Relationship between visual field loss and maximal combined electroretinographic responses in retinitis pigmentosa : comparison among genetically different types

1984年から1996年までに千葉大学眼科を受診した定型網膜色素変性症228例について常優26例, 常劣64例, 孤発例138例に分け動的量的視野および網膜電図を検討した。Goldmann視野におけるV-4イソプターでは5から10cm^2までと150から250cm^2までの2群に別れ, 1-4イソプターでは5cm^2以下の群のみ認められた。加齢及び遺伝形式による差異は認められなかった。網膜電図ではa, b波ともに正常対照群より減少してはいるものの, 遺伝形式による差異は認められなかった。また, 網膜電図で振幅を認められる割合はV-4イソプターおよびI-4イソプターの面積と相関していることが示唆されたが, 遺伝形式による差異は認められなかった。網膜電図の振幅の比であるb/a比は正常対象群に対して疾患群は減少していたが, 常備は特に他に比べ有意に減少していた。定型網膜色素変性症の網膜電図や視野の検討は数多くなされてきたが, b/a比について統計的考察がなされてきたことはない。a波およびb波は組織学的に発生起源が異なっており, b波はa波のインパルスによって二次的に引き起こされることは以前より知られてきている。網膜電図において常備のb/a比が有意な低下を示すことは, 網膜障害の機序が他と異なる可能性が示唆された。Analyses were performed on 228 Japanese patients with retinitis pigmentosa (RP) who were classified with autosomal dominant (ADRP, n=26), autosomal recessive (ARRP, n=64), and simplex (simplex RP, rc=138) inheritance. Visual fields were tested with Goldmann perimetry. Maximal combined responses of electroretinogram (ERG) with 20-Joule white flash stimulation were recorded after dark adaptation for 20 minutes. The visual field with the V-4 isopter demonstrated two unique groups, represented by dense areas between 5 and 10cm^2 and between 150 and 250cm^2, while only one unique group was observed within the 5cm^2 area with the 1-4 isopter. No age or inheritance type of effect was seen. A-and b-wave amplitudes were equally low in the 3 groups, as compared with normal subjects. The b/a ratio was significantly smaller in the ADRP group, compared with the others. The rate of detectable ERG responses decreased as the visual field became smaller. There was no inheritance effect. A lower b/a ratio in ADRP patients suggested that retinal functional abnormalities differed from ARRP and simplex RP patients

Additional file 1: Table S1. of Non-coding single nucleotide variants affecting estrogen receptor binding and activity

The list of all ER ChIP-seq datasets in breast cancer. Table S2. List of E2-regulated genes common in vitro, in vivo, and TCGA. Table S3. List of the studies used for the identification of E2-regulated genes. Table S4. Primer sets used for different assays. Table S5. The list of regulatory SNVs in MCF7 Cell line. Table S6. The list of regulatory SNVs in BT474 cell line. Table S7. The list of regulatory SNVs in MDA-MB-134 cell line. Table S8. The list of regulatory SNVs in T47D cell line. Table S9. The list of regulatory SNVs in TAMR cell line. Table S10. The list of regulatory SNVs in ZR75 cell line. Table S11. The list of regulatory SNVs in good prognosis tumors. Table S12. The list of regulatory SNVs in bad prognosis tumors. Table S13. The list of regulatory SNVs in metastatic tumors. Table S14. The allele frequency of top RegSNVs in ER-binding sites with sufficient coverage. (XLSX 3641 kb

Additional file 2: Figure S1. of Non-coding single nucleotide variants affecting estrogen receptor binding and activity

The UCSC gnome browser view of the second intron in IGF1R gene. The index SNP, rs62022087, seems to be located in a region bound by several chromatin-modifying factors based on ENCODE data. Figure S2. The visualization of ChIP-seq reads from multiple cell lines over rs62022087 SNP site in two individual studies: (A) Hurtado et al. {Hurtado, 2011 #23}, (B) Joseph et al. {Joseph, 2010 #15}. Figure S3. The distribution of RegSNVs over the gnome across a panel of breast cancer cell lines, good and bad prognosis tumors. The binding sites from different ER ChIP-seq datasets were extracted and annotated based on their location in the genome. The majority of the binding sites are located in the intergenic and intronic areas. (DOCX 384 kb

Systematic Review and Meta-Analysis on the Role of Chemotherapy in Advanced and Metastatic Neuroendocrine Tumor (NET)

<div><p>Background/Objectives</p><p>In the era of somatostatin analogues and targeted therapies, the role of chemotherapy in NET remains largely undefined. This systematic review aimed to assess the effect of chemotherapy on response rates (RR), progression-free survival (PFS), overall survival (OS) and toxicity compared to other chemotherapies/systemic therapies or best supportive care in patients with advanced or metastatic NET.</p><p>Methods</p><p>Randomised controlled trials (RCTs) from 1946 to 2015 were identified from MEDLINE, EMBASE, other databases and conference proceedings. Review of abstracts, quality assessment and data abstraction were performed independently by two investigators. Meta-analyses were conducted using Mantel-Haenszel analysis with random-effects modelling.</p><p>Results</p><p>Six RCTs comparing standard streptozotocin plus 5-fluorouacil (STZ/5FU) chemotherapy to other chemotherapy regimens, and 2 comparing this to interferon (IFN) were included. Only 1 study was considered at low risk of bias. STZ/5-FU was no different to other chemotherapies in response rate [RR 0.96; 95% confidence interval (CI) 0.72–1.27], PFS (RR 0.95; CI 0.81–1.13), or OS (RR 1.03; CI 0.77–1.39). IFN may produce higher response than STZ/5FU (RR 0.20; CI 0.04–1.13), but event rates were small and survival was no different. Interferon was associated with higher overall haematological (RR 0.47; CI 0.27–0.82) and lower overall renal toxicity (RR 3.61; CI 1.24–10.51).</p><p>Conclusion</p><p>Strong evidence is lacking in the area of chemotherapy in neuroendocrine tumors. There is currently no evidence that one chemotherapeutic regimen is significantly better than the other, nor is interferon better than chemotherapy. There is an urgent need to design RCTs comparing modern chemotherapy to other agents in NET.</p></div

Forest plot of comparison 3: 1-Year Overall Survival, STZ+5FU versus chemotherapy or IFN.

<p>Forest plot of comparison 3: 1-Year Overall Survival, STZ+5FU versus chemotherapy or IFN.</p

Forest plot of comparison 1: Response Rate STZ+5FU versus chemotherapy of IFN.

<p>Forest plot of comparison 1: Response Rate STZ+5FU versus chemotherapy of IFN.</p

Forest plot of comparison 4: Overall Survival upon completion of follow up, STZ+5FU versus chemotherapy or IFN.

<p>Forest plot of comparison 4: Overall Survival upon completion of follow up, STZ+5FU versus chemotherapy or IFN.</p

Flow diagram of study selection.

<p>Flow diagram of study selection.</p

Median Progression-free and Overall Survival.

<p>Median Progression-free and Overall Survival.</p

Additional file 12: of The molecular landscape of premenopausal breast cancer

Supplementary methods. This file contains additional details of the analyses. (DOCX 36 kb