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This document provides an overview of Huntington's disease (HD), comparing the motor and behavioral symptoms of adult-onset and juvenile HD. It discusses how HD is caused by an excessive repetition of CAG nucleotides on chromosome 4, which produces mutant huntingtin protein and leads to neurodegeneration of the striatum. While both forms share characteristics like chorea and behavioral abnormalities, juvenile HD tends to cause more severe symptoms like autism, learning problems, and spasticity. The document reviews several studies examining HD in animal models and humans.
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BIBLIOGRAPHY
The documents summarize research conducted by Paula Ladne and colleagues on various hematological malignancies and stem cell transplantation outcomes. The research includes studies on: 1) the role of PRAME in inhibiting myeloid differentiation; 2) the impact of CTGF expression on outcomes in acute lymphoblastic leukemia; 3) evidence of donor-derived hematologic malignancies after stem cell transplantation; and 4) development of techniques to detect minimal residual disease in leukemia patients.
ANA498Y_Final
This study aimed to differentiate between invasive squamous cell carcinoma (SCC) and carcinoma-in-situ (CIS) of the uterine cervix using immunohistochemical markers. Tissue samples from 37 patients were stained for CD3, CD4, CD8, CD20, and CD138. Scoring showed decreased expression of CD8, CD20, and CD138 in invasive SCC compared to CIS, indicating differences in immune cell infiltration between invasive and non-invasive lesions. The results provide potential markers for differentiating invasive SCC from CIS of the cervix.
Ebmt 2018 gps in mm koehne et al_with suppl slides_final_final_1.1.12_mar2018...
Galinpepimut-S (WT1-targeting peptide vaccine) in high-risk multiple myeloma. Final results from a Phase 2 clinical study. Koehne G, et al. EBMT 2018 slide presentation.
Publications and conferences
This document provides a list of publications and conference presentations by Tian L. The publications section lists 10 peer-reviewed journal articles published between 2014-2009 covering topics related to T cell receptor signaling, regulatory T cells, autoimmunity, and CD8+ T cell differentiation. The conferences section lists 3 conferences between 2012-2010 where Tian L presented oral presentations on immune tolerance and regulatory T cells.
regulatory-t-cells-and-their-implications-in-graft-versus-host-disease-2-pdf-1
This document summarizes research on regulatory T cells (Tregs) and their implications in graft-versus-host disease (GVHD). It discusses:
1) Tregs play an important role in maintaining immune homeostasis and preventing autoimmune diseases like GVHD.
2) Preclinical studies show that Treg depletion leads to worse GVHD in mice, while Treg adoptive transfer mitigates GVHD.
3) Clinical trials testing Treg immunotherapy for GVHD prevention and treatment have shown promising results, but more research is still needed to fully understand Treg subsets and develop effective Treg-based therapies.
LAMB3(2014)
Whole-exome sequencing of three affected family members identified a frameshift mutation in LAMB3 as the cause of dominant hypoplastic amelogenesis imperfecta in the family. The mutation was a single base pair insertion that caused a premature stop codon and co-segregated with the disease phenotype in the family. This is the first report of dominant AI caused by a heterozygous LAMB3 mutation, as LAMB3 mutations typically cause the skin blistering disorder junctional epidermolysis bullosa in a recessive manner. Identification of the pathogenic variant was achieved without prior linkage analysis through filtering of variants shared between the affected individuals sequenced.
GP120 pdf
This document summarizes research analyzing changes in the stability of the HIV-1 envelope protein gp120 during infection within two patients. Gp120 sequences were extracted from samples taken at multiple time points from each patient and analyzed evolutionarily. For one patient sampled over 212 days, gp120 stability decreased over time as mutations accumulated. Most mutations had a neutral effect on stability early in infection, but later mutations were more common in gp120's outer domain and decreased stability. This pattern was not seen in the other patient only sampled over 30 days. The decreasing stability over time raises questions about how this impacts HIV-1 fitness and host immune evasion.
Identification of a CpG Island Methylator Phenotype that Defines a Distinct S...
Identification of a CpG Island Methylator Phenotype that Defines a Distinct S...Prof. Wim Van Criekinge
This study identified a distinct subgroup of glioma tumors characterized by concerted DNA hypermethylation at many loci (G-CIMP). They analyzed 272 glioblastoma samples and found that 8.8% displayed this G-CIMP phenotype. G-CIMP tumors belonged primarily to the proneural subtype and were associated with IDH1 mutations. Patients with G-CIMP tumors were younger at diagnosis and had significantly improved outcomes. These findings establish G-CIMP as a distinct molecular and clinical subtype of gliomas.Recommended
BIBLIOGRAPHY
The documents summarize research conducted by Paula Ladne and colleagues on various hematological malignancies and stem cell transplantation outcomes. The research includes studies on: 1) the role of PRAME in inhibiting myeloid differentiation; 2) the impact of CTGF expression on outcomes in acute lymphoblastic leukemia; 3) evidence of donor-derived hematologic malignancies after stem cell transplantation; and 4) development of techniques to detect minimal residual disease in leukemia patients.
