Molecular genetics of hemophilia A: Clinical perspectives

Since the publication of the sequence of the factor VIII (F8) gene in 1984, a large number of mutations that cause hemophilia A have been identified and a significant progress has been made in translating this knowledge for clinical diagnostic and therapeutic purposes. Molecular genetic testing is used to determine the carrier status, for prenatal diagnosis, for prediction of the likelihood of inhibitor development, and even can be possibly used to predict responsiveness to immune tolerance induction. Phenotypic heterogeneity of hemophilia is multifactorial, mainly related to F8 mutation but other factors contribute especially to coinheritance of prothrombotic genes. Inhibitordevelopment is mainly related to F8 null mutations, but other genetic and non genetic factors could contribute. This review will focus on the genetic aspects of hemophilia A and their application in the clinical setting and the care of patients and their familie

Review: Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease

Gaucher disease (GD) is the most frequently encountered lysosomal storage disease causedby inborn defects of themembrane-bound lysosomal enzyme, acid b-glucosidase or glucocerebrosidase. This defective activity causes an accumulation of glucocerebroside (glucosylceramide) in the lysosomes of cells derived from the monocyte/macrophage lineage. Glucocerebroside-engorged cells, termed Gaucher cells, infiltrate various organs, leading to multisystemic abnormalities. The mechanisms by which systemic and organ-specific involvement is propagated or initiated remain unclear. Studies are increasingly recognizing the role of immune dysregulation and inflammation in the pathogenesis of Gaucher disease. Many cytokines have been reported as mediators of tissue damage in Gaucher disease. Bone and lung disease are serious causes of morbidity in non neuronopathic Gaucher disease. The progress in the understanding of the pathogenesis or relevant mechanism(s) of Gaucher disease is providing insights into additional therapeutic targets, enabling the potential for optimized patient outcomes with the use of adjunctive or supplemental agents.KEYWORDS : Cytokines; Gaucher disease; Pathogenesis; Bone disease; Pulmonary diseas

The Development of the Wayang Panji Nusantara Network Model to Strengthen the Articulation of the Panji Culture in Southeast Asia

Wayang Panji is a puppet based on Panji stories that developed in Southeast Asia. The story of Panji in the art of wayang is found in Malang mask puppet art, Krucil Kediri puppets, Madurese puppeteers’ puppets, Banjar Kalimantan puppets, Thai Siamese puppets, and wayang puppets in Kelantan Malaysia. The development of Panji culture in Indonesia has been partly through the Panji Nusantara Week activity, which is held once a year, and features performances of Panji-themed arts in several cities in Indonesia. The Panji Cultural Week, which has been held for the past few years, has yet to touch all areas of Panji-themed art, both in Indonesia and abroad. Panji wayang art, which is one of the Panji cultural products, is overlooked by practitioners of Panji culture, even though Panji wayang art is spread across several regions in Indonesia and in several Southeast Asian countries. This research sought to develop Panji-themed wayang art in the Southeast Asian region, so that it has parallels with other Panji-themed arts, through the development of the Panji wayang network in the Southeast Asian region. The Panji Nusantara wayang network aims to build cultural communication between actors and observers of Panji wayang art in the Southeast Asia region and serve as a publication media for Panji puppets for the general public. The cultural communication media was formed as a virtual collaborative performance event, while the wayang Panji publication media is in the form of a digital application-based platform that contains a database for the Panji Nusantara puppet, profiles of the Panji wayang artists, and a roster of the performance activities. This research used the Willis design development method combined with ethnographic methods. The research data were collected in East Java and Kelantan Malaysia. Keywords: Development, puppet, panji nusantara, southeast asi

Interleukin -2 ( Il-2 ) and Gamma Interferon ( Ifn ? ) of Lymphocyte Culture Supernatant in Iron Deficiency Anemia Patients with Infection

