Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan. An ophthalmic examination consisting of a fundus evaluation and electroretinography (ERG) was completed, and small aliquots of blood were collected from all participating individuals. Genomic DNA was extracted from white blood cells, and a genome-wide linkage or a locus-specific exclusion analysis was completed with polymorphic short tandem repeats (STRs). Two-point logarithm of odds (LOD) scores were calculated, and all coding exons and exon-intron boundaries of RP1 were sequenced to identify the causal mutation.ResultsThe ophthalmic examination showed that affected individuals in all families manifest cardinal symptoms of RP. Genome-wide scans localized the disease phenotype to chromosome 8q, a region harboring RP1, a gene previously implicated in the pathogenesis of RP. Sanger sequencing identified a homozygous single base deletion in exon 4: c.3697delT (p.S1233Pfs22*), a single base substitution in intron 3: c.787+1G>A (p.I263Nfs8*), a 2 bp duplication in exon 2: c.551_552dupTA (p.Q185Yfs4*) and an 11,117 bp deletion that removes all three coding exons of RP1. These variations segregated with the disease phenotype within the respective families and were not present in ethnically matched control samples.ConclusionsThese results strongly suggest that these mutations in RP1 are responsible for the retinal phenotype in affected individuals of all four consanguineous families

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

PurposeTo identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases.MethodsSeven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon-intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleotide polymorphism (SNP) haplotype for the four familial cases harboring the K489R allele and estimated the likelihood of a founder effect.ResultsThe ophthalmic examinations of the affected individuals in these familial cases were suggestive of RP. Exclusion analyses confirmed linkage to chromosome 6p harboring TULP1 with positive two-point LOD scores. Subsequent Sanger sequencing identified the single base pair substitution in exon14, c.1466A>G (p.K489R), in four families. Additionally, we identified a two-base deletion in exon 4, c.286_287delGA (p.E96Gfs77*); a homozygous splice site variant in intron 14, c.1495+4A>C; and a novel missense variation in exon 15, c.1561C>T (p.P521S). All mutations segregated with the disease phenotype in the respective families and were absent in ethnically matched control chromosomes. Haplotype analysis suggested (p<10(-6)) that affected individuals inherited the causal mutation from a common ancestor.ConclusionsPathogenic mutations in TULP1 are responsible for the RP phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families

Mapeamento das fundações na cidade do Natal - RN

The present work aims at mapping the foundations in the municipality of Natal. Therefore, it was required a data collection with builders and professionals of construction engineering about foundations that were built in previous constructions. Then, this work provides an initial and preliminary reference to future solutions for foundations projects in the city. So, this work analyzes the information made available from each registered building, such as location and number of pavements, as well as characteristics of foundations like type, depth and workload. From the surveys, it was possible to distinguish the soil profiles found in the buildings, dividing them into layers according to their granulometry. With the information obtained was possible to generate two maps, the first one shows the soil profiles contained mostly on quartz sands that belongs to the group of Quartzipsamments and the second one displays the types of foundations. In which it is possible to observe the predominance of deep foundations, mainly piles of the type excavated with bentonite sludge as principal foundation solution. The depths of the foundations in the city of Natal reach up to 20 meters in length, with the peak of percentage between 10 meters and 15 meters and the capacity of loads between 200 kN and 2000 kN, with more than 50% of these above 1000 kN.O presente trabalho tem como objetivo realizar o mapeamento das fundações no município do Natal. Para isso, foram obtidas informações a respeito das fundações utilizadas em obras pretéritas junto às construtoras e profissionais ligados à área. Dessa maneira espera- -se que este trabalho sirva como referencial inicial e preliminar para definir futuras soluções de projeto de fundações na cidade. Neste trabalho foram analisadas informações disponibilizadas de cada empreendimento cadastrado, tais como: localização e quantidade de pavimentos, além das características das fundações como tipo, profundidade e carga de trabalho. A partir das sondagens foi possível caracterizar os perfis de solo encontrados nas edificações, dividindo-os em camadas em função da sua granulometria. Com as informações obtidas, foram gerados dois mapas, sendo que o primeiro mostra os perfis de solo contidos em sua maioria sobre areias quartzosas pertencentes ao grupo de Neossolos Quartzarênicos e o segundo exibe os tipos de fundação. Neste foi possível observar a predominância de fundações profundas, principalmente das estacas do tipo escavadas como principal solução de fundação. As profundidades das fundações na cidade de Natal atingem até 20 metros de comprimento, com o pico de porcentagem entre 10 metros e 15 metros e as capacidades de cargas situadas entre 200 kN e 2000 kN, com mais de 50% destas acima dos 1000 kN

DESKRIPSI ALAT TANGKAP IKAN DI KECAMATAN BONTOMANAI KABUPATEN KEPULAUAN SELAYAR

Alat tangkap ikan adalah peralatan yang digunakan nelayan untuk mendapatkan ikan dan hewan laut lainnya. Terdapat berbagai jenis alat tangkap ikan yang dioperasikan di perairan Kabupaten Kepulauan Selayar, namun pengetahuan mengenai jenis alat tangkap yang dioperasikan di masing-masing kecamatan belum diketahui secara pasti karena minimnya informasi yang ada. Penelitian  ini bertujuan untuk mengidentifikasi dan mendeskripsikan berbagai jenis alat tangkap yang ada di kecamatan bontomanai kabupaten kepulauan selayar. Spesifikasi data alat tangkap yang di analisis adalah ukuran utama alat tangkap seperti panjang, lebar, mesh size, jarak antar pelampung, jarak antar pemberat, bahan yang digunakan, serta ukuran dari bagian-bagian alat tangkap (untuk  yang menggunakan jaring),  sedangkan  pada alat  tangkap  lain  (tanpa jaring) adalah ukuran panjang, diameter, bahan yang digunakan dan ukuran bagian-bagian  dari alat  tangkap.  Pengklasifikasian  atau  penggolongan setiap jenis alat tangkap dilakukan berdasarkan spesifikasi teknis dan cara pengoperasian alat tangkap, maka setiap jenis alat tangkap disesuaikan dengan klasifikasi alat penangkapan ikan Balai Pengembangan Penangkapan Ikan Semarang, 2009 dan Keputusan Menteri No. 6 tahun 2010

