tbuckley/cabot-search huggingface dataset:
Human genetics of infectious diseases: between proof of principle and paradigm
Authors: Alexandre Alcaïs, Laurent Abel, Jean-Laurent Casanova
Journal: Journal of Clinical Investigation (2009)

The observation that only a fraction of individuals infected by infectious agents develop clinical disease raises fundamental questions about the actual pathogenesis of infectious diseases. Epidemiological and experimental evidence is accumulating to suggest that human genetics plays a major role in this process. As we discuss here, human predisposition to infectious diseases seems to cover a continuous spectrum from monogenic to polygenic inheritance. Although many studies have provided proof of principle that infectious diseases may result from various types of inborn errors of immunity, the genetic determinism of most infectious diseases in most patients remains unclear. However, in the future, studies in human genetics are likely to establish a new paradigm for infectious diseases.
[Lancisi] De Subitaneis Mortibus (On Sudden Death)
Authors: Lester S. King
Journal: JAMA (1971)

Giovanni Maria Lancisi (1654-1720) is little remembered today, although the "striae of Lancisi" may strike a familiar chord in the physician who is not too far removed from his neuroanatomy. But Lancisi, contemporary of Ramazzini, was a leading Italian physician who contributed markedly to our knowledge of aneurysms (his work on this subject was translated almost 20 years ago), and heart disease; and he substantially advanced the correlation of clinical and autopsy findings. In 1705 and 1706 a great number of sudden deaths in Rome attracted considerable attention. Lancisi investigated many of the cases, carefully recorded the clinical history and the clinical course, and described the autopsy findings. He often was able to make significant clinicopathological correlations and he casually introduced much information about medical doctrine and theory at the beginning of the 18th century. In a great many cases the heart was either primarily or secondarily involved, and Lancisi's
Serologic and HLA Associations in Subacute Cutaneous Lupus Erythematosus, a Clinical Subset of Lupus Erythematosus
Authors: Richard D. Sontheimer, Peter J. Maddison, Morris Reichlin, Robert E. Jordon, Peter Stastny, James N. Gilliam
Journal: Annals of Internal Medicine (1982)

We studied the autoimmune serologic features and histocompatibility antigen associations of 27 patients who had a widespread, nonscarring and often photosensitive form of histologically specific cutaneous lupus erythematosus. We designated this disorder as subacute cutaneous lupus erythematosus. Skin lesions from this disorder can be distinguished from scarring discoid lupus erythematosus lesions both on a morphologic and histopathologic basis. Antinuclear and anticytoplasmic antibodies (Ro or Ro and La) and circulating immune complexes were frequently present in patients with subacute cutaneous lupus erythematosus, whereas rheumatoid factor and anti-lymphocyte, anti-DNA, anti-nRNP, and anti-Sm antibodies were found less frequently. Patients having annular skin lesions represented a particularly homogeneous subgroup in which there was a striking concordance of anti-Ro antibodies and the HLA-DR3 phenotype. These studies clearly establish that the presence of these lesions can serve as a cutaneous marker for a distinct subset of patients with lupus erythematosus who share similar clinical, serologic, and genetic features.
Diagnosis of Duchenne muscular dystrophy: experiences of parents of sufferers.
Authors: M A Firth
Journal: BMJ (1983)

Sixty nine parents of boys suffering from Duchenne muscular dystrophy were interviewed at home. The interview explored the parents9 experiences at the time of their son9s diagnosis. Many families had experienced distressing delays (average 2.5 years) between the time they first became aware of symptoms and the time of the diagnosis. On only 18 occasions were both parents told of the diagnosis together. One third of the parents were "not satisfied" with the way the diagnosis had been communicated. Parents want to know as soon as possible if there is something wrong with their child. They should be told the diagnosis together and in private. Full information should be given and a series of contacts should be arranged.
Effects of Dipyridamole and Inhaled Nitric Oxide in Pediatric Patients with Pulmonary Hypertension
Authors: JAMES W. ZIEGLER, D. DUNBAR IVY, JAMES W. WIGGINS, JOHN P. KINSELLA, WILLIAM R. CLARKE, STEVEN H. ABMAN
Journal: American Journal of Respiratory and Critical Care Medicine (1998)

