Littérature scientifique sur le sujet « DDMGD »

An eight-month-old, male, neutered, domestic short hair cat was presented for further investigation of white granuloma-like lesions on the tongue and recent onset regurgitation. The owner reported that the cat had an ‘unusual’ gait. Moderate increases in alanine aminotransferase, aspartate aminostransferase and markedly elevated creatine kinase were present. Thoracic radiographs revealed moderate-to-severe oesophageal impaction, cardiomegaly and an irregular appearance of the diaphragm. Endoscopy revealed a distended oesophagus with accumulation of ingesta. Difficulties were encountered when passing the endoscope through the cardia. Histology of the white granuloma-like lesions were pathognomonic of calcinosis circumscripta. These features raised the suspicion of feline muscular dystrophy. Muscle biopsies and electromyography were declined, and the patient was euthanased. Postmortem examination, histopathology and immunohistochemistry were suggestive of dystrophin-deficient muscular dystrophy (DDMD). This case emphasises the importance of including DDMD as a differential diagnosis for regurgitation and lingual calcinosis circumscripta in cats.

(1) Feline dystrophin-deficient muscular dystrophy (ddMD) is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles and is caused by variants in the DMD gene. To date, only two feline causal variants have been identified. This study reports two cases of male Maine coon siblings that presented with muscular hypertrophy, growth retardation, weight loss, and vomiting. (2) Both cats were clinically examined and histopathology and immunofluorescent staining of the affected muscle was performed. DMD mRNA was sequenced to identify putative causal variants. (3) Both cats showed a significant increase in serum creatine kinase activity. Electromyography and histopathological examination of the muscle samples revealed abnormalities consistent with a dystrophic phenotype. Immunohistochemical testing revealed the absence of dystrophin, confirming the diagnosis of dystrophin-deficient muscular dystrophy. mRNA sequencing revealed a nonsense variant in exon 11 of the feline DMD gene, NC_058386.1 (XM_045050794.1): c.1180C>T (p.(Arg394*)), which results in the loss of the majority of the dystrophin protein. Perfect X-linked segregation of the variant was established in the pedigree. (4) ddMD was described for the first time in the Maine coon and the c.1180C>T variant was confirmed as the causal variant.

Others have shown that H2DIDS reversibly and covalently binds to the first lysine (K) in the SKLIK motif at the extracellular end of transmembrane segment 5 of the Cl-HCO3 exchanger AE1. Here we mutated K558, K559, and/or K562 in the homologous KKMIK motif of human NBCe1-A. We expressed constructs in Xenopus oocytes, and used a two-electrode voltage clamp to test the sensitivity of the NBC current (−160 to +20 mV) to DIDS. A 30-s DIDS exposure decreased the current at 0 mV, and a subsequent albumin wash returned the current to the initial value (less any irreversible DIDS inhibition), permitting the determination of a complete dose-response curve on a single oocyte. For all constructs, the reversible DIDS inhibition of the NBC current decreased at more negative voltages. The apparent inhibitory constant for reversible DIDS binding increased in the sequence RRMIR < KKMIK ( wt, ∼40 μM) < NKMIK ≅ NKMIN ≅ KKMIN < KNMIN ≅ KNMIK < NNMIK < NNMIN (∼400 μM) < DDMID < EEMIE (∼800 μM). Thus the second K is the most important for reversible DIDS blockade. Nevertheless, these mutations had relatively little effect on slope conductance in the absence of DIDS. For KKMIK, RRMIR, NKMIK, KKMIN, KNMIK, and NNMIN, the rates of irreversible inhibition by DIDS roughly parallel the apparent affinities for reversible DIDS binding. The rate was extremely low for DDMID. The fitted maximal inhibitions were 80–91% for the first five constructs, and 66% for NNMIN. Thus DIDS probably reversibly binds before irreversibly reacting with NBCe1-A. Finally, tenidap blocks not only KKMIK, but also NNMIN and EEMIE.

