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29 results on '"Quan, Joanne"'

4. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Author

Pediatría, Pediatria, Domínguez González, Cristina, Madruga Garrido, Marcos, Hirano, Michio, Martí Carrera, María Itxaso, Martín, Miguel A., Munell, Francina, Nascimento, Andrés, Olivé, Montse, Quan, Joanne, Sardina, María Dolores, Martí, Ramón, Paradas, Carmen, Pediatría, Pediatria, Domínguez González, Cristina, Madruga Garrido, Marcos, Hirano, Michio, Martí Carrera, María Itxaso, Martín, Miguel A., Munell, Francina, Nascimento, Andrés, Olivé, Montse, Quan, Joanne, Sardina, María Dolores, Martí, Ramón, and Paradas, Carmen

Abstract

[EN]Background: Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. Here, we describe a unique collaborative practice model among physicians and scientists in Spain focused on identifying TK2 deficiency (TK2d), an ultra-rare mitochondrial DNA depletion and deletions syndrome. Main Body: This collaboration spans research and clinical care, including laboratory scientists, adult and pediatric neuromuscular clinicians, geneticists, and pathologists, and has resulted in diagnosis and consolidation of care for patients with TK2d. The incidence ofTK2d is not known; however, the first clinical cases ofTK2d were reported in 2001, and only similar to 107 unique cases had been reported as of 2018. This unique collaboration in Spain has led to the diagnosis of more than 30 patients with genetically confirmed TK2d across different regions of the country. Research affiliate centers have led investigative treatment with nucleosides based on understanding ofTK2d clinical manifestations and disease mechanisms, which resulted in successful treatment of a TK2d mouse model with nucleotide therapy in 2010. Only 1 year later, this collaboration enabled rapid adoption of treatment with pyrimidine nucleotides (and later, nucleosides) under compassionate use. Success in TK2d diagnosis and treatment in Spain is attributable to two important factors: Spain's fully public national healthcare system, and the designation in 2015 of major National Reference Centers for Neuromuscular Disorders (CSURs). CSUR networking and dissemination facilitated development of a collaborative care network for TK2d disease, wherein participants share information and protocols to request approval from the Ministry of Health to initiate nucleoside therapy. Data have recently been collected in

Published
2021

9. Intermittent administration of inhaled tobramycin in patients with cystic fibrosis

Author

Ramsey, Bonnie W., Pepe, Margaret S., Quan, Joanne M., Otto, Kelly L., Montgomery, A. Bruce, Williams-Warren, Judy, Vasiljev-K, Michael, Borowitz, Drucy, Bowman, C. Michael, Marshall, Bruce C., Marshall, Susan, and Smith, Arnold L.

Subjects
Tobramycin -- Evaluation, Cystic fibrosis -- Drug therapy
Abstract

Inhaled tobramycin may improve lung function in cystic fibrosis patients. Researchers randomly assigned 520 cystic fibrosis patients to inhale tobramycin or a placebo twice a day for four weeks. The patients alternated between inhalations of placebo or tobramycin for 24 weeks total. Tobramycin improved lung function, reduced the rate of infection with Pseudomonas aeruginosa, and led to lower hospitalization rates. The drug caused few side effects. Intermittent treatment may prevent Pseudomonas aeruginosa from becoming resistant to the drug.

Published
1999

16. Evolution of MS lesions to black holes under DNA vaccine treatment

Author

Papadopoulou, Athina, von Felten, Stefanie, Traud, Stefan, Rahman, Amena, Quan, Joanne, King, Robert, Garren, Hideki, Steinman, Lawrence, Cutter, Gary, Kappos, Ludwig, Radue, Ernst, Papadopoulou, Athina, von Felten, Stefanie, Traud, Stefan, Rahman, Amena, Quan, Joanne, King, Robert, Garren, Hideki, Steinman, Lawrence, Cutter, Gary, Kappos, Ludwig, and Radue, Ernst

Abstract

Persistent black holes (PBH) are associated with axonal loss and disability progression in multiple sclerosis (MS). The objective of this work was to determine if BHT-3009, a DNA plasmid-encoding myelin basic protein (MBP), reduces the risk of new lesions becoming PBH, compared to placebo, and to test if pre-treatment serum anti-MBP antibody levels impact on the effect of BHT-3009 treatment. In this retrospective, blinded MRI study, we reviewed MRI scans of 155 MS patients from a double-blind, randomized, phase II trial with three treatment arms (placebo, 0.5 and 1.5mg BHT-3009). New lesions at weeks 8 and 16 were tracked at week 48 and those appearing as T1-hypointense were classified as PBH. A subset of 46 patients with available pre-treatment serum anti-MBP IgM levels were analyzed separately. Overall, there was no impact of treatment on the risk for PBH. However, there was a significant interaction between anti-MBP antibodies and treatment effect: patients receiving 0.5mg BHT-3009 showed a reduced risk of PBH with higher antibody levels compared to placebo (p<0.01). Although we found no overall reduction of the risk for PBH in treated patients, there may be an effect of low-dose BHT-3009, depending on the patients' pre-treatment immune responses

Published
2018

20. Cholera in Louisiana: widening spectrum of seafood vehicles

Author

Lowry, Philip W., Pavia, Andrew T., McFarland, Louise M., Peltier, Barbara H., Barrett, Timothy J., Bradford, Henry B., Quan, Joanne M., Lynch, Jeanne, Mathison, Joyce B., Gunn, Robert A., and Blake, Paul A.

