Using Heavy Water to Study Cell Dynamics in Parkinson's Disease
Parkinson's DiseaseHIV InfectionsThis pilot study will assess the feasibility of using heavy water as a safe 'tracer' for biomarker studies of diseases of the brain and spinal cord, that, together, are also called the central nervous system (CNS). Heavy water, also called deuterated water or D20, is the same as normal drinking water except the hydrogen atoms have been replaced by deuterium, a naturally occurring isotope of hydrogen. In particular, this study will use heavy water to define: 1) The rate of immune cell proliferation (growth) in the cerebrospinal fluid (CSF) compared to blood. This study will be examining a particular type of immune cell called T lymphocytes. 2) This study will also examine selected molecules generated by nerve cells of the CNS to understand their rate of secretion and turnover in healthy control participants, HIV-1-infected participants and participants with a non-HIV-related neurodegenerative disease such as Parkinson's disease (PD). This study will involve the administration of heavy water orally for either seven days, 12 days or six weeks. Measurements will be taken by lumbar puncture (LP, also known as a spinal tap). Blood (approximately five tablespoons per visit) will also be obtained at each of the lumbar puncture appointments. If this method can be used to establish the rates of immune cell turnover and the production rates of neuronal molecules using cerebrospinal fluid, it will provide unique data that is important to understand chronic neurodegenerative conditions, like PD, and to measure responses to targeted therapies. Hypothesis: D2O, administered orally, can be used to measure the proliferation rates of CSF T cells (and, eventually, of their major phenotypic subsets). D2O can be used to assess the turnover and production rates of CNS constituents that are normally or pathologically shed or secreted into the CSF, including (eventually): cargo molecules transported specifically in neurons in the CNS, such as chromogranin-A and -B, neuregulin-1 (specifically the extracellular secreted ectodomain of neuronal differentiation factor (NDF) isoform type α1, α2, β1, and the acetylcholine receptor inducing activity isoform (ARIA), secreted amyloid precursor protein (sAPP), alpha-synuclein; and APP metabolites amyloid beta (Aβ) 41 and 42.
The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally
Ataxia TelangiectasiaRationale: Forced spirometry maneuvers are not routinely performed in patients with Ataxia Telangiectasia (A-T), even though they suffer from respiratory illnesses. Objectives: To study the feasibility and validity of forced spirometry in A-T patients. Methods: Patients will perform spirometry during clinical visits. Parameters studied will be technical quality, relation to predicted values, age, pulmonary illness, body mass index, mutational status and mutation.
Correlation of Particulate Matter and Heme Oxygenase-1 Protein Activity in Asthmatic Children by...
AsthmaSamples of sputum from asthmatic children, between 5-17 years, will be collected during two years of the study period to perform tests Particle Size Distribution (PSD) and Shape Analysis (SA) of the particulate matter in the sputum and a biochemical reaction to evaluate the activity of Heme Oxygenase-1 protein in sputum cell supernatants. Each child will perform Pulmonary Function Testing (PFT) and Induced Sputum (IS) as a routine part of diagnosis of asthma. Parents will be asked to complete a questionnaire including questions on their child's respiratory symptoms in the last 12 months as well as socioeconomic factors. Parents will be asked to give informed written consent for their child's participation in the study.
Gonadal Toxicity in Women With Hodgkin Lymphoma
Hodgkin LymphomaThe Gruppo Italiano Studio Linfomi has been collecting data on patients with Hodgkin Lymphoma (HL) since 1988. This archive represents a homogeneous series of consecutive patients with HL. The very long follow up and the availability of clinical and treatment data make it feasible to perform a study on the gonadal toxicity related to treatment for HL.
Magnetic Resonance Imaging Follow-up on Temporomandibular Arthritis in Children With Juvenile Idiopathic...
Juvenile Idiopathic ArthritisChildren with juvenile idiopathic arthritis (JIA) suffer in up to 87% of the cases of arthritis of the temporomandibular joints (TMJs). Magnetic resonance imaging (MRI) is the only modality for the early diagnosis of TMJ involvement. Aim of the study is to compare symptoms and clinical findings with MRI and ultrasonography results and to describe the action of the current medication on the arthritis of the TMJs.
Magnetic Resonance Imaging (MRI) in Asymptomatic Patients With Juvenile Idiopathic Arthritis (JIA)...
Juvenile Idiopathic ArthritisJuvenile idiopathic arthritis (JIA) may progress asymptomatically leading to joint destruction despite treatment. The aim of the observational study is to describe patients with silent arthritis comparing symptoms, clinical findings with results of ultrasound and magnetic resonance imaging (MRI).