ANA498Y_Final
This study aimed to differentiate between invasive squamous cell carcinoma (SCC) and carcinoma-in-situ (CIS) of the uterine cervix using immunohistochemical markers. Tissue samples from 37 patients were stained for CD3, CD4, CD8, CD20, and CD138. Scoring showed decreased expression of CD8, CD20, and CD138 in invasive SCC compared to CIS, indicating differences in immune cell infiltration between invasive and non-invasive lesions. The results provide potential markers for differentiating invasive SCC from CIS of the cervix.
Ebmt 2018 gps in mm koehne et al_with suppl slides_final_final_1.1.12_mar2018...
Galinpepimut-S (WT1-targeting peptide vaccine) in high-risk multiple myeloma. Final results from a Phase 2 clinical study. Koehne G, et al. EBMT 2018 slide presentation.
Publications and conferences
This document provides a list of publications and conference presentations by Tian L. The publications section lists 10 peer-reviewed journal articles published between 2014-2009 covering topics related to T cell receptor signaling, regulatory T cells, autoimmunity, and CD8+ T cell differentiation. The conferences section lists 3 conferences between 2012-2010 where Tian L presented oral presentations on immune tolerance and regulatory T cells.
regulatory-t-cells-and-their-implications-in-graft-versus-host-disease-2-pdf-1
This document summarizes research on regulatory T cells (Tregs) and their implications in graft-versus-host disease (GVHD). It discusses:
1) Tregs play an important role in maintaining immune homeostasis and preventing autoimmune diseases like GVHD.
2) Preclinical studies show that Treg depletion leads to worse GVHD in mice, while Treg adoptive transfer mitigates GVHD.
3) Clinical trials testing Treg immunotherapy for GVHD prevention and treatment have shown promising results, but more research is still needed to fully understand Treg subsets and develop effective Treg-based therapies.
LAMB3(2014)
Whole-exome sequencing of three affected family members identified a frameshift mutation in LAMB3 as the cause of dominant hypoplastic amelogenesis imperfecta in the family. The mutation was a single base pair insertion that caused a premature stop codon and co-segregated with the disease phenotype in the family. This is the first report of dominant AI caused by a heterozygous LAMB3 mutation, as LAMB3 mutations typically cause the skin blistering disorder junctional epidermolysis bullosa in a recessive manner. Identification of the pathogenic variant was achieved without prior linkage analysis through filtering of variants shared between the affected individuals sequenced.
GP120 pdf
This document summarizes research analyzing changes in the stability of the HIV-1 envelope protein gp120 during infection within two patients. Gp120 sequences were extracted from samples taken at multiple time points from each patient and analyzed evolutionarily. For one patient sampled over 212 days, gp120 stability decreased over time as mutations accumulated. Most mutations had a neutral effect on stability early in infection, but later mutations were more common in gp120's outer domain and decreased stability. This pattern was not seen in the other patient only sampled over 30 days. The decreasing stability over time raises questions about how this impacts HIV-1 fitness and host immune evasion.
Identification of a CpG Island Methylator Phenotype that Defines a Distinct S...
Identification of a CpG Island Methylator Phenotype that Defines a Distinct S...Prof. Wim Van Criekinge
This study identified a distinct subgroup of glioma tumors characterized by concerted DNA hypermethylation at many loci (G-CIMP). They analyzed 272 glioblastoma samples and found that 8.8% displayed this G-CIMP phenotype. G-CIMP tumors belonged primarily to the proneural subtype and were associated with IDH1 mutations. Patients with G-CIMP tumors were younger at diagnosis and had significantly improved outcomes. These findings establish G-CIMP as a distinct molecular and clinical subtype of gliomas.Scientific Publications and Scholarly National and International Presentations
Theresa Swift-Scanlan has authored 34 scientific publications and given 32 scholarly presentations both nationally and internationally. Her publications span from 1992 to the present and cover topics including breast cancer research, DNA methylation profiling, dopamine signaling, and bipolar disorder genetics. She has served as senior or corresponding author on many publications and her work has been published in high impact factor journals such as Cancer, Epidemiology, Biomarkers and Prevention, Breast Cancer Research, and Journal of Cognitive Neuroscience.
Dr. David Guillespie - Identificación de dianas de daño en el DNA en la terap...
