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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 (formerly 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 Clinical features depend on the molecular pathology of the particular CDG subtype. Common manifestations include |
Neurology
Neurology (from , "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine) , medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the nervous system, which comprises the Human brain, brain, the spinal cord and the peripheral nervous system , peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system, using various techniques of neurotherapy. IEEE Brain (2019). "Neurotherapy: Treating Disorders by Retraining the Brain". ''The Future Neural Therapeutics White Paper''. Retrieved 23.01.2025 from: https://brain.ieee.org/topics/neurotherapy-treating-disorders-by-retraining-the-brain/#:~:text=Neurotherapy%20trains%20a%20patient's%20brain,wave%20activity%20through%20positive%20reinforcement International Neuromodulation Society, Retrieved 23 January 2025 from: https://www.neuromodulation.com/ Val Danilov I (2023). "The O ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizure
A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, or consciousness. Symptoms vary widely. Some seizures involve subtle changes, such as brief lapses in attention or awareness (as seen in absence seizures), while others cause generalized convulsions with loss of consciousness ( tonic–clonic seizures). Most seizures last less than two minutes and are followed by a postictal period of confusion, fatigue, or other symptoms. A seizure lasting longer than five minutes is a medical emergency known as status epilepticus. Seizures are classified as provoked, when triggered by a known cause such as fever, head trauma, or metabolic imbalance, or unprovoked, when no immediate trigger is identified. Recurrent unprovoked seizures define the neurological condition epilepsy. Clinical features Seizur ... [...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 diopt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myopia
Myopia, also known as near-sightedness and short-sightedness, is an eye condition where light from distant objects 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 myopia is associated with an increased risk of macular degeneration, retinal detachment, cataracts, and glaucoma. Myopia results from 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 the use of cycloplegics during eye examination. Tentative evidence indicates that the risk of myopia can be decreased by having young children spend more time outside. This decrease in risk may be related to natural light exposure. Myopia can be corrected with eyeglasses, contact lenses, or by refractive surgery. Eyeglasses are the simplest and safest method of correction. Contact lenses can provide a rela ... [...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 cerebellum, cerebellar maldevelopment presenting as early-onset Non-progressive congenital ataxia, non–progressive congenital ataxia, hypotonia and Developmental coordination disorder, motor learning disability. Various causes have been identified, including heredity, hereditary, metabolism, metabolic, toxin, toxic and virus, 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 ... [...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 it is 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 medical diagnosis, 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 mus ... [...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 tissue, 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. This pericardial space contains a small amount of pericardial fluid, normally 15-50 mL in volume. The pericardium, specifically the pericardial fluid provides lubrication, maintains the anatomic position of the heart in the chest (levocardia), and also serves as a barrier to protect the heart from infection and inflammation in adjacent tissues and organs. By definition, a pericardial effusion occurs when the volume of fluid in the cavity exceeds the normal limit. If large enough, it can compress the heart, causing cardiac tamponade and obstructive shock. Some of the presenting symptoms are shortness of breath, chest pain, chest pressu ... [...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 ti ..., often as a so-called "Martius labial fat pad graft", which can be used, for example, in urethrolysis. *Fat pads within the heels which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subcutaneous Tissue
The subcutaneous tissue (), also called the hypodermis, hypoderm (), subcutis, or 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 (anatomy), 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 (botany), 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 (anatomy ... [...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 nippl ... [...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, 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] |
Failure To Thrive
Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. FTT is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight. The term "failure to thrive" has been used in different ways, as no single objective standard or universally accepted definition exists for when to diagnose FTT. One definition describes FTT as a fall in one or more weight centile spaces on a World Health Organization (WHO) growth chart depending on birth weight or when weight is below the 2nd percentile of weight for age irrespective of birth weight. Another definition of FTT is a weight for age that is consistently below the fifth percentile or weight for age that falls by at least two major percentile lines on a growth chart. While weight loss after birth is normal and most babies return to their birth weight by t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
