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Rare Conditions

The Radium Girls

The Radium Girls

Around the turn of the 20th century, scientific advancements occurred at a record pace. From Maxwell’s theory of electromagnetic waves to Einstein’s theories of relativity, long-standing mysteries of the universe were revealed. Medical discoveries also progressed feverishly. Countless lives were saved because of the practice of using antiseptics during surgery. The theory of germs gave us a greater understanding into the transmission of disease. Vaccines for cholera, anthrax, rabies, tetanus, diphtheria, typhoid fever, pertussis, tuberculosis, the plague, and many others were developed. In 1901, the ABO system of blood typing was successfully used for safer transfusions. Felix Hoffman developed aspirin from willow tree bark. The discovery of X-rays revolutionized diagnostic medicine, and the theory of radioactivity was proposed by Marie and Pierre Curie. An optimistic future lay ahead, but instead of cautiously navigating through this new field of radioactivity, arrogance and greed blazed the trail. Such is the story of the Radium Girls.

Jumping Frenchmen of Maine

Jumping Frenchmen of Maine

Evolutionarily speaking, the fight or flight response is a hard-wired physiological reaction that has kept us alive for millennia. It can be argued that without that response we may have never traveled from the great plains of Africa to Europe, Asia, and beyond. The process is the same for every person: some external stimulus triggers a cascade of events. First the amygdala signals the hypothalamus. The hypothalamus then triggers the pituitary gland to release adrenocorticotropic hormone (ACTH) and it also triggers the adrenal glands. The adrenal glands release cortisol and adrenaline, causing a cascade of physiological responses.

Acromegaly and Gigantism

Acromegaly and Gigantism

Throughout history, folklore, and every culture, stories about giants have persisted. The mythos surrounding them elicits memories of simpler times. Growing up, most children are made aware of Jack’s giant (Jack and the Beanstalk) or how Paul Bunyan carved the Grand Canyon by dragging his ax behind him. Giants have been portrayed as grotesque brutes and less than human, as is the case with Jack’s giant or the Cyclops from Greek mythology. Sometimes, giants are extremely agreeable and pleasant, such as the lovable gentle giant Fezzik in The Princess Bride. Giants may also represent monolithic feats or something that must be conquered, as is the case with the story of David and Goliath. Virtually every religion references giants, typically as creatures in the early days of mankind. In fact, giants have such a connection to religion that in recent years there have been several hoaxes involving giants that attempt to confirm biblical accounts. One of the more famous giant hoaxes occurred in Cardiff, New York, in 1869. The Cardiff giant was deliberately sculpted and buried at a farm in New York State by George Hull, a self-proclaimed atheist. The fake fossil was carved out of gypsum and measured over 10 feet long. Immediately upon its discovery, it was deemed a fake. However, that didn’t deter swarms of people from flocking to New York and shelling out 50 cents to see the real-life Goliath. As the rumor mill ramped up, declaring that the Cardiff giant was evidence of the Bible’s accuracy, P.T. Barnum wanted to cash in too. Barnum tried to rent the giant for his traveling circus but was turned down. Undeterred, Barnum created his own fake Cardiff giant and, interestingly enough, Barnum’s fake fossil was more popular than the original.

Fregoli Syndrome

Murder, Intrigue, and a Case Involving Fregoli Syndrome?

On January 26, 1996, the Newtown, PA police and 3 SWAT teams surrounded the du Pont mansion on the Foxcatcher estate, about 15 miles west of Philadelphia. Earlier that day, John du Pont, the chemical company heir, shot and killed his longtime friend, Dave Schultz, 36, an Olympic gold medalist in freestyle wrestling. Armed with several guns, du Pont refused to surrender to police and held up in his mansion. A standoff commenced. It was particularly cold, and after 2 days, the police shut off the power and heat. When Mr. du Pont went outside to investigate, they captured him.

