bluuebunny/crossref_metadata_2025 huggingface dataset:
Aspergillus fumigatus regulates mite allergen‐pulsed dendritic cells in the development of asthma
Authors: Fukahori S. , Matsuse H. , Tsuchida T. , Kawano T. , Tomari S. , Fukushima C. , Kohno S.
Published: July 2010

Background
The role in allergic asthma development of the immune response against fungi with concomitant exposure to other common aeroallergens has yet to be determined. In particular, there is little understanding of how inhaled fungi affect the host response to mite allergens.

Objective
To characterize the in vitro and in vivo effects of concurrent exposure of Aspergillus fumigatus (Af) and Dermatophagoides farinae (Derf) on dendritic cells (DCs) in the development of allergic asthma.

Methods
Murine bone marrow‐derived DCs were pulsed with Derf and/or live or heat‐inactivated Af. Cytokine production and the expression of pathogen recognition receptors (PRRs) were determined in vitro. Subsequently, these DCs were inoculated into the airway of naïve mice to assess the development of allergic airway inflammation in vivo. The effect of antibodies against PRRs was also evaluated.

Results
Live Af significantly enhanced IL‐10 production and the expression of Toll‐like receptor (TLR) 2 and Dectin‐1 in Derf‐pulsed DCs. Live Af infection significantly attenuated Derf‐pulsed DC‐induced allergic airway inflammation in vivo. Antibodies against either TLR2 or Dectin‐1 significantly reversed the inhibitory effects of live Af in the development of Derf‐pulsed DC‐induced allergic airway inflammation.

Conclusion
Concurrent exposure of DCs to fungal antigens has profound influences on the subsequent mite allergen‐induced allergic airway inflammation. Live Af could regulate the functions of airway DCs in the development of mite allergen‐induced allergic airway inflammation via regulation of their PRRs.

Our results suggest that concurrent exposure to pathogens such as fungi and mite allergens has profound influences on the subsequent allergen‐induced allergic airway inflammation. Furthermore, modulating PRR signalling could provide a therapeutic regimen for the development of asthma.

Cite this as: S. Fukahori, H. Matsuse, T. Tsuchida, T. Kawano, S. Tomari, C. Fukushima and S. Kohno, Clinical & Experimental Allergy, 2010 (40) 1507–1515.
Erythema gyratum repens associated with pityriasis rubra pilaris
Authors: Almaani N. , Robson A. , Sarkany R. , Griffiths W. A. D.
Published: July 2010

Erythema gyratum repens (EGR) is a rare cutaneous eruption characterized by serpiginous morphology and a migrating scaly border. It is one of the most specific cutaneous paraneoplastic phenomena, and is associated with malignancy in most cases. We report a 46-year-old Afro-Caribbean man with the unequivocal clinical and histological features of pityriasis rubra pilaris (PRP). However, despite improvement on oral acitretin, the morphology of the eruption evolved into the striking serpiginous rash of EGR. The histology findings, although nonspecific, were in keeping with the diagnosis of EGR. No evidence of malignancy was found. Only four cases of PRP evolving into EGR have been reported in the literature, and none was associated with malignancy. All previously reported cases of EGR have been described in white patients, making our case the first reported exception, to our knowledge. The possible role of retinoids in altering the rash of PRP to that of EGR is discussed.
Honeybee venom secretory phospholipase A2 induces leukotriene production but not histamine release from human basophils
Authors: Mustafa F B , Ng F S P , Nguyen T H , Lim L H K
Published: July 2010

The role of basophils in an anaphylactic response is well recognized but is usually masked by mast cells, which contain similar mediators for the induction of generalized vasodilatation and laryngeal constriction. The rapid onset of systemic anaphylactic symptoms, particularly in insect stings and ingested food, suggest that basophils, a circulating pool of cells containing histamine and other potent mediators such as leukotrienes, may be more involved in systemic anaphylaxis than originally thought. We wished to examine if secretory phospholipase A2, a systemic allergen found in honey bee venom (HBV-sPLA2) may activate basophils directly leading to rapid systemic mediator release. Basophils were isolated from human blood and stimulated with increasing concentrations of HBV-sPLA2. We found that physiological concentrations of HBV-sPLA2 induce rapid leukotriene C4 production from purified human basophils within 5 min, while interleukin (IL)-4 expression and production was induced at later time-points. Histamine release was not induced, signifying that HBV-sPLA2 did not induce generalized degranulation. Surface expression of CD63, CD69 and CD11b were up-regulated following HBV-sPLA2 treatment. Stimulation of basophils with anti-immunoglobulin E (IgE) following treatment with HBV-sPLA2 did not induce more leukotriene release. To investigate the mechanism of leukotriene production, 9–12 octadecadiynioc acid, a cyclooxygenase-1 (COX-1) and 15-lipoxygenase inhibitor, was used and this abrogated leukotriene production. These results indicate that HBV-sPLA2 can directly activate human basophils in vitro to induce leukotriene production.
Original article: Incorporations of blueberry extracts into soybean‐protein‐isolate film preserve qualities of packaged lard
Authors: Zhang Chao , Guo Kuan , Ma Yue , Ma Dan , Li Xihong , Zhao Xiaoyan
Published: July 2010

