Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes.

Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes associated with CKD, may be associated with adverse progression in FH. Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as "Mild" (controls) or "Severe" (cases), based on renal manifestations. E1 and S1 MYH9 haplotypes and variant rs11089788 were analyzed for association with disease phenotype. Evidence for association with "Severe" progression in CFHR5 nephropathy was found with MYH9 variant rs11089788 and was confirmed in an independent FH cohort, D (cumulative p value = 0.001, odds ratio = 3.06, recessive model). No association was found with APOL1 gene. Quantitative Real time PCR did not reveal any functional significance for the rs11089788 risk allele. Our results derive additional evidence supporting previous reports according to which MYH9 is an important gene per se, predisposing to CKD, suggesting its usefulness as a prognostic marker for young hematuric patients

Rancang Bangun Cluster Pc Berbasis Linux untuk Komputasi Paralel Masalah Fisika

Disajikan rancang bangun komputer paralel dari cluster sejumlah PC low-end. Cluster terdiri dari sekelompok interkoneksi workstation atau PC stand-alone. Paket software PVM (Parallel Virtual Machine) menggabungkan sekelompok komputer dengan bermacam arsitektur dan jaringan, sehingga membentuk sebuah mesin paralel semu yang dapat diperlakukan seperti sebuah mesin tunggal berkinerja tinggi. Pemrosesan paralel dengan cluster PC akan mempersingkat waktu komputasi atau simulasi sistem dengan banyak variabel dan timestep, yang melibatkan operasi aljabar linear pada matriks berukuran sangat banyak. Kinerja komunikasinya ditunjukkan oleh hasil pengukuran bandwidth dan latensi. Kinerja komputasinya ditunjukkan melalui implementasi PVM pada operasi floating point, serta penyelesaian masalah fisika yang dalam hal ini ditunjukkan melalui penyelesaian persoalan distribusi panas dan potensial listrik. Cluster PC yang dibangun mampu memanfaatkan banwidth sampai 80% dari banwidth yang disediakan jaringan. Berdasarkan implementasi komputasi paralel pada sistem, cluster yang terdiri dari empat buah PC memiliki kinerja komunikasi dan komputasi cukup baik

Analisis terhadap Data Klimatologi untuk Menentukan Jenis Iklim Kota Palembang Menggunakan Metode Thornthwaite

Telah dilakukan penelitian untuk menentukan jenis iklim kota Palembang menggunakan metode thornthwaite. Meode ini memerlukan data klimatologi berupa data temperatur dan endapan hujan (presipitasi). Data yang digunakan pada penelitian ini adalah data temperatur rata-rata bulanan dan data presipitasi rata-rata bulanan kota Palembang selama periode tahun 1972-2002. Pada prinsipnya metode ini menganalisis hubungan antara presipitasi, penguapan dan temperatur di suatu daerah sehingga didapatkan jenis iklim di daerah tersebut. Hasil penelitian ini menunjukkan bahwa iklim kota Palembang termasuk region kelembaban basah dan region termal tropikal

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%). Eight non-related families featured the founder mutation COL4A3-p.(G1334E). Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS). Ten patients (11.5%) reached end-stage kidney disease (ESKD) at ages ranging from 37-69-yo (mean 50,1-yo). Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR) cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies