and hypo function of the thyroid gland

Báo cáo khoa học: Alpha-fetoprotein antagonizes X-linked inhibitor of apoptosis protein anticaspase activity and disrupts XIAP–caspase interaction ppt

Báo cáo khoa học: Alpha-fetoprotein antagonizes X-linked inhibitor of apoptosis protein anticaspase activity and disrupts XIAP–caspase interaction ppt

... cells and tissues [24–28] AFP is one of the major serum embryonic proteins involved in the regulation of growth and the development of immature embryonic tissues [29–31] The specific expression and ... of IBM of caspase and other IAP antagonists (Fig 6) In common with other IBMs, the IBMlike motif of AFP bears Ala at its N-termini The Ala residue within the IBM is highly conserved (Fig 6) and ... [48] Using the NMR structures of the BIR2 [49] and BIR3 [50] domains, the AFP(dimer) ⁄ BIR2–3 complex was constructed (Fig 7) In this complex, the Fig Hypothetical molecular model of the AFP(dimer)...

Ngày tải lên: 07/03/2014, 12:20

13 445 0
Báo cáo y học: " Mild autonomic dysfunction in primary Sjögren''''s syndrome: a controlled study" pptx

Báo cáo y học: " Mild autonomic dysfunction in primary Sjögren''''s syndrome: a controlled study" pptx

... is the ratio of the longest RR interval near to the 30th beat after standing to the shortest RR interval near to the 15th beat after standing Isometric grip ΔMBP The isometric grip ΔMBP is the ... seated before completion of the standing exercise (and were therefore excluded from this component of the analysis) because they exhibited symptoms of postural Page of 10 (page number not for ... Ohmeda) at the end of the 3-minute grip period minus the MBP just before commencing grip Valsalva ratio The Valsalva ratio is the ratio of the longest RR interval immediately after strain to the shortest...

Ngày tải lên: 09/08/2014, 10:23

10 922 0
Báo cáo y học: " A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report" doc

Báo cáo y học: " A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report" doc

... scan of the abdomen showed no abnormalities of the adrenal glands, or other abdominal organs Before the surgical removal of his CPAM, he was admitted with lethargy, vomiting, dehydration, hypotension, ... demyelination of of the parts of the bilateral Magnetic resonance imaging variousbrain showingbrain Magnetic resonance imaging of the brain showing bilateral symmetric demyelination of various parts of the ... manuscript SS treated the patient under the supervision of the pediatric consultants and contributed to the writing of the case report NC treated the patient, analyzed and interpreted his metabolic...

Ngày tải lên: 11/08/2014, 14:21

5 260 0
Một bệnh hiếm X-linked recessive hypoparathyroidism docx

Một bệnh hiếm X-linked recessive hypoparathyroidism docx

... triển bình thường Bệnh David bệnh di truyền, lưu truyền phái nam Bệnh có tên Xlinked recessive hypoparathyroidism (XRH, có lẽ tạm dịch Giảm cận giáp liệt liên quan đến nhiễm sắc thể X) Bệnh thấy ... Tuy nhiên, họ để ý thấy vài thân nhân David có vài mảng DNA bất bình thường nhiễm sắc thể X Tiếp theo nhà nghiên cứu truy tìm gien chung quanh mảng DNA bất bình thường đó, kết khả quan Mới đây, ... chức làm giảm lượng calcium máu Một calcium lên cao, calcitonin kích thích mức độ tiết calcium theo đường nước tiểu hay làm giảm việc chuyển hóa calcium từ xương máu ...

Ngày tải lên: 11/08/2014, 20:22

5 118 0
Báo cáo y học: "Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults" pot

Báo cáo y học: "Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults" pot

... Fluorescein isothiocyanate (C) The genomic organization of the human BTK gene and the domain structure of BTK cDNA Exons 1–19 of the BTK gene, and the BTK cDNA with its functional domains are shown ... here is the only adult-onset case of the 107 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 ... 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 is the reason why demonstration of BTK mosaicism...

