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Congenital Disorder Of Glycosylation
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. The most common sub-type is PMM2-CDG (formally known as CDG-Ia) where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate. Presentation The specific problems produced differ according to the particular abnormal synthesis involved. Common manifestations include ataxia; seizures; retinopathy; liver disease; coagulopathies; failure to thrive (FTT); dysmorphic features (''e.g.,'' inverted nip ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Errors Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To this concept it's possible to include the new term of Enzymopathy. This term was created following the study of Biodynamic Enzymology, a science based on the study of the enzymes and their derivated products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinopathy
Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy often refers to retinal vascular disease, or damage to the retina caused by abnormal blood flow. Age-related macular degeneration is technically included under the umbrella term retinopathy but is often discussed as a separate entity. Retinopathy, or retinal vascular disease, can be broadly categorized into proliferative and non-proliferative types. Frequently, retinopathy is an ocular manifestation of systemic disease as seen in diabetes or hypertension. Diabetes is the most common cause of retinopathy in the U.S. as of 2008. Diabetic retinopathy is the leading cause of blindness in working-aged people. It accounts for about 5% of blindness worldwide and is designated a priority eye disease by the World Health Organization. Signs and symptoms Many people often do not have symptoms until very late in their disease course. Patients often become symptomatic when there is irreversible ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Delayed Visual Maturation
Cortical visual impairment (CVI) is a form of visual impairment that is caused by a brain problem rather than an eye problem. (The latter is sometimes termed "ocular visual impairment" when discussed in contrast to cortical visual impairment.) Some people have both CVI and a form of ocular visual impairment. CVI is also sometimes known as cortical blindness, although most people with CVI are not totally blind. The term neurological visual impairment (NVI) covers both CVI and total cortical blindness. Delayed visual maturation, another form of NVI, is similar to CVI, except the child's visual difficulties resolve in a few months. Though the vision of a person with CVI may change, it rarely if ever becomes totally normal. The major causes of CVI are as follows: asphyxia, hypoxia (a lack of sufficient oxygen in the body's blood cells), or ischemia (not enough blood supply to the brain), all of which may occur during the birth process; developmental brain defects; head injury; hydroce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infantile Esotropia
Infantile esotropia is an ocular condition of early onset in which one or either eye turns inward. It is a specific sub-type of esotropia and has been a subject of much debate amongst ophthalmologists with regard to its naming, diagnostic features, and treatment. Presentation Historically the term 'congenital strabismus' was used to describe constant esotropias with onset between birth and six months of age. However, this term was felt to be an inadequate classification as it covered a variety of esotropias with different causes, features and prognoses. In 1988, American ophthalmologist Gunter K. Von Noorden discussed what he described as 'Essential Infantile Esotropia'. He described the condition as: "early acquired, not... congenital ..., although congenital factors may favor its development between the ages of 3 and 6 months". He identified this squint sub-type as having the following features: # Onset between birth and six months of age. # Large size (greater than 30 diop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myopia
Near-sightedness, also known as myopia and short-sightedness, is an eye disease where light focuses in front of, instead of on, the retina. As a result, distant objects appear blurry while close objects appear normal. Other symptoms may include headaches and eye strain. Severe near-sightedness is associated with an increased risk of retinal detachment, cataracts, and glaucoma. The underlying mechanism involves the length of the eyeball growing too long or less commonly the lens being too strong. It is a type of refractive error. Diagnosis is by eye examination. Tentative evidence indicates that the risk of near-sightedness can be decreased by having young children spend more time outside. This decrease in risk may be related to natural light exposure. Near-sightedness can be corrected with eyeglasses, contact lenses, or a refractive surgery. Eyeglasses are the easiest and safest method of correction. Contact lenses can provide a wider field of vision, but are associated with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebellar Hypoplasia
