Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 transcript preferentially expressed from the maternal allele, and the paternally expressed XLas, A/B and antisense transcripts. PHP1b can be caused by loss of imprinting affecting GNAS A/B alone (associated with STX16 deletion), or the entire GNAS cluster (associated with deletions of NESP55 in a minority of cases). We performed targeted genomic next-generation sequencing (NGS) of the GNAS cluster to seek variants and indels underlying PHP1b. Seven patients were sequenced by hybridisation-based capture and fourteen more by long-range PCR and transposon-mediated insertion and sequencing. A bioinformatic pipeline was developed for variant and indel detection. In one family with two affected siblings, and in a second family with a single affected individual, we detected maternally inherited deletions of 40 and 33 bp, respectively, within the deletion previously reported in rare families with PHP1b. All three affected individuals presented with atypically severe PHP1b; interestingly, the unaffected mother in one family had the detected deletion on her maternally inherited allele. Targeted NGS can reveal sequence changes undetectable by current diagnostic methods. Identification of genetic mutations underlying epigenetic changes can facilitate accurate diagnosis and counselling, and potentially highlight genetic elements critical for normal imprint settin

IMPLEMENTASI PENGAMANAN SELAT SUNDA DALAM RANGKA PENGENDALIAN ALUR LAUT KEPULAUAN INDONESIA I

Indonesia sebagai negara kepulauan sangat istimewa dan memiliki nilai strategis di sektor perairan, Selat Sunda sebagai salah satu jalur pelayaran yang terletak di jalur pelayaran Alur Laut Kepulauan Indonesia I (ALKI I) dan merupakan   salah  satu  pintu  gerbang  lalu lintas pelayaran  Internasional sehingga Selat Sunda merupakan bagian dari jalur utama perdagangan internasional. Perairan Selat Sunda memiliki peran sangat penting bagi pelayaran internasional. Selat Sunda merupakan lalu lintas pelayaran cukup padat membuat wilayah tersebut rentan terhadap berbagai bentuk ancaman. Sebagai konsekuensinya, Indonesia harus memberikan jaminan keamanan dan keselamatan jalur pelayaran. Tujuan Penelitian ini untuk menganalisis pelaksanaan pengamanan di wilayah perairan Selat Sunda dalam rangka pengendalian ALKI I. Metode yang digunakan dalam penelitian ini adalah Metode Kualitatif deskriptif sedangkan untuk pengumpulan data melalui observasi, wawancara dan studi dokumentasi. Hasil penelitian masing-masing instansi  berpedoman pada peraturan intern, Sarana prasarana terbatas, terjadi tumpang tindih kewenangan karena pola operasi sektoral, Komunikasi masih non formal, Sikap para pelaksana berpegang teguh regulasi masing-masing, Dukungan masyarakat terhadap keamanan Selat Sunda masih rendah, sehingga  pelaksanaan pengamanan Selat Sunda belum optimal.Kata kunci : Instansi Maritim, Implementasi, Pengamanan Selat Sunda, Strategi,  pengendalian ALKI

PERAN PAMONG BELAJAR DALAM MENINGKATKAN MOTIVASI BELAJAR WARGA BELAJAR PROGRAM PAKET C DI SKB NEGERI KOTA SURABAYA

Tujuan penelitian untuk mengkaji peran pamong belajar dalam meningkatkan motivasi belajar warga belajar dan hambatan yang dialami oleh pamong belajar dalam meningkatkan motivasi belajar warga belajar. Pendekatan kualitatif. Subjek penelitian warga belajar kelas X, XI dan XII yang berjumlah 51 orang dan 10 orang pamong belajar. Informan kunci adalah pamong sebagai tutor paket C yang memahami tentang pembelajaran. Sumber data primer yang digunakan pada penelitian ini adalah hasil dari wawancara terkait peran pamong belajar dalam kegiatan pembelajaran, pengembangan model, melakukan penilaian, meningkatkan motivais belajar dan kendala. Observasi dan dokumentasi hasil belajar warga belajar yang mengikuti pembelajaran. Analisis data yang digunakan adalah model interaktif Miles and Huberman. Hasil penelitian menunjukkan bahwa 1) Peran pamong belajar dalam kegiatan pembelajaran organisator dengan merumuskan RPP, kurikulum dan program semester, sebagai motivator, dilakukan dalam upaya mengembangkan motivasi belajar warga belajar dengan cara bertanya dan memenuhi tugas, sebagai fasilitator, pamong belajar memberikan fasilitas dan kemudahan serta memperluas pengetahuan dengan mewariskan pengetahuan kepada warga belajar. Melalui pembelajaran, sebagai evaluator, pamong belajar selalu mengevaluasi warga belajar dengan menilai kinerja dalam perilaku akademik dan sosial. Sudah dilakukan dengan baik, tapi masih belum maksimal 2) Hambatan pamong belajar dalam meningkatkan motivasi belajar warga belajar dan kurangnya keaktifan warga belajar, kurangnya kerjasama antara orangtua dengan pamong belajar dan mengembangkan semangat warga belajar

