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CHILD Syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with minimal linear or segmental contralateral involvement. The acronym was introduced in 1980. Symptoms and signs The acronym CHILD stands for the symptoms of the syndrome: * CH = Congenital Hemidysplasia—One side of the body, most of the time the right side, is poorly developed. The right ribs, neck, vertebrae, etc. may be underdeveloped and the internal organs may be affected. * I - Ichthyosiform Erythroderma—At birth or shortly after birth, there are red, inflamed patches (erythroderma), and flaky scales (ichthyosis) on the side of the body that is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Dominant
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder is located on the X chromosome, and only one copy of the allele is sufficient to cause the disorder when inherited from a parent who has the disorder. In this case, someone who expresses an X-linked dominant allele will exhibit the disorder and be considered affected. X-linked dominant traits do not necessarily affect males more than females (unlike X-linked recessive traits). The exact pattern of inheritance varies, depending on whether the father or the mother has the trait of interest. All fathers that are affected by an X-linked dominant disorder will have affected daughters but not affected sons. However, if the mother is also affected ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urea
Urea, also known as carbamide, is an organic compound with chemical formula . This amide has two amino groups (–) joined by a carbonyl functional group (–C(=O)–). It is thus the simplest amide of carbamic acid. Urea serves an important role in the metabolism of nitrogen-containing compounds by animals and is the main nitrogen-containing substance in the urine of mammals. It is a colorless, odorless solid, highly soluble in water, and practically non-toxic ( is 15 g/kg for rats). Dissolved in water, it is neither acidic nor alkaline. The body uses it in many processes, most notably nitrogen excretion. The liver forms it by combining two ammonia molecules () with a carbon dioxide () molecule in the urea cycle. Urea is widely used in fertilizers as a source of nitrogen (N) and is an important raw material for the chemical industry. In 1828 Friedrich Wöhler discovered that urea can be produced from inorganic starting materials, which was an important conceptual milestone ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Dominant Disorders
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected fath ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genodermatoses
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin Disorders - a publ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epidermal Nevus Syndrome
Epidermal nevus syndrome (also known as "Feuerstein and Mims syndrome", and "Solomon's syndrome"Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .) is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system, genitourinary system and eyes.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . However, since the syndrome's first description, a broader concept for the "epidermal nevus" syndrome has been proposed, with at least six types being described:Happle, R. "Epidermal nevus syndrome." ''Semin Dermatol''. 1995;14:111. :* Schimmelpenning syndrome :* Nevus comedonicus syndrome :* Pigmented hairy epidermal nevus syndrome :* Proteus syndrome :* CHILD syndrome :* Phakomatosis pigmentokeratotica Phakomatosis pigmentokeratotica ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stephanie Jallen
Stephanie Jallen (born February 13, 1996), nicknamed Hopper, is an American skier. She qualified for the 2014 Winter Paralympics competing for Team USA and won a bronze in the standing super-G and super combined. Personal history Stephanie Jallen was born on 13 February 1996 in Kingston, Pennsylvania. Jallen was born with CHILD syndrome, Congenital Hemidysplasia with Ichthyosis and Limb Defects Syndrome. This meant that Jallen's left leg had to be amputated, her left side is under-developed, and she suffers from rashes. Her nickname, Hopper, comes from the fact that when her prosthetic limbs weren't being worn, she had to hop. Jallen has always been active and learned to play soccer with her friends. She does have a crutch but she uses it mainly for balance and is happy to stand or move around on her leg. In an interview she said that she would not want to have her limbs back to normal as that would just make her "boring". Jallen is studying at King's College in hopes of earn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lung
The lungs are the primary organs of the respiratory system in humans and most other animals, including some snails and a small number of fish. In mammals and most other vertebrates, two lungs are located near the backbone on either side of the heart. Their function in the respiratory system is to extract oxygen from the air and transfer it into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere, in a process of gas exchange. Respiration is driven by different muscular systems in different species. Mammals, reptiles and birds use their different muscles to support and foster breathing. In earlier tetrapods, air was driven into the lungs by the pharyngeal muscles via buccal pumping, a mechanism still seen in amphibians. In humans, the main muscle of respiration that drives breathing is the diaphragm. The lungs also provide airflow that makes vocal sounds including human speech possible. Humans have two lungs, one on the left and on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, acid–base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hydrogen, ammonium, potassium and uric acid. The nephron is the structural and functional unit of the kidney. Each adult human kidney contains around 1 million nephrons, while a mouse kidney contains on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Central Nervous System
The central nervous system (CNS) is the part of the nervous system consisting primarily of the brain and spinal cord. The CNS is so named because the brain integrates the received information and coordinates and influences the activity of all parts of the bodies of bilaterally symmetric and triploblastic animals—that is, all multicellular animals except sponges and diploblasts. It is a structure composed of nervous tissue positioned along the rostral (nose end) to caudal (tail end) axis of the body and may have an enlarged section at the rostral end which is a brain. Only arthropods, cephalopods and vertebrates have a true brain (precursor structures exist in onychophorans, gastropods and lancelets). The rest of this article exclusively discusses the vertebrate central nervous system, which is radically distinct from all other animals. Overview In vertebrates, the brain and spinal cord are both enclosed in the meninges. The meninges provide a barrier to chemicals dissolv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-ray
An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10 picometers to 10 nanometers, corresponding to frequencies in the range 30 petahertz to 30 exahertz ( to ) and energies in the range 145 eV to 124 keV. X-ray wavelengths are shorter than those of UV rays and typically longer than those of gamma rays. In many languages, X-radiation is referred to as Röntgen radiation, after the German scientist Wilhelm Conrad Röntgen, who discovered it on November 8, 1895. He named it ''X-radiation'' to signify an unknown type of radiation.Novelline, Robert (1997). ''Squire's Fundamentals of Radiology''. Harvard University Press. 5th edition. . Spellings of ''X-ray(s)'' in English include the variants ''x-ray(s)'', ''xray(s)'', and ''X ray(s)''. The most familiar use of X-rays is checking for fractures (broken bones), but X-rays are also used in other ways. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ichthyosis
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes from the Greek ἰχθύς ''ichthys'', literally "fish", since dry, scaly skin is the defining feature of all forms of ichthyosis. The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases. Types Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively come under the um ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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