Raine syndrome: expanding the radiological spectrum

International Nuclear Information System (INIS)

Koob, Meriam; Dietemann, Jean-Louis; Doray, Berenice; Fradin, Melanie; Astruc, Dominique

2011-01-01

We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology. (orig.)

Keratosis Punctata of Palmar Creases

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T P Thankappan

1982-01-01

Full Text Available Five cases of keratosis punctata of palmar creases which isaa variant of keratosis punctata are reported. Two of these cases were associated with psoriasis and one case with dermatitis herpetiformis. Familial tendency was noticed in 4 cases.

Poisoning by Poiretia punctata in cattle and sheep

Science.gov (United States)

Poiretia punctata (Willd.) Desv. was associated with cattle and sheep poisoning on nine farms in the State of Sergipe, northeastern Brazil. The animals were found dead or died later after showing clinical signs for up to 18 hours. Two sheep that ingested 40g/kg body weight (g/kg) of fresh P punctata...

Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13

NARCIS (Netherlands)

Shimozawa, N.; Suzuki, Y.; Zhang, Z.; Imamura, A.; Tsukamoto, T.; Osumi, T.; Tateishi, K.; Okumoto, K.; Fujiki, Y.; Orii, T.; Barth, P. G.; Wanders, R. J.; Kondo, N.

1998-01-01

Ten complementation groups of generalized peroxisome biogenesis disorders (PBD), (excluding rhizomelic chondrodysplasia punctata) have been identified using complementation analysis. Four of the genes involved have been identified using two different methods of (1) genetic functional complementation

Peroxisomal Leukoencephalopathy

NARCIS (Netherlands)

Poll-The, Bwee Tien; Engelen, Marc

2012-01-01

Peroxisomal leukoencephalopathies include diseases belonging to the Zellweger spectrum and the rhizomelic chondrodysplasia punctata spectrum, as well as some single enzyme defects of peroxisomal beta-oxidation. The authors present information on the clinical and diagnostic approach, and the

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

NARCIS (Netherlands)

Klouwer, Femke C. C.; Huffnagel, Irene C.; Ferdinandusse, Sacha; Waterham, Hans R.; Wanders, Ronald J. A.; Engelen, Marc; Poll-The, Bwee Tien

2016-01-01

Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders,

Genetics Home Reference: rhizomelic chondrodysplasia punctata

Science.gov (United States)

... 1: report of mutations in 3 children from India. J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717. Citation on PubMed Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim ...

New foci of Haemaphysalis punctata and Dermacentor reticulatus in the Netherlands

NARCIS (Netherlands)

Hofmeester, Tim R.; Lei, van der Pieter Bas; Docters Van Leeuwen, Arieke; Sprong, Hein; Wieren, van Sipke E.

2016-01-01

In 2014 Haemaphysalis punctata was found in several locations on the mainland of the Netherlands for the first time since 1897. In the same areas Dermacentor reticulatus and Ixodes ricinus were found. Haemaphysalis punctata and D. reticulatus were tested for presence of Babesia spp. and

Leucodermia punctata após tratamento com Puvasol tópico Leukoderma punctata following topical PUVAsol treatment

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Nurimar Conceição Fernandes

2010-08-01

Full Text Available Duas adolescentes e uma menina com vitiligo clinicamente diagnosticado foram tratadas com 8-metoxipsoraleno a 0,2% em creme Lanette com subsequente exposição solar. Um ano após, apresentaram máculas acrômicas na área do vitiligo. A biópsia de pele em um dos casos revelou melanócitos com escassa pigmentação melânica. Os achados clínicos e histológicos sugerem o diagnóstico de leucodermia punctata.Two adolescent females and a girl, all with clinically diagnosed vitiligo, were treated with 0.2% 8-methoxypsoralen cream followed by exposure to solar ultraviolet light. One year later, they developed hypopigmented and achromic spots on the areas affected by the vitiligo. Biopsy of skin tissue taken from one of these cases showed a marked reduction in melanin. Clinical and histological findings point to a diagnosis of leukoderma punctata.

Detection of Alien Oryza punctata Kotschy Chromosomes in Rice, Oryza sativa L., by Genomic in situ Hybridization

OpenAIRE

Yasui, Hideshi; Nonomura, Ken-ichi; Iwata, Nobuo; 安井, 秀; 野々村, 賢一; 岩田, 伸夫

1997-01-01

Genomic in situ hybridization (GIS H) using total Oryza punctata Kotschy genomic DNA as a probe was applied to detect alien chromosomes transferred from O. punctata (W1514: 2n=2x=24: BB) to O. sativa Japonica cultivar, Nipponbare (2n=2x=24: AA). Only 12 chromosomes in the interspecific hybrids (2n=3x=36: AAB) between autotetraploid of O. sativa cultivar Nipponbare and a diploid strain of O. punctata (W1514) showed intense staining by FITC in mitotic metaphase spreads. Only one homologous pair...

Genetics Home Reference: X-linked chondrodysplasia punctata 1

Science.gov (United States)

... 22 [updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

Genetics Home Reference: X-linked chondrodysplasia punctata 2

Science.gov (United States)

... thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine ( ... tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. ...

Murk Jansen's metaphyseal chondrodysplasia with long-term follow-up

International Nuclear Information System (INIS)

Silverthorn, K.G.; Houston, C.S.; Duncan, B.P.

1987-01-01

The fourteenth reported patient with Murk Jansen's metaphyseal chondrodysplasia is presented, with a remarkable followup from birth to the age of 15 years. Numerous invasive procedures were performed in pursuit of erroneous provisional diagnoses. Five of these patients presented in infancy with radiographic metaphyseal changes similar to rickets, but with preservation of the provisional zone of calcification. Following infancy, these patients reveal the more typical short-limbed dwarfism, with fusiform joints and bowed extremities. (orig.)

Responses of Landoltia punctata to cobalt and nickel: Removal, growth, photosynthesis, antioxidant system and starch metabolism.

Science.gov (United States)

Guo, Ling; Ding, Yanqiang; Xu, Yaliang; Li, Zhidan; Jin, Yanling; He, Kaize; Fang, Yang; Zhao, Hai

2017-09-01

Landoltia punctata has been considered as a potential bioenergy crop due to its high biomass and starch yields in different cultivations. Cobalt and nickel are known to induce starch accumulation in duckweed. We monitored the growth rate, net photosynthesis rate, total chlorophyll content, Rubisco activity, Co 2+ and Ni 2+ contents, activity of antioxidant enzymes, starch content and activity of related enzymes under various concentrations of cobalt and nickel. The results indicate that Co 2+ and Ni 2+ (≤0.5mgL -1 ) can facilitate growth in the beginning. Although the growth rate, net photosynthesis rate, chlorophyll content and Rubisco activity were significantly inhibited at higher concentrations (5mgL -1 ), the starch content increased sharply up to 53.3% dry weight (DW) in L. punctata. These results were attributed to the increase in adenosine diphosphate-glucose pyrophosphorylase (AGPase) and soluble starch synthase (SSS) activities and the decrease in α-amylase activity upon exposure to excess Co 2+ and Ni 2+ . In addition, a substantial increase in the antioxidant enzyme activities and high flavonoid contents in L. punctata may have largely resulted in the metal tolerance. Furthermore, the high Co 2+ and Ni 2+ contents (2012.9±18.8 and 1997.7±29.2mgkg -1 DW) in the tissue indicate that L. punctata is a hyperaccumulator. Thus, L. punctata can be considered as a potential candidate for the simultaneous bioremediation of Co 2+ - and Ni 2+ -polluted water and high-quality biomass production. Copyright © 2017 Elsevier B.V. All rights reserved.

A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens

NARCIS (Netherlands)

Littink, Karin W.; van Genderen, Maria M.; van Schooneveld, Mary J.; Visser, Linda; Riemslag, Frans C. C.; Keunen, Jan E. E.; Bakker, Bjorn; Zonneveld, Marijke N.; den Hollander, Anneke I.; Cremers, Frans P. M.; van den Born, L. Ingeborgh

2012-01-01

Purpose: To determine the genetic defect and to describe the clinical characteristics in patients with retinitis punctata albescens (RPA) and fundus albipunctatus (FAP). Design: Case series/observational study. Participants: We included 13 patients affected by RPA or FAP. Methods: Thirteen patients

A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens.

NARCIS (Netherlands)

Littink, K.W.; Genderen, M.M. van; Schooneveld, M.J. van; Visser, L.; Riemslag, F.C.; Keunen, J.E.E.; Bakker, B.; Zonneveld, M.N.; Hollander, A.I. den; Cremers, F.P.M.; Born, L.I. van den

2012-01-01

PURPOSE: To determine the genetic defect and to describe the clinical characteristics in patients with retinitis punctata albescens (RPA) and fundus albipunctatus (FAP). DESIGN: Case series/observational study. PARTICIPANTS: We included 13 patients affected by RPA or FAP. METHODS: Thirteen patients

Effects of nutrient media on vegetative growth of Lemna minor and Landoltia punctata during in vitro and ex vitro cultivation

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Chokchai Kittiwongwattana

2013-01-01

Full Text Available Lemnaceous plants, namely Lemna minor and Landoltia punctata, have been used in various types of biological research. The effects of Murashige and Skoog (MS and Hoagland media on vegetative growth rate of both species during in vitro and ex vitro cultivation were investigated. Under axenic conditions, frond proliferation of L. minor and Lan. punctata in Hoagland medium are 8 and 11.5% respectively faster than that in MS medium. Biomass production in Hoagland medium also increases 2.2-fold (L. minor and 1.4-fold (Lan. punctata compared to MS medium. The roots of both species in MS medium are distinctly shorter than those in Hoagland medium. In contrast, ex vitro regeneration of frond colonies in MS medium is 22.2% (for L. minor and 17.1% (for Lan. punctata faster than in Hoagland medium. Similarly, ex vitro biomass production of both species in MS increases 1.8-fold (for L. minor and 1.3-fold (for Lan. punctata compared to that in Hoagland medium. Root elongation of the frond colonies in MS and Hoagland media is comparable. The distinct effects of MS and Hoagland media on vegetative growth of both species and the pre-determination of ex vitro growth rates in each medium are demonstrated.

Coumarin embryopathy

International Nuclear Information System (INIS)

Struwe, F.E.; Reinwein, H.; Stier, R.; Freiburg Univ.

1984-01-01

Anticoagulant therapy using Coumarin derivatives (vitamin K antagonists) during early pregnancy may result in a characteristic embryopathy appearing as a phaenocopy ov chondrodysplasia punctata (Conradi-Huenermann's disease). This has been suggested in advance by observations made in newborns of mothers who had been treated previously with Warfarin or Acenocoumon. Similar observations made in a newborn after the mother's treatment with Phencoumon in early pregnancy are described in this paper. Coumarin embryopathy is proposed as a common term. (orig.)

Cytotoxic and genotoxic affects of acid mine drainage on fish Channa punctata (Bloch).

Science.gov (United States)

Talukdar, B; Kalita, H K; Basumatary, S; Saikia, D J; Sarma, D

2017-10-01

The investigation deals with the effects of Acid Mine Drainage (AMD) of coal mine on fish Channa punctata (Bloch) by examining the incidence of haematological, morphological, histological changes and DNA fragmentation in tissues of C. punctata in laboratory condition. For this study fishes were exposed to 10% of AMD for a period of 30 days. The fusion of the primary and secondary gill lamellae, distortion, loss of alignment, deposition of worn out tissues and mucous on the surface of the lamella in the gills; degeneration of morphological architecture, loss of alignment of tubules, mucous deposition in the kidney; cellular damage, cellular necrosis, extraneous deposition on the surface, pore formation in the liver are some important changes detected by scanning electron microscopy. Fishes of AMD treated group showed gradual significant decrease in TEC, Hb and, increase in TLC and DLC as compared to that of the control. DNA fragmentation observed in kidney of fishes from treated group indicates an intricate pollutant present in the AMD. The high incidence of morphological and histological alterations, haematological changes along with DNA breakage in C. punctata is an evidence of the cytotoxic and genotoxic potential of AMD of coal mines. Copyright © 2017 Elsevier Inc. All rights reserved.

Intraspecific variations in Cyt b and D-loop sequences of Testudine species, Lissemys punctata from south Karnataka

OpenAIRE

R. Lalitha; V.R. Chandavar

2018-01-01

The freshwater Testudine species have gained importance in recent years, as most of their population is threatened due to exploitation for delicacy and pet trade. In this regard, Lissemys punctata, a freshwater terrapin, predominantly distributed in Asian countries has gained its significance for the study. A pilot study report on mitochondrial markers (Cyt b and D-loop) conducted on L. punctata species from southern Karnataka, India was presented in this investigation. A complete region span...

Coumarin embryopathy

Energy Technology Data Exchange (ETDEWEB)

Struwe, F.E.; Reinwein, H.; Stier, R.

1984-02-01

Anticoagulant therapy using Coumarin derivatives (vitamin K antagonists) during early pregnancy may result in a characteristic embryopathy appearing as a phaenocopy of chondrodysplasia punctata (Conradi-Huenermann's disease). This has been suggested in advance by observations made in newborns of mothers who had been treated previously with Warfarin or Acenocoumon. Similar observations made in a newborn after the mother's treatment with Phencoumon in early pregnancy are described in this paper. Coumarin embryopathy is proposed as a common term.

Murk Jansen's metaphyseal chondrodysplasia with long-term follow-up

Energy Technology Data Exchange (ETDEWEB)

Silverthorn, K.G.; Houston, C.S.; Duncan, B.P.

1987-02-01

The fourteenth reported patient with Murk Jansen's metaphyseal chondrodysplasia is presented, with a remarkable followup from birth to the age of 15 years. Numerous invasive procedures were performed in pursuit of erroneous provisional diagnoses. Five of these patients presented in infancy with radiographic metaphyseal changes similar to rickets, but with preservation of the provisional zone of calcification. Following infancy, these patients reveal the more typical short-limbed dwarfism, with fusiform joints and bowed extremities.

Radiographic diagnosis of hereditary chondrodysplasia in newborn lambs

International Nuclear Information System (INIS)

Vanek, J.A.; Walter, P.A.; Alstad, A.D.

1989-01-01

Normal appearing Suffolk lambs affected with hereditary chondrodysplasia (HC) and normal appearing unaffected lambs were radiographed at birth, and at 2, 4, and 8 weeks of age. In affected lambs, lesions were seen consistently in the elbows, shoulders, sternum, and spine. Similar lesions were not identified in unaffected lambs. A malformed Corriedale lamb was radiographed to compare its lesions to those seen in HC. The Corriedale lamb had islands of ossification of the anconeal process similar to those identified in lambs with signs of HC at birth. The islands of ossification seen in the Corriedale lamb were fused by 2 months of age, whereas elbow lesions seen in lambs with HC increased in severity during the same period

Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10.

Directory of Open Access Journals (Sweden)

Kaisa Kyöstilä

Full Text Available The skeletal dysplasias are disorders of the bone and cartilage tissues. Similarly to humans, several dog breeds have been reported to suffer from different types of genetic skeletal disorders. We have studied the molecular genetic background of an autosomal recessive chondrodysplasia that affects the Norwegian Elkhound and Karelian Bear Dog breeds. The affected dogs suffer from disproportionate short stature dwarfism of varying severity. Through a genome-wide approach, we mapped the chondrodysplasia locus to a 2-Mb region on canine chromosome 17 in nine affected and nine healthy Elkhounds (praw = 7.42×10(-6, pgenome-wide = 0.013. The associated locus contained a promising candidate gene, cartilage specific integrin alpha 10 (ITGA10, and mutation screening of its 30 exons revealed a nonsense mutation in exon 16 (c.2083C>T; p.Arg695* that segregated fully with the disease in both breeds (p = 2.5×10(-23. A 24% mutation carrier frequency was indicated in NEs and an 8% frequency in KBDs. The ITGA10 gene product, integrin receptor α10-subunit combines into a collagen-binding α10β1 integrin receptor, which is expressed in cartilage chondrocytes and mediates chondrocyte-matrix interactions during endochondral ossification. As a consequence of the nonsense mutation, the α10-protein was not detected in the affected cartilage tissue. The canine phenotype highlights the importance of the α10β1 integrin in bone growth, and the large animal model could be utilized to further delineate its specific functions. Finally, this study revealed a candidate gene for human chondrodysplasias and enabled the development of a genetic test for breeding purposes to eradicate the disease from the two dog breeds.

Histo-morphology of the alimentary canal in two freshwater snakehead fish Channa punctata and Channa striata

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Mita Borman

2015-12-01

Full Text Available The histo-morphological study of the alimentary canal of two carnivore freshwater snakehead fish Channa punctata and C. striata was carried out from October 2013 to July 2014. It revealed that three major parts like oesophagus, stomach and intestine composed of short thick-walled body. The oesophagus begins with buccopharynx. Structure and arrangement of both villiform and canine teeth on jaws in C. striata are more extendable and stronger than C. punctata and thereby made the former one more successful predator. The availability and arrangement pattern of mucous pits and taste bud pores in oesophagus are also prominent in C. striata. The TS of stomach of both the species has broad GM devoid of goblet mucous cells, but surface layer CC and basal layer GG open through gastric pits. The length of intestine (16.0 cm and intestinal pyloric caeca (5.5 cm in C. striata are larger than C. punctata (7.0 cm and 1.5 cm, respectively. However, the TS of intestinal Sr. 0.05 mm; MM. 0.8 mm; Mu 0.5 mm suggest in favour of carnivore habit of both the species.

Subcellular distribution of uranium in the roots of Spirodela punctata and surface interactions

Energy Technology Data Exchange (ETDEWEB)

Nie, Xiaoqin, E-mail: xiaoqin_nie@163.com [Fundamental Science on Nuclear Wastes and Environmental Safety Laboratory, Mianyang 621010 (China); Key Laboratory of Radiation Physics and Technology (Sichuan University), Ministry of Education, Institute of Nuclear Science and Technology, Sichuan University, Chengdu 610064 (China); Dong, Faqin, E-mail: fqdong2004@163.com [Fundamental Science on Nuclear Wastes and Environmental Safety Laboratory, Mianyang 621010 (China); Liu, Ning [Key Laboratory of Radiation Physics and Technology (Sichuan University), Ministry of Education, Institute of Nuclear Science and Technology, Sichuan University, Chengdu 610064 (China); Liu, Mingxue [Fundamental Science on Nuclear Wastes and Environmental Safety Laboratory, Mianyang 621010 (China); Zhang, Dong; Kang, Wu [Institute of Nuclear Physics and Chemistry,China Academy of Engineering Physics, Mianyang 621900 (China); Sun, Shiyong; Zhang, Wei; Yang, Jie [Fundamental Science on Nuclear Wastes and Environmental Safety Laboratory, Mianyang 621010 (China)

2015-08-30

Graphical abstract: - Highlights: • The proportion of uranium concentration approximate as 8:2:1 in the cell wall organelle and cytosol fractions of roots of S. punctata. • The particles including 35% Fe (wt%) released from the cells after 100 mg/L U treatment 48 h. • Most of the uranium bound onto the root surface and contacted with phosphorus ligands and formed as nano-scales U-P lamellar crystal. • FTIR and XPS analyses result indicates the uranium changed the band position and shapes of phosphate group, and the region of characteristic peak belongs to U(VI) and U(IV) were also observed. - Abstract: The subcellular distribution of uranium in roots of Spirodela punctata (duckweed) and the process of surface interaction were studied upon exposure to U (0, 5–200 mg/L) at pH 5. The concentration of uranium in each subcelluar fraction increased significantly with increasing solution U level, after 200 mg/L uranium solution treatment 120 h, the proportion of uranium concentration approximate as 8:2:1 in the cell wall organelle and cytosol fractions of roots of S. punctata. OM SEM and EDS showed after 5–200 mg/L U treatment 4–24 h, some intracellular fluid released from the root cells, after 100 mg/L U treatment 48 h, the particles including 35% Fe (wt%) and other organic matters such as EPS released from the cells, most of the uranium bound onto the root surface and contacted with phosphorus ligands and formed as nano-scales U-P lamellar crystal, similar crystal has been found in the cell wall and organelle fractions after 50 mg/L U treatment 120 h. FTIR and XPS analyses result indicates the uranium changed the band position and shapes of phosphate group, and the region of characteristic peak belongs to U(VI) and U(IV) were also observed.

Metaphyseal chondrodysplasia, Schmid type - clinical and radiographic deliniation with a review of the literature

International Nuclear Information System (INIS)

Lachmann, R.S.; Rimoin, D.L.; Spranger, J.; Mainz Univ.

1988-01-01

Analysis of 20 cases of metaphyseal chondrodysplasia, Schmid type as well as a review of the world literature reveals a specific autosomal dominant disorder that was often over diagnosed in the past, sometimes resulting in incorrect genetic counselling. Significant radiologic features include an enlarged capital femoral epiphysis in early childhood, coxa vara, greater involvement of the distal femoral metaphysis than the proximal, anterior rib changes and a normal spine. Chondroosseous morphology is not specific. Presentation in nonfamilial cases is no earlier than the second year of life. (orig.)

Cooperia punctata trickle infections: parasitological parameters and evaluation of a Cooperia recombinant 14.2 kDa protein ELISA for estimating cumulative exposure of calves.

Science.gov (United States)

Yatsuda, A P; Kooyman, F N J; Ploeger, H W; Vieira-Bressan, M C R; de Vries, E; Eysker, M

2002-04-30

Three groups of four calves each were trickle infected with three different levels of Cooperia punctata: 310 (group A), 1250 (group B) and 5000 (group C) third stage infective larvae (L3) twice a week over a 17-week period. Group D was the non-infected control group. Parasitological parameters as faecal egg counts (epg), worm burdens, size of worms and number of eggs per female were collected and the differences between the groups compared. Serological analyses were also conducted to investigate the efficiency of a recombinant C. oncophora CoES 14.2kDa protein in an ELISA to detect C. punctata antibodies. Group C had higher faecal egg counts until week 9 when the values decreased to those in group B. Mean faecal egg counts in group A were always lower than in the two other infected groups. The worm burdens were highest in group C, and lowest in group A, although the number of worms as a percentage of total larval intake was higher for the lower group. The mean length of the worms was shorter and the number of eggs per female lower for group C than for both other groups. ELISA using the CoES 14.2kDa proved to be efficient in measuring C. punctata antibodies. For group C it took 4 weeks to get increased levels of antibodies and this was one and 2 months more for groups B and A, respectively. Overall, there was a congruent relation between C. punctata antibodies and the cumulative exposure to the three different levels of trickle infections.

The effect of Zuccagnia punctata, an Argentine medicinal plant, on virulence factors from candida species.

Science.gov (United States)

Gabriela, Nuño; Rosa, Alberto María; Catiana, Zampini Iris; Soledad, Cuello; Mabel, Ordoñez Roxana; Esteban, Sayago Jorge; Veronica, Baroni; Daniel, Wunderlin; Ines, Isla María

2014-07-01

Zuccagnia punctata Cav. has been used as a traditional medicine in Argentina for the treatment of bacterial and fungal infections. In this study, we evaluated the ability of Z. punctata extract (ZpE) and compounds isolated from it to inhibit the growth and virulence factors of Candida species. ZpE showed inhibitory activity against planktonic cells of all assayed Candida species with MIC values of 400 microg/mL and with MFC values between 400 and 1,200 microg/mL. The principal identified compounds by HPLC-MS/MS and UV-VIS were chalcones (2',4'-dihydroxy-3'-methoxychalcone, 2',4'- dihydroxychalcone), flavones (galangin, 3,7-dihydroxyflavone and chrysin) and flavanones (naringenin, 7-hydroxyflavanone and pinocembrine). These compounds were more effective as inhibitors than the extracts upon biofilm formation as well as on preformed Candida biofilm and yeast germ tube formation. Furthermore, ZpE and chalcones are able to inhibit exoenzymes, which are responsible for the invasion mechanisms of the pathogens. All these effects could moderate colonization, thereby suppressing the pathogen invasive potential. Our results indicate that ZpE and chalcones could be used in antifungal therapy.

Phosphorus kinetics in calves experimentally submitted to a trickle infection with Cooperia punctata.

Science.gov (United States)

Louvandini, H; Rodrigues, R R; Gennari, S M; McManus, C M; Vitti, D M S S

2009-07-07

Ten male Holstein calves (74.3+/-3.2 kg LW) were used for a trial with trickle infection with Cooperia punctata to evaluate phosphorus (P) kinetics. Five calves were inoculated with 10,000 L(3) stage larvae per week during 35 days, while the other group of five calves was kept as a control. On the 29th day each calf was intravenously injected with 29.6 MBq of a (32)P solution. Blood samples were taken at 24 h periods for 7 days, after which all calves were slaughtered and worms burdens. Faeces, urine and tissue samples were taken for analysis using isotopic dilution and modeling techniques. The number of eggs per gram of faeces (EPG) was 1920+/-168 on 28th day and the total number of worms burdens was 11,131+/-1500. Infected calves showed lower feed intake and live weight gain, as well as lower P intake, absorption and retention than control calves. The P flows between body compartments were lower for blood to gastrointestinal tract (TGI), TGI to blood, blood to soft tissues, bone balance and soft tissue balance in infected calves when compared to the control. The trickle infection of C. punctata affected P metabolism due to the decrease in P retained and live weight due to fall in feed intake.

Development of a New Marker System for Identification of Spirodela polyrhiza and Landoltia punctata

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Bo Feng

2017-01-01

Full Text Available Lemnaceae (commonly called duckweed is an aquatic plant ideal for quantitative analysis in plant sciences. Several species of this family represent the smallest and fastest growing flowering plants. Different ecotypes of the same species vary in their biochemical and physiological properties. Thus, selecting of desirable ecotypes of a species is very important. Here, we developed a simple and rapid molecular identification system for Spirodela polyrhiza and Landoltia punctata based on the sequence polymorphism. First, several pairs of primers were designed and three markers were selected as good for identification. After PCR amplification, DNA fragments (the combination of three PCR products in different duckweeds were detected using capillary electrophoresis. The high-resolution capillary electrophoresis displayed high identity to the sequencing results. The combination of the PCR products containing several DNA fragments highly improved the identification frequency. These results indicate that this method is not only good for interspecies identification but also ideal for intraspecies distinguishing. Meanwhile, 11 haplotypes were found in both the S. polyrhiza and L. punctata ecotypes. The results suggest that this marker system is useful for large-scale identification of duckweed and for the screening of desirable ecotypes to improve the diverse usage in duckweed utilization.

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Science.gov (United States)

Klouwer, Femke C C; Huffnagel, Irene C; Ferdinandusse, Sacha; Waterham, Hans R; Wanders, Ronald J A; Engelen, Marc; Poll-The, Bwee Tien

2016-08-01

Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders, X-linked adrenoleukodystrophy, and multiple single enzyme deficiencies. There are several core phenotypes caused by peroxisomal dysfunction that clinicians can recognize. The diagnosis is suggested by biochemical testing in blood and urine and confirmed by functional assays in cultured skin fibroblasts, followed by mutation analysis. This review describes the phenotype of the main peroxisomal disorders and possible pitfalls in (laboratory) diagnosis to aid clinicians in the recognition of this group of diseases. Georg Thieme Verlag KG Stuttgart · New York.

Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells.

Science.gov (United States)

Jayasuriya, Chathuraka T; Zhou, Fiona H; Pei, Ming; Wang, Zhengke; Lemme, Nicholas J; Haines, Paul; Chen, Qian

2014-08-21

Studies have shown that mutations in the matrilin-3 gene (MATN3) are associated with multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD). We tested whether MATN3 mutations affect the differentiation of chondroprogenitor and/or mesenchymal stem cells, which are precursors to chondrocytes. ATDC5 chondroprogenitors stably expressing wild-type (WT) MATN3 underwent spontaneous chondrogenesis. Expression of chondrogenic markers collagen II and aggrecan was inhibited in chondroprogenitors carrying the MED or SEMD MATN3 mutations. Hypertrophic marker collagen X remained attenuated in WT MATN3 chondroprogenitors, whereas its expression was elevated in chondroprogenitors expressing the MED or SEMD mutant MATN3 gene suggesting that these mutations inhibit chondrogenesis but promote hypertrophy. TGF-β treatment failed to rescue chondrogenesis markers but dramatically increased collagen X mRNA expression in mutant MATN3 expressing chondroprogenitors. Synovium derived mesenchymal stem cells harboring the SEMD mutation exhibited lower glycosaminoglycan content than those of WT MATN3 in response to TGF-β. Our results suggest that the properties of progenitor cells harboring MATN3 chondrodysplasia mutations were altered, as evidenced by attenuated chondrogenesis and premature hypertrophy. TGF-β treatment failed to completely rescue chondrogenesis but instead induced hypertrophy in mutant MATN3 chondroprogenitors. Our data suggest that chondroprogenitor cells should be considered as a potential target of chondrodysplasia therapy.

Matrilin-3 Chondrodysplasia Mutations Cause Attenuated Chondrogenesis, Premature Hypertrophy and Aberrant Response to TGF-β in Chondroprogenitor Cells

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Chathuraka T. Jayasuriya

2014-08-01

Full Text Available Studies have shown that mutations in the matrilin-3 gene (MATN3 are associated with multiple epiphyseal dysplasia (MED and spondyloepimetaphyseal dysplasia (SEMD. We tested whether MATN3 mutations affect the differentiation of chondroprogenitor and/or mesenchymal stem cells, which are precursors to chondrocytes. ATDC5 chondroprogenitors stably expressing wild-type (WT MATN3 underwent spontaneous chondrogenesis. Expression of chondrogenic markers collagen II and aggrecan was inhibited in chondroprogenitors carrying the MED or SEMD MATN3 mutations. Hypertrophic marker collagen X remained attenuated in WT MATN3 chondroprogenitors, whereas its expression was elevated in chondroprogenitors expressing the MED or SEMD mutant MATN3 gene suggesting that these mutations inhibit chondrogenesis but promote hypertrophy. TGF-β treatment failed to rescue chondrogenesis markers but dramatically increased collagen X mRNA expression in mutant MATN3 expressing chondroprogenitors. Synovium derived mesenchymal stem cells harboring the SEMD mutation exhibited lower glycosaminoglycan content than those of WT MATN3 in response to TGF-β. Our results suggest that the properties of progenitor cells harboring MATN3 chondrodysplasia mutations were altered, as evidenced by attenuated chondrogenesis and premature hypertrophy. TGF-β treatment failed to completely rescue chondrogenesis but instead induced hypertrophy in mutant MATN3 chondroprogenitors. Our data suggest that chondroprogenitor cells should be considered as a potential target of chondrodysplasia therapy.

First records of Landoltia punctata (G.Mey.) Les & D.J.Crawford (Araceae, Lemnoideae) in Santa Catarina, southern Brazil

DEFF Research Database (Denmark)

Hassemer, Gustavo; Almeida Mohedano, Rodrigo de; Ramos Ferreira, João Paulo

2015-01-01

Landoltia punctata (G.Mey.) Les & D.J. Crawford is a cosmopolite duckweed species of significant economic and technological interest, which in the Americas had its southernmost occurrence recorded in Pontal do Paraná, Paraná state, southern Brazil. This work extends its distribution southwards...

Unusual bone dysplasia featuring severe platyspondyly and vertebral 'coronal cleft' in infancy, and changes of metaphyseal chondrodysplasia in childhood

International Nuclear Information System (INIS)

Currarino, G.; Texas Univ., Dallas

1986-01-01

This is the report of a boy who presented at birth with severe generalized platyspondyly, a vertebral ''coronal cleft'', and an abnormal configuration of the pelvis with short and broad iliac and ischial bones and horizontal acetabular roofs. The rest of the skeleton was normal. In the ensuing years the vertebral bodies and pelvis assumed a near normal configuration, but the patient developed changes of metaphyseal chondrodysplasia in the long bones of the lower limbs with progressive shortness of stature. (orig.)

Curimata punctata, a new uniquely pigmented species of curimatid from the Marowijne river basin of Surinam and French Guiana (Pisces, Characiformes)

NARCIS (Netherlands)

Vari, Richard P.; Nijssen, Han

1986-01-01

A new species of curimatid characiform, Curimata punctata, from the Marowijne River basin of Surinam and French Guiana is described and illustrated. The distinctive pattern of three to six dark midlateral spots on the body distinguishes the species from all other members of the family.

Intraspecific variations in Cyt b and D-loop sequences of Testudine species, Lissemys punctata from south Karnataka

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R. Lalitha

2018-01-01

Full Text Available The freshwater Testudine species have gained importance in recent years, as most of their population is threatened due to exploitation for delicacy and pet trade. In this regard, Lissemys punctata, a freshwater terrapin, predominantly distributed in Asian countries has gained its significance for the study. A pilot study report on mitochondrial markers (Cyt b and D-loop conducted on L. punctata species from southern Karnataka, India was presented in this investigation. A complete region spanning 1.14 kb and ∼1 kb was amplified by HotStart PCR and sequenced by Sanger sequencing. The Cyt b sequence revealed 85 substitution sites, no indels and 17 parsimony informative sites, whereas D-loop showed 189 variable sites, 51 parsimony informative sites with 5′ functional domains TAS, CSB-F, CSBs (1, 2, 3 preceding tandem repeat at 3′ end. Current data highlights the intraspecific variations in these target regions and variations validated using suitable evolutionary models points out that the overall point mutations observed in the region are transitions leading to no structural and functional alterations. The mitochondrial data generated uncover the genetic diversity within species and conservationist can utilize the data to estimate the effective population size or for forensic identification of animal or its seizures during unlawful trade activities.

Antibacterial activity and mechanism of action of Monarda punctata essential oil and its main components against common bacterial pathogens in respiratory tract.

Science.gov (United States)

Li, Hong; Yang, Tian; Li, Fei-Yan; Yao, Yan; Sun, Zhong-Min

2014-01-01

The aim of the current research work was to study the chemical composition of the essential oil of Monarda punctata along with evaluating the essential oil and its major components for their antibacterial effects against some frequently encountered respiratory infection causing pathogens. Gas chromatographic mass spectrometric analysis revealed the presence of 13 chemical constituents with thymol (75.2%), p-cymene (6.7%), limonene (5.4), and carvacrol (3.5%) as the major constituents. The oil composition was dominated by the oxygenated monoterpenes. Antibacterial activity of the essential oil and its major constituents (thymol, p-cymene, limonene) was evaluated against Streptococcus pyogenes, methicillin-resistant Staphylococcus aureus (MRSA), Streptococcus pneumoniae, Haemophilus influenzae and Escherichia coli. The study revealed that the essential oil and its constituents exhibited a broad spectrum and variable degree of antibacterial activity against different strains. Among the tested strains, Streptococcus pyogenes, Escherichia coli and Streptococcus pneumoniae were the most susceptible bacterial strain showing lowest MIC and MBC values. Methicillin-resistant Staphylococcus aureus was the most resistant bacterial strain to the essential oil treatment showing relatively higher MIC and MBC values. Scanning electron microscopy revealed that the essential oil induced potent and dose-dependent membrane damage in S. pyogenes and MRSA bacterial strains. The reactive oxygen species generated by the Monarda punctata essential oil were identified using 2', 7'-dichlorofluorescein diacetate (DCFDA).This study indicated that the Monarda punctata essential oil to a great extent and thymol to a lower extent triggered a substantial increase in the ROS levels in S. pyogenes bacterial cultures which ultimately cause membrane damage as revealed by SEM results.

Studies on the epidemiology and histopathology of Euclinostomum heterostomum (Trematoda; Digenea infection in Channa punctata from North India

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Shareef P. A. Ahammed

2015-09-01

Full Text Available A survey on the occurrence and epidemiology of the encysted progenetic metacercariae of Euclinostomum heterostomum infection in Channa punctata in the Aligarh region of North India revealed a mean prevalence, intensity, and abundance of 18.61, 1.52, and 0.38%, respectively, during the period from April 2011 to March 2012. Liver, kidney, peritoneum, muscle, and ovary were found to be infected with this parasite, and the later three are reported for the first time in this fish species. The histopathology of the infected tissues indicated the following at the host-parasite interface: tissue damage, infiltration of immune cells into the cyst wall, chronic inflammatory responses, and granulomatous lesions. The infected liver showed degeneration of hepatocytes, cytoplasmic vacuolation, nuclear alterations, mallory body formation, fibrosis, and necrosis. The pathology of the infected kidney included distortion and dilation of renal tubules, vacuolar degeneration, hypertrophy and hyperplasia of tubular epithelial cells, occlusion of tubules, fibrosis, hemorrhage, and congestion of glomeruli. The infected muscle demonstrated comparatively fewer pathological changes confined only to the circumference of the cyst wall. The ovary displayed the least changes. The conclusions drawn from the study are that the large metacercarial cysts formed by E. heterostomum in the vital organs of the economically important fish C. punctata could result in the impairment of fish physiology and health, thereby affecting their productivity and quality for human consumption.

Sea Hare Aplysia punctata (Mollusca: Gastropoda) Can Maintain Shell Calcification under Extreme Ocean Acidification.

Science.gov (United States)

Carey, Nicholas; Dupont, Sam; Sigwart, Julia D

2016-10-01

Ocean acidification is expected to cause energetic constraints upon marine calcifying organisms such as molluscs and echinoderms, because of the increased costs of building or maintaining shell material in lower pH. We examined metabolic rate, shell morphometry, and calcification in the sea hare Aplysia punctata under short-term exposure (19 days) to an extreme ocean acidification scenario (pH 7.3, ∼2800 μatm pCO 2 ), along with a group held in control conditions (pH 8.1, ∼344 μatm pCO 2 ). This gastropod and its congeners are broadly distributed and locally abundant grazers, and have an internal shell that protects the internal organs. Specimens were examined for metabolic rate via closed-chamber respirometry, followed by removal and examination of the shell under confocal microscopy. Staining using calcein determined the amount of new calcification that occurred over 6 days at the end of the acclimation period. The width of new, pre-calcified shell on the distal shell margin was also quantified as a proxy for overall shell growth. Aplysia punctata showed a 30% reduction in metabolic rate under low pH, but calcification was not affected. This species is apparently able to maintain calcification rate even under extreme low pH, and even when under the energetic constraints of lower metabolism. This finding adds to the evidence that calcification is a largely autonomous process of crystallization that occurs as long as suitable haeomocoel conditions are preserved. There was, however, evidence that the accretion of new, noncalcified shell material may have been reduced, which would lead to overall reduced shell growth under longer-term exposures to low pH independent of calcification. Our findings highlight that the chief impact of ocean acidification upon the ability of marine invertebrates to maintain their shell under low pH may be energetic constraints that hinder growth of supporting structure, rather than maintenance of calcification.

Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression.

Science.gov (United States)

Stoffel, Wilhelm; Jenke, Britta; Holz, Barbara; Binczek, Erika; Günter, Robert Heinz; Knifka, Jutta; Koebke, Jürgen; Niehoff, Anja

2007-07-01

Neutral sphingomyelinase SMPD3 (nSMase2), a sphingomyelin phosphodiesterase, resides in the Golgi apparatus and is ubiquitously expressed. Gene ablation of smpd3 causes a generalized prolongation of the cell cycle that leads to late embryonic and juvenile hypoplasia because of the SMPD3 deficiency in hypothalamic neurosecretory neurons. We show here that this novel form of combined pituitary hormone deficiency is characterized by the perturbation of the hypothalamus-pituitary growth axis, associated with retarded chondrocyte development and enchondral ossification in the epiphyseal growth plate. To study the contribution by combined pituitary hormone deficiency and by the local SMPD3 deficiency in the epiphyseal growth plate to the skeletal phenotype, we introduced the full-length smpd3 cDNA transgene under the control of the chondrocyte-specific promoter Col2a1. A complete rescue of the smpd3(-/-) mouse from severe short-limbed skeletal dysplasia was achieved. The smpd3(-/-) mouse shares its dwarf and chondrodysplasia phenotype with the most common form of human achondrodysplasia, linked to the fibroblast-growth-factor receptor 3 locus, not linked to deficits in the hypothalamic-pituitary epiphyseal growth plate axis. The rescue of smpd3 in vivo has implications for future research into dwarfism and, particularly, growth and development of the skeletal system and for current screening and future treatment of combined dwarfism and chondrodysplasia.

Neutral Sphingomyelinase (SMPD3) Deficiency Causes a Novel Form of Chondrodysplasia and Dwarfism That Is Rescued by Col2A1-Driven smpd3 Transgene Expression

Science.gov (United States)

Stoffel, Wilhelm; Jenke, Britta; Holz, Barbara; Binczek, Erika; Günter, Robert Heinz; Knifka, Jutta; Koebke, Jürgen; Niehoff, Anja

2007-01-01

Neutral sphingomyelinase SMPD3 (nSMase2), a sphingomyelin phosphodiesterase, resides in the Golgi apparatus and is ubiquitously expressed. Gene ablation of smpd3 causes a generalized prolongation of the cell cycle that leads to late embryonic and juvenile hypoplasia because of the SMPD3 deficiency in hypothalamic neurosecretory neurons. We show here that this novel form of combined pituitary hormone deficiency is characterized by the perturbation of the hypothalamus-pituitary growth axis, associated with retarded chondrocyte development and enchondral ossification in the epiphyseal growth plate. To study the contribution by combined pituitary hormone deficiency and by the local SMPD3 deficiency in the epiphyseal growth plate to the skeletal phenotype, we introduced the full-length smpd3 cDNA transgene under the control of the chondrocyte-specific promoter Col2a1. A complete rescue of the smpd3−/− mouse from severe short-limbed skeletal dysplasia was achieved. The smpd3−/− mouse shares its dwarf and chondrodysplasia phenotype with the most common form of human achondrodysplasia, linked to the fibroblast-growth-factor receptor 3 locus, not linked to deficits in the hypothalamic-pituitary epiphyseal growth plate axis. The rescue of smpd3 in vivo has implications for future research into dwarfism and, particularly, growth and development of the skeletal system and for current screening and future treatment of combined dwarfism and chondrodysplasia. PMID:17591962

Regulation of the corpora allata in male larvae of the cockroach Diploptera punctata

International Nuclear Information System (INIS)

Paulson, C.R.

