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Rhombencephalosynapsis
Rhombencephalosynapsis is a rare genetic disorder, genetic brain abnormality of malformation of the cerebellum. The cerebellar vermis is either absent or only partially formed, and fusion is seen in varying degree between the cerebellar hemispheres, fusion of the middle cerebellar peduncles, and fusion of the dentate nucleus, dentate nuclei. Findings range from mild truncal ataxia, to severe cerebral palsy. Rhombencephalosynapsis is a constantly found feature of Gomez-Lopez-Hernandez syndrome. One case of which has shown a co-occurrence with autism-spectrum disorder. Presentation Indication (medicine), Clinical indications range from mild truncal ataxia with unaffected cognitive abilities, to severe cerebral palsy and intellectual disability. Genetics An association with mutations in the MN1 (gene), ''MN1'' gene has been reported in cases of atypical rhomboencephalosynapsis. Pathology Rhombencephalosynapsis is a rare brain disorder of malformation of the cerebellum that may be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MN1 (gene)
''MN1'' is a gene found on human Chromosome 22 (human), chromosome 22, with gene map locus 22q12.3-qter. Its official full name is meningioma (disrupted in balanced translocation) 1 because it is disrupted by a Chromosomal translocation, balanced translocation (4;22) in a meningioma. Function MN1 is a transcription coregulator that enhances or represses gene expression through direct or indirect interaction with the gene regulatory machinery. Reported interactions include the SWI/SNF, BAF (SWI/SNF) complex. nuclear receptor coactivator 3, RAC3 and EP300, p300. MN1 can act as a coactivator (genetics), coactivator of several transcription factors, including retinoic acid receptor, RAR/retinoid X receptor, RXR and the calcitriol receptor, vitamin D receptor. In AML, MN1 binds to genomic sites enriched for binding motifs of ETS factors as well as hematopoietic transcription factors such as RUNX1, GATA2, Hox gene, HOXA cluster genes, and MEIS1. MN1 induces a hematopoietic stem and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebellar Vermis
The cerebellar vermis (from Latin ''vermis,'' "worm") is located in the medial, cortico-nuclear zone of the cerebellum, which is in the posterior fossa of the cranium. The primary fissure in the vermis curves ventrolaterally to the superior surface of the cerebellum, dividing it into anterior and posterior lobes. Functionally, the vermis is associated with bodily posture and locomotion. The vermis is included within the spinocerebellum and receives somatic sensory input from the head and proximal body parts via ascending spinal pathways. The cerebellum develops in a rostro-caudal manner, with rostral regions in the midline giving rise to the vermis, and caudal regions developing into the cerebellar hemispheres. By 4 months of prenatal development, the vermis becomes fully foliated, while development of the hemispheres lags by 30–60 days. Postnatally, proliferation and organization of the cellular components of the cerebellum continues, with completion of the f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be Heredity, inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fetus
A fetus or foetus (; plural fetuses, feti, foetuses, or foeti) is the unborn offspring that develops from an animal embryo. Following embryonic development the fetal stage of development takes place. In human prenatal development, fetal development begins from the ninth week after fertilization (or eleventh week gestational age) and continues until birth. Prenatal development is a continuum, with no clear defining feature distinguishing an embryo from a fetus. However, a fetus is characterized by the presence of all the major body organs, though they will not yet be fully developed and functional and some not yet situated in their final anatomical location. Etymology The word ''fetus'' (plural ''fetuses'' or '' feti'') is related to the Latin '' fētus'' ("offspring", "bringing forth", "hatching of young") and the Greek "φυτώ" to plant. The word "fetus" was used by Ovid in Metamorphoses, book 1, line 104. The predominant British, Irish, and Commonwealth spelling is '' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum Disorder
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder, neurodevelopmental condition (or conditions) characterized by difficulties in Social relation, social interaction, verbal and nonverbal communication, and the presence of repetitive behavior and restricted interests. Other common signs include unusual responses to Multisensory integration, sensory stimuli. Autism is generally understood as a ''spectrum disorder'', which means that it can manifest differently in each person: any given autistic individual is likely to show some, but not all, of the characteristics associated with it, and the person may exhibit them to varying degrees. Some autistic people remain nonverbal autism, nonspeaking over the course of their lifespan, while others have relatively unimpaired spoken language. There is large variation in the level of support peop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alopecia
Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body. Typically at least the head is involved. The severity of hair loss can vary from a small area to the entire body. Inflammation or scarring is not usually present. Hair loss in some people causes psychological distress. Common types include male- or female-pattern hair loss, alopecia areata, and a thinning of hair known as telogen effluvium. The cause of male-pattern hair loss is a combination of genetics and male hormones; the cause of female pattern hair loss is unclear; the cause of alopecia areata is autoimmune; and the cause of telogen effluvium is typically a physically or psychologically stressful event. Telogen effluvium is very common following pregnancy. Less common causes of hair loss without inflammation or scarring include the pulling out of hair, certain medications including chemotherapy, HIV/AIDS, hypothyroidism, and malnutrition including iron defici ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Signs And Symptoms
