bluuebunny/crossref_metadata_2025 huggingface dataset:
Infinit-dimensionale Regelung eines Brückenkranes mit schweren Ketten (Infinite-dimensional Control of a Gantry Crane with Heavy Chains)
Authors: Thull Daniel , Wild Daniel , Kugi Andreas
Published: August 2005

Ein flachheitsbasiertes Steuerungskonzept wird zusammen mit einem passivitätsbasierten Reglerentwurfsverfahren auf das infinit-dimensionale Modell eines Brückenkranes mit schweren Ketten angewandt. Es zeigt sich, dass mit der Position der Last ein flacher Ausgang des Systems gegeben ist, mit dessen Hilfe eine sehr elegante systematische Trajektorienplanung ermöglicht wird. Der das Trajektorienfehlersystem stabilisierende Regler wird so entworfen, dass einerseits Schwingungen der Ketten möglichst gut gedämpft werden, andererseits die gewünschte Wagenposition stabilisiert wird und darüber hinaus der Regler robust gegenüber den im realen System auftretenden Haftreibungserscheinungen ist. Diese Ziele können durch Anwenden der passivitätsbasierten Reglerentwurfstheorie in Kombination mit dem Integrator-Backstepping Entwurf auf systematische und physikalisch anschauliche Art und Weise erreicht werden. Der Beweis der asymptotischen Stabilität des geschlossenen Kreises beruht auf der Operatoren-Halbgruppentheorie und dem für infinit-dimensionale Systeme generalisierten Invarianzprinzip von LaSalle. Simulations- und Messergebnisse eines Laborexperimentes zeigen die hervorragende Güte des vorgeschlagenen Regelungskonzeptes.
High glucose-induced impairment in insulin secretion is associated with reduction in islet glucokinase in a mouse model of susceptibility to islet dysfunction
Authors: Kooptiwut Suwattanee , Kebede Melkam , Zraika Sakeneh , Visinoni Sherley , Aston-Mourney Kathryn , Favaloro Jenny , Tikellis Chris , Thomas Merlin C , Forbes Josephine M , Cooper Mark E , Dunlop Marjorie , Proietto Joseph , Andrikopoulos Sofianos
Published: August 2005

Type 2 diabetes is characterized by islet dysfunction resulting in hyperglycemia, which can then lead to further deterioration in islet function. A possible mechanism for hyperglycemia-induced islet dysfunction is the accumulation of advanced glycation end products (AGE). The DBA/2 mouse develops pancreatic islet dysfunction when exposed to a high glucose environment and/or obesity-induced insulin resistance. To determine the biochemical cause of dysfunction, DBA/2 and C57BL/6 control islets were incubated in 11.1 mM or 40 mM glucose in the absence or presence of the AGE inhibitor aminoguanidine (AG) for 10 days. Basal (2.8 mM glucose) insulin release was increased in both DBA/2 and C57BL/6 islets incubated with 40 mM vs 11.1 mM glucose for 10 days. Chronic exposure to hyperglycemia decreased glucose (20 mM)-stimulated insulin secretion in DBA/2 but not in C57BL/6 islets. AG significantly increased fold-induced insulin release in high glucose cultured DBA/2 mouse islets, but did not affect C57BL/6 islet function. DBA/2 islet glucokinase was significantly reduced following 40 mM glucose culture, compared with 11.1 mM glucose cultured DBA/2 islets and 40 mM glucose cultured C57BL/6 islets. Incubation of islets with AG resulted in a normalization of DBA/2 islet glucokinase levels. In conclusion, chronic high glucose-induced increases in AGE can result in islet dysfunction and this is associated with reduced glucokinase levels in a mouse model with susceptibility to islet failure.
Gene expression profile in rat pancreatic islet and RINm5F cells
Authors: Wang H , Horikawa Y , Jin L , Narita T , Yamada S , Shihara N , Tatemoto K , Muramatsu M , Mune T , Takeda J
Published: August 2005

To clarify tissue-specificity of pancreatic β cells, comparison of mRNA expression in various conditions of the tissue of multiple organisms is important. Although the developed methodologies for mRNA monitoring such as microarray, rely on the growth of dbEST (database of expressed sequence tag), a large number of unknown genes in the genome, especially in the rat, have not been shown to be expressed. In this study, we have established the first database of ESTs from rat pancreatic islet and RINm5F cells. Two cDNA libraries were constructed using mRNAs from rat pancreatic islet and RINm5F cells to cover a wider spectrum of expressed genes. Over 40 000 clones were randomly selected from the two libraries and partially sequenced. The sequences obtained were subjected to BLAST database analyses. This large-scale sequencing generated 40 710 3′-ESTs. Clustering analysis and homology search of nucleotide and peptide databases using both 3′- and 5′-ESTs revealed 10 406 non-redundant transcripts representing 4078 known genes or homologs and 6328 unknown genes. To confirm actual expression, the unknown sequences were further subjected to dbEST search, resulting in the identification of 5432 significant matches to those from other sources. Interestingly, of the remaining sequences showing no match, 779 were found to be encoded by exon–intron organization in the corresponding genomic sequences, suggesting that these are newly found as actually expressed in this study. Since many genes are up- or down-regulated in differing conditions, applications of the expression profile should facilitate identification of the genes involved in cell-specific functions in normal and disease states.
Pituitary homeobox 1 (Pitx1) stimulates rat LHβ gene expression via two functional DNA-regulatory regions
Authors: Jiang Qiaorong , Jeong Kyeong-Hoon , Horton Cheryl D , Halvorson Lisa M
Published: August 2005

