Genetic Diseases Archives - Healthhype https://healthhype.com/category/genetic-diseases Current Health Articles on Symptoms, Diseases and Treatment Wed, 02 Apr 2025 11:34:08 +0000 en-US hourly 1 https://healthhype.com/wp-content/uploads/logoicon.png Genetic Diseases Archives - Healthhype https://healthhype.com/category/genetic-diseases 32 32 Down Syndrome Babies, Facts, Pictures, Features and Diagnosis https://healthhype.com/down-syndrome-babies-facts-pictures-features-and-diagnosis.html https://healthhype.com/down-syndrome-babies-facts-pictures-features-and-diagnosis.html#respond Sat, 06 Aug 2011 20:45:57 +0000 http://www.healthhype.com/?p=18284 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. The severity of symptoms in Down syndrome may vary from mild to severe. The condition is often associated with congenital heart disease, acute leukemia, and signs of premature aging. Down syndrome occurs in about 1 in 700 live births. The frequency of Down syndrome seems to rise with increasing maternal age. Screening for Down syndrome is now routinely offered in many developed countries. Genetic counseling is recommended for a person with a family history of Down syndrome who wishes to have a baby. Genetic Defects in Down Syndrome Within each nucleus of the human cell there are a set of 46 chromosomes, arranged in 23 pairs. [...]

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]]> https://healthhype.com/down-syndrome-babies-facts-pictures-features-and-diagnosis.html/feed 0 Right-to-Left Heart Shunt (Birth Defect) Types and Symptoms https://healthhype.com/right-to-left-heart-shunt-birth-defect-types-and-symptoms.html https://healthhype.com/right-to-left-heart-shunt-birth-defect-types-and-symptoms.html#respond Fri, 01 Jul 2011 22:20:48 +0000 http://www.healthhype.com/?p=17855 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. Overview of Cardiac Shunts A cardiac shunt is an abnormal communication between the pulmonary and systemic circulation due to a structural defect of the heart and/or great blood vessels. It is the most common type of congenital heart defect, which means that it develops during fetal life. The fetal heart initially forms [...]

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]]> https://healthhype.com/right-to-left-heart-shunt-birth-defect-types-and-symptoms.html/feed 0 Warning Signs Of A Dangerous Burst Appendix https://healthhype.com/warning-signs-of-a-dangerous-burst-appendix.html https://healthhype.com/warning-signs-of-a-dangerous-burst-appendix.html#respond Sun, 09 Jun 2013 23:09:25 +0000 http://www.healthhype.com/?p=24811 Appendicitis is a condition that can affect any person at any time. In fact it is one of the most common causes of abdominal pain and removal of the appendix is one of the more common abdominal surgeries performed in the United States. Appendicitis is often thought of as a condition of childhood but this is untrue. It affects teenagers and young adults more commonly. However, serious complications of appendicitis are more likely to occur in younger children. The main complications occur when the appendix bursts (ruptured/perforated appendix). It is important to understand some basic points about appendicitis. The vermiform appendix as it is more correctly known is a long pouch that extends from the cecum. Therefore the appendix is also known as cecal appendix. The cecum is the first part of the colon located at the lower right side of the abdomen. Appendicitis is a condition where the appendix is inflamed. It usually happens when the opening of the pouch becomes obstructed or if the appendix becomes infected. Appendicitis is treated by surgically removing it. Even if the appendix is found to be normal during surgery, it is still removed.  Non-surgical treatment is only considered when suitable facilities and [...]

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]]> https://healthhype.com/warning-signs-of-a-dangerous-burst-appendix.html/feed 0 Neuroacanthocytosis https://healthhype.com/neuroacanthocytosis.html https://healthhype.com/neuroacanthocytosis.html#respond Sun, 29 Jul 2012 19:47:54 +0000 http://www.healthhype.com/?p=22264 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 [...]

