Bundesverband Kleinwüchsige Menschen Und Ihre Familien
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Bundesverband Kleinwüchsige Menschen Und Ihre Familien
The Bundesverband Kleinwüchsige Menschen und ihre Familien e.V. (BKMF e.V.) is a German organization in the field of health-oriented, family-oriented self-help. It advocates for the interests and concerns of dwarfism , short statured individuals and their families in Germany. In 2013, the association had over 3,500 members. Since there are various causes for dwarfism, the spectrum of diagnoses among the members is also diverse. History The origins of the association date back to the early 1980s. At that time, parents of dwarfs began to meet with the goal of networking and exchanging experiences and information. The initiative came from Ruzena and Karl-Heinz Klingebiel and the psychologist Ortrun Schott. The association was initially founded on February 16, 1988, as the "Elterngruppe kleinwüchsiger Kinder e.V." (Parents' Group of Dwarf Children).''Chronicle – 25 years of family-oriented health self-help.'' Bremen 2012, Bundesverband Kleinwüchsige Menschen und ihre Familie ...
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Medical And Health Organizations
Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness. Contemporary medicine applies biomedical sciences, biomedical research, genetics, and medical technology to diagnose, treat, and prevent injury and disease, typically through pharmaceuticals or surgery, but also through therapies as diverse as psychotherapy, external splints and traction, medical devices, biologics, and ionizing radiation, amongst others. Medicine has been practiced since prehistoric times, and for most of this time it was an art (an area of skill and knowledge), frequently having connections to the religious and philosophical beliefs of local culture. For example, a medicine man would apply herbs and say prayers for healing, or an anci ...
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Growth Disorders
Growth hormone therapy refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy. Growth hormone is a peptide hormone secreted by the pituitary gland that stimulates growth and cell reproduction. In the past, growth hormone was extracted from human pituitary glands. Growth hormone is now produced by recombinant DNA technology and is prescribed for a variety of reasons. GH therapy has been a focus of social and ethical controversies for 50 years. This article describes the history of GH treatment and the current uses and risks arising from GH use. Other articles describe GH physiology, diseases of GH excess ( acromegaly and pituitary gigantism), deficiency, the recent phenomenon of HGH controversies, growth hormone in sports, and growth hormone for cows. Medical uses HGH deficiency in children Growth hormone deficiency is treated by replacing growth hormone. Lonapegsomatropin was approved for medical use in the United States in ...
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Disability Organizations
Disability is the experience of any condition that makes it more difficult for a person to do certain activities or have equitable access within a given society. Disabilities may be cognitive, developmental, intellectual, mental, physical, sensory, or a combination of multiple factors. Disabilities can be present from birth or can be acquired during a person's lifetime. Historically, disabilities have only been recognized based on a narrow set of criteria—however, disabilities are not binary and can be present in unique characteristics depending on the individual. A disability may be readily visible, or invisible in nature. The United Nations Convention on the Rights of Persons with Disabilities defines disability as: Disabilities have been perceived differently throughout history, through a variety of different theoretical lenses. There are two main models that attempt to explain disability in our society: the medical model and the social model. The medical model serves as ...
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Dwarfism
Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is , although some individuals with dwarfism are slightly taller. ''Disproportionate dwarfism'' is characterized by either short limbs or a short torso. In cases of ''proportionate dwarfism'', both the limbs and torso are unusually small. Intelligence is usually normal, and most have a nearly normal life expectancy. People with dwarfism can usually bear children, though there are additional risks to the mother and child dependent upon the underlying condition. The most common and recognisable form of dwarfism in humans (comprising 70% of cases) is achondroplasia, a genetic disorder whereby the limbs are diminutive. Growth hormone deficiency is responsible for most other cases. Treatment depends on the underlying cause. Those w ...
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Multiple Hereditary Exostoses
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas. Additional sites of occurrence include on flat bones such as the pelvic bone and scapula. The distribution and number of these exostoses show a wide diversity among affected individuals. Exostoses usually present during childhood. The vast majority of affected individuals become clinically manifest by the time they reach adolescence. A small percentage of affected individuals are at risk for development of malignant transformation namely sarcomas. The incidence of hereditary multiple exostoses is around 1 in 50,000 individuals. Hereditary multiple osteochondromas is the preferred term used by the World Hea ...
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TRPS
Tunable Resistive Pulse Sensing (TRPS) is a single-particle technique used to measure the size, concentration and zeta potential of particles as they pass through a size-tunable nanopore. The technique adapts the principle of resistive pulse sensing, which monitors current flow through an aperture, combined with the use of tunable nanopore technology, allowing the passage of ionic current and particles to be regulated by adjusting the pore size. Technique Particles crossing a pore are detected one at a time as a transient change in the ionic current flow, which is denoted as a blockade event with its amplitude denoted as the blockade magnitude. As blockade magnitude is proportional to particle size, accurate particle sizing can be achieved after calibration with a known standard. Nanopore-based detection allows particle-by-particle assessment of complex mixtures. Optimization of pore size to particle size, by adjusting the stretch of the pore, can improve measurement accurac ...
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Small For Gestational Age
Small for gestational age (SGA) newborns are those who are smaller in size than normal for the gestational age, most commonly defined as a weight below the 10th percentile for the gestational age. Causes Being small for gestational age is broadly either: * Being constitutionally small, wherein the state is basically a genetic trait of the baby. * Intrauterine growth restriction, also called "pathological SGA" Diagnosis The condition is determined by birth weight and/or length. A related condition, intrauterine growth restriction, is generally diagnosed by measuring the mother's uterus, with the fundal height being less than it should be for that stage of the pregnancy. If it is suspected, the mother will usually be sent for an ultrasound to confirm. Management Ninety percent of babies born SGA catch up in growth by the time they reach 2 years old. However, all SGA babies should be watched for signs of failure to thrive, hypoglycemia and other conditions common to SGA babies (see ...
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Congenital Spondyloepiphyseal Dysplasia
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be ...
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Hypochondroplasia
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (''FGFR3'') that results in a disproportionately short stature, micromeliaupdate 2013 and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism. Signs and symptoms Individuals affected by this disorder appear normal at birth. As the infant grows, however, their arms and legs do not develop properly, and their body becomes thicker and shorter than normal. The following are characteristics consistent with this condition: * Brachydactyly * Short stature * Micromelia * Skeletal dysplasia * Abnormality of femur Cause Hypochondroplasia is transmitted as an autosomal dominant trait affecting the ''FGFR3'' gene on chromosome 4p16.3. There is currently no cure for this condition. Pathophysiology This disorder results from mutations in the proximal tyrosine kinase domain ...
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