>> From UPS.EDU!EMBLEN Tue Oct 5 15:48:02 1993 >> Subject: Diseases Part II OLD DISEASE NAMES AND THEIR MODERN DEFINITIONS WITH DISCUSSIONS GENERATED BY THE SUBJECT Part II (M-Z) Original list compiled by Joyce Hall. Discussions added by Jodi Emblen. Some of the discussions stray a bit from their headings, but make more sense when presented this way than if they were chopped up. Because of his many contributions to these discussions, perhaps the reader would like to know Tom Lincoln's full title. He is: Thomas L. Lincoln MD Professor, Pathology, Univ. of So. Cal. We greatly appreciate his sharing of his knowledge (as well as all the time he spends on MELVYL) MANIA: Insanity MARFAN'S SYNDROME Chris Majors begins this particular discussion with:Tom Lincoln wrote that his hands are nearly identical to relative Abraham Lincoln's and so are his father's. There has been a lot of speculation in the past that Lincoln suffered from Marfan's syndrome, a genetic disorder that produces long limbs, long fingers and toes, potential heart defects, etc. I believe this made the news in the past due to sudden heart attacks in presumably healthy basketball players (note: tall people with long limbs). I'm not a medical person but am fairly familiar with this problem due to the fact that there's a great deal of leading research into this syndrome here at the University of Nebraska Medical Center at the Meyer Rehabilitation Institute where they do A LOT of genetics research. I recall some discussion about doing a genetics test on Abraham Lincoln's remains to determine whether or not he really had Marfan's syndrome. Does anyone out there recall whether or not this was done and the results, if any? Are there any physicians or geneticists out there who would be willing to describe this syndrome and how it is inherited? Tom, maybe you should check with your doctor about Marfan's syndrome. If you need more info, they should have tons of it here somewhere and I could mail it to you. Let me know if you're interested. Tom Lincoln responds: I am a doctor, and I do not have Marphan's... but the point is well taken I do have the long fingers, and, except for a serious intercurrent illness in childhood I would have been long and lanky like my father and uncle. I was contacted about 30 years ago by a genealogical geneticist who was polling all of the Lincolns he could find. They expect to take a lock of Lincoln's hair and extract the DNA from it and do some genetic annealing with the Marphan's gene. If things are not quite ripe for this yet, they will be soon. Susan Arday says I believe Victor Almon McKusick, MD, of the The Johns Hopkins University School of Medicine, Department of Medical Genetics, Baltimore, MD (21205) is one of the Principle Investigators in the proposed examination of tissue samples for genetic evidence of Marfan's Syndrome in Abraham Lincoln. I believe the tissue samples may be stored at the Walter Reed Army Institute of Research's Pathology museum in Washington, DC. Dr. McKusick, born 1921, is an internationally respected human genetics researcher, who is most famous for his years of work in the Amish population and on the causes of dwarfism. He has written one the classic textbooks in human genetics medicine, titled: "Medical Genetics", pub. 1973. He recently (1988) authored the second edition of the book "Mendelian Inheritance in man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Link Phenomenon". Lately, I have not heard or read any new information on the proposed DNA analysis, through the Human Genome Project (HGP), of A. Lincoln's preserved tissues, although it was proposed that his tissues be used because no one who is an immediate family member of Lincoln's is alive. Thus reducing the likelihood of revealing sensitive medical information that could possibly harm a son or daughter of Lincoln's, were such a person still alive today. See the article: VA McKusick. "The Defect in Marfan Syndrome." NATURE 352(6333):279-81, 1991 July 25. Marfan's syndrome is named after Antoine Bernard-Jean Marfan, a French pediatrician, 1858-1942, who first documented the disease. Marfan's disease or Marfan's syndrome, is a syndrome of congenital changes in the mesodermal and ectodermal tissues, skeletal changes (arachnodactyly, excessive length of extremities, laxness of joints), bilateral ectopia lentis, and vascular defects (particularly aneurism of the aorta, dissecting or diffuse). Iris transillumination in a person with Marfan's syndrome is marked due to a deficiency of posterior epithelium pigment. Marfan's syndrome is inherited a an autosomal dominant trait, proposed through recent work in the enormous HGP to be located on human chromosome pair 15. Basically, all this medical jargon means that Marfan's