Luteinizing hormone (LH) plays a central role in the reproductive axis, stimulating both gonadal steroid biosynthesis and the development of mature gametes. Over the past decade, significant progress has been made in characterizing the transcription factors and associated DNA-regulatory sites which mediate expression of the LH β-subunit gene (LHβ). One of these factors, pituitary homeobox 1 (Pitx1), has been shown to stimulate LHβ gene promoter activity, both alone and in synergy with the orphan nuclear receptor, steroidogenic factor-1 (SF-1), and the early growth response gene 1 (Egr-1). Prior reports have attributed the Pitx1 response to a cis-element located at position -101 in the rat LHβ gene promoter. While investigating the role of Pitx1 in regulating rat LHβ gene expression, we observed a small, but significant, residual Pitx1 response despite mutation or deletion of this site. In the studies presented here, we identify the presence of a second functional Pitx1 region spanning positions −73 to −52 in the rat LHβ gene promoter. Based on electrophoretic mobility shift assay, Pitx1 binds to both the initially described 5′Pitx1 site as well as this putative 3′Pitx1 region. In transient transfection analysis, mutation of the LHβ-3′Pitx1 site significantly blunted Pitx1 responsiveness, with elimination of the Pitx1 response in a construct containing mutations in both Pitx1 cis-elements. We also analyzed the importance of each of these Pitx1 sites for providing functional synergy with SF-1 and with Egr-1. We observed a markedly decreased synergistic response with mutation of the 5′Pitx1 site with further loss following mutation of the 3′Pitx1 site. In contrast, functional interaction between Pitx1 and Egr-1 persisted with mutation of both Pitx1 regions. We conclude that Pitx1 stimulates the rat LHβ gene promoter via two Pitx1 DNA-regulatory regions. These results further our understanding of the molecular mechanisms that regulate expression of this critical reproductive gene promoter.
Differential gene expression between Zucker Fatty rats and Zucker Diabetic Fatty rats: a potential role for the immediate-early gene Egr-1 in regulation of beta cell proliferation
Authors: Garnett Kay E , Chapman Philip , Chambers Julie A , Waddell Ian D , Boam David S W
Published: August 2005

The β-cell failure that characterises type 2 diabetes is likely to involve altered expression of many genes. We aimed to identify global changes in gene expression underlying β-cell dysfunction in pre-diabetic Zucker Diabetic Fatty rat islets, followed by functional studies to verify our findings. Gene expression profiles in islets from 6-week-old Zucker Diabetic Fatty rats and Zucker Fatty rat controls were analysed using Affymetrix microarrays. Totally 977 genes were found to be differentially regulated, comprising large groups of membrane and structural proteins, kinases, channels, receptors, transporters, growth factors and transcription factors. We are particularly interested in transcription factors, which can have profound effects on cellular function. Thus a subset of those with no role yet defined in the β-cell was selected for further study namely the immediate-early gene Egr-1, PAG608, rCGR19 and mSin3b. Tissue specificity of these factors varied but interestingly Egr-1 expression was highly enriched in the pancreatic islet. To determine a possible role of Egr-1 in the β-cell, Egr-1 expression in INS-1 cells was silenced using RNA interference (RNAi). Glucose-stimulated insulin secretion in these cells was then measured using ELISA and cell proliferation was measured by [3H]thymidine incorporation. Small interfering RNA (siRNA)-mediated silencing of the Egr-1 gene inhibited its induction by glucose but had no observable effect on glucose-stimulated insulin secretion. However, Egr-1 gene silencing did inhibit proliferation of INS-1 cells in a glucose-independent manner. Our studies have revealed a role for Egr-1 and suggest that reduced Egr-1 gene expression may contribute to decreased β-cell proliferation and the consequent β-cell failure observed in the later stages of type 2 diabetes.
Cloning, expression and characterization of three types of 17β-hydroxysteroid dehydrogenases from the Nile tilapia, Oreochromis niloticus
Authors: Zhou L Y , Wang D S , Senthilkumaran B , Yoshikuni M , Shibata Y , Kobayashi T , Sudhakumari C C , Nagahama Y
Published: August 2005

In order to elucidate the roles of 17β-HSDs in fish gonadal steroidogenesis, three types of 17β-HSDs (17β-HSD1, 17β-HSD8 and putative 17β-HSD12) were cloned and characterized from the Nile tilapia, Oreochromis niloticus. The cloned cDNAs of 17β-HSD type 1, 8 and 12 were 1504, 1006 and 1930 bp long, with open reading frames encoding proteins of 289, 256 and 314 aminoacids, respectively. Tissue distribution pattern analyzed by RT-PCR and Northern blot showed that 17β-HSD1 was dominantly expressed in the ovary, while the putative 17β-HSD12, one of the two duplicates found in fish, is a male specific enzyme and expressed exclusively in testis (detected by RT-PCR only). On the other hand, 17β-HSD8 was expressed in the brain, gill, heart, liver, intestine, gonad, kidney and muscle of both male and female. Enzymatic assays of the three types of 17β-HSDs were performed using recombinant proteins expressed in E. coli or HEK 293 cells. Tilapia 17β-HSD1 expressed in E. coli had the preference for NADP(H) as cofactor and could catalyze the inter-conversion between estrone and estradiol efficiently as well as the inter-conversion between androstenedione and testosterone, but less efficiently. Tilapia 17β-HSD8 recombinant protein expressed in HEK 293 cells could catalyze the conversion of testosterone to androstenedione, as well as the inter-conversion between estrone and estradiol. However, the putative 17β-HSD12 expressed in E. coli or in HEK 293 cells showed no conversion to any of the four substrates tested in this study. Based on enzyme characterization and tissue distribution, it is plausible to attribute crucial roles to 17β-HSDs in the gonadal steroidogenesis of teleosts.
Internalization of gonadotropin-releasing hormone receptors (GnRHRs): does arrestin binding to the C-terminal tail target GnRHRs for dynamin-dependent internalization?
Authors: Hislop James N , Caunt Christopher J , Sedgley Kathleen R , Kelly Eammon , Mundell Stuart , Green Lisa D , McArdle Craig A
Published: August 2005

