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At least 793 records · Page 44Linked to original sources
PubMed2006

Interstitial deletion of a proximal 3p: a clinically recognisable syndrome.

Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies, plagiocephaly, broad forehead, broad nasal bridge, long philtrum and low set ears) and psychomotor/speech delay associated with an interstitial deletion of 3p12 chromosomal band, del(3)(p12p12). Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome.

Bradycardia↗
PubMed2006

Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome.

Hyper IgE recurrent infection syndrome (HIES, or Job's syndrome) is a primary immunodeficiency characterized by recurrent skin and lung infections, eczema, elevated serum immunoglobulin E (IgE) levels, and various connective tissue and skeletal system abnormalities including characteristic facies, scoliosis, joint hyperextensibility, retained primary dentition, craniosynostosis, osteopenia, and pathologic fractures. We have identified two patients with aneurysmal coronary artery disease. One was a forty-three-year-old man with HIES and coronary artery aneurysms and ectasia identified on cardiac catheterization following myocardial infarction. The other was a 48-year-old man with coronary artery ectasia-aneurysm identified after cardiac catheterization for evaluation of chest pain. Although connective tissue abnormalities are common in HIES, this is the first report of coronary artery aneurysms in HIES. Further studies are necessary to determine the incidence, pathogenesis, and optimal therapy of these arterial abnormalities in HIES.

Adult↗
PubMedDate not supplied

Dermatologic manifestations of parathyroid-related disorders.

Dermatologic manifestations of parathyroid-related disorders, although rare in sporadic cases, are not uncommon in familial syndromes. Patients with familial hyperparathyroidism have several types of skin lesions. In multiple endocrine neoplasia 1, patients commonly have angiofibromas (85%) and collagenomas (70%), lesions that show loss of one 11q13 allele, the molecular abnormality in multiple endocrine neoplasia 1. They can also present with lipomas or café-au-lait spots. Cutaneous amyloidosis, an entity that can occur sporadically, has been described in multiple endocrine neoplasia 2a and is usually localized to the interscapular area. Metastatic calcification is an entity commonly encountered in patients with hyperparathyroidism and renal failure. It can be complicated by infections and necrosis. It is best treated by controlling hypercalcemia, hyperphosphatemia, hyperparathyroidism, antibiotics, and analgesia. Parathyroidectomy is reserved for refractory cases. Hypoparathyroidism presenting in the context of polyglandular failure type 1 is characterized by mucocutaneous candidiasis. Pseudohypoparathyroidism, an inherited disorder with end-organ unresponsiveness to parathyroid hormone, is characterized by Albright hereditary osteodystrophy. Patients present with short stature, round facies, brachydactyly, and short fourth or fifth metacarpals.

Humans↗
PubMed2006

Morphometric analysis of face in dysmorphology.

Dysmorphology refers to study of human congenital malformations (birth defects). Most of the case reporting in dysmorphology is subjective and is based on experience of the reporting clinician. We have used the methods of geometric morphometrics to analyze the variation in faces of normal individuals and those with dysmorphic syndrome. We obtained photographs of 20 individuals with Rubinstein Taybi syndrome and 30 normal, age and sex matched individuals. The photographs were digitized with 16 landmarks on the face to obtain 32 "x" and "y" co-ordinates. These co-ordinates were then subjected to generalized procrustes superimposition in order to normalize for effects of size, rotation and position of image. The procrustes residuals thus obtained were then subjected to principal component analysis. The principal component analysis resulted in extraction of three important principal components explaining 41%, 17% and 14% of variance, respectively. Discriminant analysis could differentiate the two groups using first two principal component scores for each individual, with a predictive accuracy of 76% (Wilks lambda=0.725, chi2=15.09, d.f.=2, p=0.001). Binary logistic regression analysis showed predictive accuracy of 78% based on this model. The utility of the subjective evaluation of facial characteristics is multifold. The results of the analysis can be used as representatives of the facial dysmorphism for any genotype-phenotype association study. We conclude that application of the principles of geometric morphometrics to study of shape variation in facies of patients with dysmorphic syndromes appears to be a promising new area of research.