Analysis of Immunological Reactions to Foods in Birch Pollen-Allergic Patients
Allergic RhinitisFood AllergyA high number of birch pollen-allergic individuals develop hypersensitivity reactions to certain foods, e.g. apples. This food allergy is due to immunological cross-reactivity. Birch pollen-related foods contain proteins, e.g. Mal d 1 in apple, that are structurally related with the major birch pollen allergen, Bet v 1. Hence IgE antibodies and T lymphocytes specific for Bet v 1 recognize these food proteins which results in activation of the immune system and, consequently, in clinical symptoms. In the present study the investigators intend to investigate if and how the consumption of birch pollen-related food allergens affects birch pollen allergy. In other words, the investigators are interested to analyse whether Bet v 1-related food allergens activate Bet v 1-specific memory cells and thus, contribute to the maintenance of the pollen allergy outside the pollen season. Data obtained in this study will help to clarify the immunological and clinical role of cross-reactivity between pollen and food allergies and will reveal whether avoidance of such foods should be recommended for the patients. Finally, novel approaches for diagnosis and therapy of pollen-related food allergens can be developed.
Confocal Microscopy and Lacrimal Gland in Sjogren's Syndrome
Primary Sjogren's SyndromeTraditional methodological clinical and instrumental diagnostics of the lacrimal gland for the study of glandular architecture and functions are limited and include analysis of tear constituents, evaluation of apparent diffusion coefficients in magnetic resonance imaging and histopathological evaluation of lacrimal gland biopsy specimens. Confocal microscopy is a new emerging technology which is useful as a supplementary diagnostic tool for in vivo assessment of anterior-segment disorders.The use of in vivo confocal microscopy in a comparative study of the microscopic morphology of the salivary/lacrimal glands have not been reported up to date. In this study, we employ laser scanning confocal microscopy to evaluate the morphological changes of the salivary/lacrimal glands in patients with primary Sjögren's syndrome and compare the results with those of healthy control subjects.
Etiology of Multiple Myeloma: A Case-Control Study
Multiple MyelomaObjectives: The overall objective of this project is to identify risk factors associated with the development of multiple myeloma (MM) by integrating epidemiologic, clinical and molecular information. We plan to invite MDACC patients with MM, as well as controls, to participate in this investigative case-control study. Controls will be selected from friends and spouses who accompany patients to the various MDACC clinics and will be matched to the cases on age (±5 years), gender, and ethnicity. We will obtain demographic, risk factor and clinical information along with a blood and buccal sample from all cases and controls. This study could have implications for prevention and subsequent reduction in the incidence of multiple myeloma. Collecting blood and buccal samples will allow us to study the role genetic susceptibility plays in MM risk. The specific aims are: To enroll and obtain, through self-administered questionnaires, risk factor information on all study participants to develop detailed demographic, epidemiologic, and behavioral profiles. This study will accrue 250 MM patients from MDACC and 250 healthy controls selected from friends and spouses who accompany patients to the MDACC clinics. Blood (25 ml) and buccal samples will be collected from all participants. To identify risk factors associated with MM by integrating epidemiological, clinical and molecular information using a case-control approach. To evaluate constitutional markers of genetic susceptibility as predictors of MM risk. Gene-environment interactions will be explored.
Mechanism(s)of Airflow Limitation in Moderate-severe Persistent Asthma
AsthmaThe purpose of this study is to evaluate the site and mechanisms responsible for expiratory airflow limitation in chronic, treated, non-smoking, stable asthmatics with moderate to severe persistent expiratory airflow obstruction. Treatment will include inhaled corticosteroids and long acting beta2agonists and long acting muscarinic antagonists. We are interested in determining whether the large and/or small airways are the predominant site of airflow limitation. We are also interested in determining whether intrinsic small airways obstruction and/or loss of lung elastic recoil is responsible for expiratory airflow limitation and to what extent may be attributed to loss of lung elastic recoil vs decreased airway conductance in peripheral airways. We are also interested to evaluate the role of varying doses of inhaled corticosteroids to suppress large and small airway inflammation using exhaled nitric oxide as surrogate markers of inflammation. For comparison purposes, spirometry and measurements of exhaled nitric oxide will also be obtained if possible during a naturally occurring exacerbation of asthma. High resolution thin section CT of the lung will also be obtained. Analysis will evaluate integrity of the lung parenchyma as to absence and or presence of emphysema and extent of emphysema using voxel quantification. We will also investigate optical coherence tomography to detect clinically unsuspected emphysema. We will also obtain autopsy material when available in asthmatics who expire. Will also measure serum periostin as a marker of inflammation by collaborating with Genetech in San Francisco.