bluuebunny/crossref_metadata_2025 huggingface dataset:
Comparative enzymology of 11β-hydroxysteroid dehydrogenase type 1 from six species
Authors: Arampatzis Spyridon , Kadereit Bert , Schuster Daniela , Balazs Zoltan , Schweizer Roberto A S , Frey Felix J , Langer Thierry , Odermatt Alex
Published: August 2005

11β-Hydroxysteroid dehydrogenase type 1 (11β-HSD1), catalyzing the intracellular activation of cortisone to cortisol, is currently considered a promising target to treat patients with metabolic syndrome; hence, there is considerable interest in the development of selective inhibitors. For preclinical tests of such inhibitors, the characteristics of 11β-HSD1 from the commonly used species have to be known. Therefore, we determined differences in substrate affinity and inhibitor effects for 11β-HSD1 from six species. The differences in catalytic activities with cortisone and 11-dehydrocorticosterone were rather modest. Human, hamster and guinea-pig 11β-HSD1 displayed the highest catalytic efficiency in the oxoreduction of cortisone, while mouse and rat showed intermediate and dog the lowest activity. Murine 11β-HSD1 most efficiently reduced 11-dehydrocorticosterone, while the enzyme from dog showed lower activity than those from the other species. 7-Ketocholesterol (7KC) was stereospecifically converted to 7β-hydroxycholesterol by recombinant 11β-HSD1 from all species analyzed except hamster, which showed a slight preference for the formation of 7α-hydroxycholesterol. Importantly, guinea-pig and canine 11β-HSD1 displayed very low 7-oxoreductase activities. Furthermore, we demonstrate significant species-specific variability in the potency of various 11β-HSD1 inhibitors, including endogenous compounds, natural chemicals and pharmaceutical compounds. The results suggest significant differences in the three-dimensional organization of the hydrophobic substrate-binding pocket of 11β-HSD1, and they emphasize that species-specific variability must be considered in the interpretation of results obtained from different animal experiments. The assessment of such differences, by cell-based test systems, may help to choose the appropriate animal for safety and efficacy studies of novel potential drug candidates.
Effects of glucagon-like peptide-1 and exendins on kinase activity, glucose transport and lipid metabolism in adipocytes from normal and type-2 diabetic rats
Authors: Sancho Verónica , Trigo María V , González Nieves , Valverde Isabel , Malaisse Willy J , Villanueva-Peñacarrillo María L
Published: August 2005

Several kinases have been implicated in the metabolic response of human and rat myocytes to glucagon-like peptide-1 (GLP-1), exendin-4 (Ex-4) and exendin-9 (Ex-9). We have investigated, in isolated rat adipocytes, the changes caused by GLP-1, Ex-4 and Ex-9 compared with those provoked by insulin or glucagon, upon the activity of phosphatidylinositol-3-kinase (PI3K), protein kinase B (PKB), p42/44 MAP kinases (MAPKs) and p70s6 kinase (p70s6k), and the participation of these kinases and protein kinase C (PKC) in their action upon 2-deoxy-d-glucose uptake, lipolysis and lipogenesis. The study was conducted in normal rats, and extended to a streptozotocin-induced type-2 diabetic model (STZ-rats). The participation of distinct kinases was estimated by using potential kinase inhibitors, including wortmannin, PD98059, rapamycin, H-7 and RO31–8220. In normal rat adipocytes, GLP-1 and both exendins share with insulin an increasing action upon the activity of all kinases studied (except PKB), PI3K, p44 and p42 MAPKs and possibly PKC, all being required for their stimulating effect upon glucose uptake. Ex-4 and Ex-9, like GLP-1 and insulin, have lipogenic action, while only Ex-4 shares with GLP-1 its lipolytic effect which is antagonized by Ex-9. MAP kinases and PKC seem to have an essential role in the GLP-1 and Ex-4 lipolytic action, as does PI3K in that of Ex-4. An increase in PI3K and MAPKs activity for the lipogenic effect of Ex-4, Ex-9 and GLP-1 are required, and in the case of Ex-4 and Ex-9, a stimulation of p70s6k activity is also needed. In cells from STZ-rats the magnitude of the above parameters was, in general, comparable to that in normal animals, with some exceptions: basal PI3K activity and lipogenesis were higher, GLP-1, Ex-4 and Ex-9 failed to modify basal lipogenesis but increased PKB activity, insulin failed to affect the activity of MAPKs and the insulin-induced glucose uptake was impaired. The impaired insulin effects upon some of the variables in the STZ-rat, distinct from those of GLP-1 and exendins, adds knowledge to the mechanism of the beneficial action of GLP-1 and Ex-4 in diabetic states.
Proteomic exploration of pancreatic islets in mice null for the α2A adrenergic receptor
Authors: Hu Xinran , Friedman David , Hill Salisha , Caprioli Richard , Nicholson Wendell , Powers Alvin C , Hunter Lawrence , Limbird Lee E
Published: August 2005

