Health and Fitness

Lipid Storage Diseases Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.  Lipids are important parts of the membranes found within and between each cell and in the myelin sheath that coast and protects the nerves.  Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.  Lipid storage diseases are inherited from one or both parents who carry a defective gene.   Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include ataxia, eye paralysis, brain degeneration, seizures, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, loss of muscle tone, hypersensitivity to touch, pain in the arms and legs, and...

Lion Face Syndrome Overview Lion Face Syndrome, also known as Lionitis or Leontiasis Ossea, is a rare medical condition that causes abnormal bone growth in the skull, particularly in the facial area. This results in a disfigured appearance that resembles a lion's face. The primary impact of Lion Face Syndrome on health is the physical and psychological challenges faced by individuals due to the noticeable changes in facial structure. This condition can significantly affect a person's self-esteem and social interactions, leading to emotional distress and mental health issues. What are the Symptoms of Lion Face Syndrome Lion Face Syndrome, also known as Moebius syndrome, is a rare neurological condition. It affects facial muscles, causing various symptoms. Patients may experience challenges with facial expressions, eye movements, and speech. These symptoms can have a significant impact on social interactions and quality of life. Early diagnosis and appropriate management are esse...

Intestinal cancer Overview Intestinal cancer refers to malignancies that develop in the small or large intestine, impacting digestion and nutrient absorption. Although it is less common than other gastrointestinal cancers, it can be life-threatening if not diagnosed and treated early. The cancer may originate in the intestines or spread from other organs. Understanding intestinal cancer's types, symptoms, causes, diagnostic methods, and treatment options is crucial for timely intervention and improved prognosis, as its incidence worldwide is increasing. Types of Intestinal Cancer Intestinal cancers are classified primarily based on their location and the cellular origin of cancerous tumor. some of the prominent types of intestinal cancer include: Small Intestinal Cancer This type is relatively rare and affects the small intestine, which includes the duodenum, jejunum, and ileum. The small bowel/ small intestine plays a key role in nutrient absorption, and tumors in this region can ...

  IGGR4 overview IgG4-related disease (IgG4-RD) is a chronic, fibro-inflammatory condition affecting multiple organs, characterized by the infiltration of IgG4-positive plasma cells, fibrosis, and elevated serum IgG4 levels. It can mimic tumors, infections, or other immune-mediated diseases, making diagnosis challenging.  Symptoms Fatigue: Persistent and unexplained tiredness. Weight Loss: Unexplained loss of weight, sometimes significant. Lymphadenopathy: Enlarged lymph nodes, often symmetrical and involving multiple areas like the neck, axillae, or mediastinum. Low-grade fever: A persistent, but not very high, fever.  Organ-Specific Symptoms: Pancreas : Abdominal pain, nausea, jaundice (if bile ducts are affected), or symptoms of pancreatic insufficiency (e.g., gas, diarrhea, weight loss).  Salivary and Lacrimal Glands: Dry eyes and dry mouth.  Bile Ducts: Jaundice, abdominal pain.  Kidneys: Flank pain, kidney dysfunction.  Lungs: Shortness of b...

Esophageal Atresia Overview What is esophageal atresia (EA)? Esophageal atresia is a birth defect (congenital malformation) that affects the way your baby’s esophagus develops. The esophagus is the swallowing tube that connects their mouth to their stomach. “Atresia” means that a passageway in the body is missing or closed. In esophageal atresia, the esophagus is closed at the bottom where it’s supposed to connect to your baby’s stomach. This makes it impossible for your baby to feed normally. Esophageal atresia comes in several different forms, some of which can cause additional complications for your baby. Up to 90% of babies with esophageal atresia also have another birth defect called a tracheoesophageal fistula. This means their esophagus connects to their trachea — their windpipe — instead of their stomach. This can cause them to inhale or choke on what they swallow. What are the different types of esophageal atresia? The different types of esophageal atresia (EA), with or withou...

  Hunter Syndrome Overview What is Hunter syndrome? Hunter syndrome is a rare genetic disorder in which your child’s body doesn’t properly break down (digest) certain sugar molecules. When these molecules build up in organs and tissues over time, they can cause damage that affects physical and mental development. Healthcare providers classify Hunter syndrome into severe and mild types. The severe type progresses faster and involves impaired intellectual abilities. In the most severe cases, children begin to experience problems with basic functioning between the ages of 6 and 8. The severe type occurs in about 60% of all cases. Hunter syndrome is one of a group of diseases called mucopolysaccharidoses. Another name for Hunter syndrome is mucopolysaccharidosis type II, or MPS II. Symptoms The signs and symptoms of Hunter syndrome typically begin to appear in children between the ages of 2 and 4. Hunter syndrome symptoms vary in severity and may include: Stiff joints. Thickening of fa...

Hurler Syndrome Overview Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS 1). It’s an autosomal recessive condition. MPS 1 is a condition where your body doesn't have enough enzymes to break down sugar molecules (glycosaminoglycans, formerly called mucopolysaccharides). The condition causes skeletal/joint abnormalities, distinct facial characteristics, issues with cognitive development, heart and lung (respiratory) problems and an enlarged liver and spleen. Hurler syndrome is a lysosomal storage condition. When your body is unable to break down molecules normally, they accumulate in lysosomes. Lysosomes are the parts of your cell that control molecular waste management (the storage, recycling and digestion of molecules). When there’s too much toxic molecular buildup in your cells, the cells quickly die or don’t function properly, which causes symptoms of the condition. Life expectancy for children diagnosed with Hurler syndrome is short due to life-threa...