Inhaled nitric oxide (iNO) causes selective pulmonary vasodilation by increasing pulmonary vascular levels of cyclic guanosine monophosphate (cGMP). Dipyridamole, a drug with several putative vasodilator mechanisms, is an inhibitor of cGMP-specific phosphodiesterases (PDE5); it therefore has the potential to increase pulmonary vascular cGMP levels, lower pulmonary vascular resistance, augment iNO-induced pulmonary vasodilation, and attenuate excessive pulmonary vasoreactivity. To test dipyridamole in the pulmonary circulation, we studied pediatric patients undergoing cardiac catheterization who had severe resting pulmonary hypertension (Group 1; n = 11) or exaggerated acute hypoxia-induced pulmonary vasoconstriction (Group 2; n = 4). In Group 1, we compared the effects of iNO (20 ppm), dipyridamole (0.6 mg/kg), and combined treatments (iNO + dipyridamole) on pulmonary and systemic hemodynamics. In Group 2 we measured the pulmonary and systemic effects of dipyridamole while the patients were breathing room air and hypoxic gas mixtures (Fi O2 = 0.16). One patient in Group 1 had a hypotensive response to dipyridamole and was exluded from study. In the remaining 12 studies done on 10 patients, iNO caused a selective decrease in mean pulmonary artery pressure (Ppa) and indexed pulmonary vascular resistance (PVRI) without affecting mean aortic pressure (Pao) or indexed systemic vascular resistance (SVRI). Dipyridamole decreased PVRI to similar values as did iNO, but this effect was primarily due to an increase in cardiac index (CI), and was not associated with any change in Ppa, and was associated with a decrease in Pao and SVRI. In comparison with individual treatments, combined therapy (iNO + dipyridamole) did not augment pulmonary vasodilation in the group as a whole; however, in 50% of patients, combined therapy decreased PVRI by 20% more than did iNO or dipyridamole alone. In Group 2, Ppa and the pulmonary-to-systemic resistance ratio (Rp/Rs) increased to suprasystemic levels during acute hypoxia. Pretreatment with dipyridamole blunted the increase in Ppa and Rp/Rs during repeat hypoxia, keeping Ppa at a subsystemic level and Rp/Rs < 1. We conclude that: (1) dipyridamole nonselectively reduces PVRI, primarily through an increase in CI; (2) in combination with iNO, dipyridamole augments the decrease in PVRI in some patients; and (3) dipyridamole blunts the severity of acute hypoxic pulmonary vasoconstriction in children with exaggerated hypoxic pressor responses.
The Cellular Basis of Site-Specific Tumor Metastasis
Authors: Jeffrey S. Flier, Lisa H. Underhill, Bruce R. Zetter
Journal: New England Journal of Medicine (1990)

THE year 1989 marked the 100th anniversary of the publication of a seminal paper in the study of the biology of human tumors. Stephen Paget, having collected the autopsy records of 735 patients who died of breast cancer, noted that the majority of the metastatic lesions were found in the liver and brain, whereas other organs, such as the kidney and spleen, were much less frequently involved. Paget inferred from this observation that certain tumors were predisposed to spread to particular tissues, on the basis of the tissue's ability to support the growth of these tumors.1 He likened this process . . .
Circadian Rhythm of Renin and Aldosterone in Unilateral Renovascular Hypertension
Authors: C. E. Grim
Journal: Annals of Internal Medicine (1974)

The circadian rhythm of plasma renin activity and plasma aldosterone levels was determined in 11 normal subjects and 7 patients with unilateral renovascular hypertension, while upright and while recumbent. Plasma renin activity tended to be higher in patients with unilateral renovascular hypertension than in the normal subjects. Every patient with unilateral renovascular hypertension had an elevated plasma renin activity with 12 hours of upright posture. Changes in plasma aldosterone levels were not as striking. Three patients were restudied after surgical correction of their unilateral renovascular hypertension: the circadian rhythm had returned to normal, and the plasma renin activity and plasma aldosterone levels had decreased from preoperative values. These results suggest that chronic unilateral renovascular hypertension is associated with activation of the renin-angiotensin-aldosterone system, which results in increased circulating levels of plasma renin activity (at least during certain times of the day), when carefully tested.
Health‐related quality of life in chronic hepatitis B patients†
Authors: Siew Chin Ong, Belinda Mak, Myat Oo Aung, Shu‐Chuen Li, Seng‐Gee Lim
Journal: Hepatology (2008)

The relationship between stages of chronic hepatitis B liver disease and health-related quality of life (HRQoL) is an important aspect of the overall management of hepatitis B virus (HBV) infection, yet is not well characterized. Consequently we sought to examine HRQoL in HBV patients, stratified by disease severity, compared with normal controls and hypertensive patients, using the Short Form 36 Health Survey (SF-36) and the EQ-5D self-report questionnaire. Univariate and multivariate analyses were then performed. A total of 432 HBV (156 asymptomatic carriers, 142 chronic hepatitis B, 66 compensated cirrhosis, 24 decompensated cirrhosis, 22 hepatocellular carcinoma, and 22 post–liver transplant) patients, 93 hypertensive patients, and 108 normal controls participated in the study. Multivariate analysis showed that normal controls and asymptomatic carriers had similar SF-36 scores, which were better than those for hypertensive patients, but with development of chronic hepatitis B and compensated cirrhosis, showed a significant decrease in general health and the mental dimension, whereas those with advanced liver disease (decompensated cirrhosis and hepatocellular carcinoma) had significantly lower scores in all components (P < 0.05), indicating that the physical component deteriorates only with advanced liver disease. Similar results were obtained with EQ5D. Post–liver transplant patients had similar HRQoL to patients with decompensated cirrhosis and hepatocellular carcinoma, although there was a trend toward improvement. Conclusion: Our results showed that HRQoL in asymptomatic carriers is comparable to those of normal controls and better than hypertensive patients, but deteriorates with disease progression, initially in general health and mental dimensions, but with advanced disease all dimensions are affected. (HEPATOLOGY 2008.)
Sickle States: Clinical Features in West Africans
Authors: Thomas W. Sheehy
Journal: JAMA (1972)

This timely and interesting monograph deals with sickle cell disease and other inherited hemoglobinopathies found in West Africans. Much of the text is written in a clear, crisp style that effectively describes the clinical aspects of the disease in a panoramic style. The chapters dealing with sickle cell disease in infancy, childhood, and maturity, and those stressing the complications encountered by the afflicted during pregnancy and surgery are extremely comprehensive and will be of interest to physicians managing sickle cell patients with these problems. The influence of malaria on the course of sickle cell disease and its effect on the spleen is emphasized vividly. Malaria is the chief cause of morbidity and mortality in West Africans with sickle cell disease. The interrelationships of sickle cell with glucose 6-phosphate deficiency and thalassemia are also described effectively from the clinician's standpoint. Pertinent illustrations and highly informative tables accompany each clinical chapter. Rather
Preparation of Clean Chemical Solutions
Authors: G. E. Harrison, W. H. A. Raymond
Journal: BMJ (1951)