Ngày tải lên: 12/08/2014, 18:20

5 217 0
Báo cáo y học: "X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature." pps

Báo cáo y học: "X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature." pps

... DNA sequencing of the BTK gene from each patient showed mutations in the PH domain of patient and the SH1 domain of patient Each of these mutations had been previously reported in the BTKbase online ... insertions, and 16% splicesite mutations [15] The distribution of mutations is relatively proportional to the size of each of the five domains Our two cases had mutations in the PH and SH1 domains ... 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...

Ngày tải lên: 13/08/2014, 13:22

7 543 0
Báo cáo y học: "Dosage compensation on the active X chromosome minimizes transcriptional noise of X-linked genes in mammals" pps

Báo cáo y học: "Dosage compensation on the active X chromosome minimizes transcriptional noise of X-linked genes in mammals" pps

... the same mean and standard deviation We simulated each using the same mean and standard deviation then considered the between-population CV as being the standard deviation between the Means of ... predicted otherwise? Second, 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 ... abundance Then we compared the CV1/CV2 ratios selected by this criterion with those of randomly selected pairs, regardless of differences in abundance of their transcripts between the cell lines The...

Ngày tải lên: 14/08/2014, 21:20

11 366 0
Báo cáo y học: " Autonomic Dysfunction Presenting as Postural Orthostatic Tachycardia Syndrome in Patients with Multiple Sclerosis"

Báo cáo y học: " Autonomic Dysfunction Presenting as Postural Orthostatic Tachycardia Syndrome in Patients with Multiple Sclerosis"

... who either had a prior history of MS or developed MS were identified for inclusion in the study The mean age at the time of diagnosis was 49±9 years and of the patients were women All the patients ... pathways in the insular, cingulated and ventromedial prefrontal cortices, central nucleus of the amygdala, paraventricular hypothalamus and the medulla In addition there can be interference with the ... 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...

Ngày tải lên: 26/10/2012, 09:39

6 478 0
Báo cáo khoa học: New insights into Fragile X syndrome Relating genotype to phenotype at the molecular level docx

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 ... syndrome, and that investigations of the I304N mutation play a key role in Fragile X research, there is no consensus in the Fragile X field on either the structural or functional consequences of the ... here represent the first biophysical characterizations of the KH domains of dFXRP The structure and stabilities of KH1-KH2(wild-type) and KH1-KH2(I307N) were compared, and show that the I307N mutation...

Ngày tải lên: 30/03/2014, 15:20

7 498 0
modeling fragile x syndrome

modeling fragile x syndrome

... which the rest of the book should be examined Of necessity the last two questions are only addressed briefly, and from one man’s point of view, as they contain the subject matter of the entirety of ... knockout mothers are even more active than the heterozygous wild-type offspring Thus, hyperactivity in the Fmr1 knockouts is the result of the combination of the maternal and the offspring genotype ... construct and use models In the realm of medicine and disease we who seek cures often model human maladies with other mammals, particularly primates (Fiandaca and Bankiewicz 2010) and rodents (Cryan and...

Ngày tải lên: 29/05/2014, 17:33

403 612 0
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

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

... using blotting paper and wrapped in cling film before placing them in the XRF beam Both theand Kβ peaks of the XRF photons were utilized The intensities of the incident and the transmitted beams ... 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 samples Subsequently the mass attenuation ... kVps, the grazing angle θ of 70°–75° gives the highest XRF photon intensity In all cases, the higher the kVp, the higher is the intensity The targets were then set at a grazing angle of 70° for the...

Ngày tải lên: 07/08/2014, 14:20

10 274 0
Báo cáo y học: "Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome" pot

Báo cáo y học: "Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome" pot

... relevant to the pathogenesis of the syndrome In the present study we sought to assess the extent of NK dysfunction in the most common rheumatic disease of childhood, JRA Materials and methods ... included in the study, the diagnosis of JRA was established on the basis of the American College of Rheumatology (ACR) diagnostic criteria [18] The main clinical characteristics of the patients ... (NKp46, NKp30, and NKp44) [31] These receptors have important biologic functions in the innate immune system, and their abnormal expression might have a function in the development of NK dysfunction...