The present studies extend recent findings that mice null for the α2A adrenergic receptor (α2A AR KO mice) lack suppression of exogenous secretagogue-stimulated insulin secretion in response to α2 AR agonists by evaluating the endogenous secretagogue, glucose, ex vivo, and providing in vivo data that baseline insulin levels are elevated and baseline glucose levels are decreased in α2A AR KO mice. These latter findings reveal that the α2A AR subtype regulates glucose-stimulated insulin release in response to endogenous catecholamines in vivo. The changes in α2A AR responsiveness and resultant changes in insulin/glucose homeostasis encouraged us to utilize proteomics strategies to identify possible α2A AR downstream signaling molecules or other resultant changes due to perturbation of α2A AR expression. Although agonist stimulation of islets from wild type (WT) mice did not significantly alter islet protein profiles, several proteins were enriched in islets from α2A AR KO mice when compared with those from WT mice, including an enzyme participating in insulin protein processing. The present studies document the important role of the α2A AR subtype in tonic suppression of insulin release in response to endogenous catecholamines as well as exogenous α2 agonists and provide insights into pleiotropic changes that result from loss of α2A AR expression and tonic suppression of insulin release.
Suppressors of cytokine signaling proteins in human preterm placental tissues
Authors: Blumenstein M , Keelan J A , Bowen-Shauver J M , Mitchell M D
Published: August 2005

Decreased suppressors of cytokine signaling (SOCS) activity in human gestational tissues may play a part in the onset/progression of term labor. Since SOCS proteins negatively regulate cytokine-mediated inflammatory processes, we hypothesized that SOCS proteins are elevated in gestational tissues from spontaneous preterm deliveries with intrauterine infection. SOCS1, −2 and −3 mRNAs and proteins were detectable by RT-PCR and immunoblotting respectively, in preterm amnion, choriodecidua and placenta, irrespective of infection status. Immunoperoxidase staining localized SOCS1, −2 and −3 to all cell types of the gestational membranes, with infiltrating leukocytes reacting strongly in infected tissues. In villous placenta, SOCS was immunolocalized to the syncytiotrophoblast with marked staining of round mesenchymal cells, possibly Hofbauer cells. Nuclear SOCS staining was seen in amnion, chorion and placental syncytiotrophoblasts. SOCS proteins were, in general, significantly more abundant in placenta compared with amnion or choriodecidua. Placental SOCS1 and interleukin-1β concentrations were positively correlated (r2=0.47; P<0.05). However, no changes in SOCS levels in any tissues were observed with intrauterine infection. The relatively large amounts of SOCS proteins in the placenta may reflect a placenta-specific immunoprotective response to minimize the elaboration and effects of cytokines with potential to harm the placenta and fetus. Lack of labor-associated changes in SOCS levels suggests that the regulation of SOCS expression in preterm gestational tissues differs from those at term, perhaps reflecting roles in regulating placental somatotropic responses.
Agricultural Practices Influence Flow Regimes of Headwater Streams in Western Iowa
Authors: Tomer M. D. , Meek D. W. , Kramer L. A.
Published: August 2005

Agricultural tillage influences runoff and infiltration, but consequent effects on watershed hydrology are poorly documented. This study evaluated 25 yr (1971–1995) hydrologic records from four first‐order watersheds in Iowa's loess hills. Two watersheds were under conventional tillage and two were under conservation (ridge) tillage, one of which was terraced. All four watersheds grew corn (Zea mays L.) every year. Flow‐frequency statistics and autoregressive modeling were used to determine how conservation treatments influenced stream hydrology. The autoregressive modeling characterized variations in discharge, baseflow, and runoff at multi‐year, annual, and shorter time scales. The ridge‐tilled watershed (nonterraced) had 47% less runoff and 36% more baseflow than the conventional watershed of similar landform and slope. Recovery of baseflow after drought was quicker in the conservation watersheds, as evidenced by 365‐d moving average plots, and 67% greater baseflow during the driest 2 yr. The two conventional watersheds were similar, except the steeper watershed discharged more runoff and baseflow during short (<30 d), wet periods. Significant multi‐year and annual cycles occurred in all variables. Under ridge‐till, seasonal (annual‐cycle) variations in baseflow had greater amplitude, showing the seasonality of subsurface contaminant movement could increase under conservation practices. However, deviations from the modeled cycles of baseflow were also more persistent under conservation practices, indicating baseflow was more stable. Indeed, flow‐frequency curves showed wet‐weather discharge decreased and dry‐weather discharge increased under conservation practices. Although mean discharge increased in the conservation watersheds, variance and skewness of daily values were smaller. Ridge tillage with or without terraces increased stream discharge but reduced its variability.
Transport and Metabolic Fate of Sewage Particles in a Recipient Stream
Authors: Rauter Andrea , Weigelhofer Gabriele , Waringer Johann , Battin Tom J.
Published: August 2005