ADRENAL CORTICAL FUNCTION TO SCURVY MDICLJRffNHAL (1950) found no change in the ascorbic acid content of chick adrenals even though corticosteroids were released.While our experiments were in progress Nadel and Schneider (1951) reported that the "formaldehydo- genic substances" in guinea-pig urine showed a five- fold increase in the later stages of scurvy.A.C.T.H. can produce a fall in the level of circulating cosinophils in scorbutic animals, as shown by Eisenstein and Shank (1951).From this, and the fact that scurvy is accompanied by adrenal hypertrophy, they concluded that ascorbic acid was not essential for adrenal function and not directly concerned in the formation and release of I I-oxysteroids.Our experiments seem to confirm an increase of adrenal cortical activity in scurvy as judged by adrenal hyp-rtrophy, and an increase of cortical hormone from the increase of 17-ketosteroid excretion.Both of these changes are reversible by cortisone, although this has no effect on the disease.A.C.T.H. is capable of causing additional hypertrophy.The 17-ketosteroid excretion is certainly increased during the earlier stages of the devel- opment of scurvy, but in the fully scorbutic animal, even in the absence of exogenous A.C.T.H., it appears to be nearly maximal.A much larger number of observations must be made before it is definitely estab- lished whether the output of these substances is significantly increased under these conditions by A.C.T.H.The balance of evidence favours the view that adrenal cortical activity is increased in scuirvy, and can be further increased, in the absence of vitamin C, by A.C.T.H. Summary Guinea-pigs placed on a scorbutic diet showed a gradual well-marked increase of varying extent in urinary 17- ketosteroid excretion.This reached a peak in the terminal phases.Daily administration of A.C.T.H. and cortisone failed to influence the fall in body weight and subsequent death of the animals on a scorbutic diet.Such animals showed sinilar manifestations of scurvy as untreated scorbutic controls.We are grateful for the statistical assistance given us by Mr. P.
Gender Disparities in Health Care
Authors: Betty C. Jung
Journal: JAMA (1991)

To the Editor.  —I have just finished reading the Council on Ethical and Judicial Affairs report on Gender Disparities in Clinical Decision Making 1 and the accompanying articles related to it. 2,3 Although there was much emphasis placed on gender disparities in clinical decision making in diagnostic and therapeutic interventions, not one sentence or passing thought was given to how the gender of the physician may have an impact on these medical processes.  It appears that the articles' assumptions were that all  are men. It may then very well be true that male physicians should examine their practices and attitudes for the influence of social or cultural biases that could affect medical care.  1   I don't think expanding research on the female patient population is going to provide revelations that will improve the current problems of gender disparity in the provision of medical care. If patient gender is making
Patients admitted to hospital from care homes are at higher risk of dehydration, study finds
Authors: J. Wise
Journal: BMJ (2015)

Care home residents are 10 times more likely to be dehydrated when admitted to hospital than patients who live in their own home, a retrospective observational study has found. As a result, care home patients seem to have significantly greater risks of in-hospital mortality.

The research, published in the Journal of the Royal Society of Medicine ,1 included 21 610 patients aged over 65 who were admitted to a London trust hospital over a two year period from 2011 to 2013. Patients had …
TWO DIFFERENT TYPES OF POST-TRAUMATIC NEUROSES
Authors: ALEXANDRA ADLER
Journal: American Journal of Psychiatry (1945)

1. The incidence of post-traumatic neuroses varies considerably since the development of psychogenic disturbance depends upon emotional factors related to the accident. Terrifying events, such as the Cocoanut Grove fire disaster, have a higher incidence of neuroses traceable to the circumstance of the accident than the everyday head injuries in civilians. 2. A differentiation can be made between "fear neurosis" and "conflict neurosis" as such conditions are designated by Symonds. The former are characterized by emotional disturbance and nightmares immediately following the accident, which recapitulate the circumstances of the injury. This type of neurosis developed in 54 percent of the victims of the Cocoanut Grove disaster, who had gone through a harrowing experience. The latter type occurred in about one-third of our series of head injury patients. Here, as a rule, the neurosis developed after an interval, at a time when the patients were physically fit to return to their duties. Nightmares were characteristic for these patients but they, too, occurred after an interval, usually during the first or second week after the patients had returned home and were faced with return to their former activities, which were charged with conflicts These conflicts were mainly related to financial, occupational or domestic difficulties. 3. No post-traumatic hysteria occurred in any of the Cocoanut Grove disaster patients or in any of the 200 cases with head injuries, all of whom had been hospitalized immediately following injury. It seems that, at present, hysteria hardly ever develops under the eyes of the physician but that we are usually faced with the fully developed condition.
CAUSE OF IMMEDIATE DEATH BY LARGE DOSES OF BOTULINUS TOXIN
Authors: Jacques J. Bronfenbrenner, Monroe J. Schlesinger, Paul F. Orr
Journal: The Journal of Experimental Medicine (1924)

