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Gillespie Syndrome
Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965. Presentation The combination of muscular hypotonia and fixed dilated pupils in infancy is suspicious of Gillespie syndrome. Early onset partial aniridia, cerebellar ataxia, and mental retardation are hallmark of syndrome. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. The aniridia consisting of a superior coloboma and inferior iris hypoplasia, foveomacular dysplasia. Atypical Gillespie syndrome associated with bilateral ptosis, exotropia, correctopia, iris hypoplasia, anteri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Archives Of Ophthalmology
''JAMA Ophthalmology'' (formerly ''Archives of Ophthalmology'') is a monthly peer-reviewed medical journal covering all aspects of ophthalmology. The editor-in-chief is Neil M. Bressler (Johns Hopkins School of Medicine). It is published by the American Medical Association, with which it has been affiliated since 1929. History The journal was established in New York in 1869 as the ''Archives of Ophthalmology and Otology'', with a simultaneous German language version published in Karlsruhe, Germany, as ''Archiv für Augen- und Ohrenheilkunde''; sometimes articles would be slightly different. The editors were Hermann Knapp (New York), who practiced both ophthalmology and otology, with greater emphasis on the eye, and the otologist Salomon Moos (Heidelberg). The journal obtained its current name in 2013. Naming History Abstracting and indexing The journal is abstracted and indexed in: According to ''Journal Citation Reports'', the journal has a 2021 impact factor of 8.253, ran ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ITPR1
Inositol 1,4,5-trisphosphate receptor type 1 is a protein that in humans is encoded by the ''ITPR1'' gene. Interactions ITPR1 has been shown to interact with: * AHCYL1, * CA8, * EPB41L1 * FKBP1A, * MRVI1, * PRKG1, * RHOA, and * TRPC4. See also * Inositol triphosphate * Inositol triphosphate receptor Inositol trisphosphate receptor (InsP3R) is a membrane glycoprotein complex acting as a Ca2+ channel activated by inositol trisphosphate (InsP3). InsP3R is very diverse among organisms, and is necessary for the control of cellular and physiol ... References Further reading * * * * * * * * * * * * * * * * * * External links * GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 15 {{Ion channels, g1 Ion channels ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Eye
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Disorders
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cortex (journal)
''Cortex'' is a scientific journal published semimonthly by Elsevier. It is devoted to the study of "cognition and of the relationship between the nervous system and mental processes". The journal was founded in 1964 and is currently edited by Sergio Della Sala Sergio Della Sala FRSE, FRSA, FBPsS (born 23/09/1955), trained as Medical Doctor, Clinical Neurologist and Neuropsychologist. He studied at University of Milan, University of Berkeley, MRC in Cambridge (UK). He held positions in Milan, Perth .... Currently, S. Della Sala and J. Grafman are editors of the journal. External links Cortex Online {{DEFAULTSORT:Cortex (Journal) Neuroscience journals Cognitive science journals Publications established in 1964 English-language journals Elsevier academic journals Neuropsychology journals ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Journal Of Ophthalmology
''American Journal of Ophthalmology'' is a monthly peer-reviewed medical journal covering ophthalmology. It was established in 1884 and is published by Elsevier. The editor-in-chief is Richard K. Parrish II (Bascom Palmer Eye Institute). Indexing and abstracting The journal is indexed and abstracted in the following databases: See also *''British Journal of Ophthalmology'' *''Ophthalmology Ophthalmology ( ) is a surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a medic ...'' References External links * Ophthalmology journals Elsevier academic journals English-language journals Publications established in 1884 Monthly journals {{med-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Journal Of Medical Genetics
''American Journal of Medical Genetics'' is a peer-reviewed medical journal dealing with human genetics Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population gene ... published in three separate sections (parts) by Wiley-Liss: * ''American Journal of Medical Genetics Part A'' * ''American Journal of Medical Genetics Part B: Neuropsychiatric Genetics'' * ''American Journal of Medical Genetics Part C: Seminars in Medical Genetics'' Until 1996 they were one journal under the name ''American Journal of Medical Genetics'', when they split into Part A and Part B. Part C was established in 1999. Tuesday, 6 December 2016 Part A of the journal focuses on specific domains within the discipline of medical genetics. Specifically, it is focused on the study of the cause and pathogenesis (including molecul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Medicine & Child Neurology
''Developmental Medicine and Child Neurology'' is a monthly peer-reviewed medical journal covering pediatric neurology and developmental medicine. The journal is published by Mac Keith Press and distributed on their behalf by Wiley-Blackwell. It is an official journal of both the American Academy for Cerebral Palsy and Developmental Medicine, the British Paediatric Neurology Association, the British Academy of Childhood Disability, the European Academy of Childhood Disability and the Academia Mexicana para la Paralisis Cerebral y Transtornos del Neurodesarollo. It was established in 1958 and the editor-in-chief is Bernard Dan. The North American Editor is Peter Rosenbaum. According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Archives De Pédiatrie
An archive is an accumulation of historical records or materials – in any medium – or the physical facility in which they are located. Archives contain primary source documents that have accumulated over the course of an individual or organization's lifetime, and are kept to show the function of that person or organization. Professional archivists and historians generally understand archives to be records that have been naturally and necessarily generated as a product of regular legal, commercial, administrative, or social activities. They have been metaphorically defined as "the secretions of an organism", and are distinguished from documents that have been consciously written or created to communicate a particular message to posterity. In general, archives consist of records that have been selected for permanent or long-term preservation on grounds of their enduring cultural, historical, or evidentiary value. Archival records are normally unpublished and almost alway ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinocerebellar Ataxia
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder. Signs and symptoms Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements. A review of different clinical features among SCA subtypes was recently published describing the frequency of non-cerebellar featu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