Adolescent↗
PubMed2004

Semantics, cross-cultural style.

Theories of reference have been central to analytic philosophy, and two views, the descriptivist view of reference and the causal-historical view of reference, have dominated the field. In this research tradition, theories of reference are assessed by consulting one's intuitions about the reference of terms in hypothetical situations. However, recent work in cultural psychology (e.g. Nisbett, R. E., Peng, K., Choi, I., & Norenzayan, A. (2001). Culture and systems of thought: holistic vs. analytic cognition. Psychological Review, 108, 291-310.) has shown systematic cognitive differences between East Asians and Westerners, and some work indicates that this extends to intuitions about philosophical cases (Weinberg, J., Nichols, S., & Stich, S. (2001). Normativity and epistemic intuitions. Philosophical Topics 29(1&2), 429-459.) In light of these findings on cultural differences, an experiment was conducted which explored intuitions about reference in Westerners and East Asians. The experiment indicated that, for certain central cases, Westerners are more likely than East Asians to report intuitions that are consistent with the causal-historical view. These results constitute prima facie evidence that semantic intuitions vary from culture to culture, and the paper argues that this fact raises questions about the nature of the philosophical enterprise of developing a theory of reference.

Adult↗
PubMed2005

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation.

A 2 month old male infant was found to have mild growth retardation, prominent forehead, low set ears, low nasal bridge, rounded facies, cleft palate, webbed neck, shawl scrotum, and absent right kidney. The propositus, a product of a consanguineous marriage, had extremely rare abnormal cytogenetic findings. His karyotype contained three derivative chromosomes that originated from a familial translocation, t(16;18)(p13.3;p11.2) carried by both parents. Based on parental studies, the infant's unbalanced karyotype was defined as: [46,XY,t(16;18)(p13.3;p11.2), der(18)t(16;18).ish t(16;18)(16ptel-,16qtel+,18ptel+,wcp16+,wcp18+;16ptel+,18ptel-,wcp16+,wcp18+), der(18)t(16;18)(16ptel+,18ptel-,wcp16+,wcp18+)]. We describe this child at 2 months of age with a follow up at 4 1/2 years, exhibiting a mixed clinical picture with features of both 18p- and partial trisomy 16p13.3.

Abnormalities, Multiple↗
PubMed2005

Germ-line and somatic PTPN11 mutations in human disease.

Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream intracellular transducers is a major regulatory mechanism used to modulate cellular responses to extracellular stimuli, and its deregulation frequently drives aberrant cell proliferation, survival and/or differentiation. SHP-2 is a cytoplasmic Src-homology 2 domain-containing protein tyrosine phosphatase that plays an important role in intracellular signaling and is required during development and hematopoiesis. Germ-line missense mutations in PTPN11, the gene coding SHP-2, have been discovered as a major molecular event underlying Noonan syndrome, an autosomal dominant trait characterized by short stature, dysmorphic facies, and congenital heart defects, as well as in other closely related developmental disorders. More recently, a distinct class of missense mutations in the same gene has been identified to occur as a somatic event contributing to myeloid and lymphoid malignancies. This review focuses on the role of SHP-2 in signal transduction, development and hematopoiesis, as well as on the consequences of SHP-2 gain-of-function.

Animals↗
PubMed2006

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.

Pericentric inversion of chromosome 19 appears to be a rare abnormality with only a few families reported. As far as we are aware, none of them were ascertained because of a recombinant individual. We describe the first identified case due to an affected patient, with duplication deficiency for chromosome 19 arising from a maternal inversion confirmed by FISH and CGH. His features included prenatal growth retardation, microcephaly, dysmorphic facies, congenital heart defect, hypoplasia of corpus callosum and psychomotor delay. The identification of recombinant individuals contribute to calculate a precise risk for inv (19) carriers and to provide a more accurate genetic counselling.

Abnormalities, Multiple↗
PubMed2006

A benign congenital myopathy in an inbred Samaritan family.