syndrome is a hereditary condition of disorders in connective tissue, cardiovascular tissue, ocular tissue, bones, muscles, ligaments, and skeletal structure. It probably results from abnormalities in elastin and collagen formation. A person with Marfan's syndrome may exhibit the following symptoms: irregular and unsteady gait, a tall lean body type with long extremities including fingers and toes. There often is abnormal joint flexibility, flat feet, stooped shoulders, and dislocation of the optic lens. The person's aorta will usually be dilated and may become sufficiently weakened to allow an aneurism to develop. Arachnodactyly, sometimes used a synonym for Marfan's syndrome, means spider-like fingers or a state in which the fingers and sometimes toes are abnormally long, slender and curved. Marfan's syndrome is a rare inherited, degenerative, generalized disease. Death in a person with Marfan's syndrome is usually attributed to cardiovascular complications, and may occur any time from early infancy to adulthood, depending on the severity of the symptoms. Marfan's syndrome affects males and females equally. Probably its most famous (postulated) victim was Abraham Lincoln. In 85% of patients with this disease, family history confirms Marfan's syndrome in one parent as well. In the remaining 15%, a negative family history suggests fresh mutation, possibly because of advanced paternal age. Characteristically, the clinical effects of Marfan's syndrome are absent at birth and develop slowly over a period of years. The effects may vary even among siblings. The common signs of this disorder are skeletal abnormalities, particularly excessively long tubular bones and an arm span exceeding the patient's height. Usually the patient is taller than average for his family, with the upper half of his body shorter than average, and the lower half, longer. His fingers are long and slender (spider fingers). Backward curvature of the legs at the knees often occurs. Weakness of ligaments, tendons, and joint capsules result in joints that are loose, hyperextensible, and habitually dislocated. Excessive growth of the rib bones gives rise the chest deformities, such as pectus excavatum (funnel breast) and pigeon breast. Eye problems are also common; 75% of Marfan's syndrome patients have crystalline lens displacement (ectopia lentis), the ocular hallmark of Marfan's syndrome. Frequently, quivering of the iris with eye movement (iridodonesis) suggests this disorder. Most patients are severely myopic, many have retinal detachment, and some have glaucoma or keratoconus. The most serious complications occur in the cardiovascular system, and include weakness of the aortic media that leads to progressive dilation or dissecting aneurysm of the ascending aorta. Such dilation appears first in the coronary sinuses, and is often preceded by aortic regurgitation. Less common cardiovascular complications include mitral regurgitation and endocarditis. Often general symptoms and associated problems include sparsity of subcutaneous fat, frequent hernia, cystic lung disease, recurrent spontaneous pneumothorax, and scoliosis. Because no specific test (except for the new genetic tests) confirms Marfan's syndrome, diagnosis rests on typical clinical features (especially skeletal deformities AND ectopia lentis) and a history of the disease in close relatives. Useful supplementary procedures, though not definitive for diagnosis, include x-rays for skeletal abnormalities and auscultation for abnormal heart sounds. Attempts to stop the degenerative process of Marfan's syndrome in patients have met with little success. Therefore, treatment of Marfan's syndrome is basically symptomatic, such as surgical repair of aneurysms and of ocular deformities. In young patients with early dilation of the aorta, prompt treatment with propranolol or reserpine can often decrease ventricular ejection and protect the aorta; extreme dilation requires surgical replacement of the aorta and the aortic valve. Steroids and sex hormones have been successful (especially in girls) in inducing precocious puberty by age 10 and early epiphyseal closure to prevent abnormal adult height. Genetic counseling is important, particularly since pregnancy and resultant increased cardiovascular workload can produce aortic rupture in a woman who has Marfan's syndrome. Patients with Marfan's syndrome need frequent medical check-ups so that degenerative changes can be discovered and treated early. They must take prescribed medication as ordered by their physician. Normal adolescent development should be encouraged in a child with Marfan's syndrome, because parents of a such a child may have unrealistic expectations of the child because he or she is tall and looks older than