Iron is an essential nutrient for every living cells because of it role as molecule fortransport of oxygen, as well as DNA synthesis through synthesis of ribonucleotidereductase. Iron deficiency anemia patients, especially pregnant women and children aremore susceptible to infection because of deterioration of their immune response. This wassupported by findings of decreased in phagocytic activities of white blood cells and Tcelllymphocyte proliferation impairment. Iron deficiency anemia (IDA) patients alsoaffect working capacities hence diminishing working outcomes. Although the underlyingmechanism of immune defect in iron deficiency anemia is not clearly understood,multifactor events considered play their contributing roles such as abnormality ofribonucleotide reductase enzym, impairment of T-cell proliferation and activities, alteredcytokine production of IL-2 and IFN?.The study was done to asses the relationship of IL-2 and gamma IFN withinfection in IDA patients on lymphocyte culture supernatant of IDA patients. Study wasconducted on cross-sectional analytic design. Sixty-four iron deficiency anemia patientstreated in Sanglah General Teaching Hospital were recruited, and 31 (48.4%) out of 64IDA patients were man and 33 (51.6%) women, have been selected for the study. Thisstudy found 17 (26.7%) IDA patients with infection, aged 38 ± 14.48 years and 47(73.3%) IDA patients without infection, with age average of 40.5 ± 14.4 years. Allvariables of data characteristics examined did not indicate any statistical significantdifference between group of IDA patients with infection and those without infection. Theaverage level of hemoglobin between the two groups did not differ statistically. Similarresult was obtained if samples were differentiated into severe (Hb< 7g/dl) and mildanemia. The study also revealed that there were no differences of cytokine level observedbetween older and younger age (upper and below 44.5 years) in IDA patients withinfection and without infection. Furthermore, no differences of cytokine level were foundbased on gender between IDA male 10.9 (8.60 – 12,65) (pg/l) patients and IDA femalepatients 10.6 (7.50 – 13.43) (pg/l) with Z -0.490, p =0.624. Nevertheless, significantdifferences were noted between supernatant of IL-2 and IFN? in IDA patients withinfection when compared to IDA patients without infection (Z= - 2.509, p= 0.012 forsupernatant IL-2; and Z= -2.569, p= 0.010 for supernatant IFN?).The study conclusion is that level of IL-2 and IFN? from lymphocyte culturesupernatant of patient suffered from IDA with infection is significantly lower whencompared to IDA patient without infection. It therefore summarized that lower level ofIL-2 and gamma IFN in patients suffered from iron deficiency impaired their immune response to certain infections therefore this findings support the theory that IDA patientsmore susceptible to get infected

Polarization of Panji Tradition in the Visualization of Archipelago Puppet: A Comparison of Panji-themed Puppet Characters in Indonesia and Malaysia

Panji-themed puppets are puppets that enact a story from the panaji chronicle. These puppets are found across the island of java and several other areas in the archipelago. Panji-themed puppets can be found in krucil puppetry in java and in siamese puppetry in kelantan Malaysia. While a krucil puppet uses a panji story as the main story, in siamese puppetry, a panji story is the branch of the story. The difference in the characters of a krucil puppet and a siamese puppet is related to the interaction of panji tradition with local traditions. Keywords: Panji tradition, puppet, Indonesi

Triethylphosphite as a network forming agent enhances in-vitro biocompatibility and corrosion protection of hybrid organic-inorganic sol-gel coatings for Ti6Al4V alloys

The biocompatibility and life of metallic implants can be enhanced through improving the biocompatibility and corrosion protection characteristics of the coatings used with these materials. In this study, triethylphosphite (TEP) was used to introduce phosphorus into organic-inorganic hybrid silica based sol gel coatings prepared using γ-methacryloxypropyltrimethoxysilane and tetramethylorthosilicate. Addition of TEP dramatically increased the rate of intermolecular condensation and resulted in materials showing greater cross linking. Protein (fibrinogen) uptake, osteoblast in vitro biocompatibility and corrosion resistance was enhanced in coatings containing TEP. Although higher concentrations of phosphorus supported the greatest improvement in biocompatibility, a compromise in the phosphorus concentration used would be required if corrosion resistance was most desirable parameter for optimisation. Films prepared by dip coating on Ti6Al4V alloys from these sols offer a promising alternative to wholly metallic prostheses