Cerebellar hypoplasia is characterized by reduced cerebellar volume, even though cerebellar shape is (near) normal. It consists of a heterogeneous group of disorders of cerebellar maldevelopment presenting as early-onset non–progressive congenital ataxia, hypotonia and motor learning disability. Various causes have been incriminated, including hereditary, metabolic, toxic and viral agents. It was first reported by French neurologist Octave Crouzon in 1929. In 1940, an unclaimed body came for dissection in London Hospital and was discovered to have no cerebellum. This unique case was appropriately named "human brain without a cerebellum" and was used every year in the Department of Anatomy at Cambridge University in a neuroscience course for medical students. Cerebellar hypoplasia can sometimes present alongside hypoplasia of the corpus callosum or pons. It can also be associated with hydrocephalus or an enlarged fourth ventricle; this is called Dandy–Walker malformation. ... [...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 na ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pericardial Effusion
A pericardial effusion is an abnormal accumulation of fluid in the pericardial cavity. The pericardium is a two-part membrane surrounding the heart: the outer fibrous connective membrane and an inner two-layered serous membrane. The two layers of the serous membrane enclose the pericardial cavity (the potential space) between them.Phelan, D., Collier, P., Grimm, R. Pericardial Disease'. Cleveland Clinic. July 2015. Retrieved Nov 2020. This pericardial space contains a small amount of pericardial fluid. The fluid is normally 15-50 mL in volume. The pericardium, specifically the pericardial fluid provides lubrication, maintains the anatomic position of the heart in the chest, and also serves as a barrier to protect the heart from infection and inflammation in adjacent tissues and organs.Vogiatzidis, Konstantinos et al.Physiology of pericardial fluid production and drainage" ''Frontiers in physiology'' vol. 6 62. 18 Mar. 2015, doi:10.3389/fphys.2015.00062 By definition, a pericardial e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fat Pad
A fat pad (aka haversian gland) is a mass of closely packed fat cells surrounded by fibrous tissue septa.TheFreeDictionary > Fat padCiting: Mosby's Medical Dictionary, 8th edition. 2009 They may be extensively supplied with capillaries and nerve endings. Examples are: * ''Intraarticular fat pads''. These are also covered by a layer of synovial cells. A fat pad sign is an elevation of the anterior and posterior fat pads of the elbow joint, and suggests the presence of an occult fracture. * Buccal fat pad can be seen in nursing babies. * The fat pad of the labia majora, which can be used as a graft Graft or grafting may refer to: *Graft (politics), a form of political corruption * Graft, Netherlands, a village in the municipality of Graft-De Rijp Science and technology *Graft (surgery), a surgical procedure *Grafting, the joining of plant t ..., often as a so-called "Martius labial fat pad graft", which can be used, for example, in urethrolysis. *Fat pads within the heels which w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subcutaneous Tissue
The subcutaneous tissue (), also called the hypodermis, hypoderm (), subcutis, superficial fascia, is the lowermost layer of the integumentary system in vertebrates. The types of cells found in the layer are fibroblasts, adipose cells, and macrophages. The subcutaneous tissue is derived from the mesoderm, but unlike the dermis, it is not derived from the mesoderm's dermatome region. It consists primarily of loose connective tissue, and contains larger blood vessels and nerves than those found in the dermis. It is a major site of fat storage in the body. In arthropods, a hypodermis can refer to an epidermal layer of cells that secretes the chitinous cuticle. The term also refers to a layer of cells lying immediately below the epidermis of plants. Structure * Fibrous bands anchoring the skin to the deep fascia * Collagen and elastin fibers attaching it to the dermis * Fat is absent from the eyelids, clitoris, penis, much of pinna, and scrotum * Blood vessels on route to the der ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inverted Nipple
An inverted nipple (occasionally invaginated nipple) is a condition where the nipple, instead of pointing outward, is retracted into the breast. In some cases, the nipple will be temporarily protruded if stimulated. Both women and men can have inverted nipples. Causes The most common causes of nipple inversion include: * Born with condition * Trauma which can be caused by conditions such as fat necrosis, scars, or a result of surgery * Breast sagging, drooping or ptosis * Breast cancer **Breast carcinoma ** Paget's disease **Inflammatory breast cancer * Breast infections or inflammations **Mammary duct ectasia **Breast abscess **Mastitis * Genetic variant of nipple shape, such as: **Weaver syndrome **Congenital disorder of glycosylation type 1A and 1 L ** Kennerknecht-Sorgo-Oberhoffer syndrome * Gynecomastia * Recurrent infections * Tuberculosis Most common nipple variations that women are born with are caused by short ducts or a wide areola muscle sphincter. Inverted nipples ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmorphic Feature
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, Genetics, 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
