Sinkronisasi Aturan Hukum Dalam Sistem Desentralisasi Regulasi Bagi Daerah Otonomi Khusus Papua

Synchronization of the rule of law in the decentralized regulatory framework for the special autonomous area of Papua is discussed. This legal research employs a normative juridical approach supported by an empirical juridical description, namely a deductive study that begins with an analysis of the articles in the laws and regulations governing the issue of synchronizing legal rules pertaining to decentralization in Papua Province. Law Number 21 of 2001 concerning Special Autonomy for the Papua Province represents the political will of the Unitary State of the Republic of Indonesia, to the people of Papua, based on the consideration that the administration of development implementation in the Papua Province during its integration with Indonesia has not fully fulfilled the sense of justice, achieved prosperity and realize law enforcement and have not fully fulfilled the respect for human dignity.Keywords: Synchronization of the Rule of Law; Decentralized System; Special Autonomous Region AbstrakPembahasan mengenai sinkronisasi aturan hukum dalam sistem desentralisasi regulasi bagi daerah otonomi khusus Papua. Metode pendekatan yang dipergunakan dalam penelitian hukum ini adalah metode pendekatan yuridis normatif yang didukung dengan yuridis empiris dengan merinci uraian yaitu suatu penelitian yang secara deduktif dimulai analisa terhadap pasal-pasal dalam peraturan perundang-undangan yang mengatur terhadap permasalahan sinkronisasi aturan hukum terkait Desentralisasi di Provinsi Papua. Undang-Undang Nomor 21 Tahun 2001 tentang Otonomi Khusus bagi Provinsi Papua, merupakan political will Negara Kesatuan Republik Indonesia, kepada rakyat Papua, dengan dasar pertimbangan bahwa penyelenggraan pemerintahan pelaksanaan pembangunan di Provinsi Papua selama berintegrasi dengan Indonesia belum sepenuhnya memenuhi rasa keadilan, mencapai kesejahteraan dan mewujudkan penegakan hukum dan belum sepenuhnya memenuhi rasa penghormatan terhadap hak- hak asasi manusia, khususnya orang asli Papua. Dalam penulisan ini penulis menggunakan metode kualitatif deskriptif denga hasil penelitian mengenai aturan hukum terkait desentralisasi di provinsi papua.Kata Kunci: Sinkronisasi Aturan Hukum, Sistem Desentralisasi, Daerah Otonomi Khusu

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

© 2020, The Author(s). Previously we reported the identification of a homozygous COL27A1 (c.2089G\u3eC; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, MIM #615155); a rare osteochondrodysplasia characterized by short stature, congenital bilateral hip dysplasia, carpal coalitions, and scoliosis. We now report segregation of this variant in five probands from the initial clinical report defining the syndrome and an additional family of Puerto Rican descent with multiple affected adult individuals. We modeled the orthologous variant in murine Col27a1 and found it recapitulates some of the major Steel syndrome associated skeletal features including reduced body length, scoliosis, and a more rounded skull shape. Characterization of the in vivo murine model shows abnormal collagen deposition in the extracellular matrix and disorganization of the proliferative zone of the growth plate. We report additional COL27A1 pathogenic variant alleles identified in unrelated consanguineous Turkish kindreds suggesting Clan Genomics and identity-by-descent homozygosity contributing to disease in this population. The hypothesis that carrier states for this autosomal recessive osteochondrodysplasia may contribute to common complex traits is further explored in a large clinical population cohort. Our findings auNorthwell Healthnt our understanding of COL27A1 biology and its role in skeletal development; and expand the functional allelic architecture in this gene underlying both rare and common disease phenotypes

Career guidance work with high school students: innovative approaches

The article considers career guidance as a process of professional self-determination of senior pupils, as well as ways of career guidance development among educational institutions of Sverdlovsk region. The data of sociological researches showing the level of professional self-determination of schoolchildren are givenРассматривается профориентация как процесс профессионального самоопределения старшеклассников, описаны пути развития профориентации среди учебных заведений Свердловской области. Приведены данные социологических исследований, показывающие уровень профессионального самоопределения у школьнико