1986-01-01

The regulation of corpora allata was studied in final instar males of Diploptera punctata. The glands were manipulated in vivo and removed to determine the effect by in vitro radiochemical assay for juvenile hormone synthesis. Corpora allata were also treated with putative regulatory factors in vitro. During the final stadium the corpora allata were inhibited both by nerves and by humoral factors. Neural inhibition was shown by an increase in juvenile hormone synthesis following denervation of the corpora allata. This operation elicited an extra larval instar. Humoral inhibition was shown by the decline in juvenile hormone synthesis of adult female corpora allata following transplantation into final instar larval hosts, and conversely the increase in juvenile hormone synthesis by larval corpora allata following implantation into adult females. Humoral inhibition was prevented by decapitation of larvae prior to the head critical period for molting and restored by implantation of a larval brain, showing that the brain is the source of this inhibition

Valorização biotecnológica de Landoltia punctata com vistas a uma produção de etanol

OpenAIRE

Souto, Luciana Reis Fontinelle

2016-01-01

Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico, Programa de Pós-Graduação em Engenharia de Alimentos, Florianópolis, 2016. A lemna tem sido apontada como uma biomassa potencial para a produção de etanol, devido a sua capacidade de acumular amido, possuir altas velocidades de crescimento, baixo teor de lignina, dentre outras características. Neste trabalho a produção de etanol a partir da biomassa de lemna (Landoltia punctata) foi avaliada. O estudo foi dividi...

Effects of Zuccagnia punctata extracts and their flavonoids on the function and expression of ABCB1/P-glycoprotein multidrug transporter.

Science.gov (United States)

Chieli, Elisabetta; Romiti, Nadia; Catiana Zampini, Iris; Garrido, Gabino; Inés Isla, María

2012-12-18

Zuccagnia punctata extracts (ZpE) are used in ethnomedicine as antimicrobial and anti-inflammatory drugs. The pharmacological properties of ZpE and their polyphenolic components suggest that they may be used as potential modulators on the P-glycoprotein (P-gp) multidrug transporter. P-gp is well known for its role in the acquired drug resistance by tumors following chemotherapy, causing a low drug bioavailability by extruding them out of the cells. To evaluate the effects of ZpE and three of their phenolic components: 7-hydroxyflavanone (HF), 3,7-dihydroxyflavone (DHF) and 2',4'-dihydroxychalcone (DHC) on P-gp activity and expression. The effects of natural products on ABCB1/P-gp function and expression were evaluated by R-123 accumulation assay and western blot analysis using HK-2 cells as experimental model. The ABCB1 mRNA content was determined by SQRT-PCR. The accumulation of R-123 in HK-2 cells was significantly increased by ZpE and DHF, and to a lesser extent by DHC, indicating their roles on the efflux transporter activity. However, HF did not show any effect. HK-2 cells maintained in the presence of ZpE or DHF for 72 h, showed an increase in P-gp expression whereas activity was unchanged or decreased. No changes were observed in ABCB1 mRNA content. Furthermore, in these assay conditions, more sensibility of HK-2 cells to the cytotoxic action of cyclosporine A (P-gp substrate) was observed. These results may suggest an impact of Zuccagnia punctata and some of its components on the pharmacokinetics of drugs that are P-gp substrates, as well as a potential role on multidrug resistance modulation. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3 gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes

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Thatiane Yoshie Kanazawa

2014-12-01

Full Text Available Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch. The p.N540K mutation in the FGFR3 gene occurs in ~70% of individuals with Hch, and nearly 30% of individuals with the Hch phenotype have no mutations in the FGFR3, which suggests genetic heterogeneity. The identification of a severe case of Hch associated with the typical mutation c.1620C > A and the occurrence of a c.1150T > C change that resulted in a p.F384L in exon 10, together with the suspicion that this second change could be a modulator of the phenotype, prompted us to investigate this hypothesis in a cohort of patients. An analysis of 48 patients with FGFR3 chondrodysplasia phenotypes and 330 healthy (control individuals revealed no significant difference in the frequency of the C allele at the c.1150 position (p = 0.34. One patient carrying the combination `pathogenic mutation plus the allelic variant c.1150T > C' had a typical achondroplasia (Ach phenotype. In addition, three other patients with atypical phenotypes showed no association with the allelic variant. Together, these results do not support the hypothesis of a modulatory role for the c.1150T > C change in the FGFR3 gene.

Severe Extracellular Matrix Abnormalities and Chondrodysplasia in Mice Lacking Collagen Prolyl 4-Hydroxylase Isoenzyme II in Combination with a Reduced Amount of Isoenzyme I.

Science.gov (United States)

Aro, Ellinoora; Salo, Antti M; Khatri, Richa; Finnilä, Mikko; Miinalainen, Ilkka; Sormunen, Raija; Pakkanen, Outi; Holster, Tiina; Soininen, Raija; Prein, Carina; Clausen-Schaumann, Hauke; Aszódi, Attila; Tuukkanen, Juha; Kivirikko, Kari I; Schipani, Ernestina; Myllyharju, Johanna

2015-07-03

Collagen prolyl 4-hydroxylases (C-P4H-I, C-P4H-II, and C-P4H-III) catalyze formation of 4-hydroxyproline residues required to form triple-helical collagen molecules. Vertebrate C-P4Hs are α2β2 tetramers differing in their catalytic α subunits. C-P4H-I is the major isoenzyme in most cells, and inactivation of its catalytic subunit (P4ha1(-/-)) leads to embryonic lethality in mouse, whereas P4ha1(+/-) mice have no abnormalities. To study the role of C-P4H-II, which predominates in chondrocytes, we generated P4ha2(-/-) mice. Surprisingly, they had no apparent phenotypic abnormalities. To assess possible functional complementarity, we established P4ha1(+/-);P4ha2(-/-) mice. They were smaller than their littermates, had moderate chondrodysplasia, and developed kyphosis. A transient inner cell death phenotype was detected in their developing growth plates. The columnar arrangement of proliferative chondrocytes was impaired, the amount of 4-hydroxyproline and the Tm of collagen II were reduced, and the extracellular matrix was softer in the growth plates of newborn P4ha1(+/-);P4ha2(-/-) mice. No signs of uncompensated ER stress were detected in the mutant growth plate chondrocytes. Some of these defects were also found in P4ha2(-/-) mice, although in a much milder form. Our data show that C-P4H-I can to a large extent compensate for the lack of C-P4H-II in proper endochondral bone development, but their combined partial and complete inactivation, respectively, leads to biomechanically impaired extracellular matrix, moderate chondrodysplasia, and kyphosis. Our mouse data suggest that inactivating mutations in human P4HA2 are not likely to lead to skeletal disorders, and a simultaneous decrease in P4HA1 function would most probably be required to generate such a disease phenotype. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.

Determinación enzimática y metales pesados en cerebro e hígado del modelo ecotoxicológico Gambusia punctata (Poeciliidae Enzymatic determination and heavy metals in the brain and liver in ecotoxicological model Gambusia punctata (Poeciliidae

Directory of Open Access Journals (Sweden)

George Argota Pérez

2013-02-01

Full Text Available Se realizó un estudio durante el 2011, con vistas a evaluar los niveles de actividad enzimática y metales pesados bioacumulados en cerebro e hígado de la especie Gambusia punctata, que habita en los ecosistemas San Juan y Filé de Santiago de Cuba, para lo cual se seleccionaron 3 estaciones, correspondientes a la parte alta, media y baja de ambos sistemas. Se escogieron ejemplares que midieron biométricamente de 2,1-3,0 cm de longitud total. Se determinó la enzima acetilcolinesterasa en el cerebro y la glutation-S-transferasa y catalasa, respectivamente, en el hígado. En ambos órganos se analizaron concentraciones de cobre, cinc, plomo y cadmio, tratados por vía húmeda y cuantificados por espectroscopia de plasma inductivamente acoplado con vista axial. En la especie del San Juan, los niveles enzimáticos variaron entre las estaciones, siendo mayores y estadísticamente diferentes para las hembras (pA study during 2011 was carried out in order to evaluate the levels of enzymatic activity and heavy metals bioaccumulated in brain and liver of the species Gambusia punctata, inhabiting San Juan and Filé ecosystems in Santiago de Cuba. For this purpose 3 stations were selected, corresponding to the upper, middle and lower parts of both systems. Specimens biometrically measuring 2.1-3.0 cm in total length were chosen. Acetylcholinesterase enzyme in the brain and glutathione-S-transferase and catalase in the liver were determined, respectively. Copper, zinc, lead and cadmium concentrations were analyzed in both organs, wet processed and quantified by axial view inductively coupled plasma spectroscopy. In San Juan species the enzymatic levels varied between the stations, being higher and statistically different for females (p<0.05, but in that from Filé they were similar between the parts and genders. Regarding metals, concentrations were not detected in brain, neither lead nor cadmium in the liver. Copper and zinc concentrations were higher

Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

Energy Technology Data Exchange (ETDEWEB)

Prager, D.; Braunstein, G.D. (Cedars-Sinai Medical Center, Los Angeles, CA (United States))

1993-04-01

Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linked form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.

Resistência de Haemonchus placei, Cooperia punctata e Oesophagostomum radiatum à ivermectina pour-on a 500mcgkg-1 em rebanhos bovinos no Brasil

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Welber Daniel Zanetti Lopes

2014-05-01

Full Text Available O amplo espectro de ação dos endectocidas e a praticidade de aplicação das suas formulações pour-on são fatores que têm estimulado uma maior frequência de utilização destes produtos na criação de bovinos. Neste estudo, avaliou-se a eficácia anti-helmíntica da ivermectina, administrada via pour-on, 500mcgkg-1, contra nematódeos de bovinos provenientes de diferentes rebanhos. Foram adquiridos 12 bezerros de cada um dos quatro rebanhos selecionados. Todos os 48 bezerros utilizados apresentavam médias de ovos por grama de fezes (OPG maiores que 500, considerando-se três contagens consecutivas. Na sequencia, os animais de cada rebanho foram divididos em dois grupos de seis bovinos cada, sendo um tratado com ivermectina 500mcgkg-1 via pour-on e outro mantido como controle. Quatorze dias depois do tratamento, os bovinos foram submetidos à eutanásia para contagem de endoparasitas. A ivermectina demonstrou resultados nulos de eficácia contra H. placei nos quatro rebanhos. Contra C. punctata, tal formulação teve eficácia nula nos rebanhos provenientes de Jaboticabal,SP, e de Formiga,MG, e eficácias de 75,8% e 58,4% nos rebanhos provenientes de São José do Rio Pardo,SP, e de São Sebastião do Paraíso,MG, respectivamente. Valores de eficácia de 94,2% (Jaboticabal, 0,0% (São José do Rio Pardo, 94,2% (Formiga e 39,2% (São Sebastião do Paraíso foram detectados contra O. radiatum. Com base nos resultados encontrados, pode-se concluir que as quatro populações de Haemonchus placei e de Cooperia punctata avaliadas foram resistentes à ivermectina, administrada via pour-on, 500mcgkg-1. Foram observadas cepas de Oesophagostomum radiatum resistentes à ivermectina em dois dos quatro rebanhos testados.

Ensaios sobre a metodologia do estudo da influência de três herbicidas em Spirodela punctata (G.F.W. Meyer Thompson (Lemnaceae

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Durvalina Maria Mathias dos Santos

1988-01-01

Full Text Available O presente trabalho visa conhecer a taxa de multiplicação e o índice de mortalidade de S. punctata a diversas concentrações do butaclora, propanila e glifosato bem como comparar dois métodos diferentes de investigações (ensaio 1 e 2. Os dados indicaram que no ensaio 1 as concentrações foram pouco tóxicas provocando baixos índices de mortalidade embora tenha ocorrido inibição do crescimento nas concentrações mais fortes. O ensaio 2 mostrou que a butaclora e a propanila são mais tóxicas que o glifosato, com valores de mortalidade de 100% em apenas 48 horas. A taxa de multiplicação, neste ensaio, somente foi determinada para o glifosato, pois os demais herbicidas foram altamente tóxicos para a espécie. Verificou-se, na comparação dos dois métodos diferentes, que os recipientes utilizados no ensaio 2 foram mais adequados ao cultivo da espécie e que os efeitos tóxicos devem ser observados em frondes consideradas individualmente e não em plantas inteiras.The present work looks for a knowledge of multiplícate rate and mortality index of. S. punctata to several concentrations of butachlor, propanil and gliphosate as well as to compare two different methods. On essay 1 the concentrations were a little toxic provoking low index of mortality in spite of it has occured inhibition of increasing on stronger concentrations. The essay 2 showed what, the butachlor and the propanil are more toxics than the gliphosate, with values of mortality of 100% in only 48 hours. The multiplícate rate, on this essay, was only determinated to the gliphosate, because the other herbicides were highly toxic to the species. It was checked on the comparation of the two different methods the posts used on essay 2 were more appropriate to the cultive specie and the toxic effects must be observated on considered individualy and not on whole plants.

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

NARCIS (Netherlands)

Jacobsen, Jessie C.; Glamuzina, Emma; Taylor, Juliet; Swan, Brendan; Handisides, Shona; Wilson, Callum; Fietz, Michael; van Dijk, Tessa; Appelhof, Bart; Hill, Rosamund; Marks, Rosemary; Love, Donald R.; Robertson, Stephen P.; Snell, Russell G.; Lehnert, Klaus

2015-01-01

We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia

Energy Technology Data Exchange (ETDEWEB)

Vandenberg, P.; Khillan, J.S.; Prockop, D.J.; Helminen, H.; Kontusaari, S.; Ala-Kokko, L. (Thomas Jefferson Univ., Philadelphia, PA (United States))

1991-09-01

A minigene version of the human gene for type II procollagen (COL2AI) was prepared that lacked a large central region containing 12 of the 52 exons and therefore 291 of the 1523 codons of the gene. The construct was modeled after sporadic in-frame deletions of collagen genes that cause synthesis of shortened pro{alpha} chains that associate with normal pro{alpha} chains and thereby cause degradation of the shortened and normal pro{alpha} chains through a process called procollagen suicide. The gene construct was used to prepare five lines of transgenic mice expressing the minigene. A large proportion of the mice expressing the minigene developed a phenotype of a chondrodysplasia with dwarfism, short and thick limbs, a short snout, a cranial bulge, a cleft palate, and delayed mineralization of bone. A number of mice died shortly after birth. Microscopic examination of cartilage revealed decreased density and organization of collagen fibrils. In cultured chondrocytes from the transgenic mice, the minigene was expressed as shortened pro{alpha}1(II) chains that were disulfide-linked to normal mouse pro{alpha}1(II) chains. Therefore, the phenotype is probably explained by depletion of the endogenous mouse type II procollagen through the phenomenon of procollagen suicide.

Determination of Cu, Zn, Pb and Cd by Atomic Emission Spectrometry with Inductively Coupled Plasma in Organs of the Specie Gambusia punctata (Poeciliidae)

International Nuclear Information System (INIS)

Argota Perez, George; Argota Coello, Humberto; Rodriguez Amado, Jesus; Fernandez Heredia, Angel

2013-01-01

The aim of this research was to adequate the ICP-AES method to the quantification of Cu, Zn, Pb and Cd in brain, liver and gills of the specie Gambusia punctata, in order to know the level of exposure of the ecosystems San Juan and File in Santiago de Cuba province. To achieve the fitness for purpose of the method, limits of detection, reproducibility and accuracy were evaluated using reference certificated materials of fishes. The biological samples were classified according the ecosystem, length, sex and organ. It were dried, digested with mix of acids and the metals measured in the spectrometer. The results demonstrated that factors as length and sex have not influence in the bioaccumulation, whereas the gill was the organ where all the elements were bioaccumulated. Finally, due that the smallest concentrations of metals were in the File ecosystem, it could be used as an environmental reference

Phytol in a pharma-medico-stance.

Science.gov (United States)

Islam, Md Torequl; de Alencar, Marcus Vinícius Oliveira Barros; da Conceição Machado, Katia; da Conceição Machado, Keylla; de Carvalho Melo-Cavalcante, Ana Amélia; de Sousa, Damiao Pergentino; de Freitas, Rivelilson Mendes

2015-10-05

This study aims to review phytol (PYT), through published articles, periodicals, magazines and patents, which were retrieved from the PM, SD, WS, SP; DII, WIPO, CIPO, USPTO and INPI databases. Among the 149 articles and 62 patents, 27.52% articles and 87.09% patients were found on the searched topic, PYT and its sources and synthesis and metabolism; then followed by 15.44% and 14.77% articles on PYT in cytotoxicity/cancer/mutagenicity/teratogenicity and PYT in neurological diseases, respectively. In the pharma-medico viewpoint, PYT and its derivatives have been evident to have antimicrobial, cytotoxic, antitumorous, antimutagenic, anti-teratogenic, antibiotic-chemotherapeutic, antidiabetic, lipid lowering, antispasmodic, anticonvulsant, antinociceptive, antioxidant, anti-inflammatory, anxiolytic, antidepressant, immunoadjuvancy, hair growth facilitator, hair fall defense and antidandruff activities. Otherwise, the important biometebolite of PYT is phytanic acid (PA). Evidence shows PA to have cytotoxic, anticancer, antidiabetic, lipid lowering and aniteratogenic activities. In addition, it may be considered as an important biomarker for some diseases such as Refsum's Disease (RD), Sjögren Larsson syndrome (SLS), rhizomelic chondrodysplasia punctata (RZCP), chronic polyneuropathy (CP), Zellweger's disease hyperpipecolic academia (ZDHA) and related diseases. Thus, phytol may be considered as a new drug candidate. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Synergistic mutual potentiation of antifungal activity of Zuccagnia punctata Cav. and Larrea nitida Cav. extracts in clinical isolates of Candida albicans and Candida glabrata.

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Butassi, Estefanía; Svetaz, Laura A; Ivancovich, Juan J; Feresin, Gabriela E; Tapia, Alejandro; Zacchino, Susana A

2015-06-01

Zuccagnia punctata Cav. (Fabaceae) and Larrea nitida Cav. (Zygophyllaceae) are indistinctly or jointly used in traditional medicine for the treatment of fungal-related infections. Although their dichloromethane (DCM) extract have demonstrated moderate antifungal activities when tested on their own, antifungal properties of combinations of both plants have not been assessed previously. The aim of this study was to establish with statistical rigor whether Z. punctata (ZpE) and L. nitida DCM extract (LnE) interact synergistically against the clinically important fungi Candida albicans and Candida glabrata and to characterize the most synergistic combinations. For synergism assessment, the statistical-based Boik's design was applied. Eight ZpE-LnE fixed-ratio mixtures were prepared from four different months of 1 year and tested against Candida strains. Lϕ (Loewe index) of each mixture at different fractions affected (ϕ) allowed for the finding of the most synergistic combinations, which were characterized by HPLC fingerprint and by the quantitation of the selected marker compounds. Lϕ and confidence intervals were determined in vitro with the MixLow method, once the estimated parameters from the dose-response curves of independent extracts and mixtures, were obtained. Markers (four flavonoids for ZpE and three lignans for LnE) were quantified in each extract and their combinations, with a valid HPLC-UV method. The 3D-HPLC profiles of the most synergistic mixtures were obtained by HPLC-DAD. Three over four IC50ZpE/IC50LnE fixed-ratio mixtures displayed synergistic interactions at effect levels ϕ > 0.5 against C. albicans. The dosis of the most synergistic (Lϕ = 0.62) mixture was 65.96 µg/ml (ZpE = 28%; LnE = 72%) containing 8 and 36% of flavonoids and lignans respectively. On the other hand, one over four IC50ZpE/IC50LnE mixtures displays synergistic interactions at ϕ > 0.5 against C. glabrata. The dosis of the most synergistic (Lϕ = 0.67) mixture was 168

Personality in the cockroach Diploptera punctata: Evidence for stability across developmental stages despite age effects on boldness.

Science.gov (United States)

Stanley, Christina R; Mettke-Hofmann, Claudia; Preziosi, Richard F

2017-01-01

Despite a recent surge in the popularity of animal personality studies and their wide-ranging associations with various aspects of behavioural ecology, our understanding of the development of personality over ontogeny remains poorly understood. Stability over time is a central tenet of personality; ecological pressures experienced by an individual at different life stages may, however, vary considerably, which may have a significant effect on behavioural traits. Invertebrates often go through numerous discrete developmental stages and therefore provide a useful model for such research. Here we test for both differential consistency and age effects upon behavioural traits in the gregarious cockroach Diploptera punctata by testing the same behavioural traits in both juveniles and adults. In our sample, we find consistency in boldness, exploration and sociality within adults whilst only boldness was consistent in juveniles. Both boldness and exploration measures, representative of risk-taking behaviour, show significant consistency across discrete juvenile and adult stages. Age effects are, however, apparent in our data; juveniles are significantly bolder than adults, most likely due to differences in the ecological requirements of these life stages. Size also affects risk-taking behaviour since smaller adults are both bolder and more highly explorative. Whilst a behavioural syndrome linking boldness and exploration is evident in nymphs, this disappears by the adult stage, where links between other behavioural traits become apparent. Our results therefore indicate that differential consistency in personality can be maintained across life stages despite age effects on its magnitude, with links between some personality traits changing over ontogeny, demonstrating plasticity in behavioural syndromes.

Personality in the cockroach Diploptera punctata: Evidence for stability across developmental stages despite age effects on boldness

Science.gov (United States)

Mettke-Hofmann, Claudia; Preziosi, Richard F.

2017-01-01

Despite a recent surge in the popularity of animal personality studies and their wide-ranging associations with various aspects of behavioural ecology, our understanding of the development of personality over ontogeny remains poorly understood. Stability over time is a central tenet of personality; ecological pressures experienced by an individual at different life stages may, however, vary considerably, which may have a significant effect on behavioural traits. Invertebrates often go through numerous discrete developmental stages and therefore provide a useful model for such research. Here we test for both differential consistency and age effects upon behavioural traits in the gregarious cockroach Diploptera punctata by testing the same behavioural traits in both juveniles and adults. In our sample, we find consistency in boldness, exploration and sociality within adults whilst only boldness was consistent in juveniles. Both boldness and exploration measures, representative of risk-taking behaviour, show significant consistency across discrete juvenile and adult stages. Age effects are, however, apparent in our data; juveniles are significantly bolder than adults, most likely due to differences in the ecological requirements of these life stages. Size also affects risk-taking behaviour since smaller adults are both bolder and more highly explorative. Whilst a behavioural syndrome linking boldness and exploration is evident in nymphs, this disappears by the adult stage, where links between other behavioural traits become apparent. Our results therefore indicate that differential consistency in personality can be maintained across life stages despite age effects on its magnitude, with links between some personality traits changing over ontogeny, demonstrating plasticity in behavioural syndromes. PMID:28489864

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor

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Wood Paul L

2011-10-01

Full Text Available Abstract Background Childhood peroxisomal disorders and leukodystrophies are devastating diseases characterized by dysfunctional lipid metabolism. Plasmalogens (ether glycerophosphoethanolamine lipids are decreased in these genetic disorders. The biosynthesis of plasmalogens is initiated in peroxisomes but completed in the endoplasmic reticulum. We therefore undertook a study to evaluate the ability of a 3-substituted, 1-alkyl, 2-acyl glyceryl ether lipid (PPI-1011 to replace plasmalogens in rhizomelic chrondrodysplasia punctata type 1 (RCDP1 and rhizomelic chrondrodysplasia punctata type 2 (RCDP2 lymphocytes which possess peroxisomal mutations culminating in deficient plasmalogen synthesis. We also examined plasmalogen synthesis in Pelizaeus-Merzbacher disease (PMD lymphocytes which possess a proteolipid protein-1 (PLP1 missense mutation that results in abnormal PLP1 folding and it's accumulation in the endoplasmic reticulum (ER, the cellular site of the last steps in plasmalogen synthesis. In vivo incorporation of plasmalogen precursor into tissue plasmalogens was also evaluated in the Pex7 mouse model of plasmalogen deficiency. Results In both RCDP1 and RCDP2 lymphocytes, PPI-1011 repleted the target ethanolamine plasmalogen (PlsEtn16:0/22:6 in a concentration dependent manner. In addition, deacylation/reacylation reactions resulted in repletion of PlsEtn 16:0/20:4 in both RCDP1 and RCDP2 lymphocytes, repletion of PlsEtn 16:0/18:1 and PlsEtn 16:0/18:2 in RCDP2 lymphocytes, and partial repletion of PlsEtn 16:0/18:1 and PlsEtn 16:0/18:2 in RCDP1 lymphocytes. In the Pex7 mouse, oral dosing of labeled PPI-1011 demonstrated repletion of tissue levels of the target plasmalogen PlsEtn 16:0/22:6 with phospholipid remodeling also resulting in significant repletion of PlsEtn 16:0/20:4 and PlsEtn 16:0/18:1. Metabolic conversion of PPI-1011 to the target plasmalogen was most active in the liver. Conclusions Our data demonstrate that PPI-1011 is activated

Preliminary comparison of the uptake of chromium-51 and zinc-65 by three species of aquatic plants from Louisiana

International Nuclear Information System (INIS)

Sklar, F.H.

1980-01-01

Accumulation of radionuclides was much greater for duckweed (Spirodela punctata) than for larger aquatic plants of slower growth (Bacopa caroliniana and Elodea canadensis). Higher specific activity (dpm/gm) was recorded in leaves than in stems. Chromium-51 accumulation factors ranged from a low of 66 for stems of E. canadensis to a high of 436 for S. punctata fronds. Zinc-65 accumulation factors were much higher: 142 for stems of B. caroliniana and 18,118 for fronds of S. punctata. Significant reductions in zinc-65 activity in the water surrounding growing S. punctata was detected within 10 minutes

TM6SF2 and MAC30, new enzyme homologues in sterol metabolism and common metabolic disease.

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Luis eSanchez-Pulido

2014-12-01

Full Text Available Carriers of the Glu167Lys coding variant in the TM6SF2 gene have recently been identified as being more susceptible to non-alcoholic fatty liver disease (NAFLD, yet exhibit lower levels of circulating lipids and hence are protected against cardiovascular disease. Despite the physiological importance of these observations, the molecular function of TM6SF2 remains unknown, and no sequence similarity with functionally characterised proteins has been identified. In order to trace its evolutionary history and to identify functional domains, we embarked on a computational protein sequence analysis of TM6SF2. We identified a new domain, the EXPERA domain, which is conserved among TM6SF, MAC30/TMEM97 and EBP (D8,D7 sterol isomerase protein families. EBP mutations are the cause of chondrodysplasia punctata 2 X-linked dominant (CDPX2, also known as Conradi-Hünermann-Happle syndrome, a defective cholesterol biosynthesis disorder. Our analysis of evolutionary conservation among EXPERA domain-containing families and the previously suggested catalytic mechanism for the EBP enzyme, indicate that TM6SF and MAC30/TMEM97 families are both highly likely to possess, as for the EBP family, catalytic activity as sterol isomerases. This unexpected prediction of enzymatic functions for TM6SF and MAC30/TMEM97 is important because it now permits detailed experiments to investigate the function of these key proteins in various human pathologies, from cardiovascular disease to cancer.

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Science.gov (United States)

Amasdl, Saadia; Smaili, Wiam; Natiq, Abdelhafid; Hassani, Amale; Sbiti, Aziza; Agadr, Aomar; Sanlaville, Damien; Sefiani, Abdelaziz

2017-01-01

Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes. © 2017 S. Karger AG, Basel.

Microsatellite primers in the white proteas (Protea section Exsertae, Proteaceae), a rapidly radiating lineage.

Science.gov (United States)

Prunier, Rachel; Latimer, Andrew

2010-01-01

Microsatellite primers were developed in the South African sclerophyllous shrub Protea punctata to investigate the degree of population differentiation within and between P. punctata and closely related species. • 10 primer pairs were identified from three individuals of Protea punctata. The primers amplified di- and tri-nucleotide repeats. Across all P. punctata samples, the loci have 8-49 alleles. All primers also amplified in Protea section Exsertae (P. aurea, P. aurea subsp. potbergensis, P. mundii, P. venusta, P. lacticolor, and P. subvestita). The loci had 14-69 alleles across the subgenus. • These results show the broad utility of microsatellite loci for future studies of population genetics in the white proteas and their potential utility across the entire genus.

Carbon isotope chemostratigraphy and precise dating of middle Frasnian (lower Upper Devonian) Alamo Breccia, Nevada, USA

Science.gov (United States)

Morrow, J.R.; Sandberg, C.A.; Malkowski, K.; Joachimski, M.M.

2009-01-01

At Hancock Summit West, Nevada, western USA, uppermost Givetian (upper Middle Devonian) and lower and middle Frasnian (lower Upper Devonian) rocks of the lower Guilmette Formation include, in stratigraphic sequence, carbonate-platform facies of the conodont falsiovalis, transitans, and punctata Zones; the type Alamo Breccia Member of the middle punctata Zone; and slope facies of the punctata and hassi Zones. The catastrophically deposited Alamo Breccia and related phenomena record the ~ 382??Ma Alamo event, produced by a km-scale bolide impact into a marine setting seaward of an extensive carbonate platform fringing western North America. Re-evaluation of conodonts from the lower Guilmette Formation and Alamo Breccia Member, together with regional sedimentologic and conodont biofacies comparisons, now firmly locates the onset of the Johnson et al. (1985) transgressive-regressive (T-R) cycle IIc, which occurred after the start of the punctata Zone, within a parautochthonous megablock low in the Alamo Breccia. Whole-rock carbon isotope analyses through the lower Guilmette Formation and Alamo Breccia Member reveal two positive ??13Ccarb excursions: (1) a small, 3??? excursion, which is possibly correlative with the falsiovalis Event previously identified from sections in Western Europe and Australia, occurs below the breccia in the Upper falsiovalis Zone to early part of the transitans Zone; and (2) a large, multi-part excursion, dominated by a 6??? positive shift, begins above the start of the punctata Zone and onset of T-R cycle IIc and continues above the Alamo Breccia, ending near the punctata- hassi zonal boundary. This large excursion correlates with the punctata Event, a major positive ??13C excursion previously recognized in eastern Laurussia and northern Gondwana. Consistent with previous studies, at Hancock Summit West the punctata Event is apparently not associated with any regional extinctions or ecosystem reorganizations. In the study area, onset of the

[The investigation of genomes of some species of the genus Gentiana in nature and in vitro cell culture].

Science.gov (United States)

Mel'nyk, V M; Spiridonova, K V; Andrieiev, I O; Strashniuk, N M; Kunakh, V A

2002-01-01

The comparative study of the genomes of intact plants-representatives of some species of the genus Gentiana L. as well as cultured cells of G. lutea and G. punctata was performed using restriction analysis. Species specificity of restriction fragment patterns for studied representatives of this genus was revealed. The differences between electrophoretic patterns of digested DNA purified from rhizome and leaves of G. lutea and G. punctata were found. The changes in genomes of G. lutea and G. punctata cells cultured in vitro compared with the genomes of intact plants were detected. The data obtained evidence that some of them may be of nonrandom character.

Botanical indices of ploidy levels in some African accessions of ...

African Journals Online (AJOL)

Twenty-nine accessions of Oryza punctata Kotschy ex Steud, from local and other African habitats were studied to establish the attributes that can delineate the two ploidy levels based on agro-botanical, foliar epidermal and nodal anatomical characteristics. The diploid plants of O. punctata are early-maturing annuals with a ...

Uniconazole-induced starch accumulation in the bioenergy crop duckweed (Landoltia punctata) I: transcriptome analysis of the effects of uniconazole on chlorophyll and endogenous hormone biosynthesis.

Science.gov (United States)

Liu, Yang; Fang, Yang; Huang, Mengjun; Jin, Yanling; Sun, Jiaolong; Tao, Xiang; Zhang, Guohua; He, Kaize; Zhao, Yun; Zhao, Hai

2015-01-01

Duckweed is a novel aquatic bioenergy crop that is found ubiquitously throughout the world. Uniconazole plays an important role in improving crop production through the regulation of endogenous hormone levels. We found that a high quantity and quality of duckweed growth can be achieved by uniconazole application, although the mechanisms are unknown. The fronds of Landoltia punctata were sprayed evenly with 800 mg/L uniconazole. The dry weight following treatment increased by 10% compared to the controls at 240 h. Endogenous cytokinin (CK) and abscisic acid (ABA) content both increased compared to the control, while the level of gibberellins (GAs) decreased. Additionally, gene expression profiling results showed that the expression of transcripts encoding key enzymes involved in endogenous CK and ABA biosynthesis were up-regulated, while the transcripts of key enzymes for GAs biosynthesis were down-regulated. On the other hand, chlorophyll a and chlorophyll b contents were both increased compared with the control. Moreover, the net photosynthetic rate was elevated to 25.6 μmol CO2/m(2)/s compared with the control value of 22.05 μmol CO2/m(2)/s. Importantly, the expression of some chlorophyll biosynthesis-related transcripts was up-regulated. Uniconazole treatment altered endogenous hormone levels and enhanced chlorophyll content and net photosynthetic rate in duckweed by regulating key enzymes involved in endogenous hormone and chlorophyll biosynthesis. The alterations of endogenous hormones and the increase of chlorophyll and photosynthetic rate data support the increase of biomass and starch accumulation.

Drosophila Courtship Conditioning As a Measure of Learning and Memory.

Science.gov (United States)

Koemans, Tom S; Oppitz, Cornelia; Donders, Rogier A T; van Bokhoven, Hans; Schenck, Annette; Keleman, Krystyna; Kramer, Jamie M

2017-06-05

Many insights into the molecular mechanisms underlying learning and memory have been elucidated through the use of simple behavioral assays in model organisms such as the fruit fly, Drosophila melanogaster. Drosophila is useful for understanding the basic neurobiology underlying cognitive deficits resulting from mutations in genes associated with human cognitive disorders, such as intellectual disability (ID) and autism. This work describes a methodology for testing learning and memory using a classic paradigm in Drosophila known as courtship conditioning. Male flies court females using a distinct pattern of easily recognizable behaviors. Premated females are not receptive to mating and will reject the male's copulation attempts. In response to this rejection, male flies reduce their courtship behavior. This learned reduction in courtship behavior is measured over time, serving as an indicator of learning and memory. The basic numerical output of this assay is the courtship index (CI), which is defined as the percentage of time that a male spends courting during a 10 min interval. The learning index (LI) is the relative reduction of CI in flies that have been exposed to a premated female compared to naïve flies with no previous social encounters. For the statistical comparison of LIs between genotypes, a randomization test with bootstrapping is used. To illustrate how the assay can be used to address the role of a gene relating to learning and memory, the pan-neuronal knockdown of Dihydroxyacetone phosphate acyltransferase (Dhap-at) was characterized here. The human ortholog of Dhap-at, glyceronephosphate O-acyltransferase (GNPT), is involved in rhizomelic chondrodysplasia punctata type 2, an autosomal-recessive syndrome characterized by severe ID. Using the courtship conditioning assay, it was determined that Dhap-at is required for long-term memory, but not for short-term memory. This result serves as a basis for further investigation of the underlying molecular

Determination of Botanical Origin of Propolis from Monte Region of Argentina by Histological and Chemical Methods.

Science.gov (United States)

Salasa, Ana; Mercadoc, María I; Zampini, Iris C; Ponessa, Graciela I; Isla, María I

2016-05-01

Propolis production by honey bees is the result of a selective harvest of exudates from plants in the neighborhood of the hive. This product is used in Argentina as a food supplement and alternative medicine. The aim of this study was to determine the botanical origin of propolis from the arid regions of Monte of Argentina using rapid histochemical techniques and by comparison of TLC and HPLC-DAD chromatographic profiles with extract profiles obtained from Zuccagnia punctata, Larrea divaricata and Larrea cuneifolia, plant species that grow in the study area as a natural community named "jarillal". Microscopical analysis revealed the presence of several Z. punctata structures, such as multicellular trichomes, leaflets, stems and young leaves. Remarkable was the richness of the propolis in two bioactive chalcones, also present in Z. punctata resin; these compounds can be regarded as possible markers for propolis identification and justify its use as a dietary supplement, functional food and medicinal product. This study indicates that the source of resin used by honey bees to produce propolis in the Monte region of Argentina is only Z. punctata, a native shrub widespread in this phytogeographical region, while other more abundant species (L. divaricata and L. cuneifolia) in the region were not found, indicating that this propolis could be defined as a mono-resin, type-Zuccagnia.

Frequency and intensity of infection by helminths in cattle slaughtered at the abattior, of the northwest of region state of São Paulo, Brazil/ Freqüência e intensidade parasitária de helmintos gastrintestinais em bovinos abatidos em frigorífico da região noroeste do Estado de São Paulo, SP, Brasil

Directory of Open Access Journals (Sweden)

Luis Gustavo Ferraz Lima

2001-08-01

Full Text Available Parasitary gastrointestinal helminths frequency and intensity were studied in 48 female bovines, with different zebu and taurine crossbreeding degrees, ages ranging between 24 and 30 months, from eight counties in the Northwest of São Paulo State, slaughtered at Frigorífico Montenegro, Araçatuba, São Paulo (Brazil and four animals were monthly necropsied over one year. The identified gastrointestinal helminth species were: Cooperia punctata, Cooperia pectinata, Haemonchus similis, Haemonchus placei and Oesophagostomum radiatum. Among the 48 animals, 21 (43,8% were carrying Haemonchus spp. The Haemonchus similis and the Haemonchus placei species were identified isolated at an equivalent rate (10,4%, being simultaneous infection registered in 22,9% of the cases. In small intestine, 26 bovines (54,2% showed Cooperia punctata. Ten male Cooperia pectinata were identified in only one bovine that also carried 310 Cooperia punctata. In the large intestine, 20 bovines (41,7% showed Oesophagostomum radiatum. Mixed infections occurred in 52,1% of the animals, simple infections in 12%, and 22,9% of the bovines did not have gastrointestinal helminths.A freqüência e a intensidade parasitária de helmintos gastrintestinais foram estudadas em 48 bovinos, fêmeas, com diferentes graus de cruzamento de raças zebuínas e taurinas, de faixa etária entre 24 a 30 meses, provenientes de oito municípios da região noroeste do Estado de São Paulo e abatidos no Frigorífico Montenegro, Araçatuba, SP, sacrificando-se quatro animais mensalmente, ao longo de um ano. As espécies de helmintos identificadas foram: Cooperia punctata, Cooperia pectinata, Haemonchus similis, Haemonchus placei e Oesophagostomum radiatum. Dos animais examinados, 21 (43,8% estavam parasitados por Haemonchus spp. As espécies H. similis e H. placei foram identificadas isoladamente em igual proporção (10,4% em dez bovinos, sendo que a infecção simultânea foi registrada em outros 11

Disease: H00445 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00445 Osteoarthritis with mild chondrodysplasia The disease is characterized by a...m D, Ferguson R, Moskowitz R ... TITLE ... Osteoarthritis in children associated with a mutation in the type I

New type of lethal short-limbed dwarfism

Energy Technology Data Exchange (ETDEWEB)

Nairn, E.R.; Chapman, S.

1989-05-01

Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification with cartilage. The features resemble one case previously described in the literature.

[Chromosome variability in the tissue culture of rare Gentiana species].

Science.gov (United States)

Tvardovs'ka, M O; Strashniuk, N M; Mel'nyk, V M; Adonin, V I; Kunakh, V A

2008-01-01

Cytogenetic analysis of plants and tissue culture of Gentiana lutea, G. punctata, G. acaulis has been carried out. Culturing in vitro was found to result in the changes of chromosome number in the calluses of the species involved. Species specificity for variation of the cultured cell genomes was shown. Contribution of the original plant genotypes to the cytogenetic structure of the tissue culture was established. Gentiana callus tissues (except for in vitro culture of G. punctata, derived from plant of Breskul'ska population) were found to exhibit modal class with the cells of diploid and nearly diploid chromosome sets.

The marine leech Stibarobdella loricata (Harding, 1924 (Hirudinea, Piscicolidae, parasitic on the angel shark Squatina spp. and sandtiger shark Carcharias taurus Rafinesque, 1810 (Chondrichthyes: Squatinidae, Carchariidae in Southern Brazilian waters

Directory of Open Access Journals (Sweden)

Soto J. M. R.

2003-01-01

Full Text Available The presence of the marine leech, Stibarobdella loricata (Harding, 1924 (Hirudinea, Piscicolidae, is reported on the southern coast of Brazil, based on seven lots with 47 specimens, between 71 and 182 mm in total length, collected on the dorsal region of angel sharks, Squatina argentina (Marini, 1930; S. guggenheim Marini, 1936; S. punctata Marini, 1936 (Chondrichthyes, Squatinidae; and on the head of a sandtiger shark, Carcharias taurus Rafinesque, 1810 (Chondrichthyes, Carchariidae. This is the first record of S. loricata in the western Atlantic and of its parasitic association with S. argentina, S. guggenheim, S. punctata, and C. taurus.

A new type of lethal short-limbed dwarfism

International Nuclear Information System (INIS)

Nairn, E.R.; Chapman, S.

1989-01-01

Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification with cartilage. The features resemble one case previously described in the literature. (orig.)

A taxonomic study of the beetle cockroaches (Diploptera Saussure) from China, with notes on the genus and species worldwide (Blattodea: Blaberidae: Diplopterinae).

Science.gov (United States)

Li, Xinran; Wang, Zongqing

2015-09-14

Four taxa of beetle cockroaches (Diploptera Saussure, 1864) from South China are described and illustrated, viz., two new species D. elliptica sp. n. and D. naevus sp. n., one new subspecies D. nigrescens guani subsp. n. and one widespread known species D. punctata (Eschscholtz, 1822). The genus and known species from around the world are discussed based on types and other specimens. D. pulchra Anisyutkin, 2007 is now regarded as a junior synonym of D. bicolor Hanitsch, 1925. Whether the populations of D. punctata represent or not different species needs to be studied in the future. A key, a distribution map, and photos of species are provided.

Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.

NARCIS (Netherlands)

Bocca, G.; Weemaes, C.M.R.; Burgt, C.J.A.M. van der; Otten, B.J.

2004-01-01

Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by metaphyseal chondrodysplasia with severe growth retardation and impaired immunity. We studied the effects of growth hormone treatment on growth parameters and the immune system in four children with CHH. The

CCN2/CTGF is required for matrix organization and to protect growth plate chondrocytes from cellular stress.

