Chase The Cure

This matters as we learn about Cyclodextrin as a treatment option and effective crossing of the blood-brain barrier.

Ayab Ommaya-  Ayub Khan Ommaya, MD, ScD (h.c.), FRCS, FACS was a Pakistani neurosurgeon and the inventor of the Ommaya reservoir. The reservoir is used to provide chemotherapy directly to the tumor site for brain tumors. Ommaya was also a leading expert in traumatic brain injuries . (Wiki)

Ommaya Reservior (Port)-

An Ommaya reservoir is an intraventricular catheter system that can be used for the aspiration of cerebrospinal fluid or for the delivery of drugs (  like chemo) into the cerebrospinal fluid. It consists of a catheter in one lateral ventricle attached to a reservoir implanted under the scalp. It is used to treat brain tumors or leptomeningeal disease by intrathecal drug administration.

(Wiki) 

Researchers and Doctors are betting its the key to effectively delivering Cyclodextrin into the brains of NPC patients!

Biomarker-a biomarker is a term often used to refer to a protein measured in blood whose concentration reflects the severity or presence of some disease state. More generally a biomarker is anything that can be used as an indicator of a particular disease state or some other physiological state of an organism. (wiki)

Blood-Brain Barrier-

The blood–brain barrier (BBB) is a separation of circulating blood and the brain extracellular fluid (BECF) in the central nervous system (CNS). It occurs along all capillaries and consists of tight junctions around the capillaries that do not exist in normal circulation. Endothelial cells restrict the diffusion of microscopic objects (e.g. bacteria) and large or hydrophilic molecules into the cerebrospinal fluid (CSF), while allowing the diffusion of small hydrophobic molecules (O₂, CO₂, hormones). Cells of the barrier actively transport metabolic products such as glucose across the barrier with specific proteins. This barrier also includes a thick basement membrane and astrocytic endfeet. (wiki)

 Chromosome- A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. (Wiki)

Endothelial Cells-

The endothelium is the thin layer of cells that lines the interior surface of blood vessels, forming an interface between circulating blood in the lumen and the rest of the vessel wall. These cells are called endothelial cells. Endothelial cells line the entire circulatory system, from the heart to the smallest capillary. These cells reduce turbulence of the flow of blood, allowing the fluid to be pumped farther.   the endothelium acts as a selective barrier between the vessel lumen and surrounding tissue, controlling the passage of materials and the transit of white blood cells into and out of the bloodstream. Excessive or prolonged increases in permeability of the endothelial monolayer, as in cases of chronic inflammation, may lead to tissue edema/swelling

Gene-  A gene is a molecular unit of heredity. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function. Living beings depend on genes, as they specify all proteins and functional RNA chains. Genes hold the information to build and maintain an organism's cells and pass genetic traits to offspring. (Wiki)

intraventricular - within the system of ventricles in the brain

Cerebrospinal fluid (CSF), Liquor cerebrospinalis, is a clear, colorless, salty bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord.  In essence, the brain "floats" in it.

The CSF occupies the space between the arachnoid mater (the middle layer of the brain cover, meninges), and the pia mater (the layer of the meninges closest to the brain). It constitutes the content of all intra-cerebral (inside the brain, cerebrum) ventricles, cisterns, and sulci (singular sulcus), as well as the central canal of the spinal cord.

It acts as a "cushion" or buffer for the cortex, providing a basic mechanical and immunological protection to the brain inside the skull.

Lysosome- Lysosomes are cellular organelles that contain acid hydrolase enzymes to break down waste materials and cellular debris.  Lysosomes digest excess or worn-out organelles, food particles, and engulfed viruses or bacteria. Lysosomes fuse with vacuoles and dispense their enzymes into the vacuoles, digesting their contents. They are created by the addition of hydrolytic enzymes to early endosomes from the Golgi apparatus. The name lysosome derives from the Greek words lysis, to separate, and soma, body. They are frequently nicknamed "suicide-bags" or "suicide-sacs" by cell biologists due to their role in autolysis. (wiki)

Lysosomal Storage Disease -

Lysosomal storage diseases (LSDs;) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells ( the lysosome ) malfunctions. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or mucopolysaccharides . Individually, LSDs occur with incidences of less than 1:100,000; however, as a group the incidence is about 1:5,000 - 1:10,000. Most of these disorders are autosomal recessively inherited.

The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell.

Like other genetic diseases, people inherit lysosomal storage diseases from their parents. Although each disorder results from different gene mutations that translate into a deficiency in enzyme activity, they all share a common biochemical characteristic – all lysosomal disorders originate from an abnormal accumulation of substances inside the lysosome.

Lysosomal storage diseases affect mostly children and they often die at a young and unpredictable age, many within a few months or years of birth. Many other children die of this disease following years of suffering from various symptoms of their particular disorder.  (Wiki)

THIS IS WHY RESEARCH IS ESSENTIAL!!! THIS IS WHY FUNDING FOR RESEARCH IS ESSENTIAL!!!

IN NPC Cholesterol and other lipids are accumulating in cells beucase the instructions given to the lysosomes are damaged.  Chromosome 18 has a mutuation that interrupts the message to them. 

Alex Baldwin narrates a great explanation here:  http://www.youtube.com/watch?v=61DRmSFgSFA&feature=player_detailpage

NJ Tube (Nasal Gastric Jejunum Tube)

A soft tube inserted through the nose and down the throat, past the stomach and into the second part of the small intestine. Formula can be feed continuously by pump or using a gravity method. These tubes are excellent for patients at risk of aspiration pneumonia or with limited space in the stomach due to organ enlargement, such as splenamegaly. Patients can eat by mouth as usual while on an NJ tube. NJ or NG tubes are typically used short term to supplement caloric needs or for enteral feeding during an illness. An NG tube stops in the stomach and does not pass into the small intestine.

Pancytopenia is a medical condition in which there is a reduction in the number of red and white blood cells, as well as platelets.

• anemia: hemoglobin < 13.5 g/dL (male) or 12 g/dL (female).
• leukopenia: total white cell count < 4.0 x 10⁹/L. Decrease in all types of white blood cells (revealed by doing a differential count).
• thrombocytopenia: platelet count < 150×10⁹/L.

The disease is marked by an inappropriate and ineffective T cell activation that leads to an increased hemophagocytic activity. The T cell activated macrophages engulf erythrocytes, leukocytes, platelets, as well as their progenitor cells. Such finding is common in the syndrome, which is also referred to as hemophagocytic lymphohistiocytosis (HLH). Along with pancytopenia, HLH is characterized by fever, splenomegaly, and hemophagocytosis in bone marrow, liver, or lymph nodes.

Iatrogenic causes of pancytopenia include chemotherapy for malignancies if the drug or drugs used cause bone marrow suppression. Rarely, drugs (antibiotics, blood pressure medication, heart medication) can cause pancytopenia. The antibiotic Linezolid can cause pancytopenia in some individuals.

Rarely, pancytopenia may have other causes, such as mononucleosis, or other viral diseases. Hemoglobinuria can also cause pancytopenia. Increasingly, HIV is itself a cause for pancytopenia. (Wiki)