Although the implementation of wastewater treatment plants (WWTP) has dramatically increased the quality of surface waters in urbanized areas, WWTPs can still discharge noticeable amounts of solutes and particles to recipient streams. Although the fate of WWTP nutrients has received considerable attention, transport and in‐stream transformation of sewage‐derived particulate organic matter (SDPOM) have not. To investigate the transport and transformation of SDPOM in recipient streams, we experimentally injected fluorescently labeled SDPOM into a headwater stream and tracked its downstream fate at baseflow. Most SDPOM disappeared from the streamwater within a 160‐m long reach with an average deposition velocity of 0.14 mm s−1 We further coupled hydrometric measurements of specific water fluxes through the streambed interface with a mixing model to estimate streambed oxygen removal, and found significantly higher oxygen removal in the deposition (0.75 g O2 m−2 d−1) than in the downstream post‐deposition (0.36 g O2 m−2 d−1) subreach. Contrary to our expectations, we did not detect any apparent effect of SDPOM deposition on streambed clogging. Our results show the capacity of a recipient stream to retain SDPOM and to reduce its downstream export, and thus contribute to a better understanding of ecosystem services of human‐altered streams.
Long‐Lived Photoinduced Charge Separation Inside Polarity Gradient Capsules
Authors: Li L. , Möhwald H. , Spitz C. , von Seggern D. , Mucke M. , Menzel R.
Published: August 2005

Hollow capsules with polarity gradients can be built up by a layer‐by‐layer technique. After laser excitation, long‐lived charge separation was observed. Time‐dependent measurements, observing the decay of pyrene cation and anion absorption, show that the sample configuration has an influence that can be ascribed to the polarity gradient The charge separation can therefore be predicted due to the establishment of the polarity gradient over nanometer dimensions.
Effect of Taylor vortices on mass transfer from a rotating cylinder
Authors: Srinivasan R. , Jayanti S. , Kannan A.
Published: August 2005

Mass transfer from solids, which has important applications in a number of chemical and pharmaceutical industries, has been studied experimentally and semiempirically under turbulent flow conditions, and correlations are available in the literature to calculate the mass‐transfer coefficients from pellets, rotating cylinders and disks etc. However, mass transfer under laminar flow has not been sufficiently addressed. One of the difficulties here is the strong Reynolds number dependence of the flow pattern, for example, due to the onset of Taylor vortices for the case of a rotating cylinder. This problem is circumvented by using a computational fluid dynamics (CFD)‐based solution of the governing equations for the case of a cylinder rotating inside a stationary cylindrical outer vessel filled with liquid. The parameters cover a range of Reynolds number (based on the cylinder diameter, and the tangential speed of the cylinder), Schmidt number and the ratio of the outer to inner cylinder diameters. The results confirm that the circumferential velocity profile is a strong function of the Reynolds number and varies from a nearly Couette‐type flow at very low Reynolds numbers to a boundary layer‐like profile at high Reynolds numbers. The onset of Taylor vortices has a strong effect on the flow field and the mass‐transfer mode. The calculations show that the Sherwood number has a linear dependence on the Reynolds number in the Couette‐flow regime, and roughly square‐root dependence after the onset of Taylor vortices. Correlations have been proposed to calculate the Sherwood number taking account of these effects. © 2005 American Institute of Chemical Engineers AIChE J, 2005
Scale‐up effect of riser reactors: Particle velocity and flow development
Authors: Yan Aijie , Zhu Jesse (Jingxu)
Published: August 2005

The influence of riser diameter on the axial and radial particle velocity profiles and flow development is studied in a 10 m high twin‐riser system (76‐ and 203‐mm ID risers). Cross‐sectional average particle velocity is somewhat lower for the larger riser with a steeper radial particle velocity profile. The flow development in the riser center is nearly instant with the particle velocity remaining high. There is no significant difference for the two risers in the center region. In the wall region, the flow development is significantly slower and the particle velocity of the smaller riser is higher. The flow development slows down in the larger riser. In all locations measured, there was a clear dependency between the local particle velocity and solids concentration of both risers. Gas distribution and particle aggregation are considered the key factors that influence the local hydrodynamics in the twin‐riser system. © 2005 American Institute of Chemical Engineers AIChE J, 2005
Recent developments towards commercialization of solid oxide fuel cells
Authors: Gorte Raymond J.
Published: August 2005

Solid oxide fuel cells (SOFC) are receiving an increasing level of attention for both small‐ and large‐scale applications due their high fuel flexibility compared to other types of fuel cells. This article reviews recent work in SOFC materials research, with an emphasis on anodes that can directly utilize hydrocarbon fuels. © 2005 American Institute of Chemical Engineers AIChE J, 2005
Tentative assignment of gene for oto‐palato‐digital syndrome to distal Xq (Xq26–q28)
Authors: Hoar David I. , Field L. Leigh , Beards Francis , Hoganson George , Rollnick Beverly , Hoo Joe J.
Published: August 2005

Detailed physical mapping of oto‐palato‐digital (OPD) syndrome gene on the X‐chromosome was attempted on a family of 3 generations with 2 affected men. Although the result remains statistically non‐significant, it indicates that the OPD‐I gene might be located on the distal Xq.
Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy
Authors: Zhu Danping , Economou Effrosini P. , Antonarakis Stylianos E. , Maumenee Irene H.
Published: August 2005

Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by bilateral acute or subacute loss of central vision, primarily in young males. A G→A single base mutation at 11778nt of the mitochondrial genome which eliminates a SfaNI restriction site [Wallace et al., 1988; Holt et al., 1989; Hotta et al., 1989; Singh et al., 1989; Vilkki et al., 1989; Yoneda et al., 1989; Stone et al., 1990; Lott et al., 1990.] has been found in more than 60% of the families with LHON studied.

