Clinical Theory and Skills EMIs
Michael Reilly, Bangaru Raju in Extended Matching Items for the MRCPsych Part 1, 2018
Chromosome 2.Chromosome 6.Chromosome 9.Cognitive impairment.Generalised anxiety disorder.Major depressive episode.Manic episode.Rapidly progressive dementia.Sensorimotor impairment.Slowly progressive dementia.
The genetics of bladder cancer
J. K. Cowell in Molecular Genetics of Cancer, 2003
It is notable that, although many hundreds of superficial papillary TCC samples have been analyzed, only LOH of chromosome 9 has been found at significant frequency. All other common genetic alterations are found predominantly in muscle-invasive TCC. As discussed above, chromosome 9 alterations are likely to occur early in TCC development. There is however, a clear distinction between those tumors with LOH (often loss of an entire copy of the chromosome) and those without. It is not yet known whether these constitute phenotypically distinct groups. Two studies of chromosome 9 status and propensity to recur present conflicting results (Bartlett et al., 1998; Pycha et al., 1997). Prediction of tumor recurrence is an important clinical issue and much time, expenditure and patient discomfort and anxiety will be avoided if this can be predicted accurately. Similarly, markers are needed to aid diagnosis and to provide non-invasive disease monitoring in this large patient group. The lack of known genetic or gene expression changes in this large group of tumors makes them good candidates for large scale genome and expression comparisons using microarray and proteomic approaches.
Station 2: History Taking
Saira Ghafur, Parminder K Judge, Richard Kitchen, Samuel Blows, Fiona Moss in The MRCP PACES Handbook, 2017
What is Friedreich’s ataxia? Autosomal recessive disorder; a trinucleotide repeat on chromosome 9.Degeneration of the spinocerebellar tract resulting in cerebellar signs.Corticospinal tract damage and peripheral nerve degeneration lead to absent ankle jerks with extensor plantars.Pes cavus, scoliosis and diabetes are common features. Other features include cardiomyopathy, cataracts and sensorineural deafness.Think of this in a younger patient.
Dysfunction of TRIM21 in interferon signature of systemic lupus erythematosus
Published in Modern Rheumatology, 2018
Reikou Kamiyama, Ryusuke Yoshimi, Mitsuhiro Takeno, Yasuhiro Iribe, Toshinori Tsukahara, Daiga Kishimoto, Yosuke Kunishita, Yumiko Sugiyama, Naomi Tsuchida, Hiroto Nakano, Kaoru Minegishi, Maasa Tamura, Yukiko Asami, Yohei Kirino, Yoshiaki Ishigatsubo, Keiko Ozato, Hideaki Nakajima
The type I IFN family is a large subgroup of IFN proteins, which have different roles for regulating activity of the immune system [39]. It comprises the proteins of multiple genes encoded on the short arm of human chromosome 9, including IFN-α, IFN-β, IFN-ε, IFN-κ, IFN-ω and IFN-υ. Among them, IFN-α has 13 isoforms. All these type I IFNs bind to a specific cell surface receptor, the IFN-α receptor (IFNAR) that consists of IFNAR1 and IFNAR2 chains, and activate JAK/STAT-signaling pathways, leading to transcription of IFN-inducible genes, otherwise known as ‘IFN signature’ [40]. Exhaustive analyses using microarray have revealed that enhanced expression of type I IFN-inducible genes are characteristic for PBMCs from SLE patients and that the intensity of ‘IFN signature’ is related to the disease activity [3,4]. The present study also showed the signature with increased TRIM21 mRNA expression levels, but not type I IFN themselves in PBMCs from SLE patients. In our study, qPCR did not detect increased mRNA expressions of IFN-α, which was assessed with a set of the primers detecting all of 13 isoforms, and IFN-β, though other type I IFNs including IFN-ε, IFN-κ, IFN-ω and IFN-υ were not examined. The results were consistent with some, but not all previous studies. In our study, immunosuppressive therapies might affect the expression level, though we did not find a clear relationship between treatments and the data. Otherwise, it is speculated that some of the type I IFN-inducible gene products mediate an intracellular feedback mechanism to turn off type I IFN transcription.
Chromosomal microarray analysis detects trisomy 9 mosaicism in a prenatal case not revealed by conventional cytogenetic analysis of cord blood
Published in Journal of Obstetrics and Gynaecology, 2019
Hai-Shen Tang, De-Gang Wang, Lv-Yin Huang, Dong-Zhi Li
The woman did not come back until 34 weeks of gestation, when she had preterm irritable uterine contractions and a reduced number of foetal movements. An ultrasound showed that the biometric measurements were at the fifth percentile with an amniotic fluid index of zero. A 1580 g male infant was then delivered by caesarean section, with Apgar scores of 7 and 9 at 1 and 5 minutes. The boy had facial dysmorphism with a bulbous nose, micrognathia, small palpebral fissures, low-set ears, flexion of the left middle finger and undescended testes. He was admitted to the neonatal intensive care unit (NICU) for supportive treatment. A repeat cytogenetic analysis of the newborn confirmed the karyotype of 47,XY +9[1]/46,XY[99] in the peripheral blood. However, CMA analysis of the peripheral blood using CytoScanTM 750 K Array (Affymetrix, Inc., Santa Clara, CA, USA) revealed a gene dosage increase in chromosome 9 with 60–70% trisomic chromosome (Figure 1(B)).
Interferon activation in primary Sjögren’s syndrome: recent insights and future perspective as novel treatment target
Published in Expert Review of Clinical Immunology, 2018
Iris L. A. Bodewes, Marjan A. Versnel
IFN was first described in 1957 as a factor capable to interfere with the proliferation of viruses [4]. IFNs are produced upon stimulation of the pattern-recognition receptors (PRRs) expressed by multiple immune and non-immune cells followed by the activation of innate and adaptive immunity. Three different types of IFNs have been described: type I, type II and type III. The type-I IFNs are the largest group and can be subdivided in 5 classes, including 12 IFN-α proteins, as well as IFN-β, IFN-ε, IFN-κ, and IFN-ω [5]. All these proteins are encoded by genes on chromosome 9. The plasmacytoid dendritic cell (pDC) can synthesize up to 109 IFN molecules within 24 h after stimulation and thereby is considered the most potent producer of type-I IFN [6]. Type-I IFNs bind to the receptor for type-I IFN (IFNAR) leading to upregulation of up to two thousand ISGs. Type-I IFN activity is commonly measured in patients with systemic autoimmune diseases using these ISGs to determine if patients have an ‘IFN signature’ or to calculate an IFN score. Type-II IFN (IFN-γ), and the more recently described type-III IFN (IFN-λ1, -λ2 and –λ3; also known as IL-29, IL-28A, and IL-28B), signal via different receptors and have a low degree of homology with type-I IFN. However, all these IFN types signal downstream of the different IFN binding receptors via the JAK-STAT pathway and induce largely overlapping genes [7–9]. IFN-γ is located on chromosome 12 and type-III IFN on chromosome 19.
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