Analisis pemanfaatan Pelabuhan Perikanan Dalam Pengelolaan Pelabuhan Cempae Pare-pare

Penelitian ini bertujuan untuk mengetahui tingkat pemanfaatan fasilitas pokok, fungsional dan penunjang dalam mengelola pelabuhan perikanan Cempae Pare-Pare. Penelitian ini dilakukan dengan metode observasi dan survei serta analisis data dilakukan secara deskriptif. Hasil penelitian menunjukkan bahwa fasilitas-fasilitas baik pokok, fungsional maupun penunjang tidak dapat dimanfaatkan secara baik dan optimal oleh nelayan seperti instalasi air bersih yang tidak berfungsi, tidak ada pasokan bahan bakar minyak solar, produksi es balok yang belum mampu memenuhi kebutuhan nelayan, penanganan yang higienis dan kebersihan belum dilakukan dengan baik. Fungsi umum PPI Cempae belum dapat mernberikan pelayanan pada nelayan dan pengguna jasa yang melakukan aktivitas, fasilitas-fasilitas yang ada di PPI Cempae tidak sepenuhnya dimanfaatkan oleh nelayan dan pelaku usaha, ada beberapa fasilitas fungsional yang belum memberikan kepuasan terhadap pemanfaatannya. Keywords Fasilitas pokok; fungsional; penunjang; pemanfaatan; PPI Cemp

Effectiveness of influenza vaccine in aging and older adults: comprehensive analysis of the evidence

Foremost amongst the diseases preventable by vaccination is influenza. Worldwide, influenza virus infection is associated with serious adverse events leading to hospitalization, debilitating complications, and death in elderly individuals. Immunization is considered to be the cornerstone for preventing these adverse health outcomes, and vaccination programs are timed to optimize protection during the annual influenza season. Trivalent inactivated influenza virus vaccines are believed to be both effective and cost-saving; however, in spite of widespread influenza vaccination programs, rates of hospitalization for acute respiratory illness and cardiovascular diseases have been increasing in this population during recent annual influenza seasons. From meta-analyses summarizing estimates of influenza vaccine effectiveness from available observational clinical studies, this review aims to examine how effective current influenza vaccine strategies are in the aging and older adult population and to analyze which are the most important biases that interfere with measurements of influenza vaccine effectiveness. Furthermore, consideration is given to strategies that should be adopted in order to optimize influenza vaccine effectiveness in the face of immune exhaustion

PEMETAAN DAERAH PENANGKAPAN IKAN CAKALANG (Katsuwonus pelamis) DENGAN TEKNIS SISTEM INFORMASI GEOGRAFIS DI PERAIRAN KABUPATEN TOLITOLI PROVINSI SULAWESI TENGAH

Penelitian ini bertujuan untuk mengetahui hubungan antara tangkapan ikan cakalang (Katsuwonus pelamis) dengan parameter oseanografi (suhu permukaan laut, kedalaman, klorofil-a, kecepatan arus dan salinitas), memetakan daerah tangkapan ikan cakalang (Katsuwonus pelamis) dengan parameter oseanografi dan memprediksi daerah penangkapan potensial ikan cakalang di perairan Tolitoli menggunakan sistem informasi geografis secara teknis. Penelitian ini dilakukan pada bulan Maret hingga Juni 2018 di Kabupaten Tolitoli. Metode pengumpulan data adalah metode survei pole and line dan purse seine dengan mengumpulkan 50 lokasi titik tangkapan. Data yang dikumpulkan adalah posisi penangkapan, hasil tangkapan, dan data oseanografi lapangan. Analisis data menggunakan regresi linier berganda non parametrik (Cobb douglas). Prediksi potensi area penangkapan ikan cakalang menggunakan perangkat lunak ArcGis. Distribusi tuna cakalang di perairan Kabupaten Tolitoli dengan kisaran suhu permukaan laut 29,5-31,1 °C, kedalaman 14,20 - 5513 mdpl, konsentrasi klorofil-a 0,10 - 0,23 mg/m3, kecepatan arus 0,12 - 0,72 m/s dan salinitas 32,74 - 33,64 ppt. Parameter klorofil-a, kecepatan arus, salinitas memiliki hubungan nyata dengan tangkapan ikan cakalang. Prediksi potensial dan temporal dari area potensial percakapan cakalang selama masa studi di Kabupaten Tolitoli umumnya terletak di antara Selat Makassar dan Laut Sulawesi. Titik koordinat antara 0 ° 57'53,43 "LU hingga 2 ° 1'38.411" LU dan 119 ° 24'58.034 "BT hingga 121 ° 16'4.157" BT dengan total area ZPPI 16.461.75 km2. Kata Kunci: Ikan cakalang, daerah penangkapan, Klorofil-a, kecepatan arus, salinita