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Dolichospondylic Dysplasia
3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972. Mutations in any one of the following three genes: ''CUL7'', ''OBSL1'', and ''CCDC8'' are responsible for the occurrence of this disorder. It is inherited through an autosomal recessive pattern and considered very rare, so far less than 100 cases worldwide have been identified. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and may include surgical bone lengthening, adaptive aids, and physical therapy. An endocrinologist may assist with growth hormone replacement and appropriate evaluations during puberty ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Facial Dysmorphism
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features is an i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OBSL1
Obscurin-like protein 1 is a protein that in humans is encoded by the ''OBSL1'' gene. References Further reading * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on 3-M syndrome OMIM entries on 3-M syndromePDBe-KB provides an overview of all the structure information available in the PDB for Human Obscurin-like protein 1 (OBSL1) {{gene-2-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Disorders Of Synthesis Of DNA, RNA, And Proteins
Disorder may refer to randomness, non-order, or no intelligible pattern. Disorder may also refer to: Healthcare * Disorder (medicine), a functional abnormality or disturbance * Mental disorder or psychological disorder, a psychological pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture: :* Anxiety disorder, different forms of abnormal and pathological fear and anxiety :* Conversion disorder, neurological symptoms such as numbness, blindness, paralysis, or fits, where no neurological explanation is possible :* Obsessive–compulsive disorder, an anxiety disorder characterized by repetitive behaviors aimed at reducing anxiety :* Obsessive–compulsive personality disorder, obsession with perfection, rules, and organization :* Personality disorder, an enduring pattern of inner experience and behavior that deviates markedly from the expectations of the culture of the individual who exhibits it Law enforcemen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Craniofacial Abnormalities
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microtubule
Microtubules are polymers of tubulin that form part of the cytoskeleton and provide structure and shape to eukaryotic cells. Microtubules can be as long as 50 micrometres, as wide as 23 to 27 nm and have an inner diameter between 11 and 15 nm. They are formed by the polymerization of a dimer of two globular proteins, alpha and beta tubulin into protofilaments that can then associate laterally to form a hollow tube, the microtubule. The most common form of a microtubule consists of 13 protofilaments in the tubular arrangement. Microtubules play an important role in a number of cellular processes. They are involved in maintaining the structure of the cell and, together with microfilaments and intermediate filaments, they form the cytoskeleton. They also make up the internal structure of cilia and flagella. They provide platforms for intracellular transport and are involved in a variety of cellular processes, including the movement of secretory vesicles, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homogeneity And Heterogeneity
Homogeneity and heterogeneity are concepts often used in the sciences and statistics relating to the uniformity of a substance or organism. A material or image that is homogeneous is uniform in composition or character (i.e. color, shape, size, weight, height, distribution, texture, language, income, disease, temperature, radioactivity, architectural design, etc.); one that is heterogeneous is distinctly nonuniform in at least one of these qualities. Heterogeneous Mixtures, in chemistry, is where certain elements are unwillingly combined and, when given the option, will separate. Etymology and spelling The words ''homogeneous'' and ''heterogeneous'' come from Medieval Latin ''homogeneus'' and ''heterogeneus'', from Ancient Greek ὁμογενής (''homogenēs'') and ἑτερογενής (''heterogenēs''), from ὁμός (''homos'', “same”) and ἕτερος (''heteros'', “other, another, different”) respectively, followed by γένος (''genos'', “kind”); - ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Heterogeneity
Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms. There are two types of genetic heterogeneity: allelic heterogeneity, which occurs when a similar phenotype is produced by different alleles within the same gene; and ''locus'' heterogeneity, which occurs when a similar phenotype is produced by mutations at different ''loci''. Role in medical disorders Marked genetic heterogeneity is correlated to multiple levels of causation in many common human diseases including cystic fibrosis, Alzheimer's disease, autism spectrum disorders, inherited predisposition to breast cancer, and non-syndromic hearing loss. These levels of causation are complex and occur through: (1) rare, individual mutations that when combined contribute to the development of common diseases; (2) the accumulation of many different rare, individual mutations within the same gene that contribute to the development of the same common disease within dif ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dental Procedure
Dentistry, also known as dental medicine and oral medicine, is the branch of medicine focused on the teeth, gums, and mouth. It consists of the study, diagnosis, prevention, management, and treatment of diseases, disorders, and conditions of the mouth, most commonly focused on dentition (the development and arrangement of teeth) as well as the oral mucosa. Dentistry may also encompass other aspects of the craniofacial complex including the temporomandibular joint. The practitioner is called a dentist. The history of dentistry is almost as ancient as the history of humanity and civilization with the earliest evidence dating from 7000 BC to 5500 BC. Dentistry is thought to have been the first specialization in medicine which have gone on to develop its own accredited degree with its own specializations. Dentistry is often also understood to subsume the now largely defunct medical specialty of stomatology (the study of the mouth and its disorders and diseases) for which reason t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plastic Surgery
Plastic surgery is a surgical specialty involving the restoration, reconstruction or alteration of the human body. It can be divided into two main categories: reconstructive surgery and cosmetic surgery. Reconstructive surgery includes craniofacial surgery, hand surgery, microsurgery, and the treatment of burns. While reconstructive surgery aims to reconstruct a part of the body or improve its functioning, cosmetic (or aesthetic) surgery aims at improving the appearance of it. Etymology The word ''plastic'' in ''plastic surgery'' means "reshaping" and comes from the Greek πλαστική (τέχνη), ''plastikē'' (''tekhnē''), "the art of modelling" of malleable flesh. This meaning in English is seen as early as 1598. The surgical definition of "plastic" first appeared in 1839, preceding the modern "engineering material made from petroleum" sense by 70 years. History Treatments for the plastic repair of a broken nose are first mentioned in the Egyptian medical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Hormone Treatment
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dentist
A dentist, also known as a dental surgeon, is a health care professional who specializes in dentistry (the diagnosis, prevention, management, and treatment of diseases and conditions of the oral cavity and other aspects of the craniofacial complex including the temporomandibular joint). The dentist's supporting team aids in providing oral health services. The dental team includes dental assistants, dental hygienists, dental technicians, and sometimes dental therapists. History Middle Ages In China as well as France, the first people to perform dentistry were barbers. They have been categorized into 2 distinct groups: guild of barbers and lay barbers. The first group, the Guild of Barbers, was created to distinguish more educated and qualified dental surgeons from lay barbers. Guild barbers were trained to do complex surgeries. The second group, the lay barbers, were qualified to perform regular hygienic services such as shaving and tooth extraction as well as basic sur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthopedist
Orthopedic surgery or orthopedics ( alternatively spelt orthopaedics), is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal trauma, spine diseases, sports injuries, degenerative diseases, infections, tumors, and congenital disorders. Etymology Nicholas Andry coined the word in French as ', derived from the Ancient Greek words ὀρθός ''orthos'' ("correct", "straight") and παιδίον ''paidion'' ("child"), and published ''Orthopedie'' (translated as ''Orthopædia: Or the Art of Correcting and Preventing Deformities in Children'') in 1741. The word was assimilated into English as ''orthopædics''; the ligature ''æ'' was common in that era for ''ae'' in Greek- and Latin-based words. As the name implies, the discipline was initially developed with attention to children, but the correction of spinal and bone deformities in all stages of life eventu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