The effect of blueberry‐extract incorporation into soybean‐protein‐isolate edible film on the quality of packaged lard was compared with vitamin E or butylated hydroxyl anisole (BHA) incorporations individually during the storage at 36 °C and relative humidity of 40% for 5 weeks. Blueberry‐extract incorporations into soybean‐protein‐isolate film showed a greater tensile strength, lower water vapour permeability and lower oxygen permeability than vitamin E or BHA incorporations individually. On the other hand, the antioxidant capacity of soybean‐protein‐isolate film incorporated with the blueberry extract was greater than that incorporated with vitamin E and similar to that incorporated with BHA. Moreover, soybean‐protein‐isolate film incorporated with the blueberry extract showed a greater capacity to delay the lard hydrolysis than that incorporated with BHA, and a similar capacity to that incorporated with vitamin E. Consequently, blueberry‐extract incorporations into soybean‐protein‐isolate film not only improved mechanical and barrier properties, but also delayed the oxidation and hydrolysis of packaged lard. Therefore, blueberry‐extract incorporations into soybean‐protein‐isolate films have potential as a packaging material which will preserve the qualities of stored lard.
Danish dentists’ and dental hygienists’ knowledge of and experience with suspicion of child abuse or neglect
Authors: ULDUM BIRGITTE , CHRISTENSEN HANNE NØDGAARD , WELBURY RICHARD , POULSEN SVEN
Published: July 2010

International Journal of Paediatric Dentistry 2010; 20: 361–365

Background.  Studies from several countries have shown that knowledge of child protection matters among the dental team is inadequate. No such data are available from Denmark.

Aim.  To describe dental teams perception of their role in child protection matters.

Design.  A previously used questionnaire regarding the role of the dental team in child protection was adopted to Danish terminology, and mailed to a sample of Danish dentists and dental hygienists.

Results.  A total of 1145 (76.3%) returned a questionnaire with valid data; 38.3% reported to have had suspicion of child abuse or neglect. Of those who reported a suspicion, 33.9% had reported their suspicion to social services. This was more frequent for dentists than for dental hygienists, and more frequent for respondents working in the municipal dental service than in private practice. Most frequently reported barriers towards referring suspicion to social services were uncertainty about observations, fear of violence in the family towards the child, and lack of knowledge regarding referral procedures. The majority of the respondents expressed a need for further education.

Conclusions.  Members of the dental team in Denmark do not seem to fill their role sufficiently in child protection matters, and perceive a need for undergraduate and continuing postgraduate training.
Habitat fragmentation affects culture transmission: patterns of song matching in Dupont's lark
Authors: LAIOLO PAOLA , TELLA JOSÉ L.
Published: July 2010

Males of many bird species match song with neighbours during territorial interactions. Although bird vocal mimicry has received much attention, the relationships between song variation and ecological factors such as landscape geometry and habitat fragmentation are still poorly known, and most previous research has been limited to one or a few populations of a species. In this study we analysed the spatial patterns and ecological determinants of song matching in Dupont's lark Chersophilus duponti, a rare and specialized steppe passerine.

By recording bird songs from 21 Spanish and Moroccan localities, we analysed the effect of habitat fragmentation and the availability of suitable steppe habitat on the patterns of song matching in Dupont's lark, controlling for other potential determinants such as period in the breeding season, intensity of competition, geographical location and spatial distribution of individuals.

Both song‐type sharing (match of song types in the repertoire) and spectrotemporal matching (convergence in the acoustic features of the same song type) were greater between counter‐singing neighbours than between non‐neighbours, and spatial autocorrelation (similarities between singing individuals) only occurred at short distances. The study localities differed in the amount of overall acoustic matching between individuals, seemingly as a consequence of local differences in the intensity of male competition and in the availability of suitable habitat.

The levels of song‐type sharing between non‐neighbours tended to increase and those among neighbours to decrease with the increase of steppeland availability. Moreover, the existing differences in sharing between neighbours and non‐neighbours were significantly affected by the presence of elements of fragmentation in the steppe. In fragmented habitats, song sharing among neighbours was enhanced, possibly because of harsher competition for limited resources; conversely, sharing among non‐neighbours dropped, probably because of the lack of interactions among individuals isolated by habitat barriers.

Synthesis and applications. Anthropogenic habitat barriers could alter bird perception of the spatial distribution of rivals over distance, leading to a contraction of the spatial range of the individual acoustic niche. We suggest that communication systems of habitat‐sensitive species might be used as a behavioural indicator of anthropogenic environmental deterioration. Because of their rapidly evolving cultural nature, bird vocalizations might become an early warning system detecting the effects of fragmentation over relatively short times and before other indicators (such as genetic markers) show any change.
Predicting tropical forest stand structure parameters from Fourier transform of very high‐resolution remotely sensed canopy images
Authors: COUTERON PIERRE , PELISSIER RAPHAEL , NICOLINI ERIC A. , PAGET DOMINIQUE
Published: July 2010

Predicting stand structure parameters for tropical forests from remotely sensed data has numerous important applications, such as estimating above‐ground biomass and carbon stocks and providing spatial information for forest mapping and management planning, as well as detecting potential ecological determinants of plant species distributions. As an alternative to direct measurement of physical attributes of the vegetation and individual tree crown delineation, we present a powerful holistic approach using an index of canopy texture that can be extracted from either digitized air photographs or satellite images by means of two‐dimensional spectral analysis by Fourier transform.

