Rothmund-Thomson syndrome (RTS)

Review on Rothmund-Thomson syndrome (RTS), with data on clinics, and the genes involved

Familial gastrointestinal stromal tumors (GISTs)

Review on Familial gastrointestinal stromal tumors (GISTs), with data on clinics, and the genes involved

KITLG (KIT ligand)

Review on KITLG (KIT ligand), with data on DNA, on the protein encoded, and where the gene is implicated

Endocrine/neuroendocrine glands: Pituitary adenomas

Review on Endocrine/neuroendocrine glands: Pituitary adenomas, with data on clinics, and the genes involved

PERLINDUNGAN KONSUMEN TERHADAP MAKANAN JAJANAN YANG MENGANDUNG FORMALIN DAN BORAKS(SUATU PENELITIAN DI KOTA BANDA ACEH)

ABSTRAKNANDA MAULINA SAFIRA,PERLINDUNGAN KONSUMEN TERHADAP 2014MAKANAN JAJANAN YANG MENGANDUNG FORMALIN DAN BORAKS (Studi Penelitian di Kota Banda Aceh)Fakultas Hukum Universitas Syiah Kuala(iv, 63) pp., tabl., bibl., appdx.( RISMAWATI, S.H., M.Hum. )Dalam Pasal 4 huruf a Undang-Undang Perlindungan Konsumen dijelaskan bahwa konsumen memiliki hak atas keselamatan dalam mengkonsumsi barang. Dalam Pasal 67 Undang-Undang Nomor 18 Tahun 2012 tentang Pangan dijelaskan bahwa ketentuan keamanan pangan diselenggarakan untuk menjaga pangan tetap aman dikonsumsi, sehingga terhindar dari kemungkinan cemaran biologis atau kimia yang dapat membahayakan kesehatan manusia. Dalam Peraturan Menteri Kesehatan Nomor 33 Tahun 2012 tentang Bahan Tambahan Pangan disebutkan bahwa bahan yang dilarang digunakan sebagai bahan tambahan pangan diantaranya adalah formalin dan boraks. Pada kenyataannya, di Kota Banda Aceh terdapat masalah dalam mewujudkan perlindungan konsumen terhadap makanan jajanan yang mengandung formalin dan boraks.Penulisan skripsi ini bertujuan untuk menjelaskan perlindungan konsumen terhadap makanan jajanan yang mengandung formalin dan boraks, faktor penyebab tidak berjalannya perlindungan konsumen terhadap makanan jajanan yang mengandung formalin dan boraks, dan upaya mengatasi hambatan perwujudan perlindungan konsumen terhadap makanan jajanan yang mengandung formalin dan boraks.Data yang diperlukan dalam tulisan ini adalah data sekunder dan data primer. Data sekunder diperoleh melalui penelitian kepustakaan dilakukan dengan cara membaca peraturan perundang-undangan, buku-buku, surat kabar dan bahan-bahan lain yang berkaitan dengan penelitian ini, dan data primer diperoleh dengan cara mewancarai responden dan informan.Hasil penelitian menunjukkan bahwa perlindungan konsumen terhadap makanan jajanan yang mengandung formalin dan boraks di Kota Banda Aceh, belum berjalan sebagaimana yang telah diatur dalam Undang-Undang Nomor 18 Tahun 2012 dan Peraturan Menteri Kesehatan Nomor 33 Tahun 2012. Faktor penyebab tidak berjalannya perlindungan konsumen terhadap makanan jajanan yang mengandung formalin dan boraks yaitu kurangnya sosialisasi peraturan perundang-undangan, kurangnya pengawasan, kurangnya ketegasan dalam penerapan sanksi dan kurangnya laporan dari pihak masyarakat.Upaya mengatasi hambatan perwujudan perlindungan konsumen terhadap makanan jajanan yang mengandung formalin dan boraks yaitu penyuluhan hukum, pengawasan, peringatan dan pembinaan.Disarankan kepada instansi pemerintahan seperti Dinas Kesehatan dan BBPOM untuk menambah jumlah petugas serta mengalokasikan dana dalam melakukan pemeriksaan dan pengujian makanan jajanan sehingga terselenggaranya perlindungan konsumen terhadap makanan jajanan yang mengandung formalin dan boraks.Banda Ace

Piebaldism

Review on Piebaldism, with data on clinics, and the genes involved

KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog)

Review on KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), with data on DNA, on the protein encoded, and where the gene is implicated

The cooling of atomic and molecular gas in DR21

We present an overview of a high-mass star formation region through the major (sub-)mm, and far-infrared cooling lines to gain insight into the physical conditions and the energy budget of the molecular cloud. We used the KOSMA 3m telescope to map the core ($10'\times 14'$) of the Galactic star forming region DR 21/DR 21 (OH) in the Cygnus X region in the two fine structure lines of atomic carbon CI and four mid-$J$ transitions of CO and $^{13}$CO, and CS J=7\TO6. These observations have been combined with FCRAO J=1\TO0 observations of $^{13}$CO and C$^{18}$O. Five positions, including DR21, DR21 (OH), and DR21 FIR1, were observed with the ISO/LWS grating spectrometer in the \OI 63 and 145 $\mu$m lines, the \CII 158 $\mu$m line, and four high-$J$ CO lines. We discuss the intensities and line ratios at these positions and apply Local Thermal Equilibrium (LTE) and non-LTE analysis methods in order to derive physical parameters such as masses, densities and temperatures. The CO line emission has been modeled up to J=20. From non-LTE modeling of the low- to high-$J$ CO lines we identify two gas components, a cold one at temperatures of T_\RM{kin}\sim 30-40 K, and one with T_\RM{kin}\sim 80-150 K at a local clump density of about n(H$_2$)$\sim 10^4-10^6$ cm$^{-3}$. While the cold quiescent component is massive containing typically more than 94 % of the mass, the warm, dense, and turbulent gas is dominated by mid- and high-$J$ CO line emission and its large line widths. The medium must be clumpy with a volume-filling of a few percent. The CO lines are found to be important for the cooling of the cold molecular gas, e.g. at DR21 (OH). Near the outflow of the UV-heated source DR21, the gas cooling is dominated by line emission of atomic oxygen and of CO

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 23 (MRD23) syndrome, due to SETD5 gene mutations, falls into this group of disorders. KBG syndrome, caused by ANKRD11 gene haploinsufficiency, is a chromatin related syndrome not formally belonging to this category. We performed high resolution array CGH and trio-based WES on three molecularly unsolved patients with an initial KBGS clinical diagnosis. A de novo deletion of 116 kb partially involving SETD5 and two de novo frameshift variants in SETD5 were identified in the patients. The clinical re-evaluation of the patients was consistent with the molecular findings, though still compatible with KBGS due to overlapping phenotypic features of KBGS and MRD23. Careful detailed expert phenotyping ascertained some facial and physical features that were consistent with MRD23 rather than KBGS. Our results provide further examples that loss-of-function pathogenic variants in genes encoding factors shaping the epigenetic landscape, lead to a wide phenotypic range with significant clinical overlap. We recommend that clinicians consider SETD5 gene haploinsufficiency in the differential diagnosis of KBGS. Due to overlap of clinical features, careful and detailed phenotyping is important and a large gene panel approach is recommended in the diagnostic workup of patients with a clinical suspicion of KBGS