Presentación del Dr. David Guillespie, investigador contratado por el CIBICAN - Universidad de La Laguna gracias al Proyecto Europeo IMBRAIN, en relación a los resultados alcanzados durante la ejecución del mismo y los planes de futuro. La misma se presentó durante las Jornadas IMBRAIN llevadas a cabo el 13 de Octubre de 2015 en la Sección de Física en la Universidad de La Laguna
Virology
This study examined genetic variants of IL28B rs12979860 as predictors of interferon-based therapy outcomes in people with hepatitis C virus (HCV) in Pakistan. The study found that HCV subgenotype 3a was most prevalent and had higher response rates to therapy than subtype 1a. Carriage of the IL28B rs12979860 CC genotype was associated with higher sustained virological response rates to therapy. In contrast, the IL28B rs8099917 polymorphism was not associated with therapy outcomes. The study concludes that HCV genotype and IL28B rs12979860 can help predict the effectiveness of interferon-plus-ribavirin combination therapy for HCV in Pakistan.
Human Genetic Variation poster
Human genetic variation can influence treatment prognosis for hepatitis C virus (HCV). A single nucleotide polymorphism near the IFNL3 gene indicates natural resistance to type 1 HCV, with the T variant associated with poorer treatment outcomes. Additionally, a polymorphism in the interleukin-23 receptor gene correlates with reduced risk of HCV-related liver cancer. HCV appears to have evolved to benefit from allelic variations between geographic regions. Future treatment may focus on precise virus-genome interactions. Mapping the entire human genome could increase understanding of connections between HCV and its human host.
List of Publications_Dr Kerrie Smith
This document provides a list of 12 original research papers, 1 invited review article, and 11 conference proceedings that were authored or co-authored by K.A. Smith relating to factor XIII and fibrinogen. The papers were published in peer-reviewed journals between 2008-2016 and cover topics like characterizing reactive glutamines in fibrinogen, developing inhibitors of factor XIII-A, the role of complement C3 in fibrin clots, and interactions between factor XIII and fibrinogen.
GKA deel 2 college 5
The document discusses research into genes that provide resistance to HIV infection. It summarizes studies that found a deletion in the CCR5 gene, known as CCR5 Δ32, provides resistance. This mutation prevents expression of the CCR5 receptor on cell surfaces, which HIV uses to enter cells. Those with one copy of the CCR5 Δ32 mutation (heterozygotes) showed a 2-3 year delay in AIDS progression when untreated. The allele is predominantly found in white populations and provides a protective effect against HIV infection. Vaccine research also looked at viruses with deletions in genes like Nef that allow for less replication and infectivity.
2020 Transplant Immunogenicity Calculator : Fiction or Reality? - prof. Ahmed...
This document discusses transplant immunogenicity and summarizes several studies on predicting immunogenicity of HLA mismatches. It finds that:
1) Not all HLA antigen mismatches are equally immunogenic, and some provoke stronger rejection responses than others. Some donor-recipient HLA combinations are considered "taboo" as they are highly immunogenic.
2) Studies have identified a potential hierarchy of HLA antigens in terms of immunogenicity, with some like DR5/A2 mismatches associated with worse outcomes.
3) Newer methods using epitope-level analysis like HLAMatchmaker and PIRCHE II can better predict immunogenicity and risk of de novo donor-specific antibodies than serological HLA typing alone
Ss1
This document lists over 60 potential factors that are known to cause false positive HIV antibody test results. These factors include naturally occurring antibodies, viral infections like hepatitis B, autoimmune diseases, organ transplants, blood transfusions, and various medical treatments. False positives can also be caused by cross-reactivity with antibodies against other viruses or proteins as well as certain laboratory testing issues. Proper screening and confirmatory testing is necessary to avoid incorrect HIV diagnoses due to false positive initial test results from these many different sources.
Review Paper-Gene Therapy for the Treatment of Cystic Fibrosis
Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene. Gene therapy aims to insert a normal copy of this gene to restore function. While conceptually simple, gene therapy for cystic fibrosis has proven difficult in practice due to biological barriers and challenges with delivery vectors. Early clinical trials used adenoviral vectors administered to the nose with limited success. Subsequent trials delivered vectors directly to the lungs but were also unsuccessful. Recent trials have focused on non-viral vectors which allow for repeated administration and show promise, though further development is still needed to achieve an effective treatment through gene therapy.
261 molecular genetics and micro arrays
This document summarizes several studies that used microarray technology to analyze gene expression in cardiovascular tissues and cells:
1) Studies analyzed atherosclerotic lesions and correlated gene expression with the vulnerability and pathogenesis of lesions.
2) Other studies analyzed gene expression changes in cardiac growth, development, and response to injury as well as during viral infection.