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]]> https://healthhype.com/neuroacanthocytosis.html/feed 0 Angioedema Causes and Types https://healthhype.com/angioedema-causes-and-types.html Thu, 13 May 2010 00:01:39 +0000 http://www.healthhype.com/?p=8730 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. Causes of Angioedema Each type of angioedema has key features and causes which differentiates it from other types. Acute Allergic Angioedema In this type of angioedema, the presence of an allergen (list [...]

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]]> Diarrhea in Children With Rare Genetic Disorders – Treatment https://healthhype.com/diarrhea-in-children-with-rare-genetic-disorders.html https://healthhype.com/diarrhea-in-children-with-rare-genetic-disorders.html#comments Fri, 19 Jun 2009 11:29:44 +0000 http://www.healthhype.com/?p=3235 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. Hirschsprung’s Disease or Megacolon Hirschsprung’s disease or megacolon is an inborn defect of the nerves within the colonic wall resulting in impaired colonic motility. In newborns, the disease is present as constipation; in older children diarrhea may predominate. Sometimes the disease appears only later in adulthood. Diagnosis is by X-ray [...]

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]]> https://healthhype.com/diarrhea-in-children-with-rare-genetic-disorders.html/feed 5 Rare Genetic Disorders: Hereditary Fructose Intolerance (HFI) https://healthhype.com/rare-genetic-disorders-hereditary-fructose-intolerance.html https://healthhype.com/rare-genetic-disorders-hereditary-fructose-intolerance.html#comments Tue, 17 Mar 2009 13:53:31 +0000 http://www.healthhype.com/?p=1338 What Is Hereditary Fructose Intolerance (HFI)? Hereditary fructose intolerance (HFI) is a rare genetic disease in which fructose cannot be properly metabolised in the body. Affected person suffers from a bad abdominal reaction (bloating, diarrhea, generalized malaise) after eating fructose-containing foods. HFI is an autosomal recessive disorder of fructose metabolism, due to a deficiency of fructose-1-phosphate aldolase – an enzyme that converts fructose into glucose in the liver. Incidence of HFI is estimated at 1 / 22-58,000 people (1). HFI should be differed from fructose malabsorption. Patophysiology of HFI Absorbed fructose is normally converted into fructose-1-phosphate, and further into glucose in the liver. In HFI, fructose-1-phosphate, due to lack of enzyme fructose-1-phosphate aldolase, cannot be converted into glucose, so it accumulates in liver, intestine, and kidneys, and inhibits glucose synthesis, thus causing hypoglycemia. Prolonged fructose ingestion in infants may cause hepatic or renal failure and death. Fructose-1,6-diphosphate deficiency is another form of fructose intolerance, which usually presents as neonatal hypoglycemia. Symptoms of HFI Infants have no symptoms until they try fructose containing food. Symptoms may vary from less to more severe in different individuals. Most commonly observed symptoms in HFI: Diarrhea Bloating, flatulence Abdominal pain, vomiting Symptoms of hypoglycemia: sugar craving, tremor, fainting, [...]

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]]> https://healthhype.com/rare-genetic-disorders-hereditary-fructose-intolerance.html/feed 6 How to Build Muscle Fast- A Science-Based Guide https://healthhype.com/how-to-build-muscle-fast-a-science-based-guide.html https://healthhype.com/how-to-build-muscle-fast-a-science-based-guide.html#respond Tue, 01 Apr 2025 11:57:04 +0000 https://healthhype.com/?p=37656 Learn how to build muscle fast with our science-based guide featuring proven strategies and nutrition tips for quick results. How to Build Muscle Fast: A Science-Based Guide Millions of fitness enthusiasts and busy professionals ask, “How to Build Muscle Fast: A Science-Based Guide” because they want rapid muscle gain without endless hours at the gym. In today’s competitive environment, achieving a lean, strong body requires more than just heavy lifting—it demands a science-backed strategy. This guide explains how to build muscle fast by combining targeted resistance training, optimal nutrition, effective recovery, and supportive lifestyle habits. By following these research-based methods, you can boost muscle repair, accelerate metabolism, and transform your physique naturally. Moreover, studies show that a holistic approach integrating exercise, diet, and recovery produces superior results compared to quick fixes. Consequently, if you want to achieve fast muscle growth and a leaner body, understanding the science behind these methods is essential. How Many Calories Should You Eat Per Day to Lose Weight? – Healthhype Muscle Growth Science & Key Benefits Understanding Muscle Growth Fundamentals Muscle building is a process that relies on creating small tears in muscle fibers through resistance training. Then, with proper nutrition and rest, the body [...]