Activation of seven-transmembrane receptors is typically followed by desensitization and arrestin-dependent internalization via vesicles that are pinched off by a dynamin collar. Arrestins also scaffold Src, which mediates dynamin-dependent internalization of β2-adrenergic receptors. Type I mammalian gonadotropin-releasing hormone receptors (GnRHRs) do not rapidly desensitize or internalize (characteristics attributed to their unique lack of C-terminal tails) whereas non-mammalian GnRHRs (that have C-terminal tails) are rapidly internalized and desensitized. Moreover, internalization of Xenopus (X) GnRHRs is dynamin-dependent whereas that of human (h) GnRHRs is not, raising the possibility that binding of arrestin to the C-terminal tails of GnRHRs targets them to the dynamin-dependent internalization pathway. To test this we have compared wild-type GnRHRs with chimeric receptors (XGnRHR C-terminal tail added to the hGnRHR alone (h.XtGnRHR) or with exchange of the third intracellular loops (h.Xl.XtGnRHR)). We show that adding the XGnRHR C-terminal tail facilitates arrestin- and dynamin-dependent internalization as well as arrestin/green fluorescent protein translocation, but Src (or mitogen-activated protein kinase/extracellular-signal-regulated kinase kinase) inhibition does not slow internalization, and h.XtGnRHR internalization is slower than that of the hGnRHR. Moreover, arrestin expression increased XGnRHR internalization even when dynamin was inhibited and h.Xl.XtGnRHR underwent rapid arrestin-dependent internalization without signaling to Gq/11. Thus, although the C-terminal tail can direct GnRHRs for arrestin- and dynamin-dependent internalization, this effect is not dependent on Src activation and arrestin can also facilitate dynamin-independent internalization.
Identification and characterization of a response element in the EGFR promoter that mediates transcriptional repression by 1,25-dihydroxyvitamin D3 in breast cancer cells
Authors: McGaffin Kenneth R , Chrysogelos Susan A
Published: August 2005

Reduction of epidermal growth factor receptor (EGFR) mRNA and protein by 1,25-dihydroxyvitamin D3 has been documented in MCF7, T47D, and BT549 breast cancer cells. In the present report, functional mapping of the EGFR promoter in BT549 cells has revealed a sequence of DNA between nucleotide positions −536 and −478 that resembles a consensus vitamin D response element (VDRE) and confers a vitamin D response upon both the homologous and a minimal heterologous promoter. In vitro footprinting and gel shift assays demonstrate the presence of an unidentified nuclear factor that is required for strong binding of the vitamin D receptor (VDR) to this putative VDRE. An Sp1 binding site was also identified in close proximity and shown to bind Sp1 from nuclear extract. Mutational analysis and functional studies using a minimal heterologous promoter provide evidence that the VDR in concert with an unknown nuclear partner mediates basal EGFR repression through displacement of Sp1 which is augmented in the presence of a ligand.
Differential regulation of agouti-related protein and neuropeptide Y in hypothalamic neurons following a stressful event
Authors: Kas Martien J H , Bruijnzeel Adrie W , Haanstra Jurgen R , Wiegant Victor M , Adan Roger A H
Published: August 2005

Stress affects eating behaviour in rodents and humans, suggesting that the regulation of energy balance and the stress response are coupled physiological processes. Neuropeptide Y (NPY) and agouti-related protein (AgRP) are potent food-stimulating neuropeptides that are highly co-localised in arcuate nucleus neurons of the hypothalamus. Recent studies have shown that NPY and AgRP mRNA levels in these neurons respond similarly to fasting and leptin, indicating functional redundancy of the neuropeptide systems in these orexigenic neurons. However, we have found that NPY and AgRP mRNA expression in arcuate nucleus neurons are dissociated immediately following a stressful event. Two hours following a brief session of inescapable foot shocks, AgRP mRNA levels are down-regulated (P < 0.0001). In contrast, NPY mRNA levels are up-regulated (P < 0.0001). To provide physiological relevance for this acute down-regulation of AgRP, an inverse agonist of melanocortin receptors, we have shown that acute intracerebroventricular injection of a melanocortin receptor agonist, α-melanocyte-stimulating hormone (α-MSH), caused a significantly stronger activation of the hypothalamus–pituitary–adrenal-cortical (HPA) axis following a stressful event than in controls. Thus, AgRP and NPY mRNA levels in similar arcuate nucleus neurons are differentially regulated following a stressful event. This may contribute to increased sensitivity for α-MSH to activate the HPA axis following a repeated stressful experience.
Integration of data uncertainty in linear regression and process optimization
Authors: Reis Marco S. , Saraiva Pedro M.
Published: August 2005

