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Drug abuse in pregnancy: Marijuana, LSD, cocaine, amphetamines, alcohol, and opiates
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Jacquelyn C. Howitt, Anita Bublik-Anderson
Alcohol, a small molecule that is readily absorbed from the gastrointestinal tract and distributed throughout the body, is oxidized in the liver by the enzyme alcohol dehydrogenase (3) and metabolized to acetaldehyde, acetate, and then to acetyl coenzyme A. It is further oxidized via the citric acid cycle or is utilized in various anaerobic reactions. Metabolism of alcohol results in increased production of lactate and fatty acids. The consumption of excessive alcohol can result in hypertension, slurred speech, staggering gait, ketoacidosis, myopathy, hepatomegaly, pancreatitis, other upper gastrointestinal disorders, malabsorption and vitamin deficiencies, mood swings, memory lapses, blackouts, other neurobehavioral disorders, hematologic disorders, and cardiac dysfunction (3,57). Evaluation of complete blood count, red blood cell indices, liver function tests, and urine assessment for ketones is recommended.
Hematopoiesis and Storage Iron in Infants
Published in Bo Lönnerdal, Iron Metabolism in Infants, 2020
The physiological individuality of the serum ferritin values within the normal range suggests similar physiological “channels” for serum ferritin36 as found for hemoglobin concentration and red blood cell indices.45 Serum ferritin has proved to be a useful test in evaluating iron nutrition in groups of infants. The level of serum ferritin correlates well with iron intake, and low ferritin levels are associated with low transferrin saturation.36 An unexpected finding has been a rise of the serum ferritin values during the latter half of infancy in many of the infants not supplemented with iron and with low serum ferritin values at 6 months of age.36 One might speculate that the initially lower iron stores at 6 months of age and the subsequent follow-up without supplementation could induce enhanced absorption of iron and through this compensation even improve the iron status in many infants. However, this explanation is hypothetical and based on other studies indicating that depleted iron stores can enhance the bioavailability of iron.65,66
Ketogenic Diets
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
Douglas R. Nordli, Dorcas Koenigsberger, Joanne Schroeder, Darryl C. de Vivo
Prior to the initiation of the diet, a nutrition support team or registered dietician (RD) performs a comprehensive assessment. A history of any prior gastrointestinal problems, food allergies, and feeding difficulties, such as problems with sucking, swallowing, and chewing, are elicited. Various anthropomorphic measurements are obtained and charted. These include the patient’s weight, height, usual weight, weight pattern since birth, and head circumference. Weight-for-age and height-for-age are plotted, and ideal body weight-for-height is determined. Laboratory data are used as another tool for nutritional assessment of the patient. Commonly, these tests should include serum proteins, lipid profile, baseline electrolytes, hemoglobin, hematocrit, and red blood cell indices.
Stepping out of antiquity: An update on emerging drugs for the treatment of polycythemia vera
Published in Expert Opinion on Emerging Drugs, 2021
Franco Castillo Tokumori, Rami Komrokji, Andrew T. Kuykendall
PV often results in iron deficiency due to increased iron utilization via erythropoiesis. This is exacerbated by the need for continued phlebotomies. In turn, iron deficiency leads to suppressed hepcidin levels which allows for increased absorption and distribution of iron allowing for continued erythropoiesis. In mouse models of PV, systemic iron restriction induced by administration of hepcidin agonists limited iron supply to erythropoiesis; thus, reducing hemoglobin concentrations and decreased splenomegaly [61]. PTG-300 (rusfertide) is a hepcidin mimetic hypothesized to control hematocrit via by restricting iron utilization. An ongoing phase 2 study [NCT04057040] is evaluating the therapeutic potential of PTG-300 in PV patients who require phlebotomies. Interval results presented at the American Society of Hematology (ASH) 2020 annual meeting showed PTG-300 was able to dramatically reduce phlebotomy requirements and increase ferritin levels. Red blood cell indices such as mean cell volume (MCV) and mean corpuscular hemoglobin concentration (MCHC) which often reflect impaired iron utilization were shown to normalize during treatment with PTG-300. This agent was tolerable with the predominant side effect being infusion reactions associated with its subcutaneous administration.
Serum hepcidin concentrations in relation to iron status in children with type 1 diabetes
Published in Pediatric Hematology and Oncology, 2020
Mirjam Vreugdenhil, Marjolijn D. Akkermans, Rachel P. L. van Swelm, Coby M. Laarakkers, Euphemia C. A. M. Houdijk, Boudewijn Bakker, Agnes Clement-de Boers, Daniëlle C. M. van der Kaay, Martine C. de Vries, M. Claire Woltering, Dick Mul, Johannes B. van Goudoever, Frank Brus
Differences in response of iron parameters over time, may explain why hepcidin concentrations do not correspond with iron parameters used to define FID in T1D children. Red blood cell indices, such as MCV, hypochromic red cells, RDW and ZnPP/H, reflect the circulating population of mature red blood cells. As erythrocytes have an average lifespan of approximately 120 days, red blood cell indices may not reflect “current” iron status or changes in iron availability. Reticulocytes are the earliest forms of erythrocytes, and remain in the circulation for approximately 1–2 days. Reticulocyte-specific indices, like Ret-He, therefore are more sensitive to acute changes in iron availability, and represent a more “current” iron status than red blood cell indices. However, hepcidin acts as an acute phase reactant, and is known to decline very rapidly after an inflammatory signal has been cleared.36 Slower reacting iron parameters such as ZnPP/H and RDW, and even Ret-He, might therefore not correspond with hepcidin concentrations in our study.
Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China
Published in Hematology, 2022
Jiangfen Wu, Dan Xie, Lei Wang, Ying Kuang, Shulin Luo, Lingyan Ren, Di Li, Aiping Mao, Jiaqi Li, Libao Chen, Bangquan An, Shengwen Huang
The rare variant c.−100G > A in the HBB gene detected by TGS was validated by Sanger sequencing (Figure 1). c.−100G > A was identified as a likely rare β+ thalassemia variant [18–20]. The patient with heterozygous c.−100G > A variant was an 18-year-old male with no clinical symptoms, and he also carried a heterozygous –SEA deletion. Red blood cell indices showed that the cells were microcytic but the hemoglobin level in the cells was normal (Hb 136 g/L, MCV 68.8 fl, MCH 21.1 pg, MCHC 307 g/L).