G6PD deficiency is a common genetic trait that can protect heterozygotes from dying from malaria

2021 ◽  
Author(s):  
Moataz Dowaidar

G6PD deficiency is a common genetic trait that can protect heterozygotes from dying from malaria (save in the extremely tiny fraction of individuals who have CNSHA). AHA in a G6PD-deficient child or adult, on the other hand, is a medical emergency that, if not treated promptly and properly, can be fatal. Fava bean consumption is the most common cause of AHA: favism is seen in at least 35 countries, with thousands of cases reported each year. Both primaquine and rasburicase have been linked to iatrogenic deaths in the same and other nations, and these deaths may have been averted. Population screening and health education, as well as the cultivation of fava bean types with nil or low vicine and convicine levels, can help to prevent fascism. G6PD biology is eminently interdisciplinary, having served as a model system in biochemical genetics and in understanding how the red cell responds to oxidative stress; a tool for studying X-chromosome inactivation (human development's most spectacular epigenetic event); a tool for studying clonal populations for years; and a pioneer in the molecular genetics of enzymopathies.

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Siddharth Patel ◽  
Nagendra Pokala ◽  
Rohan Menon ◽  
Anna Kotsia ◽  
Vijay Raja ◽  
...  

Background: In percutaneous coronary intervention (PCI) of coronary chronic total occlusions (CTOs), inability to cross the lesion with a balloon is the second most common cause of technical failure following inability to cross the lesion with a guidewire. While various techniques have been reported for such "balloon uncrossable" CTOs, the frequency and outcomes of these techniques have received limited study. Methods: We retrospectively examined 373 consecutive CTO PCIs performed at our institution between 2005 and 2013 to determine the frequency and outcomes of “balloon uncrossable” CTOs. Results: Mean age was 63.7 ± 8.3 years and 98.9% of the patients were men. Twenty four patients (6.4%) were found to have a "balloon uncrossable" CTO. These patients had similar clinical and angiographic characteristics compared to the other CTO PCI patients (Table). Successful crossing of the lesion was achieved in 22 of 24 patients (91.7%) using a variety of techniques, such as successive balloon inflations (43.5%), microcatheter advancement (21.7%), laser (8.7%), increased guide catheter support (13.0%), and subintimal lesion crossing (13.0%) (Figure). Patients with “balloon uncrossable” CTOs had longer procedure time (184.5 ± 77.9 vs. 134.0 ± 69.0 min, p<0.01), fluoroscopy time (55.2 ± 24.9 vs. 37.9 ± 20.8 min, p<0.01), and received higher contrast volume (404.4 ± 137.9 vs. 351.7 ± 138.5 ml, p=0.085), but had similar incidence of major complications (8.3% vs. 3.2%, p=0.25) compared to patients without “balloon uncrossable” CTOs. Conclusion: “Balloon uncrossable” CTOs occur in 6.4% of contemporary CTO PCIs and can be successfully treated in most patients using a variety of techniques.


Pteridines ◽  
1989 ◽  
Vol 1 (1) ◽  
pp. 65-69 ◽  
Author(s):  
Karin S. Vitols ◽  
Yolanda D. Montejano ◽  
Ulrike Kuefner ◽  
F. M. Huennekens

Summary Methotrexate ex-pep tides (derivatives in which an amino acid is linked covalently to the ex-carboxyl of the glutamate residue on the parent drug) can be hydrolyzed by specific carboxypeptidases to yield free Methotrexate (MTX) and the corresponding amino acid. Studies with L12l0 cells in suspension culture have shown that the MTX pep tides can serve as "pro-drugs": Because of their inability to be taken up by cells, they are relatively non-toxic. When co-administered with appropriate carboxypeptidases, however, they become equitoxic with MTX. In the present investigation, the potential of the MTX-ala/carboxypeptidase A combination for providing regional cytotoxicity was demonstrated in a model system involving L12l0 cells propagated in semi-solid agarose. When cells and one of the components (MTX peptide or carboxypeptidase) were distributed uniformly throughout the agarose, and the other component was immobilized at the center, a discrete zone of cell kill radiated from the fixed component. These results suggest the possibility of developing a new mode of cancer chemotherapy involving circulating MTX peptides in conjunction with carboxypeptidases linked covalently to tumor-targeted monoclonal antibodies.


1988 ◽  
Vol 250 (2) ◽  
pp. 407-414 ◽  
Author(s):  
M J Tanner ◽  
S High ◽  
P G Martin ◽  
D J Anstee ◽  
P A Judson ◽  
...  

We have studied the DNA of individuals who express an altered sialoglycoprotein beta on their red cells by using Southern blotting with sialoglycoprotein-beta cDNA probes. Individuals of the Leach phenotype do not express any beta (sialoglycoprotein beta) or gamma (sialoglycoprotein gamma) on their red cells, and we show that about 7 kb of DNA, including the 3′ end of the beta gene, is deleted in this DNA. Any protein product of this gene is likely to lack the membrane-associating domain of beta. We have also examined the DNA of two types of other individuals (Yus-type and Gerbich-type) who have red cells that lack beta and gamma, but contain abnormal sialoglycoproteins related to beta. These two types of DNA contain different internal deletions of about 6 kb in the beta gene. We suggest that these deletions result from the presence of two different sets of internal homology in the beta gene, and on this basis we propose structures for the abnormal Yus-type and Gerbich-type sialoglycoproteins which are consistent with the other evidence that is available. We provide evidence that beta and gamma are products of the same gene and suggest a possible mechanism for the origin of gamma based on leaky initiation of translation of beta mRNA.