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]]> https://healthhype.com/how-to-build-muscle-fast-a-science-based-guide.html/feed 0 The Best Anti-Inflammatory Diet for Long-Term Health https://healthhype.com/the-best-anti-inflammatory-diet-for-long-term-health-2.html https://healthhype.com/the-best-anti-inflammatory-diet-for-long-term-health-2.html#respond Wed, 02 Apr 2025 11:07:56 +0000 https://healthhype.com/?p=37662 Discover The Best Anti-Inflammatory Diet for Long-Term Health and improve your immune system, joint pain, and overall wellness. The Best Anti-Inflammatory Diet for Long-Term Health Millions of people struggle with chronic inflammation and its long-term effects on health. Many immediately ask, “What is the best anti-inflammatory diet for long-term health?” because they want to naturally reduce inflammation and lower their risk of disease. In this guide, we break down science-backed strategies, practical meal planning tips, and lifestyle habits that can transform your diet and promote long-lasting wellness. By learning The Best Anti-Inflammatory Diet for Long-Term Health, you’ll be able to reduce inflammation, boost energy, and protect your body against chronic conditions. Countless studies confirm that chronic inflammation is linked to conditions like heart disease, arthritis, and diabetes. Many people experience fatigue, joint pain, and digestive issues but are unaware that their diet might be a contributing factor. They often search for effective ways to lower inflammation through natural foods and lifestyle changes. Research consistently shows that diets rich in whole, unprocessed foods, antioxidants, and omega-3 fatty acids can help reduce inflammation and improve overall health. In this comprehensive article, we reveal The Best Anti-Inflammatory Diet for Long-Term Health by explaining [...]

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]]> https://healthhype.com/the-best-anti-inflammatory-diet-for-long-term-health-2.html/feed 0 Mindfulness for Beginners-How to Get Started Effectively https://healthhype.com/mindfulness-for-beginners-how-to-get-started.html https://healthhype.com/mindfulness-for-beginners-how-to-get-started.html#respond Wed, 02 Apr 2025 11:34:08 +0000 https://healthhype.com/?p=37666 Start your journey with mindfulness for beginners: easy, science-backed techniques to reclaim calm and improve well-being. Mindfulness for Beginners: How to Get Started Millions of people today are seeking ways to clear mental clutter and find inner calm, and many immediately ask, “Mindfulness for Beginners: How to Get Started?” Whether you’re new to meditation or looking for practical tips to reduce stress, this comprehensive guide explains the science-backed methods and simple techniques that can help you begin your mindfulness journey. In this article, we explore essential mindfulness practices, beginner meditation tips, and daily habits for reducing stress and boosting focus. By following these clear mind strategies, you’ll discover how mindfulness for beginners can transform your life, improve your cognitive function, and promote overall well-being. Many individuals experience chronic stress, anxiety, and mental fatigue due to a fast-paced lifestyle and digital overload. They frequently ask, “Mindfulness for Beginners: How to Get Started?” because they need practical, sustainable solutions that restore clarity and reduce brain fog. Scientific research shows that even short, daily mindfulness sessions can significantly lower stress hormones and enhance mental focus. Without these practices, you may continue to struggle with distraction and burnout. In this detailed guide, we break [...]

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