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1.
J Assoc Genet Technol ; 50(1): 19-23, 2024.
Article in English | MEDLINE | ID: mdl-38447191

ABSTRACT

OBJECTIVES: Identifying therapy-related AML (t-AML) of newly diagnosed acute leukemias is of great interest. Development of t-AML can occur after cytotoxic chemotherapy and/or radiation. We report a case of t-AML with CBFB::MYH11 fusion in a patient with a distant history of treated stage IIIB nodular sclerosing Hodgkin's lymphoma. We present the clinical course of the patient and the methods used to detect and monitor the rearrangement. Core binding factor AML (CBF-AML) after exposure to treatment is considered to be a good prognostic marker. The identification of these favorable AML subtypes such as CBF-AML highlights the importance of identifying genetic alterations, especially with increasing incidences of t-AML due to changes in choice of treatment and prognosis.

2.
Evolution ; 71(4): 923-935, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28128447

ABSTRACT

Comparative methods are often used to infer loss or gain of complex phenotypes, but few studies take advantage of genes tightly linked with complex traits to test for shifts in the strength of selection. In mammals, vomerolfaction detects chemical cues mediating many social and reproductive behaviors and is highly conserved, but all bats exhibit degraded vomeronasal structures with the exception of two families (Phyllostomidae and Miniopteridae). These families either regained vomerolfaction after ancestral loss, or there were many independent losses after diversification from an ancestor with functional vomerolfaction. In this study, we use the Transient receptor potential cation channel 2 (Trpc2) as a molecular marker for testing the evolutionary mechanisms of loss and gain of the mammalian vomeronasal system. We sequenced Trpc2 exon 2 in over 100 bat species across 17 of 20 chiropteran families. Most families showed independent pseudogenizing mutations in Trpc2, but the reading frame was highly conserved in phyllostomids and miniopterids. Phylogeny-based simulations suggest loss of function occurred after bat families diverged, and purifying selection in two families has persisted since bats shared a common ancestor. As most bats still display pheromone-mediated behavior, they might detect pheromones through the main olfactory system without using the Trpc2 signaling mechanism.


Subject(s)
Biological Evolution , Chiroptera/physiology , Signal Transduction , Transient Receptor Potential Channels/genetics , Vomeronasal Organ/physiology , Animals , Chiroptera/genetics , Evolution, Molecular , Phylogeny , Pseudogenes , Sequence Analysis, DNA , Transient Receptor Potential Channels/metabolism
3.
Am J Clin Nutr ; 75(4): 734-42, 2002 Apr.
Article in English | MEDLINE | ID: mdl-11916761

ABSTRACT

BACKGROUND: Iron deficiency without anemia has been shown to reduce both muscle-tissue oxidative capacity and endurance in animals. However, the consequences of iron deficiency in humans remain unclear. OBJECTIVE: We investigated the effects of iron supplementation on adaptation to aerobic training among marginally iron-depleted women. We hypothesized that iron supplementation for 6 wk would significantly improve iron status and maximal oxygen uptake (VO(2)max) after 4 wk of concurrent aerobic training. DESIGN: Forty-one untrained, iron-depleted, nonanemic women were randomly assigned to receive either 50 mg FeSO(4) or a placebo twice daily for 6 wk in a double-blind trial. All subjects trained on cycle ergometers 5 d/wk for 4 wk, beginning on week 3 of the study. RESULTS: Six weeks of iron supplementation significantly improved serum ferritin and serum transferrin receptor (sTfR) concentrations and transferrin saturation without affecting hemoglobin concentrations or hematocrit. Average VO(2)max and maximal respiratory exchange ratio improved in both the placebo and iron groups after training; however, the iron group experienced significantly greater improvements in VO(2)max. Both iron-status and fitness outcomes were analyzed after stratifying by baseline sTfR concentration (> and < or = 8.0 mg/L), which showed that the previously observed treatment effects were due to iron-status and fitness improvements among subjects with poor baseline iron status. CONCLUSIONS: Our findings strongly suggest that iron deficiency without anemia but with elevated sTfR status impairs aerobic adaptation among previously untrained women and that this can be corrected with iron supplementation.


Subject(s)
Adaptation, Physiological , Exercise , Ferrous Compounds/therapeutic use , Iron Deficiencies , Adult , Analysis of Variance , Anthropometry , Diet , Double-Blind Method , Female , Humans , Nutritional Status , Oxygen Consumption
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