Subjects
Louisiana -- Health aspects, Cholera -- Demographic aspects, Seafood -- Contamination, Health
Abstract

* The largest cholera outbreak in the United States in over a century occurred in Louisiana from August through October 1986. Eighteen persons in 12 family clusters had stool culture or serologic evidence of infection with toxigenic Vibrio cholerae 0-group 1. Thirteen of these persons had severe diarrhea, and 4 required intensive care unit treatment. Although all 18 survived, 1 96-year-old woman with suspected cholera died shortly after hospital admission. A case-control study showed that case-patients were more likely than neighborhood control subjects to have eaten cooked crabs or cooked or raw shrimp during the week before illness. Case-patients who ate crabs were more likely than control subjects who ate crabs to have undercooked and mishandled the crabs after cooking. A third vehicle from the Gulf waters, raw oysters, caused V cholerae 01 infection in two persons residing in Florida and Georgia. All three seafood vehicles came from multiple sources. Stool isolates from the Louisiana case-patients were genetically identical to other North American strains isolated since 1973, but differ from African and Asian isolates. While crabs are the most important vehicle for V cholerae 01 infection in the United States, shrimp and oysters from the Gulf coast can also be vehicles of transmission. A persisting reservoir of V cholerae 01 along the Gulf coast may continue to cause sporadic cases and outbreaks of cholera in Gulf states and in states importing Gulf seafood. (Arch Intern Med. 1989;149:2079-2084)

Published
1989

21. A two-year randomized, placebo-controlled trial of dornase alfa in young patients with cystic fibrosis with mild lung function abnormalities

Author

UCL - MD/MINT - Département de médecine interne, UCL - (SLuc) Service de pédiatrie générale, UCL - (SLuc) Centre de l'allergie, Quan, Joanne M, Tiddens, Harm A, Sy, Judy P, McKenzie, Sheila G, Montgomery, Mark D, Robinson, Philip J, Wohl, Mary Ellen, Konstan, Michael W, Pulmozyme Early Intervention Trial Study Group, Lebecque, Patrick, UCL - MD/MINT - Département de médecine interne, UCL - (SLuc) Service de pédiatrie générale, UCL - (SLuc) Centre de l'allergie, Quan, Joanne M, Tiddens, Harm A, Sy, Judy P, McKenzie, Sheila G, Montgomery, Mark D, Robinson, Philip J, Wohl, Mary Ellen, Konstan, Michael W, Pulmozyme Early Intervention Trial Study Group, and Lebecque, Patrick

Abstract

OBJECTIVE: Our objective was to determine whether long-term treatment of young patients with cystic fibrosis (CF) with dornase alfa maintains lung function and reduces respiratory tract exacerbations. STUDY DESIGN: This was a 96-week, randomized, double-blind, placebo-controlled trial involving 49 CF centers. Inclusion criteria were age 6 to 10 years and forced vital capacity > or = 85% predicted. Patients were excluded for hospitalization for complications of CF within 2 months and use of dornase alfa within 6 months. Patients were treated with dornase alfa 2.5 mg or placebo once daily with a jet nebulizer and a compressor. RESULTS: Patients were randomized, 239 to dornase alfa and 235 to placebo. At baseline the mean age was 8.4 years, the mean forced expiratory volume in 1 second 95% predicted, the mean forced expiratory flow, midexpiratory phase 85% predicted, and the mean forced vital capacity 102% predicted. At 96 weeks the treatment benefit for dornase alfa compared with placebo in percent predicted (mean +/- SE) was 3.2 +/- 1.2 for forced expiratory volume in 1 second (P =.006), 7.9 +/- 2.3 for forced expiratory flow between 25% and 75% of vital capacity (P =.0008), and 0.7 +/- 1.0 for forced vital capacity (P =.51). The risk of respiratory tract exacerbation was reduced by 34% in patients who received dornase alfa (relative risk 0.66, P =.048). There was no statistically significant difference between the groups in changes in weight-for-age percentile. Adverse event profiles for the treatment groups were similar. CONCLUSIONS: Treatment of young patients with CF with dornase alfa maintains lung function and reduces the risk of exacerbations over a 96-week period.

