Stuff I looked up in August & September

Lots of things these past 2 months! When I was in high school, someone (probably one of my high school teachers) told me that to earn your PhD you have to contribute to some field’s research with a new idea. At that time I thought, wow, that sounds really hard. I couldn’t imagine any new ideas. Then I got older and learned more. One thing I keep realizing is that the more you look things up and learn, the more you realize what you, or we as humans, don’t know. The hunt for answers only brings up more questions. Can we ever really know everything?

Todd’s paralysis – Todd’s paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average of 15 hours, at which point it resolves completely. Todd’s paralysis may also affect speech and vision. Scientists don’t know what causes Todd’s paralysis.

Li-Fraumeni Syndrome – Li-Fraumeni syndrome (LFS) is an inherited familial predisposition to a wide range of certain, often rare, cancers. This is due to a change (mutation) in a tumor suppressor gene known as TP53. The resulting p53 protein produced by the gene is damaged (or otherwise rendered malfunctioning) and is unable to help prevent malignant tumors from developing. Children and young adults are susceptible to developing several multiple cancers, most notably soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma and acute leukemia.

Sclerosing mesenteritis – Sclerosing mesenteritis, also called mesenteric panniculitis, occurs when the tissue (mesentery) that holds the small intestines in place becomes inflamed and forms scar tissue. Sclerosing mesenteritis is rare, and it’s not clear what causes it.

PMS2-related Lynch syndrome – In humans, the importance of MMR is underscored by the discovery that a single mutation in any one of four genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS). LS is an autosomal dominant condition that predisposes individuals to a higher incidence of many malignancies including colorectal, endometrial, ovarian, and gastric cancers.

Mevalonate kinase deficiency – Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disorder. Autoinflammatory syndromes are a group of disorders characterized by seemingly random or unprovoked episodes of inflammation generally due to an abnormality of the innate immune system. They are not the same as autoimmune disorders, in which the adaptive immune system malfunctions and mistakenly attacks healthy tissue.

Muckle Wells syndrome – Muckle-Wells syndrome (MWS) is one of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. These syndromes are characterized by fever, rash and joint pain.

Adult onset Still’s disease – Adult-onset Still’s disease (AOSD) is a rare inflammatory disorder that can affect the entire body (systemic disease). The cause of the disorder is unknown (idiopathic). Affected individuals may develop episodes of high, spiking fevers, a pink or salmon colored rash, joint pain, muscle pain, a sore throat and other symptoms associated with systemic inflammatory disease.

Things I looked up in June

Sorry this is so late! Also, I didn’t have to look up anything rare during July.

Hurler syndrome – Hurler syndrome is the most severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

Methylmalonic acidemia – Methylmalonic acidemia refers to a group of inherited conditions in which the body can’t breakdown certain parts of proteins and fats.

Dandy-Walker syndrome – Dandy-Walker syndrome is hydrocephalus associated with a posterior fossa cyst and abnormal development of the cerebellum, a portion of the brain located near the base of the skull and important to voluntary muscle movement, balance and posture.

Things I looked up… Today

Facial dysostosis

CHARGE syndrome

Treacher Collins syndrome

Coloboma

Mitochondrial diseases

Sometimes I work on a case with a rare disease. In one year, I probably come across 5-8 rare diseases, which of course I have to look up because, well, what the hell is this?

One kind of disease that scare me are mitochondrial diseases. These are a group of conditions that are caused by genetic mutations in the mitochondrial DNA that make the mitochondria work abnormally. And if you remember anything about high school biology, mitochondrial are the “powerhouses” of the cell — they produce energy for us to use. So one can imagine that if you have something wrong with your power source, you can’t carry out normal functioning. Also, mitochondrial DNA are only carried in the egg cells, so only mothers can pass this down to their children. Sperm cells don’t carry and therefore don’t contribute mitochondria to the next generation.

It’s crazy how such a small thing can generally f*&k up a life. The US Health & Human Services National Institutes of Health website lists common signs and symptoms such as: poor growth, loss of muscle coordination, muscle weakness, seizures, autism, problems with vision and/or hearing, developmental delay, heart/liver/kidney disease, gastrointestinal disorders, dementia, to name some. You can see what mitochondrial diseases affect in this list of free text research articles at PubMed (I don’t have any institutional access, so I look for free text articles). Then I thought about prenatal testing, and found an article that discusses this, a more recent 2021 article of a study in Japan, and recent (as of 2017) advances in mitochondrial diseases. This article from 2020 is about rare genetic diseases in general, and diagnosing them. If there’s anything I’ve learned from skimming through these articles, it’s that there’s still so much we don’t know. Yet.