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7q11.23 Duplication Syndrome
7q11.23 duplication syndrome (also called dup7 or Duplication of the Williams syndrome, Williams-Beuren Syndrome Critical Region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7. This syndrome is characterized by a wide spectrum of neurological, behavior and other medical problems which may appear in different levels of severity. Common characteristics are speech and sound disorder (CAS - childhood apraxia of speech, dysarthria), delayed development, delayed motor development and clumsiness, anxiety (especially on social conditions), selective mutism (in 20% of the subjects), ADHD, oppositional disorder, ASD (in 20%), intellectual disability in 18%, cardio-vascular disease (dilation of the ascending aorta in 46%), seizures in 19%, neurological abnormalities (hypotonia, adventitious movements). hydrocephalus in 5.6%, chronic constipation. The syndrome was first reported in 2005 Symptoms and signs # Eyes issues - hi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Williams Syndrome
Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people with WS have an outgoing personality, an openness to engaging with other people, and a happy disposition. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The differ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ascending Aorta
The ascending aorta (AAo) is a portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum. Structure It passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about behind the posterior surface of the sternum. The total length is about . Components The aortic root is the portion of the aorta beginning at the aortic annulus and extending to the sinotubular junction. It is sometimes regarded as a part of the ascending aorta, and sometimes regarded as a separate entity from the rest of the ascending aorta. Between each commissure of the aortic valve and opposite the cusps of the aortic valve, three small dilatations called the aortic sinuses. The sinotubular junction is the point in the ascend ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Speech Therapy
Speech is a human vocal communication using language. Each language uses phonetic combinations of vowel and consonant sounds that form the sound of its words (that is, all English words sound different from all French words, even if they are the same word, e.g., "role" or "hotel"), and using those words in their semantic character as words in the lexicon of a language according to the syntactic constraints that govern lexical words' function in a sentence. In speaking, speakers perform many different intentional speech acts, e.g., informing, declaring, asking, persuading, directing, and can use enunciation, intonation, degrees of loudness, tempo, and other non-representational or paralinguistic aspects of vocalization to convey meaning. In their speech, speakers also unintentionally communicate many aspects of their social position such as sex, age, place of origin (through accent), physical states (alertness and sleepiness, vigor or weakness, health or illness), psycholog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ultrasound
Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies from person to person and is approximately 20 kilohertz (20,000 hertz) in healthy young adults. Ultrasound devices operate with frequencies from 20 kHz up to several gigahertz. Ultrasound is used in many different fields. Ultrasonic devices are used to detect objects and measure distances. Ultrasound imaging or sonography is often used in medicine. In the nondestructive testing of products and structures, ultrasound is used to detect invisible flaws. Industrially, ultrasound is used for cleaning, mixing, and accelerating chemical processes. Animals such as bats and porpoises use ultrasound for locating prey and obstacles. History Acoustics, the science of sound, starts as far back as Pythagoras in the 6th century BC, who wrote on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Echocardiogram
An echocardiography, echocardiogram, cardiac echo or simply an echo, is an ultrasound of the heart. It is a type of medical imaging of the heart, using standard ultrasound or Doppler ultrasound. Echocardiography has become routinely used in the diagnosis, management, and follow-up of patients with any suspected or known heart diseases. It is one of the most widely used diagnostic imaging modalities in cardiology. It can provide a wealth of helpful information, including the size and shape of the heart (internal chamber size quantification), pumping capacity, location and extent of any tissue damage, and assessment of valves. An echocardiogram can also give physicians other estimates of heart function, such as a calculation of the cardiac output, ejection fraction, and diastolic function (how well the heart relaxes). Echocardiography is an important tool in assessing wall motion abnormality in patients with suspected cardiac disease. It is a tool which helps in reaching an ea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypermobility (joints)
Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, put their leg behind the head or perform other contortionist "tricks". It can affect one or more joints throughout the body. Hypermobile joints are common and occur in about 10 to 25% of the population, but in a minority of people, pain and other symptoms are present. This may be a sign of what is known as joint hypermobility syndrome (JMS) or, more recently, hypermobility spectrum disorder (HSD). Hypermobile joints are a feature of genetic connective tissue disorders such as hypermobility spectrum disorder (HSD) or Ehlers–Danlos syndromes (EDS). Until new diagnostic criteria were introduced, hypermobility syndrome was sometimes considered identical to hypermobile Ehlers–Danlos syndrome (hEDS), formerly called EDS Type 3. As no genetic test can distinguish ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypospadias
Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location in the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting about one of every 250 males at birth. Roughly 90% of cases are the less serious distal hypospadias, in which the urethral opening (the meatus) is on or near the head of the penis ( glans). The remainder have proximal hypospadias, in which the meatus is all the way back on the shaft of the penis, near or within the scrotum. Shiny tissue that should have made the urethra extends from the meatus to the tip of the glans; this tissue is called the urethral plate. In most cases, the foreskin is less developed and does not wrap completely around the penis, leaving the underside of the glans uncovered. Also, a downward bending of the penis, commonly referred to as chordee, may occur. Chordee is found in 10% of distal hypospadias and 50% of proxim ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Strabismus
Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on an object can alternate. The condition may be present occasionally or constantly. If present during a large part of childhood, it may result in amblyopia, or lazy eyes, and loss of depth perception. If onset is during adulthood, it is more likely to result in diplopia, double vision. Strabismus can occur due to muscle dysfunction, farsightedness, problems in the brain, trauma or infections. Risk factors include premature birth, cerebral palsy and a family history of the condition. Types include esotropia, where the eyes are crossed ("cross eyed"); exotropia, where the eyes diverge ("lazy eyed" or "wall eyed"); and hypertropia or hypotropia where they are vertically misaligned. They can also be classified by whether the problem is present in all directions a person looks (comitant) or varies by direction (incomitant). Diagnosis may be mad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adventitious Movements
Important structures in plant development are buds, shoots, roots, leaves, and flowers; plants produce these tissues and structures throughout their life from meristems located at the tips of organs, or between mature tissues. Thus, a living plant always has embryonic tissues. By contrast, an animal embryo will very early produce all of the body parts that it will ever have in its life. When the animal is born (or hatches from its egg), it has all its body parts and from that point will only grow larger and more mature. However, both plants and animals pass through a phylotypic stage that evolved independently and that causes a developmental constraint limiting morphological diversification. According to plant physiologist A. Carl Leopold, the properties of organization seen in a plant are emergent properties which are more than the sum of the individual parts. "The assembly of these tissues and functions into an integrated multicellular organism yields not only the characteristic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizure
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness ( tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness ( focal seizure), to a subtle momentary loss of awareness ( absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizures may be exacerbated by stre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardio-vascular Disease
Cardiovascular disease (CVD) is a class of diseases that involve the heart or blood vessels. CVD includes coronary artery diseases (CAD) such as angina and myocardial infarction (commonly known as a heart attack). Other CVDs include stroke, heart failure, hypertensive heart disease, rheumatic heart disease, cardiomyopathy, abnormal heart rhythms, congenital heart disease, valvular heart disease, carditis, aortic aneurysms, peripheral artery disease, thromboembolic disease, and venous thrombosis. The underlying mechanisms vary depending on the disease. It is estimated that dietary risk factors are associated with 53% of CVD deaths. Coronary artery disease, stroke, and peripheral artery disease involve atherosclerosis. This may be caused by high blood pressure, smoking, diabetes mellitus, lack of exercise, obesity, high blood cholesterol, poor diet, excessive alcohol consumption, and poor sleep, among other things. High blood pressure is estimated to account for appr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