We defined an index of canopy texture from the ordination of the Fourier spectra computed for 3545 1‐ha square images of an undisturbed tropical rain forest in French Guiana. This index expressed a gradient of coarseness vs. fineness resulting from the relative importance of small, medium and large spatial frequencies in the Fourier spectra.

Based on 12 1‐ha control plots, the canopy texture index showed highly significant correlations with tree density (R2 = 0·80), diameter of the tree of mean basal area (R2 = 0·71), distribution of trees into d.b.h. classes (R2 = 0·64) and mean canopy height (R2 = 0·57), which allowed us to produce reasonable predictive maps of stand structure parameters from digital aerial photographs.

Synthesis and applications. Two‐dimensional Fourier analysis is a powerful method for obtaining quantitative characterization of canopy texture, with good predictive ability on stand structure parameters. Forest departments should use routine forest inventory operations to set up and feed regional databases, featuring both tree diameter figures and digital canopy images, with the ultimate aims of calibrating robust regression relationships and deriving predictive maps of stand structure parameters over large areas of tropical forests. Such maps would be particularly useful for forest classification and to guide field assessment of tropical forest resources and biodiversity.
Size‐dependent flowering and costs of reproduction affect population dynamics in a tuberous perennial woodland orchid
Authors: Jacquemyn Hans , Brys Rein , Jongejans Eelke
Published: July 2010

1. In woodland herbs, the probability of flowering and costs associated with reproduction may strongly depend on environmental context (shade vs. light habitats) and on plant size. This may be particularly true for tuberous orchids that inhabit woodlands, as the amount of incoming radiation and total leaf area strongly determine photosynthetic capacity and hence the amount of carbohydrates that can be relocated to below‐ground storage organs that form next year’s rosette and flowering stalk.

2. To fully comprehend the impact of size‐dependent reproduction on population dynamics under varying light conditions, life cycle models should therefore include plant size in a continuous manner. In this study, annual changes in plant size and demographic behaviour of the tuberous perennial orchid Orchis purpurea were monitored during seven consecutive years (2003–2009) in open and shaded woodland. Integral projection models (IPMs) and life table response experiments (LTRE) were used to investigate the extent to which variation in plant size affected the overall population dynamics of this species and to decompose differences in population growth rates between populations of open and shaded woodland into contributions from growth, survival and reproduction.

3. Both plants in shaded and light environments needed to be a certain size to initiate flowering, but this threshold size was almost three times as large in shaded environments as in light environments. Plants in open woodlands flowered more frequently over the years, showed less size regression after flowering and produced significantly more fruits than plants in shaded environments, resulting in significantly larger population growth rates.

4. Our life cycle models revealed that costs of reproduction, measured at the population‐level, were small in the light environment, and more than buffered by the increase in survival of flowering plants compared to non‐flowering plants. In the shade environment, however, the costs of reproduction were significant and made the difference between a stable (current) and a growing (without reproduction costs) population.

5. Synthesis. Light penetration to the soil is a key variable determining population dynamics of woodland orchids. Our analyses show that differences in vital rates related to size‐dependent reproduction (flowering) and growth are essential drivers of changes in orchid population dynamics in different light environments. The combination of IPMs and LTREs thus proves to be very useful when studying the fitness consequences of size‐ and context‐dependent phenomena like flowering strategies and costs of reproduction.
Pan‐European phylogeography of the aquatic snailTheodoxus fluviatilis(Gastropoda: Neritidae)
Authors: BUNJE PAUL M. E.
Published: July 2010

Investigating the geographical distribution of genetic lineages within species is critical to our understanding of how species evolve. As many species inhabit large and complex ranges, it is important that phylogeographical research take into account the entire range of widespread species to clarify how myriad extrinsic variables have affected their evolutionary history. Using phylogenetic, nested clade, and mismatch distribution analyses on a portion of the mitochondrial COI gene, I demonstrate that the wide‐ranging freshwater snailTheodoxus fluviatilispossesses in parallel many of the phylogeographical patterns seen in less widespread freshwater species of Europe. Fragmentary forces play a major part in structuring the range of this species, with 12 of 14 geographically structured nested clades displaying a distribution consistent with fragmentation or restricted dispersal. Certain regions of southern Europe harbour the majority of genetic diversity (total haplotype diversity,H = 0.87), particularly Italy (H = 0.87) and areas surrounding the Black Sea (H = 0.81). Post‐Pleistocene range expansion is pronounced, with the majority of northern European populations (95% of sample sites) having arisen from northern Italian individuals that initially colonized northern Germany. Additionally, two highly divergent haplotype lineages present in northern Germany imply that there were at least two postglacial recolonization routes. Estuaries may also provide a means of dispersal given that no genetic differentiation was found between estuarine populations and neighbouring freshwater populations. Taken together, these data reveal a species with a complex genetic history resulting from the fragmentary effects of European geology as well as continuous and discrete range expansion related to their aquatic biology.
Detection of secondary predation by PCR analyses of the gut contents of invertebrate generalist predators
Authors: SHEPPARD S. K. , BELL J. , SUNDERLAND K. D. , FENLON J. , SKERVIN D. , SYMONDSON W. O. C.
Published: July 2010