We studied 25 persons from 4 families with LHON using SfaNI and Mae III digestion of a 201 base pair polymerase chain reaction (PCR) product encompassing the 11778nt mutation. The loss of the SfaNI site and the acquisition of a Mae III site at 11778nt were identified in all maternal relatives of the LHON families studied. The mutation was heteroplasmic in all affected individuals, female carriers, and males at‐risk. The heteroplasmy of mitochondrial DNA (mtDNA) was also identified by direct DNA sequencing of PCR amplified mtDNA digested by SfaNI or Mae III. It appears that the proportion of the mutant mtDNA correlates with the severity of the disease.
Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)
Authors: Verloes Alain , Gillerot Yves , Walczak Elisabeth , Van Maldergem Lionel , Koulischer Lucien
Published: August 2005

We report on a stillborn boy with frontonasal malformation (Sedano‐J̌iràsek type D—DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy‐Walker malformation. Most cases are sporadic.
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA – patients with severe combined immunodeficiency (ADA – SCID)
Authors: Hirschhorn Rochelle , Ellenbogen Amy , Tzall Stephanie
Published: August 2005

Severe combined immunodeficiency (SCID) is a heterogeneous syndrome, due to X‐linked and autosomal recessive defects. A significant proportion of the autosomal recessive forms of SCID are due to mutations at the adenosine deaminase (ADA) locus. Nine different mutations at the ADA locus, including 7 missense point mutations, have been reported in children with ADA – SCID. We could detect 5 of the 7 missense mutations associated with ADA – SCID by alterations in restriction fragments utilizing standard restriction digestion of genomic DNA and hybridization of radiolabelled ADA genomic probes to Southern transfers. We additionally developed more rapid nonradioactive methods employing digestion of genomic DNA amplified by PCR that also detected all 5 mutations. Using these methods, we have examined a sample of 45 ADA – SCID chromosomes and report that these 5 missense mutations account for one third of the ADA – chromosomes studied, with 2 mutations being relatively common.
High frequencies of human genetic diseases: Founder effect with genetic drift or selection?
Authors: Zlotogora Joël
Published: August 2005

Rare genetic diseases have been reported with high frequency in some populations. The mechanisms which were proposed to explain most of these observations include founder effect, genetic drift or selective advantage. In recent years, many genes have been sequenced and mutations causing some of these disorders were characterized. According to the analysis of haplotypes and/or mutations, it may be possible to distinguish 3 groups of disorders frequent in isolated populations. In the first group, all the affected patients have only one frequent mutation, suggesting a founder effect with genetic drift. In the second group, more than one mutation is found among the patients; however, most of the patients are homozygotes for one frequent mutation which most probably originated from a common founder; the other patients are compound heterozygotes for the common mutation and a rare mutation. In the third group, more than one frequent mutation is found responsible for each disease. This may be due to a selective advantage which allows the expansion of each new mutation in the particular population or to multiple founder effect with genetic drift in smaller communities which thereafter mixed to form the larger population. © 1994 Wiley‐Liss, Inc.
Segmentation anomalies of the vertebras and ribs: A developmental field defect: Epidemiologic evidence
Authors: Martínez‐Frías M. L. , Urioste M.
Published: August 2005

Opitz has defined developmental field defects (DFD) as “any dysmorphogenetically reactive unit of the developing organism that leads to final structure.” We have incorporated in our coding system specific codes to identify individual DFDs in each child, irrespective of the cause or type of the MCA pattern (i.e., chromosomal, mendelian, environmental, or unknown). Using this approach, we can analyze the group of defects included in the expression of each DFD as a discrete unit.

To confirm our hypothesis that vertebral and rib anomalies constitute a DFD, we have studied all of our cases with segmentation anomalies of the spine and ribs, including hemivertebrae, fused or absent vertebrae, and “crab‐like” thorax, all of which fall into the loosely defined groups of spondylothoracic dysplasia, costovertebral dysplasia, Jarcho‐Levin syndrome, and others. The study was performed using the 18,743 malformed children from the ECEMC data files, 110 of them having vertebral/rib anomalies. © 1994 Wiley‐Liss, Inc.
Developmental field defects and associations: Epidemiological evidence of their relationship
Authors: Martínez‐Frías M. L.
Published: August 2005

Lubinsky [1986: Am J Med Genet 2:9–16] has defined associations as derivatives of causally nonspecific disruptive events acting on developmental fields. Opitz [1992: Second International Workshop on Fetal Genetic Pathology] considers developmental fields as the basic biologic units of individual development and of evolution, and has stated that associations represent the idiopathic occurrence of multiple congenital anomalies during blastogenesis. These concepts imply that associations represent the concurrence of a greater number of developmental field defects (DFDs) than other patterns of multiple anomalies.