Ngày tải lên: 09/08/2014, 06:22

8 365 0
Báo cáo y học: "NPAS2 and PER2 are linked to risk factors of the metabolic syndrome" pps

Báo cáo y học: "NPAS2 and PER2 are linked to risk factors of the metabolic syndrome" pps

... 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 ... according to the ethical standards of the responsible committee on human experimentation and with the Declaration of Helsinki, its amendments and revision Results The allele frequencies and genotype ... contributions AE drafted the manuscript LK carried out the genotyping and helped to draft the manuscript AE, LK, JH and TP participated in the design of the study and performed the statistical analysis...

Ngày tải lên: 10/08/2014, 09:20

9 482 0
Báo cáo y học: " Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report" doc

Báo cáo y học: " Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report" doc

... her 40s and another sister had an MI in her 30s The patient’s only family history of diabetes was in her maternal grandfather’s brother The patient was found to carry no mutation in any of the known ... 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 has had the same physiognomy ... 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...

Ngày tải lên: 11/08/2014, 14:20

5 348 0
Báo cáo y học: "Chemical pneumonitis and subsequent reactive airways dysfunction syndrome after a single exposure to a household product: a case report" pptx

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, ... caused the symptoms The mechanism of toxicity and determination of the exact agent responsible, however, is still under investigation The agents most frequently associated with the development of ... hyper-reactivity is often advocated Tapering of the inhaled corticosteroids is usually based on the clinical response to the treatment The response to treatment is variable and the condition may...

Ngày tải lên: 11/08/2014, 17:21

6 335 0
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

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

... with the management of this case while in hospital and have equally contributed to the design, drafting and editing of the article submitted The authors also acknowledge the contribution of other ... recovery, there was 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 ... pharmacological agents (Nitrofurantoin, Sulfasalazine) [6], chemotherapy, radiotherapy [7] and connective tissue disorders However the potential benefit of timely corticosteroid therapy in patients with...

Ngày tải lên: 11/08/2014, 23:21

3 185 0
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

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

... 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 ... confirmation of the capability of the AP for strict blood glucose control (by calculating the daily mean BG) and for the evaluation of the GT (M value) Whether the blood concentration of the stress-related ... 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...

Ngày tải lên: 12/08/2014, 18:20

12 204 0
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

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

... measurements and documentation, performed the statistical analysis, and helped to draft the manuscript KHS participated in the design of the study and performed the calculations for the microcirculatory ... measurements and documentation WRH conceived the study protocol, and helped to interpret the data and to draft the manuscript BF helped to interpret the data and to draft the manuscript HK conceived the ... Mean values of oscillation were used for statistical comparisons Statistical analysis The primary objective of the study was to evaluate differences in the AUC of the Doppler signal and the reactive...

Ngày tải lên: 12/08/2014, 23:22

7 228 0
Báo cáo y học: "Argatroban therapy for heparin-induced thrombocytopenia in ICU patients with multiple organ dysfunction syndrome: a retrospective study" pps

Báo cáo y học: "Argatroban therapy for heparin-induced thrombocytopenia in ICU patients with multiple organ dysfunction syndrome: a retrospective study" pps

... 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 ... of argatroban In contrast, no bolus of argatroban was used in our study to avoid a peak response of anticoagulation with the risk of bleeding complications The average rate of argatroban in the ... mean age of 70.0 ± 17.3 years and a mean weight of 69.5 ± 20.1 kg were enrolled in this study (Table 1) The mean APACHE II score on ICU admission and the mean SAPS II score on the day of initial...

Ngày tải lên: 13/08/2014, 20:22

7 349 0
w