Published
2001

27. Evolution of MS lesions to black holes under DNA vaccine treatment

Author

Papadopoulou, Athina, von Felten, Stefanie, Traud, Stefan, Rahman, Amena, Quan, Joanne, King, Robert, Garren, Hideki, Steinman, Lawrence, Cutter, Gary, Kappos, Ludwig, Radue, Ernst, Papadopoulou, Athina, von Felten, Stefanie, Traud, Stefan, Rahman, Amena, Quan, Joanne, King, Robert, Garren, Hideki, Steinman, Lawrence, Cutter, Gary, Kappos, Ludwig, and Radue, Ernst

Abstract

Persistent black holes (PBH) are associated with axonal loss and disability progression in multiple sclerosis (MS). The objective of this work was to determine if BHT-3009, a DNA plasmid-encoding myelin basic protein (MBP), reduces the risk of new lesions becoming PBH, compared to placebo, and to test if pre-treatment serum anti-MBP antibody levels impact on the effect of BHT-3009 treatment. In this retrospective, blinded MRI study, we reviewed MRI scans of 155 MS patients from a double-blind, randomized, phase II trial with three treatment arms (placebo, 0.5 and 1.5mg BHT-3009). New lesions at weeks 8 and 16 were tracked at week 48 and those appearing as T1-hypointense were classified as PBH. A subset of 46 patients with available pre-treatment serum anti-MBP IgM levels were analyzed separately. Overall, there was no impact of treatment on the risk for PBH. However, there was a significant interaction between anti-MBP antibodies and treatment effect: patients receiving 0.5mg BHT-3009 showed a reduced risk of PBH with higher antibody levels compared to placebo (p<0.01). Although we found no overall reduction of the risk for PBH in treated patients, there may be an effect of low-dose BHT-3009, depending on the patients' pre-treatment immune responses

28. Plasmid-Encoded Proinsulin Preserves C-Peptide While Specifically Reducing Proinsulin-Specific CD8+T Cells in Type 1 Diabetes

Author

Roep, Bart O., Solvason, Nanette, Gottlieb, Peter A., Abreu, Joana R. F., Harrison, Leonard C., Eisenbarth, George S., Yu, Liping, Leviten, Michael, Hagopian, William A., Buse, John B., von Herrath, Matthias, Quan, Joanne, King, Robert S., Robinson, William H., Utz, Paul J., Garren, Hideki, and Steinman, Lawrence

Abstract

A plasmid encoding proinsulin reduces the frequency of CD8+T cells reactive to proinsulin while preserving C-peptide.

Published
2013
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29. Plasmid-encoded proinsulin preserves C-peptide while specifically reducing proinsulin-specific CD8⁺ T cells in type 1 diabetes.

Author

Roep BO, Solvason N, Gottlieb PA, Abreu JRF, Harrison LC, Eisenbarth GS, Yu L, Leviten M, Hagopian WA, Buse JB, von Herrath M, Quan J, King RS, Robinson WH, Utz PJ, Garren H, and Steinman L

Subjects
Adult, Enzyme-Linked Immunosorbent Assay, Female, Humans, Male, Proinsulin genetics, C-Peptide metabolism, CD8-Positive T-Lymphocytes microbiology, Diabetes Mellitus, Type 1 immunology, Diabetes Mellitus, Type 1 therapy, Plasmids genetics, Proinsulin metabolism
Abstract

In type 1 diabetes (T1D), there is an intense inflammatory response that destroys the β cells in the pancreatic islets of Langerhans, the site where insulin is produced and released. A therapy for T1D that targets the specific autoimmune response in this disease while leaving the remainder of the immune system intact, has long been sought. Proinsulin is a major target of the adaptive immune response in T1D. We hypothesized that an engineered DNA plasmid encoding proinsulin (BHT-3021) would preserve β cell function in T1D patients through reduction of insulin-specific CD8⁺ T cells. We studied 80 subjects over 18 years of age who were diagnosed with T1D within the past 5 years. Subjects were randomized 2:1 to receive intramuscular injections of BHT-3021 or BHT-placebo, weekly for 12 weeks, and then monitored for safety and immune responses in a blinded fashion. Four dose levels of BHT-3021 were evaluated: 0.3, 1.0, 3.0, and 6.0 mg. C-peptide was used both as an exploratory efficacy measure and as a safety measure. Islet-specific CD8⁺ T cell frequencies were assessed with multimers of monomeric human leukocyte antigen class I molecules loaded with peptides from pancreatic and unrelated antigens. No serious adverse events related to BHT-3021 were observed. C-peptide levels improved relative to placebo at all doses, at 1 mg at the 15-week time point (+19.5% BHT-3021 versus -8.8% BHT-placebo, P < 0.026). Proinsulin-reactive CD8⁺ T cells, but not T cells against unrelated islet or foreign molecules, declined in the BHT-3021 arm (P < 0.006). No significant changes were noted in interferon-γ, interleukin-4 (IL-4), or IL-10 production in CD4 T cells. Thus, we demonstrate that a plasmid encoding proinsulin reduces the frequency of CD8⁺ T cells reactive to proinsulin while preserving C-peptide over the course of dosing.

Published
2013
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