133 Matching Annotations
  1. Jun 2022
  2. May 2022
    1. DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre

      Gene: DICER1 PMCID: PMC8451242 PMID: 34552563 Pathogenic Inheritance Pattern: Autosomal Dominant MultipleDiseaseEntities Disease Entity: DICER1 syndrome, multinodular goitre, cystic nephroma, anaplastic renal sarcoma, Wilms tumour, differentiated thyroid carcinoma, gynandroblastoma, ciliary body medulloepithelioma, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, kidney cyst, pulmonary cyst, Sertoli-Leydig Cell Tumor. Mutation: Germline MultipleGeneVariants Variant & Clinvar IDs: c.3452_3453del (485534), c.316del (no ClinVar ID), c.171_172insAC (no ClinVar ID), c.3434del (no ClinVar ID), c.988C>T (933007), c.5388dup (no ClinVar ID) Zygosity: None provided. Case: At time of operation, the goitre patients living in Denmark were ages 21, 12, 21, 8, 14, and 16. Four underwent total thyroidectomies, and two underwent partial thyroidectomies. The patient originally aged 21 previously had a kidney cyst at age 14 and a pulmonary cyst at an unknown age. The patient aged 14 at time of partial thyroidectomy later manifested a Sertoli-Leydig Cell Tumor at age 15. All six patients were female. CasePresentingHPO: None provided. CasePreviousTesting: thyroidectomy gnomAD: ENSG00000100697.10, https://gnomad.broadinstitute.org/gene/ENSG00000100697 Mutation Type: Frameshift, Nonsense

    1. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types.

      GeneName: DICER1 PMID: 29762508 HGNCID: N/A Inheritance Pattern: Autosomal dominant Disease Entity: Cancer Mutation: Germline Zygosity: Heterozygosity Variant: Unregistered Family Information: 12% of children with pleuropulmonary blastomas have cystic nephromas Case: 11 year old patient with Hodgkin lymphoma with DICER1 mutation in 2016.

    2. GeneName: DICER1 syndrome (pleuropulmonary blastoma familial tumor susceptibility syndrome), PMID (PubMed ID): 29762508, HGNCID: 17098, Inheritance pattern: autosomal-dominant disease, Disease entity: Plueropulomary Blastoma, Mutation: Somatic, Zygosity: heterozygous, Variant: multiple variants, Family information: NA, Case: young children, CasePresentingHPO: N/A, CasePreviousTesting: N/A, Gnomade #: N/A , Mutation type: deletion

    1. DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene.

      GeneName: DICER1 PMID: 33552988 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant with reduced penetrance Disease Entity: Cystic nephroma, familial pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumor (SLCT), cervix embryonal rhabdomyosarcoma, multinodular goiter, Wilms' Tumor, Ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, sarcomas of different sites. Mutation: germline mutation Zygosity: heterozygous Variant: ClinVar ID not listed Family Information: No family cases listed Case: No specific case mentioned gnomAD: N/A Mutation Type: Frameshift, Nonsense mutation

  3. Apr 2022
    1. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer

      GeneName: DICER1 PMID: 29762508 HGNCID: Can't find Inheritance: Autosomal Dominant Disease Entities: Endocrine and Reproductive Tumors Mutation: Somatic and germline Zygosity: Heterozygous Mutant: Can't find Family: Can't find

    2. The DICER1 gene, located on chromosome 14, position q32.13, encodes the endoribonuclease Dicer protein of the ribonuclease III family

      GeneName: Dicer1 PMID (PubMedID): 29782508 HGNCID= Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: cancer, multinodular goiter, pleuropulmonary blastoma, cystic nephroma, and ovarian Sertoli-Leydig Cell Tumor Mutation: germline or somatic Zygosity: causes loss of heterozygosity Variant: unregistered Family: those that have the mutation almost always pass it on.

    3. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types

      GeneName: DICER1 PMID (PubMed ID): 29762508 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: cancer, rare genetic disorder, pleuroplumonary blastomas, cystic nephroma, rhabdomyosarcoma, multinodular goiter, thyroid cancer, overian Sertoli-Leydig cell tumors, and other meoplasias Mutations: Germline mutations or Somatic mutations Zygosity: Heterozygosity Variant: unregistered Family Information: Cystic nephromas has been reported in approximately 12% of children with pleuripulmonary blastomas or those with a family member with cystic nephroma. Patient with two DICER1 mutations and several of his family members shared these mutations. All members developed a least one type of tumor with differing origins. The patient was an 11-year old boy with a rare Hodgkin lymphoma with DICER1 in 2016. (c.5299delC and c.4616C>T).

    4. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types.

