Reconstruction of a historical genealogy by means of STR analysis and Y-haplotyping of ancient DNA.
Archaeological excavations in St Margaretha's church at Reichersdorf, Germany, in 1993 led to the discovery of eight skeletons, so far assumed to be of the Earls of Konigsfeld, who used the church as a family sepulchre over a period of seven generations from 1546 to 1749. DNA-based sex testing and analysis of autosomal short tandem repeat systems (STR) was carried out to confirm the assumption of kinship. Since five of the individuals were determined as males, analysis of Y-specific STRs seemed feasible. A comparison of Y-haplotypes revealed that one individual could not be linked to the Konigsfeld patrilineage, an observation supported by autosomal STR evidence. Two individuals typed as females posed an identification problem, since supposedly only male members of the family were buried in St Margaretha's. Nevertheless, these individuals could tentatively be identified as members of the House of Konigsfeld through genetic fingerprinting. (+info)
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.
Uniparental disomy (UPD), a rare inheritance of 2 copies of a single chromosome homolog or a region of a chromosome from one parent, can result in various autosomal recessive diseases. Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency. In this study, we describe a patient with ABL inherited as a homozygous intron 9 splice acceptor G(-1)-to-A mutation of the transfer protein gene. This mutation alters the splicing of the mRNA, resulting in a 36 amino acids, in-frame deletion of sequence encoded by exon 10. We analyzed chromosome 4, including MTP gene (4q22-24), using short tandem repeat markers. The proband has only his mother's genes in chromosome 4q spanning a 150-centimorgan region; ie, segmental maternal isodisomy 4q21-35, probably due to mitotic recombination. Nonpaternity between the proband and his father was excluded using 6 polymorphic markers from different chromosomes (paternity probability, 0.999). Maternal isodisomy (maternal UPD 4q) was the basis for homozygosity of the MTP gene mutation in this patient. (+info)
Pertussis in the preantibiotic and prevaccine era, with emphasis on adult pertussis.
Pertussis was first recognized as an epidemic disease in the 16th century. The classic illness is a three-stage illness (catarrhal, spasmodic, and convalescent), with a distinctive cough, and its characteristics today are similar to those in the prevaccine era. In the prevaccine era, the calculated attack rate was 872/100,000 population, and the majority of cases occurred in children <5 years of age. On average, there were 7,300 deaths/year; the death rate began to decline before antimicrobial therapy and vaccination. Reported pertussis in adults was rare, but numerous investigators noted that atypical cases of pertussis were common in adults. (+info)
From Shakespeare to Defoe: malaria in England in the Little Ice Age.
Present global temperatures are in a warming phase that began 200 to 300 years ago. Some climate models suggest that human activities may have exacerbated this phase by raising the atmospheric concentration of carbon dioxide and other greenhouse gases. Discussions of the potential effects of the weather include predictions that malaria will emerge from the tropics and become established in Europe and North America. The complex ecology and transmission dynamics of the disease, as well as accounts of its early history, refute such predictions. Until the second half of the 20th century, malaria was endemic and widespread in many temperate regions, with major epidemics as far north as the Arctic Circle. From 1564 to the 1730s the coldest period of the Little Ice Age malaria was an important cause of illness and death in several parts of England. Transmission began to decline only in the 19th century, when the present warming trend was well under way. The history of the disease in England underscores the role of factors other than temperature in malaria transmission. (+info)
Historical and cultural roots of drinking problems among American Indians.
Roots of the epidemic of alcohol-related problems among many Native North Americans are sought in cultural responses to European arrival, the role of alcohol in frontier society, and colonial and postcolonial policies. Evidence from the historical record is considered within the framework of current social science. Initially, Native American's responses to alcohol were heavily influenced by the example of White frontiersmen, who drank immoderately and engaged in otherwise unacceptable behavior while drunk. Whites also deliberately pressed alcohol upon the natives because it was an immensely profitable trade good; in addition, alcohol was used as a tool of "diplomacy" in official dealings between authorities and natives. The authors argue that further research into the origins of modern indigenous people's problems with alcohol would benefit from an interdisciplinary "determinants of health" approach in which biological influences on alcohol problems are investigated in the context of the cultural, social, and economic forces that have shaped individual and group drinking patterns. (+info)
Michelangelo: art, anatomy, and the kidney.