Konsekvenser for Ellingsen Seafood ved at ferjesambandet Skutvik-Svolvær via Skrova har blitt redusert

1.1.2008 ble Lofotens fastlandsforbindelse (LOFAST) åpnet og som en konsekvens av dette ble ferjetilbudet mellom Skutvik- Svolvær via Skrova redusert. Hovedårsaken til dette, var at større andeler av trafikken som da gikk med Skutviksambandet nå skulle genereres gjennom ferjesambandene Bodø- Moskenes i sør og Lødingen- Bognes i nord. På bakgrunn av dette har vi i denne oppgaven belyst hva som blir konsekvensene for fiskeribedriften Ellingsen Seafood lokalisert på Skrova. Ut fra dette har vi drøftet følgende hovedproblemstilling: Hvilke konsekvenser har det reduserte ferjetilbudet hatt for Ellingsen Seafood? Våre funn viser at Ellingsen Seafood har fått relativt store kostnadsøkninger som følger av det reduserte ferjetilbudet. De største kostnadsøkningene kommer som følger av at transportøren av fiskekasser har måttet lagt om transportruten sin. Dette har ført til en markant økning i prisen på fiskekasser. Den nye transportruten til transportøren har også ført til økte lønnskostnader, som følger av sene leveringer. Videre har det reduserte ferjetilbudet ført til økt usikkerhet for leveringer, noe som har gjort at Ellingsen Seafood har økt lageret på fiskekasser. I tillegg til hovedproblemstillingen, har vi redegjort i to underproblemstillinger, hvilke konsekvenser det reduserte ferjetilbudet har hatt for det øvrige næringslivet på Skrova, samt hvilke konsekvenser lokalbefolkningen har hatt. Våre funn viser her at det er blitt vanskeligere for kundene å komme seg til Skrova. Dette på grunn av at mange kunder kommer sørfra og den reduserte frekvensen på strekningen gjør at Skrova blir mindre tilgjengelig. Turistnæringen har merket en viss nedgang i omsetning. Dette skyldes hovedsakelig at færre kommer innom Skrova på snarvisitter. For lokalbefolkningen har det reduserte ferjetilbudet ført til færre valgmuligheter for transport hvis de skal sørover. Den lave frekvensen fører derfor til at lokalbefolkningen må velge alternative reiseruter, noe som medfører lengre reisetid og høyere betalbare kostnader

Estimation of genetic diversity between three Saudi sheep breeds using DNA markers

The genetic variation of Najdi, Harri and Awassi breeds of Saudi sheep prevailing in Raniah province of Makka district were assessed and compared to Sudanese Desert sheep using random amplified polymorphic DNA polymerase cahin reaction (RAPD-PCR) technique. Five primers successfully amplified distinguishable 40  bands with an average of 96% polymorphism revealing that Saudi sheep breeds possess the needed genetic variation required for further genetic improvement. The resulted dendrogram showed that, there are two main separate clades. The Desert sheep is genetically distant and appeared as out-group from the Saudi sheep breeds. The first main clade included all of the Najdi individuals and only two individuals from Harri breed. While, the second main clade comprised two subgroups, the first one included individuals from Harri breed and the second included both Harri and Awassi individuals. The cluster analysis shows that Najdi breed is  genetically different from both Harri and Awassi and that some Harri individuals showed genetic closeness to Awassi. The present study will help to clarify the image of the genetic diversity of these local Saudi sheep breeds in Raniah province and should be followed by further studies using advanced DNA markers and all  available breeds in the kingdom to get the precise estimation of the phylogeny of these local genetic resources.Key words: Dendrogram, biodiversity, Sudanese sheep, random amplified polymorphic DNA (RAPD), Saudi sheep