... field and a combination of Simplex [65] and Powell algorithms [66] Coordinates of the NMR structures of the BIR2 [49] and BIR3 [50] domains were achieved from the Protein Data Bank files: 1C9Q and ... (500 lg of total protein in 100 lL of buffer C) and activated by addition of lm cytochrome c and mm dATP for 30 at 30 °C in the presence of AFP (6 lg) The reaction mixtures were cooled and incubated ... of a high level of apoptotic activation and the upregulation of IAPs in tumor tissue [8,16] Inactivation of XIAP or the cancellation of XIAP inhibition appears both necessary and sufficient for...
Ngày tải lên: 07/03/2014, 12:20
... Task Force of the European Society of Cardiology the North American Society of Pacing Electrophysiology: Heart rate variability: standards of measurement, physiological interpretation and clinical ... FA: Assessment of cardiovascular autonomic function: agerelated normal ranges and reproducibility of spectral analysis, vector analysis, and standard tests of heart rate variation and blood pressure ... mean and time domain HRV parameters of the RR interval [18], including the standard deviation (SDNN), the proportion of successive intervals differing by more than 50 ms (pNN50) and the standard...
Ngày tải lên: 09/08/2014, 10:23
Báo cáo y học: " A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report" doc
... 35 years of age and full siblings (all males) who died of unknown causes between and years of age His deceased siblings had similar symptoms and discoloration of mucous membranes None of them ... follows: C22:0 of 20.02, C24:0 of 33.61, C26:0 of 1.2, C24 and C22 of 1.679, and C26/C22 of 0.06 Consequently, he was started on anti-seizure medications N-acetyl-L-cysteine, and was continued ... matter of several parts of his brain, which was suggestive of a diffuse and active demyelination process (Figures 4) He had elevated VLCFA levels, which was compatible with the diagnosis of X-ALD...
Ngày tải lên: 11/08/2014, 14:21
Báo cáo y học: "Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults" pot
... cases in the XLA registry of the Ministry of Health and Welfare, Japan This case clearly illustrates the utility of flow cytometric analysis for the diagnosis of XLA, and also raises questions ... carriers, on the contrary, undergo random inactivation of the normal and mutated X chromosomes, and thus the product of the BTK gene can be detected in B cells and other hematopoietic cells This ... presents a rare case of an adult-onset XLA patient, the diagnosis of which was indicated by the flow cytometric analysis of peripheral monocytes using antiBTK antibody [5] and was confirmed by...
Ngày tải lên: 12/08/2014, 18:20
Báo cáo y học: "X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature." pps
... age of diagnosis ϕ Age at diagnosis ψ Splice site mutation at the 3' end of intron 13: IVS 13 -1 G>A Page of (page number not for citation purposes) Clinical and Molecular Allergy 2008, 6:5 and ... manuscript, and configuration of tables and figures, EK assisted in data collection, design of tables, and literature review, GK sup- Table 4: Key characteristics of XLA and CVID XLA Age of onset ... produce lower levels of wild-type BTK transcripts [4] Differentiating XLA and CVID Knowledge of the key characteristics of XLA and CVID may assist in the differentiation of these two clinically similar...
Ngày tải lên: 13/08/2014, 13:22
Báo cáo y học: "Dosage compensation on the active X chromosome minimizes transcriptional noise of X-linked genes in mammals" pps
... intensities of perfect match (PM) and mismatch (MM) probes of microarrays, the percentage of X-linked genes expressed is about 4% of the total numbers of genes, consistent with the percentage of total ... using the same mean and standard deviation then considered the between-population CV as being the standard deviation between the Means of 100 populations/Mean of the means of the 100 populations ... is the coupling of noise and dosage necessarily a direct coupling as we presume and, if so, what are the broader implications of the pre-eminence of dosage in the determination of noise levels?...
Ngày tải lên: 14/08/2014, 21:20
Báo cáo y học: " Autonomic Dysfunction Presenting as Postural Orthostatic Tachycardia Syndrome in Patients with Multiple Sclerosis"
... Onset of POTS in relation to MS Two patients developed POTS prior to diagnosis of MS One of these patient developed POTS three years, and another, one and a half years before the onset of MS ... of standing or HUTT More complete descriptions of the diagnosis and management of POTS are given elsewhere (7-11) Multiple sclerosis (MS) is an autoimmune inflammatory demyelinating disease of ... previously the majority of our patients were females Both POTS and MS occur more commonly in women of childbearing age All of our patients were of Caucasian descent Symptoms of POTS and MS The most common...
