Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)

We describe a family with autosomal dominant inheritance of increased body iron stores characterized by raised serum ferritin concentration and normal transferrin saturation. Liver biopsy showed iron deposition in Kupffer cells without fibrosis. The clinical features of HFE-related hemochromatosis were absent, as were the Cys282Tyr and His63Asp mutations. Venesection therapy was poorly tolerated, suggesting a defect in iron release from reticuloendothelial stores. A 3-base pair deletion in exon 5 of the ferroportin 1 gene (SLC11A3) predicting Val162 deletion was found in affected members, but not in unaffected individuals or in 100 control subjects. Consensus structural predictions of the transmembrane helices showed that the deletion is in the extracellular loop between the third and fourth predicted transmembrane helices and lies within a spatial cluster of other known ferroportin 1 mutations. These results indicate that this extracellular cluster is functionally important for iron transport, and its disruption leads to iron overload

PERANCANGAN ENTERPRISE ARCHITECTURE PADA FUNGSI TEKNOLOGI INFORMASI BANK BPD BALI DENGAN MENGGUNAKAN PENDEKATAN TOGAF ADM

Bank BPD Bali merupakan Badan Usaha Milik Daerah (BUMD) Bali yang bergerak di bidang perbankan dan merupakan bank umum yang kepemilikan sahamnya sebagian besar dipegang oleh pemerintah provinsi Bali. Bank BPD Bali memiliki visi untuk menjadi bank yang kuat, berdaya saing tinggi, dan terkemuka dalam melayani UMKM serta berkontribusi bagi pertumbuhan perekonomian daerah. Berdasarkan visi tersebut, fungsi teknologi informasi berperan penting dalam mencapai visi Bank BPD Bali. Tujuan fungsi teknologi informasi Bank BPD Bali yaitu menyediakan dukungan teknologi informasi yang handal, efektif, dan efisien bagi kegiatan operasional bank dalam mencapai visi dan misi serta strategi Bank BPD Bali. Untuk dapat tercapainya tujuan fungsi teknologi informasi, diperlukan sistem informasi untuk menciptakan lingkungan teknologi informasi yang terintegrasi dan bersinergi. Penggunaan TI pada Bank BPD Bali masih kurang sesuai antara bisnis unit dengan TI sehingga terjadi investasi TI yang tidak sesuai dengan kebutuhan bisnis. Maka diperlukan perancangan enterprise architecture (EA). Enterprise architecture dipilih karena dapat mengendalikan kompleksitas perusahaan, proses serta sistemnya. Selain itu, EA dipilih karena strategi TI bukan hanya tentang teknologi tetapi juga menciptakan lingkungan terintegrasi yang memanfaatkan keterampilan manusia, proses bisnis, struktur organisasi, dan teknologi untuk mengubah posisi kompetitif bisnis. Untuk membuat perancangan enterprise architecture pada fungsi teknologi informasi, penelitian ini menggunakan TOGAF ADM sebagai framework, yaitu pada Preliminary Phase, Architecture Vision, Business Architecture, Information System Architecture, Technology Architecture, Opportunities and Solution, dan Migration Planning. Hasil dari penelitian ini yaitu memberikan gambaran berupa blueprint dan IT roadmap untuk perencanaan investasi TI agar sesuai dengan kebutuhan bisnis. Kata Kunci: Enterprise Architecture, TOGAF ADM, Bank, Teknologi Informas

NILAI-NILAI PENDIDIKAN PADA PERTUNJUKAN MONOLOG “OPUTA YI KOO” DI SMA NEGERI 1 BAUBAU

Penelitian ini adalah penelitian analisis konten yang bertujuan untuk mengetahui dan mendeskripsikan nilai-nilai pendidikan yang terdapat dalam pertunjukan monolog “Oputa Yi Koo” karya Chendy Ariswan Latief serta mendeskripsikan implementasi nilai-nilai pendidikan yang telah diketahui pada perangkat bentuk pertunjukan monolog tersebut. Pendekatan yang digunakan dalam penelitian ini adalah pendekatan deskriptif kualitatif. Subjek penelitian yakni siswa SMA Negeri 1 Baubau, sutradara, aktor/aktris, dan pelaku yang terlibat dalam proses latihan hingga pementasan. Teknik pengumpulan data dilakukan dengan observasi, wawancara dan dokumentasi, kemudian dianalisis secara deskriptif. Hasil penelitian ini menunjukan bahwa (1) Bentuk Pertunjukan Monolog “Oputa Yi Koo” di SMA Negeri 1 Baubau ditemukan melalui bentuk teks dramatic dan teks pertunjukan, yakni naskah lakon, tema, tokoh (karakter), dialog, keterangan (nebenteks), alur, latar, amanat synopsis, dan struktur dramatic dengan menggunakan teori dari Aristoteles dan Gustaf Freytag yang meliputi tahap awal, tahap pertengahan, dan tahap akhir. (2) Nilai Pendidikan pada Pertunjukan Monolog “Oputa Yi Koo” di SMA Negeri 1 Baubau ditemukannya nilai-nilai pendidikan yang dapat ditanamkan bagi siswa SMA Negeri 1 Baubau, diantaranya nilai pendidikan religius, nilai pendidikan sosial budaya, nilai pendidikan moral, nilai pendidikan estetika, dan nilai pendidikan literasi. Kata Kunci : Nilai-nilai pendidikan, pertunjukan monolog “Oputa Yi Koo”, deskriptif kualitatif

