table_2_High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.PDF

<p>Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PID). T-cell receptor excision circle (TREC) copy number analysis is an efficient tool for population-based newborn screening (NBS) for SCID and other T cell lymphopenias. We sought to assess the incidence of SCID among Saudi newborn population and examine the feasibility of using targeted next generation sequencing PID gene panel (T-NGS PID) on DNA isolated from dried blood spots (DBSs) in routine NBS programs as a mutation screening tool for samples with low TREC count. Punches from 8,718 DBS collected on Guthrie cards were processed anonymously for the TREC assay. DNA was extracted from samples with confirmed low TREC count, then screened for 22q11.2 deletion syndrome by real-time polymerase chain reaction and for mutations in PID-related genes by T-NGS PID panel. Detected mutations were confirmed by Sanger sequencing. Sixteen out of the 8,718 samples were confirmed to have low TREC copy number. Autosomal recessive mutations in AK2, JAK3, and MTHFD1 were confirmed in three samples. Two additional samples were positive for the 22q11.2 deletion syndrome. In this study, we provide evidence for high incidence of SCID among Saudi population (1/2,906 live births) and demonstrate the feasibility of using T-NGS PID panel on DNA extracted from DBSs as a new reliable, rapid, and cost-effective mutation screening method for newborns with low TREC assay, which can be implemented as part of NBS programs for SCID.</p

table_1_High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.PDF

<p>Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PID). T-cell receptor excision circle (TREC) copy number analysis is an efficient tool for population-based newborn screening (NBS) for SCID and other T cell lymphopenias. We sought to assess the incidence of SCID among Saudi newborn population and examine the feasibility of using targeted next generation sequencing PID gene panel (T-NGS PID) on DNA isolated from dried blood spots (DBSs) in routine NBS programs as a mutation screening tool for samples with low TREC count. Punches from 8,718 DBS collected on Guthrie cards were processed anonymously for the TREC assay. DNA was extracted from samples with confirmed low TREC count, then screened for 22q11.2 deletion syndrome by real-time polymerase chain reaction and for mutations in PID-related genes by T-NGS PID panel. Detected mutations were confirmed by Sanger sequencing. Sixteen out of the 8,718 samples were confirmed to have low TREC copy number. Autosomal recessive mutations in AK2, JAK3, and MTHFD1 were confirmed in three samples. Two additional samples were positive for the 22q11.2 deletion syndrome. In this study, we provide evidence for high incidence of SCID among Saudi population (1/2,906 live births) and demonstrate the feasibility of using T-NGS PID panel on DNA extracted from DBSs as a new reliable, rapid, and cost-effective mutation screening method for newborns with low TREC assay, which can be implemented as part of NBS programs for SCID.</p

Additional file 4: of Identification of a novel genetic locus underlying tremor and dystonia

CAMTA2 expression in brain. (PDF 1628 kb

Additional file 2: of Identification of a novel genetic locus underlying tremor and dystonia

Variants in candidate interval. (PDF 217 kb

Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb

Additional file 2: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Genes included in the neurological panel. (DOC 97 kb

Additional file 4: of KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

IFT analysis in C. elegans K04F10.2( tm1830 ) mutants. a Intraflagellar transport rates in wild-type and K04F10.2(tm1830) mutant worms. Shown are the anterograde and retrograde velocities (μm.s-1/standard deviation (SD)) of GFP-tagged IFT proteins along amphid and phasmid channel cilia (combined; top rows), or phasmid cilia only (bottom rows). t-test pairwise comparison with wild-type controls, n number of particles, N measured number of amphids and phasmids. OSM-3 is the worm orthologue of KIF17; CHE-11 is the worm orthologue of IFT140; OSM-6 is the worm orthologue of IFT52. b Representative fluorescence images of phasmid cilia showing normal IFT protein localisations and distributions in tm1830 mutants. ds distal segment, ms middle segment, bb basal body region, den dendrite. All images are similarly scaled and orientated (arrow denotes basal body). Scale bar, 3 μm. c Representative kymographs (time (t) over distance (d) plots) used to generate IFT rate measurements. For each kymograph, the horizontal axis (distance) is 5 μm and the vertical axis (time) is 25 seconds. d Distribution plots of IFT protein velocities. (JPG 1951 kb

Tecnologie digitali per la valorizzazione del patrimonio culturale. La rappresentazione di beni non accessibili

Il contributo rientra nel filone delle sperimentazioni di comunicazione multimediale e di ricostruzione virtuale di architetture e frammenti urbani. Il lavoro presenta i risultati di alcune applicazioni digitali che adoperano il linguaggio multimediale per consentire la fruizione virtuale di siti per diverse ragioni non accessibili, per raccontare un percorso reale o concettuale. I casi studio analizzati si configurano quali possibili prodotti strategici di divulgazione e comunicazione per la conoscenza e la comprensione del patrimonio culturale e per la veicolazione di contenuti scientifici.The contribution is part of the study and experimentation of multimedia communication, virtual analysis and reconstruction of architectures and urban fragments. This paper shows the results of some digital applications that use multimedia language for virtual fruition and enhancement of some sites, which for several reasons, are not accessible, to tell a real or conceptual path. The cases analyzed are considered as possible strategic products of dissemination and communication for the knowledge and understanding of cultural heritage and for the transmission of scientific content

Additional file 5: Table S4. of Characterizing the morbid genome of ciliopathies

Identification of TXNDC15 interacting proteins using tandem affinity purification (TAP). The list of 224 unique proteins is significantly enriched in known or predicted ciliary proteins. (XLSX 30 kb

Additional file 2: Table S3. of Characterizing the morbid genome of ciliopathies

Clinical and genomic data for all cases in the study. (XLSX 83 kb