2025-03-03

[public] 327K views, 22.7K likes, dislikes audio only

Chubbyemu

Review: Dr Katherine Johns, Dr John Chin, references are in this description below

In-depth channel: @HemeReview

Secret channel: @BigEmus

A Student Lived With A Horrible Roommate And It Ruined His Life. ► /youtube/video/EWZaLhfpI1E

A Family Ate 1 Year Old Frozen Leftovers For Breakfast. This Is What Happened To Their Organs. ► /youtube/video/yXnSYfv6bCA

Music inspired by R. Prince, performed by Chubbyemu

Other Music by @Lifeformed ► https://lifeformed.bandcamp.com

These cases are patients who I, or my colleagues have seen. They are de-identified and many instances have been presented in more depth in an academic setting. These videos are not individual medical advice and are for general educational purposes only. I do not give medical advice over the internet.

References:

Case 41-1986 — A 29-Year-Old Man with Mental ... and Recurrent Seizures. https://www.nejm.org/doi/abs/10.1056/NEJM198610163151607

Case 26-2011 — A 7-Year-Old Boy with a Complex Cyst in the Kidney. https://www.nejm.org/doi/full/10.1056/NEJMcpc1103557

Renal Cell Carcinoma in Tuberous Sclerosis Complex. https://pmc.ncbi.nlm.nih.gov/articles/PMC8535193/

Genetics of tuberous sclerosis complex: implications for clinical practice. https://pmc.ncbi.nlm.nih.gov/articles/PMC5189696/

Applying the Lessons of Tuberous Sclerosis: The 2015 Hower Award Lecture. https://www.pedneur.com/article/S0887-8994(16)30410-6/fulltext

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. https://pmc.ncbi.nlm.nih.gov/articles/PMC129715/

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. https://pubmed.ncbi.nlm.nih.gov/15483652/

Hamartin and tuberin: working together for tumour suppression. https://pubmed.ncbi.nlm.nih.gov/16206276/

Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo. https://casereports.bmj.com/content/2014/bcr-2014-207471

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome. https://www.nature.com/articles/ng1294-328

TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report. https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1101079/full

Tuberous Sclerosis–associated Renal Cell Carcinoma. A Clinicopathologic Study of 57 Separate Carcinomas in 18 Patients. https://journals.lww.com/ajsp/abstract/2014/11000/tuberous_sclerosis_associated_renal_cell.2.aspx

Renal Cell Carcinoma in Tuberous Sclerosis Complex. https://pmc.ncbi.nlm.nih.gov/articles/PMC8535193/pdf/genes-12-01585.pdf

Tuberous sclerosis: a review of the past, present, and future. https://pmc.ncbi.nlm.nih.gov/articles/PMC7672342/

https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02266-0

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. https://www.nature.com/articles/ng0992-37

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth. https://genesdev.cshlp.org/content/15/11/1383.full?sid=6a7c9bd8-20a1-4a5b-92c0-6e3cc120957b

Tuberous sclerosis, early onset of seizures, and mental subnormality: study of discordant homozygous twins. https://pubmed.ncbi.nlm.nih.gov/7201091/

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. https://pubmed.ncbi.nlm.nih.gov/2995836/

Human α-globin gene expression following chromosomal dependent gene transfer into mouse erythroleukemia cells. https://www.cell.com/cell/abstract/0092-8674(78)90082-X

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. https://academic.oup.com/hmg/article-abstract/24/7/1836/595579?redirectedFrom=fulltext

Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations. https://www.nature.com/articles/ncomms3135

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex. https://www.mdpi.com/2073-4425/15/11/1432

Dysregulation of the TSC-mTOR pathway in human disease. https://www.nature.com/articles/ng1494

Case courtesy of Dalia Ibrahim, Radiopaedia.org, rID: 187623

Case courtesy of Frank Gaillard, Radiopaedia.org, rID: 36364

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. https://pmc.ncbi.nlm.nih.gov/articles/PMC4355019/

Influence of Seizures on Early Development in Tuberous Sclerosis Complex. https://pmc.ncbi.nlm.nih.gov/articles/PMC5497719/

Structural insights of mTOR complex 1 https://www.nature.com/articles/cr201610

Pathology of human organic mercury poisoning: Lessons from an autopsy case. https://www.jns-journal.com/article/S0022-510X(23)02263-3/abstract

Case courtesy of Andrew Ryan, Radiopaedia.org, rID: 16061