This report describes a case of feline dystrophin-deficient muscular dystrophy (DDMD) with an atypical clinical presentation. A novel gene mutation is reported to be responsible for dystrophin-deficient hypertrophic muscular dystrophy. In an emergency setting, clinicians should be aware of muscular dystrophy in young cats and the importance of elevated creatine kinase (CK) activity. Muscular dystrophy is rare but can present both a diagnostic and therapeutic challenge in an emergency setting. Patients with muscular dystrophy have a progressive disease with no specific treatment and have an increased risk for death during their hospital stay.

Precise phase difference measurement is critical for distributed time synchronization systems. Aiming at the problem of how to realize the sub-nanosecond phase difference measurement of the time signal, the digital dual mixer time difference (DDMTD) measurement technology is used to measure the fine transmission delay and the two digital clock phase difference. Given the problem that it is difficult to generate a common clock source with fine frequency changes inside the FPGA chip, the Si5338 chip is used to generate 4 differential clocks, and the communication with the FPGA is completed through the I2C protocol, and the differential signal is converted into a single-ended clock source inside the FPGA as two The common standard frequency of clock signals with the same frequency and different phases, realize the amplification of the phase difference measurement range, making the measurement accuracy reach sub-nanosecond level.

The influence of temperature (125 or 145 °C) and duration (10, 20 or 30 min) of heating, or chemical treatment (acetic (AA) or formic (FA) acid) on in vitro insoluble DM (IDM) and insoluble CP (ICP) and 12 h in situ ruminal disappearance of canola meal was examined. Ruminal disappearances of dry matter (DDM) and crude protein (CPD) were expressed as apparent (ADMD and ACPD), insoluble (IDMD and ICPD) and degradable (DDMD and DCPD). Insoluble DM content was reduced by AA and FA (P < 0.01), while ICP was reduced by FA (P < 0.01). Acid treatment had no effect on in situ DMD or CPD. Heating increased IDM and ICP (P < 0.01). Duration of heating increased ICP at 145 °C (P < 0.01). Apparent DMD was influenced by temperature (P < 0.01) but not duration of heating. Mean ADMD and ACPD for control, 125 and 145 °C were 57.8, 59.6; 36.8, 24.1; and 27.4%, 13.7%, respectively, (P < 0.01). Insoluble and degradable DMD and CPD were reduced by heating (P < 0.01) but the influence of temperature or duration of heating was not consistent. The results indicate that heating at 125 or 145 °C for 10 min or more will reduce in situ DM and CP disappearance of canola meal, and increase the post-ruminal supply of DM and CP. Key words: Canola meal, in vitro solubility, in situ digestibility, heat and acid treatment

ABSTRACTIn today's electronic industry, manufacturers are continuously improving capital utilization, developing flexible manufacturing processes, reduce changeover time and improving yield and throughput. Interest in rapid prototyping and 3-D fabrication capabilities are rapidly increasing, and a number of candidate direct writing technologies are in development to meet these demands.This work studies material systems used by data driven materials deposition (DDMD) technologies for potential low temperature reel-to-reel high volume manufacturing on low cost substrates. Characterization results of fabricated discrete and RF devices using commercially available micro dispensing and ink jet systems will be discussed. Material rheological properties, deposition process characterization, deposition repeatability, fabricated device reliability and electrical performance will be presented. The test vehicles contain resistors and capacitors, transmission lines, open and short series stub filters, and half-wavelength resonators. The material/substrate compatibility will be demonstrated through environmental conditioning of the test vehicles. In addition, a cost estimate for using micro dispensing technologies was conducted to compare current manufacturing technologies to DDMD.

Kirchhoff Time Migration method was applied in pre-and post-Stack Time Migration for post-processing of images collected from Balad-Samarra (BS-92) survey line that is sited across Ajeel anticline oilfield. The results showed that Ajeel anticline structure was relocated at the correct position in the migrated stacked section. The two methods (Pre and Post) of migration processing showed enhanced subsurface images and increased horizontal resolution, which was clear after the broadening the syncline and narrowing or compressing the anticline. However, each of these methods was associated with migration noise. Thus, a Post-Stack process was applied using Dip-Removal (DDMED) and Band-Pass filters to eliminate the artifact noise. The time-frequency and signal to noise spectrum analyses as well as the ISO-velocity distribution analysis confirmed that the Pre-Stack Time Migration method outperformed the Post-Stack method as a result of structural complexity.