Predation by generalist predators is difficult to study in the field because of the complex effects of positive and negative interactions within and between predator species and guilds. Predation can be monitored by molecular means, through identification of prey DNA within predators. However, polymerase chain reaction (PCR) amplification of prey DNA from predators cannot discriminate between primary and secondary predation (hyperpredation), in which one predator feeds on another that has recently eaten the target prey. Here we quantify, for the first time, the potential error caused by detection of prey DNA following secondary predation, using an aphid–spider–carabid model. First, the aphid Sitobion avenae was fed to the spider Tenuiphantes tenuis and the carabid Pterostichus melanarius, and the postconsumption detection periods, for prey DNA within predators, were calculated. Aphids were then fed to spiders and the spiders to carabids. Aphid DNA was detected in the predators using primers that amplified 245‐ and 110‐bp fragments of the mitochondrial cytochrome oxidase I gene. Fragment size and predator sex had no significant effect on detection periods. Secondary predation could be detected for up to 8 h, when carabids fed on spiders immediately after the latter had consumed aphids. Beetles tested positive up to 4 h after eating spiders that had digested their aphid prey for 4 h. Clearly, the extreme sensitivity of PCR makes detection of secondary predation more likely, and the only reliable answer in future may be to use PCR to identify, in parallel, instances of intraguild predation.
Evolution in caves: Darwin’s ‘wrecks of ancient life’ in the molecular era
Authors: JUAN CARLOS , GUZIK MICHELLE T. , JAUME DAMIÀ , COOPER STEVEN J. B.
Published: July 2010

Cave animals have historically attracted the attention of evolutionary biologists because of their bizarre ‘regressive’ characters and convergent evolution. However, understanding of their biogeographic and evolutionary history, including mechanisms of speciation, has remained elusive. In the last decade, molecular data have been obtained for subterranean taxa and their surface relatives, which have allowed some of the classical debates on the evolution of cave fauna to be revisited. Here, we review some of the major studies, focusing on the contribution of phylogeography in the following areas: biogeographic history and the relative roles of dispersal and vicariance, colonization history, cryptic species diversity and modes of speciation of cave animals. We further consider the limitations of current research and prospects for the future. Phylogeographic studies have confirmed that cave species are often cryptic, with highly restricted distributions, but have also shown that their divergence and potential speciation may occur despite the presence of gene flow from surface populations. Significantly, phylogeographic studies have provided evidence for speciation and adaptive evolution within the confines of cave environments, questioning the assumption that cave species evolved directly from surface ancestors. Recent technical developments involving ‘next generation’ DNA sequencing and theoretical developments in coalescent and population modelling are likely to revolutionize the field further, particularly in the study of speciation and the genetic basis of adaptation and convergent evolution within subterranean habitats. In summary, phylogeographic studies have provided an unprecedented insight into the evolution of these unique fauna, and the future of the field should be inspiring and data rich.
Cutaneous melanoma with nodal metastases in elderly people
Authors: Rutkowski Piotr , Nowecki Zbigniew I. , Zdzienicki Marcin , Michej Wanda , Symonides Malgorzata , Rosinska Magdalena , Dziewirski Wirginiusz , Bylina Elzbieta , Ruka Wlodzimierz
Published: July 2010

Background  The impact of age on melanoma patient outcomes is uncertain.

Objective  The aim of the study was to analyze the characteristics and treatment outcomes in cutaneous melanoma patients ≥ 65 years of age with lymph node metastases.

Methods  We analyzed data from 849 consecutive patients with stage III cutaneous melanoma who were treated between 1994 and 2007 at one institution. Of these, 225 (26.5%) were ≥ 65 years of age. The characteristics and disease‐specific survival (DSS) from lymph node dissection (LND) date of patients ≥ 65 years of age were compared with those of younger patients. Median follow‐up time was 49 months (range: 6–140 months).

Results  In the ≥ 65 years group (51.6% men), the median Breslow thickness was 5.0 mm and 70% was ulcerated. The 5‐year DSS rate was significantly lower in older patients (34%). Multivariate analysis identified older age as an independent prognostic factor for DSS in the overall group. Independent negative prognostic factors of DSS in the group of older stage III patients were identified as features of nodal metastases (extracapsular invasion, HR = 1.74, P = 0.009; and ≥ 4 involved lymph nodes, HR = 1.5; P = 0.008) and male sex (HR = 1.5; P = 0.039).

Conclusions  This analysis showed that melanoma patients ≥ 65 years of age are characterized by a higher primary tumor stage and worse prognosis in the presence of regional node metastases than younger patients. Additionally, the results indicate that the same radical surgical therapy is necessary for patients ≥ 65 years old as in younger patients.
Use of dermatoscopy and videodermatoscopy in therapeutic follow‐up: a review
Authors: Lacarrubba Francesco , D’Amico Valentina , Nasca Maria Rita , Dinotta Franco , Micali Giuseppe
Published: July 2010