his or her years. In addition, a person with Marfan's disease, which is autosomal dominant in inheritance patterns, should receive genetic counseling, hopefully before becoming a parent. A dominant gene, such as that for Marfan's syndrome, produces it effect even in a heterozygote (a person who also carries a normal gene for the same trait). The dominant gene masks the effect of the normal paired gene. Because a person with an autosomal dominant disease is usually a heterozygote and carries a normal gene, his or her children have a 50% chance of inheriting the defective gene, and thus developing the disease. This probability remains the same for each and every pregnancy, since each pregnancy is a separate event. Unaffected persons (in this case, persons without Marfan's syndrome), don't carry the gene, and therefore can't transmit it to their children. Gender doesn't influence the transmission of an autosomal dominant trait, such as Marfan's syndrome. Unless the defective autosomal dominant gene has arisen as a new mutation, every affected person has an affected parent, so autosomal dominant traits don't tend to skip generations. Information abstracted from: The Merck Manual, 14th edition. The Nurse's Reference Library. Diseases - Causes and Diagnosis, Current Therapy, Nursing Management, Patient Education. Nursing 83 Books. Stedman's Medical Dictionary. 25th edition. Illustrated. I hope this illuminates and clarifies the recent discussion on Marfan syndrome, since not everyone on the list may have access to the same material on a specific topic. Cliff Manis stepped in to remind everyone that there are GENEALOG files on Abraham Lincoln which contain a lot of interesting information. Jean Paul Rigaut states: Following a recent set of mails about the Marfan syndrome -- it is generally believed that long arms (or, more precisely, an arm span greater than height) is a stigma of this genetic abnormality. In fact, a recent scientific article (G.D. Schott, "The extent of man from Vitruvius to Marfan", Lancet, 1992, 340, 1518-1520) contains a total refutation of these (old) ideas about the arm span. Span in normal people exceeds height in 59 to 78% of the cases in various studies. Individuals with Marfan's syndrome are not characterized by a greater span -- in fact, some of them may even have a lower span the average. This article also contains a superb analysis of the ideas of Vitruvius and, later, Leonardo da Vinci, concerning anthropometry (many of you have probably seen one day in a book the famous drawing by Leonardo with a man within a circle and a square). There is nothing about President Lincoln in this article. There is nothing, Tom :-), about long fingers. Marfan's syndrome is, no doubt, characterized by arachnodactylia (long and very thin fingers -- arachno.. think of Spiderman ??). However, I don't think that I have Marfan's syndrome, even though I have very long fingers and, yes, a span largely exceeding my height ! Jodi Emblen can't resist adding: A rock climbing friend of mine calls it the "ape index". It seems the further your fingers hang below your knees, the better your ape index - a fine thing to have for a rock climber. MEDICAL PEDIGREES Suzanne Badenhop writes: Out of curiosity, has anyone on the net researched and prepared a medical pedigree chart for your ancestors? I did one a year ago for my daughter as a result of her research in cholesterol and some of the hereditary characteristics of heart disease. Additionally, I have an aunt who is diabetic, but we never knew anyone in the family who was diabetic before her. In doing my genealogy research I discovered that my great grandmother's sister was a diabetic. If anyone has done pedigree searches for this purpose, I would be interested in how you put them together and what types of information you included. This type of information could be useful to future generations. Tom Lincoln responded: Victor McKusick is the leading figure in the field. He has a computerized data base that was begun in the 1960s at Johns Hopkins... Gay Carter adds: Since June 1991, I have been researching various aspects of "medical genealogy" for a series of articles for the Houston (TX) Genealogical Forum's quarterly, _The Genealogical Records_. Here are some of the sources I have found to be helpful: Gormley, Myra Vanderpool. _Family Diseases: Are You At Risk?