3) Gene expression in vascular cells and tissues was also analyzed in response to mechanical stress, inflammation, and other cardiovascular conditions like atherosclerosis and hypertension.
srep08308 Bidii
This document analyzes genetic markers associated with artemisinin resistance in Plasmodium falciparum parasites collected in western Kenya before and after the introduction of artemisinin combination therapies (ACTs). Twenty-five single nucleotide polymorphisms (SNPs) on chromosomes 13 and 14 and pfmdr1 gene copy number were analyzed. Fifteen SNPs were present in pre-ACT isolates, but only six were present in post-ACT isolates. Post-ACT isolates had significantly higher pfmdr1 copy numbers than pre-ACT isolates. No SNPs were associated with parasite clearance half-life. The results suggest the genetic signature of artemisinin resistance in African parasites may differ from that in Southeast Asian parasites.
AACR 2017 Abstract-Matthew Rotondi 110316
This study aimed to identify protein binding partners of the EWS-FLI1 transcription factor in Ewing sarcoma cell lines to serve as alternative drug targets. Yeast two-hybrid screening identified several potential binding partners, including DAX1, MBD1, and MAN2B2. Proliferation assays showed knockdown of DAX1 and MBD1 significantly reduced proliferation in Ewing sarcoma cell lines but not in a non-Ewing control cell line. Knockdown of MLL3 reduced proliferation of two Ewing sarcoma cell lines. These results suggest DAX1, MBD1, and MLL3, as EWS-FLI1 binding partners, could provide potential targets for
Effector Mechanisms in Transplant Rejection
The document discusses three major effector mechanisms involved in transplant rejection: cytotoxic T lymphocytes, delayed-type hypersensitivity responses, and antibodies with complement activation. Cytotoxic T lymphocytes directly kill donor cells through granzyme exocytosis and Fas/FasL pathways. CD4+ T cells mediate delayed-type hypersensitivity by secreting cytokines like IFN-γ and TNF that activate other immune cells and cause local inflammation and graft injury. Alloantibodies produced by plasma cells via CD4+ T cell help bind donor cells and activate the complement cascade to cause cell lysis or mark cells for destruction by other immune effector cells.
Alternative lengthening of telomeres is enriched in, and impacts survival of ...
This study investigated the prevalence and significance of alternative lengthening of telomeres (ALT) in pediatric brain tumors. The researchers screened 517 pediatric brain tumor samples for ALT using the C-circle assay and validated the results with other assays. They found that ALT was detected in a subset of malignant pediatric brain tumors, especially primitive neuroectodermal tumors, choroid plexus carcinomas, and high-grade gliomas. Somatic mutations in TP53 were strongly associated with ALT. ALT attenuated the poor prognosis associated with TP53 mutations in some tumor types. ALT positive tumors had higher survival rates than ALT negative tumors for children with TP53 mutant malignant gliomas and choroid plexus carcinomas. This suggests ALT may impact survival
Candidemia in HIV-positive patients in Dschang District Hospital (West Region...
Candidemia has been identified as a public health problem in HIV-infected patients. The evaluation of CD4 count, transaminases and blood glucose, are being used as a means to monitor the health of HIV-infected patients, without excluding the diagnosis of candidemia and other opportunistic infections. In order to contribute in improving the care of HIV-infected patients attending Dschang District Hospital and later on, in other hospitals in Cameroon, we conducted from June to September 2014 a cross-sectional study, with general objective; to determine the association between candidemia and selected biochemical and haematological parameter changes in HIV-infected patients, as a possible indicator in monitoring HIV disease progression.
To do this, blood samples were collected from HIV-infected patients assigned to the UPEC of Dschang District Hospital for follow up, and haemogram report, CD4 counts, ALAT level, ASAT level, and glucose level in blood were evaluated by cytometric and spectrophotometric assays. Candida species were isolated from some blood samples, and then identified using CHROMagar Candida culture medium. The broth microdilution method was afterwards used to test the susceptibility of the fungal isolates vis-a-vis three conventional antifungal agents.
Mycological analysis of blood samples showed that eight (08) patients had candidemia, a prevalence of 6.11%. Eight (08) isolates were obtained from these eight (08) candidemic HIV-infected patients; this consisted of 4(50%) Candida albicans, 3(37.5%) Candida parapsilosis and 1(12.5%) Candida glabrata. All these isolates were resistant (MICs ranged from 2 to >256 µg/mL) to the antifungals used, that is, ketoconazole, amphotericin B and nystatin.
A significant correlation was found between candidemia and white blood cell count, with a correlation coefficient of r = 0.240 (p < 0.05). Based on the results obtained, the systematic diagnosis of candidemia should be performed in patients infected with HIV in Cameroon in order to improve on their care.
Key words: Candidemia, HIV, biochemical parameters, hematological parameters, Antifungals activities.