Dermatoscopy (DE) is a noninvasive technique that allows a rapid and magnified in vivo observation of the skin surface with the visualization of morphologic features invisible to the naked eye. It is performed using manual devices without computer assistance, which generally allows ×10 magnifications. Videodermatoscopy (VD) represents the evolution of DE and is performed using a video camera equipped with optic fibers and lenses that currently allow magnifications ranging from ×10 to ×1000. Both DE and VD have been demonstrated to have further applications in dermatology apart from their use in differential diagnosis of pigmented skin lesions. In several disorders, they may be useful in differential diagnosis, prognostic evaluation, and in evaluating the response to treatment. This article focuses on the use of DE and VD in therapeutic follow‐up. Although VD systems using high magnifications may not be cost‐effective in all cases, VD represents a more reliable noninvasive and easy‐to‐use tool in therapeutic follow‐up both for in‐office dermatology as well as for clinical investigations.
Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome)
Authors: Friedrich U. , Hansen K. Brogård , Hauge M. , Hägerstrand I. , Kristoffersen K. , Ludvigsen E. , Merrild U. , Nørgaard‐Pedersen B. , Petersen G. Bruun , Therkelsen A. J.
Published: July 2010

Two unrelated families are presented with repeated occurrences of a congenital syndrome of which the main stigmata were polycystic kidneys and occipital encephalocele (Meckel syndrome). Prenatal diagnosis, followed by interruption of pregnancy, was performed in one case. The diagnosis was based on an increase of amniotic alpha‐fetoprotein (AFP), and on the mode of growth and cell types of cultured amniotic cells. In another similarly examined case the diagnosis was suspected, but the parents did not wish the pregnancy to be interrupted. The child was stillborn and malformed. AFP values are presented and discussed in relation to the observed malformations. Neural tube defects are associated with an increase of AFP in amniotic fluid, but, as in normal pregnancies, the values decrease with increasing gestational age. On the other hand, kidney malformations seem to be associated with AFP values which remain high or even increase with increasing gestational age.
Gc Serum groups and schizophrenia
Authors: Beckman L. , Beckman G. , Perris C.
Published: July 2010

In an epidemiological study of schizophrenia in a North Swedish isolate, Böök et al. (1978) reported an association betwcen schizophrenia and the genetic marker Gc2. In an attempt to confirm this observation, we examined a series of schizophrenic patients from Väster‐botton County in Northern Sweden. In our material there was no difference between schizophrenic patients and controls with respect to the frequencies of Gc groups or genes. A reanalysis of the material by Böök et al. (1978) showed that schizophrenics compared to controls had a significant increase in the frequency of the Gc 2–1 group, but not of the Gc2 gene. The Gc distribution in the material by Böök et al. (1978) was similar to that previously reported by us in a series of patients with cycloid psychosis.
Baller‐Gerold syndrome Craniosynostosis‐radial aplasia syndrome
Authors: Anyane‐Yeboa K. , Gunning L. , Bloom A. D.
Published: July 2010

A new case of the Baller‐Gerold syndrome is described in a 61/2‐year‐old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito‐urinary malformations. The parents and siblings were unaffected, and there was no history of consanguinity. A review of the history and physical findings in our patient and in the four other patients previously reported in the literature is provided, with a discussion on pathogenesis, prognosis and the possible autosomal recessive mode of inheritance of the syndrome.
Familial angiolipomatosis
Authors: Hapnes Sveln A. , Boman Helge , Seeie Sverre O.
Published: July 2010

Large subcutaneous angiolipomata were observed bilaterally around the wrists, knees, and ankles in an adolescent boy. Growth had been slow since first noted at age 1 year. The tumors extended deeply between muscles, tendons and joint capsules, but without infiltration of these structures. The tumors recurred after subtotal excision. Muscular hypo‐trophy and deformation of bones near the affected joints were noted. An 8–year‐old sister had similar tumors, suggesting a genetic etiology.
Hemorrhagic pancreatitis in a patient with glycogen storage disease type I
Authors: Michels Virginia V. , Beaudet Arthur L.
Published: July 2010

A 17–year‐old female with glycogen storage disease type I (GSD‐I) died suddenly with hemorrhagic pancreatitis. She had a long‐standing history of hyperlipidemia that did not respond to a regimen of frequent daytime and nocturnal intragastric feeding. Although pancreatitis is a well‐known complication of hyperlipidemia, there are no reports to our knowledge of pancreatitis causing sudden death in patients with GSD‐I. Pancreatitis must be added to the growing list of complications that can occur in long‐term survivors with GSD‐I, and should be considered when these patients present with abdominal pain.
Dominant inheritance of femoral hypoplasia‐unusual facies syndrome
Authors: Lampert Richard P.
Published: July 2010

The femoral hypoplasia‐unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and micrognathia. It is felt to be sporadic in nature. An affected father and daughter are described, implying dominant inheritance.
Albinism in Nigeria with delineation of new recessive oculocutaneous type
Authors: King Richard A. , Creel Donnell , Arvenka Jaroslav , Okord Anezi N. , Witkop Carl J.
Published: July 2010