      GeneName = DICER1 PMID = 29762508 HGNCID = Can't find Inheritance pattern = Autosomal dominant Disease entity = cancer, multinodular goiter, pleuropulmonary blastoma, cystic nephroma, ovarian Sertoli-Leydig cell tumor Mutation = germline OR somatic Zygosity = causes loss of heterozygosity Variant = unregistered Family = those with the mutation almost always passed it on

    1. The DICER1 syndrome is an autosomal dominant tumor‐predisposi-tion disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer

      GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation

    1. DICER1 syndrome is a cancer-predisposing disorder caused by pathogenic variants in the DICER1 gene

      Gene: DICER1 PMCID: PMC7859642 PMID: 33552988 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: familial pleuropulmonary blastoma (PPB),cystic nephroma, ovarian Sertoli-Leydig cell tumor (SLCT), multinodular goiter, cervix embryonal rhabdomyosarcoma, Wilms’ tumor, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, and sarcomas of different sites. Mutation: Germline Zygosity: Heterozygosity most common Variant: ClinVarID not available Family Information: No mention of disease within family Case: No case specified GnomAD: N/A Mutation Type: Nonsense or Frameshift

    1. ReconfigBehSci on Twitter: "RT @tylerblack32: Ghouls BEFORE COVID: 🤮🤮🤮🤮🤮🤮 ‘Only 0.2% of cancer deaths occur in children! <0.003% will die of cancer! Only about 0.16%…’ / Twitter. (n.d.). Retrieved 7 February 2022, from https://twitter.com/SciBeh/status/1490254426719899655

  4. Mar 2022
    1. Valter Longo, PhD has been studying an aspect of fasting and autophagy that is fascinating enough, I wanted to include it in it’s own section. One area of his research focuses on how fasting induces differential stress resistance to make chemotherapy far more effective. In a food scarce environment, normal cells become more resistant to oxidative stress, but cancer cells don’t. Remember, cancer cells are broken cells. Something went wrong with them and they are replicating out of control. Being broken means they don’t retain all the typical functions and protective mechanisms of normal cells, like antioxidant generation. That’s one of the reasons cancer cells switch their metabolism from oxidative phosphorylation to glycolysis even in the presence of oxygen. It’s known as the Warburg effect. There are many theories on why this happens, but one is because cancer cells are more sensitive to the reactive oxygen species created during normal metabolism. Eating creates an environment where cancer cells thrive and normal cells are stressed. Cancer cells need an environment rich with sugar, growth factors (like IGF-1) and amino acids like glutamine. For normal cells, metabolism creates reactive oxygen species and triggers an immune response to deal with all the pathogens riding along on top of your meals. However, when you fast, normal cells become 1000 times more resistant to reactive oxygen species, but cancer cells do not. This same starvation-protection also makes normal cells far more resistant to chemotherapy drugs.

      So fasting helps protect healthy cells and weakens cancerous ones. That's cool. But then it says cacer clles need sugar, growth factors like [[IGF-1]] and amino acids like glutamine. The [[Carnivore Diet]] is going to increse IGF-1 and amino acid levels but should starve the cancer cells of sugar. Given Dr Clemens' success treating cancer with the [[PKD]] protocol I'm inferring that it's the triad that needs to be inn place and if sugar is missing then the other factors being elevated eoesn't matter that much.

  5. Feb 2022
    1. People like to say to and about cancer patients: "How brave."  And "What a brave fight."  And he/she "fought cancer valiantly."   Holy mother of god.    There is no bravery.  There is only fear.  There is only pain. If we could escape this by retreating - all of us would.  Seriously, show me a coward's way out, and I will take it.   We are not brave.  We are struggling to survive. 
  6. Jan 2022
    1. Fernandez-Castaneda, A., Lu, P., Geraghty, A. C., Song, E., Lee, M.-H., Wood, J., Yalcin, B., Taylor, K. R., Dutton, S., Acosta-Alvarez, L., Ni, L., Contreras-Esquivel, D., Gehlhausen, J. R., Klein, J., Lucas, C., Mao, T., Silva, J., Pena-Hernandez, M., Tabachnikova, A., … Monje, M. (2022). Mild respiratory SARS-CoV-2 infection can cause multi-lineage cellular dysregulation and myelin loss in the brain (p. 2022.01.07.475453). https://doi.org/10.1101/2022.01.07.475453

  7. Dec 2021
    1. US28-mediated activation of MAPKs and of PLCβ was also shown to mediate activation of the cAMP response element binding protein (CREB) in HEK-293 cells and COS-7 cells transiently transfected with US28 [31,38], a transcription factor linked to a broad range of cellular processes, such as cell proliferation, differentiation, survival, angiogenesis, immune response, migration and invasion [83] (Figure 2). Although this has not been proven in the context of HCMV infection, in HEK-293 cells transiently transfected with US28, this activation of CREB by US28 has also been reported to stimulate the major immediate early gene promoter/enhancer (MIE) [84], thus playing a key role in the activation and replication of HCMV, but also in HCMV reactivation from latency

      CREB stimulates the major immediate early gene promoter/enhancer, and it plays a key role in the activation and replication of HCMV.