Data uncertainties provide important information that should be taken into account along with the actual data. In fact, with the development of measurement instrumentation methods and metrology, one is very often able to rigorously specify the uncertainty associated with each measured value. The use of this piece of information, together with raw measurements, should—in principle—lead to more sound ways of performing data analysis, empirical modeling, and subsequent decision making. In this paper, we address the issues of using data uncertainty in the task of model estimation and, when it is already available, we show how the integration of measurement and actuation uncertainty can be achieved in the context of process optimization. Within the scope of the first task (model estimation), we make reference to several methods designed to take into account data uncertainties in linear multivariate regression (multivariate least squares, maximum likelihood principal component regression), and others whose potential to deal with noisy data is well known (partial least squares, principal component regression, and ridge regression), as well as modifications of previous methods that we developed, and compare their performance. MLPCR2 tends to achieve better predictive performance than all the other tested methods. The potential benefits of including measurement and actuation uncertainties in process optimization are also illustrated. © 2005 American Institute of Chemical Engineers AIChE J, 2005
Study on shrinkage characteristics of heated falling liquid films
Authors: Zhang Feng , Zhang Zhibing , Geng Jiao
Published: August 2005

A liquid film flowing down along a heated solid surface may be substantially influenced by the Marangoni effect, which arises from the existence of a surface tension gradient that is induced by the variations of surface temperature in the transverse direction of the film, causing appreciable contraction of the film. In this work, the governing equations for laminar falling liquid films over a heated plate with constant surface temperature were solved and the surface temperature profile of the film was obtained. By considering the surface tension gradient and shrinkage characteristics in the brim of the heated film, a shrinkage model that gives the film interfacial area was derived based on the experimental infrared images. A comparison of the model with experimental data shows that the model can satisfactorily describe the flow characteristics of falling heated films. The model is expected to be useful for the design and operation of falling film equipments. © 2005 American Institute of Chemical Engineers AIChE J, 2005
Noninactivation of a portion of Xq28 in a balanced X‐autosome translocation
Authors: Du Sart Desirée , Kalitsis Paul , Schmidt Malgorzata
Published: August 2005

We present a balanced translocation (X;9) (q28;q21) in which the normal X chromosome is preferentially active. The derivative X chromosome is inactive in 93% of fibroblasts, but the X portion translocated onto chromosome 9 is not inactivated, as apparent from DNA methylation and chromosome replication patterns. Consequently, the patient is functionally disomic for the part of Xq28 distal to the locus LICAM.
Study of color vision in fragile X syndrome
Authors: Finucane Brenda M. , Jaeger Edward , Dunn Eric , Scott Charles I.
Published: August 2005

Various theories have been postulated to account for the unusual inheritance pattern observed in the fragile X syndrome. The recent finding of a secondary amplification of the fragile X mutation in the offspring of carrier females [Oberle et al., 1991; Yu et al., 1991] is consistent with a maternal imprinting process. Laird [1987] has proposed that the fragile X mutation blocks complete reactivation of a previously inactivated fragile X chromosome. We have tested whether or not such a localized block extends as far distal as the red/green color‐vision complex at Xq28. We found no evidence of color‐vision defects among 25 male subjects with the fragile X syndrome. A fragile X positive woman also had normal color vision, despite being an obligate carrier of her father's gene for red/green color blindness. We conclude that the fragile X gene does not affect the function of neighboring colorvision genes, nor does it affect their ability to compensate adequately for inherited color deficiency on the homologous X chromosome in females.
Prevalence of nonclassical congenital adrenal hyperplasia among women self‐referred for electrolytic treatment of hirsutism
Authors: Killeen Anthony A. , Hanson Naomi Q. , Eklund Rachel , Cairl Christina J. , Eckfeldt John H.
Published: August 2005

Nonclassical congenital adrenal hyperplasia (NCCAH) is well recognized among women who seek medical attention for hirsutism. However, the prevalence of this disorder among women self‐referred for electrolytic treatment of hirsutism is unknown. We hypothesized that the prevalence of NCCAH among women attending an electrolysis clinic might be high. By measuring the morning salivary 17‐hydroxyprogesterone (17‐OHP) as a screening test for NCCAH in 46 women in the follicular phase of their menstrual cycle, we identified 12 subjects with a high basal salivary 17‐OHP. Eleven agreed to have a 60‐minute Cosyntropin‐stimulation test, as did an additional 6 of 9 women with normal basal salivary 17‐OHP, but with a particularly high hirsutism score. One of the women with high basal salivary 17‐OHP had a 60‐minute Cosyntropin response, which was diagnostic of NCCAH. She was of the Ashkenazi Jewish decent, a group previously reported to have a high prevalence of NCCAH. A second woman with high salivary 17‐OHP had a Cosyntropin‐stimulation response consistent with heterozygosity for 21‐hydroxylase deficiency. None of the Cosyntropin‐stimulation responses in those chosen for a high hirsutism score were diagnostic. Thus, 1 of 46 (2.2%) of the women who entered our study had unrecognized NCCAH, a prevalence only about 2‐fold greater than that reported in the general population. Therefore, we recommend that electrolysis clinics advise clients from ethnic groups known to have a high frequency of NCCAH of the advisability of having a formal medical evaluation for NCCAH.
Survival of children with Down syndrome in Italy
Authors: Mastroiacovo Pierpaolo , Bertollini Roberto , Corchia Carlo
Published: August 2005

