Advertisement

Topics

The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study

2014-08-27 03:54:47 | BioPortfolio

Summary

This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC). PTC causes symptoms and signs of isolated elevated blood pressure in the cranium, or covering of the brain. The disorder can lead to significant, negative effects on the visual system. Increased pressure of the cerebrospinal fluid, that is, fluid around the brain, is a factor, but the cause of the disorder is not clear. There has been documentation of clustering of PTC within families. It suggests that potential genetic polymorphisms-abilities to take on different forms-may become evident after exposure to conditions known to trigger PTC.

Thrombosis comes about by interactions between genetic and environmental or acquired factors, or both, resulting in a blood clot at a specific time and location. Because the disease occurs in episodes, the interaction of the genetic and nongenetic risk factors is important. Cystinosis is a recessive disorder caused by deposits of cystine within the lysosomes of cells-that is, sac-like cell parts that contain various enzymes. Involvement of the kidneys remains the primary characteristic, eventually leading to renal failure. Of all of the risk factors that make it easier for blood clotting, a high level of a substance called homocysteine is of particular interest. Too much homocysteine in blood plasma is a common finding in patients with kidney failure, and it has been recently identified as an independent risk factor for diseases of the blood vessels.

Participants of all ages who meet the Dandy criteria for PTC may be eligible for this study. Pregnant women will be excluded. There will also be a control group of nephropathic cystinosis patients who do not have PTC.

Participants will be asked to undergo the following tests and procedures:

- Medical history.

- Physical examination, to evaluate the eye and nervous systems.

- Collection of blood for DNA and other tests.

- Collection of cerebrospinal fluid, through a procedure called lumbar puncture or spinal tap.

The evaluation of patients will generally last 3 to 4 days. For the collection of cerebrospinal fluid, the patient's skin on the back will be numbed with a local anesthetic. A special needle will be inserted into the back, and a small amount of the fluid will be drawn through the needle. There will be pain for a minute, although there can be a headache lasting 24 hours. Also, there may be bruising, local pain, bleeding, or infection where the needle enters. Patients may also have a magnetic resonance imaging scan of their head. During the MRI scan, patients will lie still on a table that slides in and out of a metal cylinder surrounded by a strong magnetic field. Patients will be able to communicate with the MRI staff at all times and may ask to be moved out of the machine at any time.

Description

During the follow-up of cystinosis patients under protocol #78-HG-0093 "Use of Cysteamine in the Treatment of Cystinosis", we found that 6 of our NIH patients developed papilledema and were diagnosed with pseudotumor cerebri (PTC), whose occurrence has not been previously reported in cystinosis. The goal of this protocol is to identify the role of thrombosis susceptibility in the development of PTC in nephropathic cystinosis patients in view of our recent findings regarding genetic susceptibility to thrombosis in PTC in general. We propose a case-control study. A total of 9 nephropathic cystinosis patients who developed PTC and 9 control nephropathic cystinosis patients without PTC will be screened based upon a thrombosis susceptibility screening panel, including total homocysteine, protein C and S, antithrombin III, fibrinogen, Factor VIII, Factor IX, Factor XI levels, testing for PT, PTT, activated protein C resistance, antiphospholipid antibodies (ACA panel and Lupus AC) and screening for FV Leiden mutation, FV G1628A polymorphism, FV R2 allele, Prothrombin 20210 mutation and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism in patients with severe homocysteinemia (greater than or equal to 100 micro mol/l).

We will compare the prevalence of the factors that lead to thrombosis susceptibility in the cases and controls.

Study Design

N/A

Conditions

Pseudotumor Cerebri

Location

National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda
Maryland
United States
20892

Status

Completed

Source

National Institutes of Health Clinical Center (CC)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:54:47-0400

Clinical Trials [6 Associated Clinical Trials listed on BioPortfolio]

Multifocal Chromatic Pupilloperimetry in Patients With Pseudotumor Cerebri and Healthy Subjects.

PTC(Pseudotumor cerebri) patients may develop increased Intracranial pressure (ICP) that can produces increased pressure around the distal optic nerve,which is likely followed by venule co...

Operative Procedures vs. Endovascular Neurosurgery for Untreated Pseudotumor Trial

Pseudotumor cerebri, also called idiopathic intracranial hypertension (IIH), is characterized by elevated intracranial pressure, headache, and if severe, vision loss. IIH is difficult to t...

Idiopathic Intracranial Hypertension Treatment Trial

Idiopathic intracranial hypertension (IIH), also called pseudotumor cerebri, is a disorder of elevated intracranial pressure of unknown cause [Corbett, et al., 1982; Wall, et al., 1991]. I...

High/Low Dose Vit A in Diarrhea/ALRI in Severe PEM

Vitamin A deficiency is an important health problem globally including Bangladesh. The problem is greater among under-five children, particularly in malnourished. Vitamin A supplementation...

MRI Perfusion Curves Typology and Orbital Tumors (PERFORM)

Orbital masses develop at the expense of the orbital structures lacrimal glands, oculomotor muscles, optic nerve, meningeal spaces, peripheral nerves, bone wall, orbital fat, lymphoid stru...

PubMed Articles [20 Associated PubMed Articles listed on BioPortfolio]

Pseudotumor cerebri syndrome in a pregnant woman with systemic lupus erythematous.

Systemic lupus erythematous is a chronic multi-systemic autoimmune disease that affects multiple organ systems, including the central nervous system. Pseudotumor cerebri is a disorder associated with ...

Pseudotumor cerebri in kaposiform lymphangiomatosis: a case report and pathogenetic hypothesis.

A 4-year-old boy with kaposiform lymphangiomatosis (KLA) developed progressive headaches and papilloedema and was diagnosed with pseudotumor cerebri initially treated with acetazolamide. Clinical dete...

Clinical and Prognostic Significance of Cerebrospinal Fluid Opening and Closing Pressures in Pediatric Pseudotumor Cerebri Syndrome.

The purpose of this study was to determine the prognostic utility of closing pressure and volume of cerebrospinal fluid removed with respect to papilledema resolution and headache improvement in pedia...

Spinal Epidural Inflammatory Pseudotumor: A Case Report And Review Of Literature.

Inflammatory pseudotumor is a histologically proven benign tumor like lesion of unknown etiopathogenesis. It is less commonly found in central nervous system and least common in spinal canal. Among th...

Association Between Pseudotumor Formation and Patient Factors in Metal-on-Metal Total Hip Arthroplasty Population.

Pseudotumor formation from metal-on-metal (MoM) hip implants is associated with implant revision. The relationship between pseudotumor type and patient outcomes is unknown.

Medical and Biotech [MESH] Definitions

Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders.

A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS).

Ventral portion of the mesencephalon including the MIDBRAIN TEGMENTUM; CRUS CEREBRI; and the PRETECTUM. It does not include tectum mesencephali and TROCHLEAR NERVE.

Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR.

A slow-growing benign pseudotumor in which plasma cells greatly outnumber the inflammatory cells.

More From BioPortfolio on "The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Alzheimer's Disease
Of all the types of Dementia, Alzheimer's disease is the most common, affecting around 465,000 people in the UK. Neurons in the brain die, becuase  'plaques' and 'tangles' (mis-folded proteins) form in the brain. People with Al...

Cardiology
Cardiology is a specialty of internal medicine.  Cardiac electrophysiology : Study of the electrical properties and conduction diseases of the heart. Echocardiography : The use of ultrasound to study the mechanical function/physics of the h...


Searches Linking to this Trial