The coding system for children with multiple congenital anomalies, developed in the Spanish Collaborative Study of Congenital Malformations (ECEMC), permits analysis of DFDs as morphogenetic units. Thus, we can study their presence in any type of MCA pattern, regardless of its etiology.

Here we present the analysis of a selected group of DFDs of blastogenic origin. Specifically, we have studied how the groups of defects, usually comprised in those specifics DFDs, are observed in children who present different clinical entities such as associations, embryopathies, syndromes of known etiology, and others. The results of our analysis show a greater concurrence of the selected DFDs in associations than in other MCA pattern, and support the concept of Lubinsky [1985: Am J Med Genet 21:35–38; 1986] and Opitz [1992]. © 1994 Wiley‐Liss, Inc.
Ectomorphic habitus, severe mental retardation, and characteristic face: A new MCA/MR syndrome?
Authors: Fryns J. P. , Smeets E. , Thiry P. , Geutjens J. , Vinken L. , Van den Berghe H.
Published: August 2005

Here we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre‐and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxiallary hypoplasia, large mouth with downturned corners, short philtrum and everted lower lip, associated with remarkable ectomorphic habitus. © 1994 Wiley‐Liss, Inc.
Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation
Authors: Tsuji Kazushiro , Narahara Kouji , Kikkawa Kiyoshi , Murakami Masae , Yokoyama Yuji , Ninomiya Shinsuke , Seino Yoshiki
Published: August 2005

Craniosynostosis (CRS) is frequently seen in the del(7p) syndrome, and the gene for this cranial anomaly (CRS1) has been assigned to 7p21. We present a 3‐year‐old boy with CRS involving the sagittal and coronal sutures, who had a de novo and apparently balanced translocation, t(6;7)(q16.2;p15.3). Southern blot analysis of several loci on 7p14 → pter showed that the patient was heterozygous for HOX1I and IL6, possibly homozygous for D7S149, but hemizygous for D7S135 with a loss of the paternal allele. These findings suggest the localization of a candidate gene for CRS1 to be on 7p15.3 in the close proximity to the D7S135 locus. © 1994 Wiley‐Liss, Inc.
Penoscrotal transposition: A case report and review
Authors: MacKenzie Jennifer , Chitayat David , McLorie Gordon , Balfe J. William , Pandit Paresh B. , Blecher Stan R.
Published: August 2005

We report on a boy born with complete penoscrotal transposition, normal scrotum, twisted penile shaft with hypoplastic penile urethra, meatal stenosis, normal bladder, and bilateral cystic dysplastic kidneys. The patient died of renal failure at 2.5 months. This is the 13th reported case of complete penoscrotal transposition with normal scrotum. The possible pathogenesis is discussed and the literature is reviewed. © 1994 Wiley‐Liss, Inc.
Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality
Authors: Migliori Maria Valeria , Cherubini Valentino , Bartolotta Edoardo , Pettinari Antonella , Pecora Rolando
Published: August 2005

We report on a case of ring chromosome 5 in a 36‐month‐old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chromosome 5 as consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. © 1994 Wiley‐Liss, Inc.
Parental consanguinity as a cause of increased incidence of birth defects in a study of 131, 760 consecutive birthsxs
Authors: Stoll Claude , Alembik Yves , Dott Béatrice , Feingold Josué
Published: August 2005

The risk for birth defects in the offspring of first cousin parents is substantially higher than in the offspring of non‐consanguineous parents. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies, we think that the answer to this question is “yes.” In the population studied in Northeastern France, consanguineous matings were known in 1.08% of the cases with congenital anomalies, vs. 0.28% in controls (P < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 38 malformed children, 24 were seen in first cousin matings (10.5 times more frequent than in offspring of nonconsanguineous couples), 8 in second cousin marriages, and 6 in more distantly consanguineous matings.

Consanguineous mothers were more often pregnant than nonconsanguineous mothers (P < 0.01) and they had more stillbirths than nonconsanguineous mothers. These results must be taken into account when counseling consanguineous couples. © 1994 Wiley‐Liss, Inc.
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients
Authors: Mäkitie Outi , Susic Miki , Ward Leanne , Barclay Catherine , Glorieux Francis H. , Cole William G.
Published: August 2005

The Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal dominant mutations of COL10A1, the gene which encodes α1(X) chains of type X collagen. We report the clinical and radiographic findings in 10 patients with MCDS and COL10A1 mutations. Six patients had lower limb deformities, which necessitated orthopedic surgeries in all of them. One patient demonstrated no deformities and normal stature at age 11 years (height −1.2 SDS) while the others manifested severe short stature (<−3.5 SDS). Radiographs showed metaphyseal changes which were most pronounced at the hips and knees. Five of the identified 10 mutations in COL10A1 were novel. Six mutations resulted in truncation of the NC1 domain while four mutations were single amino‐acid substitutions. Our findings suggest that COL10A1 mutations result in a uniform pattern of growth plate abnormalities. However, the clinical variability in severity among affected individuals is greater than previously thought. © 2005 Wiley‐Liss, Inc.
A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome
Authors: Ben‐Omran Tawfeg I. , Cerosaletti Karen , Concannon Patrick , Weitzman Sheila , Nezarati Marjan M.
Published: August 2005