A cohort of 917 Down syndrome (DS) children born in Italy between 1978 and 1984 was studied for survival through the age of 8 years. The highest mortality occurred in the first month of life (7.9%); survival was about 80% at 1 year, 78% at 2 years, and 76% at 5 years, with small decreases thereafter. At the univariate analysis, survival was lower for subjects with congenital heart disease (CHD), birth weight <2,500 g, parity of 3 or plus, maternal age ≥35 years, and for those born in Southern Italy compared with Northern Italy. No differences in survival were observed by sex and by socioeconomic status. The Cox proportional hazard model was used to evaluate the effect of each variable adjusted for all the others present in the model. Presence of CHD (odds ratio = 3.27; 95% confidence interval (C.I.) 2.31–4.63), birth in the South (odds ratio = 2.69; 95% C.I. 1.91–3.79), and low birth weight (odds ratio = 1.87; 95% C.I. 1.29–2.72) were independently associated with survival. None of the other variables emerged as a statistically significant prognostic factor. Various hypotheses were considered to interpret the unexpected effect of place of birth on survival. Quality of medical care provided in the South of Italy is the most likely determinant of the high mortality observed among children with DS born in that area of Italy. Such differences in survival within the same country could occur in other developed nations as well.
Embryonic testicular regression sequence: A part of the clinical spectrum of 46, XY gonadal dysgenesis
Authors: Marcantonio Sandra M. , Fechner Patricia Y. , Migeon Claude J. , Perlman Elizabeth J. , Berkovitz Gary D.
Published: August 2005

We report on a group of 9 subjects who had a 46, XY karyotype, ambiguous genitalia, abnormalities of sexual duct formation, and lack of gonadal tissue on one or both sides. This is sometimes referred to as “embryonic testicular regression.” Previous investigators have suggested that this condition results from loss of testes at a critical stage in development. We examined the possibility that the “embryonic testicular regression” is part of the clinical spectrum of 46, XY gonadal dysgenesis.

Four subjects totally lacked gonadal tissue, three of them having ambiguous genitalia, and one a micropenis. The development of incongruous sexual ducts (presence of Müllerian ducts in the subject with micropenis, and absence of Müllerian and Wolffian ducts in two subjects with ambiguous genitalia) suggests that the embryonic gonads were intrinsically functionally abnormal before their disappearance.

Five subjects had unilateral gonadal tissue, ambiguous genitalia, and a mix of Wolffian and Müllerian structures. The development of incongruous sexual ducts in 3 of them, the presence of ambiguous external genitalia in 5, and the presence of abnormal gonadal histology in 2 patients all indicate an underlying abnormality of gonadal differentiation in these subjects.

The occurrence of testicular regression in several subjects in the family of one patient suggests a genetic basis for the condition. The presence of multiple congenital anomalies in other subjects in our study suggests either a mutation in a single gene that functions in several developmental pathways, or a defect of multiple genes that might be the result of a chromosome deletion. The sex‐determining region Y (SRY) gene was sequenced in five subjects and was normal in all of them, suggesting that the underlying genetic abnormality in these subjects is located in one of several genes that function subsequent to SRY in the early stages of testis differentiation. © 1994 Wiley‐Liss, Inc.
Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL
Authors: Schüler Lavínia , Salzano Francisco M.
Published: August 2005

Starting from a data base of over one million births investigated in 11 countries as a part of the Latin American Study of Congenital Malformations, 1,428 babies with three or more malformations without known pathogenesis or cause were studied. The objective was to search for statistically significant associations between defects and the delineation of new syndromes. One hundred and twentyone patients presented an association between malformations of the digestive and urogenital systems involving mainly anal, renal, and genital anomalies, while 21 of them had 3 or more VACTERL defects. The frequencies of these defects were intermediate between those observed for VACTERL or sirenomelia, supporting the idea that these conditions have a similar pathogenesis. Statistical approaches like this one may be helpful in identifying processes and biological entities that may be missed using simple clinical observations. © 1994 Wiley‐Liss, Inc.
Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome
Authors: Urioste Miguel , Visedo Guillermo , Sanchís Amparo , Sentís Carlos , Villa Amelia , Ludeña Paloma , Hortigüela José L. , Martínez‐Frías María Lusia , Fernández‐Piqueras José
Published: August 2005

We have studied a girl, her sister and her mother who had a supernumerary marker chromosome in mosaicism. The marker was studied by cytogenetic methods and nonisotopic in situ hybridization with the single D22S9 DNA probe which maps to 22q11. The supernumerary chromosome was derived from a chromosome 22 and it did not present the same morphology in all the cells. At least 5 distinct types of the marker chromosome were detected and some of them were probably derived from each other (dynamic mosaicism).

