Reactive arthritisReiter'sChromosomesDisordersGenomicMutationsAutosomal dominantSpondyloarthritisBreakpointsMyeloproliferativeDevelopmentalDiseasesVariantsFGFR1AngelmanUltimately lead to geneSymptomsCellularInheritanceConjunctivitisGeneticLeukemiaAutismAtypicalChronicInteractionsCharacteristicClinicalDiagnosticDuplicationDiseaseLong-termSurvivalTypeClassificationMultipleChildrenCommonlyDisorder
Reactive arthritis9
- Reactive arthritis, also known as Reiter's syndrome, is a form of inflammatory arthritis that develops in response to an infection in another part of the body (cross-reactivity). (wikipedia.org)
- The term "reactive arthritis" is increasingly used as a substitute for this designation because of Hans Reiter's war crimes with the Nazi Party. (wikipedia.org)
- Ocular involvement (mild bilateral conjunctivitis) occurs in about 50% of men with urogenital reactive arthritis syndrome and about 75% of men with enteric reactive arthritis syndrome. (wikipedia.org)
- Reactive arthritis (previously Reiter's syndrome). (healthline.com)
- This form of reactive arthritis previously was called Reiter syndrome. (msdmanuals.com)
- 2) reactive arthritis (known previously as Reiter's syndrome ) 3) psoriatic arthritis and psoriatic spondylitis, and 4) the arthritis or spondylitis associated with the inflammatory bowel diseases, ulcerative colitis and Crohn's disease. (reumatologosdeelsalvador.com)
- Reactive arthritis, formerly known asReiter's syndrome,is a condition that causes inflammation (redness and swelling)in variousplaces inthe body. (zana.com)
- People who have a certain gene called HLA-B27, which is found in around one in every 10 people in theUK,are about thought to be around 50 times more likely to develop reactive arthritis than those who don't have this gene. (zana.com)
- Reactive arthritis, formerly known as Reiter's syndrome, is a condition that causes inflammation (redness and swelling) in various places in the body. (zana.com)
Reiter's1
- this has been called Reiter's syndrome, Reiter's disease or Reiter's arthritis. (wikipedia.org)
Chromosomes2
- The stretch of chromosome 15 implicated in Angelman syndrome and 15q duplication syndrome is known to be heavily imprinted, meaning that copies of various genes are turned on or off on one of the two chromosomes in a highly choreographed manner. (spectrumnews.org)
- X-linked recessive - Disorders caused by mutations on genes on the X chromosomes. (assistedfertility.com)
Disorders10
- Cytogenetic studies detect the presence or absence of the Philadelphia chromosome and help to differentiate myeloproliferative disorders from myelodysplastic syndrome. (medscape.com)
- The clinical features of muscle stiffness in SJS type I somewhat resemble those seen in myotonic disorders, stiff person syndrome, and Isaacs syndrome. (medscape.com)
- Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among them. (ijo.in)
- The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. (biomedcentral.com)
- Break point: Genes implicated in several disorders associated with autism cluster in the same region on chromosome 15. (spectrumnews.org)
- The differential diagnosis includes syndromes of low gonadotropin production, usually constitutional delay of growth and maturation associated with chronic disease, but also an array of gene-mediated disorders, and syndromes of primary gonadal dysfunction with hypergonadotropic hypogonadism, including Turner and Klinefelter syndromes, and a group of acquired and genetic abnormalities. (nih.gov)
- Autosomal Dominant - Disorders caused by one mutated copy of a gene. (assistedfertility.com)
- Autosomal Recessive - Disorders caused by two mutated copies of a gene. (assistedfertility.com)
- X-linked dominant - Disorders caused by mutations in genes located on the X chromosome. (assistedfertility.com)
- Multifactorial - Disorders caused by a combination of the effects of multiple genes or by interactions between genes and the environment. (assistedfertility.com)
Genomic3
- The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome. (nih.gov)
- Rare genetic and genomic syndromes have provided insights into the molecular, cellular and circuit changes that underlie autism and associated developmental delay syndromes. (biomedcentral.com)
- Our lab is dually computational and experimental - we develop advanced algorithms and analyses using shotgun metagenomic sequencing data for the purpose of reconstructing the structure and dynamics of microbial communities, and we complement our genomic predictions with in vitro and in vivo experiments to investigate gene function, visualize microbes, or test mechanism of action. (jax.org)
Mutations3
- SJS types IA and IB derive from mutations of the same gene, the HSPG2 gene, which codes for perlecan, a heparin sulfate proteoglycan. (medscape.com)
- Mutations in the tumor suppressor genes encoding TSC1 (Hamartin) and TSC2 (Tuberin) cause a multisystemic tumor syndrome termed tuberous sclerosis complex (TSC). (springer.com)
- Hereditary Breast/Ovarian Cancer - Mutations in BRCA1 or BRCA2 genes predispose to breast cancer and ovarian cancer as well as prostate cancer (BRCA1) and other cancers (BRCA2). (assistedfertility.com)
Autosomal dominant2
- When a person carries an autosomal dominant gene mutation, each of his/her offspring has a 50% chance for inheriting the gene mutation. (assistedfertility.com)