1973 ◽  
Vol 12 (3) ◽  
pp. 911-923
Author(s):  
R. J. SKAER

Acetylcholinesterase is present in human red cells but cannot be demonstrated by the copper thiocholine test. The enzyme is revealed, however, in the perinuclear cisterna, endoplasmic reticulum and Golgi apparatus of red cell precursors. It is suggested that 2 forms of the enzyme are present, one of which can be demonstrated by the copper thiocholine test, the other cannot; one form may be the precursor of the other. These observations may cast light on the kinetics of red cell replacement and on the interpretation of the results from the copper thiocholine test on other tissues such as the nervous system.


1993 ◽  
Vol 177 (1) ◽  
pp. 113-128 ◽  
Author(s):  
D. Barlow ◽  
M. A. Sleigh ◽  
R. J. White

Patterns of water flow around steadily beating comb plates of Pleurobrachia pileus were tracked using suspended plastic beads. The positions of the beads and the comb plates in the plane of the central longitudinal axis of the comb row were digitised from high-speed cine films covering several beat cycles. All of the data from each sequence were combined using a computer program which integrated them into a standard cycle, and the resulting data were plotted by a second computer program to produce charts for different stages in the beat cycle showing the flow velocity at a grid of points. On these charts, contour maps were drawn to indicate the speed and direction of the water flow. Water is drawn towards each comb row from ahead and from the sides and accelerates strongly backwards in a fairly narrow stream which joins those from the other seven comb rows at the rear of the animal. At a beat frequency of 10 Hz the comb plates move with a tip speed of up to 70 mm s-1 in their effective stroke; they have an estimated Reynolds number of 9 in this stroke. Changes in inter- plate volume between adjacent antiplectically coordinated plates are very important in propulsion, particularly near the end of the effective stroke when pairs of adjacent plates close together and cause the high-speed water from around the ciliary tips to be shed into the overlying stream as a series of jets at speeds of 50 mm s-1 or more. The antiplectic coordination of the comb plates makes a major contribution to the efficiency of propulsion.


Author(s):  
Robert Christman

Chapter Four investigates the responses of various opponents of Reformation ideas emanating from the Reformed Augustinian cloisters of Lower Germany. After the Diet of Worms (1521), pope and emperor made common cause with forces already arrayed against religious dissent in Lower Germany. This chapter traces the development of the campaign against the Antwerp Augustinians, which quickly expanded to include the other six Reformed Augustinian cloisters of Lower Germany. It also explores the pope’s response to these Augustinians as it relates to his capacious efforts to limit Reformed Augustinian influence throughout the empire. The chapter demonstrates that key authorities understood the Reformed Augustinians as a threat, and that the response to that threat was an important element in the early Reformation.


Author(s):  
Christopher J. Ellis

Infection is most often suspected when patients present with pyrexia and is certainly the most common cause of this presentation, whether in hospitalized patients or those in the community. The other principal causes of fever are primary inflammatory conditions and malignancy, but infections are likely to be most rapidly progressive and acutely life-threatening and hence must be the physician’s first concern....


1963 ◽  
Vol 204 (4) ◽  
pp. 626-640 ◽  
Author(s):  
Carl A. Goresky

Multiple indicator dilution studies of the hepatic circulation in the dog were carried out using labeled red cells, albumin, inulin, sucrose, sodium, urea, water, and T-1824. The materials were completely recovered in the outflow. Concentrations were expressed as fractions of the injected mass. The outflow pattern of each of the substances was displaced relative to the red cell curve, showing a lower peak concentration and longer transit time. The displacement was largest for water and urea, least for albumin and T-1824, intermediate for inulin, sucrose, and sodium. The results were analyzed using a flow-limited linear two-compartment model system. The analysis yielded estimates of sinusoidal blood volume and of the extravascular volumes of distribution of the diffusible labels. Water and urea volumes agreed with the liver weights and this agreement was taken as validation of the method of analysis. Volumes calculated for the other presumably extracellular substances demonstrated that the rapidly available extracellular space diminishes with increase in the molecular weight of the substance.


2020 ◽  
Vol 8 ◽  
pp. 232470962090595
Author(s):  
Michael Chahin ◽  
Hardik Chhatrala ◽  
Nithya Krishnan ◽  
Darren Brow ◽  
Lara Zuberi

Breast cancer is the leading malignancy and the second most common cause of mortality in women. Although there have been advances in identifying biomarkers as potential targets for therapy, triple-negative breast cancer (TNBC) continues to have a poorer prognosis than the other receptor subtypes. The most common sites of metastasis are bone, liver, lung, and brain. We present a patient with known TNBC presenting with nausea and vomiting in whom computed tomography revealed a right-side pelvic mass causing hydronephrosis. Biopsy was consistent with TNBC of the ureter, an unusual site for breast cancer involvement. She required ureteral stent placement to relieve obstruction and has had good response to paclitaxel. Hydronephrosis due to malignancy presents significant risk of morbidity and mortality due to compromised renal function and must be resolved promptly to avoid compromise of renal function.


2016 ◽  
pp. 191-193
Author(s):  
Jasper M. Morrow ◽  
Janice L. Holton ◽  
Chris Turner
Keyword(s):  

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