The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency. We report a 4½‐year‐old boy who presented with acute T‐cell leukemia. The facial gestalt was strongly reminiscent of NBS. The patient died shortly after the onset of treatment for his T‐cell leukemia. Subsequent chromosome breakage studies showed a high rate of breakage in a fibroblast culture. Radiosensitivity was assessed by a colony survival assay; the results showed radiosensitivity greater than is typically seen in NBS. Mutation screening of the NBS1 gene was negative. Sequencing of the LIG4 gene revealed a homozygous truncating mutation 2440 C>T (R814X). Although this mutation has been previously noted in LIG4 syndrome, this patient is the first reported homozygote for the mutation. In this study, we review the clinical features of this rare syndrome and provide suggestions for differential diagnosis. © 2005 Wiley‐Liss, Inc.
Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family
Authors: Martínez‐Frías María Luisa , Toral Joaquín Fernández , López‐Grondona Fermina , Mendioroz Jacobo , Bermejo Eva
Published: August 2005

A second family with the condition first described by Frías et al. in 1975 is presented. Those authors examined a mother and her son affected with short stature, facial anomalies (epicanthic folds, downward palpebral fissures, hyperthelorism, and eyelid ptosis), cup‐shaped and posteriorly rotated ears, hand and foot defects, and delayed bone age. In the family we are presenting here, a girl, her mother, the mother's brother, and the propositus' maternal grandmother, were affected. This supports autosomal dominant inheritance, as proposed by (Frías et al. [1975] BDOAS 11:30–33), although with variable expressivity. © 2005 Wiley‐Liss, Inc.
Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation
Authors: McGaughran Julie , Sinnott Stephen , Moal Florence Dastot‐Le , Wilson Meredith , Mowat David , Sutton Bridget , Goossens Michel
Published: August 2005

Mowat–Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease. Heterozygous mutations or deletions involving the gene ZFHX1B (previously SIP1) [OMIM 605802] have recently been found to cause MWS. There have previously been no reports of a sibling recurrence of this syndrome. A brother and sister are described with clinical features of MWS, where both have the same truncating mutation in exon 8 of ZFHX1B. As their parents are phenotypically normal and do not have the mutation in lymphocyte‐derived DNA, the most likely explanation is germ‐line mosaicism. © 2005 Wiley‐Liss, Inc.
The etiology and genetics of wormian bones
Authors: Bennett Kenneth A.
Published: August 2005

The relationship between the length of the basi‐occiput and the presence of wormian bones is studied in 116 Negro, 113 White, and 50 Southwestern American Indian adult male crania. Among all three races, there is a statistically significant difference between those individuals who possess wormian bones and those who do not. Furthermore, the basi‐occiput length in the Negro, regardless of sutural bones, differs significantly from that in the White, but differences between the White and the American Indian were not present. It is suggested that wormian bones are not under direct genetic control, but instead represent secondary sutural characteristics which are brought about by stress.
Numerical aberrations in the permanent teeth of grade school children in Jerusalem
Authors: Rosenzweig Kurt A. , Garbarski Dalia
Published: August 2005

An epidemiologic survey on the occurence of hypo‐ and hyperdontia was carried out among the 28,000 grade school children of Jerusalem. While the first condition was more prevalent among girls, boys had more supernumery teeth. The rate of both anomalities was higher in children belonging to Oriental ethnic groups than in children of European origin, and in Israelis of second generation. The maxilla was more often involved than the mandible, and the tooth most often lacking was the maxillary lateral incisor. Most supernumerary teeth were of the type of the “mesiodens”.
Blood group investigations on the Carolinians and Chamorros of Saipan
Authors: Plato Chris C. , Rucknagel Donald L. , Kurland Leonard T.
Published: August 2005

A comparison of the frequencies of blood groups, haptoglobins, and hemoglobins of Chamorros and Carolinians of Saipan showed significant differences in the Rh, MNS, P, and Kidd systems. The differences were not of sufficient magnitude to exclude the possibility that the two groups were of the same ethnic origin. Thalassemia of the β variety was detected in two Chamorros, indicating the presence of this complex in Micronesians as well as in other ethnic groups of the southwestern Pacific.
Growth rates and phylogeny in primates
Authors: Gavan James A. , Swindler Daris R.
Published: August 2005

There is sufficient evidence to indicate that man grows for a longer period of time than chimpanzee who in turn has a greater duration of growth than rhesus monkey. The problem of this paper was to determine if there was a concomitant decrease in a rate of growth. Using the relative growth rate of Fisher ('21), it appears that for most of their period of growth, the rate of change is the same. Immediately after birth, when we have no data for children, rhesus monkey grows significantly faster than chimpanzee. By a year and a half their rates are the same, and neither species shows a sex difference. From seven years (age of youngest children) until children start through puberty, there is no sex difference in Homo sapiens, and the human rate does not differ from the chimpanzee rate. Because of the resemblance between the primate curve for rate and that for dairy cattle, it is postulated that this curve is more mammalian than primate and that during phylogeny the primates have merely increased the duration of time when growth is possible. Man does show one new feature, the puberal growth spurt, which is not found in the non‐human data considered.

