Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review.

Several syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes include disorders of globin chain synthesis (α- and ß-thalassemia), heme synthesis (erythropoietic porphyria and erythropoietic uroporphyria), red cell membrane structure (elliptocytosis and spherocytosis), red cell enzyme activity (pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency) and lowered expression of red cell ABO blood group antigens. This historical review describes the path to uncovering these acquired syndromes and their causal somatic mutations, where known. These syndromes often go unrecognized because of the dominant concern of the primary neoplasm. They may add to the healthcare needs of the patient.

Acquired elliptocytosis in chronic myeloid neoplasms: An enigmatic relationship to acquired red cell membrane protein and genetic abnormalities.

Nineteen reports of 41 cases of acquired red cell elliptocytosis associated with a chronic myeloid neoplasm are described. Although the majority of cases have an abnormality of the long arm of chromosome 20, del(q20), several cases do not. Moreover, in one case a specific qualitative abnormality of red cell protein band 4.1(4.1R) was reported; however, several subsequent cases could find no abnormality of a red cell membrane protein or found a different abnormality, usually quantitative. Thus, this striking red cell phenotypic feature, acquired elliptocytosis, seen in myelodysplastic syndrome and other chronic myeloproliferative diseases, closely simulating the red cell phenotype of hereditary elliptocytosis, has an unexplained genetic basis, presumably as the result of an acquired mutation(s) in some chronic myeloid neoplasms.

Bence Jones Island in Shepherd Bay, Nunavut: a little known tribute to the legendary physician and chemist's "thé de voyage"

Henry Bence Jones is among the esteemed physicians of the mid-19th century. Eighteen biographical medical journal articles, published between 1952 and 2021, describe his life and contributions to medicine. Unmentioned, however, is an island in the waters of Shepherd Bay in northern Canada, now Nunavut, designated Bence Jones Island, by the British explorer John Rae in 1854. Rae had sailed from Great Britain to the regions extending north of Hudson's Bay in search of information regarding Sir John Franklin and 133 other officers and men who departed from the Kingdom of Great Britain in two ships in 1845 to search for the Northwest Passage to the Pacific Ocean; they disappeared. In anticipation of Rae's voyage to search for evidence of Franklin's expedition, Bence Jones provided a special preparation of tea that could be drunk cold, if necessary. It was so meaningful to the crew of Rae's ship that it resulted in Rae naming an island near Boothia Isthmus in Shepherd Bay in recognition of this contribution to the contentment of his men under arduous conditions and in acknowledgment of Bence Jones's professional standing, upon which we comment. Rae's report of his voyage in 1855, cited herein, mentioned the island and showed its position on a map of the region. We have located it on a current map of the waterways and landmasses of Nunavut using Google Earth Pro by showing its position at the approximate coordinates of latitude and longitude cited by Rae.

Controversies in Selecting Nobel Laureates: An Historical Commentary.

There is universal agreement that the Nobel Prizes, given to individuals who have made an extraordinarily notable contribution to humankind in the fields of chemistry, physics, physiology or medicine, literature, and peace, are the most prestigious prizes offered for human achievement. This commentary gives an overview of the basis for Alfred Nobel writing his third will that established the five prizes and includes a discussion of why those five fields were chosen. The commentary includes factors that influenced his choices and contains examples of controversial selections or omissions, especially in the earlier years. A few were errors of omission (e.g. Tolstoy, Tesla, Edison, Best, Gandhi, Franklin), some errors of commission (e.g. Fibiger, Moniz); but, given the complexity of the task, the error rate is small. In some cases, the conclusion that an error had been made is debatable. Such decisions are difficult. Arne Tiselius, a Nobel laureate in chemistry and President of the Nobel Foundation said that one cannot in practice apply the principle that the Nobel Prize should be given to the person who is best; it is impossible to define who is best. Hence, there is only one alternative: to try to find a particularly worthy candidate. This paper includes a brief review of the integration of the Sveriges Riksbank Prize in Economic Sciences in Memory of Alfred Nobel, established in 1968, and added to the original five Nobel Prizes; the prize was first awarded in 1969. A short discussion on the absence of a Nobel Prize in mathematics is provided. Adaptations to the development of "big" science, especially in physics, may require the Nobel Foundation to extend its limit of no more than three awardees for the prize in physics and, perhaps, other scientific disciplines.

Biomedical article authorship: A proposal to enhance the meaningful assignment of authorship.

The authorship of articles in biomedical journals has proliferated despite efforts of publishers and editors to require justification of authorship. A proposal is made, herein, to resolve that matter by applying the "one paper: one citation" concept, so as to adhere to the thermodynamic principle of conservation of mass. This proposal provides (i) a means to allow authors to agree on their relative contribution, (ii) an incentive to assign only significant contributors to authorship, and (iii) the appropriate fractional contribution of each author when there are multiple authors. As a result, the sum of citations for any one paper shall be one paper. I believe this proposal the only method suggested, thus far, to make authorship of a biomedical paper authentic.

Alfred Nobel and His Prizes: From Dynamite to DNA.

Alfred Nobel was one of the most successful chemists, inventors, entrepreneurs, and businessmen of the late nineteenth century. In a decision later in life, he rewrote his will to leave virtually all his fortune to establish prizes for persons of any nationality who made the most compelling achievement for the benefit of mankind in the fields of chemistry, physics, physiology or medicine, literature, and peace among nations. The prizes were first awarded in 1901, five years after his death. In considering his choice of prizes, it may be pertinent that he used the principles of chemistry and physics in his inventions and he had a lifelong devotion to science, he suffered and died from severe coronary and cerebral atherosclerosis, and he was a bibliophile, an author, and mingled with the literati of Paris. His interest in harmony among nations may have derived from the effects of the applications of his inventions in warfare ("merchant of death") and his friendship with a leader in the movement to bring peace to nations of Europe. After some controversy, including Nobel's citizenship, the mechanisms to choose the laureates and make four of the awards were developed by a foundation established in Stockholm; the choice of the laureate for promoting harmony among nations was assigned to the Norwegian Storting, another controversy. The Nobel Prizes after 115 years remain the most prestigious of awards. This review describes the man, his foundation, and the prizes with a special commentary on the Nobel Prize in Physiology or Medicine.

A Bacterial Cause of Cancer: An Historical Essay.

This article reviews the history of the discovery of microbes that increase the risk of cancer of some tissues with a special emphasis on the bacterium Helicobacter pylori and the role played by two Australian physicians, neither schooled in research, who had open minds about the shibboleth that mycobacteria (acid-fast organisms) can survive the acid environment of the stomach, but that other pathogenic bacteria cannot. They discovered one of the most important human pathogens, Helicobacter pylori, and showed it capable of inducing severe gastric inflammatory disease. Subsequently, others built on their observations and showed it capable of inducing two gastric neoplasms: carcinoma and lymphoma. The Oncologist 2017;22:542-548.