Seventy‐nine Nigerian oculocutaneous albinos were investigated. Fifty‐six had typical tyrosinase‐positive albinism (TPA) and 23 had brown albinism (BA), a new oculocutaneous type. The TPA were characterized by localized but no generalized skin pigment, yellow hair, blue to brown irides, nystagmus, and reduced or absent retinal pigment. Localized skin pigment included freckles and lentigines. The iris and skin pigment were the result of the slow accumulation of pigment with age as both were found in older individuals. The most severe skin changes were premalignant keratoses and squamous cell carcinoma of the skin, and the skin malignancies were the major factor in limiting the lifespan for TPA. The BA were characterized by generalized light brown skin pigment, light brown hair, blue to brown irides, nystagmus, and reduced retinal pigment. There was little accumulation or change of pigment in the eyes or skin with age. The generalized light skin pigment was effective in reducing sensitivity to solar radiation and very few BA had premalignant keratoses. Pedigree analysis for BA suggested an autosomal recessive inheritance pattern.
Prenatal diagnosis of harlequin ichthyosis
Authors: Elias Sherman , Mazur Michael , Sabbagha Rudy , Esterly Nancy B. , Simpson Joe Leigh
Published: July 2010

We report the successful prenatal diagnosis of ichthyosis in the fetus of a woman whose previous liveborn child was affected with “harlequin ichthyosis”. The fetal diagnosis was established through analysis of ultrasonographically guided fetoscopic skin biopsies. These biopsies showed premature hyperkeratosis, most marked around hair follicles and sweat ducts, and forming plugs of hyperkeratotic debris. These observations were in distinct contrast to those in control fetuses, whose epidermis consists of squamous epithelium only a few cells in depth with minimal keratinization.
Decreasing mosaicism in Down's syndrome
Authors: Wilson Miriam G. , Tower Joseph W. , Forsman Irene
Published: July 2010

A girl with trisomy‐21/normal mosaicism has been abserved for approximately 10 years. Her appearance is reminiscent of, but not typical for Down's syndrome, and her intellectual abilities are impaired but not to the same severe degree expected in Down's syndrome. These observations are consistent with the belief that, in persons ascertained by clinical resemblance to Down's syndrome, mosaicism with a normal cell line may dilute the typical appearance of Down's syndrome. The cytogenetic studies performed longitudinally demonstrated a significant decrease in the proportion of blood lymphocytes showing the trisornic line. The maximal decrease occurred in the first year of life. A direct preparation from the bone marrow and a fibroblast culture at 2.5 months showed 3 and 4 % trisomic cells, respectively, corresponding to the level of trisomic cells from the blood cultures during the second year of life.
Concanavalin A reactivity pattern of human amniotic fluid AFP examined by crossed affino‐immunoelectrophoresis. A definite test for neural tube defect?
Authors: Nørgaard‐Pedersen B. , Toftager‐Larsen K. , Philip J. , Hindersson P.
Published: July 2010

The percentage of alpha‐fetoprotein (AFP) not reacting with concanavalin A (con A) was determined by crossed line affino‐immunoelectrophoresis in amniotic fluid from 25 pregnancies with neural tube defects (NTD) and other fetal abnormalities giving rise to elevated AFP levels, and from 128 pregnancies with normal outcome. The percentage of con A non‐reactive AFP is significantly lower in the presence of fetal abnormalities (mean 3.4 %, range: 0.0–6.3, n = 23, compared to the percentage found in normal pregnancies (mean 17.2 %, range: 6.6–35.8 %, n = 128). In amniotic fluid samples from normal pregnancies, the percentage of con A non‐reactive AFP in 84 cases with total AFP levels lying within the 95 % reference interval was not significantly different from the percentage found in 44 cases with levels above the 95 % reference interval. The percentage of non‐reactive AFP in fetal serum and cerebrospinal fluid was of the same magnitude as found in amniotic fluids of pregnancies with fetal abnormalities. It is concluded that analysis of the percentage of con A non‐reactive AFP by crossed line affino‐immunoelectrophoresis is a simple, reliable and apparently diagnostic test for NTD and ether abnormalities with leakage of fetal serum or cerebrospinal fluid into the amniotic fluid. The test should therefore be used in all cases with only marginally elevated AFP levels, so false positives may be avoided.
Forsius‐Eriksson syndrome: Its relation to the Nettleship‐Falls X‐linked ocular albinism
Authors: O'Donnell F. E. , Green W. R. , McKusick V. A. , Forsius H. , Eriksson A. W.
Published: July 2010

On the basis of clinical data, it had previously been proposed that the Forsius‐Eriksson syndrome is identical to Nettleship‐Falls X‐linked ocular albinism. We performed biopsies of clinically‐normal skin in patients with the Forsius‐Eriksson syndrome to look for the abnormal melanosomes characteristic of Nettleship‐Falls X‐linked ocular albinism. There were no abnormalities in the melanosomes of patients with Forsius‐Eriksson syndrome. Thus, this syndrome is distinct from the Nettleship‐Falls disorder.
Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32→13qter
Authors: Telfer M. A. , Clark C. E. , Casey P. A. , Cowell H. R. , Stroud H. H.
Published: July 2010

A de novo partial 13q monosomy is reported in a severely affected 8–year‐old female with the karyotype 46, XX, del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, ptosis, flat nasal bridge, protruding upper incisors, facial asymmetry, short neck, hypoplastic thumbs, scoliosis and clubfeet. The deletion was demonstrable by R‐banding but was not apparent by GTG banding. The locus for esterase D (EC 3.1.1.1) is excluded from the deleted segment 13q32→13qter.
The use of genetic linkage in counselling families with dystrophia myotonica
Authors: Gibson Sheila L. M. , Ferguson‐Smith M. A.
Published: July 2010