A crime scene is a vital part of an investigation. There are however, depending on the situation and crime, issues connected to physically being at the scene; risk of contamination, destruction of evidence or other issues can hinder the criminal investigators to stay, visit or revisit the scene. It is therefore important to visually capture the crime scene and any possible evidence in order to aid the investigation. This thesis aims to, with an initial research question, map out the main visual documentation needs, wishes and challenges that criminal investigators face during an investigation. In addition, with a second research question, it aims to address these in a Virtual Reality (VR) design and, with a third research question, explore however other professions in the investigation process could benefit from it. This was conducted through a literature review, interviews, workshops and iterations with the approach of the Double Diamond Model of Design. The results from the interviews were thematically analyzed and ultimately summarized into five key themes. These, together with various design criteria and principals, acted as design guidelines when creating a high fidelity VR design. The first two research questions were presented through the key themes and the VR design. The results of the third research question indicated that, besides criminal investigators, both prosecutors and criminal scene investigators may benefit from a VR design, although in different ways. A VR design can, in conclusion, address the needs, wishes and challenges of criminal investigators by being developed as a compiled visualization and collaboration tool.
En brottsplats är en vital del av en brottsundersökning. Det finns emellertid, beroende på situation och brott, problem som är kopplade till att fysiskt befinna sig på brottsplatsen. Risk för kontamination, förstörelse av bevis eller andra problem kan hindra brottsutredarna att stanna, besöka eller återvända till brottsplatsen. Det är därför viktigt att visuellt dokumentara brottsplatsen och eventuella bevis för att bistå utredningen. Detta masterarbete ämnar att, med en första forskningsfråga, kartlägga de viktigaste behoven, önskemålen och utmaningarna gällande visuell dokumentation, som brottsutredare möter under en utredning. Vidare ämnar projektet att, med en andra forskningsfråga, möta dessa i en Virtuell Verklighet (VR) -design och, med en tredje forskningsfråga, undersöka hur andra yrkesgrupper i en utredningsprocess skulle kunna dra nytta av den. Detta genomfördes genom en litteraturstudie, intervjuer, workshops och iterationer grundat i tillvägagångssättet Double Diamond Model of Design. Resultaten från intervjuerna analyserades tematiskt och sammanfattades i fem huvudteman. Dessa teman, tillsammans med olika designkriterier och principer, agerade designriktlinjer vid skapandet av en high-fidelity VR-design. De två första frågorna presenterades genom nyckeltemana och VR-designen. Resultaten gällande den tredje forskningsfrågan visar att, utöver brottsutredare, både åklagare och kriminaltekniker kan dra nytta av en VR-design, även om på olika vis. Sammanfattningsvis kan en VRdesign möta utredarnas behov, önskemål och utmaningar gällande visuell dokumentation genom att utvecklas som ett kompilerat visualiserings- och samarbetsverktyg.

DNA methylation can be elucidated as the reversible addition of methyl (CH3) group to C5 position of cytosine to form 5-methylcytosine that symbolizes an important regulatory layer associated with gene expression and regulation. It needs to be precisely regulated as any alteration in DNA methylation pattern may lead to various diseases. Recent studies have provided evidence of relation between DNA methylation and cardiovascular disease. Thus to facilitate improved diagnosis and better treatment decisions, the objective of this study is to create an efficient, effective and accurate systems to enable the extraction of the detailed information related to methylation of genes involved in cardiovascular disease development by contributing resources from various databases namely Coronary Artery Disease Gene Database (CADgene), DisGeNET, Comparative Toxicogenomics Database (CTD), DiseaseMeth, Dragon Database for Methylated Genes and Diseases (DDMGD), Database of CpG islands and Analytical Tool (DBCAT) etc. and various published literatures.