Science.gov (United States)

Hall-Glenn, Faith; Aivazi, Armen; Akopyan, Lusi; Ong, Jessica R; Baxter, Ruth R; Benya, Paul D; Goldschmeding, Roel; van Nieuwenhoven, Frans A; Hunziker, Ernst B; Lyons, Karen M

2013-08-01

CCN2 (connective tissue growth factor (CTGF/CCN2)) is a matricellular protein that utilizes integrins to regulate cell proliferation, migration and survival. The loss of CCN2 leads to perinatal lethality resulting from a severe chondrodysplasia. Upon closer inspection of Ccn2 mutant mice, we observed defects in extracellular matrix (ECM) organization and hypothesized that the severe chondrodysplasia caused by loss of CCN2 might be associated with defective chondrocyte survival. Ccn2 mutant growth plate chondrocytes exhibited enlarged endoplasmic reticula (ER), suggesting cellular stress. Immunofluorescence analysis confirmed elevated stress in Ccn2 mutants, with reduced stress observed in Ccn2 overexpressing transgenic mice. In vitro studies revealed that Ccn2 is a stress responsive gene in chondrocytes. The elevated stress observed in Ccn2-/- chondrocytes is direct and mediated in part through integrin α5. The expression of the survival marker NFκB and components of the autophagy pathway were decreased in Ccn2 mutant growth plates, suggesting that CCN2 may be involved in mediating chondrocyte survival. These data demonstrate that absence of a matricellular protein can result in increased cellular stress and highlight a novel protective role for CCN2 in chondrocyte survival. The severe chondrodysplasia caused by the loss of CCN2 may be due to increased chondrocyte stress and defective activation of autophagy pathways, leading to decreased cellular survival. These effects may be mediated through nuclear factor κB (NFκB) as part of a CCN2/integrin/NFκB signaling cascade.

Unusual metaphyseal disturbance in two kittens

International Nuclear Information System (INIS)

Gunn-Moore, D.A.; Hagard, G.; Turner, C.; Duncan, A.W.; Barr, F.J.

1996-01-01

This report describes the presenting features, radiographic changes, biochemical alterations and clinical progress of two kittens, from separate litters, which were found to have a growth plate disturbance initially diagnosed and treated as vitamin D3-dependent rickets, but subsequently suspected to be a metaphyseal chondrodysplasia

Disease: H01404 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01404 Punctate palmoplantar keratoderma (PPKP), including: Brauer-Buschke-Fischer disease; Porokeratosis...ypes; PPKP1 (Brauer-Buschke-Fischer disease), PPKP2 (porokeratosis punctata palmaris et plantaris), and PPKP

Uptake and partitioning of zinc in Lemnaceae.

Science.gov (United States)

Lahive, Elma; O'Callaghan, Michael J A; Jansen, Marcel A K; O'Halloran, John

2011-11-01

Macrophytes provide food and shelter for aquatic invertebrates and fish, while also acting as reservoirs for nutrients and trace elements. Zinc accumulation has been reported for various Lemnaceae species. However, comparative accumulation across species and the link between zinc accumulation and toxicity are poorly understood. Morphological distribution and cellular storage, in either bound or soluble form, are important for zinc tolerance. This study shows differences in the uptake and accumulation of zinc by three duckweed species. Landoltia punctata and Lemna minor generally accumulated more zinc than Lemna gibba. L. minor, but not L. gibba or L. punctata, accumulated greater concentrations of zinc in roots compared to fronds when exposed to high levels of zinc. The proportion of zinc stored in the bound form relative to the soluble-form was higher in L. minor. L. punctata accumulated greater concentrations of zinc in fronds compared to roots and increased the proportion of zinc it stored in the soluble form, when exposed to high zinc levels. L. gibba is the only species that significantly accumulated zinc at low concentrations, and was zinc-sensitive. Overall, internal zinc concentrations showed no consistent correlation with toxic effect. We conclude that relationships between zinc toxicity and uptake and accumulation are species specific reflecting, among others, zinc distribution and storage. Differences in zinc distribution and storage are also likely to have implications for zinc bioavailability and trophic mobility.

Disease: H00508 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00508 Blomstrand syndrome; Blomstrand chondrodysplasia Blomstrand syndrome is a l...rd E, Cortes D, Lemainque A, Julier C ... TITLE ... Recessive mutations in PTHR1 cause contrasting skeletal dy...splasias in Eiken and Blomstrand syndromes. ... JOURNAL ... Hum Mol Genet 14:1-5 (2005) DOI:10.1093/hmg/ddi001

Effects of pH, initial Pb2+ concentration, and polyculture on lead remediation by three duckweed species.

Science.gov (United States)

Tang, Jie; Chen, Chunxia; Chen, Lei; Daroch, Maurycy; Cui, Yan

2017-10-01

Various geographical duckweed isolates have been developed for phytoremediation of lead. The Pb 2+ removal efficiency of Lemna aequinoctialis, Landoltia punctata, and Spirodela polyrhiza was investigated in monoculture and polyculture at different levels of pH and initial Pb 2+ concentrations. L. aequinoctialis was not sensitive to the tested pH but significantly affected by initial Pb 2+ concentration, whereas synergistic effect of pH and initial Pb 2+ concentration on removal efficiency of L. punctata and S. polyrhiza was found. Although the majority of polycultures showed median removal efficiency as compared to respective monocultures, some of the polycultures achieved higher Pb 2+ removal efficiencies and can promote population to remove Pb 2+ . Besides, the three duckweed strains could be potential candidates for Pb 2+ remediation as compared to previous reports. Conclusively, this study provides useful references for future large-scale duckweed phytoremediation.

Ellis–Van Creveld syndrome in siblings: A rare case report

Directory of Open Access Journals (Sweden)

Sabitha Gokulraj

2016-01-01

Full Text Available Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

The South American Mailed Catfishes of the genus Pseudoloricaria Bleeker, 1862 (Pisces, Siluriformes, Loricariidae)

NARCIS (Netherlands)

Isbrücker, I.J.H.; Nijssen, H.

1976-01-01

Two species of South American Mailed Catfishes of the genus Pseudoloricaria Bleeker, 1862 are redescribed and figured from type-specimens and additional material: Pseudoloricaria laeviuscula (Valenciennes, 1840), and Pseudoloricaria punctata (Regan, 1904). Since the provenance of the holotype of P.

Phylogenetic relationships in genus Gloriosa L. | Maroyi | African ...

African Journals Online (AJOL)

In an attempt to test the monophyly of the genus Gloriosa L., the chloroplast region trnL-trnF sequences were employed using Baeometra uniflora, Hexacyrtis dickiana, Neodregea glassii, Onixotis punctata, Onixotis stricta, Ornithoglossum parviflorum, Ornithoglossum undulatum, Ornithoglossum viride, Ornithoglossum ...

Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

OpenAIRE

Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

2015-01-01

Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and l...

The osmoregulatory ability of three grapsoid crab species in relation ...

African Journals Online (AJOL)

The osmoregulatory abilities of the grapsoid crabs Cyclograpsus punctata, Sesarma catenata and Sesarma eulimene were studied comparatively in an attempt to explain, at least in part, their distribution in estuaries. Both survival and haemorymph osmotic pressure were used as indices of hyperosmotic regulatory ability.

Fetal MR imaging of Kniest dysplasia

International Nuclear Information System (INIS)

Yazici, Zeynep; Kline-Fath, Beth M.; Laor, Tal; Tinkle, Bradley T.

2010-01-01

We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

Dwarfism and gigantism in historical picture postcards.

OpenAIRE

Enderle, A

1998-01-01

A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary dwarfism and...

Fetal MR imaging of Kniest dysplasia

Energy Technology Data Exchange (ETDEWEB)

Yazici, Zeynep [Uludag University, Faculty of Medicine, Department of Radiology, Gorukle (Turkey); Kline-Fath, Beth M.; Laor, Tal [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Tinkle, Bradley T. [Cincinnati Children' s Hospital Medical Center, Division of Human Genetics, Cincinnati, OH (United States)

2010-03-15

We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

Usher syndrome type III can mimic other types of Usher syndrome.

NARCIS (Netherlands)

Pennings, R.J.E.; Fields, R.R.; Huygen, P.L.M.; Deutman, A.F.; Kimberling, W.J.; Cremers, C.W.R.J.

2003-01-01

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata

Site records of softshell turtles (Chelonia: Trionychidae from Barak Valley, Assam, northeastern India

Directory of Open Access Journals (Sweden)

K.C. Das

2011-04-01

Full Text Available We report for the first time the occurrence of four species of Trionychid turtles Nilssonia gangetica, N. hurum, Chitra indica and Lissemys punctata andersonii from 57 sites in the Barak Valley region of Assam, northeastern India. Sites of occurrence include rivers, small streams, floodplain lakes and ox-bows.

(Ortmann) (Decapoda, Crustacea)

African Journals Online (AJOL)

1987-03-13

Mar 13, 1987 ... duration and current velocity) of the populations to the flow of water ... The mud prawn Upogebia africana (Ortmann) is a filter ... three sources namely, treated sewage released into the ... indicating the positions of the sampling sites for macrobenthos (1 - 40) ..... punctata feeding on a variety of marine algae.

Espécies novas e chave para as espécies de Callia (Coleoptera, Cerambycidae

Directory of Open Access Journals (Sweden)

Galileo Maria Helena M.

2002-01-01

Full Text Available New species described: Callia marginata from Peru, C. punctata from Colombia, C. annulata from Ecuador, C. tristis from Bolivia, C. paraguaya from Paraguay; from Brazil: C. divisa and C. tomentosa (Mato Grosso, and C. lissonota (Rondônia. A key to the species of Callia is added.

Den molekylaergenetiske baggrund for en raekke arvelige kraniosynostoser og kondrodysplasier

DEFF Research Database (Denmark)

Hertz, Jens Michael; juncker, Inger; Christensen, L

2001-01-01

Fibroblast growth factors are structurally related proteins associated with cell growth, differentiation, migration, wound healing, angiogenesis, and oncogenesis. At the cellular level, their function is mediated by transmembrane tyrosinekinase receptors, fibroblast growth factor receptors. Four ......, ACS. The same mutation can cause different syndromes, and the same syndrome can be caused by mutations in different genes. The chondrodysplasias: achondroplasia, hypochondroplasia, and thanatophoric dysplasia are all caused by mutations in FGFR3....

Approach to Investigating Congenital Skeletal Abnormalities in Livestock.

Science.gov (United States)

Dittmer, K E; Thompson, K G

2015-09-01

Congenital skeletal abnormalities may be genetic, teratogenic, or nutritional in origin; distinguishing among these different causes is essential in the management of the disease but may be challenging. In some cases, teratogenic or nutritional causes of skeletal abnormalities may appear very similar to genetic causes. For example, chondrodysplasia associated with intrauterine zinc or manganese deficiency and mild forms of hereditary chondrodysplasia have very similar clinical features and histologic lesions. Therefore, historical data are essential in any attempt to distinguish genetic and acquired causes of skeletal lesions; as many animals as possible should be examined; and samples should be collected for future analysis, such as genetic testing. Acquired causes of defects often show substantial variation in presentation and may improve with time, while genetic causes frequently have a consistent presentation. If a disease is determined to be of genetic origin, a number of approaches may be used to detect mutations, each with advantages and disadvantages. These approaches include sequencing candidate genes, single-nucleotide polymorphism array with genomewide association studies, and exome or whole genome sequencing. Despite advances in technology and increased cost-effectiveness of these techniques, a good clinical history and description of the pathology and a reliable diagnosis are still key components of any investigation. © The Author(s) 2015.

Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism

OpenAIRE

Mullan, Lorna; Mularczyk, Ewa; Kung, Louise; Forouhan, Mitra; Wragg, Jordan; Goodacre, Royston; Bateman, John F.; Swanton, Eileithyia; Briggs, Michael; Boot-Handford, Raymond

2017-01-01

The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in hum...

Disease: H00505 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00505 FGFR3-related short limb skeletal dysplasias, including: Achondroplasia [DS...:H01749]; Hypochondroplasia; Thanatophoric dysplasia [DS:H01750]; Severe achondroplasia with developmental d...elay and acanthosis nigricans (SADDAN) FGFR3-related short limb skeletal dysplasias are a group of dwarfisms...tions by disrupting endochondral bone growth. Skeletal dysplasia FGFR3 [HSA:2261] [KO:K05094] ... ICD-10: ...HORS ... Cohen MM Jr ... TITLE ... Some chondrodysplasias with short limbs: molecular

Ellis-van Creveld syndrome in an Indian child: a case report

OpenAIRE

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-01-01

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congeni...

Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

International Nuclear Information System (INIS)

Berrocal, T.; Simon, M.J.; Al-Assir, I.; Prieto, C.; Pastor, I.; Pablo, L. de; Lama, R.

1995-01-01

Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ''cup'' deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects

International Nuclear Information System (INIS)

Berrocal, T.; Simon, M.J.; Al-Assir, I.; Prieto, C.; Pastor, I.; Pablo, L. de; Lama, R.

1995-01-01

Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease which is characterized by metaphyseal chondrodysplasia, neutropenia and pancreatic exocrine insufficiency. It presents with variable extremity shortening, ''cup'' deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, and increased echogenicity of the pancreas without change in size. We discuss the differential diagnosis and review the literature. (orig.)

Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

Energy Technology Data Exchange (ETDEWEB)

Berrocal, T. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Simon, M.J. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Al-Assir, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Prieto, C. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pastor, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pablo, L. de [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Lama, R. [Servicio de Gastroenterologia, Hospital Infantil `La Paz`, Madrid (Spain)

1995-07-01

Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ``cup`` deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects

Energy Technology Data Exchange (ETDEWEB)

Berrocal, T. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Simon, M.J. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Al-Assir, I. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Prieto, C. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Pastor, I. [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Pablo, L. de [Dept. of Pediatric Radiology, `La Paz` Children`s Hospital, Madrid (Spain); Lama, R. [Dept. of Gastroenterology, `La Paz` Children`s Hospital, Madrid (Spain)

1995-06-01

Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease which is characterized by metaphyseal chondrodysplasia, neutropenia and pancreatic exocrine insufficiency. It presents with variable extremity shortening, ``cup`` deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, and increased echogenicity of the pancreas without change in size. We discuss the differential diagnosis and review the literature. (orig.)

Bioassay-Guided Investigation of Two Monarda Essential Oils as Repellents of Yellow Fever Mosquito Aedes aegypti

Science.gov (United States)

2013-08-06

suppressed the postprandial elevation of blood triacylglycerol concentrations in mice in vivo; however, five other monoterpene glycosides that were isolated...components, leading to the isolation of compounds with mosquito repellent activity, but without any cytotoxicity. The monoterpene hydrocarbon p-cymene...Kobayashi, K.; Miyase, T.; Yoshizaki, F. A lipase inhibitor monoterpene and monoterpene glycosides from Monarda punctata. Phytochemistry 2010, 71, 1884

Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function.

Directory of Open Access Journals (Sweden)

Kwok Yeung Tsang

2007-03-01

Full Text Available In protein folding and secretion disorders, activation of endoplasmic reticulum (ER stress signaling (ERSS protects cells, alleviating stress that would otherwise trigger apoptosis. Whether the stress-surviving cells resume normal function is not known. We studied the in vivo impact of ER stress in terminally differentiating hypertrophic chondrocytes (HCs during endochondral bone formation. In transgenic mice expressing mutant collagen X as a consequence of a 13-base pair deletion in Col10a1 (13del, misfolded alpha1(X chains accumulate in HCs and elicit ERSS. Histological and gene expression analyses showed that these chondrocytes survived ER stress, but terminal differentiation is interrupted, and endochondral bone formation is delayed, producing a chondrodysplasia phenotype. This altered differentiation involves cell-cycle re-entry, the re-expression of genes characteristic of a prehypertrophic-like state, and is cell-autonomous. Concomitantly, expression of Col10a1 and 13del mRNAs are reduced, and ER stress is alleviated. ERSS, abnormal chondrocyte differentiation, and altered growth plate architecture also occur in mice expressing mutant collagen II and aggrecan. Alteration of the differentiation program in chondrocytes expressing unfolded or misfolded proteins may be part of an adaptive response that facilitates survival and recovery from the ensuing ER stress. However, the altered differentiation disrupts the highly coordinated events of endochondral ossification culminating in chondrodysplasia.

Neutral sphingomyelinase (SMPD3) deficiency disrupts the Golgi secretory pathway and causes growth inhibition

Science.gov (United States)

Stoffel, Wilhelm; Hammels, Ina; Jenke, Bitta; Binczek, Erika; Schmidt-Soltau, Inga; Brodesser, Susanne; Schauss, Astrid; Etich, Julia; Heilig, Juliane; Zaucke, Frank

2016-01-01

Systemic loss of neutral sphingomyelinase (SMPD3) in mice leads to a novel form of systemic, juvenile hypoplasia (dwarfism). SMPD3 deficiency in mainly two growth regulating cell types contributes to the phenotype, in chondrocytes of skeletal growth zones to skeletal malformation and chondrodysplasia, and in hypothalamic neurosecretory neurons to systemic hypothalamus–pituitary–somatotropic hypoplasia. The unbiased smpd3−/− mouse mutant and derived smpd3−/− primary chondrocytes were instrumental in defining the enigmatic role underlying the systemic and cell autonomous role of SMPD3 in the Golgi compartment. Here we describe the unprecedented role of SMPD3. SMPD3 deficiency disrupts homeostasis of sphingomyelin (SM), ceramide (Cer) and diacylglycerol (DAG) in the Golgi SMPD3-SMS1 (SM-synthase1) cycle. Cer and DAG, two fusogenic intermediates, modify the membrane lipid bilayer for the initiation of vesicle formation and transport. Dysproteostasis, unfolded protein response, endoplasmic reticulum stress and apoptosis perturb the Golgi secretory pathway in the smpd3−/− mouse. Secretion of extracellular matrix proteins is arrested in chondrocytes and causes skeletal malformation and chondrodysplasia. Similarly, retarded secretion of proteo-hormones in hypothalamic neurosecretory neurons leads to hypothalamus induced combined pituitary hormone deficiency. SMPD3 in the regulation of the protein vesicular secretory pathway may become a diagnostic target in the etiology of unknown forms of juvenile growth and developmental inhibition. PMID:27882938

Mechanism of Ras Activation by TGFBeta

Science.gov (United States)

2002-07-01

Laboratories Inc., South San Francisco , CA) were then added to reactions. The reactions were incubated at room temperature for 45-60 min, stopped by addition...phTG5 construct, H. F. Lodish (MIT, Cambridge, MA) for the CCL64-Smad3C cells, R. Derynck (Uni- versity of California, San Francisco , CA) for the DN...819. Thomas, J. T., Lin, K., Nandedkar, M.. Camargo . M., Cervenka, J., & Luytcn, F. P. A. (1996). Human chondrodysplasia due to a mutation in a TGF

Two functionally different muscle fibre types in some salps?

Directory of Open Access Journals (Sweden)

Q. Bone

1998-12-01

Full Text Available This paper describes the structure and operation of the fibres in the locomotor muscle bands of several salp species. In many species, for example Thalia democratica or Pegea confoederata, all the muscle fibres of the locomotor muscle bands are similar in width and structure. In others, for example Salpa fusiformis and S. maxima, although fibre structure is similar, the marginal fibres edging the bands may be some 3-4 times the width of those in the centre of the band. In Ihlea punctata, not only is there a more striking difference in width between the marginal and central fibres of the bands, but also the two differ in structure. The marginal fibres are up to 10 times the width of the central fibres and the two differ in myofibrillar and mitochondrial content. Intracellular recordings from the fibres show that the normally compound spike potentials do not overshoot resting potentials (up to -70 mV, and are decremental. The two types of fibre may be separately activated. It is suggested that in Ihlea punctata, the wide marginal fibres may be involved in slow swimming, the central narrow fibres in `escape´ swimming.

Cubozoa e Scyphozoa (Cnidaria: Medusozoa de águas costeiras do Brasil Cubozoa and Scyphozoa (Cnidaria: Medusozoa from Brazilian coastal waters

Directory of Open Access Journals (Sweden)

André C. Morandini

2005-09-01

Full Text Available As espécies de Cubozoa e Scyphozoa costeiras que ocorrem no Brasil são descritas, com base em espécimes de coleções de museus e exemplares recém-coletados. Chaves de identificação e um glossário também são apresentados. As espécies descritas são: Aurelia sp.; Cassiopea xamachana Bigelow, 1892; Chiropsalmus quadrumanus (Müller, 1859; Chrysaora lactea Eschscholtz, 1829; Drymonema dalmatinum Haeckel, 1880; Linuche unguiculata (Swartz, 1788; Lychnorhiza lucerna Haeckel, 1880; Nausithoe aurea Silveira & Morandini, 1997; Phyllorhiza punctata von Lendenfeld, 1884; Stomolophus meleagris Agassiz, 1862; Tamoya haplonema Müller, 1859 e Tripedalia cystophora Conant, 1897.Coastal species of Cubozoa and Scyphozoa occurring in Brazil are described, based on museum specimens and recently collected ones. Identification keys and a glossary are also presented. The listed species are: Aurelia sp.; Cassiopea xamachana Bigelow, 1892; Chiropsalmus quadrumanus (Müller, 1859; Chrysaora lactea Eschscholtz, 1829; Drymonema dalmatinum Haeckel, 1880; Linuche unguiculata (Swartz, 1788; Lychnorhiza lucerna Haeckel, 1880; Nausithoe aurea Silveira & Morandini, 1997; Phyllorhiza punctata von Lendenfeld, 1884; Stomolophus meleagris Agassiz, 1862; Tamoya haplonema Müller, 1859; and Tripedalia cystophora Conant, 1897.

Revision of the Maastrichtian-Palaeocene charophyte biostratigraphy of the Fontllonga reference section (southern Pyrenees, Catalonia, Spain)

Energy Technology Data Exchange (ETDEWEB)

Vicente, A.; Villalba-Breva, S.; Ferrandez-Cañadell, C.; Martin-Closa

2016-07-01

The Fontllonga section is one of the best-known stratigraphic sections wordwide for the study of charophyte biostratigraphy of the Maastrichtian and lower Palaeocene. An updated proposal for the charophyte biostratigraphy of this section is presented after summarizing previous knowledge. The zone of Peckichara cancellata allows the upper Campanian–lowermost Maastrichtian to be characterised in the base of the section (La Maçana Formation). The Microchara punctata biozone represents most of the Maastrichtian (Figuerola Formation). Within this biozone, a Clavator ultimus subzone is proposed to improve characterisation of the lower and middle Maastrichtian. Both the upper and lower boundaries of the Microchara punctata biozone proposed in previous studies are modified based on new occurrences of the index species. A charophyte assemblage belonging to the Dughiella bacillaris biozone is reported for the first time from the middle of the section (Perauba Complex) and provides an age for this unit ranging from the upper Danian to lower Thanetian. A foraminifer assemblage found in the basal marine deposits above the non-marine succession of the Fontllonga section provides new biostratigraphic data to locate the upper boundary of the non-marine succession at least within the upper Thanetian. (Author)

Comprehensive evaluation of nitrogen removal rate and biomass, ethanol, and methane production yields by combination of four major duckweeds and three types of wastewater effluent.

Science.gov (United States)

Toyama, Tadashi; Hanaoka, Tsubasa; Tanaka, Yasuhiro; Morikawa, Masaaki; Mori, Kazuhiro

2018-02-01

To assess the potential of duckweeds as agents for nitrogen removal and biofuel feedstocks, Spirodela polyrhiza, Lemna minor, Lemna gibba, and Landoltia punctata were cultured in effluents of municipal wastewater, swine wastewater, or anaerobic digestion for 4 days. Total dissolved inorganic nitrogen (T-DIN) of 20-50 mg/L in effluents was effectively removed by inoculating with 0.3-1.0 g/L duckweeds. S. polyrhiza showed the highest nitrogen removal (2.0-10.8 mg T-DIN/L/day) and biomass production (52.6-70.3 mg d.w./L/day) rates in all the three effluents. Ethanol and methane were produced from duckweed biomass grown in each effluent. S. polyrhiza and L. punctata biomass showed higher ethanol (0.168-0.191, 0.166-0.172 and 0.174-0.191 g-ethanol/g-biomass, respectively) and methane (340-413 and 343-408 NL CH 4 /kg VS, respectively) production potentials than the others, which is related to their higher carbon and starch contents and calorific values. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Inherited Retinal Degenerative Disease Registry

Science.gov (United States)

2017-09-13

Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth

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Benedetta Gualeni

2013-11-01

Disease mechanisms leading to different forms of chondrodysplasia include extracellular matrix (ECM alterations and intracellular stress resulting in abnormal changes to chondrocyte proliferation and survival. Delineating the relative contribution of these two disease mechanisms is a major challenge in understanding disease pathophysiology in genetic skeletal diseases and a prerequisite for developing effective therapies. To determine the influence of intracellular stress and changes in chondrocyte phenotype to the development of chondrodysplasia, we targeted the expression of the G2320R mutant form of thyroglobulin to the endoplasmic reticulum (ER of resting and proliferating chondrocytes. Previous studies on this mutant protein have shown that it induces intracellular aggregates and causes cell stress and death in the thyroid gland. The expression and retention of this exogenous mutant protein in resting and proliferating chondrocytes resulted in a chronic cell stress response, growth plate dysplasia and reduced bone growth, without inducing any alterations to the architecture and organization of the cartilage ECM. More significantly, the decreased bone growth seemed to be the direct result of reduced chondrocyte proliferation in the proliferative zone of growth plates in transgenic mice, without transcriptional activation of a classical unfolded protein response (UPR or apoptosis. Overall, these data show that mutant protein retention in the ER of resting and proliferative zone chondrocytes is sufficient to cause disrupted bone growth. The specific disease pathways triggered by mutant protein retention do not necessarily involve a prototypic UPR, but all pathways impact upon chondrocyte proliferation in the cartilage growth plate.

Critical Taxonomic Appraisal of Some Taxa of Pedicularis from Indian Himalayas Belonging to Section Siphonanthae

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Arti Garg

2009-06-01

Full Text Available The existing confusion on the taxonomic status of five taxa of Pedicularis viz. P. punctata Decne, P. siphonantha D. Don, P. hookeriana Wall. ex Benth., P. megalantha D. Don and P. hoffmeisteri Kl. ex Kl. & Garcke is resolved on the basis of critical morphological study. These taxa belong to section Siphonanthae, subgenus Longirostres. Pennell’s view of segregating these taxa into distinct species is defended and upheld.

Efecto de las actividades humanas sobre la diversidad de mamíferos terrestres en un gradiente altitudinal

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Lilliana Piedra C

2000-03-01

Full Text Available The effect of human activity on terrestrial mammals was studied with footprint counts in Guanacaste, Costa Rica (10°30'N, 85°40'W in February 1998 (in fifty 2 m² quadrats. The most common species were Canis latrans, Didelphis marsupialis, Odoicoleus virginianus, Dasyprocta punctata and Tapirus bairdii. No stastically significant association was found between humna activity and mammal frequency in the footprint counts.

Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia

Science.gov (United States)

Odent, S.; Loget, P.; Le Marec, B.; Delezoide, A.; Maroteaux, P.

1999-01-01

We report on a female fetus of 24 weeks whose clinical and radiological findings were compatible with boomerang dysplasia (BD). However, histopathology was unusual with a lateral fan shaped diaphyseal ossification. This has never been described either in typical atelosteogenesis I (AT-I) or in BD. The purpose of this report is to find out if this condition is a separate lethal bone dysplasia or another histological feature of the nosological group of AT-I and BD. 


Keywords: boomerang dysplasia; atelosteogenesis; lethal chondrodysplasia; lethal dwarfism PMID:10227404

Karyotype Diversity and Evolutionary Trends in Armored Catfish Species of the Genus Harttia (Siluriformes: Loricariidae).

Science.gov (United States)

Blanco, Daniel Rodrigues; Vicari, Marcelo Ricardo; Lui, Roberto Laridondo; Traldi, Josiane Baccarin; Bueno, Vanessa; Martinez, Juliana de Fátima; Brandão, Heleno; Oyakawa, Osvaldo Takeshi; Moreira Filho, Orlando

2017-04-01

Most species of the genus Harttia inhabits the headwaters of small tributaries, but some species are restricted to the main channel of some rivers. This feature, combined with limited dispersal ability, leads to the formation of small isolated populations with reduced gene flow. Currently, there are 23 taxonomically defined and recognized species, and 17 of these are found in Brazil, distributed in several hydrographic basins. Despite this diversity, few chromosomal data for the species belonging to this genus are found in the literature. Thus, this study analyzed, by classical and molecular cytogenetics methodologies, the chromosomal diversity of this genus, to discuss the processes that are involved in the evolution and karyotype differentiation of the species of the group. Seven species of Harttia were analyzed: H. kronei, H. longipinna, H. gracilis, H. punctata, H. loricariformis, H. torrenticola, and H. carvalhoi. The chromosomal diversity found in these species includes different diploid and fundamental numbers, distinct distribution of several repetitive sequences, the presence of supernumerary chromosomes in H. longipinna and multiple sex chromosome systems of the type XX/XY 1 Y 2 in H. carvalhoi and X 1 X 1 X 2 X 2 /X 1 X 2 Y in H. punctata. Lastly, our data highlight the genus Harttia as an excellent model for evolutionary studies.

Fertility signaling - the proximate mechanism of worker policing in a clonal ant

DEFF Research Database (Denmark)

Hartmann, Anne; D'Ettorre, Patrizia; Jones, Graeme R.

2005-01-01

In eusocial insects, the ability to regulate reproduction relies on cues that signal the presence of fertile individuals. We investigated the variation of cuticular hydrocarbons (CHCs) with reproductive status in Platythyrea punctata, an ant, in which all workers are capable of producing daughters...... to old reproductives, but not when it was similar to that of nonreproductives. CHCs appear to signal the fertility of individuals and induce policing behavior towards surplus reproductive workers....

An RNA-splicing mutation (G{sup +51VS20}) in the Type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

Energy Technology Data Exchange (ETDEWEB)

Tiller, G.E.; Polumbo, P.A. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States); Weis, M.A.; Eyre, D.R. [Univ. of Washington, Seattle, WA (United States); Gruber, H.E.; Rimoin, D.L.; Cohn, D.H. [Cedars-Sinai Medical Center, Los Angeles, CA (United States)]|[Univ. of California School of Medicine, Los Angeles, CA (United States)

1995-02-01

Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus with an inherited form of SEDC contained both normal {alpha}1(II) collagen chains and chains that lacked amino acids 256-273 of the triple-helical domain. PCR amplification of this region of COL2A1, from genomic DNA, yielded products of normal size, while amplification of cDNA yielded a normal sized species and a shorter fragment missing exon 20. Sequence analysis of genomic DNA from the fetus revealed a G{yields}T transversion at position +5 of intron 20; the affected father was also heterozygous for the mutation. Allele-specific PCR and heteroduplex analysis of a VNTR in COL2A1 independently confirmed the unaffected status of a fetus in a subsequent pregnancy. Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U{sub 1} small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele. Electron micrographs of diseased cartilage showed intracellular inclusion bodies, which were stained by an antibody to {alpha}1(II) procollagen. Our findings support the hypothesis that {alpha}-chain length alterations that preserve the Gly-X-Y repeat motif of the triple helix result in partial intracellular retention of {alpha}1(II) procollagen and produce mild to moderate chondrodysplasia phenotypes. 50 refs., 6 figs., 1 tab.

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Science.gov (United States)

Risom, Lotte; Christoffersen, Line; Daugaard-Jensen, Jette; Hove, Hanne Dahlgaard; Andersen, Henriette Skovgaard; Andresen, Brage Storstein; Kreiborg, Sven; Duno, Morten

2013-01-01

Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with PTH1R mutations will not benefit from surgical and/or orthodontic treatment and it is therefore clinically important to establish whether a given failure of tooth eruption is caused by a PTH1R defect or not. We analyzed the PTH1R gene in six patients clinically diagnosed with PFE, all of which had undergone surgical and/or orthodontic interventions, and identified novel PTH1R mutations in all. Four of the six mutations were predicted to abolish correct mRNA maturation either through introduction of premature stop codons (c.947C>A and c.1082G>A), or by altering correct mRNA splicing (c.544-26_544-23del and c.989G>T). The latter was validated by transfection of minigenes. The six novel mutations expand the mutation spectrum for PFE from eight to 14 pathogenic mutations. Loss-of-function mutations in PTH1R are also associated with recessively inherited Blomstrand chondrodysplasia. We compiled all published PTH1R mutations and identified a mutational overlap between Blomstrand chondrodysplasia and PFE. The results suggest that a genetic approach to preclinical diagnosis will have important implication for surgical and orthodontic treatment of patients with failure of tooth eruption.

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

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Lotte Risom

Full Text Available Primary Failure of tooth Eruption (PFE is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R. Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with PTH1R mutations will not benefit from surgical and/or orthodontic treatment and it is therefore clinically important to establish whether a given failure of tooth eruption is caused by a PTH1R defect or not. We analyzed the PTH1R gene in six patients clinically diagnosed with PFE, all of which had undergone surgical and/or orthodontic interventions, and identified novel PTH1R mutations in all. Four of the six mutations were predicted to abolish correct mRNA maturation either through introduction of premature stop codons (c.947C>A and c.1082G>A, or by altering correct mRNA splicing (c.544-26_544-23del and c.989G>T. The latter was validated by transfection of minigenes. The six novel mutations expand the mutation spectrum for PFE from eight to 14 pathogenic mutations. Loss-of-function mutations in PTH1R are also associated with recessively inherited Blomstrand chondrodysplasia. We compiled all published PTH1R mutations and identified a mutational overlap between Blomstrand chondrodysplasia and PFE. The results suggest that a genetic approach to preclinical diagnosis will have important implication for surgical and orthodontic treatment of patients with failure of tooth eruption.

Ellis-van Creveld syndrome with facial hemiatrophy

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Bhat Yasmeen

2010-01-01

Full Text Available Ellis-van Creveld (EVC syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.

Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.

Science.gov (United States)

Castilla-Cortázar, Inma; Rodríguez De Ita, Julieta; Martín-Estal, Irene; Castorena, Fabiola; Aguirre, Gabriel A; García de la Garza, Rocío; Elizondo, Martha I

2017-02-01

Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency. For this reason, we propose IGF-1 replacement therapy for its well-known actions on hematopoiesis, immune function and maturation, and metabolism. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

[Wildlife damage mitigation in agricultural crops in a Bolivian montane forest].

Science.gov (United States)

Perez, Eddy; Pacheco, Luis F

2014-12-01

Wildlife is often blamed for causing damage to human activities, including agricultural practices and the result may be a conflict between human interests and species conservation. A formal assessment of the magnitude of damage is necessary to adequately conduct management practices and an assessment of the efficiency of different management practices is necessary to enable managers to mitigate the conflict with rural people. This study was carried out to evaluate the effectiveness of agricultural management practices and controlled hunting in reducing damage to subsistence annual crops at the Cotapata National Park and Natural Area of Integrated Management. The design included seven fields with modified agricultural practices, four fields subjected to control hunting, and five fields held as controls. We registered cultivar type, density, frequency of visiting species to the field, crops lost to wildlife, species responsible for damage, and crop biomass. Most frequent species in the fields were Dasyprocta punctata and Dasypus novemcinctus. Hunted plots were visited 1.6 times more frequently than agriculturally managed plots. Crop lost to wildlife averaged 7.28% at agriculturally managed plots, 4.59% in plots subjected to hunting, and 27.61% in control plots. Species mainly responsible for damage were Pecari tajacu, D. punctata, and Sapajus apella. We concluded that both management strategies were effective to reduce damage by >50% as compared to unmanaged crop plots.

Characterization of a gene from the EDM1-PSACH region of human chromosome 19p

Energy Technology Data Exchange (ETDEWEB)

Lennon, G.G.; Giorgi, D.; Martin, J.R. [Lawrence Livermore National Lab., CA (United States)] [and others

1994-09-01

Genetic linkage mapping has indicated that both multiple epiphyseal dysplasia (EDM1), a dominantly inherited chondrodysplasia, and pseudoachondroplasia (PSACH), a skeletal disorder associated with dwarfism, map to a 2-3 Mb region of human chromosome 19p. We have isolated a partial cDNA from this region using hybrid selection, and report on progress towards the characterization of the genomic structure and transcription of the corresponding gene. Sequence analysis of the cDNA to date indicates that this gene is likely to be expressed within extracellular matrix tissues. Defects in this gene or neighboring gene family members may therefore lead to EDM1, PSACH, or other connective tissue and skeletal disorders.

Diversity and distribution of ticks from domestic ruminants in Lebanon.

Science.gov (United States)

Dabaja, Mayssaa Fawaz; Tempesta, Maria; Bayan, Ali; Vesco, Gesualdo; Vesco, Gesualdo; Greco, Grazia; Torina, Alessandra; Blanda, Valeria; La Russa, Francesco; Scimeca, Salvatore; Ezzedine, Mohamad; Mortada, Hussein; Raoult, Didier; Fournier, Pierre Edouard; Mortada, Mohamad

2017-06-30

Ticks (Acari: Ixodidae) are ectoparasites infesting livestock in every geographic area in the world and they are vectors of several viral, bacterial, and protozoan pathogens to animals and humans worldwide. A deep knowledge of the geographical distribution of these arthropods would have a key role in the control of tick-borne diseases. Few data are available about tick presence in domestic ruminants in Lebanon. The study aimed at providing an analysis of tick presence and distribution in Lebanon. Ticks were collected from cattle, sheep, and goats farms distributed in 6 Lebanese provinces between June and September 2014. A total of 272 adult hard ticks were randomly collected from domestic ruminants (cattle, sheep, and goats) located at 37 Lebanese farms, distributed among 30 villages. Ticks belonged to 4 Ixodidae genera: Rhipicephalus (72.4%), Haemaphysalis (11.4%), Dermacentor (8.1%), and Hyalomma (8.1%). They included the following species: Rhipicephalus annulatus (50.7%), Rhipicephalus turanicus (18.8%), Hyalomma anatolicum (8.1%), Haemaphylasis punctata (11.4%), Dermacentor marginatus (8.1%), Rhipicephalus sanguineus (2.5%), and Rhipicephalus bursa (0.4%). Rhipicephalus turanicus and H. anatolicum were found on cattle, sheep, and goats, R. annulatus on cattle and sheep, R. sanguineus, D. marginatus and Hea. punctata on sheep and goats, while R. bursa was collected only on sheep. Tick species involved in pathogen transmission were found and some of the identi ed species were recorded in Lebanon for the rst time.

[18S-25S rDNA variation in tissue culture of some Gentiana L. species].

Science.gov (United States)

Mel'nyk, V M; Andrieiev, I O; Spiridonova, K V; Strashniuk, N M; Kunakh, V A

2007-01-01

18S-25S rDNA of intact plants and tissue cultures of G. acaulis, G. punctata and G. lutea have been investigated by using blot-hybridization. The decrease of rDNA amount was found in the callus cultures as compared with the plants. In contrast to other species, G. lutea showed intragenome heterogeneity of rRNA genes as well as qualitative rDNA changes in tissue culture, in particular appearance of altered repeats. The relationship between the peculiarities of rRNA gene structure and their rearrangements in in vitro culture was suggested.

Disponibilidade e valor nutritivo de forragem de leguminosas nativas (Adesmia DC. e exóticas (Lotus L. Availability and nutritive value of the wild leguminous (Adesmia DC. and exotics (Lotus L.

Directory of Open Access Journals (Sweden)

Simone Meredith Scheffer-Basso

2001-06-01

Full Text Available O gênero Adesmia DC. possui 17 espécies nativas no Brasil, distribuídas nos Estados do Sul, cuja importância está vinculada a sua adaptação ao solo e clima regionais, além de ser de crescimento hibernal (temperadas. Este trabalho teve o objetivo comparar o padrão de acúmulo de matéria seca (MS e valor nutritivo de forragem de A. latifolia, A. punctata e A. tristis, tendo como padrão Lotus corniculatus (cornichão e L. uliginosus. O ensaio foi realizado em casa de vegetação durante 210 dias (4000 graus-dia. A disponibilidade de forragem (DF foi similar entre A. latifolia (276 g MS/m² e cornichão (275 g MS/m² e entre A. tristis (201g MS/m² e L. uliginosus (192 g MS/m², sendo que A. punctata apresentou a menor DF (155 g MS/m². A. latifolia caracterizou-se pela maior precocidade na DF, devido ao crescimento mais rápido em relação às demais espécies, sugerindo seu potencial para utilização durante a estação fria. Em relação às análises de qualidade, o teor de proteína bruta (PB nas folhas de A. latifolia foi de até 21,6% e a DIVMO atingiu 72,3%. Os maiores conteúdos de PB e DIVMO foram encontrados nas folhas de cornichão, 30,3 e 75,8%, respectivamente. A. tristis apresentou DIVMO muito baixa nos caules (34,9 a 44,7%, o que poderia limitar seu consumo por bovinos. Concluiu-se que, entre as espécies de Adesmia estudadas, A. latifolia detém o maior potencial forrageiro, sugerindo a continuidade de estudos com a espécie.The genus Adesmia DC. has 17 species native to Brazil, distributed in the Southern states, whose importance is linked to its adaptation to the soils and climatic conditions of the region, besides being an active winter-growing species (temperate. This work aimed to compare the patterns of dry matter (DM accumulation and nutritive value of A. latifolia, A. punctata and A. tristis, using Lotus corniculatus (birdsfoot trefoil and L. uliginosus (big trefoil, as checks. The experiment was carried out in

B. Radiologic-pathologic correlation of disturbed growth in children

International Nuclear Information System (INIS)

Borns, P.F.; Borden, S. IV.

1987-01-01

The second part of the course concentrates on the growing metaphysis in children as an indicator of bone growth and physiology. The authors concentrate on growth disturbances that cause abnormalities of metaphyseal contour, growth velocity, and width of the metaphysis. Densities within the metaphysis, including growth arrest lines, healing metaphyseal fractures, catch-up bone growth, and metabolic poisons, are addressed in detail. Radiographs with accompanying histopathologic sections are presented to illustrate the dynamic changes in the metaphyseal region in children. Lucencies in the metaphysis, including leukemic lines, metastatic disease, and acute disuse osteoporosis, receive special attention. Prognostic factors affecting the metasphysis such as intrinsic chondrodysplasia, previous fracture, or closure of the epiphyseal plate are described in detail

New mammalian records in the Parque Nacional Cerros de Amotape, northwestern Peru

Directory of Open Access Journals (Sweden)

Cindy M. Hurtado

2015-04-01

Full Text Available The Pacific Tropical Rainforest and Equatorial Dry Forest are found only in southern Ecuador and northern Peru, and are among the most poorly known ecosystems of South America. Even though these forests are protected in Parque Nacional Cerros de Amotape (PNCA, they are threatened by fragmentation because of farming and agriculture. The aim of this study was to determine the medium and large mammalian species richness, using transect census, camera trapping, and specimen bone collection. Nine transects were established and 21 camera trap stations were placed along 16 km2 in three localities of PNCA, from August 2012 to April 2013. Total sampling effort was 215 km of transects and 4077 camera-days. We documented 22 species; including 17 with camera trapping, 11 with transect census, and 10 with specimen collection.  Camera traps were the most effective method, and four species (Dasyprocta punctata, Cuniculus paca, Leopardus wiedii and Puma concolor were documented only with this method. This comprised the first Peruvian record for Dasyprocta punctata, and the first record for the western slope of the Peruvian Andes for Cuniculus paca. Also, both specimen collections and sightings confirm the presence of Potos flavus, first record in the western slope of the Peruvian Andes. Panthera onca, Tremarctos ornatus and Saimiri sciureus are considered locally extinct, while several species are in need of further research. We highlight the importance of the high diversity of this rainforests and encourage local authorities to give the area the highest priority in conservation.