Aligning daily activities with personality: towards a recommender system for improving wellbeing

Recommender Systems have not been explored to a great extentfor improving health and subjective wellbeing. Recent advances inmobile technologies and user modelling present the opportunityfor delivering such systems, however the key issue is understand-ing the drivers of subjective wellbeing at an individual level. Inthis paper we propose a novel approach for deriving personalizedactivity recommendations to improve subjective wellbeing by maxi-mizing the congruence between activities and personality traits. Toevaluate the model, we leveraged a rich dataset collected in a smart-phone study, which contains three weeks of daily activity probes,the Big-Five personality questionnaire and subjective wellbeingsurveys. We show that the model correctly infers a range of activ-ities that are ’good’ or ’bad’ (i.e. that are positively or negativelyrelated to subjective wellbeing) for a given user and that the derivedrecommendations greatly match outcomes in the real-world

Time-Loop Formalism for Irreversible Quantum Problems: Steady State Transport in Junctions with Asymmetric Dynamics

Non-unitary quantum mechanics has been used in the past to study irreversibility, dissipation and decay in a variety of physical systems. In this letter, we propose a general scheme to deal with systems governed by non-Hermitian Hamiltonians. We argue that the Schwinger-Keldysh formalism gives a natural description for those problems. To elucidate the method, we study a simple model inspired by mesoscopic physics --an asymmetric junction. The system is governed by a non-Hermitian Hamiltonian which captures essential aspects of irreversibility.Comment: 4 pages, 4 figure

Tinjauan Komponen dan Elemen Interior pada Restoran (Studi Kasus : Dinding Masif Solaria PVJ & BEC Bandung)

In general, the interior of a restaurant has a theme. The theme in the interior is supported by a variety of factors. In addition to interior design in accordance with the demands of its functions and activities, use of materials and interior elements of the right to form and reinforce these themes. selection of materials or material as constituent elements of the current space is very diverse, from the floor, wall to ceiling. For example Solaria restaurant that is now very much a presence in major cities in western Java. The restaurant is characterized by bright purple. This restaurant is one of the fast food restaurants, but unlike other fast food restaurants that have a standard design that is very visible some Solaria has a typical restaurant in the interior design Key word ; restaurant, elements, interior,solaria, material

Uji Organoleptis, PH, Uji Eber dan Cemaran Bakteri pada Karkas yang Diisolasi dari Kios di Banyuwangi

Food borne disease merupakan isu bagi dunia kesehatan karena masih belum bisa dikendalikan secara tuntas. Daging merupakan salah satu agen tempat berkembangnya mikroba infeksius, cemaran kimia dan fisik yang memungkinkan timbulnya food poisoning. Penanganan masalah food borne disease melalui penatalaksanaan penyediaan pemotongan melalui Rumah Potong Hewan (RPH) menjadi salah satu kunci untuk mengendalikan bahan pangan. Kualitas daging menjadi prioritas penting dalam menjamin mutu pangan. Penelitian menggunakan kajian cross sectional study dengan metode sampling purposive. Pengujian sampel di wilayah Kecamatan Banyuwangi, Genteng dan Kalibaru menjadi subjek utama dimana terdapat kios daging yang mensuplai kebutuhan konsumen sehingga akan diketahui kualitas daging yang dipotong melalui RPH. Penelitian ini menunjukkan hasil uji organoleptis warna 37% kelainan, bau normal, tekstur konsistensi keras 0,05%, uji pH 50% diatas ambang normal, uji Eber 45% positif mengalami awal kebusukan. Semua sampel daging negative Salmonella spp dan 50% melebihi ambang batas Standart Nasional Indonesia cemaran Escherichia coli

Cost Estimation of Structural Work for Residential Building with Seismic Design Consideration

The Sumatra-Andaman earthquakes had triggered local earthquakes in Malaysia by reactivation of ancient inactive faults. Previously on 5th June 2015, Ranau, a region located in Sabah, Malaysia, had experienced a moderate earthquake of Mw6.1. The structural failures occurred because all existing buildings only designed for gravity load without any seismic provision. Recent research work exhibits the seismic designs’ impact on the cost of material and its parameters that impact the cost. There are two types reinforced concrete residential buildings called Type 1 and Type 2 for two storey and four storey which had been used as models. This research applied four seismicity levels to the reference peak ground acceleration value, αgR = 0.07g, 0.10g, 0.13g & 0.16g, and two soil types: Soil Types B and D. The result shows that for two storey reinforced concrete residential buildings on soil types B and D, seismic design increases structural work costs, which is around 0.62% to 1.31% and 0.61% to 2.16%, respectively, for Type 1 model compared to non-seismic design. Besides, model Type 2, the increment is around 0.24% to 1.22% and 0.20% to 1.71%, respectively. Otherwise, for reinforced concrete residential building with four storey on soil types B and D, the result shows that seismic design tends to have a higher structural work’s cost around 0.41% to 2.48% and 0.98% to 11.23%, respectively, for Type 1 model. Besides, for model Type 2 the increment is around 1.80% to 2.05% and 2.34% to 8.53%, respectively, compared to nonseismic design