Congenital Adrenal Hyperplasia

CAH: Making Better Wives and Mothers Through Pharmaceuticals

Congenital adrenal hyperplasia (CAH) is a group of rare autosomal recessive disorders affecting the endocrine system. The disease affects production pathways for glucocorticoids (GCs) and mineralocorticoids (MCs) such as cortisol and aldosterone. In affected individuals, cortisol levels do not normalize, resulting in a runaway steroidogenesis process and an overabundance of androgens (male sex hormones). Individuals with CAH develop adrenal hyperactivity and abnormally large adrenal glands (hyperplasia). Symptoms may be mild or severe and presentations may vary from ambiguous female genitalia, underdeveloped male genitalia, precocious pseudopuberty, skeletal malformations, to a very serious salt-wasting crisis. Some females may present with symptoms that resemble polycystic ovarian syndrome (PCOS), displaying unusual excessive hair growth, irregular or absent menstrual cycles, and anovulation (lack of an ovum release during menstruation).

Hereditary Sensory and Autonomic Neuropathy Type I and Type II

Born Painless (HSAN II and III)

Unlike hereditary sensory and autonomic neuropathy type I (HSAN I), HSAN II and HSAN III are inherited in an autosomal recessive pattern. Both conditions are characterized by a deficit in distal sensory perception, with the lower limbs more severely affected than the upper limbs. Touch and temperature perception are affected to varying degrees in these individuals, with some depressed deep tendon reflexes. However, their ability to sense vibration may be normal. The extent of autonomic neuropathy and dysfunction varies greatly between types II and III. Type III is more severe, not only in sensory manifestations but also to the degree in which the autonomic system is affected.

Hereditary Sensory and Autonomic Neuropathy

Born Painless (HSAN I)

We all experience some form of physical pain in our lifetimes. Pain doesn’t discriminate; it is a universal quality that is easy to recognize. Pain is a powerful learning tool. B.F. Skinner, the father of operant conditioning (instrumental learning), demonstrated how behavior can be modified through positive and negative reinforcement (pain and pleasure). As most parents can attest, this type of learning may display rapid results. An everyday example of this is when a parent buys a child a toy to stop them from crying or whining. Although this may stop the crying/whining, it has the opposite effect on the child. The child learns that if they repeat that negative behavior, they will get what they want. Unfortunately, by rewarding undesired behavior, the habit can be difficult to break.

Recessive Dystrophic Epidermolysis Bullosa

Recessive Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa (DEB) is a group of rare inherited diseases that cause skin fragility and blistering. A recent classification includes 3 subtypes: severe generalized recessive DEB (RDEB-sev gen), generalized other recessive DEB (RDEB-O), and dominant DEB (DDEB). DEB occurs because of a type VII collagen defect in the anchoring fibrils in the epidermal-dermal junction (in the lamina densa of the cutaneous basement membrane). Both the recessive and dominant variants stem from a mutation in the type VII collagen gene COL7A1. The recessive variant, RDEB-sev gen, is perhaps the most catastrophic and tragic. There is some literature that indicates an occasional de novo mutation, but generally it is inherited.

Porphyria

Porphyria

The name porphyria is taken from the Greek root for purple (porphyra). Porphyrias are a group of 8 inherited or acquired disorders of heme biosynthesis. A deficiency in any of the 8 enzymes in the biosynthetic pathway can result in the accumulation and excretion of intermediary metabolites. Patients generally present with either neurovisceral (acute) or cutaneous symptoms but sometimes they may have mixed symptoms. One of the earliest descriptions of porphyria was made by B.J. Stokvis, MD, in 1889. In 1930, the German chemist Hans Fischer described porphyrins as The compounds which make grass green and blood red. In 1937, Jan Gosata Walenstrom coined the term porphyria he published research identifying one type of porphyria, acute intermittent porphyria (AIP). By 1960, all 8 types of porphyria had been described, as well as environmental factors that affect the course of the disease.  Porphyria research in the 1980s and 1990s identified the molecular defects in each type.

Carnitine Palmitoyltransferase

Carnitine Palmitoyltransferase (CPT), CPT-II Deficiency

A physically fit, 39-year-old Norwegian woman arrives at the hospital complaining of generalized muscle weakness. She informs the resident that her symptoms began 3 days earlier after experiencing flu-like symptoms and a sore throat. Her weakness has progressed to the point where she needs help walking and she indicates that her arms feel heavy and tired. She has a dull pain in her lower back, chest, and proximal muscles of both her arms and legs when she moves. She does not have any abdominal or urinary issues, sensory disturbances, or difficulties breathing or coughing. There is no history of drug or alcohol abuse; she doesn’t smoke or take prescription medications. She can’t recall having any insect bites and occasionally travels in Europe for business.

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