Tag: diseases

Brain on a Chip

In physiology, you learn that cells work with electricity. Action potentials were studied in every physiology class. A while ago, I read that scientists connected a neuron to a computer chip. Today, I wondered: what is the state of that research now? Well, a quick visit to Pub Med (I swear I use Google just a little bit more than I use Pub Med) showed that things were going along.

Lab-On-A-Chip for the Development of Pro-/Anti-Angiogenic Nanomedicines to Treat Brain Diseases

By the way, there are tons of articles about the blood-brain-barrier on a chip (lab-on-a-chip) to study how we can treat diseases of the brain more effectively (because it’s hard to get drugs to go through the BBB as it is neuroprotective). I remember that the first question on the first homework I ever did for neuroscience class was about the BBB. So, very important stuff. For me personally, and if I’m still alive, this research can help find more efficient ways for less medication to work in my brain.

Then there is brain computer interface, which is also highly fascinating but now I’ve run out of time to write and will have to look at the topic later.

Diseases and syndromes I looked up in October

Microscopic polyangiitis – This disease, now known as microscopic polyangiitis (MPA), is a primary systemic vasculitis characterized by inflammation of the small-caliber blood vessels and the presence of circulating antineutrophil cytoplasmic antibodies (ANCA). Typically, microscopic polyangiitis presents with glomerulonephritis and pulmonary capillaritis, although involvement of the skin, nerves, and gastrointestinal tract is not uncommon. 

Thygeson’s Superficial Punctate Keratopathy – Thygeson’s superficial punctate keratitis (TSPK) is reportedly a rare disease with an insidious onset, numerous remissions and exacerbations, and a long duration. The corneal lesions are elevated, whitish–grey in colour, and granular in the intraepithelium. 

Acute Eosinophilic Pneumonia – this wasn’t for work. Actually, I was diagnosed with this once a long time ago. I have no idea if this is related, but I found out recently (within the past 10 years) that I have eosinophilic asthma.

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?

Moyamoya disease

Hyperproliferative lymphocytosis

Hereditary hemorrhagic telangiectasia

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.

Research articles on protein supplement or wine effects on health

Note: these are only a handful of studies compared to the multitudes of results I found on each topic. Please read widely to form a balanced perspective.

Effect of whey protein on blood pressure in pre‐ and mildly hypertensive adults: A randomized controlled study.

Moderate red wine consumption and cardiovascular disease risk: beyond the “French paradox”.

Effects of Whey and Pea Protein Supplementation on Post-Eccentric Exercise Muscle Damage: A Randomized Trial.

Effects of Whey Protein Supplementation Pre- or Post-Resistance Training on Muscle Mass, Muscular Strength, and Functional Capacity in Pre-Conditioned Older Women: A Randomized Clinical Trial.

Protein Intake and Exercise-Induced Skeletal Muscle Hypertrophy: An Update.

The history, science, and art of wine and the case for health benefits: perspectives of an oenophilic cardiovascular pathologist. (There is a lot about wine itself in parts 1 – 10, and the parts about wine’s effects on health starts at part 11).

Things I looked up in May

Heller Myotomy (via UCSF Department of Surgery): The Heller myotomy is essentially an esophagomyotomy, the cutting the esophageal sphincter muscle, performed laparoscopically.

Achalasia – Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach.

Ludwig’s angina – Ludwig’s angina is a form of severe diffuse cellulitis that presents an acute onset and spreads rapidly, bilaterally affecting the submandibular, sublingual and submental spaces resulting in a state of emergency.

odynophagia – Pain on swallowing; painful swallowing

Nutcracker Syndrome

Stevens Johnson syndrome – Stevens-Johnson syndrome (SJS) is a rare, serious disorder of the skin and mucous membranes. It’s usually a reaction to medication that starts with flu-like symptoms, followed by a painful rash that spreads and blisters. 

Scientists identify antibodies that can neutralize omicron

An international team of scientists have identified antibodies that neutralize omicron and other SARS-CoV-2 variants. These antibodies target areas of the virus spike protein that remain essentially unchanged as the viruses mutate. By identifying the targets of these “broadly neutralizing” antibodies on the spike protein, it might be possible to design vaccines and antibody treatments…

Scientists identify antibodies that can neutralize omicron

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.