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pain or pains in the body. Signs and symptoms Signs A medical sign is an objective observable indication of a disease, injury, or abnormal physiological state that may be detected during a physical examination, examining the patient history, or diagnostic procedure. These signs are visible or otherwise detectable such as a rash or bruise. Medical signs, along with symptoms, assist in formulating diagnostic hypothesis. Examples of signs include elevated blood pressure, nail clubbing of the fingernails or toenails, staggering gait, and arcus senilis and arcus juvenilis of the eyes. Indicati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Supratentorial Region
In anatomy, the supratentorial region of the brain is the area located above the tentorium cerebelli. The area of the brain below the tentorium cerebelli is the infratentorial region. The supratentorial region contains the cerebrum, while the infratentorial region contains the cerebellum. Although the Roman era anatomist Galen commented upon it, the functional significance of this neuroanatomical division was first described using ‘modern’ terminology by John Hughlings Jackson, founding editor of the medical journal, Brain. From extensive studies of anatomy and behaviour, Hughlings Jackson established the existence of a clear division of cognitive functionality located at or around the tentorium cerebelli. In his proposed scheme, while the supratentorial parts (mainly the cerebrum) were responsible for planning and control of movement in the world, the infratentorial parts (mainly the cerebellum) were responsible for planning and control of bodily motion per se. Most primary t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ventricular System
The ventricular system is a set of four interconnected cavities known as cerebral ventricles in the brain. Within each ventricle is a region of choroid plexus which produces the circulating cerebrospinal fluid (CSF). The ventricular system is continuous with the central canal of the spinal cord from the fourth ventricle, allowing for the flow of CSF to circulate. All of the ventricular system and the central canal of the spinal cord are lined with ependyma, a specialised form of epithelium connected by tight junctions that make up the blood–cerebrospinal fluid barrier. Structure The system comprises four ventricles: * lateral ventricles right and left (one for each hemisphere) * third ventricle * fourth ventricle There are several foramina, openings acting as channels, that connect the ventricles. The interventricular foramina (also called the foramina of Monro) connect the lateral ventricles to the third ventricle through which the cerebrospinal fluid can flow. Ventric ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ventriculomegaly
Ventriculomegaly is a brain condition that mainly occurs in the fetus when the lateral ventricles become dilated. The most common definition uses a width of the atrium of the lateral ventricle of greater than 10 mm. This occurs in around 1% of pregnancies. When this measurement is between 10 and 15 mm, the ventriculomegaly may be described as mild to moderate. When the measurement is greater than 15mm, the ventriculomegaly may be classified as more severe. Enlargement of the ventricles may occur for a number of reasons, such as loss of brain volume (perhaps due to infection or infarction), or impaired outflow or absorption of cerebrospinal fluid from the ventricles, called hydrocephalus or normal pressure hydrocephalus associated with conspicuous brain sulcus. Often, however, there is no identifiable cause. The interventricular foramen may be congenitally malformed, or may have become obstructed by infection, hemorrhage, or rarely tumor, which may impair the drainage ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hydrocephalus
Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased intracranial pressure, pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary incontinence, personality changes, or mental impairment. In babies, it may be seen as a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and Parinaud's syndrome, downward pointing of the eyes. Hydrocephalus can occur due to birth defects or be acquired later in life. Associated birth defects include neural tube defects and those that result in aqueductal stenosis. Other causes include meningitis, brain tumors, traumatic brain injury, intraventricular hemorrhage, and subarachnoid hemorrhage. The four types of hydrocephalus are communicating, noncommunicating, ''ex vacuo'', and normal pressure hydrocephalus, normal pressure. Diagnosis is typically made by physical examination and medic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aqueductal Stenosis
Aqueductal stenosis is a narrowing of the aqueduct of Sylvius which blocks the flow of cerebrospinal fluid (CSF) in the ventricular system. Blockage of the aqueduct can lead to hydrocephalus, specifically as a common cause of congenital and/or obstructive hydrocephalus. The aqueduct of Sylvius is the channel which connects the third ventricle to the fourth ventricle and is the narrowest part of the CSF pathway with a mean cross-sectional area of 0.5 mm2 in children and 0.8 mm2 in adults. Because of its small size, the aqueduct is the most likely place for a blockage of CSF in the ventricular system. This blockage causes ventricle volume to increase because the CSF cannot flow out of the ventricles and cannot be effectively absorbed by the surrounding tissue of the ventricles. Increased volume of the ventricles will result in higher pressure within the ventricles, and cause higher pressure in the cortex from it being pushed into the skull. A person may have aqueductal ste ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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