We describe a novel form of myopathy in a mother and her two daughters from an inbred Samaritan family. The patients displayed severe neonatal hypotonia, lethargy and dysmorphic features. Motor milestones were delayed; however, the hypotonia and muscle weakness gradually improved during the first 2 years of life and independent walking was achieved by 18 months. The mother at the age of 23 years shows myopathic facies and minimal proximal weakness. Her intelligence is normal. Her muscle biopsy revealed central nuclei and disruption of the intermyofibrillary network with moth eaten and spiral fibers. Mutations in SMN, MTM1 and the myotonic dystrophy genes were excluded. We suggest this is a new benign form of congenital myopathy. Inheritance is probably autosomal recessive.

Abnormalities, Multiple↗
PubMed2005

A case of Mobius syndrome--radiological and electrophysiological findings.

Mobius syndrome is characterized by congenital bilateral facial palsy and abducens nerve paralysis, but reports of radiological and electrophysiological findings are scarce. A 4-year-old boy presented with mask-like facies noted at birth after a 34-week pregnancy. Examination revealed bilateral facial and abducens nerve paralysis with no other neurological abnormalities. Computed tomography revealed bilateral absence of facial nerve canal in the middle ear. Brain magnetic resonance imaging indicated a narrow than expected nerve in the internal auditory canal (IAC). Evoked electromyography and blink reflex testing to evaluate facial nerve function yielded no responses bilaterally. Facial palsy thus appears to be caused by facial nerve dysplasia or aplasia.

Blinking↗
PubMed2006

Death following tonsillectomy in a child with Williams syndrome.

Williams syndrome (WS) is an uncommon genetic syndrome due to a deletion of several genes on chromosome 7. The syndrome is associated with dysmorphic facies, neurological manifestations, idiopathic hypercalcemia, and cardiac abnormalities, particularly supravalvular aortic stenosis (SVAS). Children with Williams syndrome may have chronic serous otitis media and/or obstructive sleep apnea. Hyperacusis is also commonly seen in these children. We report a case of sudden death at the time of tonsillectomy/adenoidectomy and bilateral tympanostomy tube placement in a child with Williams syndrome. All children with Williams syndrome should have a thorough cardiac evaluation before undergoing general anesthesia for any otolaryngologic procedure.

Adenoidectomy↗
PubMed2005

Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome.

Bannayan-Riley-Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital lentiginosis, and intestinal polyposis. Characteristic mucocutaneous manifestations include vascular malformations, lipomatosis, speckled lentiginosis of the penis or vulva, facial verrucae-like or acanthosis nigricans-like lesions, and multiple acrochordons of the neck, axilla, and groin. We present a case of Bannayan-Riley-Ruvalcaba syndrome with macrocephaly, abnormal facies, lipoma, tender and painful arteriovenous hemangiomas, lymphangiokeratomas, musculoskeletal abnormalities, and localized myopathy. We also describe previously unreported findings, including peripheral neuropathy, punctate cystic changes in acral tubular bones, and enostosis of talus. Bannayan-Riley-Ruvalcaba syndrome needs recognition by dermatologists because affected patients may present with mucocutaneous and subcutaneous lesions that may simulate other dermatological disorders.

Abnormalities, Multiple↗
PubMed2005

Ophthalmologic findings in the Cornelia de Lange Syndrome.

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a disorder caused in many patients by a mutation in the NIPBL gene with a dominant pattern of inheritance characterized by mental retardation, prenatal and postnatal growth retardation, upper-limb abnormalities, and characteristic facies. Few data exist concerning the ophthalmic findings in this syndrome. METHODS: One hundred twenty individuals with CdLS underwent ophthalmic examination to ascertain the relative frequencies of oculofacial and ophthalmic abnormalities. RESULTS: We confirmed the frequent findings of synophrys (99%), long lashes (99%), hypertrichosis of the brows (96%), ptosis (44%), epiphora (22%), nasolacrimal duct obstruction (16%), blepharitis (25%), and myopia (58%). In addition, we found peripapillary pigment (83%), and microcornea (21%), which have infrequently been mentioned in the literature. CONCLUSION: Patients with CdLS can have multiple eye problems. Many of these problems can be readily treated, including myopia, blepharitis, nasolacrimal duct obstruction, and ptosis. Early examination is recommended for all children known or suspected to have CdLS.