New U-Pb zircon ages and the duration and division of Devonian time

Science.gov (United States)

Tucker, R.D.; Bradley, D.C.; Ver Straeten, C.A.; Harris, A.G.; Ebert, J.R.; McCutcheon, S.R.

1998-01-01

Newly determined U-Pb zircon ages of volcanic ashes closely tied to biostratigraphic zones are used to revise the Devonian time-scale. They are: 1) 417.6 ?? 1.0 Ma for an ash within the conodont zone of Icriodus woschmidti/I. w. hesperius Lochkovian); 2) 408.3 ?? 1.9 Ma for an ash of early Emsian age correlated with the conodont zones of Po. dehiscens--Lower Po. inversus; 3) 391.4 ?? 1.8 Ma for an ash within the Po. c. costatus Zone and probably within the upper half of the zone (Eifelian); and 4) 381.1 ?? 1.3 Ma for an ash within the range of the Frasnian conodont Palmatolepis punctata (Pa. punctata Zone to Upper Pa. hassi Zone). U-Pb zircon ages for two rhyolites bracketing a palyniferous bed of the pusillites-lepidophyta spore zone, are dated at 363.8 ?? 2.2 Ma and 363 ?? 2.2 Ma and 363.4 ?? 1.8 Ma, respectively, suggesting an age of ~363 Ma for a level within the late Famennian Pa. g. expansa Zone. These data, together with other published zircon ages, suggest that the base and top of the Devonian lie close to 418 Ma and 362 Ma, respectively, thus lengthening the period of ~20% over current estimates. We suggest that the duration of the Middle Devonian (Eifelian and Givitian) is rather brief, perhaps no longer than 11.5 Myr (394 Ma-382.5 Ma), and that the Emsian and Famennian are the longest stages in the period with estimated durations of ~15.5 Myr and 14.5 Myr, respectively.

Haematological, ocular and skeletal abnormalities in a Samoyed family

International Nuclear Information System (INIS)

Aroch, I.; Ofri, R.; Aizenberg, I.

1996-01-01

Haematological, ocular and skeletal abnormalities were documented in a samoyed male and its five offspring. Haematological abnormalities, found in repeated tests in all the dogs, included marked eosinophilia, eosinophilic bands and absence of Barr bodies. Two of the dogs had bilateral buphthalmia, retinal detachments and other ocular abnormalities. Three of the dogs had skeletal abnormalities including chondrodysplasia (dwarfism) and brachygnathia (undershot jaw). A similar combination of inherited skeletal and ocular disorders, without the haematological abnormalities, has been described in samoyeds. Acquired causes for the haematological findings, which are similar to the inherited Pelger-Huët anomaly described in several species, have been eliminated. Eosinophilic bands and scarcity of Barr bodies could be a marker, or a previously unreported manifestation, of an inherited disorder in samoyeds

Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

Science.gov (United States)

Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

2015-01-01

Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

Dwarfism and gigantism in historical picture postcards.

Science.gov (United States)

Enderle, A

1998-01-01

A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary dwarfism and achondroplasia. Most of those with gigantism had pituitary gigantism and acromegaly. Brothers and sisters or parents and their children provided evidence of mendelian inheritance of some of these disorders. The cards suggest that being put on show provided, at least in some cases, social benefits. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:9764085

Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean Population.

Directory of Open Access Journals (Sweden)

Eun Jin Woo

Full Text Available Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

Abilities of some higher plants to hydrolyze the acetates of phenols and aromatic-aliphatic alcohols

Directory of Open Access Journals (Sweden)

Agnieszka Mironowicz

2014-01-01

Full Text Available In the biotransformations carried out under the same conditions, the whole intact plants of Spirodela punctata, Nephrolepis exaltata, Cyrtomium falcatum, Nephrolepis cordifolia and the suspension cultures of Helianthus tuberosus, Daucus carota and Petunia hybrida hydrolyze (partially or totally the ester bonds of the acetates of phenols and aromatic-aliphatic alcohols and also the menthyl acetate. Nevertheless, the methyl esters of aromatic acids, structurally similar to the former substrates, do not undergo hydrolysis. At the same time, the viability of first four plants was observed for different levels of acetate concentration. The method of continuous preparative hydrolysis of the same acetates was worked out in Cyrtomium falcatum culture.

Hydrops associated with chondrodysplasia of the fetus in a miniature Scottish Highland cow.

Science.gov (United States)

Catalina Cabrera, L; McNabb, Bret R; Woods, Sarah E; Cartoceti, Andrew N; Busch, Rosie C

2016-03-01

CASE DESCRIPTION A 2-year-old primiparous miniature Scottish Highland cow with an unknown breeding date was evaluated for suspected hydrops. CLINICAL FINDINGS Transabdominal and transrectal ultrasonographic examination identified a large amount of hypoechoic fluid within an enlarged uterus; the fetus could not be identified. Presence of a severely distended uterus and concerns regarding associated health risks to the cow led to the decision to induce labor. Although fluids were expelled, parturition did not progress further over the following 48 hours. Vaginal examination revealed a partially dilated cervix and an abnormally shaped fetus that was too large to pass vaginally. TREATMENT AND OUTCOME Supportive care was provided to the cow, and a stillborn bull calf was delivered by cesarean section. Grossly evident chondrodystrophic dwarfism with hydrocephalus, compatible with so-called bulldog calf malformations, was confirmed by diagnostic imaging and histopathologic evaluation. The cow recovered from surgery uneventfully and was discharged from the hospital the following day. Genetic analysis of DNA from hair roots collected from the sire and dam confirmed both were carriers of an aggrecan-1 gene mutation (bulldog dwarfism1) previously associated with dwarfism and bulldog calf malformations in Dexter cattle. CLINICAL RELEVANCE To our knowledge, this is the first reported case of bulldog calf malformations associated with an aggrecan-1 gene mutation in miniature Scottish Highland cattle, confirming that at least 1 genetic mutation associated with this condition is found in cattle breeds other than Dexter. The findings highlighted the clinical importance of testing for known genetic diseases in breeding cattle, particularly among miniature breeds.

Cytotoxicity screening of Bangladeshi medicinal plant extracts on pancreatic cancer cells

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Abbasi Atiya

2010-09-01

Full Text Available Abstract Background There has been a long standing interest in the identification of medicinal plants and derived natural products for developing cancer therapeutics. Our study focuses upon pancreatic cancer, due to its high mortality rate, that is attributed in part to the lack of an effective chemotherapeutic agent. Previous reports on the use of medicinal plant extracts either alone or alongside conventional anticancer agents in the treatment of this cancer have shown promising results. This work aims to investigate the therapeutic properties of a library of medicinal plants from Bangladesh. Methods 56 extracts of 44 unique medicinal plants were studied. The extracts were screened for cytotoxicity against the pancreatic adenocarcinoma cell line Panc-1, using a label-free biosensor assay. The top cytotoxic extracts identified in this screen were tested on two additional pancreatic cancer cell lines (Mia-Paca2 and Capan-1 and a fibroblast cell line (Hs68 using an MTT proliferation assay. Finally, one of the most promising extracts was studied using a caspase-3 colorimetric assay to identify induction of apoptosis. Results Crude extracts of Petunia punctata, Alternanthera sessilis, and Amoora chittagonga showed cytotoxicity to three cancer cell lines with IC50 values ranging between 20.3 - 31.4 μg/mL, 13.08 - 34.9 μg/mL, and 42.8 - 49.8 μg/mL, respectively. Furthermore, treatment of Panc-1 cells with Petunia punctata was shown to increase caspase-3 activity, indicating that the observed cytotoxicity was mediated via apoptosis. Only Amoora chittagonga showed low cytotoxicity to fibroblast cells with an IC50 value > 100 μg/mL. Conclusion Based upon the initial screening work reported here, further studies aimed at the identification of active components of these three extracts and the elucidation of their mechanisms as cancer therapeutics are warranted.

Evaluación ambiental del río San Juan de Santiago de Cuba por exposición bioacumulativa a metales pesados Environmental evaluation of San Juan river in Santiago de Cuba due to bioaccumulative exposure to heavy metals

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George Argota Pérez

2012-08-01

Full Text Available Se evaluó la salud ambiental del río San Juan de Santiago de Cuba, expuesto a metales pesados, mediante la utilización de la especie biorreguladora Gambusia punctata. Se analizaron 271 individuos adultos clasificados por sexo, para lo cual se escogieron los intervalos de clases de edades 2,1-3,0 y 3,1-4,0 cm, según la longitud total, respectivamente. La mezcla ácida aplicada estuvo compuesta por ácido perclórico - ácido sulfúrico; (7:1 ácido nítrico para determinar los niveles bioacumulados en hígado, branquias y cerebro como órganos diana. Los metales analizados: cobre, zinc, plomo y cadmio, se cuantificaron mediante espectrometría por plasma inductivamente acoplado con vista axial. Se hallaron diferencias significativas (pThe environmental health of San Juan river in Santiago de Cuba, exposed to heavy metals was evaluated by means of the bioregulatory species Gambusia punctata. Two hundred and seventy five adults were analyzed and classified by sex, for whom the intervals of age classes 2.1-3.0 and 3.1-4.0 cm were chosen, according to the total longitude, respectively. The applied acid mixture was composed by perchloric acid - sulphuric acid; (7:1 nitric acid to determine the bioaccumulated levels in liver, branchiae and brain as target organs. The analyzed metals: copper, zinc, lead and cadmium, were quantified by means of spectrometry by plasma inductively coupled with axial view. There were significant differences (p <0.05 in the bioaccumulated values between intervals and sexes. It was concluded that the levels of bioaccumulated heavy metals overcame the permissible values, so that they represent an environmental risk in the quality of those waters.

Review of the Eriococcidae (Hemiptera: Coccomorpha) infesting Fabaceae in Argentina, with descriptions of three new species of Acanthococcus Signoret.

Science.gov (United States)

González, Patricia; Claps, Lucía E; Juárez, Andrea; Moreno, Diego

2017-02-15

Three new species of Eriococcidae from Argentina, namely Acanthococcus haywardi Juárez & González sp. nov., A. punctatae Juárez & González sp. nov. and A. riojensis Juárez & González sp. nov., are described and illustrated, bringing the total number of eriococcid species now known from Argentina to 12, of which six belong to Acanthococcus Signoret and six to Hempelicoccus Kozár. They are found on 11 species of Fabaceae (subfamilies Mimosoideae and Caesalpinioidae), are widely distributed and are all restricted to the Neotropical region and the South American Transitional Zone. A key to the 12 Eriococcidae species now known on Fabaceae in Argentina is included.

Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

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Shuji Mizumoto

2014-01-01

Full Text Available Glycosaminoglycans (GAGs are constructed through the stepwise addition of respective monosaccharides by various glycosyltransferases and maturated by epimerases and sulfotransferases. The structural diversity of GAG polysaccharides, including their sulfation patterns and sequential arrangements, is essential for a wide range of biological activities such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Studies using knockout mice of enzymes responsible for the biosynthesis of the GAG side chains of proteoglycans have revealed their physiological functions. Furthermore, mutations in the human genes encoding glycosyltransferases, sulfotransferases, and related enzymes responsible for the biosynthesis of GAGs cause a number of genetic disorders including chondrodysplasia, spondyloepiphyseal dysplasia, and Ehlers-Danlos syndromes. This review focused on the increasing number of glycobiological studies on knockout mice and genetic diseases caused by disturbances in the biosynthetic enzymes for GAGs.

Ellis-van Creveld syndrome in an Indian child: a case report

Energy Technology Data Exchange (ETDEWEB)

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth [Yenepoya Dental College, Yenepoya University, Mangalore (India)

2011-12-15

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Ellis-van Creveld syndrome in an Indian child: a case report

International Nuclear Information System (INIS)

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-01-01

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Usher syndrome type III can mimic other types of Usher syndrome.

Science.gov (United States)

Pennings, Ronald J E; Fields, Randall R; Huygen, Patrick L M; Deutman, August F; Kimberling, William J; Cremers, Cor W R J

2003-06-01

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish Deerhounds

International Nuclear Information System (INIS)

Breur, G.J.; Zerbe, C.A.; Slocombe, R.F.; Padgett, G.A.; Braden, T.D.

1989-01-01

Clinical, radiographic, pathologic, and genetic features of a form of osteochondrodysplasia in 5 related Scottish Deerhound pups from 2 litters were evaluated. All pups appeared to be phenotypically normal at birth. At approximately 4 or 5 weeks, exercise intolerance and retarded growth were observed. Kyphosis, limb deformities, and joint laxity gradually developed. Radiography of the affected pups revealed skeletal changes characterized by abnormalities in long bones and vertebrae, with involvement of epiphyses, growth plates, and metaphyses. Short long bones and vertebrae and irregular and delayed epiphyseal ossification were most noticeable in younger pups; in older pups, bony deformities became more prominent. In skeletally mature dogs, osteopenia and severe deformities were seen. The histologic changes of the growth plate were compatible with a diagnosis of chondrodysplasia. Growth plate chondrocytes contained periodic acid Schiff-positive, diastase-resistant cytoplasmic inclusions. A single autosomal recessive mode of inheritance was suspected

Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption

DEFF Research Database (Denmark)

Risom, Lotte; Christoffersen, Line Borck; Daugaard-Jensen, Jette

2013-01-01

Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients...... undergone surgical and/or orthodontic interventions, and identified novel PTH1R mutations in all. Four of the six mutations were predicted to abolish correct mRNA maturation either through introduction of premature stop codons (c.947C>A and c.1082G>A), or by altering correct mRNA splicing (c.544......-26_544-23del and c.989G>T). The latter was validated by transfection of minigenes. The six novel mutations expand the mutation spectrum for PFE from eight to 14 pathogenic mutations. Loss-of-function mutations in PTH1R are also associated with recessively inherited Blomstrand chondrodysplasia. We compiled all...

Description of five species of Xanthopimpla Saussure 1892 (Hymenoptera: Ichneumonidae: Pimplinae) from Malaysia

Science.gov (United States)

Dass, Angeline David; Ghani, Idris Abd.

2013-11-01

Description of five species of Xanthopimpla Saussure, 1829 (Hymenoptera: Ichneumonidae: Pimplinae) from Malaysia was done using specimens deposited in Centre for Insects Systematics, Universiti Kebangsaan Malaysia (CIS, UKM). Type and non-type specimens were loaned from several repositories namely Zoological Museum of Amsterdam Netherlands (ZMAN), Swedish Museum of Natural History (NRM), British Natural History Museum London (BMNH) and Department of Agricultural Malaysia (DOA) for identification and comparison. The specimens were identified to the species level which gives rise to five species namely Xanthopimpla conica Cushman, 1925, Xanthopimpla despinosa leipephelis Townes & Chiu, 1970, Xanthopimpla flavolineata Cameron, 1907, Xanthopimpla punctata (Fabricius, 1781) and Xanthopimpla tricapus impressa Townes & Chiu, 1970. A dichotomous key and descriptions for five Xanthopimpla spesies were provided. Photos and illustrations of carina on propodeum were also included in this paper.

Detection of Rickettsia hoogstraalii, Rickettsia helvetica, Rickettsia massiliae, Rickettsia slovaca and Rickettsia aeschlimannii in ticks from Sardinia, Italy.

Science.gov (United States)

Chisu, Valentina; Leulmi, Hamza; Masala, Giovanna; Piredda, Mariano; Foxi, Cipriano; Parola, Philippe

2017-03-01

Tick-borne diseases represent a large proportion of infectious diseases that have become a world health concern. The presence of Rickettsia spp. was evaluated by standard PCR and sequencing in 123 ticks collected from several mammals and vegetation in Sardinia, Italy. This study provides the first evidence of the presence of Rickettsia hoogstralii in Haemaphysalis punctata and Haemaphysalis sulcata ticks from mouflon and Rickettsia helvetica in Ixodes festai ticks from hedgehog. In addition, Rickettsia massiliae, Rickettsia slovaca and Rickettsia aeschlimannii were detected in Rhipicephalus sanguineus, Dermacentor marginatus and Hyalomma marginatum marginatum ticks from foxes, swine, wild boars, and mouflon. The data presented here increase our knowledge of tick-borne diseases in Sardinia and provide a useful contribution toward understanding their epidemiology. Copyright © 2016 Elsevier GmbH. All rights reserved.

Cervical spine abnormalities and instability with myelopathy in warfarin-related chondrodysplasia: 17-year follow-up

International Nuclear Information System (INIS)

Takano, Hideyuki; Smith, W.L.; Sato, Yutaka; Kao, S.C.S.

1998-01-01

A patient with warfarin embryopathy developed progressive cervical spinal myelopathy owing to bony cervical spinal damage. While there are several descriptions of warfarin embryopathy, the long-term complication of cervical spinal instability has not been reported. This cervical instability may, as in our patient, cause severe neurological dysfunction or even sudden death; therefore, it is important that pediatric radiologists should be alert to this condition. (orig.)

Cervical spine abnormalities and instability with myelopathy in warfarin-related chondrodysplasia: 17-year follow-up

Energy Technology Data Exchange (ETDEWEB)

Takano, Hideyuki; Smith, W.L.; Sato, Yutaka; Kao, S.C.S. [Department of Radiology, The University of Iowa Clinics and Hospitals, 200 Hawkins Dr., F3966 JPP, Iowa City, IA 52242-1077 (United States)

1998-07-01

A patient with warfarin embryopathy developed progressive cervical spinal myelopathy owing to bony cervical spinal damage. While there are several descriptions of warfarin embryopathy, the long-term complication of cervical spinal instability has not been reported. This cervical instability may, as in our patient, cause severe neurological dysfunction or even sudden death; therefore, it is important that pediatric radiologists should be alert to this condition. (orig.) With 5 figs., 9 refs.

EcmPred: Prediction of extracellular matrix proteins based on random forest with maximum relevance minimum redundancy feature selection

KAUST Repository

Kandaswamy, Krishna Kumar Umar

2013-01-01

The extracellular matrix (ECM) is a major component of tissues of multicellular organisms. It consists of secreted macromolecules, mainly polysaccharides and glycoproteins. Malfunctions of ECM proteins lead to severe disorders such as marfan syndrome, osteogenesis imperfecta, numerous chondrodysplasias, and skin diseases. In this work, we report a random forest approach, EcmPred, for the prediction of ECM proteins from protein sequences. EcmPred was trained on a dataset containing 300 ECM and 300 non-ECM and tested on a dataset containing 145 ECM and 4187 non-ECM proteins. EcmPred achieved 83% accuracy on the training and 77% on the test dataset. EcmPred predicted 15 out of 20 experimentally verified ECM proteins. By scanning the entire human proteome, we predicted novel ECM proteins validated with gene ontology and InterPro. The dataset and standalone version of the EcmPred software is available at http://www.inb.uni-luebeck.de/tools-demos/Extracellular_matrix_proteins/EcmPred. © 2012 Elsevier Ltd.

The cyanobacterial bicarbonate transporter BicA: its physiological role and the implications of structural similarities with human SLC26 transporters.

Science.gov (United States)

Price, G Dean; Howitt, Susan M

2011-04-01

The cyanobacterial Na+-dependent HCO3- transporter BicA is a member of the ubiquitous and important SulP/SLC26 family of anion transporters found in eukaryotes and prokaryotes. BicA is an important component of the cyanobacterial CO2 concentrating mechanism, an adaptation that contributes to cyanobacteria being able to achieve an estimated 25% of global primary productivity, largely in the oceans. The human SLC26 members are involved in a range of key cellular functions involving a diverse range of anion transport activities including Cl-/HCO3-, I-/HCO3-, and SO42-/HCO3- exchange; mutations in SLC26 members are known to be associated with debilitating diseases such as Pendred syndrome, chondrodysplasias, and congenital chloride diarrhoea. We have recently experimentally determined the membrane topology of BicA using the phoA-lacZ reporter system and here consider some of the extrapolated implications for topology of the human SLC26 family and the Sultr plant sulphate transporters.

A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins

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V. P. Fedotov

2015-01-01

Full Text Available Hereditary motor-sensory neuropathy (MIM 118200 is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic bone disease with an autosomal dominant mode of inheritance. The combination of two rare autosomal dominant diseases, affecting bone and peripheral nervous system in a pair of monozygotic twins and their father in one family, belongs to a unique clinical observations: since early childhood twins presented sharp reduction of the conduction velocity in all investigated motor nerves (>10 times together with multiple exostosis bone, confirmed by x-ray with a relatively benign course. Similar manifestations were detected in the patients father. DNA analysis confirmed the presence of 2 separate mutations in 2 different genes, с.389А>G/N gene MPZ and c.678С>А/N EXT2 gene that was inherited autosomal dominant manner, independently of each members of the same family.

Achondroplasia Presenting with Pneumonia in a Two Months Old Boy

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Huseyin Bilgin

2014-03-01

Full Text Available Achondroplasia is one of the common chondrodysplasias with an inheritance is autosomal dominant, but in around 85% the phenotype is the result of a new mutation. Achondroplasia develops as a result of dysplasia of enchondral formation due to the mutation of fibroblast growth factor receptor 3. A 2-month-old boy was referred to the our hospital with cough and fever. Craniofacially the head appeared large and also frontal bossing and depressed nasal bridge was demonstrated. Narrow lumbar interpedicular distances, normal trunk length, short-wide pelvis, micromelic upper extremities and rhizomelic lower extremities were seen on x-ray examination. The clinically and radiographically diagnosis of achondroplasia with heart failure secondary to pneumonia was performed. Achondroplasia, presenting with respiratory disorders and short limb should be differentiated from metatropic dysplasia and campomelic dysplasia. Achondroplasia may had similar findings with other dwarfism and differentiate diagnosis from other achondroplasia like diseases needs team work which includes pediatry, radiology and medical genetic for better patient care and family counseling.

Beta1 integrins regulate chondrocyte rotation, G1 progression, and cytokinesis

DEFF Research Database (Denmark)

Aszodi, Attila; Hunziker, Ernst B; Brakebusch, Cord

2003-01-01

Beta1 integrins are highly expressed on chondrocytes, where they mediate adhesion to cartilage matrix proteins. To assess the functions of beta1 integrin during skeletogenesis, we inactivated the beta1 integrin gene in chondrocytes. We show here that these mutant mice develop a chondrodysplasia...... of various severity. beta1-deficient chondrocytes had an abnormal shape and failed to arrange into columns in the growth plate. This is caused by a lack of motility, which is in turn caused by a loss of adhesion to collagen type II, reduced binding to and impaired spreading on fibronectin, and an abnormal F......-actin organization. In addition, mutant chondrocytes show decreased proliferation caused by a defect in G1/S transition and cytokinesis. The G1/S defect is, at least partially, caused by overexpression of Fgfr3, nuclear translocation of Stat1/Stat5a, and up-regulation of the cell cycle inhibitors p16 and p21...

Invertebrates associated with ipomea aquatica in ogbe creek, logos, nigeria

International Nuclear Information System (INIS)

Saliu, J.K.; Fashola, Y.T.

2006-01-01

The association of invertebrates in Ogbe creek with Ipomea aquatica was investigated within the period from 7th September to 30th November, 2001, 167 invertebrates comprising of 19 species were harvested from 73 weeds. Corixa punctata (22.16%) was the most abundant invertebrate on Ipomea aquatica while Gyrinus notator larvae (0.60%) were the least abundant. The roots sheltered the highest number of invertebrates (113), comprising of 12 species recording a species diversity of 5.36 while the stem sheltered the lowest number of invertebrates (10) comprising of 3 species with a species diversity of 2.00. The ability of Ipomea aquaTica to harbour invertebrates was influenced by the morphological form of the plant. The root was the preferred site for the invertebrates because it was a suitable substrate for clinging and nutrient supply. (author)

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling.

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Laurent Schibler

Full Text Available Endochondral ossification is the process by which the appendicular skeleton, facial bones, vertebrae and medial clavicles are formed and relies on the tight control of chondrocyte maturation. Fibroblast growth factor receptor (FGFR3 plays a role in bone development and maintenance and belongs to a family of proteins which differ in their ligand affinities and tissue distribution. Activating mutations of the FGFR3 gene lead to craniosynostosis and multiple types of skeletal dysplasia with varying degrees of severity: thanatophoric dysplasia (TD, achondroplasia and hypochondroplasia. Despite progress in the characterization of FGFR3-mediated regulation of cartilage development, many aspects remain unclear. The aim and the novelty of our study was to examine whole gene expression differences occurring in primary human chondrocytes isolated from normal cartilage or pathological cartilage from TD-affected fetuses, using Affymetrix technology. The phenotype of the primary cells was confirmed by the high expression of chondrocytic markers. Altered expression of genes associated with many cellular processes was observed, including cell growth and proliferation, cell cycle, cell adhesion, cell motility, metabolic pathways, signal transduction, cell cycle process and cell signaling. Most of the cell cycle process genes were down-regulated and consisted of genes involved in cell cycle progression, DNA biosynthesis, spindle dynamics and cytokinesis. About eight percent of all modulated genes were found to impact extracellular matrix (ECM structure and turnover, especially glycosaminoglycan (GAG and proteoglycan biosynthesis and sulfation. Altogether, the gene expression analyses provide new insight into the consequences of FGFR3 mutations in cell cycle regulation, onset of pre-hypertrophic differentiation and concomitant metabolism changes. Moreover, impaired motility and ECM properties may also provide clues about growth plate disorganization. These results also suggest that many signaling pathways may be directly or indirectly altered by FGFR3 and confirm the crucial role of FGFR3 in the control of growth plate development.

CARTILAGE HAIR HYPOPLASIA, METAPHYSEAL CHONDRODYSPLASIA TYPE MCKUSICK - DESCRIPTION OF 7 PATIENTS AND REVIEW OF THE LITERATURE

NARCIS (Netherlands)

VANDERBURGT, [No Value; HARALDSSON, A; OOSTERWIJK, JC; VANESSEN, AJ; WEEMAES, C; HAMEL, B

1991-01-01

We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal

Gastrointestinal parasites of sheep, municipality of Lajes, Rio Grande do Norte, Brazil Parasitos do trato gastrintestinal de ovinos, município de Lajes, Rio Grande do Norte, Brasil

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Maria de Fátima de Souza

2012-03-01

Full Text Available This study investigated the gastrointestinal parasitism by helminths and protozoa in sheep (Ovis aries Santa Inês breed, municipality of Lajes, Rio Grande do Norte. Monthly, from April 2005 to August 2007, stool samples were collected from two tracer lambs in the first day of the experiment and performed a necropsy of these animals in 44th day. A total of 64 lambs were sampled, but only 62 lambs were slaughtered. The fecal samples were examined by sedimentation in water. The contents of the abomasum, small intestine and large intestine were examined for the recovery of helminths. The parasitological examination revealed eggs of the following groups of helminths: Strongyloidea, Strongyloides sp., Trichuris sp., and Moniezia sp. Also were found oocysts of Eimeria spp., cysts of Entamoeba ovis and Giardia duodenalis. The helminths identified from examining the contents were: Haemonchus contortus, Cooperia pectinata, Cooperia punctata, Trichostrongylus colubriformis, Moniezia expansa, Oesophagostomum sp. Skrjabinema ovis and Trichuris sp.O presente estudo investigou o parasitismo gastrintestinal por helmintos e protozoários em ovinos (Ovis aries da raça Santa Inês, no município de Lajes, Rio Grande do Norte. Mensalmente, entre abril de 2005 e agosto de 2007, foram coletadas amostras fecais de dois cordeiros traçadores no primeiro dia do experimento e realizada a necropsia desses animais no 44º dia. O total de cordeiros amostrados foi 64, mas apenas 62 foram necropsiados. As amostras fecais foram examinadas pela técnica de sedimentação espontânea em água. Os conteúdos do abomaso, intestino delgado e intestino grosso dos cordeiros necropsiados foram examinados para a recuperação dos helmintos. Os exames parasitológicos evidenciaram ovos dos seguintes grupos de helmintos: Strongyloidea, Strongyloides sp. , Trichuris sp., e Moniezia sp. Também foram encontrados oocistos de Eimeria spp., cistos de Entamoeba ovis e de Giardia duodenalis

Chondroectodermal dysplasia (Ellis van Creveld syndrome: A report of three cases with review of literature

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Kurian K

2007-01-01

Full Text Available Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio′s syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists.

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

Science.gov (United States)

Cavanagh, Julie A L; Tammen, Imke; Windsor, Peter A; Bateman, John F; Savarirayan, Ravi; Nicholas, Frank W; Raadsma, Herman W

2007-11-01

Bulldog dwarfism in Dexter cattle is one of the earliest single-locus disorders described in animals. Affected fetuses display extreme disproportionate dwarfism, reflecting abnormal cartilage development (chondrodysplasia). Typically, they die around the seventh month of gestation, precipitating a natural abortion. Heterozygotes show a milder form of dwarfism, most noticeably having shorter legs. Homozygosity mapping in candidate regions in a small Dexter pedigree suggested aggrecan (ACAN) as the most likely candidate gene. Mutation screening revealed a 4-bp insertion in exon 11 (2266_2267insGGCA) (called BD1 for diagnostic testing) and a second, rarer transition in exon 1 (-198C>T) (called BD2) that cosegregate with the disorder. In chondrocytes from cattle heterozygous for the insertion, mutant mRNA is subject to nonsense-mediated decay, showing only 8% of normal expression. Genotyping in Dexter families throughout the world shows a one-to-one correspondence between genotype and phenotype at this locus. The heterozygous and homozygous-affected Dexter cattle could prove invaluable as a model for human disorders caused by mutations in ACAN.

Essential role for the alpha 1 chain of type VIII collagen in zebrafish notochord formation.

Science.gov (United States)

Gansner, John M; Gitlin, Jonathan D

2008-12-01

Several zebrafish mutants identified in large-scale forward genetic screens exhibit notochord distortion. We now report the cloning and further characterization of one such mutant, gulliver(m208) (gul(m208)). The notochord defect in gul(m208) mutants is exacerbated under conditions of copper depletion or lysyl oxidase cuproenzyme inhibition that are without a notochord effect on wild-type embryos. The gul(m208) phenotype results from a missense mutation in the gene encoding Col8a1, a lysyl oxidase substrate, and morpholino knockdown of col8a1 recapitulates the notochord distortion observed in gul(m208) mutants. Of interest, the amino acid mutated in gul(m208) Col8a1 is highly conserved, and the equivalent substitution in a closely related human protein, COL10A1, causes Schmid metaphyseal chondrodysplasia. Taken together, the data identify a new protein essential for notochord morphogenesis, extend our understanding of gene-nutrient interactions in early development, and suggest that human mutations in COL8A1 may cause structural birth defects. (c) 2008 Wiley-Liss, Inc.

FGFR3 mutation causes abnormal membranous ossification in achondroplasia.

Science.gov (United States)

Di Rocco, Federico; Biosse Duplan, Martin; Heuzé, Yann; Kaci, Nabil; Komla-Ebri, Davide; Munnich, Arnold; Mugniery, Emilie; Benoist-Lasselin, Catherine; Legeai-Mallet, Laurence

2014-06-01

FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due to an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of the mutation on membranous ossification are unknown. Fgfr3(Y367C/+) mice mimicking ACH and craniofacial analysis of patients with ACH and FGFR3-related craniosynostoses provide an opportunity to address this issue. Studying the calvaria and skull base, we observed abnormal cartilage and premature fusion of the synchondroses leading to modifications of foramen magnum shape and size in Fgfr3(Y367C/+) mice, ACH and FGFR3-related craniosynostoses patients. Partial premature fusion of the coronal sutures and non-ossified gaps in frontal bones were also present in Fgfr3(Y367C/+) mice and ACH patients. Our data provide strong support that not only endochondral ossification but also membranous ossification is severely affected in ACH. Demonstration of the impact of FGFR3 mutations on craniofacial development should initiate novel pharmacological and surgical therapeutic approaches.

Achondroplasia: Development, pathogenesis, and therapy.

Science.gov (United States)

Ornitz, David M; Legeai-Mallet, Laurence

2017-04-01

Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). FGFR3 is expressed in chondrocytes and mature osteoblasts where it functions to regulate bone growth. Analysis of the mutations in FGFR3 revealed increased signaling through a combination of mechanisms that include stabilization of the receptor, enhanced dimerization, and enhanced tyrosine kinase activity. Paradoxically, increased FGFR3 signaling profoundly suppresses proliferation and maturation of growth plate chondrocytes resulting in decreased growth plate size, reduced trabecular bone volume, and resulting decreased bone elongation. In this review, we discuss the molecular mechanisms that regulate growth plate chondrocytes, the pathogenesis of Ach, and therapeutic approaches that are being evaluated to improve endochondral bone growth in people with Ach and related conditions. Developmental Dynamics 246:291-309, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Meiotic behavior of Adesmia DC. (Leguminosae-Faboideae species native to Rio Grande do Sul, Brazil

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Coelho Liliana Gressler May

1998-01-01

Full Text Available Meiotic behavior in Adesmia DC. is described for the first time. The study encompassed twelve populations of seven Adesmia DC. species native to Rio Grande do Sul, Brazil. Populations with 2n = 2x = 20 are A. securigerifolia 9615, A. riograndensis 9590 (subnudae, A. latifolia 1568, 1775, 15025, A. bicolor JB-UFSM, A. incana var. incana 9636, 10288, A. punctata var. hilariana 6885, 10812, and A. tristis 10757. A. incana var. incana 9637 is a tetraploid with 2n = 4x = 40. The material was stained with 1% acetic orcein. The meiotic behavior of the populations studied was considered normal. The meiotic index (MI and the estimates of pollen grain viability were above 95%, except for A. latifolia 1568 (MI = 89%. The present data indicate that these plants are meiotically stable and potentially fertile, apparently with no problems for use in programs of selection, crossing and viable seed production.

Faunistic analyses of grasshoppers (Orthoptera, Acridoidea in a florest fragment near the Uruguay River, Chapecó, Santa Catarina, Brazil

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Maria Kátia Matiotti da Costa

2005-11-01

Full Text Available The objective of the work was to describe the grasshopper community (Orthoptera and Acridoidea through the analysis of the fauna, in the Lajeado Monte Alegre region, on the bank of the Uruguay River, in the town of Chapecó, Santa Catarina. The collections were carried out on weekly basis, from October 2001 to September 2002, with the use of ground traps, buttnets, insect umbrellas and collections from leaves. The rates of abundance, frequency, constancy, dominance and diversity were measured. In total, 713 acridoids were collected, corresponding to 18 species, 17 genera, and 3 families. From the Acrididae family 13 species were sampled: Abracris flavolienata, Allotruxalis strigata, Amblytropidia sola, Amblytropidia sp., Cylindrotettix chacoensis, Dichroplus misionensis, Eurotettix lilloanus, Metaleptea brevicornis adspersa, Orphulella punctata, Parorphula graminea, Rhammatocerus brunneri, Ronderosia bergi and Schistocerca flavofasciata. From the Romaleidae family, 4 species: Staleochlora viridicata, Chromacris speciosa, Zoniopoda tarsata and Xyleus discoideus. From the Tridactylidae family, 2 unidentified nymphs were collected. The dominant species was A. strigata.

Comparative research on protein production capacity and freeze resistance capability of duckweed in nitrogen-phosphorus wastewater purification%浮萍净化氮磷污水的蛋白质生产能力及耐寒能力比较研究

Institute of Scientific and Technical Information of China (English)

沈根祥; 黄丽华; 钱晓雍; 徐介乐; 吴健; 唐浩

2006-01-01

以3种国外优化浮萍为参照,通过对比试验,对5种长江三角洲地区本地浮萍在净化氮磷污水过程中的蛋白质生产能力及耐寒能力进行了比较研究.结果表明:本地少根紫萍和3种国外浮萍,无论在蛋白质生产能力上,还是在浮萍植物体(干基)蛋白质含量上,均具有相当高的水平.2种本地浮萍(稀脉浮萍和少根紫萍)和2种国外优质浮萍(Lemna minor 8627和Spirodella punctata 7776)能在低温条件下成活生长,具有良好的耐寒能力.

Babesia, Theileria, and Hepatozoon species in ticks infesting animal hosts in Romania.

Science.gov (United States)

Andersson, Martin O; Tolf, Conny; Tamba, Paula; Stefanache, Mircea; Radbea, Gabriel; Rubel, Franz; Waldenström, Jonas; Dobler, Gerhard; Chițimia-Dobler, Lidia

2017-08-01

Babesia spp., Theileria spp., and Hepatozoon spp. are tick-transmitted apicomplexan parasites that cause several important diseases in animals. To increase current knowledge about the diversity of tick-transmitted pathogens in Romania, we investigated the occurrence of Babesia spp., Theileria spp., and Hepatozoon spp. in a wide range of tick species infesting animal hosts. We collected 852 ticks from 10 different animal species from 20 counties in Romania. The assessment was based on detection of parasite DNA by PCR. Five different apicomplexan parasite species were detected; among them three different species of Babesia: B. canis, B. microti, and B. ovis. Hepatozoon canis was the most frequently detected parasite, found predominately in Ixodes ricinus ticks collected from domestic dogs. It was also detected in I. ricinus collected from goat, fox, and cat. Furthermore, H. canis was found in Haemaphysalis punctata and Haemaphysalis concinna ticks. In addition, Theileria buffeli was detected in Rhipicephalus bursa ticks collected from cattle.

Non-destructive NIR-FT-Raman analyses in practice. Part I. Analyses of plants and historic textiles.

Science.gov (United States)

Andreev, G N; Schrader, B; Schulz, H; Fuchs, R; Popov, S; Handjieva, N

2001-12-01

Non-destructive analysis of natural substances in plants as well as of old dyed textiles by Raman spectroscopy has not been possible using conventional techniques. Exciting lines from the visible part of the spectrum produced photochemical and thermal decomposition of the objects as well as strong fluorescence. Using Nd:YAG laser excitation at 1,064 nm together with a special sample arrangement and interferometric recording, various polyacetylenes in Aethusa cynapium and in chamomile (Chamomilla recutita) and the main valuable substances in gentian species (Gentiana lutea and G. punctata), curcuma roots (Curcuma longa), cinnamon (Cinnamomum zeylanicum), fennel (Foeniculum vulgare), clove (Caryophyllus aromaticus), and ginger (Zingiber officinale) were analyzed non-destructively and discussed in comparison with the corresponding pure standard compounds. We further analyzed non-destructively the FT Raman spectra of collections of historical textiles and lakes used for dyeing. It is possible to distinguish the main dye component non-destructively by using Raman bands.

Gastrointestinal parasites of sheep, municipality of Lajes, Rio Grande do Norte, Brazil.

Science.gov (United States)

de Souza, Maria de Fátima; Pimentel-Neto, Manoel; da Silva, Rízia Maria; Farias, Albeísa Cleyse Batista; Guimarães, Marcos Pezzi

2012-01-01

This study investigated the gastrointestinal parasitism by helminths and protozoa in sheep (Ovis aries) Santa Inês breed, municipality of Lajes, Rio Grande do Norte. Monthly, from April 2005 to August 2007, stool samples were collected from two tracer lambs in the first day of the experiment and performed a necropsy of these animals in 44th day. A total of 64 lambs were sampled, but only 62 lambs were slaughtered. The fecal samples were examined by sedimentation in water. The contents of the abomasum, small intestine and large intestine were examined for the recovery of helminths. The parasitological examination revealed eggs of the following groups of helminths: Strongyloidea, Strongyloides sp., Trichuris sp., and Moniezia sp. Also were found oocysts of Eimeria spp., cysts of Entamoeba ovis and Giardia duodenalis. The helminths identified from examining the contents were: Haemonchus contortus, Cooperia pectinata, Cooperia punctata, Trichostrongylus colubriformis, Moniezia expansa, Oesophagostomum sp. Skrjabinema ovis and Trichuris sp.

Zinc oxide and silver nanoparticles influence the antioxidative status in a higher aquatic plant, Spirodela punctata

CSIR Research Space (South Africa)

Thwala, Melusi

2012-09-01

Full Text Available The authors present evidence of free radical activity and resultant anti-oxidative defence in Spirodela plants after exposure to 0.01-1000 mg/L of ZnO and Ag nanoparticles (NPs) over 96-h and 14-d. The quantification of reactive nitrogen...

Nutrient recovery from swine waste and protein biomass production using duckweed ponds (Landoltia punctata): southern Brazil.

Science.gov (United States)

Mohedano, R A; Velho, V F; Costa, R H R; Hofmann, S M; Belli Filho, P

2012-01-01

Brazil is one of the most important countries in pork production worldwide, ranking third. This activity has an important role in the national economic scenario. However, the fast growth of this activity has caused major environmental impacts, especially in developing countries. The large amount of nitrogen and phosphorus compounds found in pig manure has caused ecological imbalances, with eutrophication of major river basins in the producing regions. Moreover, much of the pig production in developing countries occurs on small farms, and therefore causes diffuse pollution. Therefore, duckweed pond have been successfully used in the swine waste polishing, generating further a biomass with high protein content. The present study evaluated the efficiency of two full scale duckweed ponds for the polishing of a small pig farm effluent, biomass yield and crude protein (CP) content. Duckweed pond series received the effluent from a biodigester-storage pond, with a flow rate of 1 m(3)/day (chemical oxygen demand rate = 186 kg/ha day) produced by 300 animals. After 1 year a great improvement of effluent quality was observed, with removal of 96% of total Kjeldahl nitrogen (TKN) and 89% of total phosphorus (TP), on average. Nitrogen removal rate is one of the highest ever found (4.4 g TKN/m(2) day). Also, the dissolved oxygen rose from 0.0 to 3.0 mg/L. The two ponds produced together over 13 tons of fresh biomass (90.5% moisture), with 35% of CP content, which represents a productivity of 24 tonsCP/ha year. Due to the high rate of nutrient removal, and also the high protein biomass production, duckweed ponds revealed, under the presented conditions, a great potential for the polishing and valorization of swine waste. Nevertheless, this technology should be better exploited to improve the sustainability of small pig farms in order to minimize the impacts of this activity on the environment.