HLA-G may predict the disease course in patients with early Rheumatoid Arthritis
This study examined whether HLA-G expression could predict disease progression in patients with early rheumatoid arthritis (ERA). The study found that ERA patients had significantly lower serum HLA-G levels compared to controls. However, disease-modifying antirheumatic drug (DMARD) therapy led to increased HLA-G expression and lower inflammatory cytokine levels over 12 months. Patients with initially lower HLA-G expression experienced a more severe disease course. The results suggest that DMARD therapy modifies HLA-G secretion and exerts its disease-modifying effects in ERA partly by suppressing the Th1 immune response.
G. Ceresoli - Lung cancer - State of the art
The document summarizes information about lung cancer, including:
1) Lung cancer subtypes are small cell carcinoma (13%), large cell carcinoma (5%), adenocarcinoma (38.3%), and squamous cell carcinoma (19.7%).
2) Adjuvant chemotherapy in resected early-stage non-small cell lung cancer (NSCC) improves survival compared to surgery alone, though benefits vary by stage. Platinum-based regimens like cisplatin and vinorelbine are commonly used.
3) For locally advanced unresectable NSCLC, concurrent chemoradiotherapy is superior to sequential chemotherapy and radiotherapy, improving median and 5-year survival.
Clinical Genomics for Personalized Cancer Medicine: Recent Advances, Challeng...
I reviewed recent advances, challenges, and opportunities to implement clinical cancer genomics. Case studies of advanced systems, such as Foundation Medicine, MI-ONCOSEQ are introduced for benchmark. A few fundamental limitations to establish personalized oncology are also discussed.
Population genetics - How HIV-1 affect the body. CCR5 delta32
This document discusses population genetics and ecology. It presents information from a group consisting of 8 members studying how HIV affects the body. HIV attacks CD4 cells, making the body more susceptible to other infections. When the CD4 count drops below 200, AIDS develops. The document also discusses how some individuals carry a mutation, CCR5Δ32, that protects against HIV infection by preventing the virus from entering cells. Understanding this resistance could lead to new treatments. An example calculation of allelic frequencies in a sample French population in Britain is also provided.
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Mary Maloney is waiting for her husband Patrick to return home from work. When he arrives, he tells her shocking news - that he wants a divorce. Enraged, Mary hits Patrick over the head with a frozen leg of lamb, killing him. She then stages the crime scene to look like an accident and calls the police. When they arrive, she pretends to be distraught over discovering his body. The police begin to investigate, finding evidence of dried blood on Patrick's head.
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Scientific Publications and Scholarly National and International Presentations
Theresa Swift-Scanlan has authored 34 scientific publications and given 32 scholarly presentations both nationally and internationally. Her publications span from 1992 to the present and cover topics including breast cancer research, DNA methylation profiling, dopamine signaling, and bipolar disorder genetics. She has served as senior or corresponding author on many publications and her work has been published in high impact factor journals such as Cancer, Epidemiology, Biomarkers and Prevention, Breast Cancer Research, and Journal of Cognitive Neuroscience.
Dr. David Guillespie - Identificación de dianas de daño en el DNA en la terap...
Presentación del Dr. David Guillespie, investigador contratado por el CIBICAN - Universidad de La Laguna gracias al Proyecto Europeo IMBRAIN, en relación a los resultados alcanzados durante la ejecución del mismo y los planes de futuro. La misma se presentó durante las Jornadas IMBRAIN llevadas a cabo el 13 de Octubre de 2015 en la Sección de Física en la Universidad de La Laguna
Virology
This study examined genetic variants of IL28B rs12979860 as predictors of interferon-based therapy outcomes in people with hepatitis C virus (HCV) in Pakistan. The study found that HCV subgenotype 3a was most prevalent and had higher response rates to therapy than subtype 1a. Carriage of the IL28B rs12979860 CC genotype was associated with higher sustained virological response rates to therapy. In contrast, the IL28B rs8099917 polymorphism was not associated with therapy outcomes. The study concludes that HCV genotype and IL28B rs12979860 can help predict the effectiveness of interferon-plus-ribavirin combination therapy for HCV in Pakistan.
Human Genetic Variation poster
Human genetic variation can influence treatment prognosis for hepatitis C virus (HCV). A single nucleotide polymorphism near the IFNL3 gene indicates natural resistance to type 1 HCV, with the T variant associated with poorer treatment outcomes. Additionally, a polymorphism in the interleukin-23 receptor gene correlates with reduced risk of HCV-related liver cancer. HCV appears to have evolved to benefit from allelic variations between geographic regions. Future treatment may focus on precise virus-genome interactions. Mapping the entire human genome could increase understanding of connections between HCV and its human host.
List of Publications_Dr Kerrie Smith
This document provides a list of 12 original research papers, 1 invited review article, and 11 conference proceedings that were authored or co-authored by K.A. Smith relating to factor XIII and fibrinogen. The papers were published in peer-reviewed journals between 2008-2016 and cover topics like characterizing reactive glutamines in fibrinogen, developing inhibitors of factor XIII-A, the role of complement C3 in fibrin clots, and interactions between factor XIII and fibrinogen.