Ngày tải lên: 26/10/2012, 09:39
Báo cáo khoa học: New insights into Fragile X syndrome Relating genotype to phenotype at the molecular level docx
... implicates lack of FMRP function as the primary cause of the syndrome In spite of its key importance, the effect of the I304N mutation on the structure and function of FMRP is still unclear, and there ... features of FMRP, FXR1P and FXR2P: KH, RGG, NLS and NES motifs Phylogenetic sequence analysis led to the suggestion that dFXRP is the ancestral progenitor of the vertebrate FMRP and FXR proteins, and ... tandem KH1-KH2 domains might be a minimal biologically relevant system for studies of the structural role of I307N mutation We cloned and expressed the KH1-KH2 and the KH1-KH2(I307N) domains of...
Ngày tải lên: 30/03/2014, 15:20
modeling fragile x syndrome
... Denman Origins and Necessity of Modeling “Be fruitful and multiply, fill the earth and subdue it and have dominion over it.” The human imperative found in the biblical account of creation, and so to ... behavioral, and functional studies of NPCs will improve our understanding of the NPC biology and delineate the limitations of NPCs with genetic mutations to model human diseases From a clinical ... atoms in terms of their three quantum numbers n, l, and m and begin to understand their Introduction: Reminiscing on Models and Modeling intrinsic properties Thus, by first simplifying and then by...
Ngày tải lên: 29/05/2014, 17:33
Báo cáo vật lý: "ATTENUATION STUDIES ON DRY AND HYDRATED CROSS-LINKED HYDROPHILIC COPOLYMER MATERIALS AT 8.02 TO 28.43 keV USING X-RAY FLUORESCENT SOURCES" ppt
... thickness of the samples, It is the intensity of the transmitted beam and I0 is the intensity of the incident beam The density of the samples was determined by weighing and measuring the volume of the ... elemental composition of ED1S and ED4C as compared to that of some tissues and other tissue-equivalent materials (ICRU 1989).10 ED1S and ED4C contain the major elements of real tissues Sample ... energies of Kα peaks of copper, molybdenum, silver and tin targets 2.5 Copolymer Attenuation Measurements Solid hydrophilic material samples of ED1S and ED4C were used Three states of the samples...
Ngày tải lên: 07/08/2014, 14:20
Báo cáo y học: "Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome" pot
... with diverse clinical symptoms both at onset and during the course of the disease Classification of this heterogeneous disease has been based primarily on the type of onset, namely the clinical manifestations ... infiltration and in the production of high levels of TNF-α, interleukin-1, and interleukin-6, which have a major role in the various clinical symptoms and tissue damage Flow CD8+ cells analysis of perforin ... standard deviations (SD) of the control group (χ2, P = 0.002) The same degree of NK cell dysfunction was observed in our previous studies of patients with MAS and HLH [17] The unpaired t-test and...
Ngày tải lên: 09/08/2014, 06:22
Báo cáo y học: "NPAS2 and PER2 are linked to risk factors of the metabolic syndrome" pps
... Germany), and those of gamma-glutamyltransferase (GGT) and uric acid (IFCC/ECCLS and URIKAASI PAP, Konelab, Thermo Electron Oy, Finland) Page of (page number not for citation purposes) Journal of Circadian ... abuse and dependence, and other substance dependence and abuse As part of the assessment, the participants filled in the items of lifetime seasonal variations in mood and behavior taken and adapted ... standards of the responsible committee on human experimentation and with the Declaration of Helsinki, its amendments and revision Results The allele frequencies and genotype distributions of...