The linkage between the secretor locus (Se) and the locus for the dystrophia myotonica gene (Dm) has been studied in eight families. It was hoped that this linkage would be of use for detecting carriers of the Dm gene prior to the onset of clinical signs. It proved to be of help in four out of the eight families, though for only a proportion of the individuals at risk. In one family prenatal diagnosis would have been possible for the mother of the proband, but she elected to be sterilised. In a ninth family in which the diagnosis is not yet established, prenatal diagnosis would be feasible should the proband prove to have myotonic dystrophy. Cases of infantile DM occurred in four of the eight families. In all instances, the gene was inherited from the mother. The incidence of miscarriage and neonatal death was six times as high in the families of DM sufferers as in the families of their normal siblings.
Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis
Authors: ERICKSON RobertP. , Woolliscroft James , Allen RichardJ.
Published: July 2010

Two out of six siblings with neurofibromatosis (in a sibship of eight) had clinical and roentgenographic evidence of Moyamoya‐type, intracranial arterial occlusive disease. This rare vascular complication of neurofibromatosis has not previously occurred among primary relatives. Several possible etiologies for such an association are discussed.
Properties and significance of a small marker chromosome in amniotic fluid cells
Authors: Neri Giovanni , Malvezzi DonatellaCagiano , Serra Angelo , Bova Renato , Pelino Alessandro , Maugiatti Lucia
Published: July 2010

We report the presence of a small supernumerary metacentric chromosome in an amniotic fluid cell culture. The extra chromosome was inherited from the mosaic mother, and was characterized by the presence of four satellite regions, two on each side of the centromere. The pregnancy proceeded to term, and our findings were confirmed in the clinically normal offspring. The problems posed by the presence of the marker chromosome, in terms of both cytogenetic diagnosis and genetic counseling, are discussed in the light of similar cases from the literature.
Idiopathic intestinal pseudo‐obstruction: A familial visceral neuropathy
Authors: Roy A. D. , Bharucha H. , Nevin N. C. , Odling‐Smee G. W.
Published: July 2010

Four individuals with idiopathic intestinal pseudo‐obstruction (IIP), a familial visceral neuropathy with autosomal dominant inheritance, are presented. The disorder is characterised by abdominal colic, abdominal distension and diarrhoea, and is of a progressive nature with relapses and remissions. The main feature is a disturbance of motility in the affected intestine, with histological evidence of a neuronal disorder, characterised by hyperplasia and eventual atrophy. Management of the condition is difficult; initially, treatment should be conservative by nasogastric suction with intravenous nutrition. When laparotomy is undertaken to exclude mechanical obstruction, resection of the intestine is inadvisable, and ileocolic anastomosis may be beneficial.
XX Male with breast cancer
Authors: Giammarini Alberto , Rocchi Mariano , Zennaro Walter , Filippi Giorgio
Published: July 2010

We present the case of a 66‐year‐old XX male who developed breast cancer on the left side at the age of 61. His clinical, endocrinological and cytogenetic features are described. The presence of hypospadias and cancer in the left breast are noteworthy; the latter is very rarely found in Klinefelter syndrome patients. An outline of the pathogenesis of breast cancer in XX male patients is also given. This is the first report of an XX male with breast cancer.
Prader‐Willi syndrome and a bisatellited derivative of chromosome 15
Authors: Wisniewski Lawrence P. , Witt Mary E. , Ginsberg‐Fellner Fredda , Wilner Judith , Desnick Robert J.
Published: July 2010

Ade novobisatellited derivative of chromosome 15, inv dup (15) (pter→q11 or 12::p11 or q11 or 12 →pter), was identified by multiple banding techniques in a patient with Prader‐Willi syndrome. A comparison of familial no. 15 short arm polymorphisms indicated that the extra chromosome was the result of a non‐sister chromatid exchange between the paternal no. 15 homologs prior to or during meiosis.
Application of the lod score method to detection of linkage between HLA and juvenile insulin‐dependent diabetes
Authors: Cleroet‐Darpoux F. , Bonaiti‐Pellie C. , Hors J. , Deschamps I. , Peingold N.
Published: July 2010

The lod score method has been applied to 28 informative families with at least one child suffering from juvenile insulin‐dependent diabetes (JIDD), assuming autosomal recessive inheritance, for detection of linkage between HLA and a susceptibility locus for this disease. These 28 families were pooled with 21 other families from the literature. The maximum lod scores were obtained for recombination fractions from 4 to 16 %, according to the level of penetrance (10 to 90 %). These high estimates of the recombination fraction are not in agreement with the hypothesis that the association between JIDD and specific HLA haplotypes is due to a simple linkage disequilibrium between the HLA region and a susceptibility locus for JIDD.
Clinical, hematological and genetic features of sickle‐cell anemia and sickle cell‐β thalassemia in a Brazilian population
Authors: Zago M. A. , Costa F. F. , Freitas T. C. , Bottura C.
Published: July 2010