GKA deel 2 college 5
The document discusses research into genes that provide resistance to HIV infection. It summarizes studies that found a deletion in the CCR5 gene, known as CCR5 Δ32, provides resistance. This mutation prevents expression of the CCR5 receptor on cell surfaces, which HIV uses to enter cells. Those with one copy of the CCR5 Δ32 mutation (heterozygotes) showed a 2-3 year delay in AIDS progression when untreated. The allele is predominantly found in white populations and provides a protective effect against HIV infection. Vaccine research also looked at viruses with deletions in genes like Nef that allow for less replication and infectivity.
2020 Transplant Immunogenicity Calculator : Fiction or Reality? - prof. Ahmed...
This document discusses transplant immunogenicity and summarizes several studies on predicting immunogenicity of HLA mismatches. It finds that:
1) Not all HLA antigen mismatches are equally immunogenic, and some provoke stronger rejection responses than others. Some donor-recipient HLA combinations are considered "taboo" as they are highly immunogenic.
2) Studies have identified a potential hierarchy of HLA antigens in terms of immunogenicity, with some like DR5/A2 mismatches associated with worse outcomes.
3) Newer methods using epitope-level analysis like HLAMatchmaker and PIRCHE II can better predict immunogenicity and risk of de novo donor-specific antibodies than serological HLA typing alone
Ss1
This document lists over 60 potential factors that are known to cause false positive HIV antibody test results. These factors include naturally occurring antibodies, viral infections like hepatitis B, autoimmune diseases, organ transplants, blood transfusions, and various medical treatments. False positives can also be caused by cross-reactivity with antibodies against other viruses or proteins as well as certain laboratory testing issues. Proper screening and confirmatory testing is necessary to avoid incorrect HIV diagnoses due to false positive initial test results from these many different sources.
Review Paper-Gene Therapy for the Treatment of Cystic Fibrosis
Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene. Gene therapy aims to insert a normal copy of this gene to restore function. While conceptually simple, gene therapy for cystic fibrosis has proven difficult in practice due to biological barriers and challenges with delivery vectors. Early clinical trials used adenoviral vectors administered to the nose with limited success. Subsequent trials delivered vectors directly to the lungs but were also unsuccessful. Recent trials have focused on non-viral vectors which allow for repeated administration and show promise, though further development is still needed to achieve an effective treatment through gene therapy.
261 molecular genetics and micro arrays
This document summarizes several studies that used microarray technology to analyze gene expression in cardiovascular tissues and cells:
1) Studies analyzed atherosclerotic lesions and correlated gene expression with the vulnerability and pathogenesis of lesions.
2) Other studies analyzed gene expression changes in cardiac growth, development, and response to injury as well as during viral infection.
3) Gene expression in vascular cells and tissues was also analyzed in response to mechanical stress, inflammation, and other cardiovascular conditions like atherosclerosis and hypertension.
srep08308 Bidii
This document analyzes genetic markers associated with artemisinin resistance in Plasmodium falciparum parasites collected in western Kenya before and after the introduction of artemisinin combination therapies (ACTs). Twenty-five single nucleotide polymorphisms (SNPs) on chromosomes 13 and 14 and pfmdr1 gene copy number were analyzed. Fifteen SNPs were present in pre-ACT isolates, but only six were present in post-ACT isolates. Post-ACT isolates had significantly higher pfmdr1 copy numbers than pre-ACT isolates. No SNPs were associated with parasite clearance half-life. The results suggest the genetic signature of artemisinin resistance in African parasites may differ from that in Southeast Asian parasites.
AACR 2017 Abstract-Matthew Rotondi 110316
This study aimed to identify protein binding partners of the EWS-FLI1 transcription factor in Ewing sarcoma cell lines to serve as alternative drug targets. Yeast two-hybrid screening identified several potential binding partners, including DAX1, MBD1, and MAN2B2. Proliferation assays showed knockdown of DAX1 and MBD1 significantly reduced proliferation in Ewing sarcoma cell lines but not in a non-Ewing control cell line. Knockdown of MLL3 reduced proliferation of two Ewing sarcoma cell lines. These results suggest DAX1, MBD1, and MLL3, as EWS-FLI1 binding partners, could provide potential targets for
Effector Mechanisms in Transplant Rejection
The document discusses three major effector mechanisms involved in transplant rejection: cytotoxic T lymphocytes, delayed-type hypersensitivity responses, and antibodies with complement activation. Cytotoxic T lymphocytes directly kill donor cells through granzyme exocytosis and Fas/FasL pathways. CD4+ T cells mediate delayed-type hypersensitivity by secreting cytokines like IFN-γ and TNF that activate other immune cells and cause local inflammation and graft injury. Alloantibodies produced by plasma cells via CD4+ T cell help bind donor cells and activate the complement cascade to cause cell lysis or mark cells for destruction by other immune effector cells.