  8. Nov 2021
  9. Oct 2021
  10. Aug 2021
    1. When I began to understand that attitude doesn’t have anything to do with survival, I felt myself coming up out of deep water. I didn’t cause my cancer by having a bad attitude, and I wasn’t going to cure it by having a good one.And then Coscarelli told me the whole truth about cancer. If you’re ready, I will tell it to you.Cancer occurs when a group of cells divide in rapid and abnormal ways. Treatments are successful if they interfere with that process.That’s it, that’s the whole equation.Everyone with cancer has a different experience, and different beliefs about what will help. I feel strongly that these beliefs should be respected—including the feelings of those who decide not to have any treatment at all. It’s sadism to learn that someone is dangerously ill and to impose upon her your own set of unproven assumptions, especially ones that blame the patient for getting sick in the first place.

      Attitude doesn't have anything to do with healing Cancer.

    1. https://nooshu.com/blog/2021/05/12/weve-spotted-something-on-your-scan/

      The waiting and not knowing is one of the worst parts. Even reading updates into August is difficult. I was hoping that the surgery would have taken place already.

      Hoping the best for you and your family Matt.

  11. Jul 2021
  12. Jun 2021
    1. Luisa: I wanted Northwestern. I had my eye set on Northwestern. I don't know what it was about Northwestern that called to me, but I wanted Northwestern. That's what I wanted, and it wasn't unachievable. One of my friends got into Brown University and she had worse grades than I did, so I was like, "Northwestern's going to be easy. I got this." I wanted to be an oncologist—yes, an oncologist, cancer. I don't know why [Chuckles]. I don't know. Human tragedy, I wanted to save people. That's been my thing. I want to save people. I want to make people better. So [Pause] I killed myself in school. 4.6 GPA. I had all these extracurriculars.

      Time in the US, Higher Education, Dreaming About

    2. Thank God for Cook County Hospital [Chuckles]. They don't charge you a thing, but she got the medical treatment that she needed. She had brain surgery. They removed the tumor and she had to be in therapy for a few years in order to gain … she couldn't talk. She didn't have movement in half of her face, so she couldn't speak because her tongue was numb on one side, so she had to have physical therapy. I went with her a couple times because I had to translate. Sometimes they didn't have people who would translate for my mother. At this point, I had already learned English, but she had to practice every single day. Still to this day, there are a few words that she cannot say.

      Time in the US, Illness

    3. since my mom … my mom at the time, we did not know she had a tumor in the back of her brain. Right where her brain stem is, she had a huge tumor there and we had no idea. Nobody knew. She doesn't remember a lot of this. I don't know if it's because of the emotional trauma or because of the tumor, but once we got to Chicago, it was evident that something was wrong with my mother and she started going to the doctor.

      Time in the US, Illness

  13. May 2021
    1. I worked on a recent project to sketch out for a centre-right German think-tank how a European data commons might work. I tried to steer it away from property rights and towards what you’d get if you started with the commons and then worked back to what data could be harnessed, and to which collective purposes. This is eminently do-able, and pushes you towards two distinct areas; groups of people who are served poorly or not at all by current data regimes, and existing cooperatives, unions and mutual societies who could collect and process their members’ data to improve collective bargaining, or licence access to it to generate revenue and boost affiliate membership. Viewing personal data as a collective asset points towards all sorts of currently under-provided public goods (I briefly describe several, on p. 74 here – yes, oddly enough, this stuff got shoved into an annex).

      Apparently lots of reading to catch up on here.

      I definitely like the idea of starting with the commons and working backwards, not only with respect to data, but with respect to most natural resources. This should be the primary goal of governments and the goal should be to prevent private individuals and corporations from privatizing profits and socializing the losses.

      Think of an individual organism in analogy to a country or even personkind. What do we call a group of cells that grows without check and consumes all the resources? (A cancer). The organism needs each cell and group of cells to work together for the common good. We can't have a group of cis-gender white men aggregating all the power and resources for themselves at the cost of the rest otherwise they're just a cancer on humanity.

  14. Apr 2021
  15. Mar 2021
  16. Feb 2021
    1. Dr. Tara C. Smith. (2021, January 23). A reminder: Especially among the elderly, some individuals will die shortly after receipt of the vaccine. What we need to understand is the background rate of such deaths. Are they higher then in the vaccinated population? We didn’t see that in the trials. Some data from @RtAVM. https://t.co/LJe9k1WJQC [Tweet]. @aetiology. https://twitter.com/aetiology/status/1352810672359428097

  17. Nov 2020
    1. Tumor suppressor genes

      These are genes that slow down cell division, repair DNA errors, and/or tell cells to terminate. If these Tumor Suppressor Genes fail to function properly, they go rouge and become cancer cells.