Adolescent↗
PubMed2005

Experiments on vertical transverse mixing in a large-scale heterogeneous model aquifer.

Vertical transverse mixing is known to be a controlling factor in natural attenuation of extended biodegradable plumes originating from continuously emitting sources. We perform conservative and reactive tracer tests in a quasi two-dimensional 14 m long sand box in order to quantify vertical mixing in heterogeneous media. The filling mimics natural sediments including a distribution of different hydro-facies, made of different sand mixtures, and micro-structures within the sand lenses. We quantify the concentration distribution of the conservative tracer by the analysis of digital images taken at steady state during the tracer-dye experiment. Heterogeneity causes plume meandering, leading to distorted concentration profiles. Without knowledge about the velocity distribution, it is not possible to determine meaningful vertical dispersion coefficients from the concentration profiles. Using the stream-line pattern resulting from an inverse model of previous experiments in the sand box, we can correct for the plume meandering. The resulting vertical dispersion coefficient is approximately approximately 4 x 10(-)(9) m(2)/s. We observe no distinct increase in the vertical dispersion coefficient with increasing travel distance, indicating that heterogeneity has hardly any impact on vertical transverse mixing. In the reactive tracer test, we continuously inject an alkaline solution over a certain height into the domain that is occupied otherwise by an acidic solution. The outline of the alkaline plume is visualized by adding a pH indicator into both solutions. From the height and length of the reactive plume, we estimate a transverse dispersion coefficient of approximately 3 x 10(-)(9) m(2)/s. Overall, the vertical transverse dispersion coefficients are less than an order of magnitude larger than pore diffusion coefficients and hardly increase due to heterogeneity. Thus, we conclude for the assessment of natural attenuation that reactive plumes might become very large if they are controlled by vertical dispersive mixing.

Coloring Agents↗
PubMed2005

Relocation of the 1936 Mojokerto skull discovery site near Perning, East Java.

The fossil calvaria known as the Mojokerto child's skull was discovered in 1936, but uncertainties have persisted about its paleoenvironmental context and geological age because of difficulties in relocating the discovery site. Past relocation efforts were hindered by inaccuracies in old base maps, intensive post-1930s agricultural terracing, and new tree and brush growth. Fortunately geologic cross sections and site photographs from 1936-1938-not fully utilized in past relocation fieldwork-closely circumscribe site geography and geology. These documents match the conditions at just one sandstone outcrop. It is situated on the southern margin of a topographic nose at the upper end of a approximately 18 m-wide gully ( approximately 0663760 m E, 9183430 m N, UTM Zone 49 M), approximately 15 m southeast of the Kumai et al. (1985) relocation. The relocated discovery bed is approximately 3.3 m of fossiliferous pebbly sandstone, a river-channel deposit cut into tuffaceous mudstone. The sandstone and mudstone beds correspond to original site descriptions. Pebbly sandstone is also found within the skull. The calvaria is well-preserved and taphonomically similar to large and fragile specimens found among several hundred vertebrate fossils excavated from the sandstone in 2001-2002. Since no well-preserved fossils were found intact at the surface of the sandstone, the good condition of the Mojokerto skull suggests that it was buried fully when discovered. The relocated hominin bed is the uppermost fluvial sandstone of a marine-deltaic sequence in the upper Pucangan Formation. The Mojokerto child probably died along the ancient seacoast, judging from the large extent of the deltaic facies and evidence that the calvaria experienced minimal transport. The relocated discovery bed is approximately 20 m stratigraphically above the horizon from which the widely cited 1.81+/-0.04 Ma (40)Ar/(39)Ar date for the skull was obtained. Additional field and laboratory results will be required to determine the skull's age.