_. Baltimore: Genealogical Publishing, 1989. (although this book has received some criticism, it is still the one you'll see most often referred to, and it at least approaches the topic from a genealogical perspective) Korn, Peter. "Lifelines." _Self_ 14 (June 1992): 122-127; 179. (this article is great for giving ideas on how to gather the necessary information; he even gives an example of how an interview with a relative might go and how to use the answers you get) Anderson, Adrienne E. _Family Medical Census Kit: To Assist You to Trace and Chart Family Characteristics and Diseases_. Loose leaf. Langdon, Alberta, Canada: Genealogy Plus, 1990. (this is a useful collection of forms and information (obsolete medical terms, symbols used in genograms, etc.) and fits nicely into a binder; it was reviewed in the _Genealogical Helper_, with ordering information - I ordered one and was very pleased) Moncada, Georgia A. "Causes of Death Sounded Different Back Then." _Heritage Quest_ 36 (September-October 1991): 15-18. Barry, Carol Ann. "What Every Woman Needs to Do." _McCall's_ 119 (January 1992): 18-24. Chorzempa, Rosemary A. "Making a Genetic Family Tree." _Victoria - Crossroads of South Texas 10 (Spring 1989): 5-6. Silberner, Joanne. "Your Health History." _U.S. News & World Report_ 110 (January 28, 1991): 61-64. Marlin, Emily. "If Your Family Tree Could Talk." _Self_ 10 (January 1988): 88-91. (this is slanted more toward the family's psychological environment, but the procedures and discussion are valuable) For those who are concerned about how to chart all of this information once gathered, I wrote one of my articles on that very subject: Carter, Gay E. "Charting Your Course, or Not *Another* Pedigree Chart!" _The Genealogical Record_ 33 (September 1991): 130-132. (okay, so I like cutesy titles :-) ) One of the things I touched on was how the computer programs "Family Roots" has the capability of printing notes in its pedigree charts. Shortly after that, I came across an article by Elmer C. Sanborn about doing this (also using "Family Roots"): Sanborn, Elmer C. "Put a Little Genetics in Your Notes." _Genealogical Computing_ 9 (July 1989): 32-33. This might be the answer for C. R. Pennell and others who were wanting an IBM program that could print notes in the pedigree. And there really are very few platforms that "Family Roots" *doesn't* run on (please don't write me back to tell me which ones it doesn't! :-^). Another IBM program that allows you to keep track of medical conditions is "Family Tree Maker." It also happens to produce gorgeous charts. I really haven't looked to see if you can print the medical info on the pedigree, but considering what all it does let you choose from to print, it may well do this. I'll check and let ya'll know! In a recent _NGS/CIG Digest_ is a review of 3 different programs that allow you to produce genograms: Brann, James R. "Genograms: A Unique Way to View Your Family Tree." _NGS/CIG Digest_ 11 (July-August-September 1992): 11. (The next article in this issues also happens to be a review of Family Tree Maker!) One more thing worth noting is an wall chart available from Historic Resources (an arm of the American Genealogical Lending Library): "4- Generation Genetic Traits Chart." To quote from their ad, it "allows you to record genealogical data for four generations and up to nine siblings per ancestor. Includes spaces for important notes, diseases, cause of death, features, height, and weight." Sorry for the long post (but it *could* have been longer! :-)). One of the hazards of being a librarian (of the type that WELCOMES the "g" word!) is that you feel compelled to thoroughly respond to a question! At any rate, I hope this helps some of you, and also gives you an idea of the variety of information that is out there. Gary Phoenix: Over the past 15 years my mother (a nurse, specializing in genetics) has put together a number of medical pedigrees to trace her patient's families for galactosemia and other genetic disorders. She also did a lot of work putting together our family tree from her grandparents down, including aunts/uncles/ cousins - she did this primarily for historical purposes, not medical, but did obtain some medically-related info on the way. I just spoke to her and she said that for her patients, she would get as much detailed information as possible about a patient's brothers and sisters, the parents and their siblings (and their aunts' & uncles' children), and their grandparents and their siblings and descendents. Information such as\: gender; nationality; residences/places they've lived; if dead, the cause of death and their age at death; if alive, their age & the quality of their health and specific health problems they've had or have; pregnancies - with same partner or multiple (relate similar or unique health conditions to specific partners); miscarriages and when (1st trimester, etc); stillbirths; birth defects; multiple births; mental retardation, and what type; etc. Be aware they may not be willing to discuss problems that they have encountered (and due to that, you may never know about deceased persons' conditions). My