Zinc oxide and silver nanoparticles influence the antioxidative status in a higher aquatic plant, Spirodela punctata

CSIR Research Space (South Africa)

Thwala, Melusi

2012-09-01

Full Text Available during the 14-d exposure. The biochemical anti-oxidative status of the plant specimens were investigated using quantitative analysis of total antioxidant capacity, peroxidase and activity of catalase and superoxide dismutase. The anti-oxidative defence...

Revision of the genus Odocnemis Allard, 1876 (Coleoptera: Tenebrionidae: Helopini) from Turkey, the Caucasus and Iran with observations on feeding habits.

Science.gov (United States)

Nabozhenko, Maxim; Keskin, Bekir

2016-12-01

A revision of the genus Odocnemis of Turkey, the Caucasus and Iran is presented. Thirty species and four subspecies are distributed in this territory. The following 20 new species and subspecies are described: O. dichroa sp. n., O. allardi sp. n., O. merkli sp. n., O. seducta sp. n., O. aegaeica sp. n., O. euritopica sp. n., O. subtuberculigera sp. n., O. subtuberculigera thracica subsp. n., O. erseni sp. n., O. molecularica sp. n., O. shokhini sp. n., O. inornata sp. n., O. altimontana sp. n., O. amanosica sp. n., O. cordiformis sp. n., O. kakunini sp. n. O. evestigata sp. n., O. torosica sp. n., O. torosica subangulata subsp. n., Odocnemis hakkariensis sp. n. The name of the genus is feminine, therefore all species names are transformed from masculine to feminine. Almost all new taxa are described from Turkey; O. amanosica sp. n. is additionally recorded from Syria, O. allardi sp. n.-from Armenia, Azerbaijan (Nakhchivan) and Iran, O. kakunini sp. n. from Iran. New synonymies are established: Odocnemis anatolica (Pic, 1899) = Stenomax korbi Reitter 1902: 219, syn.n.; Odocnemis recticollis (Allard, 1877) = Stenomax kurdistanus Reitter, 1902: 221, syn.n.; Odocnemis punctata Allard, 1876 = Cylindronotus (Odocnemis) pseudoclarus Reitter, 1922, syn.n. The following lectotypes are designated: Helops (Odocnemis) anatolicus Pic, 1899, Helops (Stenomax) seriegranatus Seidlitz, 1896, Cylindronotus (Odocnemis) opertus Reitter, 1922, Stenomax recticollis Allard, 1876, Odocnemis punctata Allard, 1876, Helops (Odocnemis) protinus Reitter in Bodemeyer, 1900. Holotypes and paratypes of all other Turkish species of Odocnemis are studied. Two new combinations are established: Odocnemis gloriosa (Faldermann, 1837), comb. n. (from Nalassus Mulsant, 1854) and Odocnemis terminasianae (Nabozhenko, 2011), comb. n. (from Armenohelops Nabozhenko, 2002). Five species O. bosphoranus (Allard, 1876), O. amasiae (Seidlitz, 1896), O. scutellatus (Reitter, 1902), O. fundator (Reitter, 1908

Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.

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Mullan, Lorna A; Mularczyk, Ewa J; Kung, Louise H; Forouhan, Mitra; Wragg, Jordan Ma; Goodacre, Royston; Bateman, John F; Swanton, Eileithyia; Briggs, Michael D; Boot-Handford, Raymond P

2017-10-02

The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in human cell culture. Depending on the nature of the mutation, CBZ application stimulated proteolysis of misfolded collagen X by either autophagy or proteasomal degradation, thereby reducing intracellular accumulation of mutant collagen. In MCDS mice expressing the Col10a1.pN617K mutation, CBZ reduced the MCDS-associated expansion of the growth plate hypertrophic zone, attenuated enhanced expression of ER stress markers such as Bip and Atf4, increased bone growth, and reduced skeletal dysplasia. CBZ produced these beneficial effects by reducing the MCDS-associated abnormalities in hypertrophic chondrocyte differentiation. Stimulation of intracellular proteolysis using CBZ treatment may therefore be a clinically viable way of treating the ER stress-associated dwarfism MCDS.

Phenotypic characteristics of hydrocephalus in stillborn Friesian foals.

Science.gov (United States)

Sipma, K D; Cornillie, P; Saulez, M N; Stout, T A E; Voorhout, G; Back, W

2013-11-01

Hydrocephalus is uncommon in horses. However, in recent years, it has become clear that the prevalence of hydrocephalus is greater in Friesian horses than in other breeds probably due to their limited gene pool. Before identification of candidate genes that predispose to the development of hydrocephalus in Friesian horses can be pursued, an in-depth, phenotypic, pathological description of the condition in Friesians would be of great benefit. Our study aimed to characterize the morphology of hydrocephalus in Friesian horses, to support further investigation of the genetic background of this condition. Four stillborn Friesian foals with hydrocephalus were examined macroscopically and microscopically and compared with 2 normal stillborn Friesian foals without hydrocephalus. In all clinical cases, tetraventricular and venous dilatations were observed, together with malformation of the petrosal bone and, as a result, narrowing of the jugular foramen. These observations suggest a communicative hydrocephalus with a diminished absorption of cerebrospinal fluid into the systemic circulation at the venous sinuses due to a distorted, nonfunctional jugular foramen. This type of hydrocephalus is also recognized in humans and dogs and has been linked genetically to chondrodysplasia; this has already been recognized in dwarfism, which is another monogenetic defect in Friesian horses.

Ultrastructure of inclusion bodies in annulus cells in the degenerating human intervertebral disc.

Science.gov (United States)

Gruber, H E; Hanley, E N

2009-06-01

The rough endoplasmic reticulum (rER) of the cell has an architectural editing function that checks whether protein structure and three-dimensional assembly have occurred properly prior to export of newly synthesized material out of the cell. If these have been faulty, the material is retained within the rER as an inclusion body. Inclusion bodies have been identified previously in chondrocytes and osteoblasts in chondrodysplasias and osteogenesis imperfecta. Inclusion bodies in intervertebral disc cells, however, have only recently been recognized. Our objectives were to use transmission electron microscopy to analyze more fully inclusion bodies in the annulus pulposus and to study the extracellular matrix (ECM) surrounding cells containing inclusion bodies. ECM frequently encapsulated cells with inclusion bodies, and commonly contained prominent banded aggregates of Type VI collagen. Inclusion body material had several morphologies, including relatively smooth, homogeneous material, or a rougher, less homogeneous feature. Such findings expand our knowledge of the fine structure of the human disc cell and ECM during disc degeneration, and indicate the potential utility of ultrastructural identification of discs with intracellular inclusion bodies as a screening method for molecular studies directed toward identification of defective gene products in degenerating discs.

Precise localization of multiple epiphyseal dysplasia and pseudoachondroplasia mutations by genetic and physical mapping of chromosome 19

Energy Technology Data Exchange (ETDEWEB)

Knowlton, R.G.; Cekleniak, J.A. [Jefferson Medical College, Philadelphia, PA (United States); Cohn, D.H. [Cedars-Sinai Medical Center, Los Angeles, CA (United States)] [and others

1994-09-01

Multiple epiphyseal dysplasia (EDM1), a dominantly inherited chondrodysplasia resulting in peripheral joint deformities and premature osteoarthritis, and pseudoachondroplasia (PSACH), a more severe disorder associated with short-limbed dwarfism, have recently been mapped to the pericentromeric region of chromosome 19. Chondrocytes from some PSACH patients accumulate lamellar deposits in the endoplasmic reticulum that are immunologically cross-reactive with aggrecan. However, neither aggrecan nor any known candidate gene maps to the EDM1/PSACH region of chromosome 19. Genetic linkage mapping in two lage families had placed the disease locus between D19S215 (19p12) and D19S212 (19p13.1), an interval of about 3.5 Mb. With at least five potentially informative cross-overs within this interval, recombination mapping at greater resolution was undertaken. From cosmids assigned to the region by fluorescence in situ hybridization and contig assembly, dinucleotide repeat tracts were identified for use as polymorphic genetic markers. Linkage data from three new dinucleotide repeat markers from cosmids mapped between D19S212 and D19S215 limit the EDM1/PSACH locus to an interval spanning approximately 2 Mb.

Matrilin-3 Chondrodysplasia Mutations Cause Attenuated Chondrogenesis, Premature Hypertrophy and Aberrant Response to TGF-β in Chondroprogenitor Cells

OpenAIRE

Chathuraka T. Jayasuriya; Fiona H. Zhou; Ming Pei; Zhengke Wang; Nicholas J. Lemme; Paul Haines; Qian Chen

2014-01-01

Studies have shown that mutations in the matrilin-3 gene (MATN3) are associated with multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD). We tested whether MATN3 mutations affect the differentiation of chondroprogenitor and/or mesenchymal stem cells, which are precursors to chondrocytes. ATDC5 chondroprogenitors stably expressing wild-type (WT) MATN3 underwent spontaneous chondrogenesis. Expression of chondrogenic markers collagen II and aggrecan was inhibited in c...

Current Status of Tick Fauna in North of Iran

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P Shayan

2007-04-01

Full Text Available Background: The distribution and ecological preferences of ticks of domestic animals in North of Iran were studied four times a year from 2002 to 2005. Methods: A total of 1720 tick specimens were collected from cattle, sheep and goats from different localities of Caspian Sea areas consisting of Guilan, Mazandaran, Golestan and Ardebil provinces, Iran. Results: Fourteen tick species were identified as Hyalomma anatolicum anatolicum (5.23%, H.marginatum (20.34%, H.detritum (3.48%, Haemaphysalis punctata (12.79%, Haem. Parva (0.58%, Haem.concinna (0.58%, Haem.choldokovsky (6.97%, Ixodes ricinus (2.32%, Rhipicephalus sanguineus (19.76%, Rh.bursa (4.65%, Boophilus annulatus (9.88%, Dermacentor niveus (6.39%, D. marginatus (1.74% and Ornithodoros lahorensis (5.23%. Both Dermacentor and Ornithodoros were found only in Ardebil with cold climatic conditions and high altitude. The only ticks, which were found in forest area, were Boophilus annulatus and Ixodes ricinus. Conclusion: The veterinary and public health importance of the above species should be emphasized.

Effects of light and temperature on duckweed photosynthesis

Energy Technology Data Exchange (ETDEWEB)

Wedge, R M; Burris, J E

1982-06-01

Rates of photosynthesis of Lemna minor L. and Spirodela punctata, two aquatic angiosperms, were measured at different temperatures and light intensities. Photosynthesis was measured both as oxygen evolution and /sup 14/CO/sub 2/ fixation. At temperatures ranging from 15 to 35/sup 0/C, light saturation of photosynthetic O/sub 2/ evolution of Lemna occured from 300-600 ..mu..E m/sup -2/ s/sup -1/, while in Spirodela photosynthetic O/sub 2/ evolution was light saturated at 5600-1200 ..mu..E m/sup -2/ s/sup -1/. Photosynthetic O/sub 2/ evolution of both species was photoinhibited at light intensities greater than 1200 ..mu..E m/sup -2/ s/sup -1/. The optimal temperature for Lemna photosynthetic O/sub 2/ evolution was 30/sup 0/C, while the optimal temperatures for /sup 14/CO/sub 2/ fixation were from 20 to 30/sup 0/C. For Spirodela maximum photosynthetic O/sub 2/, evolution occurred at 35/sup 0/C, while maximum /sup 14/CO/sub 2/ fixation was at 30/sup 0/C.

Ectopic bone formation and chondrodysplasia in transgenic mice carrying the rat C3(1)/T{sub AG} fusion gene

Energy Technology Data Exchange (ETDEWEB)

Green, J.E.; Maroulakou, I.G.; Anver, M. [National Cancer Institute, Frederick, MD (United States)] [and others

1994-09-01

Transgenic mice expressing the SV40 large T-antigen (T{sup AG}) under the regultory control of the hormone-responsive rat C3(1) prostatein promoter develop unusual bone and cartilage lesions, as well as ectopic bone and cartilage formation. Two lines of transgenic animals have been propagated in which the expression of the transgene in chondrocytes results in a mild to moderate generalized disorganization of cartilage growth which appears to affect multiple tissues, including the trachea, ear pinna and articular cartilage. The epiphyseal plates are also affected with normal architecture of the zones of proliferation and maturation, but marked elongation of the zone of hypertrophy. Immunocytochemistry demonstrates that expression of T{sup AG} is limited to the zone of hypertropny in the epiphyseal plates, suggesting that the chondrocytes become hormone-responsive at this particular stage of differentiation. Normal mineralization and trabecular formation in long bone appears to occur. Ectopic bone and cartilage formation occurs in the foot pads of the fore- and hind- feet over the course of several months. This is preceded by proliferation of sweat gland epithelial cells followed by the appearance of nodules of cartilage and bone. The nodules are closely associated with proliferating epithelium but are not contiguous with bony structures normally found in the feet. The roles of BMP`s, growth factors, oncogenes and hormones in the development of these lesions will be presented. These transgenic animals may provide new insights into hormone-responsiveness of chondrocytes, as well as factors involved in the processes of bone and cartilage differentiation and growth. These transgenic animals may serve as a useful model for human heterotopic bone formation.

Eficácia anti-helmíntica comparativa da associação albendazole, levamisole e ivermectina à moxidectina em ovinos Comparative anthelmintic efficacy of the association albendazol, levamisol and ivermectin to moxidectin in sheep

Directory of Open Access Journals (Sweden)

Carolina Buzzulini

2007-06-01

Full Text Available Avaliou-se a eficácia anti-helmíntica da associação de albendazole 2,0%, cloridrato de levamisole 2,55% e ivermectina 0,08% comparativamente à moxidectina 1% em ovinos naturalmente infectados. Foram selecionados 24 ovinos para a composição de três grupos experimentais com oito animais cada: T1, ovinos tratados com a associação albendazole, levamisole e ivermectina, na dosagem de 1 mL 4 kg-1 de peso corporal; T2, ovinos tratados com moxidectina, na dosagem de 1 mL 50 kg-1 de peso corporal e T3, ovinos sem tratamento anti-helmíntico. Foram realizadas contagens de ovos por grama de fezes (OPG no primeiro, terceiro, quinto e sétimo dia após os tratamentos. No sétimo dia todos os ovinos foram necropsiados e todos os helmintos encontrados no trato gastrintestinal foram quantificados e identificados quanto ao gênero e à espécie. A associação dos diferentes princípios ativos foi 100% eficaz no combate às espécies Cooperia punctata, C. pectinata, C. spatulata, Trichostrongylus axei, Oesophagostomum columbianum, Trichuris ovis, C. curticei e Strongyloides papillosus e, a moxidectina eliminou as seis primeiras espécies citadas. Contra Haemonchus contortus a associação apresentou eficácia superior (93% à moxidectina (51,4%. Ambas formulações foram eficazes contra Trichostrongylus colubriformis. A associação medicamentosa utilizada constitui alternativa no controle das nematodioses ovinas.The anthelmintic efficacy of 2.0% albendazol, 2.55% levamisol chloridrate and 0.08% ivermectin formulation to 1% moxidectin in sheep naturally infected with gastrointestinal nematodes was compared. Twenty-four animals were selected by faecal egg counts (FEC means, composing three experimental groups with eight sheep each: T1, sheep treated with albendazol, levamisol and ivermectin association; T2, sheep treated with 1% moxidectin and T3, untreated group. FEC was estimated at 1st, 3rd, 5th and 7th day post-treatment. All animals were

Gafanhotos (Orthoptera, Acridoidea em áreas de cerrados e lavouras na Chapada dos Parecis, Estado de Mato Grosso, Brasil Grasshoppers (Orthoptera, Acridoidea in native savanna and crop areas in Chapada dos Parecis, Mato Grosso State, Brazil

Directory of Open Access Journals (Sweden)

Wanderlei Dias Guerra

2012-06-01

Full Text Available Gafanhotos (Orthoptera, Acridoidea em áreas de cerrados e lavouras na Chapada dos Parecis, Estado de Mato Grosso, Brasil. Foi determinada a composição e abundância de espécies de gafanhotos usando amostragem com rede entomológica durante 3 anos de estudo na Chapada dos Parecis, estado de Mato Grosso. O levantamento foi feito em áreas de lavouras e com vegetação ainda nativa (cerrados com, respectivamente, 56 e 59 locais inventariados em cada ambiente. Foram coletados 3.031 indivíduos de gafanhotos de 64 espécies distribuídas entre as famílias e subfamílias: Acrididae (49: Gomphocerinae (21, Ommatolampinae (10, Melanoplinae (6, Acridinae (4 Leptysminae (3, Copiocerinae (3, Proctolabinae (1 e Cyrtacanthacridinae (1; Romaleidae (1: Romaleinae (13 e Ommexechidae (1: Ommexechinae (2, além de 1550 ninfas. A diversidade de espécies foi maior no cerrado (61 do que nas lavouras (16, ocorrendo o inverso com relação à abundância onde as espécies Baeacris punctulatus (Thunberg, 1824 e Orphulella punctata (De Geer, 1773 predominaram representando 49,5% do total de indivíduos coletados em toda a Chapada dos Parecis e, juntas, somam 78,8% da abundância registrada nas áreas de lavouras e tem potencial de se tornarem pragas.Grasshoppers (Orthoptera, Acridoidea in native savanna and crop areas in Chapada dos Parecis, Mato Grosso State, Brazil. We determined the composition and abundance of grasshoppers using sweep net sampling during three years at the Parecis Plateau, State of Mato Grosso, Brazil. The survey was done in areas with crops and native vegetation (savanna with, respectively, 56 and 59 sites available in each environment. 3.031 individuals of grasshoppers were collected from 64 species distributed among the following families and subfamilies: Acrididae (49: Gomphocerinae (21, Ommatolampinae (10, Melanoplinae (6, Acridinae (4 Leptysminae (3, Copiocerinae (3, Proctolabinae (1 and Cyrtacanthacridinae (1; Romaleidae (1: Romaleinae

Prevalência de lesões cutâneas actínicas em pacientes com carcinoma basocelular do segmento cefálico: um estudo caso-controle Prevalence of actinic skin lesions in patients with basal cell carcinoma of the head: a case-control study

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Valquíria Pessoa Chinem

2012-04-01

Full Text Available OBJETIVO: Avaliar a preval��ncia de lesões cutâneas actínicas em portadores de carcinoma basocelular do segmento cefálico. MÉTODOS: Foi conduzido estudo tipo caso-controle. Os casos, constituídos por pacientes com carcinoma basocelular sólido, primário, menor que dois centímetros, no segmento cefálico; e controles, por pacientes com outras dermatoses. Foram analisadas variáveis constitucionais, comportamentais e lesões actínicas. RESULTADOS: Avaliaram-se 120 casos e 360 controles. Mílio facial (OR = 2,3, leucodermia puntacta de membros superiores (OR = 2,9 e cutis romboidalis nuchae (OR = 1,8 associaram-se à neoplasia independentemente das demais variáveis, sugerindo um fenótipo de risco. Houve ainda associação com fenótipos claros, genética familiar e exposição solar cumulativa. Queimadura solar, tabagismo e alcoolismo não foram identificados como fatores de risco. O uso de fotoprotetores não evidenciou proteção; porém, o grupo controle era composto por pacientes dermatológicos, aos quais são indicados fotoprotetores regularmente. CONCLUSÃO: Lesões actínicas foram mais prevalentes em portadores de carcinoma basocelular sólido do segmento cefálico que em controles, especialmente mílio, cutis romboidalis nuchae e leucodermia puntacta, independentemente dos demais fatores de risco conhecidos.OBJECTIVE: To evaluate the prevalence of actinic skin lesions in patients with basal cell carcinoma of the head. METHODS: A case-control study was carried out. Cases were patients with primary, solid basal cell carcinoma of the head, less than two centimeters in diameter; and as controls, patients with other dermatoses. Constitutional and behavioral variables were analyzed, as well as actinic lesions. RESULTS: One hundred twenty cases and 360 controls were evaluated. Facial milia (OR = 2.3, leukoderma punctata of the upper limbs (OR = 2.9, and cutis rhomboidalis nuchae (OR = 1.8 were associated with neoplasms regardless

Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice

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Philip E. Lapinski

2013-11-01

In mice, induced global disruption of the Ptpn11 gene, which encodes the SHP-2 tyrosine phosphatase, results in severe skeletal abnormalities. To understand the extent to which skeletal abnormalities can be attributed to perturbation of SHP-2 function in bone-forming osteoblasts and chondrocytes, we generated mice in which disruption of Ptpn11 is restricted to mesenchymal stem cells (MSCs and their progeny, which include both cell types. MSC-lineage-specific SHP-2 knockout (MSC SHP-2 KO mice exhibited postnatal growth retardation, limb and chest deformity, and calvarial defects. These skeletal abnormalities were associated with an absence of mature osteoblasts and massive chondrodysplasia with a vast increase in the number of terminally differentiated hypertrophic chondrocytes in affected bones. Activation of mitogen activated protein kinases (MAPKs and protein kinase B (PKB; also known as AKT was impaired in bone-forming cells of MSC SHP-2 KO mice, which provides an explanation for the skeletal defects that developed. These findings reveal a cell-autonomous role for SHP-2 in bone-forming cells in mice in the regulation of skeletal development. The results add to our understanding of the pathophysiology of skeletal abnormalities observed in humans with germline mutations in the PTPN11 gene (e.g. Noonan syndrome and LEOPARD syndrome.

Osteoarthritis: new insights in animal models.

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Longo, Umile Giuseppe; Loppini, Mattia; Fumo, Caterina; Rizzello, Giacomo; Khan, Wasim Sardar; Maffulli, Nicola; Denaro, Vincenzo

2012-01-01

Osteoarthritis (OA) is the most frequent and symptomatic health problem in the middle-aged and elderly population, with over one-half of all people over the age of 65 showing radiographic changes in painful knees. The aim of the present study was to perform an overview on the available animal models used in the research field on the OA. Discrepancies between the animal models and the human disease are present. As regards human 'idiopathic' OA, with late onset and slow progression, it is perhaps wise not to be overly enthusiastic about animal models that show severe chondrodysplasia and very early OA. Advantage by using genetically engineered mouse models, in comparison with other surgically induced models, is that molecular etiology is known. Find potential molecular markers for the onset of the disease and pay attention to the role of gender and environmental factors should be very helpful in the study of mice that acquire premature OA. Surgically induced destabilization of joint is the most widely used induction method. These models allow the temporal control of disease induction and follow predictable progression of the disease. In animals, ACL transection and meniscectomy show a speed of onset and severity of disease higher than in humans after same injury.

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype

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Ali Al Kaissi

2014-01-01

Full Text Available We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.

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Al Kaissi, Ali; Chehida, Farid Ben; Ganger, Rudolf; Grill, Franz

2014-01-01

We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage) strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype

OpenAIRE

Ali Al Kaissi; Farid Ben Chehida; Rudolf Ganger; Franz Grill

2014-01-01

We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (con...

A molecular survey of Theileria and Babesia parasites in cattle, with a note on the distribution of ticks in Tunisia.

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M'ghirbi, Y; Hurtado, A; Barandika, J F; Brandika, J; Khlif, K; Ketata, Z; Bouattour, A

2008-07-01

Between October and November 2006, a total of 278 bovine blood samples were examined, and 104 (37.4%) were positive for piroplasms by microscopy. A reverse line blot hybridisation with polymerase chain reaction detected Theileria annulata, T. buffeli, Babesia bovis and B. bigemina in cattle accounting for 48.6% of positive samples. The most frequently found species was T. buffeli, which was present in 39.2% of the samples. T. annulata was found in 48 samples (17.3%). Babesia infections were less frequently detected: B. bovis was found in 6.8% of the samples and B. bigemina in 4.3%. Mixed infections were detected in 45 samples, accounting for seven different combinations of species. Seven Ixodid tick species (Boophilus annulatus, Ixodes ricinus, Hyalomma marginatum, Hyalomma excavatum, Hyalomma detritum, Haemaphysalis punctata and Haemaphysalis sulcata) were collected from examined cattle in the 23 visited farms. I. ricinus was the dominant species (36%), mainly collected in the humid zone, while it seemed to be very rare in the semi-arid zone (where only 15 specimens were collected), whereas B. annulatus was the most commonly collected species in the sub-humid area (68.5% of ticks collected in this zone).

[EPIZOOTOLOGICAL AND EPIDEMIOLOGICAL CHARACTERISTICS OF TULAREMIA IN GEORGIA].

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Elashvili, E; Velijanashvili, I

2017-02-01

The appropriate data as well as archival materials about the spread of Tularemia disease have been studied over of period from 1991-2014 in Georgia in order to evaluate the current situation in Kartli lowland foci as well as the main reasons of disease agent circulation and maintenance in the study area. 54 (24.6%) out of 220 suspicious cases were laboratory confirmed during the study period. Most of confirmed cases - 32 (59.26%) have been detected in Shida Kartli focus among the old population during the outbreaks in the winter period. Tularemia causative agent has been isolated from the environmental object on 87 occasions, 50 (57.5%) of them have been found in Shida Kartli and 8 (9.2%) - in Kvemo Kartli lowland. Existence of rodents and ixodes ticks in Kartli lowland greatly supports keeping up Tularemia foci in this area. The common vectors and kind of storage of disease are considered to be different species of ixodes ticks especially D. marginatus, Haem. Punctata, Haem. Sulcata. It should be noted that reduction of intensity of Tularemia agent partially should be linked to the reduction frequency of planned and intentional researches during the last period of time.

Hallazgos oftalmológicos en pacientes con VIH/SIDA en la era pre TARGA

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Bety Yañez

2007-07-01

Full Text Available Se realizó un estudio prospectivo en 821 pacientes con diagnóstico de VIH-SIDA evaluados en la consulta externa de los servicios de Medicina Tropical y Oftalmología del Hospital Nacional Dos de Mayo (Lima, Perú como parte de la evaluación inicial para ingresar al protocolo de TARGA, entre abril de 2004 a julio de 2006. El rango de edad fue de 16- 73 años (media 36, 74% fueron varones, 114(13,9% habían recibido antirretrovirales. Más de la mitad (62% refirieron síntomas oculares, el más frecuente fue la disminución de la agudeza visual (38,4%. Se encontraron lesiones en el segmento anterior en 21,7%, queratopatía punctata superficial, microangiopatía conjuntival, conjuntivitis y cataratas fueron las más frecuentes. Se evidenciaron lesiones en el segmento posterior en 11,9% de los casos, microangiopatía vascular en 47 (5,7% y retinitis por citomegalovirus en 31 (3,8%, que fue la principal causa de ceguera en este grupo de pacientes (14/19 ojos.

Induced-fit Mechanism for Prolyl Endopeptidase

Energy Technology Data Exchange (ETDEWEB)

Li, Min; Chen, Changqing; Davies, David R.; Chiu, Thang K. (NIH); (LSU); (Chinese Aca. Sci.)

2010-11-15

Prolyl peptidases cleave proteins at proline residues and are of importance for cancer, neurological function, and type II diabetes. Prolyl endopeptidase (PEP) cleaves neuropeptides and is a drug target for neuropsychiatric diseases such as post-traumatic stress disorder, depression, and schizophrenia. Previous structural analyses showing little differences between native and substrate-bound structures have suggested a lock-and-key catalytic mechanism. We now directly demonstrate from seven structures of Aeromonus punctata PEP that the mechanism is instead induced fit: the native enzyme exists in a conformationally flexible opened state with a large interdomain opening between the {beta}-propeller and {alpha}/{beta}-hydrolase domains; addition of substrate to preformed native crystals induces a large scale conformational change into a closed state with induced-fit adjustments of the active site, and inhibition of this conformational change prevents substrate binding. Absolute sequence conservation among 28 orthologs of residues at the active site and critical residues at the interdomain interface indicates that this mechanism is conserved in all PEPs. This finding has immediate implications for the use of conformationally targeted drug design to improve specificity of inhibition against this family of proline-specific serine proteases.

Functional neuroanatomy of the rhinophore of Archidoris pseudoargus

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Wertz, Adrian; Rössler, Wolfgang; Obermayer, Malu; Bickmeyer, Ulf

2007-06-01

For sea slugs, chemosensory information represents an important sensory modality, because optical and acoustical information are limited. In the present study, we focussed on the neuroanatomy of the rhinophores and processing of olfactory stimuli in the rhinophore ganglion of Archidoris pseudoargus, belonging to the order of Nudibranchia in the subclass of Opisthobranchia. Histological techniques, fluorescent markers, and immunohistochemistry were used to analyse neuroanatomical features of the rhinophore. A large ganglion and a prominent central lymphatic channel are surrounded by longitudinal muscles. Many serotonin-immunoreactive (IR) processes were found around the centre and between the ganglion and the highly folded lobes of the rhinophore, but serotonin-IR cell bodies were absent inside the rhinophore. In contrast to the conditions recently found in Aplysia punctata, we found no evidence for the presence of olfactory glomeruli within the rhinophore. Using calcium-imaging techniques with Fura II as a calcium indicator, we found differential calcium responses in various regions within the ganglion to stimulation of the rhinophore with different amino acids. The lack of glomeruli in the rhinophores induces functional questions about processing of chemical information in the rhinophore.

HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia.

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Ota, Sara; Zhou, Zi-Qiang; Romero, Megan P; Yang, Guang; Hurlin, Peter J

2016-10-01

Mutations that cause increased and/or inappropriate activation of FGFR3 are responsible for a collection of short-limbed chondrodysplasias. These mutations can alter receptor trafficking and enhance receptor stability, leading to increased receptor accumulation and activity. Here, we show that wildtype and mutant activated forms of FGFR3 increase expression of the cytoplasmic deacetylase HDAC6 (Histone Deacetylase 6) and that FGFR3 accumulation is compromised in cells lacking HDAC6 or following treatment of fibroblasts or chondrocytes with small molecule inhibitors of HDAC6. The reduced accumulation of FGFR3 was linked to increased FGFR3 degradation that occurred through a lysosome-dependent mechanism. Using a mouse model of Thanatophoric Dysplasia Type II (TDII) we show that both HDAC6 deletion and treatment with the small molecule HDAC6 inhibitor tubacin reduced FGFR3 accumulation in the growth plate and improved endochondral bone growth. Defective endochondral growth in TDII is associated with reduced proliferation and poor hypertrophic differentiation and the improved bone growth was associated with increased chondrocyte proliferation and expansion of the differentiation compartment within the growth plate. These findings further define the mechanisms that control FGFR3 accumulation and contribute to skeletal pathology caused by mutations in FGFR3. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Anthelmintic resistance in a dairy cattle farm in the State of Minas Gerais Resistência anti-helmíntica em uma propriedade de bovinos leiteiros em Minas Gerais

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Maria do Socorro Veloso Leite Ferraz da Costa

2011-06-01

Full Text Available Eighty-four half-blood Gir × Holstein (F1 calves aged six months who were naturally infected by gastrointestinal helminths and maintained in rotational grazing received different anthelmintic treatments. Group A received anthelmintics according to the usual management in the property (eight treatments, seven including a macrocyclic lactone agent. Group B received strategic treatment (ivermectin 3.15% at the beginning and at the end of the rainy period. Eggs per gram of feces (EPG counts and genus of larvae from fecal cultures were determined on a monthly basis from April 2002 to December 2003. There was no significant reduction (p > 0.05 in EPG counts in any group after anthelminthic treatment, and the larvae in fecal cultures observed were Cooperia, Haemonchus, Oesophagostomum and a few Trichostrongylus. Cooperia was the most prevalent genus in the first four months of the experiment and Haemonchus in the following months. In 2003, tracer calves were introduced onto the pastures monthly and they showed high nematode burden many times throughout the year, and Cooperia punctata and Haemonchus contortus were the main species identified. The results suggest that there is anthelminthic resistance in this farm, mainly to macrocyclic lactones, and the development of immunity by crossbred animals was vital to reduce nematode burden.Oitenta e quatro bezerras meio sangue Gir × holandês (F1 com seis meses de idade, naturalmente infectadas por helmintos gastrintestinais e mantidas em pastejo rotacionado receberam diferentes tratamentos anti-helmínticos. O grupo A recebeu anti-helmínticos segundo manejo empregado na propriedade (oito tratamentos, sete com produtos à base de lactonas macrocíclicas. O grupo B recebeu tratamento estratégico (ivermectina 3,15% no inicio e final de período chuvoso. Mensalmente, no período de abril de 2002 a dezembro de 2003, foram realizadas contagens de ovos por grama de fezes (OPG e coproculturas. Não houve redu

Seasonal distribution of gastrointestinal nematode infections in sheep in a semiarid region, northeastern Brazil

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Maria de Fátima de Souza

Full Text Available The objective of this study was to determine the seasonal distribution and gastrointestinal nematode parasite load in crossbred Santa Inês tracer lambs, and to correlate the rainfall during the study period with occurrences of parasitic infections. Sixty-four male tracer lambs between the ages of four and eight months were used in the study. Two tracer lambs were inserted into the herd every 28 days to determine the pattern of infective larvae available in the environment. Variation in the fecal egg count (FEC of nematodes was observed at the study site, with many samples containing undetectable parasite loads during the dry season. The larvae identified in coprocultures wereHaemonchus sp., Trichostrongylus sp.,Cooperia sp., Strongyloides sp. andOesophagostomum sp. The nematodes recovered at necropsy were Haemonchus contortus, Trichostrongylus colubriformis, Cooperia punctata, C. pectinata, Trichuris sp.,Oesophagostomum sp. and Skrajabinema ovis. The total number of larvae and the total number of immature and adult forms recovered from the tracers showed seasonal distributions that significantly correlated with the amount of rainfall received that month (p value ≅ 0.000 in all cases . The species H. contortus was predominant in the herd and should be considered to be main pathogenic nematode species in these hosts under these conditions.

Influence of air pollution on the epiphytic lichen vegetation and bark properties of deciduous trees in the Copenhagen area

Energy Technology Data Exchange (ETDEWEB)

Johnsen, I; Soechting, U

1973-01-01

The epiphytic lichen vegetation of trees in the Copenhagen area was mapped, and the pH, total sulfur content and buffer capacity of its substratum were measured. The SO/sub 2/ air pollution during two consecutive winters was mapped. The SO/sub 2/ isopleths coincide well with the inner distribution limits of the lichens, indicating specific critical SO/sub 2/ levels for the different species. The critical level for Buellia punctata (Hoffm.) Massal. was 90-110 ..mu..g m/sup -3/ for Xanthoria parientina (L.) Th. Fr. 80-90 ..mu..g m/sup -3/, for Lecanora subfusca coll. 70-80 ..mu..g m/sup -3/ and for Physcia pulverulenta (Schreb.) Hampe 40 ..mu..g m/sup -3/. These species were considered useful as indicators for biological evaluation of SO/sub 2/ pollution in the investigation area. The bark properties changed as follows on approaching the city center: the average pH decreased from 5.0 to 3.0 whilst the average sulfur content in percent dry weight increased from 0.25% to 0.45%. The buffer capacity of bark was higher both in the city center and the rural districts than in the intervening area at the periphery of the city. 26 references, 15 figures, 2 tables.

Revisión del género de mariposas Forsterinaria Gray, 1973 (Lepidoptera: Nymphalidae, Satyrinae

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Carlos Peña

2013-05-01

Full Text Available Se presenta una revisión taxonómica de las mariposas satírinas neotropicales incluidas en el género Forsterinaria Gray, 1973, comprendiendo una discusión de la clasificación y distribución geográfica de sus especies componentes, ilustraciones de los adultos de todos los taxones y de sus genitalias masculinas, así como descripciones de 12 especies y dos subespecies nuevas: Forsterinaria antje sp. n., F. coipa sp. n., F. enjuerma sp. n., F. falcata sp. n., F. guaniloi sp. n., F. itatiaia sp. n., F. pallida sp. n., F. pallida aurita ssp. n., F. pichita sp. n., F. pilosa sp. n., F. punctata sp. n., F. pyrczi sp. n., F. rotunda sp. n. y F. rustica glendita ssp. n. Euptychia stelligera Butler y E. fabiana Butler son considerados sinónimos (syn. n. de Forsterinaria quantius (Godart. Euptychia magdalena Hayward y E. pseudonecys Strand son considerados sinónimos (syn. n. de F. inornata (C. Felder & R. Felder y F. necys (Godart, respectivamente. Se designa lectotipos para 14 taxones nominales. Se reconoce un total de 23 especies. Se ofrece una clave para la identificación de todos los taxones.

Seasonal distribution of gastrointestinal nematode infections in sheep in a semiarid region, northeastern Brazil.

Science.gov (United States)

de Souza, Maria de Fátima; Pimentel-Neto, Manoel; de Pinho, André Luís Santos; da Silva, Rízia Maria; Farias, Albeísa Cleyse Batista; Guimarães, Marcos Pezzi

2013-01-01

The objective of this study was to determine the seasonal distribution and gastrointestinal nematode parasite load in crossbred Santa Inês tracer lambs, and to correlate the rainfall during the study period with occurrences of parasitic infections. Sixty-four male tracer lambs between the ages of four and eight months were used in the study. Two tracer lambs were inserted into the herd every 28 days to determine the pattern of infective larvae available in the environment. Variation in the fecal egg count (FEC) of nematodes was observed at the study site, with many samples containing undetectable parasite loads during the dry season. The larvae identified in coprocultures were Haemonchus sp., Trichostrongylus sp., Cooperia sp., Strongyloides sp. and Oesophagostomum sp. The nematodes recovered at necropsy were Haemonchus contortus, Trichostrongylus colubriformis, Cooperia punctata, C. pectinata, Trichuris sp., Oesophagostomum sp. and Skrajabinema ovis. The total number of larvae and the total number of immature and adult forms recovered from the tracers showed seasonal distributions that significantly correlated with the amount of rainfall received that month (p value ≅ 0.000 in all cases ). The species H. contortus was predominant in the herd and should be considered to be main pathogenic nematode species in these hosts under these conditions.

Rare and Endangered Geophyte Plant Species in Serpentine of Kosovo

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Naim Berisha

2014-12-01

Full Text Available Our study documents information on rarity, geographical distribution, taxonomy and conservation status of 11 geophyte species in serpentine soils of Kosovo, already included in the Red Book of Vascular Flora of Kosovo. Kosovo’s serpentine vegetation represents a diversity that yet has not been sufficiently explored. Large serpentine complexes are found in the northern Kosovo but also southern part of the country is rich in serpentines, therefore in endemics. Serpentine rocks and soils are characterized by low level of principal plant nutrients (N, P, K, Ca and exceptionally high levels of Mg and Fe. Serpentines play particular importance for flora of the country due to their richness in endemic plant species. The following 11 plant species have been studied: Aristolochia merxmuelleri, Colchicum hungaricum, Crocus flavus, Crocus kosaninii, Epimedium alpinum, Gentiana punctata, Gladiolus illyricus, Lilium albanicum, Paeonia peregrina, Tulipa gesneriana and Tulipa kosovarica. Five out of eleven studied geophytes fall within Critically Endangered IUCN based threat category and five out of eleven are local endemics. Aristolochia merxmuelleri and Tulipa kosovarica are steno-endemic plant species that are found exclusively in serpentine soils. Information in our database should prove to be valuable to efforts in ecology, floristics, biosystematics, conservation and land management.

Synopsis of the pelidnotine scarabs (Coleoptera, Scarabaeidae, Rutelinae, Rutelini and annotated catalog of the species and subspecies

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Matthew R. Moore

2017-04-01

Full Text Available The pelidnotine scarabs (Scarabaeidae: Rutelinae: Rutelini are a speciose, paraphyletic assemblage of beetles that includes spectacular metallic species (“jewel scarabs” as well as species that are ecologically important as herbivores, pollinators, and bioindicators. These beetles suffer from a complicated nomenclatural history, due primarily to 20th century taxonomic and nomenclatural errors. We review the taxonomic history of the pelidnotine scarabs, present a provisional key to genera with overviews of all genera, and synthesize a catalog of all taxa with synonyms, distributional data, type specimen information, and 107 images of exemplar species. As a result of our research, the pelidnotine leaf chafers (a paraphyletic group include 27 (26 extant and 1 extinct genera and 420 valid species and subspecies (419 extant and 1 extinct. Our research makes biodiversity research on this group tractable and accessible, thus setting the stage for future studies that address evolutionary and ecological trends. Based on our research, 1 new species is described, 1 new generic synonym and 12 new species synonyms are proposed, 11 new lectotypes and 1 new neotype are designated, many new or revised nomenclatural combinations, and many unavailable names are presented. The following taxonomic changes are made: New generic synonym: The genus Heteropelidnota Ohaus, 1912 is a new junior synonym of Pelidnota MacLeay, 1819. New species synonyms: Plusiotis adelaida pavonacea Casey, 1915 is a syn. n. of Chrysina adelaida (Hope, 1841; Odontognathus gounellei Ohaus, 1908 is a revised synonym of Pelidnota ebenina (Blanchard, 1842; Pelidnota francoisgenieri Moore & Jameson, 2013 is a syn. n. of Pelidnota punctata (Linnaeus, 1758; Pelidnota genieri Soula, 2009 is a syn. n. of Pelidnota punctata (Linnaeus, 1758; Pelidnota lutea (Olivier, 1758 is a revised synonym of Pelidnota punctata (Linnaeus, 1758; Pelidnota (Pelidnota texensis Casey, 1915 is a revised synonym of

Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1

DEFF Research Database (Denmark)

Agerholm, Jørgen Steen; Menzi, Fiona; McEvoy, Fintan

2016-01-01

was predicted to affect splicing as it altered the conserved splice donor sequence GT at the 5’-end of COL2A1 intron 36, which was changed to AT. All five available cases carried the mutant allele in heterozygous state and all five dams were homozygous wild type. The sire VH Cadiz Captivo was shown...

Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child

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Cresio Alves

2013-01-01

Full Text Available Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints, lameness and frequent falls. A radiological study revealed metaphyseal chondrodysplasia. A complete blood cell count showed leukopenia (leukocytes: 3.1-3.5 x 103/µL, neutropenia (segmented neutrophils: 15-22%, but normal hemoglobin, hematocrit and platelet count. A molecular study revealed biallelic mutations in the Shwachman-Bodian-Diamond Syndrome gene (183-184TA-CT K62X in exon 2 and a 258+2T-C transition confirming the diagnosis of Shwachman-Diamond Syndrome. A non-pathologic, silent nucleotide A to G transition at position 201 was also found in heterozygosis in the Shwachman-Bodian-Diamond Syndrome gene. This is the first report to describe a Brazilian child with molecular diagnosis of Shwachman-Diamond Syndrome, a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, intermittent or persistent neutropenia and skeletal changes. Other characteristics include immune system, hepatic and cardiac changes and predisposition to leukemia. Recurrent bacterial, viral and fungal infections are common. The possibility of Shwachman-Diamond Syndrome should be kept in mind when investigating children with a diagnosis of cystic fibrosis and normal sweat tests.

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

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Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christèle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A.; Resh, Marilyn D.; Antonarakis, Stylianos E.; Nef, Serge

2014-01-01

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation occurred in the conserved membrane bound O-acyltransferase (MBOAT) domain and experimentally disrupted the ability of HHAT to palmitoylate Hh proteins such as DHH and SHH. Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. In the developing testis, HHAT is not required for Sertoli cell commitment but plays a role in proper testis cord formation and the differentiation of fetal Leydig cells. Altogether, these results shed new light on the mechanisms of action of Hh proteins. Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. PMID:24784881

Nocturnal activity by the primarily diurnal Central American agouti (Dasyprocta punctata) in relation to environmental conditions, resource abundance and predation risk

NARCIS (Netherlands)

Lambert, T.D.; Kays, R.W.; Jansen, P.A.; Aliaga-Rosse, E.; Wikelski, M.

2009-01-01

An animal's fitness is in part based on its ability to manage the inherent risks (foraging costs, predation, exposure to disease) with the benefits (resource gain, access to mates, social interactions) of activity (Abrams 1991, Altizer et al. 2003, Lima & Bednekoff 1999, Rubenstein & Hohmann

Application of a continuously stirred tank bioreactor (CSTR) for bioremediation of hydrocarbon-rich industrial wastewater effluents

International Nuclear Information System (INIS)

Gargouri, Boutheina; Karray, Fatma; Mhiri, Najla; Aloui, Fathi; Sayadi, Sami

2011-01-01

A continuously stirred tank bioreactor (CSTR) was used to optimize feasible and reliable bioprocess system in order to treat hydrocarbon-rich industrial wastewaters. A successful bioremediation was developed by an efficient acclimatized microbial consortium. After an experimental period of 225 days, the process was shown to be highly efficient in decontaminating the wastewater. The performance of the bioaugmented reactor was demonstrated by the reduction of COD rates up to 95%. The residual total petroleum hydrocarbon (TPH) decreased from 320 mg TPH l -1 to 8 mg TPH l -1 . Analysis using gas chromatography-mass spectrometry (GC-MS) identified 26 hydrocarbons. The use of the mixed cultures demonstrated high degradation performance for hydrocarbons range n-alkanes (C10-C35). Six microbial isolates from the CSTR were characterized and species identification was confirmed by sequencing the 16S rRNA genes. The partial 16S rRNA gene sequences demonstrated that 5 strains were closely related to Aeromonas punctata (Aeromonas caviae), Bacillus cereus, Ochrobactrum intermedium, Stenotrophomonas maltophilia and Rhodococcus sp. The 6th isolate was affiliated to genera Achromobacter. Besides, the treated wastewater could be considered as non toxic according to the phytotoxicity test since the germination index of Lepidium sativum ranged between 57 and 95%. The treatment provided satisfactory results and presents a feasible technology for the treatment of hydrocarbon-rich wastewater from petrochemical industries and petroleum refineries.

Application of a continuously stirred tank bioreactor (CSTR) for bioremediation of hydrocarbon-rich industrial wastewater effluents

Energy Technology Data Exchange (ETDEWEB)

Gargouri, Boutheina; Karray, Fatma; Mhiri, Najla; Aloui, Fathi [Laboratoire des Bioprocedes Environnementaux, Pole d' Excellence Regional AUF-LBPE, Centre de Biotechnologie de Sfax, Universite de Sfax, BP 1117, 3018 Sfax (Tunisia); Sayadi, Sami, E-mail: sami.sayadi@cbs.rnrt.tn [Laboratoire des Bioprocedes Environnementaux, Pole d' Excellence Regional AUF-LBPE, Centre de Biotechnologie de Sfax, Universite de Sfax, BP 1117, 3018 Sfax (Tunisia)

2011-05-15

A continuously stirred tank bioreactor (CSTR) was used to optimize feasible and reliable bioprocess system in order to treat hydrocarbon-rich industrial wastewaters. A successful bioremediation was developed by an efficient acclimatized microbial consortium. After an experimental period of 225 days, the process was shown to be highly efficient in decontaminating the wastewater. The performance of the bioaugmented reactor was demonstrated by the reduction of COD rates up to 95%. The residual total petroleum hydrocarbon (TPH) decreased from 320 mg TPH l{sup -1} to 8 mg TPH l{sup -1}. Analysis using gas chromatography-mass spectrometry (GC-MS) identified 26 hydrocarbons. The use of the mixed cultures demonstrated high degradation performance for hydrocarbons range n-alkanes (C10-C35). Six microbial isolates from the CSTR were characterized and species identification was confirmed by sequencing the 16S rRNA genes. The partial 16S rRNA gene sequences demonstrated that 5 strains were closely related to Aeromonas punctata (Aeromonas caviae), Bacillus cereus, Ochrobactrum intermedium, Stenotrophomonas maltophilia and Rhodococcus sp. The 6th isolate was affiliated to genera Achromobacter. Besides, the treated wastewater could be considered as non toxic according to the phytotoxicity test since the germination index of Lepidium sativum ranged between 57 and 95%. The treatment provided satisfactory results and presents a feasible technology for the treatment of hydrocarbon-rich wastewater from petrochemical industries and petroleum refineries.

The Complete Chloroplast Genome of Wild Rice (Oryza minuta) and Its Comparison to Related Species.

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Asaf, Sajjad; Waqas, Muhammad; Khan, Abdul L; Khan, Muhammad A; Kang, Sang-Mo; Imran, Qari M; Shahzad, Raheem; Bilal, Saqib; Yun, Byung-Wook; Lee, In-Jung

2017-01-01

Oryza minuta , a tetraploid wild relative of cultivated rice (family Poaceae), possesses a BBCC genome and contains genes that confer resistance to bacterial blight (BB) and white-backed (WBPH) and brown (BPH) plant hoppers. Based on the importance of this wild species, this study aimed to understand the phylogenetic relationships of O. minuta with other Oryza species through an in-depth analysis of the composition and diversity of the chloroplast (cp) genome. The analysis revealed a cp genome size of 135,094 bp with a typical quadripartite structure and consisting of a pair of inverted repeats separated by small and large single copies, 139 representative genes, and 419 randomly distributed microsatellites. The genomic organization, gene order, GC content and codon usage are similar to those of typical angiosperm cp genomes. Approximately 30 forward, 28 tandem and 20 palindromic repeats were detected in the O . minuta cp genome. Comparison of the complete O. minuta cp genome with another eleven Oryza species showed a high degree of sequence similarity and relatively high divergence of intergenic spacers. Phylogenetic analyses were conducted based on the complete genome sequence, 65 shared genes and matK gene showed same topologies and O. minuta forms a single clade with parental O. punctata . Thus, the complete O . minuta cp genome provides interesting insights and valuable information that can be used to identify related species and reconstruct its phylogeny.

Ticks (Acari: Ixodidae of livestock and their seasonal activities, northwest of Iran

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Zahra Ramezani

2014-09-01

Full Text Available Objective: To identify the ticks (Acari: Ixodidae of livestock and their seasonal activities, in northwest of Iran, including the combination of two of the geographical regions of Iran (Caspian and mountain plateau where the majority of the domestic ruminants in Iran exist. Methods: Fifteen villages of Meshkin-Shahr County were selected randomly from different areas of the county. The animal dwellings were visited and the whole body of sheep, cows, goats and dogs were examined for their probable infestation. Samples were identified at the level of species according to the standard morphological key. Results: In this study 1 208 specimen were collected and totally nine species (Dermacentor marginatus, Dermacentor niveus, Haemaphysalis erinacei, Haemaphysalis punctata, Hyalomma anatolicum, Hyalomma asiaticum, Hyalomma marginatum, Rhipicephalus bursa and Rhipicephalus sanguineus were identified in this study. Also 569 host including 40 cows, 450 sheep, 70 goats and 9 dogs were examined for infestation and among them 255 were infested which showed a 44% of infestation among examined livestock. The infestation rate among sheep (46% was higher than other hosts. The infestation rates among the rest of hosts were as: cows (40%, goat (37% and dogs (33%. Conclusions: The results of this study and other studies of the region showed the probability of the establishment and development of the burden of several tick-borne diseases.

Taxonomic notes on the afrotropical genera Hapalogenius Hagedorn, Hylesinopsis Eggers, and Rhopalopselion Hagedorn (Coleoptera, Curculionidae, Scolytinae

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Roger Beaver

2010-09-01

Full Text Available Taxonomic confusion among the afrotropical scolytine genera Hapalogenius Hagedorn, Hylesinopsis Eggers and Rhopalopselion Hagedorn, and their synonyms is discussed with especial reference to the catalogues of Wood and Bright (1992, and Alonso-Zarazaga and Lyal (2009. A key is given to separate the three genera recognised, and the species considered to be included in each genus are listed. Hylesinopsis is resurrected from synonymy with Hapalogenius, and shown not to be closely related to it. Chilodendron Schedl is considered to be a synonym of Hylesinopsis and not of Xylechinus Chapuis. The following new synonymy is proposed at specific level: Hapalogenius africanus (Eggers (= Hapalogenius lesnei Eggers, = Metahylesinus brincki Schedl; Hapalogenius fuscipennis (Chapuis (= Hapalogenius bimaculatus Eggers; Hapalogenius oblongus (Eggers (= Metahylesinus striatus Schedl; Hylesinopsis fasciata (Hagedorn (= Kissophagus punctatus Eggers; Phrixosoma niger Eggers (= Hapalogenius niger Schedl. The following species are returned to Hylesinopsis from Hapalogenius to which they were transferred by Alonso-Zarazaga and Lyal (2009: Hylesinopsis alluaudi (Lepesme, H. angolensis (Schedl, H. arabiae (Schedl, H. atra (Nunberg, H. confusa (Eggers, H. decellei (Nunberg, H. dubia Eggers, H. emarginata (Nunberg, H. fasciata (Hagedorn, H. ficus (Schedl, H. granulata (Lepesme, H. hirsuta (Schedl, H. joveri (Schedl, H. pauliani (Lepesme, H. punctata (Eggers, H. saudiarabiae (Schedl. The following new combination is given: Hylesinopsis leprosula (Browne from Cryphalus Erichson. New distributional records are given for some species.

SEM study of the oral cavity of members of the Kyphosidae and Girellidae (Pisces, Teleostei), with remarks on Crenidens (Sparidae), focusing on teeth and taste bud numbers and distribution.

Science.gov (United States)

Fishelson, Lev; Golani, Daniel; Diamant, Ariel

2014-04-01

The present study compares dental morphology and taste bud distribution in the oral cavity of four species of the teleost family Kyphosidae, five species of Girellidae and one species of Sparidae. Some of these species are predominantly herbivorous, while others are omnivorous with a high portion of invertebrates in their diets. All the kyphosids feature one row of frontal cusped teeth on their jaws and areas of miniature teeth on the tongue and palate; the girellid species feature 2-5 rows of denticulate teeth, and no teeth inside the oral cavity. The total number of taste buds in the oral cavity is higher in Girella spp. than in the kyphosids, and their number is species-specific, not correlated with fish size. For example, Kyphosus bigibbus of 500mm standard length bears 1780 taste buds, while the kyphosid Neoscorpis lithophilus of 80mm bears 3460. The maximum number of taste buds, 7900, is found in Girella punctata of 60mm standard length, and the minimum number, 1320, in Kyphosus vaigiensis of 175mm. The higher number of taste buds appears to characterize species that possess a more diversified diet. The present study contributes to our understanding of the differences between the two families Kyphosidae and Girellidae. In particular, it relates the eco-morphological adaptations to the type of diet consumed by the various species. Copyright © 2014. Published by Elsevier GmbH.

Additions to the knowledge of the land snails of Sabah (Malaysia, Borneo), including 48 new species

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Vermeulen, Jaap J.; Liew, Thor-Seng; Schilthuizen, Menno

2015-01-01

Abstract We present reviews of the Sabah (Malaysia, on the island of Borneo) species of the following problematical genera of land snails (Mollusca, Gastropoda): Acmella and Anaglyphula (Caenogastropoda: Assimineidae); Ditropopsis (Caenogastropoda: Cyclophoridae); Microcystina (Pulmonata: Ariophantidae); Philalanka and Thysanota (Pulmonata: Endodontidae); Kaliella, Rahula, (Pulmonata: Euconulidae); Trochomorpha and Geotrochus (Pulmonata: Trochomorphidae). Next to this, we describe new species in previously revised genera, such as Diplommatina (Diplommatinidae); Georissa (Hydrocenidae); as well as some new species of genera not revised previously, such as Japonia (Cyclophoridae); Durgella and Dyakia (Ariophantidae); Amphidromus, and Trachia (Camaenidae); Paralaoma (Punctidae); Curvella (Subulinidae). All descriptions are based on the morphology of the shells. We distinguish the following 48 new species: Acmella cyrtoglyphe, Acmella umbilicata, Acmella ovoidea, Acmella nana, Acmella subcancellata, Acmella striata, and Anaglyphula sauroderma (Assimineidae); Ditropopsis davisoni, Ditropopsis trachychilus, Ditropopsis constricta, Ditropopsis tyloacron, Ditropopsis cincta, and Japonia anceps (Cyclophoridae); Diplommatina bidentata and Diplommatina tylocheilos (Diplommatinidae); Georissa leucococca and Georissa nephrostoma (Hydrocenidae); Durgella densestriata, Dyakia chlorosoma, Microcystina microrhynchus, Microcystina callifera, Microcystina striatula, Microcystina planiuscula, and Microcystina physotrochus (Ariophantidae); Amphidromus psephos and Trachia serpentinitica (Camaenidae); Philalanka tambunanensis, Philalanka obscura, Philalanka anomphala, Philalanka rugulosa, and Philalanka malimgunung (Endodontidae); Kaliella eurytrochus, Kaliella sublaxa, Kaliella phacomorpha, Kaliella punctata, Kaliella microsoma, Rahula delopleura, (Euconulidae); Paralaoma angusta (Punctidae); Curvella hadrotes (Subulinidae); Trochomorpha trachus, Trochomorpha haptoderma, Trochomorpha

New xenophytes from La Palma (Canary Islands, Spain, with emphasis on naturalized and (potentially invasive species

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R. Otto

2016-07-01

Full Text Available Many years of field work in La Palma (western Canary Islands yielded a number of interesting new records of non-native vascular plants. Amaranthus blitoides, A. deflexus, Aptenia cordifolia, Argemone ochroleuca, Begonia schmidtiana, Capsella rubella, Cardamine hamiltonii, Centratherum punctatum, Cerastium fontanum subsp. vulgare, Chasmanthe floribunda (widely confused with C. aethiopica and Crocosmia xcrocosmiiflora in Macaronesia, Chenopodium probstii, Commelina latifolia var. latifolia, Dichondra micrantha, Dysphania anthelmintica, Epilobium ciliatum, Erigeron sumatrensis, Erodium neuradifolium, Eucalyptus globulus, Euphorbia hypericifolia, E. maculata, Gamochaeta antillana, Geranium pyrenaicum, Hedychium coronarium, Hypochaeris radicata, Kalanchoe daigremontiana, K. delagoensis, K. xhoughtonii, Kickxia commutata subsp. graeca, K. spuria subsp. integrifolia, Lactuca viminea subsp. ramosissima, Landoltia punctata, Malvastrum coromandelianum subsp. capitatospicatum, Oenothera jamesii, Orobanche nana, Oxalis latifolia, Papaver hybridum, P. setigerum, Pilea microphylla, Podranea ricasoliana, Polygonum arenastrum, Portulaca granulatostellulata, P. nicaraguensis, P. nitida, P. papillatostellulata, Rumex crispus subsp. crispus, R. pulcher subsp. pulcher, R. xpratensis, Sechium edule, Sida spinosa var. angustifolia, Silene nocturna, Solanum abutiloides, S. alatum, S. decipiens, Sonchus tenerrimus, Spergularia marina, Stellaria pallida, Tragopogon porrifolius subsp. australis, Tribulus terrestris and Trifolium repens subsp. repens are naturalized or (potentially invasive xenophytes, reported for the first time from either the Canary Islands or from La Palma. 37 additional, presumably ephemeral taxa are reported for the first time from the Canary Islands, whereas 56 ephemeral taxa are new for La Palma..

Retrospective study of hemoparasites in cattle in southern Italy by reverse line blot hybridization.

Science.gov (United States)

Ceci, Luigi; Iarussi, Fabrizio; Greco, Beatrice; Lacinio, Rosanna; Fornelli, Stefania; Carelli, Grazia

2014-06-01

Tick-borne diseases are widespread in tropical and temperate regions and are responsible for important economic losses in those areas. In order to assess the presence and prevalence of various pathogens in southern Italy, we retrospectively analyzed cattle blood samples collected for a previous study in 2000 using reverse line blot (RLB) hybridization. The study had been carried out in three regions of southern Italy on 1,500 randomly selected and apparently healthy adult cattle. RLB showed that 43.7% of the cattle were positive for nine different species of hemoparasites with either a single infection or a mixed infection. Theileria buffeli was the most common species found, being present in 27.3% of the animals, followed by Anaplasma marginale in 18.1%, Anaplasma centrale in 13.8%, Babesia bigemina and Anaplasma bovis in 4.2%, Anaplasma phagocytophilum in 1.7%, Babesia bovis in 1.6%, Babesia major in 0.2% and Babesia divergens in 0.1%. Complete blood counts showed different degrees of anemia in 363 animals (24.2%) and of these, 169 were RLB-positive for at least one pathogen. Among the ticks that were collected from the cattle, the following species were identified: Rhipicephalus bursa, Ixodes ricinus, Hyalomma marginatum, Boophilus annulatus, Dermacentor marginatus and Haemaphysalis (sulcata, parva, inermis and punctata). The results obtained confirmed the spread of endemic tick-borne pathogens in the regions studied.

Current insights into the molecular genetic basis of dwarfism in livestock.

Science.gov (United States)

Boegheim, Iris J M; Leegwater, Peter A J; van Lith, Hein A; Back, Willem

2017-06-01

Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR. Furthermore, mutations in IHH are the underlying cause of creeper achondroplasia in chickens. Belgian blue cattle display proportionate dwarfism caused by a mutation in RNF11, while American Angus cattle dwarfism is caused by a mutation in PRKG2. Mutations in EVC2 are associated with dwarfism in Japanese brown cattle and Tyrolean grey cattle. Fleckvieh dwarfism is caused by mutations in the GON4L gene. Mutations in COL10A1 and COL2A1 cause dwarfism in pigs and Holstein cattle, both associated with structural disruptions, while several mutations in ACAN are associated with bulldog-type dwarfism in Dexter cattle and dwarfism in American miniature horses. In other equine breeds, such as Shetland ponies and Friesian horses, dwarfism is caused by mutations in SHOX and B4GALT7. In Texel sheep, chondrodysplasia is associated with a deletion in SLC13A1. This review discusses genes known to be involved in these and other forms of dwarfism in livestock. Copyright © 2017 Elsevier Ltd. All rights reserved.

C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia.

Science.gov (United States)

Legeai-Mallet, Laurence

2016-01-01

Fibroblast growth factor receptor 3 (FGFR3) is an important regulator of bone formation. Gain-of-function mutations in the FGFR3 gene result in chondrodysplasias which include achondroplasia (ACH), the most common form of dwarfism, in which skull, appendicular and axial skeletons are affected. The skeletal phenotype of patients with ACH showed defective proliferation and differentiation of the chondrocytes in the growth plate cartilage. Both endochondral and membranous ossification processes are disrupted during development. At cellular level, Fgfr3 mutations induce increased phosphorylation of the tyrosine kinase receptor FGFR3, which correlate with an enhanced activation of its downstream signaling pathways. Potential therapeutic strategies have emerged for ACH. Several preclinical studies have been conducted such as the C-type natriuretic peptide (CNP) analog (BMN111), intermittent parathyroid hormone injections, soluble FGFR3 therapy, and meclozine and statin treatments. Among the putative targets to antagonize FGFR3 signaling, CNP (or BMN111) is one of the most promising strategies. BMN111 acts as a key regulator of longitudinal bone growth by downregulating the mitogen-activated protein kinase pathway, which is activated as a result of a FGFR3 gain-of-function mutation. Preclinical studies showed that BMN111 treatment led to a large improvement in skeletal parameters in Fgfr3Y367C/+ mice mimicking ACH. In 2014, a clinical trial (phase 2) of BMN111 in pediatric patients with ACH has started. This first clinical trial marks the first big step towards real treatment for these patients. © 2016 S. Karger AG, Basel.

Application of a continuously stirred tank bioreactor (CSTR) for bioremediation of hydrocarbon-rich industrial wastewater effluents.

Science.gov (United States)

Gargouri, Boutheina; Karray, Fatma; Mhiri, Najla; Aloui, Fathi; Sayadi, Sami

2011-05-15

A continuously stirred tank bioreactor (CSTR) was used to optimize feasible and reliable bioprocess system in order to treat hydrocarbon-rich industrial wastewaters. A successful bioremediation was developed by an efficient acclimatized microbial consortium. After an experimental period of 225 days, the process was shown to be highly efficient in decontaminating the wastewater. The performance of the bioaugmented reactor was demonstrated by the reduction of COD rates up to 95%. The residual total petroleum hydrocarbon (TPH) decreased from 320 mg TPH l(-1) to 8 mg TPH l(-1). Analysis using gas chromatography-mass spectrometry (GC-MS) identified 26 hydrocarbons. The use of the mixed cultures demonstrated high degradation performance for hydrocarbons range n-alkanes (C10-C35). Six microbial isolates from the CSTR were characterized and species identification was confirmed by sequencing the 16S rRNA genes. The partial 16S rRNA gene sequences demonstrated that 5 strains were closely related to Aeromonas punctata (Aeromonas caviae), Bacillus cereus, Ochrobactrum intermedium, Stenotrophomonas maltophilia and Rhodococcus sp. The 6th isolate was affiliated to genera Achromobacter. Besides, the treated wastewater could be considered as non toxic according to the phytotoxicity test since the germination index of Lepidium sativum ranged between 57 and 95%. The treatment provided satisfactory results and presents a feasible technology for the treatment of hydrocarbon-rich wastewater from petrochemical industries and petroleum refineries. Copyright © 2011 Elsevier B.V. All rights reserved.

Interspecific variation of total seed protein in wild rice germplasm using SDS-Page

International Nuclear Information System (INIS)

Shah, S.M.A.; Hidayat-ur-Rahman; Abbasi, F.M.; Ashiq, M.; Rabbani, A.M.; Khan, I.A.; Shinwari, Z.K.; Shah, Z.

2011-01-01

Variation in seed protein of 14 wild rice species (Oryza spp.) along with cultivated rice species (O. sativa) was studied using sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE) to assess genetic diversity in the rice germplasm. SDS bands were scored as present (1) or absent (0) for protein sample of each genotype. On the basis of cluster analysis, four clusters were identified at a similarity level of 0.85. O. nivara, O. rufipogon and O. sativa with AA genomes constituted the first cluster. The second cluster comprised O. punctata of BB genome and wild rice species of CC genome i.e., O. rhizomatis and O. officinalis. However, it also contained O. barthii and O. glumaepatula of AA genome. O. australiensis with EE genome, and O. latifolia, O. alta and O. grandiglumis having CCDD genomes comprised the third cluster. The fourth cluster consisted of wild rice species, O. brachyantha with EE genome along with two other wild rice species, O. longistaminata and O. meridionalis of AA genome. Overall, on the basis of total seed protein, the grouping pattern of rice genotypes was mostly compatible with their genome status. The results of the present work depicted considerable interspecific genetic variation in the investigated germplasm for total seed protein. Moreover, the results obtained in this study also suggest that analysis of seed protein can also provide a better understanding of genetic affinity of the germplasm. (author)

Identification and assessment of products of biodiversity with commercial potential in an organized group of producers in the area of influence of the Eco-Archeological Corridor in the South of Huila

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Martha Cecilia Vinasco Guzmán

2011-10-01

Full Text Available In Colombia, despite the wide biodiversity, efforts to find the products that may be involved in bio-activities have been inadequate and communities have not been involved with this proposal for economic and social development. To contribute to the development of these initiatives, an investigation over three groups belonging to the Mashiramo Corporation (Pitalito’s municipalities of San Agustin and Acevedo was carried out since February to September 2010, in seeking of biodiversity products with commercial potential in the south area of Huila, using the methodology of Market Analysis and Development (MA & D. In phase 1, 17 products were selected and classified into 4 groups: forest products and byproducts (species of orchids, native flowers, forest species and seeds, Zoo-breeding (lepidopteron fauna, wild and hydro biological resources, native foods (two legume species and products and services (ecotourism, environmental services and sale of handicrafts. In phase 2 (identification of products, markets and ways of marketing 5 products were analized: ecotourism, incipient handicrafts, black fish farming (Astroblepus chapmani, a nursery of native forest species and Guatin Zoo-breeding (Dasyprocta punctata. In the third phase, the plan was formulated for ecotourism business with emphasis on bird watching. It was concluded that methodological appropriation is needed by the beneficiary community to ensure the development of activities to learn to make decisions based on market data and not for creating false expectations that generate negative experiences in communities.

Glyceria maxima as new test species for the EU risk assessment for herbicides: a microcosm study.

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Mohr, S; Schott, J; Hoenemann, L; Feibicke, M

2015-03-01

In its recent guidance document on tiered risk assessment for plant protection products for aquatic organisms, the European Food Safety Authority (EFSA) proposed to use Glyceria maxima as monocotyledonous grass species for the testing of special herbicide groups. However, published toxicity data for this species is very limited and there is no test guideline for Glyceria sp. For this reason a microcosm study was conducted in order to gain experience on the degree of sensitivity of G. maxima to the herbicidal substances clodinafop-propargyl (grass herbicide) and fluroxypyr (auxin) in comparison to the already established test organism water milfoil Myriophyllum spicatum and the duckweed species Landoltia punctata. Five concentrations without replicates were tested for each test substance using 10 microcosms and three microcosms served as controls. The experiment was run for 8 weeks. Morphological endpoints were used to determine growth and EC50 values. The results show that M. spicatum was most sensitive to fluroxypyr (37 days EC50 for roots: 62 µg/L) and G. maxima most sensitive to clodinafop-propargyl (22 days EC50 for total shoot length: 48 µg/L) whereas the duckweed species was considerable less sensitive. Hence, G. maxima turns out to be a good candidate for testing grass specific herbicides, supporting its inclusion as an additional macrophyte test for the risk assessment of herbicides as proposed by the EFSA.

One particular Anaplasma phagocytophilum ecotype infects cattle in the Camargue, France.

Science.gov (United States)

Dugat, Thibaud; Leblond, Agnès; Keck, Nicolas; Lagrée, Anne-Claire; Desjardins, Isabelle; Joulié, Aurélien; Pradier, Sophie; Durand, Benoit; Boulouis, Henri-Jean; Haddad, Nadia

2017-08-02

Anaplasma phagocytophilum is a zoonotic tick-borne pathogen responsible for granulocytic anaplasmosis, a mild to a severe febrile disease that affects man and several animal species, including cows and horses. In Europe, I. ricinus is the only proven vector for this pathogen, but studies suggest that other tick genera and species could be involved in its transmission. Our objective was to assess the presence and genetic diversity of A. phagocytophilum in domestic animals and different tick species from the Camargue region, located in the south of France. A total of 140 ticks and blood samples from 998 cattle and 337 horses were collected in Camargue and tested for the presence of A. phagocytophilum DNA by msp2 quantitative real-time PCR. Molecular typing with four markers was performed on positive samples. Anaplasma phagocytophilum DNA was detected in 6/993 (0.6%) cows, 1/20 (5%) Haemaphysalis punctata, 1/57 (1.75%) Rhipicephalus pusillus, and was absent in horses (0%). All cattle A. phagocytophilum presented a profile identical to an A. phagocytophilum variant previously detected in Dermacentor marginatus, Hyalomma marginatum, and Rhipicephalus spp. in Camargue. Our results demonstrate that one particular A. phagocytophilum variant infects cattle in Camargue, where I. ricinus is supposed to be rare or even absent. Dermacentor marginatus, Rhipicephalus spp. and Hyalomma spp., and possibly other tick species could be involved in the transmission of this variant in this region.

The parasitic fauna of the European bison (Bison bonasus) (Linnaeus, 1758) and their impact on the conservation. Part 1. The summarising list of parasites noted.

Science.gov (United States)

Karbowiak, Grzegorz; Demiaszkiewicz, Aleksander W; Pyziel, Anna M; Wita, Irena; Moskwa, Bożena; Werszko, Joanna; Bień, Justyna; Goździk, Katarzyna; Lachowicz, Jacek; Cabaj, Władysław

2014-09-01

During the current century, 88 species of parasites have been recorded in Bison bonasus. These are 22 species of protozoa (Trypanosoma wrublewskii, T. theileri, Giardia sp., Sarcocystis cruzi, S. hirsuta, S. hominis, S. fusiformis, Neospora caninum, Toxoplasma gondii, Cryptosporidium sp., Eimeria cylindrica, E. subspherica, E. bovis, E. zuernii, E. canadensis, E. ellipsoidalis, E. alabamensis, E. bukidnonensis, E. auburnensis, E. pellita, E. brasiliensis, Babesia divergens), 4 trematodes species (Dicrocoelium dendriticum, Fasciola hepatica, Parafasciolopsis fasciolaemorpha, Paramphistomum cervi), 4 cestodes species (Taenia hydatigena larvae, Moniezia benedeni, M. expansa, Moniezia sp.), 43 nematodes species (Bunostomum trigonocephalum, B. phlebotomum, Chabertia ovina, Oesophagostomum radiatum, O. venulosum, Dictyocaulus filaria, D.viviparus, Nematodirella alcidis, Nematodirus europaeus, N. helvetianus, N. roscidus, N. filicollis, N. spathiger, Cooperia oncophora, C. pectinata, C. punctata, C. surnabada, Haemonchus contortus, Mazamastrongylus dagestanicus, Ostertagia lyrata, O. ostertagi, O. antipini, O. leptospicularis, O. kolchida, O. circumcincta, O. trifurcata, Spiculopteragia boehmi, S. mathevossiani, S. asymmetrica, Trichostrongylus axei, T. askivali, T. capricola, T. vitrinus, Ashworthius sidemi, Onchocerca lienalis, O. gutturosa, Setaria labiatopapillosa, Gongylonema pulchrum, Thelazia gulosa, T. skrjabini, T. rhodesi, Aonchotheca bilobata, Trichuris ovis), 7 mites (Demodex bisonianus, D. bovis, Demodex sp., Chorioptes bovis, Psoroptes equi, P. ovis, Sarcoptes scabiei), 4 Ixodidae ticks (Ixodes ricinus, I. persulcatus, I. hexagonus, Dermacentor reticulatus), 1 Mallophaga species (Bisonicola sedecimdecembrii), 1 Anoplura (Haematopinus eurysternus), and 2 Hippoboscidae flies (Lipoptena cervi, Melophagus ovinus). There are few monoxenous parasites, many typical for cattle and many newly acquired from Cervidae.

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

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Kobra Shiasi Arani

2015-01-01

Full Text Available Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and review articles and case reports. Results: Cartilage-Hair Hypoplasia characterized by short-limb dwarfism associated with metaphyseal chondrodysplasia. The inheritance is autosomal recessive. Other findings include hair hypoplasia, anemia, immunodeficiency, propensity to infections, gastrointestinal disorders (Hirschsprung disease, anal stenosis, esophageal atresia and malabsorption, defective spermatogenesis, increased risk of malignancies and higher rate of mortality. Immunodeficiency in cartilage-hair hypoplasia may be an isolated B-cell or isolated T-cell immunodeficiency or combined B and T-cell immunodeficiency; however, severe combined immunodeficiency is rare. There is no known treatment for hair hypoplasia. Growth hormone was used with conflicting results for short stature in children with Cartilage-hair hypoplasia. Skeletal problems must be managed with physiotherapy and appropriate orthopedic interventions. Hirschsprung disease, anal stenosis and esophageal atresia should be surgically corrected. Patients with severe hypoplastic anemia require repeated transfusions. Bone marrow transplantation may be required for patients with severe combined immunodeficiency or severe persistent hypoplastic anemia. Treatment with G-CSF is useful for neutropenia. Patients should be monitored closely for developing malignancy such as skin neoplasms, lymphomas and leukemias. Conclusions: Cartilage-hair hypoplasia is an important hereditary disease with different medical aspects. The high rate of consanguineous marriages in Iran necessitates considering CHH in any

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.

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Cai, Tao; Yang, Liu; Cai, Wanshi; Guo, Sen; Yu, Ping; Li, Jinchen; Hu, Xueyu; Yan, Ming; Shao, Qianzhi; Jin, Yan; Sun, Zhong Sheng; Luo, Zhuo-Jing

2015-06-30

Spondylolysis is a fracture in part of the vertebra with a reported prevalence of about 3-6% in the general population. Genetic etiology of this disorder remains unknown. The present study was aimed at identifying genomic mutations in patients with dysplastic spondylolysis as well as the potential pathogenesis of the abnormalities. Whole-exome sequencing and functional analysis were performed for patients with spondylolysis. We identified a novel heterozygous mutation (c.2286A > T; p.D673V) in the sulfate transporter gene SLC26A2 in five affected subjects of a Chinese family. Two additional mutations (e.g., c.1922A > G; p.H641R and g.18654T > C in the intron 1) in the gene were identified by screening a cohort of 30 unrelated patients with the disease. In situ hybridization analysis showed that SLC26A2 is abundantly expressed in the lumbosacral spine of the mouse embryo at day 14.5. Sulfate uptake activities in CHO cells transfected with mutant SLC26A2 were dramatically reduced compared with the wild type, confirming the pathogenicity of the two missense mutations. Further analysis of the gene-disease network revealed a convergent pathogenic network for the development of lumbosacral spine. To our knowledge, our findings provide the first identification of autosomal dominant SLC26A2 mutations in patients with dysplastic spondylolysis, suggesting a new clinical entity in the pathogenesis of chondrodysplasia involving lumbosacral spine. The analysis of the gene-disease network may shed new light on the study of patients with dysplastic spondylolysis and spondylolisthesis as well as high-risk individuals who are asymptomatic.

Advances in treatment of achondroplasia and osteoarthritis.

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Klag, Kendra A; Horton, William A

2016-04-15

Achondroplasia (ACH) is the prototype and most common of the human chondrodysplasias. It results from gain-of-function mutations that exaggerate the signal output of the fibroblast growth factor receptor 3 (FGFR3), a receptor tyrosine kinase that negatively regulates growth plate activity and linear bone growth. Several approaches to reduce FGFR3 signaling by blocking receptor activation or inhibiting downstream signals have been proposed. Five show promise in preclinical mouse studies. Two candidate therapies target the extracellular domain of FGFR3. The first is a decoy receptor that competes for activating ligands. The second is a synthetic blocking peptide that prevents ligands from binding and activating FGFR3. Two established drugs, statins and meclozine, improve growth of ACH mice. The strongest candidate therapy employs an analog of C-type natriuretic peptide (CNP), which antagonizes the mitogen-activated-protein (MAP) kinase pathway downstream of the FGFR3 receptor and may also act independently in the growth plate. Only the CNP analog has reached clinical trials. Preliminary results of Phase 2 studies show a substantial increase in growth rate of ACH children after six months of therapy with no serious adverse effects. A challenge for drug therapy in ACH is targeting agents to the avascular growth plate. The application of gene therapy in osteoarthritis offers insights because it faces similar technical obstacles. Major advances in gene therapy include the emergence of recombinant adeno-associated virus as the vector of choice, capsid engineering to target vectors to specific tissues, and development of methods to direct vectors to articular chondrocytes. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Morphological, Molecular Identification and Their Genetic Diversity of Aquatic Plant Duckweeds in Fujian Province%福建水生植物浮萍的形态学和分子系统学鉴定及遗传多样性研究

Institute of Scientific and Technical Information of China (English)

叶松建; 韩冰莹; 张家明

2017-01-01

119 duckweed germplasms were collected in 53 cities or countries in Fujian Province.They were classified into four genera:Landoltia,Spirodela,Wolffia,and Lemna using morphological analysis based on leaf size,root and leaf number.The chloroplast atpF-atpH internal sequence and the rpS16 intron sequence were obtained by PCR amplification and sequencing.Phylogenetic analysis indicated that these germplams belong to four species:Landoltia punctata,Spirodela polyrhiza,Wolffia globosa,and Lemna aequinoctialis.Genetic diversity analysis using DnaSP 5.10.01 software showed that germplasms had rich diversity,and rpS16 presented more diversity than atpF-atpH.The nucleotide diversity of atpF-atpH and rpS16 was 0.031 53 and 0.051 23,respectively;the distinct nucleotide number per kb was 20.374 and 44.675,respectively;the population mutation rate was 0.03640 and 0.051 64,respectively,and the haplotype diversity was 0.577 and 0.617,respectively.The haplotype numbers of atpF-atpH and rpS16 were 4,2,and 2,respectively.The genetic diversity in South Fujian was higher than that in North Fujian,and the nucleotide diversity,different nucleotide number and the population mutation rate of atpF-atpH in South Fujian were twice as high as those in the North.%在福建53个市县(区)收集获得119份浮萍种质.通过叶片大小、根系和叶脉数等形态性状初步鉴定为4个属:少根紫萍属(Landohia)、多根紫萍属(Spirodela)、无根萍属(Wolffia)、浮萍属(Lemna).利用叶绿体atpF-atpH间隔序列和rpS16内含子序列进行系统发育分析.结果表明,119份浮萍种质分别属于4个种Landoltia punctata,Spirodela polyrhiza,Wolffia globosa,Lemna aequinoctialis.利用DnaSP 5.10.01软件分析结果显示,福建浮萍种质存在丰富的遗传多样性,且rpS16比atp F-atpH多样性大,两者的核苷酸多态性指数分别为0.051 23和0.031 53,每kb平均核苷酸差异数为44.675和20.374,群体突变率分别为0.051 64和0.036 40,�

Gamma-ray and magnetic susceptibility correlation across a Frasnian carbonate platform and the search for "punctata" equivalents in stromatoporoid-coral limestone facies of Moravia

Czech Academy of Sciences Publication Activity Database

Geršl, M.; Hladil, Jindřich

2004-01-01

Roč. 48, č. 3 (2004), s. 283-292 ISSN 1641-7291 R&D Projects: GA AV ČR IAA3013209 Grant - others:FRVS(CZ) 580/2003 Keywords : Carbonate rocks * natural gamma-ray activity * high-resolution stratigraphy Subject RIV: DB - Geology ; Mineralogy http://www.pgi.gov.pl/pdf/gq_48_3_283.pdf

Neutral Sphingomyelinase (SMPD3) Deficiency Causes a Novel Form of Chondrodysplasia and Dwarfism That Is Rescued by Col2A1-Driven smpd3 Transgene Expression

OpenAIRE

Stoffel, Wilhelm; Jenke, Britta; Holz, Barbara; Binczek, Erika; Günter, Robert Heinz; Knifka, Jutta; Koebke, Jürgen; Niehoff, Anja

2007-01-01

Neutral sphingomyelinase SMPD3 (nSMase2), a sphingomyelin phosphodiesterase, resides in the Golgi apparatus and is ubiquitously expressed. Gene ablation of smpd3 causes a generalized prolongation of the cell cycle that leads to late embryonic and juvenile hypoplasia because of the SMPD3 deficiency in hypothalamic neurosecretory neurons. We show here that this novel form of combined pituitary hormone deficiency is characterized by the perturbation of the hypothalamus-pituitary growth axis, ass...

Moraea intermedia and M. vuvuzela (Iridaceae-Iridoideae, two new species from western South Africa, and some nomenclatural changes and range extensions in the genus

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P. Goldblatt

2010-07-01

Full Text Available We describe two new species in the largely sub-Saharan genus Moraea Mill. (± 205 spp. from its centre of diversity in the winter rainfall region of southern Africa. Moraea intermedia, from north-central Namaqualand near Springbok, is a member of the small section Tubiflorae (now eight species, remarkable in its growth habit with a long basal intemode. leaves clustered at the first aerial node, and Moraea-type stamens and style branches but subequal tepals with very short claws that clasp only the base of the filament column. Moraea vuvuzela. a member of series Galaxia of the Galaxia group of the genus (now 17 species, has deeply fringed stigma lobes, filaments free in the upper 1 mm, ± prostrate, lanceolate leaves and. remarkable for the series, dark brown to purple markings near the base of the tepal limbs. In the unusually variable M.fugax, currently with two subspecies, new collections of subsp. fugax co-occurring but on different soils with subsp.  filicaulis, cast doubt on their current treatment as members of the same species. We now favour recognition of the diminutive subsp.filicaulis as a separate species, M. filicaulis. In the M iripetala group we recommend recognition of the early blooming M. punctata, described in 1892 and later subsumed in M. iripetala but readily distinguished by the long inner  tepals broader in the midline and short, relatively broad, plane rather than channelled leaves. We also report small but significant range extensions for M. barkerae, M. macrocarpa and M. tricolor.

Nectar plant selection by the Karner blue butterfly (Lycaeides melissa samuelis) at the Indiana Dunes National Lakeshore

Science.gov (United States)

Grundel, Ralph; Pavlovic, Noel B.; Sulzman, Christina L.