Michelangelo (1475-1564) had a life-long interest in anatomy that began with his participation in public dissections in his early teens, when he joined the court of Lorenzo de' Medici and was exposed to its physician-philosopher members. By the age of 18, he began to perform his own dissections. His early anatomic interests were revived later in life when he aspired to publish a book on anatomy for artists and to collaborate in the illustration of a medical anatomy text that was being prepared by the Paduan anatomist Realdo Colombo (1516-1559). His relationship with Colombo likely began when Colombo diagnosed and treated him for nephrolithiasis in 1549. He seems to have developed gouty arthritis in 1555, making the possibility of uric acid stones a distinct probability. Recurrent urinary stones until the end of his life are well documented in his correspondence, and available documents imply that he may have suffered from nephrolithiasis earlier in life. His terminal illness with symptoms of fluid overload suggests that he may have sustained obstructive nephropathy. That this may account for his interest in kidney function is evident in his poetry and drawings. Most impressive in this regard is the mantle of the Creator in his painting of the Separation of Land and Water in the Sistine Ceiling, which is in the shape of a bisected right kidney. His use of the renal outline in a scene representing the separation of solids (Land) from liquid (Water) suggests that Michelangelo was likely familiar with the anatomy and function of the kidney as it was understood at the time. (+info)
Clinical classification and terminology: some history and current observations.
The evolution of health terminology has undergone glacial transition over time, although this pace has quickened recently. After a long history of near neglect, unimaginative structure, and factitious development, health terminologies are in an era of unprecedented importance, sophistication, and collaboration. The major highlights of this history are reviewed, together with important intellectual advances in health terminology development. The inescapable conclusion is that we are amidst a major revolution in the role and capabilities of health terminologies, entering an age of large-scale systems for health concept representation with international implications. (+info)
Food of the gods: cure for humanity? A cultural history of the medicinal and ritual use of chocolate.
The medicinal use of cacao, or chocolate, both as a primary remedy and as a vehicle to deliver other medicines, originated in the New World and diffused to Europe in the mid 1500s. These practices originated among the Olmec, Maya and Mexica (Aztec). The word cacao is derived from Olmec and the subsequent Mayan languages (kakaw); the chocolate-related term cacahuatl is Nahuatl (Aztec language), derived from Olmec/Mayan etymology. Early colonial era documents included instructions for the medicinal use of cacao. The Badianus Codex (1552) noted the use of cacao flowers to treat fatigue, whereas the Florentine Codex (1590) offered a prescription of cacao beans, maize and the herb tlacoxochitl (Calliandra anomala) to alleviate fever and panting of breath and to treat the faint of heart. Subsequent 16th to early 20th century manuscripts produced in Europe and New Spain revealed >100 medicinal uses for cacao/chocolate. Three consistent roles can be identified: 1) to treat emaciated patients to gain weight; 2) to stimulate nervous systems of apathetic, exhausted or feeble patients; and 3) to improve digestion and elimination where cacao/chocolate countered the effects of stagnant or weak stomachs, stimulated kidneys and improved bowel function. Additional medical complaints treated with chocolate/cacao have included anemia, poor appetite, mental fatigue, poor breast milk production, consumption/tuberculosis, fever, gout, kidney stones, reduced longevity and poor sexual appetite/low virility. Chocolate paste was a medium used to administer drugs and to counter the taste of bitter pharmacological additives. In addition to cacao beans, preparations of cacao bark, oil (cacao butter), leaves and flowers have been used to treat burns, bowel dysfunction, cuts and skin irritations. (+info)