  18. Oct 2020
    1. How this phenomenon translates into absolute, rather than relative, risk, however, is a bit thorny. A large study published in 2018, for instance, found that among women who had children between 34 and 47, 2.2 percent developed breast cancer within three to seven years after they gave birth (among women who never had children, the rate was 1.9 percent). Over all, according to the American Cancer Society, women between 40 and 49 have a 1.5 percent chance of developing breast cancer.

      The rates here are so low as to be nearly negligible on their face. Why bother reporting it?

  19. Aug 2020
  20. Jul 2020
  21. Jun 2020
  22. May 2020
  23. Mar 2020
    1. Cancer - a symbolic drama between mother and child Bahne-Bahnson (1982) notes that people suffering from cancer experience in a psychosomatic way old emotional deficits that have never been consciously addressed. He suggests that cancer patients have been deprived of being innocent children, and that many of them had to look after and emotionally support their parents. These people missed out on much of the essential emotional nurturing that would have allowed them to develop a strong sense of self.
    1. The Power of Spheres

      This "article" is in fact an advertorial, i.e. paid for content. It looks like a scientific article but is not peer reviewed. And it does not include declarations of conflict of interest even though the first author is a founder of a company that develop therapies based on the technology advertised in this feature.

  24. Dec 2019
    1. After diagnosis, 40 percent of cancer patients report developing significant distress that can include serious worry, panic attacks, depression, and PTSD, or posttraumatic stress disorder

      I feel like not these should be a more serious concern

  25. Sep 2019
  26. Jun 2019
  27. May 2019
    1. For cancer tissues, two cores are sampled from each individual and protein expression is annotated in tumor cells.
    1. (Uhlén M et al, 2015). The cell lines have been harvested during log phase of growth and extracted high quality mRNA was used as input material for library construction and subsequent sequencing. The expression level of gene-specific transcripts is given as Transcript Per Million (TPM) values. Genes with a TPM value ≥1 are considered as detected. Altogether the transcriptome of 64 cell lines have been analyzed to form a basis of different expression categories.
  28. Feb 2019
  29. Jan 2019
    1. Nodular melanoma ++ Nodular melanomas account for 20% of melanomas, are aggressive and invasive, and have no radial growth phase. They are typically found on the trunk and limbs of young to middle-aged individuals (see FIG. 125.8). It may have a ‘blueberry’-like nodule. Prognosis is determined by thickness at the time of excision. Dermatoscopy is usually less useful. ++ FIGURE 125.8 Nodular melanoma on the back. It has no radial growth phase and because it grows vertically can be readily misdiagnosed. The ABCD rule often does not apply but this lesion shows variable colours and an irregular border. Photo courtesy Robin Marks Graphic Jump LocationView Full Size| Favorite Figure|Download Slide (.ppt) ++ The early nodular melanoma problem4,5 ++ Nodular melanoma can present a diagnostic dilemma since the ABCD rule (see later in this chapter) often does not apply. The mnemonic EFG, standing for ‘Elevated’, ‘Firm’ and ‘Growing for more than 1 month’, is more appropriate. Early melanomas tend to be symmetrical, non-pigmented, even in colour, of small diameter and to grow vertically. ++ They are often mistaken for a haemangioma or a pyogenic granuloma. If one is suspicious, refer early to a specialist/specialist clinic. ++ Acral lentiginous melanoma ++ These typically occur on palms, soles and distal phalanges (see FIG. 125.9). They have a poorer prognosis than other types. They occur mainly in people with dark skin. ++ FIGURE 125.9 Acral lentiginous melanoma. A 30-year-old man presented with a ‘mole’ on his toe that had become ‘lumpier’. This type of melanoma, which occurs on the distal areas of the limbs, begins as a spreading pigmented, macule before developing into a nodule surrounded by a pigmented halo (as shown). Photo courtesy Robin Marks Graphic Jump LocationView Full Size| Favorite Figure|Download Slide (.ppt) ++ Desmoplastic melanoma4 ++ This is a rare and aggressive subtype of melanoma. They are often subtle

      nicely reviewed article.

  30. Dec 2018
    1. Zhou, W., Mukherjee, P., Kiebish, M. A., Markis, W. T., Mantis, J. G., & Seyfried, T. N. (2007). The calorically restricted ketogenic diet, an effective alternative therapy for malignant brain cancer. Nutrition & metabolism, 4(1), 5.
  31. Oct 2018
  32. May 2018