2000-01-01

The Karner blue butterfly, Lycaeides melissa samuelis, is an endangered species residing in savanna and barrens habitats in the Midwest and Northeast United States. To improve our understanding of nectar plant selection patterns by the Karner blue, we examined nectar plant choices made by 146 butterflies. Within observation areas of 2-m radius butterflies usually chose the nectar species with the greatest total number of flowers or flowering heads. This suggests that the Karner blue is opportunistic in selecting nectar plants. However, certain nectar species, including Arabis lyrata, Coreopsis lanceolata, Melilotus alba and Rubus flagellaris, were selected in a significant majority of cases when other nectar species were available nearby. At least in the case of R. flagellaris, this preference was not directly related to the species' local flower abundance. In a significant majority of cases (77.5%) adult Karner blues selected nectar plant species with yellow or white flowers over species with other-colored flowers. Comparison of nectar plant selections at Indiana Dunes National Lakeshore to selections from Michigan and Wisconsin suggests that the Karner blue most frequently chooses a suite of nectar plant species that includes A. lyrata, C. lanceolata, Euphorbia corollata, M. alba, Monarda punctata, Potentilla simplex, Rubus spp., Solidago speciosa and, perhaps, Asclepias tuberosa and Helianthus divaricatus. This suite includes plant species that readily flower in the sun and others that readily flower in the shade, an important consideration since Karner blues often move across the sun-shade interface.

Vertical and temporal variation in phytoplankton assemblages correlated with environmental conditions in the Mundaú reservoir, semi-arid northeastern Brazil.

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Lira, G A S T; Moura, A N; Vilar, M C P; Cordeiro-Araújo, M K; Bittencourt-Oliveira, M C

2014-08-01

The goal of this study was to analyse the vertical structure of the phytoplankton community at the Mundaú reservoir, located in the semi-arid region of northeastern Brazil, and to correlate it to environmental conditions over two distinct seasons, dry and rainy. Samples were collected bimonthly at eight depths in the dry and rainy season for analyses of the physical and chemical variables of the water, as well as density, abundance, dominance, species diversity index and equitability of the community. Analysis of variance (ANOVA-two way) was used to analyse the vertical and seasonal differences, and Canonical Correspondence Analysis (CCA) was used to assess associations between phytoplankton and environmental variables Cylindrospermopsis raciborskii (Woloszynska) Seenaya and Subba Raju was the only dominant species and Geitlerinema amphibium (C. Agardh) Anagnostidis, Merismopedia punctata Meyen and Synedra rumpens Kützing. Others six taxa were abundant in at least one of the samples. Distinct vertical distribution patterns were observed for the abundant taxa between depths and seasons. The cyanobacteria, with the exception of C. raciborskii, showed similar seasonal patterns, with higher densities in the dry season. The CCA showed a strong correlation between the density of the phytoplanktonic species and abiotic variables. The vertical changes in abundant taxa revealed distinct patterns regulated by the variation in the environmental factors that were directly linked to seasonality, with the success of one or more species being dependent on their life strategies and ecological needs. The present study restates the importance of environmental and seasonal factors for phytoplankton composition and distribution in a freshwater tropical reservoir through a vertical gradient.

Detection of Babesia and Theileria species infection in cattle from Portugal using a reverse line blotting method.

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Silva, M G; Marques, P X; Oliva, A

2010-12-15

Babesiosis and Theileriosis are tick-borne diseases widespread in tropical and sub-tropical regions with high economic impact worldwide. In Portugal there are at least 4 tick vectors known to be competent for the transmission of Babesia and Theileria sp. identified: Rhipicephalus bursa, Rhipicephalus (Boophilus) annulatus, Ixodes ricinus and Haemaphysalis punctata. All these potential Babesia and Theileria tick vectors are widely distributed in Portugal, although they are predominant in the Southern region. In this study, 1104 cattle blood samples were randomly collected from Central and Southern regions of Portugal and analyzed by PCR-reverse line blotting (RLB) for the detection of Babesia and Theileria sp. Testing indicated that 74.7% of the bovines tested were positive for either Babesia and/or Theileria sp. In addition, five different apicomplexan species, namely, Theileria buffeli, Theileria annulata, Babesia divergens, Babesia bovis, and Babesia bigemina were detected by RLB among the bovines tested. T. buffeli was the most frequently found species, being present in 69.9% of the positive samples either as single infections (52.4%), or as mixed infections (17.5%). The Babesia specie most frequently found was B. divergens, detected in 4.2% of the infected bovines. Overall, infected bovines were found in all regions tested; however the highest number of infected bovines was observed in Évora district (96.2%) and in cattle from Limousin breeds (81.7%). The results indicate widespread Babesia and Theileria infections in Portuguese bovines, suggesting the need for improved control of ticks and tick-borne diseases. Copyright © 2010 Elsevier B.V. All rights reserved.

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

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Ponting Chris P

2011-02-01

Full Text Available Abstract Background Evc is essential for Indian Hedgehog (Hh signalling in the cartilage growth plate. The gene encoding Evc2 is in close proximity in divergent orientation to Evc and mutations in both human genes lead to the chondrodysplasia Ellis-van Creveld syndrome. Results Bioinformatic analysis reveals that the Evc and Evc2 genes arose through a duplication event early in metazoan evolution and were subsequently lost in arthropods and nematodes. Here we demonstrate that Evc2 is essential for Hh pathway activation in response to the Smo agonist purmorphamine. A yeast two-hybrid screen using Evc as bait identified Evc2 as an Evc binding partner and we confirmed the interaction by immunoprecipitation. We developed anti-Evc2 antibodies and show that Evc2 and Evc co-localize at the basal body and also on primary cilia. In transfected cells, basal body and cilia localization is observed when Evc and Evc2 constructs are co-transfected but not when either construct is transfected individually. We show that Evc and Evc2 are cilia transmembrane proteins, the C-terminus for both being intracellular and Evc2, but not Evc, having an extracellular portion. Furthermore, Evc is absent at the basal body in Evc2 null cells. Using Western blots of cytoplasmic and nuclear protein, we also demonstrate that full length Evc2 but not Evc, is located in the nucleus. Conclusions We demonstrate for the first time that Evc2 is a positive regulator of the Hh signalling pathway and that it is located at the basal body of primary cilia. We show that the presence of Evc and Evc2 at the basal body and cilia membrane is co-dependent. In addition, Evc2, but not Evc, is present in the cell nucleus suggesting movement of Evc2 between the cilium and nucleus.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Science.gov (United States)

Schmidts, Miriam; Arts, Heleen H; Bongers, Ernie M H F; Yap, Zhimin; Oud, Machteld M; Antony, Dinu; Duijkers, Lonneke; Emes, Richard D; Stalker, Jim; Yntema, Jan-Bart L; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris A; Roeleveld, Nel; Superti-Furga, Andrea; Kutkowska-Kazmierczak, Anna; Kamsteeg, Erik-Jan; Elçioğlu, Nursel; van Maarle, Merel C; Graul-Neumann, Luitgard M; Devriendt, Koenraad; Smithson, Sarah F; Wellesley, Diana; Verbeek, Nienke E; Hennekam, Raoul C M; Kayserili, Hulya; Scambler, Peter J; Beales, Philip L; Knoers, Nine VAM; Roepman, Ronald; Mitchison, Hannah M

2013-01-01

Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis. Aims and methods To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing. Results and conclusions We detected 34 DYNC2H1 mutations in 29/71 (41%) patients from 19/57 families (33%), showing it as a major cause of JATD especially in Northern European patients. This included 13 early protein termination mutations (nonsense/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. In addition, 21 missense mutations were distributed across DYNC2H1 and these showed some clustering to functional domains, especially the ATP motor domain. DYNC2H1 patients largely lacked significant extra-skeletal involvement, demonstrating an important genotype–phenotype correlation in JATD. Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors. Assessment of fibroblasts from patients showed accumulation of anterograde IFT proteins in the ciliary tips, confirming defects similar to patients with other retrograde IFT machinery mutations, which may be of undervalued potential for diagnostic purposes. PMID:23456818

Localization of canine brachycephaly using an across breed mapping approach.

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Danika Bannasch

2010-03-01

Full Text Available The domestic dog, Canis familiaris, exhibits profound phenotypic diversity and is an ideal model organism for the genetic dissection of simple and complex traits. However, some of the most interesting phenotypes are fixed in particular breeds and are therefore less tractable to genetic analysis using classical segregation-based mapping approaches. We implemented an across breed mapping approach using a moderately dense SNP array, a low number of animals and breeds carefully selected for the phenotypes of interest to identify genetic variants responsible for breed-defining characteristics. Using a modest number of affected (10-30 and control (20-60 samples from multiple breeds, the correct chromosomal assignment was identified in a proof of concept experiment using three previously defined loci; hyperuricosuria, white spotting and chondrodysplasia. Genome-wide association was performed in a similar manner for one of the most striking morphological traits in dogs: brachycephalic head type. Although candidate gene approaches based on comparable phenotypes in mice and humans have been utilized for this trait, the causative gene has remained elusive using this method. Samples from nine affected breeds and thirteen control breeds identified strong genome-wide associations for brachycephalic head type on Cfa 1. Two independent datasets identified the same genomic region. Levels of relative heterozygosity in the associated region indicate that it has been subjected to a selective sweep, consistent with it being a breed defining morphological characteristic. Genotyping additional dogs in the region confirmed the association. To date, the genetic structure of dog breeds has primarily been exploited for genome wide association for segregating traits. These results demonstrate that non-segregating traits under strong selection are equally tractable to genetic analysis using small sample numbers.

Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.

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Louise H W Kung

Full Text Available Mutations in genes encoding cartilage oligomeric matrix protein and matrilin-3 cause a spectrum of chondrodysplasias called multiple epiphyseal dysplasia (MED and pseudoachondroplasia (PSACH. The majority of these diseases feature classical endoplasmic reticulum (ER stress and activation of the unfolded protein response (UPR as a result of misfolding of the mutant protein. However, the importance and the pathological contribution of ER stress in the disease pathogenesis are unknown. The aim of this study was to investigate the generic role of ER stress and the UPR in the pathogenesis of these diseases. A transgenic mouse line (ColIITgcog was generated using the collagen II promoter to drive expression of an ER stress-inducing protein (Tgcog in chondrocytes. The skeletal and histological phenotypes of these ColIITgcog mice were characterised. The expression and intracellular retention of Tgcog induced ER stress and activated the UPR as characterised by increased BiP expression, phosphorylation of eIF2α and spliced Xbp1. ColIITgcog mice exhibited decreased long bone growth and decreased chondrocyte proliferation rate. However, there was no disruption of chondrocyte morphology or growth plate architecture and perturbations in apoptosis were not apparent. Our data demonstrate that the targeted induction of ER stress in chondrocytes was sufficient to reduce the rate of bone growth, a key clinical feature associated with MED and PSACH, in the absence of any growth plate dysplasia. This study establishes that classical ER stress is a pathogenic factor that contributes to the disease mechanism of MED and PSACH. However, not all the pathological features of MED and PSACH were recapitulated, suggesting that a combination of intra- and extra-cellular factors are likely to be responsible for the disease pathology as a whole.

[The efficacy of tympanopunction in children with OMS].

Science.gov (United States)

Jezewska, Elzbieta; Kukwa, Andrzej; Jabłońska, Joanna; Wozniak, Monika

2008-01-01

Otitis media with effusion is the most frequent cause of conductive hearing impairement (HL) at pediatric age. This entity can be asymptomatic for an important period of time (silent OME). There is a surgical and a nonsurgical approach for OME. In case of failure of conservative treatment of OME the ventilation tube insertion (VT) with adenoidectomy alone or combined with tonsillectomy should be choosed. If the hearing loss is less than 20 dB children are candidates for conservative treatment and myringotomy. From 1999 to 2003, 50 children with bilateral and 9 with unilateral OME underwent the surgical treatment in our ENT Department. Mean age of patient population was 6,8 years. Clinical evaluation of the OME treatment outcome was done in 2004. Surgical procedure involved myringotomy, aspiration of the middle ear effusion, middle ear irrigation with soline solution 0.9 % Sodium Chloride (NaCl) followed by suction of diluted glue. Depo-Medrol (methylprednisolone acetate) was administrated into the middle ear. Our procedure included the management of the upper airways obstruction. Good long-term outcomes after surgical treatment of OME were obtained in 30 patients (79%). In this group of children the upper airways management included adenoidectomy and partial tonsillectomy. 8 children presented poor response to the treatment. In this group the surgical procedure consisted of adenoidectomy and inferior turbinate reduction. Two children presented acute otitis media and improved after conservative treatment. Other children with poor outcome were: a boy who underwent multiple surgical procedures due to laryngotracheal stenosis, a girl who suffered from chondrodysplasia. Remaining two patients presented few months ago aggravation of conductive hearing loss. According to positive familial history they underwent allergical examinations. One boy was planned for readenoidectomy and laser myringotomy, a girl already operated at the age of tree years, was planned for

Dexamethasone stimulates expression of C-type Natriuretic Peptide in chondrocytes

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Beier Frank

2006-11-01

Full Text Available Abstract Background Growth of endochondral bones is regulated through the activity of cartilaginous growth plates. Disruption of the physiological patterns of chondrocyte proliferation and differentiation – such as in endocrine disorders or in many different genetic diseases (e.g. chondrodysplasias – generally results in dwarfism and skeletal defects. For example, glucocorticoid administration in children inhibits endochondral bone growth, but the molecular targets of these hormones in chondrocytes remain largely unknown. In contrast, recent studies have shown that C-type Natriuretic Peptide (CNP is an important anabolic regulator of cartilage growth, and loss-of-function mutations in the human CNP receptor gene cause dwarfism. We asked whether glucocorticoids could exert their activities by interfering with the expression of CNP or its downstream signaling components. Methods Primary mouse chondrocytes in monolayer where incubated with the synthetic glucocorticoid Dexamethasone (DEX for 12 to 72 hours. Cell numbers were determined by counting, and real-time PCR was performed to examine regulation of genes in the CNP signaling pathway by DEX. Results We show that DEX does influence expression of key genes in the CNP pathway. Most importantly, DEX significantly increases RNA expression of the gene encoding CNP itself (Nppc. In addition, DEX stimulates expression of Prkg2 (encoding cGMP-dependent protein kinase II and Npr3 (natriuretic peptide decoy receptor genes. Conversely, DEX was found to down-regulate the expression of the gene encoding its receptor, Nr3c1 (glucocorticoid receptor, as well as the Npr2 gene (encoding the CNP receptor. Conclusion Our data suggest that the growth-suppressive activities of DEX are not due to blockade of CNP signaling. This study reveals a novel, unanticipated relationship between glucocorticoid and CNP signaling and provides the first evidence that CNP expression in chondrocytes is regulated by endocrine

Detection and genetic characterization of tick-borne encephalitis virus (TBEV) derived from ticks removed from red foxes (Vulpes vulpes) and isolated from spleen samples of red deer (Cervus elaphus) in Croatia.

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Jemeršić, Lorena; Dežđek, Danko; Brnić, Dragan; Prpić, Jelena; Janicki, Zdravko; Keros, Tomislav; Roić, Besi; Slavica, Alen; Terzić, Svjetlana; Konjević, Dean; Beck, Relja

2014-02-01

Tick-borne encephalitis (TBE) is a growing public health concern in central and northern European countries. Even though TBE is a notifiable disease in Croatia, there is a significant lack of information in regard to vector tick identification, distribution as well as TBE virus prevalence in ticks or animals. The aim of our study was to identify and to investigate the viral prevalence of TBE virus in ticks removed from red fox (Vulpes vulpes) carcasses hunted in endemic areas in northern Croatia and to gain a better insight in the role of wild ungulates, especially red deer (Cervus elaphus) in the maintenance of the TBE virus in the natural cycle. We identified 5 tick species (Ixodes ricinus, Ixodes hexagonus, Haemaphysalis punctata, Dermacentor reticulatus, Rhipicephalus sanguineus) removed from 40 red foxes. However, TBE virus was isolated only from adult I. ricinus and I. hexagonus ticks showing a viral prevalence (1.6%) similar to or higher than reported in endemic areas of other European countries. Furthermore, 2 positive spleen samples from 182 red deer (1.1%) were found. Croatian TBE virus isolates were genetically analyzed, and they were shown to be closely related, all belonging to the European TBE virus subgroup. However, on the basis of nucleotide and amino acid sequence analysis, 2 clusters were identified. Our results show that further investigation is needed to understand the clustering of isolates and to identify the most common TBE virus reservoir hosts in Croatia. Sentinel surveys based on wild animal species would give a better insight in defining TBE virus-endemic and possible risk areas in Croatia. Copyright © 2013. Published by Elsevier GmbH.

Physiological and molecular characterization of Si uptake in wild rice species.

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Mitani-Ueno, Namiki; Ogai, Hisao; Yamaji, Naoki; Ma, Jian Feng

2014-07-01

Cultivated rice (Oryza sativa) accumulates high concentration of silicon (Si), which is required for its high and sustainable production. High Si accumulation in cultivated rice is achieved by a high expression of both influx (Lsi1) and efflux (Lsi2) Si transporters in roots. Herein, we physiologically investigated Si uptake, isolated and functionally characterized Si transporters in six wild rice species with different genome types. Si uptake by the roots was lower in Oryza rufipogon, Oryza barthii (AA genome), Oryza australiensis (EE genome) and Oryza punctata (BB genome), but similar in Oryza glumaepatula and Oryza meridionalis (AA genome) compared with the cultivated rice (cv. Nipponbare). However, all wild rice species and the cultivated rice showed similar concentration of Si in the shoots when grown in a field. All species with AA genome showed the same amino acid sequence of both Lsi1 and Lsi2 as O. sativa, whereas species with EE and BB genome showed several nucleotide differences in both Lsi1 and Lsi2. However, proteins encoded by these genes also showed transport activity for Si in Xenopus oocyte. The mRNA expression of Lsi1 in all wild rice species was lower than that in the cultivated rice, whereas the expression of Lsi2 was lower in O. rufipogon and O. barthii but similar in other species. Similar cellular localization of Lsi1 and Lsi2 was observed in all wild rice as the cultivated rice. These results indicate that superior Si uptake, the important trait for rice growth, is basically conserved in wild and cultivated rice species. © 2013 Scandinavian Plant Physiology Society.

The community structure and seasonal dynamics of plankton in Bange Lake, northern Tibet, China

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Zhao, Wen; Zhao, Yuanyi; Wang, Qiaohan; Zheng, Mianping; Wei, Jie; Wang, Shan

2016-11-01

The seasonal variations in biomass, abundance, and species composition of plankton in relation to hydrography were studied in the saline Bange Lake, northern Tibet, China. Sampling was carried out between one to three times per month from May 2001 to July 2002. Salinity ranged from 14 to 146. The air and water temperature exhibited a clear seasonal pattern, and mean annual temperatures were approximately 4.8°C and 7.3°C, respectively. The lowest water temperature occurred in winter from December to March at -2°C and the highest in June and July at 17.7°C. Forty-one phytoplankton taxa, 21 zooplankton, and 5 benthic or facultative zooplankton were identified. The predominant phytoplankton species were Gloeothece linearis, Oscillatoria tenuis, Gloeocapsa punctata, Ctenocladus circinnatus, Dunaliella salina, and Spirulina major. The predominant zooplankton species included Holophrya actra, Brachionus plicatilis, Daphniopsis tibetana, Cletocamptus dertersi, and Arctodiaptomus salinus. The mean annual total phytoplankton density and biomass for the entire lake were 4.52×107 cells/L and 1.60 mg/L, respectively. The annual mean zooplankton abundance was 52, 162, 322, and 57, 144 ind./L, in the three sublakes. The annual mean total zooplankton biomass in Lakes 1-3 was 1.23, 9.98, and 2.13 mg/L, respectively. The annual mean tychoplankton abundances in Bg1, 2, and 3 were 47, 67, and 654 ind./L. The annual mean tychoplankton biomass was 2.36, 0.16, and 2.03 mg/L, respectively. The zooplankton biomass (including tychoplankton) in the lake was 9.11 mg/L. The total number of plankton species in the salt lake was significantly negatively correlated with salinity.

Vertical and temporal variation in phytoplankton assemblages correlated with environmental conditions in the Mundaú reservoir, semi-arid northeastern Brazil

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GAST LIRA

Full Text Available The goal of this study was to analyse the vertical structure of the phytoplankton community at the Mundaú reservoir, located in the semi-arid region of northeastern Brazil, and to correlate it to environmental conditions over two distinct seasons, dry and rainy. Samples were collected bimonthly at eight depths in the dry and rainy season for analyses of the physical and chemical variables of the water, as well as density, abundance, dominance, species diversity index and equitability of the community. Analysis of variance (ANOVA-two way was used to analyse the vertical and seasonal differences, and Canonical Correspondence Analysis (CCA was used to assess associations between phytoplankton and environmental variables Cylindrospermopsis raciborskii (Woloszynska Seenaya and Subba Raju was the only dominant species and Geitlerinema amphibium (C. Agardh Anagnostidis, Merismopedia punctata Meyen and Synedra rumpens Kützing. Others six taxa were abundant in at least one of the samples. Distinct vertical distribution patterns were observed for the abundant taxa between depths and seasons. The cyanobacteria, with the exception of C. raciborskii, showed similar seasonal patterns, with higher densities in the dry season. The CCA showed a strong correlation between the density of the phytoplanktonic species and abiotic variables. The vertical changes in abundant taxa revealed distinct patterns regulated by the variation in the environmental factors that were directly linked to seasonality, with the success of one or more species being dependent on their life strategies and ecological needs. The present study restates the importance of environmental and seasonal factors for phytoplankton composition and distribution in a freshwater tropical reservoir through a vertical gradient.

Arbovirological survey in Silica plateau area, Roznava District, Czechoslovakia.

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Hubálek, Z; Cerný, V; Mittermayer, T; Kilík, J; Halouzka, J; Juricová, Z; Kuhn, I; Bárdos, V

1986-01-01

The serosurveys conducted in the Silica plateau area of the Slovak karst region revealed the presence of specific neutralizing antibody against tick-borne encephalitis (TBE) virus in 18% of local inhabitants (33 examined, mostly goats and sheep farmers), 54% of goats (26 examined), 18% of sheep (120 examined) and 13% of cattle (60 examined), against Lipovník (LIP) virus in 30% of inhabitants, 88% of goats, 55% of sheep and 45% of cattle, and against Bhanja (BHA) virus in 27% of inhabitants, 46% of goats, 29% of sheep and 23% of cattle. The results of hemagglutination-inhibition tests with TBE and BHA antigens were analogous. A detailed analysis of these serologic data points to a recent enhancement of the circulation of LIP and BHA viruses and to a very low TBE virus activity in this natural focus of arboviral infections. The immunological surveys of the 32 former "Roznava disease" patients, conducted 25 years after an extensive epidemic of a TBE virus infection that originated in Roznava in 1951, revealed the presence of neutralizing (and also hemagglutination-inhibiting) antibodies against TBE virus in as many as 78% of cases. Antibodies against LIP and BHA viruses were also detectable in the sera of 16% and 9%, respectively, of these individuals. Populations of the ectoparasites examined for the presence of arbovirus comprised 231 Ixodes ricinus, 806 Dermacentor marginatus and 204 Haemaphysalis punctata ticks and 117 specimens of the louse-flies Melophagus ovinus. Two strains of arbivirus that were antigenically related to Lipovník and Tribec viruses belonging to a group of Kemerovo viruses were isolated from male and female I. ricinus ticks collected from cattle.

Seasonal Activity of Ticks and their Importance in Tick-Borne Infectious Diseases in West Azerbaijan, Iran

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Sh Salari Lak

2008-12-01

Full Text Available Background: West Azerbaijan is considered as a main region for domestic animal breeding. Due to importance of herd as a main host and ticks as a vector of relapsing fever and CCHF, a comprehensive study was undertaken in the region.Methods: Outdoor, indoor collection as well as ticks stick to the animals' body were collected and identified. The study was conducted during the whole seasons in 2004-2005.Results: During four seasons a total of 2728 ticks of two families (Ixodidae and Argasidae were collected compris­ing 7 genera of 5 hard ticks and two genera of soft ticks including Haemaphysalis, Hyalomma, Rhipicepha­lus, Boophilus and Dermacentor. The soft ticks were Ornithodoros and Argas. These 7 genera included 18 species. The main species were Haemaphysalis inermis, H. punctata, H. sulcata, H. numidiana, H. concinna, Hyalomma mar­gi­natum, Hy. anatolicum, Hy. detritum, Hy. dromedarii, Hy. asiaticum, Hy. schulzei, H. aegyptium, Rhipicephalus bursa, R. sangiuneus, Dermacentor marginatus, Boophilus annulatus, Ornithodoros lahorensis, and Argas persicus. Fre­quency of ticks during different seasons was different. A pyrethroid insecticide, cypermethrin, which is widely used for tick control was tested against soft ticks. The test method was based on WHO recommendation. At the LD50 level A. persicus needs more concentration than O. lahorensis.Conclusion: Ornithodoros and Argas are the more prevalent soft ticks in the region. Distribution and prevalence of hard ticks was varied in different seasons. Results of this study will provide a clue for vectors of tick-borne diseases in the region for local authorities for implementation of tick control.

Ultraviolet radiation induces stress in etiolated Landoltia punctata, as evidenced by the presence of alanine, a universal stress signal: a ¹⁵N NMR study.

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Monselise, E B-I; Levkovitz, A; Kost, D

2015-01-01

Analysis with (15) N NMR revealed that alanine, a universal cellular stress signal, accumulates in etiolated duckweed plants exposed to 15-min pulsed UV light, but not in the absence of UV irradiation. The addition of 10 mm vitamin C, a radical scavenger, reduced alanine levels to zero, indicating the involvement of free radicals. Free D-alanine was detected in (15) N NMR analysis of the chiral amino acid content, using D-tartaric acid as solvent. The accumulation of D-alanine under stress conditions presents a new perspective on the biochemical processes taking place in prokaryote and eukaryote cells. © 2014 German Botanical Society and The Royal Botanical Society of the Netherlands.

Resistência anti-helmíntica de nematóides gastrintestinais em ovinos, Mato Grosso do Sul Anthelmintic resistance of gastrointestinal nematodes in sheep, Mato Grosso do Sul, Brazil

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Eurico A. Sczesny-Moraes

2010-03-01

Full Text Available Entre os métodos de controle da verminose gastrintestinal em ovinos, a utilização de produtos químicos é o mais empregado. Porém, o uso indiscriminado e continuado desses produtos tem selecionado populações de helmintos resistentes aos anti-helmínticos, fenômeno relatado no mundo todo. Este trabalho teve como objetivo identificar as espécies de parasitos gastrintestinais e diagnosticar a situação da resistência anti-helmíntica em ovinos no Estado de Mato Grosso do Sul. Foram realizados testes de redução na contagem de ovos por grama de fezes (OPG em rebanhos de dezesseis propriedades rurais; as sete formulações utilizadas continham as seguintes bases farmacológicas: Albendazol, Ivermectina, Levamisole, Triclorfon, Moxidectina, Closantel e uma contendo as três primeiras associadas. As espécies identificadas nas necropsias, em ovinos adultos, foram: Haemonchus contortus, Trichostrongylus colubriformis, Cooperia curticei, C. punctata, C. pectinata e Oesophagostomum columbianum; em ordem de prevalência. As formulações contendo Albendazol e Ivermectina não apresentaram eficácia na redução de OPG nos rebanhos testados, com médias de redução de 0,7 e -19,6%, respectivamente. Closantel apresentou eficácia média de 6,7%; Levamisole, Moxidectina e Triclorfon de 28,7, 26,8 e 65%, respectivamente; a associação das três bases (Albendazol, Ivermectina e Levamisole, uma média de eficácia de 55,8%. As percentagens médias de larvas infectantes recuperadas nas coproculturas, tanto no pré como no pós-tratamento, foram semelhantes; indicando que a resistência às bases testadas está presente em todas as espécies citadas, em maior ou menor intensidade. Os dois gêneros predominantemente resistentes são Haemonchus sp., com 86,9%; seguido por Trichostrongylus sp., com média de 47,5%; Strongyloides sp. 33,6%; Oesophagostomum, sp. 21,4% e Cooperia sp. 19,7%.Among the methods of control of gastrointestinal worms in sheep

Resultados paleoceanográficos deducidos a partir del contenido en diatomeas de los sedimentos siliceos miocenos («moronitas» en la Cuenca del Guadalquivir

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López García, Mª J.

1995-04-01

Full Text Available During a part of the Miocene (Langhian middle-middle Tortonian diatom bearing sediments, named «moronitas», were deposited in the Guadalquivir Basin. This sedimentation was the result of a highly productive coastal upwelling regime in the area. At this time, the oceanic circulation in the «nord-betic strait» was under stuarine conditions and the nutrients carne from deep Atlantic currents. The intensity of the circulation of deep water in oceans is usually related to global climatic changes. Coastal upwelling is not an effective process to bring up nutrient-rich deep waters to the surface. A complex hidrological process must occur to bring up deep water firstly to intermediate leveIs and then the nutrients may be upwelled from subsurface waters. It is necessary to take into account local factors related to the basin morphology and the changes that it has gone through in arder to place the ancient upwelling centers in the basin. The percentajes of the most common species (Crucidenticula nicobarica + Crucidenticula punctata, Denticulopsis hustedtii, Thalassionema nitzschioides, Thalassionema nitzschioides var. parva, Thalassiothrix longissima + Thalassionema bacillaris and the biosilicic global content of the rocks has made possible the recognition of a change in the temperature of superficial waters and upwelling intensity in time. The interpretation of the A..P.C. graphics gives a paleoecological significance to the A.P.C. first two factors. In this way different productivity situations in response to different locations and intensity of the ancient upwelling centers in time have been identified.Durante una parte del Mioceno (Langhiense medio-Tortoniense medio tuvo lugar en actual Cuenca del Guadalquivir la formación de sedimentos con diatomeas («moronitas». Esta sedimentación fue consecuencia de la formación de un área de alta productividad biogénica ocasionada por corrientes ascensionales costeras (coastal upwelling. La

Early Middle Frasnian platform reef strata in the Moravian Karst interpreted as recording the atmospheric dust changes: the key to understanding perturbations in the punctata conodont zone

Czech Academy of Sciences Publication Activity Database

Hladil, Jindřich; Koptíková, Leona; Galle, Arnošt; Sedláček, Václav; Pruner, Petr; Schnabl, Petr; Langrová, Anna; Bábek, O.; Frána, Jaroslav; Hladíková, J.; Otava, J.; Geršl, M.

2009-01-01

Roč. 84, č. 1 (2009), s. 75-106 ISSN 1214-1119 R&D Projects: GA AV ČR IAAX00130702; GA AV ČR IAA300130702 Institutional research plan: CEZ:AV0Z30130516; CEZ:AV0Z10480505 Keywords : mineral dust * platform reef * stromatactis * Devonian * Alamo impact Subject RIV: DB - Geology ; Mineralogy Impact factor: 0.983, year: 2009

OCORRÊNCIA E DISTRIBUIÇÃO ESTACIONAL DE HELMINTOS GASTRINTESTINAIS DE CAPRINOS NO MUNICÍPIO DE TERESINA, PIAUÍ

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Eneide Santiago Girão

1992-08-01

Full Text Available Este trabalho objetiva verificar a ocorrência e distribuição estacional de helmintos gastrintestinais parasitas de caprinos durante as estações seca e chuvosa visando o estabelecimento de medidas adequadas para o controle da verminose. O experimento foi conduzido na base física da EMBRAPA/UEPAE de Teresina, no município de Teresina. Em um piquete de Brachiaria humidicola medindo dois hectares, foram colocados oito caprinos machos, entre seis a oito meses de idade. Cinco animais ficaram permanentes no piquete e não receberam tratamento anti-helmíntico durante todo o período (Testemunhas e três (incorporados ao trabalho a cada mês, após receberem três tratamentos anti-helmínticos, ficaram expostos à infecção helmíntica durante 30 dias no piquete (traçadores. Mensalmente, após 14 dias de estabulação, eram abatidos e necropsiados três caprinos traçadores e no final do experimento, os testemunhas para coleta, contagem e identificação dos helmintos. De janeiro/88 a fevereiro/90 foram necropsiados 70 caprinos traçadores e cinco testemunhas. Os helmintos identificados foram: Haemonchus contortus, Trichostrongylus colubriformis, Strongyloides papillosus, Moniezia expansa, Cooperia punctata, C. curticei, Oesophagostomum columbianum, Trichuris spp (T. ovis, Trichuris sp., T. skrjabini, Skrjabinema ovis, Cysticercus tenuicollis e Paramphistomum spp. As necropsias nos caprinos traçadores indicaram que ocorreu transmissão de helmintos durante o ano todo sendo em intensidades mais elevadas na época chuvosa e início da época seca e que o helminto de maior intensidade nos caprinos traçadores foi H. contortus, e nos testemunhas T. colubriformis.

Integrative Taxonomic Study of the Purse Crab Genus Persephona Leach, 1817 (Brachyura: Leucosiidae): Combining Morphology and Molecular Data

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Magalhães, Tatiana; Robles, Rafael; Felder, Darryl L.

2016-01-01

Marine crabs of the genus Persephona Leach, 1817 are restricted to American waters of the western Atlantic and eastern Pacific Oceans. Subfamilial assignment of this taxon has varied between authors and its species composition remain in question. We conducted a comparative study based on morphology and molecular phylogenetics for all ten recognized species of Persephona, along with Iliacantha hancocki. We tested whether Persephona finneganae, P. lichtensteinii, and P. crinita represent a single species as suggested by some authors; whether specimens identified as P. punctata, P. mediterranea, and P. aquilonaris warrant treatment as separate species; and whether I. hancocki should be regarded as a junior synonym of P. subovata. Diagnostic morphological characters (of the carapace, chelipeds, and third maxillipeds) were used along with gonopod (male first pleopod 1) features and live coloration. The 16S rRNA and the Cytochrome Oxidase I (COI) (DNA barcoding) mitochondrial genes were used as molecular markers. Both morphological and molecular analyses revealed that putative specimens of P. crinita from Brazil and those assigned to P. finneganae were no different from specimens presently assignable to P. lichtensteinii. P. finneganae is regarded as a junior synonym of P. lichtensteinii, and we apply P. crinita only to specimens we examined from the Gulf of Mexico. Specimens from Brazil previously reported as P. crinita are herewith concluded to represent P. lichtensteinii. Additionally, P. townsendi is a junior synonym of P. orbicularis, Iliacantha hancocki is concluded to be a junior synonym of P. subovata, while P. aquilonaris and P. mediterranea are found to represent separate species. On the basis of our revisions, eight species of Persephona are considered valid, and the reported distribution for P. crinita is restricted. PMID:27099956

3种浮萍对富营养化水体的修复%Effect of three duckweed species on remediation of eutrophic water

Institute of Scientific and Technical Information of China (English)

谢朦; 张飞; 章莹颖; 秦霄; 马炯; 肖炘; 成家杨

2016-01-01

选用Spirodela polyrhiza、Lemna aequinoctialis和Landoltia punctata3种太湖浮萍为实验对象,在实验室条件下,研究其生长状况及其对模拟太湖水体的净化效果.结果表明,3种浮萍对水体总氮、氨氮、硝氮和总磷都具有很好的净化效果,S.polyrhiza,L.aequinoctialis和L.Punctata对总氮的去除率分别为80.3％、73.7％和83.8％,对总磷的去除率分别为98.8％,96.4％和99.3％,但对有机物的去除作用比较有限.除营养吸收外,浮萍的水质净化能力还表现在对水中环境因子的影响,3种浮萍都能够维持水体pH在4.6 ～6.5的范围内以适合自身生长,并能够在一定程度上增加水体的溶解氧含量.硝化和反硝化作用是氮去除的主要途径,由于水体溶解氧含量较高,促进了好氧反硝化作用的进行.相比于S.polyrhiza和L.aequinoctialis,L.punctata具有较强的水体净化效果和生长速度,是净化太湖富营养化水体的理想水生植物.

Documentation and quantitative analysis of local ethnozoological knowledge among traditional healers of Theni district, Tamil Nadu, India.

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Chellappandian, M; Pandikumar, P; Mutheeswaran, S; Gabriel Paulraj, M; Prabakaran, S; Duraipandiyan, V; Ignacimuthu, S; Al-Dhabi, N A

2014-05-28

This study investigated the use of animals among the traditional healers in Theni district of Tamil Nadu, India. The data regarding the medicinal animals/animal products were documented and their usages were analyzed quantitatively. Based on free list interviews with the traditional healers, we documented the medicinal usage of animals/animal products and calculated the indices such as informant consensus factor (Fic) to determine the consensus over the species for an illness category, as well as the Index Agreement on Remedies (IAR) to determine the extent of potential utilization of each species. In this study, 69 medicinal animals/animal products were documented with the help of standardized questionnaires among the local healers. The results were tabulated and Fic value for each illness category was calculated. Three illness categories viz., jaundice (milk of Capra aegagrus hircus), orthopedics (egg white and meat of Gallus gallus domesticus) and pediatrics (milk of Equus africanus asinus) had got high Fic values. Fifteen illness categories had moderate Fic values. Highly cited animals in these illness categories were: Rusa unicolor (antiemetic), Reticulitermes spp. (diabetes), flesh of Varanus benghalensis (oral ailments), milk (eye ailments, fever) and urine (antidote) of Homo sepians, meat of Trachypithecus johnii (respiratory ailments), various parts of C. aegagrus hircus (blood ailments, coolants, diarrhea, pulmonary and urinary ailments), flesh of Chamaeleon zeyalnica (neural ailments), meat of Passer domesticus (aphrodisiac), curd and dung of Bos primigenius taurus (dermatological ailments), meat of G. domesticus (musculo-skeletal disorders, analgesic), meat of Lissemys punctata (hemorrhoids), and Pherthima posthuma (psychological ailments). Six illness categories had low Fic values. This study indicated that the animals are still being used by the local healers of Theni district, to treat various illnesses. Cross-disciplinary approaches to explore the

Calibrating snakehead diversity with DNA barcodes: expanding taxonomic coverage to enable identification of potential and established invasive species.

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Natasha R Serrao

Full Text Available Detecting and documenting the occurrence of invasive species outside their native range requires tools to support their identification. This can be challenging for taxa with diverse life stages and/or problematic or unresolved morphological taxonomies. DNA barcoding provides a potent method for identifying invasive species, as it allows for species identification at all life stages, including fragmentary remains. It also provides an efficient interim taxonomic framework for quantifying cryptic genetic diversity by parsing barcode sequences into discontinuous haplogroup clusters (typical of reproductively isolated species and labelling them with unique alphanumeric identifiers. Snakehead fishes are a diverse group of opportunistic predators endemic to Asia and Africa that may potentially pose significant threats as aquatic invasive species. At least three snakehead species (Channa argus, C. maculata, and C. marulius are thought to have entered North America through the aquarium and live-food fish markets, and have established populations, yet their origins remain unclear. The objectives of this study were to assemble a library of DNA barcode sequences derived from expert identified reference specimens in order to determine the identity and aid invasion pathway analysis of the non-indigenous species found in North America using DNA barcodes. Sequences were obtained from 121 tissue samples representing 25 species and combined with public records from GenBank for a total of 36 putative species, which then partitioned into 49 discrete haplogroups. Multiple divergent clusters were observed within C. gachua, C. marulius, C. punctata and C. striata suggesting the potential presence of cryptic species diversity within these lineages. Our findings demonstrate that DNA barcoding is a valuable tool for species identification in challenging and under-studied taxonomic groups such as snakeheads, and provides a useful framework for inferring invasion pathway

Reconstructing the muscular ground pattern of phylactolaemate bryozoans: first data from gelatinous representatives.

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Gawin, Natalie; Wanninger, Andreas; Schwaha, Thomas

2017-11-07

Phylactolaemata is commonly regarded the earliest branch within Bryozoa and thus the sister group to the other bryozoan taxa, Cyclostomata and Gymnolaemata. Therefore, the taxon is important for the reconstruction of the bryozoan morphological ground pattern. In this study the myoanatomy of Pectinatella magnifica, Cristatella mucedo and Hyalinella punctata was analysed by means of histology, f-actin staining and confocal laser-scanning microscopy in order to fill gaps in knowledge concerning the myoanatomy of Phylactolaemata. The retractor muscles and muscles of the aperture, gut, body wall, tentacle sheath, lophophore constitute the most prominent muscular subsets in these species. The lophophore shows longitudinal muscle bands in the tentacles, lophophoral arm muscles, epistome musculature and hitherto undescribed muscles of the ring canal. In general the muscular system of the three species is very similar with differences mainly in the body wall, tentacle sheath and epistome. The body wall contains an orthogonal grid of musculature. The epistome exhibits either a muscular meshwork in the epistomal wall or muscle fibers traversing the epistomal cavity. The whole tentacle sheath possesses a regular mesh of muscles in Pectinatella and Cristatella, whereas circular muscles are limited to the tentacle sheath base in Hyalinella. This study is the first to describe muscles of the ring canal and contributes to reconstructing muscular features for the last common ancestor of all bryozoans. The data available suggest that two longitudinal muscle bands in the tentacles, as well as retractor muscles and longitudinal and circular muscles in the tentacle sheath, were present in the last common bryozoan ancestor. Comparisons among bryozoans shows that several apomorphies are present in the myoanatomy of each class- level taxon such as the epistomal musculature and musculature of the lophophoral arms in phylactolaemates, annular muscles in cyclostomes and parietal muscles in

Integrative Taxonomic Study of the Purse Crab Genus Persephona Leach, 1817 (Brachyura: Leucosiidae: Combining Morphology and Molecular Data.

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Tatiana Magalhães

Full Text Available Marine crabs of the genus Persephona Leach, 1817 are restricted to American waters of the western Atlantic and eastern Pacific Oceans. Subfamilial assignment of this taxon has varied between authors and its species composition remain in question. We conducted a comparative study based on morphology and molecular phylogenetics for all ten recognized species of Persephona, along with Iliacantha hancocki. We tested whether Persephona finneganae, P. lichtensteinii, and P. crinita represent a single species as suggested by some authors; whether specimens identified as P. punctata, P. mediterranea, and P. aquilonaris warrant treatment as separate species; and whether I. hancocki should be regarded as a junior synonym of P. subovata. Diagnostic morphological characters (of the carapace, chelipeds, and third maxillipeds were used along with gonopod (male first pleopod 1 features and live coloration. The 16S rRNA and the Cytochrome Oxidase I (COI (DNA barcoding mitochondrial genes were used as molecular markers. Both morphological and molecular analyses revealed that putative specimens of P. crinita from Brazil and those assigned to P. finneganae were no different from specimens presently assignable to P. lichtensteinii. P. finneganae is regarded as a junior synonym of P. lichtensteinii, and we apply P. crinita only to specimens we examined from the Gulf of Mexico. Specimens from Brazil previously reported as P. crinita are herewith concluded to represent P. lichtensteinii. Additionally, P. townsendi is a junior synonym of P. orbicularis, Iliacantha hancocki is concluded to be a junior synonym of P. subovata, while P. aquilonaris and P. mediterranea are found to represent separate species. On the basis of our revisions, eight species of Persephona are considered valid, and the reported distribution for P. crinita is restricted.

