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Metacarpal Synostosis
Metacarpal synostosis is a rare congenital difference which is characterized by the fusion of 2 (or, in rare cases, more) metacarpals of the hand, which are usually shortened. It is most commonly seen as a fusion of the Fourth metacarpal bone, 4th and Fifth metacarpal bone, 5th metacarpals. It is a type of non-syndromic syndactyly/synostosis. Autosomal dominant and X-linked recessive inheritance patterns have been reported. Signs and symptoms The fusion of two or more metacarpal bones is the characteristic feature of this malformation, however this itself causes more symptoms, such as clinodactyly, brachymetacarpia, shortening of the fused metacarpal bones, and reduced range of mobility of the fingers supported by the metacarpals. Complications There are usually no serious health complications associated with this condition, although severe cases which also involve syndactyly might interfere with hand function. Causes The variant of MS that fuses the Fourth metacarpal bon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thumb Hypoplasia
Thumb hypoplasia is a spectrum of congenital abnormalities of the thumb varying from small defects to complete absence of the thumb.Riley, S.A. & Burgess, R.C. (2009). Thumb Hypoplasia. ''Journal of Hand Surgery'', vol 34A, 1564–1573 It can be isolated, when only the thumb is affected, and in 60% of the casesAshbaugh, H. & Gellman, H. (2009). Congenital Thumb Deformities and Associated Syndromes. Journal of Craniofacial Surgery, vol 20, number 4, 1039–1044 it is associated with radial dysplasia (or radial club, radius dysplasia, longitudinal radial deficiency). Radial dysplasia is the condition in which the forearm bone and the soft tissues on the thumb side are underdeveloped or absent.Manske, P.R. & Goldfarb, C.A. (2009). Congenital Failure of Formation of the Upper Limb. ''Hand Clinics'', 25, 157–170 In an embryo the upper extremities develop from week four of the gestation. During the fifth to eighth week the thumb will further develop.Hovius, S., Foucher, G. & Raimondi, P ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apert's Syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics. Linguistically, in the term "acrocephalosyndactyly", ''acro'' is Greek for "peak", referring to the "peaked" head that is common in the syndrome; ''cephalo'', also from Greek, is a combining form meaning "head"; ''syndactyly'' refers to webbing of fingers and toes. In embryology, the hands and feet have selective cells that die in a process called selective cell death, or apoptosis, causing separation of the digits. In the case of acrocephalosyndactyly, selective cell deat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Extensor Digiti Minimi Quinti
In anatomy, extension is a movement of a joint that increases the angle between two bones or body surfaces at a joint. Extension usually results in straightening of the bones or body surfaces involved. For example, extension is produced by extending the flexed (bent) elbow. Straightening of the arm would require extension at the elbow joint. If the head is tilted all the way back, the neck is said to be extended. Extensor muscles Upper limb *of arm at shoulder **Axilla and shoulder ***Latissimus dorsi *** Posterior fibres of deltoid ***Teres major *of forearm at elbow **Posterior compartment of the arm ***Triceps brachii ***Anconeus *of hand at wrist **Posterior compartment of the forearm ***Extensor carpi radialis longus ***Extensor carpi radialis brevis ***Extensor carpi ulnaris ***Extensor digitorum *of phalanges, at all joints **Posterior compartment of the forearm ***Extensor digitorum ***Extensor digiti minimi (little finger only) ***Extensor indicis (index finger only) *o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Graft
Bone grafting is a type of transplantation used to replace missing bone tissue or stimulate the healing of fractures. This surgical procedure is useful for repairing bone fractures that are extremely complex, pose a significant health risk to the patient, or fail to heal properly, leading to pseudoarthrosis. While some small or acute fractures can heal without bone grafting, the risk is greater for large fractures, such as compound fractures. Additionally, structural or morcellized bone grafting can be used in joint replacement revision surgery when wide osteolysis is present. Bone generally has the ability to regenerate completely but requires a very small fracture space or some sort of scaffold to do so. Bone grafts may be autologous (bone harvested from the patient's own body, often from the iliac crest), allograft (cadaveric bone usually obtained from a bone bank), or synthetic (often made of hydroxyapatite or other naturally occurring and biocompatible substances) with simil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteotomy
An osteotomy is a surgical operation whereby a bone is cut to shorten or lengthen it or to change its alignment. It is sometimes performed to correct a hallux valgus, or to straighten a bone that has healed crookedly following a fracture. It is also used to correct a coxa vara, genu valgum, and genu varum. The operation is done under a general anaesthetic. Osteotomy is one method to relieve pain of arthritis, especially of the hip and knee. It is being replaced by joint replacement in the older patient. Due to the serious nature of this procedure, recovery may be extensive. Careful consultation with a physician is important in order to ensure proper planning during a recovery phase. Tools exist to assist recovering patients who may have non– weight bearing requirements and include bedpans, dressing sticks, long-handled shoe-horns, grabbers/reachers and specialized walkers and wheelchairs. Osteotomies of the hip Two main types of osteotomies are used in the correction of h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sanger Sequencing
Sanger sequencing is a method of DNA sequencing that involves electrophoresis and is based on the random incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication. After first being developed by Frederick Sanger and colleagues in 1977, it became the most widely used sequencing method for approximately 40 years. An automated instrument using slab gel electrophoresis and fluorescent labels was first commercialized by Applied Biosystems in March 1987. Later, automated slab gels were replaced with automated capillary array electrophoresis. Recently, higher volume Sanger sequencing has been replaced by next generation sequencing methods, especially for large-scale, automated genome analyses. However, the Sanger method remains in wide use for smaller-scale projects and for validation of deep sequencing results. It still has the advantage over short-read sequencing technologies (like Illumina) in that it can produce DNA sequence reads of > ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Whole Exome Sequencing
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology. The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic. Motivation and comparison to other approaches Exome sequencing is especially effective in the st ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radiographs
Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical ("diagnostic" radiography and "therapeutic radiography") and industrial radiography. Similar techniques are used in airport security, (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and it is projected towards the object. A certain amount of the X-rays or other radiation are absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a detector (either photographic film or a digital detector). The generation of flat two-dimensional images by this technique is called projectional radiography. In computed tomography (CT scanning), an X-ray source and its associated de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physical Examination
In a physical examination, medical examination, clinical examination, or medical checkup, a medical practitioner examines a patient for any possible medical signs or symptoms of a Disease, medical condition. It generally consists of a series of questions about the patient's medical history followed by an examination based on the reported symptoms. Together, the medical history and the physical examination help to determine a medical diagnosis, diagnosis and devise the treatment plan. These data then become part of the medical record. Types Routine The ''routine physical'', also known as ''general medical examination'', ''periodic health evaluation'', ''annual physical'', ''comprehensive medical exam'', ''general health check'', ''preventive health examination'', ''medical check-up'', or simply ''medical'', is a physical examination performed on an asymptomatic patient for medical screening purposes. These are normally performed by a pediatrician, family practice physician, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polydactyly
Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness. It is associated with at least 39 genetic mutations. It may either present alone or with other defects. Cases may run in families. The underlying mechanism involves an error in limb bud formation during early development. Diagnosis may occur before birth via prenatal ultrasound as early as nine weeks. X-rays may be useful after a child is a year old. The opposite is oligodactyly (fewer fingers or toes). Treatment varies from removal by cautery to more involved surgery. While putting a tight band around the base has been carried out, this is not typically recommended. If surgery is required, this is often done around two years of age. Occasionally multiple surgeries are required. Polydactyly is present in about 4 to 12 per 10,000 newborns. It is the most common defect of the ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleft Hand
Ectrodactyly, split hand, or cleft hand () involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet. It is a substantial rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest. The central ray of the hand is affected and usually appears without proximal deficiencies of nerves, vessels, tendons, muscles and bones in contrast to the radial and ulnar deficiencies. The cleft hand appears as a V-shaped cleft situated in the centre of the hand. The digits at the borders of the cleft might be syndactilyzed, and one or more digits can be absent. In most ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome X
The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of '' Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of the object and consequently named it ''X element'', which later became X chromosome after it was established that it wa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