The implications of these conclusions for primate phylogeny and for growth are discussed.
Genetic and selective factors in reduction of the hallux in Pongo pygmaeus
Authors: Tuttle Russell H. , Rogers Charles M.
Published: August 2005

Extreme reduction of the hallux is unique to the orang‐utan (Pongo pygmaeus) among Primates. Hallucal diminution has advanced so far that 60% of orang‐utans lack both distal phalanges and nails. Absence of these structures occurs significantly more often in females than in males. Hypotheses on possible genetic control of the condition have been tested and indicate that either single gene inheritance or polygenic inheritance with variable expressivity is involved. Reduction of pollex and of hallux in Pongo have advanced with selection for a specialized four‐digit grasp in hands and feet. Diminution has progressed farther in the great toe than in the thumb due to selection for fine manipulation in the latter digit.
Morphology of Liberian Negro deciduous teeth. I. odontometry
Authors: Moss Melvin L. , Chase Patricia S.
Published: August 2005

An odontometric study of the deciduous teeth of 21 Liberian Negro children is reported. These data were obtained from dental casts alone. Statistical comparisons were made of the mesiodistal diameter alone with two American White populations and the three Japanese populations. Maxillary teeth, with the exception of the cuspids were larger in the Negro sample, while only the Negro mandibular molars were significantly wider. This situation resulted in an alteration of Negro maxillary tooth size order. Comparisons were made with other populations reported in the literature which led us to stress the fact that, as yet, no satisfactory sample of deciduous tooth measurements are available for any population. A discussion of tooth form differences stresses the point that teeth differ in both attributes of form, i.e., in shape as well as in size between the several major racial groups. The processes by which these shape differences are brought about were discussed and it was suggested that differing relative growth rates may well be one cause. An allometric analysis of fetal molar tooth growth showed, again, that a sharp interphase occurs in all teeth, with a subsequent decrease in specific growth rate. This interphase corresponds to the initiation of cuspal calcification.
A comparative study of facial growth in Homo and Macaca
Authors: Enlow Donald H.
Published: August 2005

Sections were prepared throughout all areas of the various facial bones in young, growing Rhesus monkeys. The detailed distribution of resorptive and depository surfaces and the distribution of endosteal and periosteal bone tissue types were determined. From this information, the sequence of remodeling changes associated with the growth of the facial skeleton was then interpreted. This study is a sequal to previous reports in which growth and remodeling processes in the human face were described using similar procedures. In the present report, growth changes in the monkey and human facial skeleton are compared and contrasted. The general plan of facial growth is similar in both species, but major differences exist in the area of the muzzle. The maxillary arch in the monkey is entirely depository in nature, and it grows in a forward and downward direction as the maxillary tuberosity simultaneously grows backward. In the human, the forward part of the maxillary arch is resorptive in character. This contrasting growth factor results in a downward but not forward movement of this area. The result is decreased prognathism. Other differences in growth pattern exist in the forehead, malar, chin, and orbit. The developmental and phylogenetic basis for the upright human face is discussed and evaluated.
The distribution of anterior cervical hair in white and Negro males
Authors: Setty Laurel Raymond
Published: August 2005

Patterns of hair distribution of the front of the human neck are recognized. The basic patterns are supraclavicular, suprasternal and supraclaviculosuprasternal. They are correlated with the types of chest hair distribution.
Distribution of hereditary blood groups among Indians in South America. II. In Peru
Authors: Matson G. Albin , Sutton H. Eldon , Swanson Jane , Robinson Abner
Published: August 2005

Blood specimens were procured from the following putatively pure Indians of the Peruvian rain forest: 90 Piro and 89 Campa on the Urubamba and Tambo rivers, 142 Shipibo and 14 Isconahua on the Rio Ucayali near Yarinacocha, 151 Aguaruna at Santa Maria de Nieva, where the Marañon and Nieva rivers join, and from 122 Ticuna and 9 Yagua near the Brazilian border on the Amazon. Specimens from highland Indians were obtained from 93 Aymará and 181 Quechua at Puno and environs. These 891 specimens were tested for antigens in the A‐B‐O, M‐N‐S‐s, P, Rh‐Hr, Lutheran, K‐k, Lewis, Duffy, Kidd, and Diego (Dia) systems, and for the Wright (Wra) aglutinogen. Serum samples from these bloods were tested for haptoglobins and transferrins and hemolysates were prepared and examined for hemoglobin types. Results for these tests with claculated gene frequencies are presented, for the most part, on appropriate tables. A map is included to show the locations of the populations from which blood samples were procured.