Animals↗
PubMed2006

Middle Pleistocene handaxes from the Korean Peninsula.

We present four biface assemblages from an archaeologically poorly known region of the Old World: Middle Pleistocene Korea. The handaxes are derived from a series of Middle Pleistocene localities in the Imjin/Hantan River Basins (IHRB) in Korea. The best known of these localities is Chongokni, although a number of equally important sites in the IHRB have been discovered and excavated over the course of the past two decades (e.g., Kumpari, Chuwoli, and Kawoli). Reanalysis of the age of the Chongokni deposits suggests a hominin occupation between 350-300 ka. Comparative study of the IHRB handaxes with the well-known bifacial implements from Olorgesailie (Kenya) and Hunsgi-Baichbal (India) indicates that the often-noted "thick" trait of the East Asian handaxes differs at a statistical level across the various regions of the Old World. The finds from the IHRB sites, and the Chinese sites of Bose and Dingcun that contain handaxes-like implement, question the validity of the Movius Line sensu stricto. However, why East Asian Middle Pleistocene hominins did not consistently produce more refined bifaces across broader regional and/or temporal facies, remains open to question. Thus, the absence of similar sites in wider areas of Early and Middle Pleistocene East Asia suggests that the Movius Line sensu lato is still supportable and warrants additional detailed cross comparative studies of the stone toolkits east and west of the line.

Animals↗
PubMed2006

Somatoform disorders in DSM-IV: mental or physical disorders?

OBJECTIVE: To examine analytically the question of whether the characterization of somatoform disorders (SFDs) in Diagnostic and Statistical Manual, Fourth Edition (DSM-IV) provides adequate grounds for classifying them as mental disorders rather than as physical disorders. METHODS: Analytical examination. RESULTS: There are prima facie grounds for classifying SFDs as physical disorders since they are characterized by physical symptoms. The characterization of SFDs in DSM-IV does not provide adequate grounds for classifying them as mental disorders. CONCLUSION: The spectrum of SFDs is drawn too widely in DSM-IV. At least some of the conditions now listed as SFDs in DSM-IV should be either given a dual diagnosis or classified simply as physical disorders.

Diagnosis, Differential↗
PubMed2005

Accuracy in the estimation of quantitative minimal area from the diversity/area curve.

The problem of representativity is fundamental in ecological studies. A qualitative minimal area that gives a good representation of species pool [C.M. Bouderesque, Methodes d'etude qualitative et quantitative du benthos (en particulier du phytobenthos), Tethys 3(1) (1971) 79] can be discerned from a quantitative minimal area which reflects the structural complexity of community [F.X. Niell, Sobre la biologia de Ascophyllum nosodum (L.) Le Jolis en Galicia, Invest. Pesq. 43 (1979) 501]. This suggests that the populational diversity can be considered as the value of the horizontal asymptote corresponding to the curve sample diversity/biomass [F.X. Niell, Les applications de l'index de Shannon a l'etude de la vegetation interdidale, Soc. Phycol. Fr. Bull. 19 (1974) 238]. In this study we develop a expression to determine minimal areas and use it to obtain certain information about the community structure based on diversity/area curve graphs. This expression is based on the functional relationship between the expected value of the diversity and the sample size used to estimate it. In order to establish the quality of the estimation process, we obtained the confidence intervals as a particularization of the functional (h-phi)-entropies proposed in [M. Salicru, M.L. Menendez, D. Morales, L. Pardo, Asymptotic distribution of (h,phi)-entropies, Commun. Stat. (Theory Methods) 22 (7) (1993) 2015]. As an example used to demonstrate the possibilities of this method, and only for illustrative purposes, data about a study on the rocky intertidal seawed populations in the Ria of Vigo (N.W. Spain) are analyzed [F.X. Niell, Estudios sobre la estructura, dinamica y produccion del Fitobentos intermareal (Facies rocosa) de la Ria de Vigo. Ph.D. Mem. University of Barcelona, Barcelona, 1979].

Algorithms↗