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Cranial Neuropathies II, III, IV, and VI
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Tanyatuth Padungkiatsagul, Heather E. Moss
Dominant optic atrophy usually presents in the first decade of life. Patients typically develop central visual field defects and visual acuity loss with normal peripheral vision. Vision loss progresses slowly and is usually not severe with visual acuity remaining 20/60 or better in 40% of the patients.46 The optic nerve develops a wedge-like atrophy with temporal loss of the neuroretinal rim. The disease has been linked to the long arm of chromosome 3. Currently, there is no known effective treatment.
Pediatric Oncology
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Stephen Lowis, Rachel Cox, John Moppett, Helen Rees
Deletion of 1p or gain of 1q and chromosome 3 are the most common abnormalities seen in malignant GCTs for both sexes.128 Isochromosome 12p and aneuploidy are common in adolescent boys, uncommon in early childhood.
Orotic aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The disease is also special as an example of a defect in a single autosomal recessive gene causing defective activity of two sequential enzymes in the de novo pathway of pyrimidine nucleotide biosynthesis (Figure 73.1), orotidylic (OMP) pyrophosphorylase (OPRT) (EC 2.4.2.10) and orotidylic (OMP) decarboxylase (EC 4.1.1.23) [4, 5]. The gene on chromosome 3 has been sequenced, and a small number of mutations has been defined [6].
The role of toll-like receptors (TLRs) in pan-cancer
Published in Annals of Medicine, 2022
Runzhi Huang, Zehui Sun, Shuyuan Xian, Dianwen Song, Zhengyan Chang, Penghui Yan, Jie Zhang, Huabin Yin, Zixuan Zheng, Peng Hu, Zhenyu Li, Dan Huang, Yihan Liu, Chenyang Jiang, Man Li, Siqi Li, Tong Meng, Daoke Yang, Zongqiang Huang
TLR9's performance, which is likewise a critical component of innate and adaptive immunity, is particularly notable in the overall analysis results. This gene is located on chromosome 3 at positions 52,221,080–52,226,163 and 52,255,096–52,273,183. In contrast to TLR4 and TLR7, TLR9 forms both monomers and homodimers on the membrane and functions as a nucleotide-sensing TLR. Unmethylated cytidine-phosphate-guanosine (CpG) motifs (CpG ODNs), a TLR9 agonist, can stimulate antitumor immunity by activating the NF-κB pathway [5,62–64], and increase tumour cell death via cell cycle S phase arrest triggered by phosphorylated CHK2 [65–69]. Additionally, TLR9's identification of DNA factions assists in initiating T lymphocyte, B lymphocyte, and dendritic cell proliferation, activation, survival, and antibody production [68–71].
Tebentafusp for the treatment of HLA-A*02:01–positive adult patients with unresectable or metastatic uveal melanoma
Published in Expert Review of Anticancer Therapy, 2022
Lanyi Nora Chen, Richard D. Carvajal
Although uveal melanoma (UM) is a rare disease with an incidence of 5.1 per million in the US, it comprises 85% of cases of primary ocular malignancies [1]. Local therapies, which include enucleation and globe-sparing approaches such as brachytherapy and proton beam therapy, effectively manage the primary tumor in over 95% of cases [2]. However, up to 50% of patients will develop metastatic disease, most commonly to the liver, lung, bone, and skin. The risk can be even higher based on certain clinical, cytogenetic, and molecular features [3,4] . The American Joint Committee on Cancer (AJCC) Tumor-Node-Metastasis (TNM) system, which uses tumor size, ciliary body involvement, and extraocular extension to categorize patients by stage, predicts an increased risk of metastasis in higher stage disease [5]. Five-year metastasis-free survival is estimated as 97% for stage I disease and 25% for stage IIIC disease [6]. Combining AJCC tumor classification with cytogenetics analysis improves prognostication [7]. The Cancer Genome Atlas (TCGA) Project classifies UM into class A, B, C, or D based on the presence or absence of chromosome 3 monosomy and chromosome 8q gain [8,9]. Class A patients, which show disomy 3 and 8, have the best prognosis while those with Class B, C, or D disease have increased risk of metastasis [8–10]. DecisionDx-UM, which is a 15-gene expression panel, uses next-generation sequencing to classify tumors as class 1 or class 2. Five-year risk of metastatic disease for class 2 tumors is over 70% [11].
Abnormal chromosomes identification using chromosomal microarray
Published in Journal of Obstetrics and Gynaecology, 2022
Yunfang Shi, Xiaozhou Li, Duan Ju, Yan Li, Xiuling Zhang, Ying Zhang
A 34-year-old multipara at a gestational age of 18 weeks was referred to our prenatal diagnosis centre for foetal evaluation. Her first child was 3 years old with mental retardation, facial dysmorphism and developmental delay. She had a spontaneous abortion in the first trimester previously. Nuchal translucency (NT) measurement and first trimester screening were within normal limits. Amniocentesis was performed at a gestational age of 20 weeks and foetal karyotype was 46,XX,der(3), which showed an unbalanced karyotype with extra chromosomal material in the short arm of chromosome 3. SNP-array from the amniotic fluid was performed to further analyse the additional materials of unknown origin. Subsequent SNP-array identified a deletion of approximately 8.4 Mb in chromosome 3p26.3p26.1 and a duplication of 19.7 Mb in chromosome 5q34q35.3. The deletion region contained 14 OMIM genes including ITPR1. The duplication region encompasses 99 OMIM genes including NKX2-5, MSX2 and NSD1. Based on SNP-array findings, the foetal karyotype was unbalanced. The derivative chromosome 3 with loss of the segment 3p26.3pter and gain of 5q34qter replaced a normal chromosome 3 (Figure 1, Table 1).