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Nathalie Syndrome
Nathalie syndrome is a rare genetic developmental defect during embryogenesis disorder and is thought to be hereditary. In 1975 a physician described four siblings in a Dutch family with symptoms of the condition; the condition was named after the oldest sibling. According to Orphanet, the condition occurs in 1 in 1 million people. Children with this condition appear younger than their age. Nathalie syndrome can cause disability and death around early or mid adulthood. Sudden death, cardiomyopathy, and heart failure Heart failure (HF), also known as congestive heart failure (CHF), is a syndrome, a group of signs and symptoms caused by an impairment of the heart's blood pumping function. Symptoms typically include shortness of breath, excessive fatigue, a ... have been reported in some cases. References {{genetic-disorder-stub Genetic syndromes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cataracts
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiac
The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide to the lungs. In humans, the heart is approximately the size of a closed fist and is located between the lungs, in the middle compartment of the chest. In humans, other mammals, and birds, the heart is divided into four chambers: upper left and right atria and lower left and right ventricles. Commonly the right atrium and ventricle are referred together as the right heart and their left counterparts as the left heart. Fish, in contrast, have two chambers, an atrium and a ventricle, while most reptiles have three chambers. In a healthy heart blood flows one way through the heart due to heart valves, which prevent backflow. The heart is enclosed in a protective sac, the pericardium, which also contains a small amount of fluid. The wall o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skeletal
A skeleton is the structural frame that supports the body of an animal. There are several types of skeletons, including the exoskeleton, which is the stable outer shell of an organism, the endoskeleton, which forms the support structure inside the body, and the hydroskeleton, a flexible internal skeleton supported by fluid pressure. Vertebrates are animals with a vertebral column, and their skeletons are typically composed of bone and cartilage. Invertebrates are animals that lack a vertebral column. The skeletons of invertebrates vary, including hard exoskeleton shells, plated endoskeletons, or spicules. Cartilage is a rigid connective tissue that is found in the skeletal systems of vertebrates and invertebrates. Etymology The term ''skeleton'' comes . ''Sceleton'' is an archaic form of the word. Classification Skeletons can be defined by several attributes. Solid skeletons consist of hard substances, such as bone, cartilage, or cuticle. These can be further divided by loca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Secondary Sex Characteristics
Secondary sex characteristics are features that appear during puberty in humans, and at sexual maturity in other animals. These characteristics are particularly evident in the sexually dimorphic phenotypic traits that distinguish the sexes of a species, but unlike the sex organs (primary sex characteristics), are not directly part of the reproductive system. Secondary sex characteristics are believed to be the product of sexual selection for traits which display fitness, giving an organism an advantage over its rivals in courtship and in aggressive interactions. Secondary sex characteristics include, for example, the manes of male lions, the bright facial and rump coloration of male mandrills, and horns in many goats and antelopes. These characteristics are believed to be produced by a positive feedback loop known as the Fisherian runaway produced by the secondary characteristic in one sex and the desire for that characteristic in the other sex. Male birds and fish of many species ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. It may also appear later in life and then have a milder course of the disease. The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures. The age of onset and the severity of symptoms form the basis of the traditional classification of spinal muscular atrophy into a number of types. Spinal muscular atrophy is due to an abnormality (mutation) in the ''SMN1'' gene which encodes SMN, a protein necessary for survival of motor neurons. Loss of these neurons in the spinal cord prevents signalling between the brain and skeletal muscles. Another g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Embryonic Development
Human embryonic development, or human embryogenesis, is the development and formation of the human embryo. It is characterised by the processes of cell division and cellular differentiation of the embryo that occurs during the early stages of development. In biological terms, the development of the human body entails growth from a one-celled zygote to an adult human being. Fertilization occurs when the sperm cell successfully enters and fuses with an egg cell (ovum). The genetic material of the sperm and egg then combine to form the single cell zygote and the germinal stage of development commences. Embryonic development in the human, covers the first eight weeks of development; at the beginning of the ninth week the embryo is termed a fetus. Human embryology is the study of this development during the first eight weeks after fertilization. The normal period of gestation (pregnancy) is about nine months or 40 weeks. The germinal stage refers to the time from fertilization through ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the ''Orphanet Journal of Rare Diseases'' published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. Functions available Orphanet is an online database with the aspiration of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes) Orphanet makes a contribution in making them more visible in health and research information systems. The information is ava ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiomyopathy
Cardiomyopathy is a group of diseases that affect the heart muscle. Early on there may be few or no symptoms. As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. An irregular heart beat and fainting may occur. Those affected are at an increased risk of sudden cardiac death. Types of cardiomyopathy include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia, and Takotsubo cardiomyopathy (broken heart syndrome). In hypertrophic cardiomyopathy the heart muscle enlarges and thickens. In dilated cardiomyopathy the ventricles enlarge and weaken. In restrictive cardiomyopathy the ventricle stiffens. In many cases, the cause cannot be determined. Hypertrophic cardiomyopathy is usually inherited, whereas dilated cardiomyopathy is inherited in about one third of cases. Dilated cardiomyopathy may also result from alcohol, heavy m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Failure
Heart failure (HF), also known as congestive heart failure (CHF), is a syndrome, a group of signs and symptoms caused by an impairment of the heart's blood pumping function. Symptoms typically include shortness of breath, excessive fatigue, and leg swelling. The shortness of breath may occur with exertion or while lying down, and may wake people up during the night. Chest pain, including angina, is not usually caused by heart failure, but may occur if the heart failure was caused by a heart attack. The severity of the heart failure is measured by the severity of symptoms during exercise. Other conditions that may have symptoms similar to heart failure include obesity, kidney failure, liver disease, anemia, and thyroid disease. Common causes of heart failure include coronary artery disease, heart attack, high blood pressure, atrial fibrillation, valvular heart disease, excessive alcohol consumption, infection, and cardiomyopathy. These cause heart failure by altering ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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