Alternative lengthening of telomeres is enriched in, and impacts survival of ...
This study investigated the prevalence and significance of alternative lengthening of telomeres (ALT) in pediatric brain tumors. The researchers screened 517 pediatric brain tumor samples for ALT using the C-circle assay and validated the results with other assays. They found that ALT was detected in a subset of malignant pediatric brain tumors, especially primitive neuroectodermal tumors, choroid plexus carcinomas, and high-grade gliomas. Somatic mutations in TP53 were strongly associated with ALT. ALT attenuated the poor prognosis associated with TP53 mutations in some tumor types. ALT positive tumors had higher survival rates than ALT negative tumors for children with TP53 mutant malignant gliomas and choroid plexus carcinomas. This suggests ALT may impact survival
Candidemia in HIV-positive patients in Dschang District Hospital (West Region...
Candidemia has been identified as a public health problem in HIV-infected patients. The evaluation of CD4 count, transaminases and blood glucose, are being used as a means to monitor the health of HIV-infected patients, without excluding the diagnosis of candidemia and other opportunistic infections. In order to contribute in improving the care of HIV-infected patients attending Dschang District Hospital and later on, in other hospitals in Cameroon, we conducted from June to September 2014 a cross-sectional study, with general objective; to determine the association between candidemia and selected biochemical and haematological parameter changes in HIV-infected patients, as a possible indicator in monitoring HIV disease progression.
To do this, blood samples were collected from HIV-infected patients assigned to the UPEC of Dschang District Hospital for follow up, and haemogram report, CD4 counts, ALAT level, ASAT level, and glucose level in blood were evaluated by cytometric and spectrophotometric assays. Candida species were isolated from some blood samples, and then identified using CHROMagar Candida culture medium. The broth microdilution method was afterwards used to test the susceptibility of the fungal isolates vis-a-vis three conventional antifungal agents.
Mycological analysis of blood samples showed that eight (08) patients had candidemia, a prevalence of 6.11%. Eight (08) isolates were obtained from these eight (08) candidemic HIV-infected patients; this consisted of 4(50%) Candida albicans, 3(37.5%) Candida parapsilosis and 1(12.5%) Candida glabrata. All these isolates were resistant (MICs ranged from 2 to >256 µg/mL) to the antifungals used, that is, ketoconazole, amphotericin B and nystatin.
A significant correlation was found between candidemia and white blood cell count, with a correlation coefficient of r = 0.240 (p < 0.05). Based on the results obtained, the systematic diagnosis of candidemia should be performed in patients infected with HIV in Cameroon in order to improve on their care.
Key words: Candidemia, HIV, biochemical parameters, hematological parameters, Antifungals activities.
HLA-G may predict the disease course in patients with early Rheumatoid Arthritis
This study examined whether HLA-G expression could predict disease progression in patients with early rheumatoid arthritis (ERA). The study found that ERA patients had significantly lower serum HLA-G levels compared to controls. However, disease-modifying antirheumatic drug (DMARD) therapy led to increased HLA-G expression and lower inflammatory cytokine levels over 12 months. Patients with initially lower HLA-G expression experienced a more severe disease course. The results suggest that DMARD therapy modifies HLA-G secretion and exerts its disease-modifying effects in ERA partly by suppressing the Th1 immune response.
G. Ceresoli - Lung cancer - State of the art
The document summarizes information about lung cancer, including:
1) Lung cancer subtypes are small cell carcinoma (13%), large cell carcinoma (5%), adenocarcinoma (38.3%), and squamous cell carcinoma (19.7%).
2) Adjuvant chemotherapy in resected early-stage non-small cell lung cancer (NSCC) improves survival compared to surgery alone, though benefits vary by stage. Platinum-based regimens like cisplatin and vinorelbine are commonly used.
3) For locally advanced unresectable NSCLC, concurrent chemoradiotherapy is superior to sequential chemotherapy and radiotherapy, improving median and 5-year survival.
Clinical Genomics for Personalized Cancer Medicine: Recent Advances, Challeng...
I reviewed recent advances, challenges, and opportunities to implement clinical cancer genomics. Case studies of advanced systems, such as Foundation Medicine, MI-ONCOSEQ are introduced for benchmark. A few fundamental limitations to establish personalized oncology are also discussed.
