AbstractThe ceruminous glands in the skin of the human external auditory canal are modified apocrine glands, which, together with sebaceous glands, produce the cerumen, the ear wax. Cerumen plays an important role in the protection of the ear canal against physical damage and microbial invasion. We studied the morphology of the glandular cells by light and electronmicroscopy. Antimicrobial and cytoskeletal components of the ceruminous glands were investigated by immunohistochemical methods. Numerous antimicrobial proteins and peptides are present in the ceruminous glandular cells: β‐defensin‐1, β‐defensin‐2, cathelicidin, lysozyme, lactoferrin, MUC1, secretory component of IgA. These data indicate a crucial role in the innate host defense against diverse pathogens. The apocrine secretion mechanism is a special mode of secretion by which the apical part of the cell cytoplasm surrounded by a membrane is pinched off. We could show that the presence of actin filaments, CK 19 and CK 7, seems to play a role in the pinching‐off mechanism. Finally, we showed the secretion of lipid vesicles from the ceruminous gland. We could extend the number of detected antimicrobial peptides and proteins in human ceruminous glandular cells that protect the surface of the external auditory meatus. In addition, we detected proteins involved in the apocrine secretion mode of the ceruminous gland. Anat Rec Part A, 288A:877–884, 2006. © 2006 Wiley‐Liss, Inc.
Conus arteriosus of the teleost heart: Dismissed, but not missed
Authors: Icardo José M. 
Published: July 2006

AbstractThe heart outflow tract (OFT) of primitive fish is formed by two portions: a proximal conus arteriosus and a distal bulbus arteriosus. The OFT of modern teleosts is considered to be formed by a single component, the bulbus, the conus having been lost through evolution. This article challenges the concept of the disappearance of the conus arteriosus in the teleost heart. A total of 28 teleost species belonging to 19 families and 10 orders were analyzed. The hearts were divided into two large groups: those having entirely trabeculated ventricles, and those possessing a compacta. In the hearts having entirely trabeculated ventricles, the conus arteriosus appears as a distinct segment interposed between the ventricle and the bulbus arteriosus, being formed by compact vascularized myocardium. However, the conus of several species lacks vessels. In these cases, the conus presents large intercellular spaces bounded by collagen. In the hearts possessing a ventricular compacta, the conus either appears as a muscular ring of variable length connecting the ventricle and the bulbus or forms a crown or ring of myocardium apposed to the ventricular base. In all the teleosts studied, the conus can be recognized as an anatomic entity different from the ventricle. Furthermore, the conus appears as a distinct heart segment in the developing fish. Therefore, the conus arteriosus has not been lost in evolution and constitutes a fundamental part of the teleost OFT. In all the species studied, the conus supports the OFT valves, which should properly be named conus valves. Anat Rec Part A, 288A:900–908, 2006. © 2006 Wiley‐Liss, Inc.
Looking for the lunate sulcus: A magnetic resonance imaging study in modern humans
Authors: Allen John S. , Bruss Joel , Damasio Hanna 
Published: July 2006

AbstractThe position of the lunate sulcus in fossil endocasts (when it can be determined) may serve as a potential marker of cognitive development in extinct hominid species. While the lunate sulcus is reliably present in the brains of great apes and forms the anterolateral boundary of the primary visual cortex, in humans its presentation is much more variable, and even if present, it does not correspond to a functional region. Grafton Elliot Smith, who named the lunate sulcus, claimed that it was homologous in humans and the great apes. Using high‐resolution MRI, we assessed the presence/absence and course of the lunate sulcus in 110 adult subjects. We found that in the vast majority of cases, lunate sulci identified on the surface of the occipital lobe are actually composed of smaller sulcal segments that converge into an apparently continuous composite lunate sulcus. We found only 3 examples in 220 hemispheres (1.4%) of continuous lunate sulci that resembled ape lunates in form (albeit in a more posterior position). Composite lunate sulci were found in 32.7% of left hemispheres and 26.4% of right hemispheres. These results, combined with those from histological and functional imaging studies, indicate that human and ape lunate sulci are not homologous structures. We suggest that the extent of functional reorganization of the occipital region during hominid evolution has been underestimated, and that changes in this region were not just passively shaped by expansion of parietal association cortex. Anat Rec Part A, 288A:867–876, 2006. © 2006 Wiley‐Liss, Inc.