Red blood cells are disc shaped cells that carry oxygen in the  blood. There are various disorders that can lead to an abnormal shape of these cells. The term acanthocytosis describes the presence of distorted red blood cells (acanthocytes) in the blood. The cells become denser and irregularly shaped with spiculated (sharp spur-like) protrusions. The normal shape of red blood cells are determined by certain proteins in its cell membrane. When there are certain defects or deficiencies of these proteins, abnormal shapes of the red blood cells are seen. However, these proteins are also common to other types of cells in the body like the nerve cells and brain tissue. This collectively leads to certain conditions marked by abnormalities of both the red blood cells and disturbances in brain function.

Neuroacanthocytosis Definition

Neuroacanthocytosis (NA) describes a range of neurological conditions that arise with inherited abnormalities in red blood cells. The disturbances of the nerves that are present with neuroacanthocytosis  affects movement and personality traits. Neuroacanthocytosis is diagnosed by the presence of characteristic star-shaped red blood cells at any stage of disease. Initial onset of the disease may occur either during infancy or adulthood. The neurological symptoms may not be evident at the outset. Overall the condition is found to be more prevalent among males.

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What is Down Syndrome?

Down syndrome, also known as Trisomy 21, is a genetic disorder resulting from possession of an extra copy of chromosome 21. It is named after Dr Langdon Down who first recognized and described the condition in 1866. The genetic origin of Down syndrome was identified much later by scientists in 1959. Individuals with this disorder suffer from varying degrees of learning impairment as well as having typical physical features such as a flat facial profile with upward slanting eyes, short neck, a single palmar crease, and various other recognizable characteristics.

continue reading Down Syndrome Babies, Facts, Pictures, Features and Diagnosis

The heart receives blood in its atria and pushes out blood from its ventricles. There are four such chambers in the heart – right and left atria (singular ~ atrium) and the right and left ventricles. The right side of the heart (right atrium and right ventricles) handles deoxygenated blood (blood that is low in oxygen). This is also known as the pulmonary circulation. The left side of the heart (left atrium and ventricle) handles the oxygenated blood (blood rich in oxygen) which is also referred to as the systemic circulation. The blood on either side is kept separate so that deoxygenated and oxygenated blood does not mix. A wall between the right and left side of the heart, known as the atrioventricular (AV) septum, ensures that blood stays in its respective side. However, if there is any abnormality during fetal heart development, this septum may be compromised.

continue reading Right-to-Left Heart Shunt (Birth Defect) Types and Symptoms

Types of Angioedema

Angioedema can be characterized as :

This is an immune reaction to an allergen. Symptoms may appear within the first 2 hours after exposure to the allergen and usually settle within 3 days. Urticaria is usually present but not always.

Acquired Angioedema

This type of angioedema is associated with certain types of autoimmune diseases, infections, malignant tumors and diseases causing increased lymphocyte populations. It tends to occur later in life, usually after the fourth decade, and may persist as long as the underlying disease is present (chronic in nature). Urticaria may be present.

Hereditary Angioedema

This is inherited type of angioedema and the symptoms usually present before the age of 20 years. It typically occurs in episodes, which can be quite severe and affect multiple systems simultaneously.

Drug Induced Angioedema

This is a non-allergenic type of angioedema and occurs within days or weeks (sometimes longer) after starting a certain type of medication. Urticaria is not present.

Idiopathic Angioedema

Symptoms are similar to acute allergic angioedema.

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Cystic Fibrosis (Mucoviscidosis)

Cystic fibrosis (mucoviscidosis) is a recessive genetic disorder in which viscous mucus is excreted from bronchial glands, pancreas, sweat and salivary glands. Cysts and fibrosis in the pancreas affect its enzyme excretion resulting in fat malabsorption and leading to mucous, fatty diarrhea or, sometimes, constipation. Excessive excretion of bronchial glands causes chronic respiratory infection. Diagnosis is by detecting increased concentration of salt in the sweat.

For affected infants, breastfeeding is recommended; a dietitian should advise about diet for other children. Supportive treatment is through antibiotics, mucus thinning drugs, enzyme and nutrient supplements. Affected persons can expect to live until their 30-40th year of age; a common cause of death is respiratory failure. If both parents carry the defective gene, 25% of children stand a chance of developing the disease, 50% of them will likely be carriers with one defective gene and no symptoms and 25%  of them will likely have no defective gene.

continue reading Diarrhea in Children With Rare Genetic Disorders – Treatment