The proposita had an MCA pattern consistent with mild cat eye syndrome, while her sister and her mother had some of the manifestations described in this syndrome. A specific corelation could be established between phenotype and karyotype. © 1994 Wiley‐Liss, Inc.
Choanal atresia in a patient with the deletion (9p) syndrome
Authors: Shashi Vandana , Golden Wendy L. , Fryburg Julie S.
Published: August 2005

We report on a child with chonal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with del(9p). Choanal atresia may be part of the spectrum of malformations in the deletion (9p) syndrome and its presence should prompt a search for this particular deletion as part of the differential diagnosis. © 1994 Wiley‐Liss, Inc.
Short rib‐polydactyly syndrome and pericentric inversion of chromosome 4
Authors: Urioste Miguel , Martínez‐Frías María Luisa , Bermejo Eva , Jiménez Nicolás , Romero Dolores , Nieto Carmen , Villa Amelia
Published: August 2005

We report on a newborn infant with clinical and radiological manifestations of some type of short rib‐polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib‐polydactyly syndromes, or else be related to the mechanism of short rib‐polydactyly syndromes. © 1994 Wiley‐Liss, Inc.
Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: A new syndrome?
Authors: Feigenbaum Annette , Bergeron Catherine , Richardson Robert , Wherrett John , Robinson Brian , Weksberg Rosanna
Published: August 2005

We describe two brothers with sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive deterioration in renal function, resulting in death in the third decade of life. Autopsy showed diffuse atherosclerosis and arteriolosclerosis of the systemic vasculature. There was no evidence of these abnormalities in the patients' 2 sisters or either parent. Mitochondrial enzyme analysis documented partial deficiencies of Complex III and IV of the respiratory chain. This deficiency was expressed in skin fibroblasts, kidney and liver but not in muscle. This suggests that the disease‐causing mutation is either in the mitochondrial or nuclear DNA. Various modes of inheritance are considered, including maternal, autosomal recessive, or X‐linked recessive. We suggest this is a new genetic syndrome characterized by an underlying metabolic disease and premature atherosclerosis, possibly of mitochondrial origin. © 1994 Wiley‐Liss, Inc.
Familial visceral neuropathy: A defined entity?
Authors: Roper E.C. , Gibson A. , McAlindon M.E. , Williams L.H.P. , Cook J.A. , Kandler R.H. , Quarrell O.W.J.
Published: August 2005

Familial visceral neuropathy (FVN) is a heterogeneous group of disorders due to abnormalities of the myenteric plexus. FVN with neuronal intranuclear inclusions is one particular form of FVN with a variable phenotype that includes achalasia, gastro‐esophageal reflux, intestinal dysmotility and pseudo‐obstruction, dysarthria, peripheral neuropathy and pupillary defects, and the presence of intranuclear inclusions within the neurons of the enteric nervous system. We present a four‐generation family in which 10 individuals (7 of whom have been examined) are affected with FVN. The family was previously reported as familial esophageal achalasia, an autosomal recessive condition (MIM200400). At that time, several individuals in a single sibship were affected and there were no manifestations in either parent. Since that report, two individuals have had affected children and the mother has developed symptoms and has abnormalities on electromyography, thus enabling us to reclassify the family. This family provides further evidence of autosomal dominant inheritance, with marked variation in expression. © 2005 Wiley‐Liss, Inc.
High prevalence of the W24X mutation in the gene encoding connexin‐26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non‐syndromic hearing loss
Authors: Álvarez Araceli , del Castillo Ignacio , Villamar Manuela , Aguirre Luis A. , González‐Neira Anna , López‐Nevot Alicia , Moreno‐Pelayo Miguel A. , Moreno Felipe
Published: August 2005

Molecular testing for mutations in the gene encoding connexin‐26 (GJB2) at the DFNB1 locus has become the standard of care for genetic diagnosis and counseling of autosomal recessive non‐syndromic hearing impairment (ARNSHI). The spectrum of mutations in GJB2 varies considerably among the populations, different alleles predominating in different ethnic groups. A cohort of 34 families of Spanish Romani (gypsies) with ARNSHI was screened for mutations in GJB2. We found that DFNB1 deafness accounts for 50% of all ARNSHI in Spanish gypsies. The predominating allele is W24X (79% of the DFNB1 alleles), and 35delG is the second most common allele (17%). An allele‐specific PCR test was developed for the detection of the W24X mutation. By using this test, carrier frequencies were determined in two sample groups of gypsies from different Spanish regions (Andalusia and Catalonia), being 4% and 0%, respectively. Haplotype analysis for microsatellite markers closely flanking the GJB2 gene revealed five different haplotypes associated with the W24X mutation, all sharing the same allele from marker D13S141, suggesting that a founder effect for this mutation is responsible for its high prevalence among Spanish gypsies. © 2005 Wiley‐Liss, Inc.
Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence
Authors: Robin Nathaniel H. , Franklin Judith , Prucka Sandra , Ryan Ashley B. , Grant John H.
Published: August 2005

Amniotic band sequence (ABS) is a well‐described condition involving a variety of congenital anomalies in association with fibrous bands. However, many cases are associated with birth defects that are not readily explained by the mechanism of fibrous strings entangling body parts and causing disruption of the fetal structures. The most common of these is typical cleft lip and palate (CLP). Here we describe such a case, with typical ABS limb defects and constriction bands, along with CLP, supernumerary left nipple, polydactyly, and a skin papilla. This case is nearly identical to a child previously described by Guion‐Almieda and Richieri‐Costa [2000] and may, therefore, represent a previously unrecognized syndrome that overlaps with ABS. Furthermore it may be that cases with ABS‐like anomalies associated with CLP represent a different condition, possibly caused by mutations in the genes Disorganization, p63, or IRF6. © 2005 Wiley‐Liss, Inc.
Nerve endings of the lemur (Lemur fulvus rufus)
Authors: Zollman Paul E. , Winkelmann R. K.
Published: August 2005