Ngày tải lên: 10/08/2014, 09:20
Báo cáo y học: " Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report" doc
... lipodystrophic habitus, including lipoatrophy of the lower extremities but sparing of fat deposits in the abdominal region, face and neck Although the age of onset of her lipodystrophy is not known, she ... chromosomes, with the exception of the duplication on 5q33.2 (data not shown) within the genome of the patient: three copies of the entire X chromosome, and a duplication of 89 single nucleotide polymorphism ... of a lipodystrophy patient with triple X syndrome in a cohort of 29 women was surprising Partial lipodystrophy is rare, but estimates of prevalence are difficult due to the heterogeneity of clinical...
Ngày tải lên: 11/08/2014, 14:20
Báo cáo y học: "Chemical pneumonitis and subsequent reactive airways dysfunction syndrome after a single exposure to a household product: a case report" pptx
... information on the magnitude and duration of exposure at the time of an inhalational accident is often not available The pathogenesis of RADS, particularly the persistence of the asthmatic state, ... the development of RADS [10] In addition, increased concentrations of offending agents and wet aerosols are said to enhance the probability of developing RADS [11] Management of patients with ... the fumes A total of 28 individuals sought medical attention for respiratory symptoms before the product was recalled and 13 required medical treatment (Office of Information and Public Affairs...
Ngày tải lên: 11/08/2014, 17:21
Báo cáo y học: "Rapidly progressive Bronchiolitis Obliterans Organising Pneumonia presenting with pneumothorax, persistent air leak, acute respiratory distress syndrome and multi-organ dysfunction: a case report" pdf
... recurrence of the leak and development of a rapidly progressive 'acute inflammatory state' associated with multi-organ dysfunction, absence of infection and failure of broad-spectrum anti-microbials and ... ratio, is suggestive of BOOP Transbronchial [8] and CT guided percutaneous approaches have a poor yield due to the patchy distribution of BOOP and small sample size The differential diagnosis includes ... B, Coppin C, Pare P, Hogg JC: Differential diagnosis of bronchiolitis obliterans with organizing pneumonia and usual interstitial pneumonia: clinical, functional, and radiologic findings Radiology...
Ngày tải lên: 11/08/2014, 23:21
Báo cáo y học: "Close relationship of tissue plasminogen activator–plasminogen activator inhibitor-1 complex with multiple organ dysfunction syndrome investigated by means of the artificial pancreas" doc
... coagulation and fibrinolysis The mMOF score (mMOF score = MOF score – the points of coagulopathy of MOF score) was positively correlated with (a) the DIC score, (b) TAT and (d) tPA–PAI-1 complex, and ... better understanding of the aforementioned relationships and confirming the useful parameters will be helpful for the early diagnosis of the severity of sepsis and for the treatment of the septic ... microcirculation and leads to MODS [8,10] There were close correlations between MOF score (mMOF score) and TAT and tPA-PAI-1 complex, but no significant correlations between MOF score (mMOF score) and PAI-1,...
Ngày tải lên: 12/08/2014, 18:20
Báo cáo khoa học: "Cutaneous vascular reactivity and flow motion response to vasopressin in advanced vasodilatory shock and severe postoperative multiple organ dysfunction syndrome" pot
... continuous infusion of sufentanil and midazolam) There was no difference in the dosage of analgesic and sedative drugs between groups No patient was paralyzed at the time of study measurements ... transport and consumption variables, norepinephrine and milrinone requirements, as well as pH and arterial lactate concentrations were documented immediately before and hour after randomization ... No differences in the pre-ischaemic AUC of the Doppler signal and in the magnitude of reactive hyperaemia occurred between groups before and hour after randomization Patients receiving AVP/norepinephrine...
Ngày tải lên: 12/08/2014, 23:22
Báo cáo y học: "Argatroban therapy for heparin-induced thrombocytopenia in ICU patients with multiple organ dysfunction syndrome: a retrospective study" pps
... However, the diagnosis of HIT should be based on clinical considerations and treatment should not be delayed, pending laboratory confirmation [3,7] On suspicion of HIT, all sources of heparin should ... contributions BS, VP, and GM contributed to the conception and design of the study They were responsible for acquisition, analysis, and interpretation of data BS drafted the manuscript RMS and WH participated ... Spearman correlation, a limited number of factors with high a priori probability of impact on the mean argatroban dose (such as APACHE II score) and markers of hepatic and renal failure were included...
Ngày tải lên: 13/08/2014, 20:22