As in South American Indians generally, frequencies are high for the O gene it being the only gene of the ABO system which appears in isolated jungle populations and the Aymará. Gene frequencies are usually high also for M, s, R1 (CDe), R2 (cDE), Lub, k, LeH, and Fya; and low or absent for A, B, N, S, Mia, Vw, Ro (cDe), r (cde), Lua, K, Le1, Fyb, and Wra. The Diego (Dia) gene is present but varies greatly in frequencies among tribes.

Hp1 gene frequencies vary from 0.44 to 0.69 among the Peruvian Indians tested.

Transferrin CD was encountered in only one population i.e., in 3 of 86 Piro (gene frequency TfD= 0.02). All others were C.

All Peruvian Indian bloods tested electrophoretically contained only hemoglobin (A) as a major component.
On the presence of cribra orbitalia in apes and monkeys
Authors: Nathan H. , Haas N.
Published: August 2005

One hundred and six skulls of various species of apes and monkeys were examined for the presence of cribra orbitalia. The condition was found in 15 (14.1%) of the animals. As in humans, cribra orbitalia was found localized mainly in the anterior parts of the orbital roof and appeared more frequently in infants and young animals. Only mild degrees of cribra orbitalia, i.e., the porotic type of lesions, were found in this series of animal skulls studied. More advanced degrees of development, as observed in human skulls, were not found. The etiology of the condition is not known; some type of nutritional deficiency is considered to be the most likely cause. The occurrence of cribra orbitalia in animals opens up possibilities of experimental work on the subject and may help to solve the problems of its etiology.
Body‐height and inbreeding in France
Authors: Schreider Eugène
Published: August 2005

Dahlberg's ('43) hypothesis that heterosis is a major component of the secular trend towards increased stature is supported by the significant negative correlation between stature and the coefficient of inbreeding in 70 departments of France. This phenomenon is especially evident after the onset of puberty, (r at age 7 = −0.25 for boys: −0.24 for girls; but r at age 14 = −0.44 for boys and −0.56 for girls) and is found also in adults.
Androgynic phenotypes in obese women
Authors: Craig Leela S. , Bayer Leona M.
Published: August 2005

A sample of 521 Caucasian women from an outpatient obesity clinic were classified by androgynic design. Photographs and outline sketches were obtained and eventually characteristic body outline patterns were developed. The distinct patterns of androgynic phenotypes were useful in recording the amount, distribution and texture of fat tissue. The phenotypic patterns remained relatively constant despite weight fluctuations.

In the group studied the magnitude of obesity and the age at which it first occurred were related to androgynic patterns. Early menarche and early onset of obesity were associated. Constitutional differences, as shown by the body outline drawings, are clinically useful in evaluating the kind and degree of obesity.
The skin of primates. XXXV. The skin of the squirrel monkey (Saimiri sciurea)
Authors: Machida H. , Perkins E. , Hu F.
Published: August 2005

The distribution of melanotic melanocytes in the skin of the squirrel monkey (Saimiri sciurea) is similar to that of the Cercopithecoidea studied. However, the arrangement of hair follicles, the number of hairs in the hair groups, and the presence of alkaline phosphatase in the peripheries of sebaceous acini resemble more those of the tree shrew (Tupaia glis) and owl monkey (Aötus trivirgatus). The absence of eccrine sweat glands from the hairy skin and the aggregation of apocrine sweat glands in the chest in the squirrel monkey resemble those found in the blackcollared tamarin (Tamarinus nigricollis) and owl monkey. The most outstanding peculiarities of the skin of the squirrel monkey are: (1) the presence of butyrylcholinesterase‐rich papillary nerve end‐organs in the friction surfaces and (2) hair follicle nerve end‐organs which are surrounded by melanotic melanocytes.
Studies on several genetic hematological traits of the Mexican population. XII. Distribution of blood group antigens in twelve Indian tribes
Authors: Cordova Maria S. , Lisker Ruben , Loria Alvar
Published: August 2005

Blood samples from 1090 Mexican Indians belonging to the Chol, Chontal, Totonac, Huastec, Mixe, Mazatec, Zapotec, Mixtec, Chinantec, Nahua, Cora and Huichol linguistic groups, were obtained and examined in regard to the following blood group antigens: A, B. M, N, P, C, c, D, E, e, Fy(a), K and Di(a).

The gene frequencies were similar to what has been described for other Amerindians; high values for O, M, CDe, cDE and Duffy; low to absent Kell and presence of Diego in variable amounts. The frequency of chromosomes CDE and cDe/cde was somewhat higher than usual and some of the tribes had relatively high frequencies of the A and B antigens. It was felt that variable degrees of non‐Indian admixture was at least partially responsible for this situation.

A previous study dealing with the distribution of abnormal hemoglobins and glucose‐6‐phosphate dehydrogenase deficiency in these same tribes, had strongly suggested the possibility of some Negro admixture in the Chontal, Nahua and Cora tribes. However, this was not specifically reflected in their blood group distribution. This served to emphasize the need of investigating as many markers as possible when trying to characterize a population.