Current management of the axilla in patients with clinically node-negative breast cancer: a nationwide survey of United Kingdom breast surgeons

BACKGROUND: Precise knowledge of axillary lymph node status is essential in the treatment of operable carcinoma of the breast. For many years, axillary nodal clearance (ANC) has been an integral part of the conventional management of early-stage breast cancer. During the last few decades the trend of these surgical procedures has been one of decreasing invasiveness in order to try and achieve a much lower level of morbidity. To help reach this improved level of treatment the concept of the sentinel lymph node (SLN) was utilized. Recent studies have shown that SNB can provide an accurate assessment of the axillary nodal status in clinically node negative patients, negating the need to remove the majority of the axillary contents and thus reducing morbidity. A recent meta-analysis of all the literature to date appears to reveal that the dual technique (blue dye and technetium-labelled sulfur) is the gold-standard for successful identification of the SLN in the context of early-stage breast cancer. We aim to highlight the on-going wide range of differing methods employed, and compare this to the gold-standard recommended guidelines. METHODS: A questionnaire was devised to provide a snapshot overview of the current management of the axilla in patients with clinically node-negative T1 invasive breast cancer amongst UK beast surgeons in August 2006. RESULTS: Of the 271 UK surgeons, 74 (27.3%) performed ANC as the initial management of the axilla in patients with clinically node negative T1 invasive breast cancer, 56 (20.7%) used axillary node sampling (not directed by sentinel node mapping) and a total of 141 (52.0%) used the technique of SNB, of which 50 (18.5%) used blue dye alone and 91 (33.6%) used a combination of blue dye and radioisotope. CONCLUSION: Despite the obvious advantages, our survey has revealed that the procedure is only used by 52% of British breast surgeons in this subgroup of patients (clinically node negative, tumour equal of smaller than 2 cm) most of whom have no disease within the axilla. The reasons for this include limited hospital resources and lack of surgeons training and accreditation and ARSAC license (nuclear medicine license)

Perbedaan Regulasi Emosi dan Kecemasan Ibu Hamil Ditinjau dari Keikutsertaan Yoga Prenatal

Penelitian ini bertujuan untuk mengetahui pengaruh yoga prenatal terhadap perbedaan kecemasan dan regulasi emosi ibu hamil di masa pandemi COVID-19. Penelitian ini dilakukan pada ibu hamil dengan 74 subjek. Alat ukur yang digunakan adalah Emotion Regulation Questionnaire (ERQ) serta Perinatal Anxiety Screening Scale (PASS). Hasil penelitian ini menunjukkan bahwa terdapat pengaruh perbedaan yang signifikan antara kecemasan pada kedua kelompok ibu hamil (F(1, 71)=8,177; p=0,006). Disimpulkan, terdapat perbedaan tingkat kecemasan yang signifikan antara ibu hamil pada kelompok yoga prenatal dan non yoga prenatal. Sedangkan tidak terdapat pengaruh yang signifikan pada kedua kelompok ibu hamil (F(1, 71)=0,422; p=0,518). Disimpulkan bahwa dengan mengendalikan regulasi emosi tidak terdapat perbedaan kecemasan pada ibu hamil yang mengikuti maupun tidak mengikuti yoga prenatal

The contribution of daytime sleepiness to impaired quality of life in NAFLD in an ethnically diverse population

Health-related quality of life (HRQoL) is lower in people with NAFLD compared to the general population. Sleep disturbance resulting in daytime sleepiness is common in patients with NAFLD, but the effect of daytime sleepiness on HRQoL in NAFLD is unclear. The prevalence and natural history of NAFLD vary in different ethnic groups, but there has been limited ethnic diversity in HrQoL studies to date. We aimed to assess whether daytime sleepiness is independently associated with reduced HRQoL in an ethnically diverse UK population. We conducted HRQoL assessments using SF-36 version 2 and Epworth Sleepiness Scale (ESS) questionnaires in 192 people with NAFLD. Multivariate linear regression was used to identify factors independently affecting HRQoL scales. People with NAFLD reported significantly reduced physical health-related SF-36 scores compared to the general UK population. South Asian NAFLD patients reported impairment in physical health, but not mental health, approximately a decade before White NAFLD patients. In multivariate linear regression, daytime sleepiness (ESS score > 10), was the most significant independent predictor of reduced physical health. Age, BMI and liver stiffness score were also significantly associated. HRQoL is impaired earlier in patients of South Asian ethnicity. ESS score > 10, indicative of excessive daytime sleepiness, is an independent predictor of reduced HRQoL in people with NAFLD regardless of ethnicity. Daytime sleepiness should be considered as a contributing factor to reduced HRQoL in clinical practice and when evaluating patient-related outcomes in clinical trials.Grant from the Diabetes Wellness and Research Foundation (WA, WKS). WA was supported by a New Investigator Research Grant from the Medical Research Council

The competent sentinel node: an association with an axillary presentation and an occult or a small primary invasive breast carcinoma

The concept of the sentinel node describes a primary or sentinel lymph node (SLN), which exists and through which tumour cells from a primary tumour in a particular location must first travel to spread to a particular regional lymph node group. In this series we present three patients presenting with a pathological axillary node associated with either an occult or very small primary breast cancer. In each case the primary tumour was found to have metastasised to the palpable node, however despite the significant enlargement of this node, no other axillary nodes were found to be affected on axillary node clearance. This has led us to postulate that the SLN in some cases contains unique characteristics that enable it to prevent further spread of the tumour up the lymphatic chain. Hence the term the competent sentinel node