mother was dealing with a family where she was looking for cases of galactosemia; the family had many instances of cystic (sp?) fibrosis and didn't want to talk about it, but it came out very reluctantly. Family members may be less inclined to reveal problems to other family members than to medical professionals. As far as layout, she would lay in out in a pedigree tree format to show relationships and then detail the information individually. I know that what she gave us has a tree structure with symbols for gender, twins, stillborn/infant death and possibly some other info, but the purpose was primarily historical not medical. In the process she did discover a number of infant deaths that no one had really mentioned before; siblings hadn't even been aware of these brothers/sisters. She did discover, for example, that severe headaches run throughout the family (I've got one now 8^). And finally, just before I called her she had tossed out a letter which she had cleaned out of her files (she's newly retired 8^). She pulled it back out of the trash and read it off. It was from a nurse in the Portland, Oregon area who does genealogical research specializing in medical research - there are apparently professionals who do exactly what you're asking about. MILK LEG Daniel Kortenkamp asks: Is "milk leg" a specific disorder which would have a modern diagnostic label and explanation? My g-grandmother died of "milk leg" in July of 1888, two weeks after giving birth to her ninth child. This was on a farm in NE Iowa. Roger Scanland also wants to know: The posts about milk-related deaths reminds me of an ancestor who the family says died of "milkleg" shortly after giving birth to her last child. Does anyone know what "milkleg" was? Jennifer R. Amon contributes this definition: milk leg [1895-1900] - a painful swelling of the leg soon after childbirth, due to thrombosis of the large veins. Phil Frazier adds: I believe it is a condition called phlebitis or an infection or irritation of the veins of the leg. My source is a nurse at the nursing home where my mother in law now lives. She (mother in law) had "milk leg" after the birth of her second child. Maybe other medical types can confirm or elaborate on this for you And heere's Tom: Finally have had time to pursue this issue: Tried to find milk leg under milk leg in a 1958 medical dictionary.. no luck Then I tried: leg milk bingo! equated to phlegmasia alba dolens (another antique term) looked up phlegmasia alba dolens... milk leg -- being a painful swelling of the leg beginning at the ankle and ascending or at the groin and extending down the thigh... its usual cause is infection after labor note: it looks like the diagnosis of "euphoria" is similar... I recall that it was related to the Civil War (between the states).. Here the issue (as someone has already responded) is inappropriate affect -- laughing when you shouldn't. In a wartime context, the stress of battle has been given different names in every recent war: shell shock, battle fatigue, post engagement stress syndrome... looks like a variant of the same.. Other issues: Sometimes a disease is rephrased in terms a layman thinks he/she hears: Example -- "Simple Smiling Jesus" = spinal meningitis the grimaces that often accompany the disease make the interpreted name seem reasonable -- and it is no more obscure than phlegmasia alba dolens.. George L. Thurston joins in: My Webster's New World Dictionary defines "milkleg" as "a former term for a painful swelling of the leg, caused by inflammation and clotting in the femoral veins, usually as a result of infection during childbirth." Jean Suplick adds: Webster's 9th New Collegiate says: "A painful swelling of the leg at childbirth caused by inflammation and clotting in the veins." Maybe your ancestor had a clot broke loose and got lodged in the lung. Tom Lincoln joins in again: In any case, phlegmon dolorosa alba was the more formal name at the time. It was a rapidly extending infection usually caused by beta hemolytic striptococci in which the infection was deep and spread along the muscles, etc. Also commonly accompanied by thrombosis. It was one of the fatal patterns of post partum infection. Jerry Bennett sez: I know, from personal experience, that "milkleg" was also found in animals. When I was a kid (and we won't say how long ago that was), my folks has a small farm outside of town. (Since the town was Miami, you can guess how long ago it was.) Anyway, my dad wanted to buy a mule, and one was advertised in the paper. I don't remember all the facts, but I do remember that my mom went to look at it, and they were about to buy it, when my dad became quite angry. He said that the mule had a "milkleg", and that the seller was just trying to dump it. I