Nerve structures in lemur skin (Lemur fulvus rufus) studied with silver impregnation and histochemical methods presented certain unique features. The primary nerve structure of the skin was found to be the hair nerve end‐organ. In this animal it contained no cholinesterase. The specialized nerve endings of the glabrous skin were Meissner‐form corpuscles similar to those of other primates and contained nonspecific cholinesterase. Vater‐Pacini corpuscles were observed in deeper tissue. The mammalian end‐organ was observed in the nose, palate and lip and it was readily demonstrated by silver impregnation and cholinesterase methods. The nasal end‐organ of intraepithelial neurofibrils is described. The lemur is the only primate that has the mammalian end‐organ as a major form of sensory receptor.
Distribution of hereditary blood antigens among Indians in Middle America. VII. In Costa Rica
Authors: Albin Matson G. , Swanson Jane
Published: August 2005

A total of 208 blood samples were procured from Indians in Costa Rica. Cells from clotted specimens were tested for the blood group antigens A, B, M, N, S, s, Mia, Vw, C, Cw, D, E, c, e, V (ces), Lua, Lub, K, k, Lea, Leb, Fya, Jka, Dia, Wra, Jsa, and Bea. Phenotypes and corresponding gene frequencies define by these antigens are presented for the Boruca, Bribri, Cabecar, and Terraba tribes.

The Costa Rican Indians, excepting the Boruca, are 100% Group O. The presence of one Group A and two Group B persons among 56 Boruca is suggestive of racial admixture among them.

The frequency for the M gene is especially high in the Cabecar which population also shows a complete absence of homozygous NN.

The incidence of P1 antigen is unusually high in the Boruca, Cabecar and Terraba (81.07%, 98.39%, and 95.00%, respectively), but in the Bribri the incidence is only moderately high (84.00%).

Typical of other Indian populations in Middle America, the Costa Rican tribes show high frequencies for cDE (R2) chromosom; whereas cDe (R0) and/or cde (r) chromosome frequencies are low or absent. No Diego (Dia) antigen was present in the blood samples from the Bribri, Cabecar and Terraba, but it was found in eight of 56 samples from the Boruca.

The Mia, Vw, K, Lua, Lea, Wra, and Bea antigens were all absent as were the predominantly negro antigens Jsa and V in the Costa Rican Indian blood samples.
A comparison of Sheldon's and Parnell's methods for quantifying morphological differences
Authors: Haronian Frank , Arthur Sugerman A.
Published: August 2005

Comparison of Sheldon's somatotype and Parnell's phenotype scores on 102 normal male university students showed significant differences between all three matched pairs of components. Shared variances were 35% for endomorphy and Fat, 44% for mesomorphy and Muscularity, and 74% for ectomorphy and Linearity. Parnell's Muscularity scores averaged nearly one point less than Sheldon's mesomorphy scores. Although both systems exhibit redundancy, neither seems reduceable to two scores. Because both systems show twice as many correlations with a variety of psychological measures as would be expected by chance, it would be useful to include either or both systems routinely in psychological studies.
The distribution and disposition of anomalous notches in the non‐epiphyseal ends of human metacarpal shafts
Authors: Dreizen Samuel , Spirakis Charles N. , Stone Robert E.
Published: August 2005

The incidence, duration and location of notches in the non‐epiphyseal ends of the metacarpal shafts were determined from serial sequential radiographs of the left hand of 332 ethnically comparable children. Each series of films extended from shortly after birth to late adolescence or early adulthood. The notches represent vestiges of supernumerary epiphyses or pseudo‐epiphyses and are regarded as indicative of disturbances in skeletal maturation.

Metacarpal notching was found in 132 (78.1% ) of 169 boys and in 118 (72.4% ) of 163 girls. The mean number of notches per subject was significantly higher in boys than in girls and in slow maturing as opposed to fast maturing children in each sex. Regardless of sex or speed of skeletal maturation, the most frequent locations of notching were radial border of metacarpal II, ulnar side of metacarpal V and radial margin of metacarpal I. Notches were most common in metacarpal II followed in declining order by metacarpals V, I, III and IV. The notches disappeared approximately two years earlier in girls than in boys. All were obliterated by deposition of osseous tissue long before fusion of the true epiphysis with the metacarpal shaft.
Neonatal mortality and altitude in Peru
Authors: Mazess Richard B.
Published: August 2005

Analysis of Peruvian census materials shows an increase of neonatal mortality with altitude. This increase is analagous to, but greater than, that known to obtain in the United States population. Neonatal mortality in the highlands of Peru averages from 50 to 60 deaths per 1,000 live births, about double that of the lowlands. The association of neonatal mortality with elevation appears partially diminished when other areal differences are considered.
The methodology of gait analysis and gaits of monkeys
Authors: Prost J. H.
Published: August 2005

Motion pictures were taken of two subadult monkeys (Macaca and Lagothrix) running and walking on level ground. The film strips were analyzed to determine the timing of the limb contacts with the surface. Generalizations and associations from the film analysis were used to construct a model system which categorizes gait types for quadrupedal running and walking.