Parenteral introduction of amounts of the culture filtrate of Bacillus botulinus greatly in excess of the minimum lethal dose has been observed to cause the practically immediate death of mice. This result is due to the presence in the filtrates of a chemical poison possessing properties distinct from those of the contained botulinus toxin which itself acts only after a well defined period of incubation. This chemical poison is not neutralized by botulinus antitoxin; it is effective only when large amounts of the culture filtrate are given; it is thermostable, not being destroyed when heated in the autoclave in a sealed tube, though when it is heated in an open container its toxicity diminishes with a coincidental volatilization of basic material. The volatile substance can be identified as ammonia. Death resulting from the injection of comparatively large amounts of ammonium salts (0.1 gm.) is easily distinguished from that due to botulism, both through the character of the symptoms and the absence of an incubation period. However, when the amount of toxic salts injected is smaller (0.01 gm.), the symptoms of poisoning are not so characteristic and death may be delayed long enough to suggest a period of incubation similar to that observed in botulism (Table IV). This circumstance is of importance in connection with the examination of partly decomposed food products in which the presence of botulinus toxin is suspected. As a rule such suspected material is injected in massive doses (0.5 to 1 cc.) in mice. It is conceivable that such spoiled foods may be contaminated with common putrefactive bacteria yielding ammonia during their growth and thus may cause death of the test animals. If in such tests mice passively protected by the preliminary injection of an excess of antitoxin be used in addition to normal animals, the chances of an error in the interpretation of the results will be materially reduced, though not ruled out. Unfortunately for such a procedure, botulinus antitoxin is not readily available, while furthermore, recent findings indicate that it may not always be effective owing to the existence of a group of toxin-producing bacteria very similar to Bacillus botulinus, but not homologous immunologically with either of the known types of the latter. The test of thermostability of the toxic constituents of suspected food may conceivably help to determine the true nature of the poison.
The Philippine Islands.
Authors: W. P. Whery
Journal: JAMA (1898)

Fort Wayne, Ind., July 10, 1898. <h3>To the Editor:</h3> —The prospect that the Philippine Islands may come under American rule suggests a matter of interest to the medical profession. The population of the islands is large and the country is very slightly explored. It will become necessary to send from the United States a number of men who will aid the administration there and who must combine scientific attainments and a habit of accurate observation with an occupation that will recommend them to the favor of the inhabitants of the group. It is obvious that the medical profession alone can furnish such agents. Missionaries would come into collision with the religious prejudices of the people and traders would not possess the requisite training to study the ethnology, natural history, geology, economics and diseases of the Philippines. An immense store of invaluable information would be collected by men working in a
Paraneoplastic Acrokeratosis (Bazex Syndrome) in Lung Cancer
Authors: Antonio Crucitti, Claudio Feliciani, Ugo Grossi, Antonio La Greca, Venanzio Porziella, Piero Giustacchini, Maria Teresa Congedo, Pietrangelo Fronterré, Pierluigi Maria Granone
Journal: Journal of Clinical Oncology (2009)
The lymphatic vascular system in liver diseases: its role in ascites formation
Authors: Chuhan Chung, Yasuko Iwakiri
Journal: Clinical and Molecular Hepatology (2013)

The lymphatic system is part of the circulatory system and plays a key role in normal vascular function. Its failure plays a crucial role in the development and maintenance of various diseases including liver diseases. Lymphangiogenesis (the growth of lymphatic vessels) and changes in the properties of lymphatic vessels are associated with pathogenesis of tumor metastases, ascites formation, liver fibrosis/cirrhosis and portal hypertension. Despite its significant role in liver diseases and its importance as a potential therapeutic target for those diseases, the lymphatic vascular system of the liver is poorly understood. Therefore, how the lymphatic vascular system in general and lymphangiogenesis in particular are mechanistically related to the pathogenesis and maintenance of liver diseases are largely unknown. This article summarizes: 1) the lymphatic vascular system; 2) its role in liver tumors, liver fibrosis/cirrhosis and portal hypertension; and 3) its role in ascites formation.