Population genetics - How HIV-1 affect the body. CCR5 delta32
This document discusses population genetics and ecology. It presents information from a group consisting of 8 members studying how HIV affects the body. HIV attacks CD4 cells, making the body more susceptible to other infections. When the CD4 count drops below 200, AIDS develops. The document also discusses how some individuals carry a mutation, CCR5Δ32, that protects against HIV infection by preventing the virus from entering cells. Understanding this resistance could lead to new treatments. An example calculation of allelic frequencies in a sample French population in Britain is also provided.
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Differentially were discussed lichen planus, postinflammatory hyperpigmentation, contact dermatitis, fixed drug reaction.
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A Comprehensive Comparison Powerpoint
- 1. Jennifer K. Ocasio Biol. 3095-142 A Comprehensive Comparison of the Motor and Behavioral Symptoms of Adult-Onset and Juvenile Huntington’s Disease
- 2. George Huntington Greek word choreia Excessive repetition of CAG on chromosome 4 Normal: less than 25 Unaffected Huntington’s: 25-35 Adult-Onset: 36-40 Juvenile: more than 40 Introduction
- 3. CAG repetitions in chromosome 4 Produces mutant huntingtin Neurodegeneration of the striatum Characteristic involuntary movements Chorea Behavioral abnormalities Common Aspects
- 4. On the left is a section of an HD brain demonstrating the damage to the striatum. On the right is the brain of a normal person Neurodegeneration of the striatum caused by Huntington’s disease. There are few neurons left and reactive gliosis (neuroinflammation) Unaffected brain with neurons and no inflammation
- 5. CAG repetitions Graeme et al. yeast artificial chromosome mice Electrophysiological abnormalities Cytoplasmic toxicity Behavioral abnormalities Rapid circling Confusion Prevalent Differences
- 6. Laforet et al. transgenic mice Gait Hyperactivity levels Balance Clasping Disorientation Prevalent Differences
- 7. Concentration of mutant huntingtin Autism Learning problems Spasticity Psychological problems Prevalent Differences
- 8. 4 to 8 per 100,000 people have HD 5 to 10% are Juvenile cases Dominant hereditary disorder Conclusion
- 9. Aronin N, Chase K, Young C, Sapp E, Schwarz C, Matta N, Kornreich R, Lanwehrmeyer B, Bird E, Beal M, Vonsattel J, Smith T, Carraway R, Boyce F, Young A, Penney J and DiFiglia M. 1995. CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain. Neur. 15(5):1193-1201. Carter R, Lione L, Humby T, Mangiarini L, Mahal A, Bates G, Dunnett S and Morton J. 1999. Characterization of Progressive Motor Deficits in Mice Transgenic for the Human Huntington’s Disease Mutation. J Neurosci. 19(8):3248–3257 Graeme J, Agopyan N, Gutekunst C, Leavitt B, LePiane F, Singaraja R, Smith D, Bissada N, McCutcheon K, Nasir J, Jamot L, Li X, Stevens M, Rosemond E, Roder J, Phillips A, Rubin E, Hersch S, and Hayden M. 1999. A YAC Mouse Model for Huntington's Disease with Full-Length Mutant Huntingtin, Cytoplasmic Toxicity, and Selective StriatalNeurodegeneration. Neur. 23(1):181-192. References
- 10. Harper PS, Lim C and Craufurt D. 2000. Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium. J Med Genet. 37(8):567-571. Huntington G. 2003. On Chorea. J NeuropsychClinNeurosci. 15:109-112. Laforet G, Sapp E, Chase K, McIntyre C, Boyce F, Campbell M, Cadigan B, Warzecki L, Tagle D, Hemachandra P, Cepeda C, Calvert C, Jokel E, Klapstein G, Ariano M, Levine M, DiFiglia M, and Aronin N. 2001. Changes in Cortical and Striatal Neurons Predict Behavioral and Electrophysiological Abnormalities in a Transgenic Murine Model of Huntington’s Disease. J Neurosci, 21(23):9112–9123. Montoya A, Price BH, Menear M and Lepage M. 2006. Brain imaging and cognitive dysfunctions in Huntington's disease. J Psych Neurosci. 31(1):21-9. References
- 11. National Institute of Neurological Disorders and Stroke. 2009. Huntington's Disease: Hope Through Research. <http://www.ninds.nih.gov/disorders/huntington/detail_ huntington.htm#135523137> Accessed 2009 Sep 13. National Research Roster for Huntington Disease Patients & Families. 2004. The Brain & HD. <http://hdroster.iu.edu/AboutHD/brainAndHD.asp> Accessed 2009 Dec 4. Revilla FJ and Grutzendler J. 2008. Huntington Disease. Huntington Disease: eMedicine Neurology. <http://emedicine.medscape.com/article/1150165-overview> Accessed 2009 Sep 13. Squitieri F, Frati L, Ciarmiello A, Lastoria S and Quarrell O. 2006. Juvenile Huntington's disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease? Mech Age Devel. 127(2):208-212 References