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Influences of Maternal Diabetes on Fetal Heart Development :

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High Blood Sugar during pregnancy is related with congenital heart defects, which is one of the most Rare Cardiac Disorder. Congenital heart defects or diseases are the complications with the heart’s structure that are available during childbirth. They might change the normal flow of blood through the heart. These are the most widely recognized kind of birth defect. There are various types of congenital heart defects. The most well-known defects involve the inside walls of the heart, the valves of the heart, or the large blood vessels that carry blood to and from the heart. Particular defects require no treatment, but some require treatment soon after birth. Because analysis and treatment of congenital heart defects has developed, more babies are surviving and now many adults are living with congenital heart defects.           Congenital heart disease is the (CHD) consequence of a complex relations between genetic and non-genetic, or "environmental factors working on the fetus. Th…

Rare Diseases of Genitourinary System

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Chronic Kidney Disease

Chronic Kidney Disease is a Rare Diseases of Genitourinary System, & type of slow and long term condition that damage kidneys and decrease their ability to keep healthy. It is also called as chronic renal failure or chronic kidney failure. It is a common condition often associated with getting older, although it’s more common in black people of south Asian origin.  The disease is called “chronic” because the damage of kidney happens slowly over a long period of time & also this damage can cause wastes to build up in body, which also can cause other health problems.
Symptoms
Signs and symptoms of chronic kidney disease grow over time if kidney damage progresses slowly. Signs and symptoms of this disease may include, ·Sleep problems·Decreased Mental Sharpness·Swelling of feet and ankels·Loss of appetite·Chest pain,if fluid builds up nearby the lining of the heart·Shortness of breath,if fluids builds up in the lungs·Fatigue and Weakness·Vomiting·High blood pres…

Rare Pulmonary Diseases

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Idiopathic Pulmonary Fibrosis (IPF)
The word “Idiopathic” refers to “of unknown cause” so idiopathic pulmonary fibrosis is one of a Rare Pulmonary Diseases, fibrosis of the lungs without known cause. It is a syndrome of radiologic, pathologic and clinical features of advanced interstitial pulmonary fibrosis and respiratory failure without known cause. It is associated with a histological pattern of usual interstitial pneumonia. It mostly affects middle- aged and older adults and there is no cure. The progress of disease varies from person to person.
Causes The main Cause of Idiopathic Pulmonary Fibrosis is when people are exposed to something in their environment, for example, certain medicines, or an infection. Sometimes, it runs in family. Followings are the causes of IPF, ·Smoke Cigarettes ·Breathe in wood or metal dust at work or at home ·Have acid reflux diseases ·Viral Infections
Symptoms
Followings are the symptoms of IPF that tend to develop gradually and get slowly worse over time, ·Sho…

Myelofibrosis Drug can awaken ‘dormant’ lymphomas in the bone marrow

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Myelofibrosis Drug can awaken ‘dormant’ lymphomas in the bone marrow
Myelofibrosis, a Rare Haematological Diseases of the haematopoietic cells of the bone marrow. It disrupts body's normal production of blood cells. This result an extensive damaging in bone marrow, leading to severe anemia, weakness, fatigue and often an enlarged spleen. It is also an uncommon type of chronic leukemia — a cancer that affects the blood-formingtissues in the body. Myelofibrosis belongs to a group of diseases called myeloproliferative disorders.
Symptoms Myelofibrosis ordinarily develops gradually. In its beginning times, numerous individuals don't experience signs or symptoms. As interruption of ordinary blood cell production increases, signs and symptoms may include: ·Feeling tired, weak or short of breath, generally because of anemia ·Pain or plumpness under your ribs on the left side, due to an expanded spleen ·Easy bruising ·Easy bleeding ·Excessive sweating throughout sleep

Rare Paediatric Diseases

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Hutchinson-Gilford Progeria Syndrome 






One of the most Rare Paediatric disease, Hutchinson-Gilford Progeria syndrome is a rare fatal genetic progressive that causes a person to age prematurely. Children with progeria seem healthy, but by the age of 2 years, they look as if they have turned out to be old too fast. It is additionally a Classic “accelerated aging disease”, not caused by defective DNA repair. It is affected by a tiny, point mutation in a single gene, identified as Lamin A(LMNA). The signs closely look like aging and include wrinkles, hair loss and delayed growth. As the individual ages, progeria turns out to be more severe with an average life expectancy of 12 years.
Cause
Progeria is caused by mutation in the LMNA gene. The LMNA gene provides information for production a protein named lamin A. This protein plays an vital role in defining the shape of the nucleus within cells. It is an critical scaffolding (supporting) element of the nuclear envelope, which is the membrane th…

Rare Diseases of Endocrine System

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Gigantism



Gigantism also called gigantism obtained from a Greek word gigas, is a Rare Endocrine Diseases characterized by excessive growth hormone which accelerates the growth of muscle, bones and connective tissue in childhood or youth before the end of puberty. It is always the consequence of a growth hormone secreting pituitary tumour. When left untreated or uncontrolled, some individuals suffering from gigantism have grown in excess of eight feet (2.4 m) tall. The most well-known example is that of Robert Wadlow, the tallest person in history.
Cause
Most common reason of gigantism is Pituitary gland tumor. The pea sized pituitary gland is located at the base of the brain; it makes hormones that control body temperature, metabolism growth, sexual development and urine production. Some other cause of gigantism is: ·McCune-Albright disease is a disorder that causes unusual growth of bone tissues, gland irregularities and patches of light-brown skin. ·Carney complex is a hereditary conditi…