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

<p>Abstract</p> <p>Background</p> <p>Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes the entire <it>AVPR2 </it>locus and approximately half of the <it>Rho GTPase-activating protein 4 </it>(<it>ARHGAP4</it>) locus. ARHGAP4 belongs to the RhoGAP family, Rho GTPases are critical regulators of many cellular activities, such as motility and proliferation which enhances intrinsic GTPase activity.</p> <p>ARHGAP4 is expressed at high levels in hematopoietic cells, and it has been reported that an NDI patient lacking <it>AVPR2 </it>and all of <it>ARHGAP4 </it>showed immunodeficiency characterised by a marked reduction in the number of circulating CD3+ cells and almost complete absence of CD8+ cells.</p> <p>Methods</p> <p>PCR and sequencing were performed to identify the deleted region in the Japanese NDI patients. Immunological profiles of the NDI patients were analysed by flow cytometry. We also investigated the gene expression profiles of peripheral blood mononuclear cells (PBMC) from NDI patients and healthy controls in microarray technique.</p> <p>Results</p> <p>We evaluated subjects (one child and two adults) with 11.2-kb deletion that includes the entire <it>AVPR2 </it>locus and approximately half of the <it>ARHGAP4</it>. Hematologic tests showed a reduction of CD4+ cells in one adult patient, a reduction in CD8+ cells in the paediatric patient, and a slight reduction in the serum IgG levels in the adult patients, but none of them showed susceptibility to infection. Gene expression profiling of PBMC lacking <it>ARHGAP4 </it>revealed that expression of RhoGAP family genes was not influenced greatly by the lack of <it>ARHGAP4</it>.</p> <p>Conclusion</p> <p>These results suggest that loss of <it>ARHGAP4 </it>expression is not compensated for by other family members. ARHGAP4 may play some role in lymphocyte differentiation but partial loss of <it>ARHGAP4 </it>does not result in clinical immunodeficiency.</p

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin Sequence

Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3′ of SATB2 polyadenylation site cause a phenotype which is indistinguishable from that caused by SATB2 LOF mutations. This syndrome comprises long nose, small mouth, micrognathia, cleft palate, arachnodactyly and intellectual disability. These BPs map to a gene desert between PLCL1 and SATB2. We identified three putative cis-regulatory elements (CRE1–3) using a comparative genomic approach each of which would be placed in trans relative to SATB2 by all three BPs. CRE1–3 each bind p300 and mono-methylated H3K4 consistent with enhancer function. In silico analysis suggested that CRE1–3 contain one or more conserved SOX9-binding sites, and this binding was confirmed using chromatin immunoprecipitation on cells derived from mouse embryonic pharyngeal arch. Interphase bacterial artificial chromosome fluorescence in situ hybridization measurements in embryonic craniofacial tissues showed that the orthologous region in mice exhibits Satb2 expression-dependent chromatin decondensation consistent with Satb2 being a target gene of CRE1–3. To assess their in vivo function, we made multiple stable reporter transgenic lines for each enhancer in zebrafish. CRE2 was shown to drive SATB2-like expression in the embryonic craniofacial region. This expression could be eliminated by mutating the SOX9-binding site of CRE2. These observations suggest that SATB2 and SOX9 may be acting together via complex cis-regulation to coordinate the growth of the developing jaw

Reclaimed identity; a restaurant and dwellings in Klövsjö

With the increase in mountain tourism, visitors from all over the country and world travel to the scenic landscapes of northern Sweden to experience its nature during different seasons of the year. However, the high demand leads to an increased exploitation of the historic environments of the mountain villages. By exploring the concept of identity, delving into the theories of critical regionalism, and studying traditional building techniques, this thesis aims to synthesize these elements into a design that strikes a balance between honoring local identity and embracing change without resorting to imitation and historization. The central question explored is how a design proposal for a restaurant and dwellings in the mountain area of Klövsjö can be informed by the local identity. The project unfolds across three phases; theoretical studies, site analysis and design iterations, resulting in a design proposal. The project is situated in a small village named Klövsjö, located in the southern parts of Jämtland. On top of being a well-frequented destination for hiking, cross country and alpine skiing, the entire village of Klövsjö is part of a larger area of national interest for cultural environmental protection. Adjacent to Svartåstjärnen, the project site serves as a transitional space between the public amenities of the ski village and the private housing area, resulting in the mixed program of the project. Informed by the principles of log construction, the design proposal utilizes various techniques in accordance to the specific program of each building. These techniques range from demanding and robust log timbering methods to more lightweight versions that challenge traditional norms, creating a dialogue between tradition and innovation. The thesis concludes with a reflection on the malleable nature of the concept of identity, with its significance lying not in rigid definition but rather in the contemplation of it. By crafting spaces that honor the past while embracing the future, weaving together elements of tradition, innovation, and local identity, the project seeks to create spaces that spark dialogue and evoke thoughtful consideration of the context