Clinical, hematological and genetic studies were carried out on 40 patients with symptomatic sickle‐cell disease, selected on the basis of a predominant HbS fraction and absence of other abnormal hemoglobin variants. Family studies showed they included 26 homo‐zygotes for the sickle‐cell gene (SS) and 14 double heterozygotes for both the sickle‐cell and the β°‐thalassemia genes (Sβ°‐thalassemia). Comparison of the two groups revealed the more common occurrence of splenomegaly, lower MCV and MCH, and higher HbAa in Sβ°‐thalassemia. Total hemoglobin was slightly lower in SS disease but the difference was not significant. Fetal hemoglobin (HbF) was moderately elevated to similar levels in both groups. These results suggest a high incidence of Sβ°thalassemia in certain Brazilian mixed populations and confirm the severity of the double heterozygous state. The distinction between the two disorders is often difficult, but can be made on the basis of the hematological data taken together with family studies.
The campomelic syndrome in a singleton and monozygotic twins
Authors: Moedjono Sri J. , Crandall Barbara F. , Sparkes Robert S. , Feldman Gary M. , Austin Garth E. , Perry Sheryl
Published: July 2010

We describe here three patients with the campomelic syndrome, two of whom were identical twins. Both twins were phenotypically female but had an XY chromosome complement.
Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter
Authors: Kirkels V. G. H. J. , Hustinx Th. W. J. , Scheres J. M. J. C.
Published: July 2010

This paper describes the unexpected transmission of a translocation (22;22) (pl3;qll) from a mother to her phenotypically normal daughter (the proband). Both women had had multiple abortions. No signs of mosaicism with respect to chromosome No. 22 were found in the proband or in her mother. Until now, it has been generally assumed that carriers of a 22/22 translocation will have only abnormal conceptuses. The transmission of this translocation from a balanced carrier to a phenotypically normal daughter was therefore highly unexpected and is not easy to explain. Early postzygotic loss of a chromosome no. 22 from a trisomic zygote, or fertilization of an oocyte carrying the translocation by a sperm nullisomic for chromosome no. 22 could have led to the balanced chromosome pattern of the proband.
Quantitative analysis of 6985 digitized trypsin G ‐banded human metaphase chromosomes
Authors: Lundsieen Claes , Philip John , Granum Erik
Published: July 2010

The frequency and staining intensity of the dark bands were measured in 6985 trypsin G‐banded human chromosomes, described by so‐called band transition sequences which represent the chromosome banding patterns in a condensed quantitative way. In the haploid chromosome complement a maximum of 351 bands were registered: 181 white and 170 dark bands. The frequency with which bands occurred and the staining intensity of the bands differed considerably between the chromosome types. Among the dark bands the darker stained bands occurred more frequently than the lighter stained bands. A study of the relationship between the degree of chromosome contraction and the frequency of band occurrence revealed that for all chromosome types the average band frequency increased with increasing chromosome elongation. Twenty of the 23 dark bands chosen as landmarks by the Paris Conference (1971) occurred with high frequency and staining intensity. The remaining three landmarks occurred less frequently, due to fusion of dark and white bands, respectively.

A study of global features showed, as expected, good agreement between chromosome length, area and density. There was good agreement between the centromeric indices determined by length and area, respectively, and no difference was found between contracted and elongated chromosomes, with the exception of the acrocentrics where elongated chromosomes showed higher centromeric indices than contracted chromosomes. Most often, the centromeric index by density differed considerably from the centromeric indices by length and area, respectively.

The data presented here may be used in clinical cytogenetics as a supplement to the ISCN idiograms (ISCN 1978), as the band frequencies and staining intensities may help in identifying and characterizing specific bands.
Prenatal diagnosis of Gaucher disease Assay of the ß‐glucosidase activity in amniotic fluid cells cultivated in two laboratories with different cultivation conditions
Authors: Svennerholm Lars , Håkansson Gunilla , Lindsten Jan , Wahlström Jan , Dreborg Sten
Published: July 2010

Sixteen pregnancies at risk for Gaucher disease ‐ six with the Norrbottnian form, one with a juvenile form with a similar clinical course to the patients from Norrbotten and nine with the infantile form ‐ have been monitored by the assay of β‐glucosidase activity in cultivated amniotic fluid cells with natural labelled glycosylceramide as substrate. Two methods of cultivation were compared in respect of their effect on the activity of lysosomal enzymes. No significant difference was found between the two marker enzymes, β‐galactosidase and N‐acetyl‐β‐glucosaminidase, but the β‐glucosidase activity was significantly higher in the cells cultivated with one of the methods. In four of the pregnancies at risk, the β‐glucosidase activity in the cultivated amniotic fluid cells was less than 5 % of that in the two control materials. These fetuses were regarded as affected with Gaucher disease and were aborted. Differentiation between controls and Gaucher heterozygotes was not possible in cultivated amniotic fluid cells. The diagnosis of Gaucher disease in the amniotic fluid cells was confirmed in three of the four cases by the assay of the β‐glucosidase activity in the liver and brain of the aborted fetuses. The glucosylceramide content of the liver from two aborted fetuses was not augmented. The β‐glucosidase activity was examined in seven placentas from pregnancies at risk for Gaucher disease and found to be in agreement with that in the cultivated amniotic fluid cells.
Trisomy 3 mosaicism in a live‐born infant
Authors: Metaxotou C. , Tsenghi Ch. , Bitzos I. , Strataki‐Benetou M. , Kalpini‐Mavrou A. , Matsaniotis N.
Published: July 2010

We report on the first case of trisomy 3 detected in the lymphocytes of a live‐born infant who died at the age of 5 months. A normal 46, XX karyotype was found in skin fibroblast cultures, which could account for the child's viability and lack of gross phenotypic malformations.