can remember him showing us the right hind leg of the mule, and it appeared quite swollen. (Amazing how some of these pictures stay with you. I haven't thought about "milkleg" in over xx years!) So, end of story, they did not buy the mule because the animal had "milkleg." Caroline E. Bryan chimes in: As the only owner of a dictionary on the net it falls to me to reply: "a former term for a painful swelling of the leg, caused by inflammation and clotting in the femoral veins, usually as a result of infection during childbirth". Webster's New World Dictionary, 2nd ed., 1976, pp. 901-2. MORTIFICATION: Infection NOSTALGIA: Homesickness PEST HOUSES Joe Price writes: While reading a book on the history of Haverhill, MA a reference was made to the building of a "pest house" but that only 6 persons died of "the disease", one of which is a person of interest. Does anyone know what "the disease" is? This reference was for the late 1600s. Kathleen Much From the 1st 4 chapters: 1628-1631 New England - Small Pox 1638 New England - Small Pox & "spotted fever" 1648-1949 Massachusetts Bay Colony - Small Pox 1659 Massachusetts Bay Colony - Throat distemper 1677-1678 Charlestown & Boston - Small Pox 1679-1680 Virginia - Small Pox 1689-1690 New England & Canada - Small Pox 1693 Boston - Yellow Fever 1696 Jamestown, Virginia - Small Pox 1699 Charleston & Philadelphia - Yellow Fever March 1699 South Carolina - Small Pox 1702 New York - Yellow Fever 1702-1703 Boston - Small Pox 1706 Charleston - Yellow Fever 1711-1712 South Carolina - Small Pox 1715-1725 Most of the colonies - Small Pox 1721 Boston - Small Pox 1723-1730 Boston, New York, Philadelphia - Small Pox 1732 Charleston & New York - Yellow Fever 1735-1740 New England - Small Pox, Scarlet Fever & Diphtheria 1737 & 1741 Virginia - Yellow Fever 1738 Charleston, South Carolina - Small Pox 1752 Boston - Small Pox 1755 Canada - Small Pox 1760-1761 Connecticut, Rhode Island, Massachusetts, Charleston - Small Pox 1762 Philadelphia - Yellow Fever 1763 Philadelphia - Throat distemper 1764 Boston - Small Pox 1769 New York - Throat distemper 1772-1774 New England - Small Pox 1776 Boston - Small Pox 1778 Boston - Small Pox 1792 Boston - Small Pox Susan Arday says: The risk involved in uncontrolled infectious disease, such as tuberculosis (TB), is strikingly illustrated by the entries on the church register at Stratford- on-Avon. At that cultural shrine is a church register with the record of the birth of William Shakespeare. Several lines above may be seen the entry "juli 11, 1564, Oliverus Gume -- hic incipit pestis [here began the plague]." During the year 1564, that village suffered 242 deaths from plague. It is speculated that this represented 1/3 to 1/2 of the village population. During the upswing of the epidemic, there was born a helpless infant who easily could have been one of those affected but who, by chance alone, was spared, subsequently to give us some of civilization's greatest cultural treasures. If Shakespeare had become infected with plague and died, where would we be now? Mozart, Chopin, and many other great figures in the arts and sciences died at early ages from tuberculosis; and Schumann and numerous other notable persons died from typhoid fever. PHLEGMASIA ALBA DOLENS: Milk Leg PROTEIN DISEASE: glomerulonephritis Denise Gwinn asks: My father mentioned that his sister told him that as a young boy, around 3 or 4 years old, he almost died from 'protein disease'. This would have been around 1926/1927. He remembers being put on a special diet for awhile, but remember no other details. Anyone have any idea what this disease is known as today? Jennifer R. Amon responds: My dictionary shows: proteinuria [1910-1915] - excessive protein in the urine, as from kidney disease. Maybe that's what he meant. Tom Lincoln says: Probably had glomerulonephritis.. a once relatively common childhood kidney disease that causes the kidney to leak protein. This is a secondary (allergic) reaction to certain kinds of strep infections. Karen L. Fenton: I'd guess that it was kidney-related, probably excess protein in the urine. PUTRID FEVER: Diphtheria QUINSY: Tonsillitis Tom Lincoln says: most ominously, the extension of a tonsillitis infection into the muscle spaces of the neck REMITTING FEVER: Malaria SANGUINEOUS CRUST: Scab SCREWS: Rheumatism SCROFULA: See KINGS EVIL SHIPS FEVER: Typhus >From Tom: or other infections SOFTENING OF THE BRAIN Jeff Eastman asks: I have an ancestor who died about 100 years ago from "softening of the brain" according to his obituary. Does anyone know what that would be in modern terminology? Glenn Stone answers: Being tenured. STRANGERY: Rupture SUMMER COMPLAINT: Baby diarrhea caused by spoiled milk VENESECTION: Bleeding /end of part two/