- Hereditary non-polyposis colorectal cancer - Hereditary non-polyposis colon cancer (HNPCC) is caused by an autosomal dominant inherited gene mutation. (assistedfertility.com)
Spondyloarthritis2
- Overview of Spondyloarthritis Spondyloarthritis (also called spondyloarthropathy or spondyloarthritides) is a term used to describe a group of diseases that cause prominent joint inflammation, affect the spine and other. (msdmanuals.com)
- Family members of patients with spondyloarthritis run the highest risk of contracting these diseases, particularly those with HLA genes. (reumatologosdeelsalvador.com)
Breakpoints1
- All of these genes cluster between breakpoints 2 and 3 in the 15q11-13 region. (spectrumnews.org)
Myeloproliferative1
- MLN with FGFR1 rearrangement was previously known as 8p11 myeloproliferative syndrome [ 14 ]. (nature.com)
Developmental1
- Loss of the maternal copy of UBE3A causes Angelman syndrome , a developmental disorder characterized by arrested cognitive and language development. (spectrumnews.org)
Diseases2
- The long-term goal of our research program is to create new microbiome-based therapeutics for skin disease, with implications for a wide range of inflammatory diseases. (jax.org)
- aging, skin disease, infectious disease, skin cancer, immunotherapy response and immunotherapy-associated side effects, chronic fatigue syndrome and other pro-inflammatory diseases. (jax.org)
Variants4
- Several transcript variants encoding the same protein have been found for this gene. (nih.gov)
- Missense variants in COL4A genes are often found in patients with an Alport syndrome-like presentation, but their pathogenicity is not always clear. (stanford.edu)
- We employed targeted sequencing to search for pathogenic variants in COL4A and other relevant genes. (stanford.edu)
- The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein gene. (uliege.be)
FGFR12
- The defining cytogenetic abnormality, a translocation at the 8p11 locus, was found to involve the FGFR1 gene [ 14 ]. (nature.com)
- Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). (nih.gov)
Angelman2
- Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. (biomedcentral.com)
- ATP10 and GABRB3 are located near UBE3A and may also be involved in both Angelman and 15q duplication syndromes. (spectrumnews.org)
Ultimately lead to gene2
- Upon binding to their receptors, cytokines activate JAKs which then phosphorylate the cytokine receptor, thereby creating docking sites for signaling molecules, notably, members of the signal transducer and activator of transcription (STAT) family that ultimately lead to gene expression. (justia.com)
- Cytokines act by binding with high affinity and specificity to cell surface receptors, triggering signal transduction pathways that ultimately lead to gene activation cascades that regulate cellular activation, differentiation, proliferation and survival. (mountsinai.org)
Symptoms4
- The classical presentation of the syndrome starts with urinary symptoms such as burning pain on urination (dysuria) or an increased frequency of urination. (wikipedia.org)
- 6 With regard to clinical trials, PLAYGAME (Post-Concussion Syndrome in Youth-Assess the GABAergic Effects of Melatonin) is a randomized controlled study currently underway that is investigating the effects of nightly sublingual melatonin supplementation (3 or 10 mg) on post-concussion symptoms in young people aged between 13 and 18 years. (restorativemedicine.org)
- A new mouse model of 15q duplication syndrome, a genetic disorder associated with autism, falls short of recapitulating the symptoms of the syndrome. (spectrumnews.org)
- In addition to autism, people with the syndrome have moderate to profound cognitive impairment, language and motor disabilities, poor muscle tone, slightly abnormal facial features, seizures and other symptoms. (spectrumnews.org)
Cellular2
- We find that in patDp/+ mice delay eyeblink conditioning-a form of cerebellum-dependent motor learning-is impaired, and observe deregulation of a putative cellular mechanism for motor learning, long-term depression (LTD) at parallel fibre-Purkinje cell synapses. (nature.com)
- In summary, our results support distinct functions of Tsc1 and Tsc2 in cellular signaling as the two genes affect ciliary length control and HH signaling via different mechanisms. (springer.com)
Inheritance1
- The disease mapped to at least twenty different genes (BBS1-BBS20), follow oligogenic inheritance pattern. (ijo.in)
Conjunctivitis1
- Numerous cases during World Wars I and II focused attention on the triad of arthritis, urethritis, and conjunctivitis (often with additional mucocutaneous lesions), which at that time was also referred to as Fiessenger-Leroy-Reiter syndrome. (wikipedia.org)
Genetic2
- We hypothesized that this patient's kidney disease was within the spectrum of Alport syndrome.We used histologic, genetic, and biochemical approaches to investigate the mechanisms of kidney disease. (stanford.edu)
- But they found that the extra genetic material caused the maternal copy of the gene to "act like a paternal allele," according to the mouse's creator, Shin-ichi Horike , assistant professor of molecular biology at Kanazawa University. (spectrumnews.org)
Leukemia1
- It is now known that type II relates to a mutation in a different gene, the gene for the leukemia inhibitory factor receptor ( LIFR ). (medscape.com)