XBP1-Independent UPR Pathways Suppress C/EBP-β Mediated Chondrocyte Differentiation in ER-Stress Related Skeletal Disease.

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Trevor L Cameron

2015-09-01

Full Text Available Schmid metaphyseal chondrodysplasia (MCDS involves dwarfism and growth plate cartilage hypertrophic zone expansion resulting from dominant mutations in the hypertrophic zone collagen, Col10a1. Mouse models phenocopying MCDS through the expression of an exogenous misfolding protein in the endoplasmic reticulum (ER in hypertrophic chondrocytes have demonstrated the central importance of ER stress in the pathology of MCDS. The resultant unfolded protein response (UPR in affected chondrocytes involved activation of canonical ER stress sensors, IRE1, ATF6, and PERK with the downstream effect of disrupted chondrocyte differentiation. Here, we investigated the role of the highly conserved IRE1/XBP1 pathway in the pathology of MCDS. Mice with a MCDS collagen X p.N617K knock-in mutation (ColXN617K were crossed with mice in which Xbp1 was inactivated specifically in cartilage (Xbp1CartΔEx2, generating the compound mutant, C/X. The severity of dwarfism and hypertrophic zone expansion in C/X did not differ significantly from ColXN617K, revealing surprising redundancy for the IRE1/XBP1 UPR pathway in the pathology of MCDS. Transcriptomic analyses of hypertrophic zone cartilage identified differentially expressed gene cohorts in MCDS that are pathologically relevant (XBP1-independent or pathologically redundant (XBP1-dependent. XBP1-independent gene expression changes included large-scale transcriptional attenuation of genes encoding secreted proteins and disrupted differentiation from proliferative to hypertrophic chondrocytes. Moreover, these changes were consistent with disruption of C/EBP-β, a master regulator of chondrocyte differentiation, by CHOP, a transcription factor downstream of PERK that inhibits C/EBP proteins, and down-regulation of C/EBP-β transcriptional co-factors, GADD45-β and RUNX2. Thus we propose that the pathology of MCDS is underpinned by XBP1 independent UPR-induced dysregulation of C/EBP-β-mediated chondrocyte differentiation

ARQ 087 inhibits FGFR signaling and rescues aberrant cell proliferation and differentiation in experimental models of craniosynostoses and chondrodysplasias caused by activating mutations in FGFR1, FGFR2 and FGFR3

Czech Academy of Sciences Publication Activity Database

Bálek, L.; Gudernová, I.; Veselá, Iva; Hampl, Marek; Oralová, Veronika; Kunová Bosáková, M.; Vařecha, M.; Němec, P.; Hall, T.C.; Abbadessa, G.; Hatch, N.; Buchtová, Marcela; Krejčí, P.

2017-01-01

Roč. 105, č. 1 (2017), s. 57-66 ISSN 8756-3282 R&D Projects: GA ČR(CZ) GA17-09525S; GA ČR(CZ) GA14-31540S Institutional support: RVO:67985904 Keywords : ARQ087 * fibroblast growth factor receptor * FGFR Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Developmental biology Impact factor: 4.140, year: 2016

Frugivoría y dispersión de semillas de la palma Oenocarpus bataua (Arecaceae en un bosque de los Andes colombianos Frugivory and seed dispersal Oenocarpus bataua palm (Arecaceae in a forest from the Colombian Andes

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Rosario Rojas-Robles

2012-12-01

Full Text Available En zonas bajas tropicales, en bosques continuos y relativamente poco intervenidos, los frutos de la palma Oenocarpus bataua Mart., son consumidos por diversas especies de vertebrados, sin embargo, no hay estudios de dispersión de más largo plazo con esta especie. Entre agosto 2005-septiembre 2006 se realizaron observaciones de remoción de frutos, conteo de frutos comidos, observaciones focales, registros de frugivoría mediante trampas fotográficas, experimentos de dispersión y parcelas para determinar distribución espacial de Oenocarpus bataua. Cinco especies de mamíferos comen, dispersan, entierran (Sciurus granatensis, Microsciurus mimulus, Dasyprocta punctata y Proechimys sp., tapan (Marmosa robinsoni y llevan a las cuevas (Marmosa robinsoni y Proechimys sp., los frutos de O. bataua, sin dañar la semilla. El 21.7% de los frutos fueron dispersados, 13.2% roídos o pelados, 5.6% tapados, enterrados y llevados a cuevas. La distancia media de remoción de semillas y frutos fue 3.1m, aunque en menor proporción se registraron eventos de dispersión > a 50m. La abundante producción, el tamaño, el peso, la intensa remoción de los frutos por frugívoros, las cortas distancias de dispersión, la ausencia de frugívoros de gran porte disminuidos por cacería y fragmentación, encargados de la dispersión de larga distancia y el aumento de roedores, especialmente ardillas que presionan fuertemente el recurso frutos, generan una lluvia de semillas espacialmente restringida, posiblemente responsable de los patrones de distribución agregados en semillas, plántulas y posteriormente en juveniles y sub-adultos.Seed dispersal is a key process that determines the spatial structure and dynamics of populations of plants, establishes the potential area of recruitment and in this way, the basis for subsequent processes such as predation, germination, competition and growth. The purpose of this research was to identify the guild of frugivores of the

Avaliação de lagoas de Lemnas (Landoltia punctata) para o polimento de esgoto sanitário e fixação de gás carbônico

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Brugnago, Natália

2014-01-01

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico, Programa de Pós-Graduação em Engenharia Ambiental, Florianópolis, 2014. A fim de mitigar o problema da poluição das águas, as lagoas de lemnas têm sido consideradas como uma tecnologia eficiente e de baixo custo, sendo então aplicadas para o tratamento de esgoto sanitário e agroindustrial. A elevada eficiência na remoção de nutrientes (N e P) é uma das principais vantagens dessa tecnologia. Além disso, a b...

Epidemiologia das helmintoses gastrintestinais de ovinos no Planalto Catarinense

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Ramos César Itaqui

2004-01-01

Full Text Available Este trabalho foi desenvolvido em três propriedades rurais nos municípios de Lages, São Joaquim e Campos Novos, estado de Santa Catarina, com os objetivos de determinar a prevalência, a intensidade e a variação sazonal de helmintos gastrintestinais e pulmonares em ovinos no Planalto Catarinense. Com base nos resultados aintenção é propor um esquema estratégico de controle. Para isso, foram utilizados mensalmente três cordeiros traçadores por propriedade, os quais, antes de serem conduzidos às mesmas, foram estabulados por 30 dias e executados tratamentos supressivos com anti-helmínticos de diferentes princípios ativos, com exames parasitológicos semanais para verificar a total eliminação de infecção parasitária. A seguir, foram encaminhados às três propriedades onde permaneceram em pastejo por 28 dias, sendo posteriormente recolhidos ao estábulo por mais 20 dias. Após foram sacrificados e realizada a coleta de alíquotas de 10% dos conteúdos do abomaso e intestino delgado, todos os helmintos do intestino grosso e pulmão. As maiores infecções por Haemonchus contortus ocorreram durante o período de outubro a março. O parasitismo por Trichostrongylus axei e Trichostrongylus colubriformis teve índices crescentes ao longo dos anos experimentais, apresentando maior pico de maio a outubro de 1999. Predominaram as espécies, no abomaso: Haemonchus contortus (100%; Trichostrongylus axei (98,7%; Trichostrongylus colubriformis (1,3%; Teladorsagia circumcincta (100%; Ostertagia ostertagi (100%. No intestino delgado: Trichostrongylus colubriformis (100%; Cooperia punctata (69,1%; Cooperia pectinata (18,4%; Cooperia curticei (6,9%; Cooperia oncophora (4,8%; Cooperia spatulata (0,8% e Nematodirus spathiger (100%. No intestino grosso: Oesophagostomum venulosum (100% e Trichuris ovis (100%. No pulmão, não foram encontrados parasitos.

Partial Characterization of Tick-Borne Encephalitis Virus Isolates from Ticks of Southern Ukraine.

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Yurchenko, Oksana O; Dubina, Dmytro O; Vynograd, Nataliya O; Gonzalez, Jean-Paul

2017-08-01

Tick-borne encephalitis (TBE) is the most common tick-borne viral infection in Eurasia; thousands of human cases are annually reported from several European countries. Several tick species are vectors of the tick-borne encephalitis virus (TBEV), while TBE appears to be spreading from the Eurasian continent westward to Europe. Fifteen study sites were chosen from five territories of southern Ukraine, including Odessa, Mykolaiv, Kherson Oblast, the Autonomous Republic of Crimea, and Sevastopol. Tick collection was performed in spring season of three consecutive years (1988-1990) using either flagging technique or direct collection of specimens feeding on cattle. A total of 15,243 tick imagoes and nymphs were collected from nine species, including Dermacentor marginatus, D. reticulatus, Haemaphysalis parva, H. punctata, Hyalomma marginatum, Ixodes ricinus, Rhipicephalus bursa, R. rossicus, and R. sanguineus, pooled in 282 monospecific samples. Supernatant of grinded pool was used for inoculation to suckling mice for virus isolation. Eight TBEV isolates were identified from ticks among six study sites. Ticks showed a minimum infection rate from 0.11% to 0.81%. Phylogenetic analysis of the envelope (E) protein gene of seven isolates, assigned all to the European subtype (TBEV-Eu) showing a maximum identity of 97.17% to the "Pan" TBEV-Eu reference strain. Compared to 104 TBEV-Eu isolates they clustered within the same clade as the Pan reference strain and distinguished from other TBEV-Eu isolates. Amino acid sequence analysis of the South Ukrainian TBEV-Eu isolates revealed the presence of four amino acid substitutions 67 (N), 266 (R), 306 (V), and 407 (R), in the ectodomains II and III and in the stem-anchor region of the E protein gene. This study confirmed TBEV-Eu subtype distribution in the southern region of Ukraine, which eventually overlaps with TBEV-FE (Far Eastern subtype) and TBEV-Sib (Siberian subtype) domains, showing the heterogeneity of TBEV circulating in

Endectocide activity of a pour-on formulation containing 1.5 per cent ivermectin +0.5 per cent abamectin in cattle.

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Silva, Heloisa Cristina; Prette, Nancy; Lopes, Welber Daniel Zanetti; Sakamoto, Cláudio Alessandro M; Buzzulini, Carolina; Dos Santos, Thais Rabelo; Cruz, Breno Cayeiro; Teixeira, Weslen F Pires; Felippelli, Gustavo; Carvalho, Rafael Silveira; Maciel, Willian Giquelin; Soares, Vando Edésio; da Costa, Alvimar José

2015-01-01

The present work aimed to evaluate, through ten different studies, the therapeutic efficacy of a new pour-on formulation, containing 1.5 per cent ivermectin +0.5 per cent abamectin, against parasites of cattle. Results obtained on trials against Rhipicephalus (Boophilus) microplus showed that the pour-on combination of 1.5 per cent ivermectin +0.5 per cent abamectin obtained superior efficacy indexes against this ectoparasite, when compared with formulations containing 0.5 per cent ivermectin, 1 per cent ivermectin and the combination of 1 per cent abamectin +20 per cent levamisole. The results of efficacy of the ivermectin+abamectin and the 0.5 per cent ivermectin against Haematobia irritans were similar. Against Cochliomyia hominivorax larvae, all pour-on formulations tested (1.5 per cent ivermectin +0.5 per cent abamectin, 0.5 per cent ivermectin and 0.5 per cent abamectin), as well as 1 per cent doramectin administered subcutaneously, were considered ineffective. Cattle medicated with 1.5 per cent ivermectin +0.5 per cent abamectin, pour-on, remained free from parasitism by Dermatobia hominis larvae during 42 days (96 per cent efficacy), while values superior to 90 per cent were obtained by 0.5 per cent ivermectin (92 per cent) and 0.5 per cent abamectin (93 per cent) until the 42nd and 35th days post treatment, respectively. Against Haemonchus placei and Oesophagostomum radiatum, the pour-on of ivermectin+abamectin showed better efficacy than the 0.5 per cent ivermectin and 0.5 per cent abamectin. As to Cooperia punctata, there was no difference regarding efficacy results obtained by the avermectins combination and abamectin. The pour-on combination of 1.5 per cent ivermectin +0.5 per cent abamectin obtained high efficacy against R. (B.) microplus, D. hominis and some species of cattle gastrointestinal helminths when compared with formulations of 0.5 per cent ivermectin and 0.5 per cent abamectin administered through the same route.

Microarray-based analysis of differential gene expression between infective and noninfective larvae of Strongyloides stercoralis.

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Roshan Ramanathan

2011-05-01

Full Text Available Differences between noninfective first-stage (L1 and infective third-stage (L3i larvae of parasitic nematode Strongyloides stercoralis at the molecular level are relatively uncharacterized. DNA microarrays were developed and utilized for this purpose.Oligonucleotide hybridization probes for the array were designed to bind 3,571 putative mRNA transcripts predicted by analysis of 11,335 expressed sequence tags (ESTs obtained as part of the Nematode EST project. RNA obtained from S. stercoralis L3i and L1 was co-hybridized to each array after labeling the individual samples with different fluorescent tags. Bioinformatic predictions of gene function were developed using a novel cDNA Annotation System software. We identified 935 differentially expressed genes (469 L3i-biased; 466 L1-biased having two-fold expression differences or greater and microarray signals with a p value<0.01. Based on a functional analysis, L1 larvae have a larger number of genes putatively involved in transcription (p = 0.004, and L3i larvae have biased expression of putative heat shock proteins (such as hsp-90. Genes with products known to be immunoreactive in S. stercoralis-infected humans (such as SsIR and NIE had L3i biased expression. Abundantly expressed L3i contigs of interest included S. stercoralis orthologs of cytochrome oxidase ucr 2.1 and hsp-90, which may be potential chemotherapeutic targets. The S. stercoralis ortholog of fatty acid and retinol binding protein-1, successfully used in a vaccine against Ancylostoma ceylanicum, was identified among the 25 most highly expressed L3i genes. The sperm-containing glycoprotein domain, utilized in a vaccine against the nematode Cooperia punctata, was exclusively found in L3i biased genes and may be a valuable S. stercoralis target of interest.A new DNA microarray tool for the examination of S. stercoralis biology has been developed and provides new and valuable insights regarding differences between infective and

The spider family Micropholcommatidae (Arachnida: Araneae: Araneoidea: a relimitation and revision at the generic level

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Michael Rix

2010-02-01

.; the 20 previously described species of Textricella are thus transferred into Eterosonycha or other newly described genera. The Textricellini includes 10 genera from Australasia and Chile: Eterosonycha has four species, including the type E. alpina Butler (=Textricella parva Hickman syn. n., E. complexa (Forster, E. aquilina sp. n. and E. ocellata sp. n.; Epigastrina gen. n. has three species, including the type E. fulva (Hickman, E. loongana sp. n. and E. typhlops sp. n.; Guiniella gen. n. is monotypic, with G. tropica (Forster; Raveniella gen. n. has three species, including the type R. luteola (Hickman, R. hickmani (Forster and R. peckorum sp. n.; Rayforstia gen. n. has 12 species, including the type R. vulgaris (Forster, the two new species R. lordhowensis sp. n. and R. raveni sp. n., and the nine additional species R. antipoda (Forster, R. insula (Forster, R. mcfarlanei (Forster, R. plebeia (Forster, R. propinqua (Forster, R. salmoni (Forster, R. scuta (Forster, R. signata (Forster and R. wisei (Forster; Normplatnicka gen. n. has three species, including the type N. lamingtonensis (Forster, N. chilensis sp. n. and N. barrettae sp. n.; Eperiella gen. n. has two species, including the type E. alsophila sp. n., and E. hastings sp. n.; Algidiella gen. n. is monotypic, with A. aucklandica (Forster; Taliniella gen. n. has two species, including the type T. nigra (Forster, and T. vinki sp. n.; and Tinytrella gen. n. is monotypic, with T. pusilla (Forster. The micropholcommatine tribe Patelliellini trib. n. includes only one monotypic genus, Patelliella gen. n., represented by the enigmatic species Patelliella adusta sp. n. from Lord Howe Island. The subfamily Taphiassinae subfam. n. includes two genera of distinctive, heavily punctate Micropholcommatidae from Australasia: Taphiassa Simon has six species, including the type T. impressa Simon, T. punctata (Forster, T. castanea sp. n., T. globosa sp. n., T. magna sp. n. and T. robertsi sp. n.; the genus Parapua Forster

Fauna helmintológica de ovinos provenientes da microrregião de Jaboticabal, estado de São Paulo, Brasil

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Willian Giquelin Maciel

2014-03-01

Full Text Available Avaliou-se a prevalência e a contagem parasitária das diferentes espécies de helmintos de ovinos provenientes da microrregião de Jaboticabal, região Noroeste de São Paulo. Para tanto, foram utilizados 66 animais naturalmente infectados, de quatro a 36 meses de idade, criados em regime extensivo. Os resultados necroscópicos revelaram a presença de sete gêneros e 12 espécies, com a seguinte prevalência e a média de parasitismo: Haemonchus contortus: 100,0% (2947,2; Trichostrongylus colubriformis: 90,9% (3048,8; Cooperia curticei: 56,0% (256,5; Oesophagostomum columbianum: 48,4% (36,0; Cooperia punctata: 30,3% (94,5; Trichostrongylus axei: 22,7% (26,5; Strongyloides papillosusi: 19,6% (83,0; Haemonchus contortus (L4: 7,5% (17,2; Cooperia pectinatai: 10,6% (12,9; Trichuris ovis: 10,6% (0,6; Cooperia spatulata 4,5% (0,3; Capillaria bovis: 4,5% (0,1. A carga parasitária média foi de 6.524,7 helmintos por animal. Haemonchus contortus (Adultos e L4 e Trichostrongylus colubriformis corresponderam a 45,4% e 46,7% da carga parasitária média total, respectivamente. Pode-se concluir que as duas espécies de helmintos mais abundantes e importantes da microrregião de Jaboticabal/São Paulo foram Trichostrongylus colubriformis e Haemonchus contortus, sendo que essas duas espécies perfizeram 92,1% da distribuição percentual dos helmintos recolhidos de todos os animais. Tais resultados demonstram a importância em se realizar um monitoramento das contagens de ovos por grama de fezes (OPG dos rebanhos desta região, quando o método FAMACHA for empregado em uma determinada propriedade, uma vez que este método de controle, geralmente, não permite diagnosticar os danos/sinais clínicos desencadeados nos animais pelo T. colubriformis, em função de essa espécie não possuir hábito de hematofagismo sobre os hospedeiros.

Geochemistry of Early Frasnian (Late Devonian) pyrite-ammonoid level in the Kostomłoty Basin, Poland, and a new proxy parameter for assessing the relative amount of syngenetic and diagenetic pyrite

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Pisarzowska, Agnieszka; Berner, Zsolt A.; Racki, Grzegorz

2014-07-01

Pyrite geochemistry (isotope and trace element composition, degree of pyritization, S/Corg ratio) was used in context of selected lithogeochemical parameters (major and trace elements, including sulphur, organic carbon, and δ13C of carbonate carbon) to constrain fluctuations in depositional conditions during the Early to Middle Frasnian carbon isotopic perturbation (punctata Event) in the Kostomłoty Basin, Poland. Based on the ratio between the sum of oxyanionic elements and transition metals in pyrite, a new proxy parameter (index of syngenetic pyrite, ISYP) is proposed for assessing the relative amount of syngenetic pyrite in a sample. The distribution of the ISYP along the Kostomłoty - Małe Górki section (upper Szydłówek to the basal Kostomłoty beds) is in concert with conclusions inferred from paleoecologic data and other geochemical parameters (degree of pyritization, S/Corg, δ34Spyrite). According to these, the lower segment of the Szydłówek Beds was deposited in a normally oxygenated environment, but undergoing increasing primary productivity in surface water, as indicated by an increase in δ13Ccarb and in Cu/Zr ratio in bulk rock, which triggered the periodic deposition of sediments slightly enriched in organic matter, notably within the pyrite-ammonoid level (= Goniatite Level). Fluctuating, but in general high S/Corg ratios, DOPR values and ISYP values suggest that during this time - against the background of a generally dysoxic environment - shorter or longer lasting episodes of more restricted (anoxic and possibly even euxinic) bottom water conditions developed. Low sedimentation rates enabled a continuous and practically unlimited supply of sulphate during bacterial sulphate reduction (BSR), which in turn led to a strong depletion of pyrite sulphur in 34S in this interval (constantly around -29‰). In contrast, below and above the Goniatite Level, higher δ34S values (up to + 3‰), are compatible with closed system conditions and higher

Brachiopods and stratigraphy of the Upper Devonian (Frasnian) succession of the Radlin Syncline (Holy Cross Mountains, Poland)

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Baliński, Andrzej; Racki, Grzegorz; Halamski, Adam T.

2016-06-01

The lower part of the Frasnian succession in the Radlin Syncline (Kielce-Łagów Synclinorium, southern region of the Holy Cross Mountains), in the two studied successions: Józefka at Górno and (for the first time) Radlin, consists of the rhythmic marly Szydłówek Beds, the fossil-rich limestones of the Wietrznia Beds (locally) and the atypically developed, calcareous Kostomłoty Beds. The carbon isotope chemostratigraphic pattern overall corresponds well to the global Early-Middle Frasnian biogeochemical perturbation, even if the major punctata positive excursion is only fragmentarily recorded in the Kostomłoty intrashelf basin. Two brachiopod assemblages are abundantly represented in both sections: the Phlogoiderhynchus polonicus Assemblage, typical of the Szydłówek Beds, and the Biernatella lentiformis Assemblage, limited to the middle part of the Wietrznia Beds. Both are highly dominated by the index species. Twenty nine lower Frasnian brachiopod species (Craniida - 1 species, Strophomenida - 1, Productida - 2, Protorthida - 1, Orthida - 5, Pentamerida - 1, Rhynchonellida - 4, Atrypida - 4, Athyridida - 3, Spiriferida - 4, Spiriferinida - 3) are described from the Szydłówek and Wietrznia Beds. Seven new species are introduced: Skenidioides cretus Halamski sp. nov., Biernatium minus Baliński sp. nov., Monelasmina montisjosephi Baliński sp. nov., Atryparia (Costatrypa) agricolae Halamski and Baliński sp. nov., Davidsonia enmerkaris Halamski sp. nov., Leptathyris gornensis Baliński sp. nov., and Echinocoelia parva Baliński sp. nov. Davidsonia enmerkaris Halamski sp. nov. is intermediate between Davidsonia Bouchard-Chantereaux, 1849 and Rugodavidsonia Copper, 1996 and is the youngest known representative of the suborder Davidsonioidea Copper, 1996. Skenidioides cretus Halamski sp. nov. is the last representative of the genus. Statistical investigation of a large sample of Spinatrypina (Exatrypa) explanata did not confirm the existence of two dimorphic

A multiplex PCR-based method to identify strongylid parasite larvae recovered from ovine faecal cultures and/or pasture samples.

Science.gov (United States)

Bisset, S A; Knight, J S; Bouchet, C L G

2014-02-24

A multiplex PCR-based method was developed to overcome the limitations of microscopic examination as a means of identifying individual infective larvae from the wide range of strongylid parasite species commonly encountered in sheep in mixed sheep-cattle grazing situations in New Zealand. The strategy employed targets unique species-specific sequence markers in the second internal transcribed spacer (ITS-2) region of ribosomal DNA of the nematodes and utilises individual larval lysates as reaction templates. The basic assay involves two sets of reactions designed to target the ten strongylid species most often encountered in ovine faecal cultures under New Zealand conditions (viz. Haemonchus contortus, Teladorsagia circumcincta, Trichostrongylus axei, Trichostrongylus colubriformis, Trichostrongylus vitrinus, Cooperia curticei, Cooperia oncophora, Nematodirus spathiger, Chabertia ovina, and Oesophagostomum venulosum). Five species-specific primers, together with a pair of "generic" (conserved) primers, are used in each of the reactions. Two products are generally amplified, one by the generic primer pair regardless of species (providing a positive PCR control) and the other (whose size is indicative of the species present) by the appropriate species-specific primer in combination with one or other of the generic primers. If necessary, any larvae not identified by these reactions can subsequently be tested using primers designed specifically to detect those species less frequently encountered in ovine faecal cultures (viz. Ostertagia ostertagi, Ostertagia leptospicularis, Cooperia punctata, Nematodirus filicollis, and Bunostomum trigonocephalum). Results of assays undertaken on >5500 nematode larvae cultured from lambs on 16 different farms distributed throughout New Zealand indicated that positive identifications were initially obtained for 92.8% of them, while a further 4.4% of reactions gave a generic but no visible specific product and 2.8% gave no discernible

Phylogenetic relationships and divergence dates of softshell turtles (Testudines: Trionychidae) inferred from complete mitochondrial genomes.

Science.gov (United States)

Li, H; Liu, J; Xiong, L; Zhang, H; Zhou, H; Yin, H; Jing, W; Li, J; Shi, Q; Wang, Y; Liu, J; Nie, L

2017-05-01

The softshell turtles (Trionychidae) are one of the most widely distributed reptile groups in the world, and fossils have been found on all continents except Antarctica. The phylogenetic relationships among members of this group have been previously studied; however, disagreements regarding its taxonomy, its phylogeography and divergence times are still poorly understood as well. Here, we present a comprehensive mitogenomic study of softshell turtles. We sequenced the complete mitochondrial genomes of 10 softshell turtles, in addition to the GenBank sequence of Dogania subplana, Lissemys punctata, Trionyx triunguis, which cover all extant genera within Trionychidae except for Cyclanorbis and Cycloderma. These data were combined with other mitogenomes of turtles for phylogenetic analyses. Divergence time calibration and ancestral reconstruction were calculated using BEAST and RASP software, respectively. Our phylogenetic analyses indicate that Trionychidae is the sister taxon of Carettochelyidae, and support the monophyly of Trionychinae and Cyclanorbinae, which is consistent with morphological data and molecular analysis. Our phylogenetic analyses have established a sister taxon relationship between the Asian Rafetus and the Asian Palea + Pelodiscus + Dogania + Nilssonia + Amyda, whereas a previous study grouped the Asian Rafetus with the American Apalone. The results of divergence time estimates and area ancestral reconstruction show that extant Trionychidae originated in Asia at around 108 million years ago (MA), and radiations mainly occurred during two warm periods, namely Late Cretaceous-Early Eocene and Oligocene. By combining the estimated divergence time and the reconstructed ancestral area of softshell turtles, we determined that the dispersal of softshell turtles out of Asia may have taken three routes. Furthermore, the times of dispersal seem to be in agreement with the time of the India-Asia collision and opening of the Bering Strait, which

Valorização de landoltia punctata proveniente de tratamento de esgoto doméstico através de hidrólise enzimática visando a produção de etanol

OpenAIRE

Costa, Flávia Nunes

2014-01-01

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico, Programa de Pós-Graduação em Engenharia de Alimentos, Florianópolis, 2014. A necessidade de se explorar novas fontes de energia renovável e limpa vem exigindo o desenvolvimento de biocombustíveis, por serem considerados uma alternativa promissora aos combustíveis tradicionais. Nesse contexto, as lemnas vêm ganhando interesse em pesquisas, por não competirem com culturas alimentícias e terras produtivas par...

Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul Congenital defects in ruminants in southern Brazil.

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Clairton Marcolongo-Pereira

2010-10-01

ádicos. Em bubalinos todas as malformações diagnosticadas são hereditárias (artrogripose, miotonia e dermatose mecânico-bolhosa ou suspeitas de serem hereditárias (albinismo, megaesôfago e hidranencefalia/hipoplasia cerebelar. Concluiu-se que os defeitos congênitos esporádicos têm pouca importância nas três espécies e que defeitos congênitos de causas ambientais, apesar de pouco freqüentes, podem trazer prejuízos econômicos importantes em determinadas regiões ou estabelecimentos. As doenças hereditárias são importantes não só pela mortalidade mas, também, pela possibilidade de disseminação de genes indesejáveis nas diferentes raças. Em bubalinos a alta frequência de doenças hereditárias na raça Murrah foi atribuída a alta consanguinidade do rebanho brasileiro. Medidas de controle devem ser tomadas para evitar-se a contínua disseminação, principalmente dos genes recessivos, em bubalinos e bovinos.Congenital defects in cattle, sheep and buffalo were studied through a review of necropsy files of the Regional Diagnostic Laboratory of the Veterinary Faculty at the Federal University of Pelotas between 1978 and 2009. The occurrence of congenital defects in cattle, sheep and buffalo were 0.88%, 0.36%, and 7.54%, respectively, from all specimens received. Cattle congenital defects of undetermined etiology represented 45.83% of the congenital defects, known hereditary and probably hereditary diseases represented 6.25%, and 29.16%, respectively, and defects associated to environmental factors represented 16.66%. In cattle, of the 48 congenital defects observed 21 (43.75% affected the skeletal system (chondrodysplasia, scoliosis, lateral deviation of the mandible, palatoschisis and unclassified defect, nine (18.75% affected the central nervous system (hypoplasia of olfatory and frontal lobes, cerebellar cortical degeneration, spina bifida, congenital hypomielinogenesis, hereditary hypermetria, cerebellar hypoplasia, and pachygiria, nine (18.75% the

浮萍多样性对富营养化水体净化效果的影响

Institute of Scientific and Technical Information of China (English)

李阳; 成家杨; 钟钰; 唐杰

2017-01-01

【目的】通过研究浮萍物种多样性对净化富营养化水体效果及其对浮萍生物质积累的影响,为未来利用浮萍混养组合修复富营养化水体及开发浮萍生物质提供理论依据。【方法】分别将青萍（Lemna aequinoctialis LC33）、少根紫萍（Landoltia punctata LC06）和多根紫萍（Spirodela polyrhiza LC15）进行单独和混合培养,测量其对富营养化水体中氮、磷的去除率,同时分析混养组合的生物质含量。【结果】由少根紫萍和多根紫萍构成的混养组合对水体中硝氮（NO3--N）、总氮（TN）和总磷（TP）的去除率最高,分别为97.05%、95.00%和97.64%;由3种浮萍构成的混养组合对水体中氨氮（NH4＋-N）的去除率最高,达98.17%。由青萍和少根紫萍构成的混养组合及由少根紫萍和多根紫萍构成的混养组合具有更高的生物量增长率,由青萍和少根紫萍构成的混养组合可积累更多的淀粉,由少根紫萍和多根紫萍构成的混养组合可积累更多的粗蛋白。【结论】适当的浮萍混养搭配不仅可提高富营养化水体净化效果,还能促进生物质的积累。

New Mediterranean Biodiversity Records (July 2016

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T. DAILIANIS

2016-07-01

. Lebanon: an array of records of 5 alien and one native Mediterranean species is reported by citizen-scientists; the Pacific jellyfish Phyllorhiza punctata and the Indo-Pacific teleosteans Tylerius spinosissimus, Ostracion cubicus, and Lutjanus argentimaculatus are reported from the Lebanese coast, the latter notably being the second record for the species in the Mediterranean Sea since 1977; the native sand snake-eel Ophisurus serpens, rare in the eastern Mediterranean, is reported for the first time from Lebanon, this being its easternmost distribution range; finally, a substantial number of sightings of the lionfish Pterois miles further confirm the current establishment of this lessepsian species in the Levantine.

Nematode burdens of pastured cattle treated once at turnout with eprinomectin extended-release injection.

Science.gov (United States)

Rehbein, S; Baggott, D G; Johnson, E G; Kunkle, B N; Yazwinski, T A; Yoon, S; Cramer, L G; Soll, M D

2013-03-01

The efficacy of eprinomectin in an extended-release injection (ERI) formulation was evaluated against infections with third-stage larvae or eggs of gastrointestinal and pulmonary nematodes in cattle under 120-day natural challenge conditions in a series of five studies conducted in the USA (three studies) and in Europe (two studies). For each study, 30 nematode-free (four studies) or 30 cattle harboring naturally acquired nematode infections (one study) were included. The cattle were of various breeds or crosses, weighed 107.5-273 kg prior to treatment and aged approximately 4-11 months. For each study, animals were blocked based on pre-treatment bodyweight and then randomly allocated to treatment: ERI vehicle (control) at 1 mL/50 kg bodyweight or Eprinomectin 5% (w/v) ERI at 1 mL/50 kg bodyweight (1.0 mg eprinomectin/kg) for a total of 15 and 15 animals in each group. Treatments were administered once on Day 0 by subcutaneous injection in front of the shoulder. In each study, all animals grazed one naturally contaminated pasture for 120 days. At regular intervals during the studies, fecal samples from all cattle were examined for nematode egg and larval counts. In four studies pairs of tracer cattle were used to monitor pasture infectivity at 28-day intervals before and/or during the grazing period. All calves were weighed before turnout onto pasture and at regular intervals until housing on Day 120. For parasite recovery, all study animals were humanely euthanized 27-30 days after removal from pasture. Cattle treated with Eprinomectin ERI had significantly (p92%: Dictyocaulus viviparus (adults and fourth-stage larvae (L4), Bunostomum phlebotomum, Cooperia curticei, Cooperia oncophora, Cooperia punctata, Cooperia surnabada, Cooperia spp. inhibited L4, Haemonchus contortus, Haemonchus placei, Haemonchus spp. inhibited L4, Nematodirus helvetianus, Nematodirus spp. inhibited L4, Oesophagostomum radiatum, Oesophagostomum spp. inhibited L4, Ostertagia leptospicularis

太湖流域浮萍种质资源及其生长水环境调查

Institute of Scientific and Technical Information of China (English)

张飞; 唐杰; 马炯; 成家杨

2016-01-01

对太湖流域多个县(市)浮萍分布情况进行调查,观测各地浮萍种类及其生长水体的水质状况,探讨水体pH值,铵态氮、硝态氮、总氮、总磷含量及其与浮萍分布的关系.调查结果表明,浮萍适宜生长在静止的水体中,流动的河流中较为少见.太湖流域采集到3属5种浮萍,分别为Spirodela polyrrhiza、Lemna minor、Lemna turionifera、Lemna aequinoctialis、Landoltia punctata.其中,紫萍属(Spirodela genera)和青萍属(Lemna genera)分别占到49％和37％,为该地区主要的浮萍种类.少根紫萍适宜在中性的环境中生长,而紫萍适宜生长在偏碱性的水体中;相对而言,青萍生长的pH范围更广,在pH值6.34 ～ 8.78均有分布.太湖流域浮萍生长水环境中氮、磷含量范围较广,铵态氮、硝态氮、总氮和总磷质量浓度范围分别为0.28～19.67、0.01 ～5.18、0.10 ～24.62、0.03 ～ 2.45 mg/L.尚未发现自然环境中浮萍的分布与水体氮、磷含量间的必然联系.调查还发现,太湖流域浮萍淀粉含量在10.95％～23.27％之间,均值为15.95％.在太湖流域水生植物修复过程中,可优先考虑利用当地优势浮萍品种及不同品种浮萍的共生复合系统,构建浮萍塘生态系统,来去除水体中的氮、磷等营养物质.

Preliminary mineralogical and paleoenvironmental study of the diatomites from Adamclisi, South Dobrogea, Romania

Science.gov (United States)

Dumitras, Delia-Georgeta; Sebe-Radoi, Oana-Gabriela; Marincea, Stefan; Costea, Constantin

2017-04-01

Diatomite samples taken from the Urluia - Adamclisi localities, South Dobrogea region (Romania) have been studied by X-ray fluorescence, wet-chemical analysis, scanning electron microscopy (SEM), FTIR and X-ray powder diffraction. The diatomaceous earth from Adamclisi occurs as beds and lenses in alternance with bentonitic clays and limestones. The diatomite levels are chalk-like, soft, friable, earthy, very fine-grained, and have a white - yellow color. The mineralogy of all but one sample is characterized by the presence of quartz, amorphous silica, feldspars and clay minerals. Based on the broad hump registered between 15 and 20° 2 theta on XRD patterns and on the characters and intensities of the bands centered around 3350 and 1630 cm-1 in the FTIR spectra, the amorphous silica from the diagenesis-affected diatom frustules was identified as opal-A. The associated mineral species are quartz (up to 5 wt.%), opal-Ct (up to 15 wt%), clay minerals (up to 60 wt.%), and minor feldspar (up to 20 wt.%). The micro-paleontological study shows that benthic pennate diatoms prevail (more than 60%), with a low rate of species diversity. Large chain-forming centric diatoms also occur together with other microfossils (dinoflagellates, phytolites, sponge spicules, different types of fish teeth) assemblages common for the Sarmatian (middle Miocene) marine deposits of Eastern Paratethys. The diatomaceous formation afforded exceptional fossilization. The diatom assemblages characterize a shallow marine basin environment, with littoral or freshwater contributions. Both at the basis and on the top of the profile, the marine diatoms prevail. At the basis of profile, the marine species (e.g., Actinocyclus ehrenbergii, Amphora crassa, Amphora crassa-punctata, Caloneis liber, Camylodiscus kutzingii, Grammatophora stricta, etc.) form up to 80 % of the rock volume, being associated with marine-brackish species such as Achnanthes brevipes and Cocconeis scutelum (up to 25 %) and with

The influence of growth conditions and duckweed diversity on the content of soluble sugar%生长条件和多样性对浮萍可溶性糖含量的影响

Institute of Scientific and Technical Information of China (English)

李阳; 成家杨; 钟钰; 唐杰

2016-01-01

To explore the effects of growth conditions and duckweed species diversity on duckweed growth and soluble sugar productivity,three strains (Lemna aequinoctialis LC33,Landoltia punctata LC06 and Spirodela polyrhiza LC15) were employed to culture either in polyculture or in monocultures under different conditions (temperature,light intensity,nutrient concentration).Results showed that the duckweed accumulated more soluble content and biomass under the low temperature (20 ℃),high light intensity (10 000 lx) and lower nutrient concentration (0 mg N/L,0 mg P/L).Overall,several duckweed polyculture had higher soluble sugar content than those in monoculture.Specifically,the soluble sugar content of the poluculture composed of three strains was the highest when the temperature was low;the soluble sugar content of the polycultures composed of two or three strains was higher than those in monoculture when the light intensity was high;the polyculture composed of two strains accumulated more soluble content under the low nutrient concentration.Therefore,the growth conditions and species diversity had a great influence on soluble sugar content of duckweed.The appropriate polyculture is helpful for improving the biomass production of the whole duckweed cultivation system.%以Lemna aequinoctialis LC33,Landoltia punc tataLC06和Spirodela polyrhiza LC15作为供试材料,在不同环境条件(温度、光照、营养)下对其进行单独和混合培养,研究生长条件和物种多样性对可溶性糖含量和生物量的影响.结果表明,低温(20℃)、强光照(10000lx)、低营养(N为0mg/L,P为0mg/L)的条件更有利于浮萍可溶性糖的积累.此外,适当的混养有助于浮萍可溶性糖的积累,如由3种浮萍组成的混养体系在低温条件下可溶性糖含量较高;由两种或3种浮萍组成的混养体系在强光照条件下可溶性糖含量较高;由两种浮萍组成的混养体系在低营养条件下可溶性糖含量较高.由此可见,生长条件和物种多样性与可溶性糖含量密切相关,适当的混合培养可以提高整个体系的生物质产量.

Seed predation by mammals in forest fragments in Monteverde, Costa Rica

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Federico A Chinchilla

2009-09-01

Full Text Available Few studies have evaluated seed predation in fragmented landscapes, in which lower species diversity is expected to modifying ecological interactions. The rates of seed removal by mammals were investigated in a continuous forest and two fragmented patches of Premontane Tropical Moist Forest, in Monteverde, Costa Rica. The composition of mammalian seed-predators in each site was recorded during 16 months. The removal of four native tree species of experimental seeds: Ocotea valeriana and Ocotea whitei (Lauraceae, Panopsis costaricensis (Proteaceae and Billia colombiana (Hippocastanaceae in forest understories was followed during two annual fruiting seasons for each species. Results indicated similar species composition of seed-predators between continuous forest, the largest fragment (350 ha. However the smaller fragment (20 ha, had fewer seed predators. In this fragment, the specialized seed predator Heteromys desmarestianus (Rodentia was more abundant. Unexpectedly, seed-predation in the two forest fragments and the continuous forest did not differ statistically for any of the seed species. Apparently, the higher abundance of small seed-predators in the fragments was compensated by the absence of medium and large seed-predators, like Agouti paca, Dasyprocta punctata (both Rodentia and Pecari tajacu (Artiodactyla recorded in continuous forest. Removal of experimentally-placed seeds was higher when the number of naturally occurring seeds in the sites was lower. This result could best be attributed to differential satiation of seed predators rather than differences in richness or abundance of seed predators. Rev. Biol. Trop. 57 (3: 865-877. Epub 2009 September 30.Pocos estudios han evaluado la depredación de semillas en ambientes fragmentados, en éstos la menor diversidad de especies debe estar modificando las interacciones ecológicas. Se investigó la remoción de semillas por mamíferos en un bosque continuo y dos fragmentos en Monteverde

Catalogue of Tenebrionidae (Coleoptera of North America

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Yves Bousquet

2018-01-01

Conte, 1858]; Metablapylis Blaisdell, 1909 [Eleodes nigrina LeConte, 1858]; Steneleodes Blaisdell, 1909 [Eleodes longicollis LeConte, 1851]; Scaptes Champion, 1886 [Scaptes squamulatus Champion, 1886 (= Asida tropica Kirsch, 1866]; Aspidius Mulsant and Rey, 1859 [Blaps punctata Fabricius, 1792]; Cryptozoon Schaufuss, 1882 [Cryptozoon civile Schaufuss, 1882]; Halophalerus Crotch, 1874 [Phaleria rotundata LeConte, 1851]; Dignamptus LeConte, 1878 [Dignamptus stenochinus LeConte, 1878]. Two species previously known from South America [Nilio lebasi J. Thomson and Platydema erotyloides Chevrolat] are reported for the first time from North America.