Some of the major conclusions derived from the analysis of the film segments were: 1. Simultaneous contacts or withdrawals were artifacts of recording precision. 2. The most frequent footfall order types were: right hind (Rh), left front (Lf), left hind (Lh), right front (Rf); RhRfLhLf; RhLhRfLf. 3. The most frequent support combinations, and those having the longest relative durations, were: RhLf and LhRf. 4. The number of frames for a single contact varied directly as the number of frames during which the body (head‐rump length) simultaneously passed over a stationary ground point. The number of frames for non‐contacts had a relative function which is similar to that of a constant.
Physical anthropology of the Canary Islands: Old and new views
Authors: Fuste Miguel
Published: August 2005

The study of the Canary Islanders illustrates the shift in view point among human biologists during the past century from an interest in typology to the present interest in population genetics. Earlier notions, derived from morphological observations, that a Negroid element existed in the population, are disproved by analysis of palmar dermatoglyphics and haptoglobin types. Neither of these genetically controlled characteristics reveals any Negroid affinities. It is furthermore clear that isolation and local environmental differences have led to some degree of morphological and even genetic variation within the living Canarian population.
Haptoglobins and transferrins in Melanesia: Relation to hemoglobin, serum haptoglobin and serum iron levels in population groups in Papua—New Guinea
Authors: Curtain C. C. , Gajdusek D. C. , Kidson C. , Gorman J. G. , Champness L. , Rodrigue R.
Published: August 2005

This paper reports haptoglobin and transferrin typping of 2687 serum specimens from Melanesians of New Guinea and New Britain. The specimens were obtained from members of 27 different cultural and linguistic groups residing in over 100 different villages in six different administrative districts. They were divided among the Districts as follows: New Britain 821, Sepik 623, Morobe 349, Eastern Highlands 613, Southern Highlands 222, and Western Highlands 59.

In addition serum haptoglobin levels, serum iron levels and total serum iron binding capacity have been determined on these subjects. In the field hemoglobin determinations, blood smears for examination for malaria parasite rates, and spleen palpations were done on a proportion of the subjects, mostly children under ten years whose sera have been examined in this study. These field and laboratory results are correlated with the transferrin and haptoglobin gene frequency findings.
Sensitivity to P‐T‐C among primates
Authors: Eaton John W. , Gavan James A.
Published: August 2005

The taste threshold of 228 subjects from 17 species of non‐human primates was determined with graded solutions of P‐T‐C. Among species for which the sample size was sufficiently large, only the chimpanzee definitely showed a bimodal distribution. Experiments with tyrosine and cabbage indicate that the concentration of the former, in saliva, influences the individual's threshold and that the amount of cabbage, or other goitrogens, in the diet probably also has an influence. These results, in addition to information in the literature, indicate that sensitivity to P‐T‐C is not selectively neutral and, in man, may be another example of balance polymorphism.
The blood factors I and i in primates including man, and in lower species
Authors: Wiener Alexander S. , Moor‐Jankowski J. , Gordon Eve B. , Davis J.
Published: August 2005

Human‐type blood factors I and i have been investigated in several primate species including man, and in other mammals. The anti‐I tests were performed with the original antiserum which led to the discovery of blood factor I. The anti‐i serum used was obtained from a patient with severe idiopathic hemolytic anemia. Both antisera were similar in serological reactivity, except for their difference of specificity. Human adults, in general, have blood factor I but lack factor i; those very rare adults of type i who lack factor I have the factor i instead. In newborn human infants the factor I is still undeveloped and blood factor i is present in its place.

In all other species only juvenile and adult animals have so far been tested. Chimpanzees lack blood factor I but have the factor i, which could be interpreted as phylogeny paralleling ontogeny; however, gibbons lack both factors I and i while orangutan has an intermediate position. All Catarrhini tested, namely, yellow baboons, geladas, patas, mangabeys, macaques, African green, talapoin and Sykes monkeys lack blood factor I but have the factor i. Among Platyrrhini the results are less uniform: Capuchins have very strong blood factor I and a weak factor i, while squirrel and spider monkeys have factor i and little or no factor I. On the other hand, marmosets have both factors I and i well developed. Only two single prosimians were tested: slow loris had factor i but no factor I, while potto lacked both factors I and i.

Among non‐primate animals, sheep, goat, deer, cat and South American agoutilack both factors I and i; dog and rat lack factor I but have a weak factor i, while rabbit has a very strong factor I but lacks the factor i.

Bearing in mind the relatively small number of animals tested within each species, the present study indicates a heterophile behavior of the blood factors I and i in mammals, in that their distribution cuts across taxonomic lines.
Stature increase among Italian‐Americans: Environmental, genetic, or both?
Authors: Damon Albert
Published: August 2005

Among 199 Italian‐American men, aged 20–59, over 90% American born of Neapolitan parentage, and working in a single factory near Boston, stature increased progressively from the sixth to the third decade. The difference, 2.1 inches (p < 0.001), is the largest yet reported for adults over so short a period. Most of the increase is environmentally mediated, but the possibility of heterosis is suggested by the greater stature of sons of exogamous matings than of endogamous matings (difference = 0.73 inches, 0.06 > p > 0.05), independently of age.
Variation studies on plantar intertriradial measurements: The a‐b measurement in Panjabi Brahmans
Authors: Datta P. K.
Published: August 2005

Variability in the plantar intertriradial measurement a‐b has been studied in 200 Panjabi Brahmans from India with a view to determining statistically the bilateral and sex differences. The mean measurements in the right and left sides of males are 16.53 ± 0.24 mm and 17.42 ± 0.19 mm, respectively. In females, the corresponding distances are 14.95 ± 0.19 mm and 15.52 ± 0.19 mm. The test of significance reveals statistically significant bilateral as well as male/female differences.