Autism2
- Small-scale studies suggest that long-term melatonin supplementation safely and effectively treats sleep onset insomnia in children with attention-deficit hyperactivity disorder (ADHD) and/or autism spectrum disorder (ASD). (restorativemedicine.org)
- For example, both Fragile X and Rett syndrome have elucidated atypical biology associated with autism and have led to novel neurobiologically-based clinical trials. (biomedcentral.com)
Atypical1
- These data suggest that the COL4A4-G394S variant is pathogenic and causes an atypical mild form of autosomal recessive Alport syndrome. (stanford.edu)
Chronic1
- Arthritis and osteoporosis are both chronic, long-term conditions that affect your bones. (healthline.com)
Interactions1
- However, creating a mouse model for the duplication is challenging because the target region in humans is more than six million nucleotides long, and must stay intact during cell division in order to preserve its gene interactions. (spectrumnews.org)
Characteristic1
- Inherited - A disease or characteristic that is transmitted through genes from parents to offspring. (assistedfertility.com)
Clinical2
- Here we propose comprehensive response criteria based on the heterogenous clinical presentations of patients with MLN with eosinophilia and tyrosine kinase gene fusions. (nature.com)
- This paper is a brief review of the clinical indications, side effects, and potential long-term implications of supplementing melatonin in children. (restorativemedicine.org)
Diagnostic1
- Nouveautés dans le diagnostic et la prise en charge des complications en lien avec l'acromégalie. (uliege.be)
Duplication1
- Anderson is working on his own mouse model of the 15q duplication syndrome, and plans to present his findings in November at the Society for Neuroscience's annual meeting in Washington, D.C. (spectrumnews.org)
Disease4
- This is the same disease as Stuve-Wiedemann syndrome, which has been known separately, mainly in the rheumatologic and orthopedic literature, rather than the neurologic literature. (medscape.com)
- Compared to people without the HLA-B27 gene, people with the HLA-B27 gene have more severe disease, including arthritis, that lasts longer. (msdmanuals.com)
- Postpone elective surgery until long-term control of the disease is established. (medscape.com)
- May be seen in more serious systemic and local illnesses together with Sutton’s illness, Bechet’ s disease, Reiter’s syndrome, leukopenias, Crohn’s disease and ulcerative colitis (see index). (ehd.org)
Long-term7
- DHEA is possibly unsafe when used in high doses or long-term. (medlineplus.gov)
- Using higher doses or using it long-term can increase the risk of serious side effects including cancer. (medlineplus.gov)
- Type IB is apparent immediately at birth and is clinically more severe, although it is typically compatible with life and even long-term survival. (medscape.com)
- Long-term survivors are rare but do exist, including 2 survivors, ages 3 and 12 years, reported on by Di Rocco et al in 2003. (medscape.com)
- Joint pain typically goes away within weeks to months with no long term complications. (healthline.com)
- The long-term risks of polycythemia vera (PV) include leukemic and fibrotic transformation, which occur in fewer than 5% and 10% of patients, respectively, at 10 years. (medscape.com)
- It usually develops following an infection, and in most cases clears up in a few months withoutcausing long-term problems. (zana.com)
Survival1
- The frequencies and numbers of TIL-B clonotypes in individual repertoires were correlated with patient survival, gene-expression profiling (GEP) data, and frequencies of DLBCL-infiltrating immune cells quantified by fluorescent multiplex immunohistochemistry at single-cell resolution. (bvsalud.org)
Type2
- Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different inherited, autosomal recessive conditions, sometimes termed SJS type I and SJS type II. (medscape.com)
- More frequent screening may be needed for complications, including neuropathy-related dry eye syndrome, IOP changes, and diabetic retinopathy in children with Type 1 DM. (ijo.in)
Classification1
- In the recent fifth edition of the World Health Organization classification, similar to the recent update to the International Consensus Classification, the category was renamed to "myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions" and both classifications added novel subtypes with new JAK2 rearrangements (e.g. (nature.com)
Multiple1
- Multiple genes in the region , working either singly or in combination, are thought to give rise to the disorder. (spectrumnews.org)
Children2
- 2) Individuals with sporadic retinoblastoma do not pass their genes to their children. (examyear.com)
- Females who carry an X-linked recessive gene mutation have a 50% chance to pass it on to each of her children. (assistedfertility.com)
Commonly1
- It has been over 30 years since Reaven first described metabolic syndrome, which commonly affects overweight individuals ( 1 ). (frontiersin.org)
Disorder2
- Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. (biomedcentral.com)
- Bacterial overgrowth syndrome is a superficial cutaneous disorder, associated with an overgrowth of S pseudintermedius and characterized by large numbers of bacteria, erythema, pruritus, and malodor. (todaysveterinarypractice.com)