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Curry–Jones Syndrome
Curry–Jones syndrome is a rare genetic disorder characterized by congenital brain, osseous, cutaneous, ocular, and intestinal anomalies. Signs and symptoms Individuals with this condition usually have the following symptoms: * One-sided coronal craniosynostosis * Multiple suture synostosis * Agenesis of the corpus callosum that can either be complete or partial * Polysyndactyly, preaxial type * Hand/foot syndactyly * Pearl-white areas in the skin that are prone to scarring and suffer from atrophy * Eye, cheek, and limb hair growth abnormalities * Iris coloboma * Microphthalmia * Congenital short gut * Intestinal malrotation * Dysmotility * Chronic constipation * Intestinal bleeding * Myofibroma Some individuals may also display the following features: * Developmental delays * Variable intellectual disability * Intra-abdominal smooth muscle hamartomas * Skin trichoblastoma * Occipital meningoceles * Desmoplastic medulloblastoma Causes This condition is caused by mosaic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chronic Constipation
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day. Constipation has many causes. Common causes include slow movement of stool within the colon, irritable bowel syndrome, and pelvic floor disorders. Underlying associated diseases include hypothyroidism, diabetes, Parkinson's disease, celiac disease, non-celiac gluten sensitivity, vitamin B12 deficiency, colon cancer, diverticulitis, and inflammatory bowel disease. Medications associated with constipation include opioids, certain antacids, cal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 7
Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 160 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 7. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 7. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases are some of those related to gene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Missense Mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Missense mutations change amino acids, which in turn alter proteins and may alter a protein's function or structure. These mutations may arise spontaneously from mutagens like UV radiation, tobacco smoke, an error in DNA replication, and other factors. Screening for missense mutations can be done by sequencing the genome of an organism and comparing the sequence to a reference genome to analyze for differences. Missense mutations can be repaired by the cell when there are errors in DNA replication by using mechanisms such as DNA proofreading and DNA mismatch repair, mismatch repair. They can also be repaired by using genetic engineering technologies or pharmaceuticals. Some notable examples of human diseases caused by missense mutations are Rett syndrome, cystic fibrosis, and Sickle cell disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mosaic (genetics)
Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Mosaicism is one of several possible causes of chimerism, wherein a single organism is composed of cells with more than one distinct genotype. Genetic mosaicism can result from many different mechanisms including chromosome nondisjunction, anaphase lag, and endoreplication. Anaphase lagging is the most common way by which mosaicism arises in the preimplantation embryo. Mosaicism can also result from a mutation in one cell during development, in which case the mutation will be passed on only to its daughter cells (and will be present only in certain adult cells). Somatic mosaicism is not generally inheritable as it does not generally affect germ cells. History In 1929, Alfred Sturtevant studied mosaicism in '' Drosophila'', a genus of fruit f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medulloblastoma
Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the brain that is towards the back and the bottom, on the floor of the skull, in the cerebellum, or posterior fossa. The brain is divided into two main parts, the larger cerebrum on top and the smaller cerebellum below towards the back. They are separated by a membrane called the tentorium. Tumors that originate in the cerebellum or the surrounding region below the tentorium are, therefore, called infratentorial. Historically, medulloblastomas have been classified as a primitive neuroectodermal tumor (PNET), but it is now known that medulloblastoma is distinct from supratentorial PNETs and they are no longer considered similar entities. Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. Metastasis all the way d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trichoblastoma
Trichoblastomas are a Human skin, skin condition characterized by benign neoplasms of the Hair follicle, follicular germinative cells known as ''trichoblasts''. ''Trichoblastic fibroma'' is a term used to describe small Nodule (medicine), nodular trichoblastomas that contain a conspicuous Fibrocyte, fibrocytic component, sometimes constituting over 50% of the lesion. Image at left shows a trichoblastoma from a 68-year-old Caucasian male. It shows a pseudo-encapsulated, multinodular, basaloid tumor with fibrocellular stroma spanning the reticular dermis extending into subcutaneous fat (A). No epidermal connection or retraction artifact was noted. Tumor lobules were arranged as monomorphous basaloid cells in a cribriform pattern with peripheral palisading some resembling abortive hair follicles (B, F). Focally, tumor lobules exhibited squamous eddies, papillary mesenchymal bodies, and a germinative component comprising basaloid cells admixed with distinct pales cells (Zellballen) (C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hamartoma
A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell ( monoclonality), as would typically define a benign neoplasm/tumor. Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term ''hamartoma'' is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies. Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells. Many of these conditions are classified as overgrowth syndromes or cancer syndromes. Hamartomas occur in many different parts of the body and are most often ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Delays
Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development. There is usually a specific condition which causes this delay, such as cerebral palsy, Fragile X syndrome or other chromosomal abnormalities. However, it is sometimes difficult to identify this underlying condition. Other terms associated with this condition are failure to thrive (which focuses on lack of weight gain and physical development), intellectual disability (which focuses on intellectual deficits and the changes they cause to development) and developmental disability (which can refer to both intellectual and physical disability altering development). Causes Developmental delay can be caused by learning disabilities, in which case the delay can usually be overcome with time and suppo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infantile Myofibromatosis
Infantile myofibromatosis (IMF) is a rare tumor found in 1 in 150,000 to 1 in 400,000 live births. It is nonetheless the most common tumor derived from fibrous connective tissue that occurs primarily in infants and young children. IMF tumors are benign in the sense that they do not metastasize to distant tissues although when occurring in the viscera, i.e. internal organs, carry guarded to poor prognoses and can be life-threatening, particularly in newborns and young infants. The condition was first described by Arthur Purdy Stout as congenital generalized fibromatosis – in which he coined the word ''fibromatosis'' – in 1954. IMF tumors occur in three clinical patterns: 1) solitary IMF tumors (also called myofibromas) which often regress spontaneously and rarely cause serious issues; 2) multiple tumors (no viscera involvement) which consists of numerous (i.e. dozens to >100) IMF lesions most of which are located in the skin and subcutaneous tissues but not visceral organs, may ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intestinal Bleeding
Gastrointestinal bleeding (GI bleed), also called gastrointestinal hemorrhage (GIB), is all forms of bleeding in the gastrointestinal tract, from the mouth to the rectum. When there is significant blood loss over a short time, symptoms may include vomiting red blood, vomiting black blood, bloody stool, or black stool. Small amounts of bleeding over a long time may cause iron-deficiency anemia resulting in feeling tired or heart-related chest pain. Other symptoms may include abdominal pain, shortness of breath, pale skin, or passing out. Sometimes in those with small amounts of bleeding no symptoms may be present. Bleeding is typically divided into two main types: upper gastrointestinal bleeding and lower gastrointestinal bleeding. Causes of upper GI bleeds include: peptic ulcer disease, esophageal varices due to liver cirrhosis and cancer, among others. Causes of lower GI bleeds include: hemorrhoids, cancer, and inflammatory bowel disease among others. Small amounts of ble ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
