- Macrocytic anemia in Lesch-Nyhan disease and its variants. [Journal Article]
- GMGenet Med 2018 Jun 06
- CONCLUSIONS: These results establish macrocytic erythrocytes as a very common aspect of the clinical phenotype of Lesch-Nyhan disease and its neurological variants. Macrocytosis is so characteristic that its absence should prompt suspicion of a secondary process, such as iron deficiency. Because macrocytosis is uncommon in unaffected children, it can also be used as a clue for early diagnosis in children with neurodevelopmental delay. Better recognition of this characteristic feature of the disorder will also help to prevent unnecessary diagnostic testing and unnecessary attempts to treat it with folate or B12 supplements.
- GeneReviews® [BOOK]
- BOOKUniversity of Washington, Seattle: Seattle (WA)
- The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-h...
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
- StatPearls [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- Anemia is a condition of low hemoglobin (Hb). It can be subdivided several different ways: symptomatic versus nonsymptomatic, or more frequently, by laboratory findings such as macrocytic versus micr...
Anemia is a condition of low hemoglobin (Hb). It can be subdivided several different ways: symptomatic versus nonsymptomatic, or more frequently, by laboratory findings such as macrocytic versus microcytic or normochromic versus hypochromic. Normal Hb-specific laboratory cut-offs will differ slightly, but in general, the normal ranges are as follows: 135 to 180 g/L in men. 120 to 150 g/L in women. 110 to 160 g/L in children. Varied in pregnancy depending on the trimester, but generally greater than 100 g/L. Although there are conditions where much lower hemoglobin levels are acceptable, patients require a transfusion if they are symptomatic with a hemoglobin of less than 70 g/L, or less than 90 g/L if they have cardiac disease due to the increased risk of impaired perfusion of the myocardium in anemia.
- Thrombotic Microangiopathy-Like Hemolysis in Vitamin B12 Deficiency-Related Macrocytic Anemia. [Case Reports]
- CLClin Lab 2018 Apr 01; 64(4):639-643
- CONCLUSIONS: In elderly patients exhibiting hemolytic features in association with macrocytic anemia, vitamin B12 deficiency should be considered in the differential diagnosis.
- Age and CD4 count are dominant factors in the prediction of anaemia in Javanese HIV patients. [Journal Article]
- APAsia Pac J Clin Nutr 2018; 27(3):649-654
- CONCLUSIONS: Age and CD4 count are the dominant factors in determining of anaemia in Javanese patients with HIV infection.
- Significantly higher frequencies of hemoglobin, iron, vitamin B12, and folic acid deficiencies and of hyperhomocysteinemia in patients with Behcet's disease. [Journal Article]
- JFJ Formos Med Assoc 2018 Apr 28
- CONCLUSIONS: There are significantly higher frequencies of hemoglobin, iron, vitamin B12, and folic acid deficiencies and of hyperhomocysteinemia in BD patients. The normocytic anemia is the most common type of anemia in our 63 BD patients. We suggest that supplementations of vitamin BC capsules plus deficient vitamin B12 and/or folic acid may reduce the abnormally high serum homocysteine level to a relatively lower level in BD patients with hyperhomocysteinemia.
- Black cohosh extracts and powders induce micronuclei, a biomarker of genetic damage, in human cells. [Journal Article]
- EMEnviron Mol Mutagen 2018 Apr 18
- Black cohosh extract (BCE) is a widely used dietary supplement marketed to women to alleviate symptoms of gynecological ailments, yet its toxicity has not been well characterized. The National Toxico...
Black cohosh extract (BCE) is a widely used dietary supplement marketed to women to alleviate symptoms of gynecological ailments, yet its toxicity has not been well characterized. The National Toxicology Program (NTP) previously reported significant increases in micronucleated erythrocytes in peripheral blood of female Wistar Han rats and B6C3F1/N mice administered 15-1,000 mg BCE/kg/day by gavage for 90 days. These animals also developed a dose-dependent nonregenerative macrocytic anemia characterized by clinical changes consistent with megaloblastic anemia. Both micronuclei (MN) and megaloblastic anemia can arise from disruption of the folate metabolism pathway. The NTP used in vitro approaches to investigate whether the NTP's test lot of BCE, BCEs from various suppliers, and root powders from BC and other cohosh species, were genotoxic in general, and to gain insight into the mechanism of action of BCE genotoxicity. Samples were tested in human TK6 lymphoblastoid cells using the In Vitro MicroFlow® MN assay. The NTP BCE and a BC extract reference material (XRM) were tested in the MultiFlow® DNA Damage assay, which assesses biomarkers of DNA damage, cell division, and cytotoxicity. The NTP BCE and several additional BCEs were tested in bacterial mutagenicity assays. All samples induced MN when cells were grown in physiological levels of folic acid. The NTP BCE and BC XRM produced activity patterns consistent with an aneugenic mode of action. The NTP BCE and five additional BCEs were negative in bacterial mutagenicity tests. These findings show that black cohosh preparations induce chromosomal damage and may pose a safety concern. Environ. Mol. Mutagen., 2018. © 2018 Published 2018. This article is a US Government work and is in the public domain in the USA.
- [Mean Corpuscular Volume Can Be A Predictor for Therapeutic Response of Patients with Chronic Myeloid Leukemia]. [Journal Article]
- ZSZhongguo Shi Yan Xue Ye Xue Za Zhi 2018; 26(2):382-388
- CONCLUSIONS: The MCV as a parameter which is easily acquired may be a new marker for prodecting the therapeutic response of patients treated with TKIs.
- [Surgical treatment of an auto-immune hemolytic anemia]. [Journal Article]
- RMRev Med Interne 2018; 39(6):435-438
- CONCLUSIONS: Ovarian teratoma is a rare cause of secondary AIHA, with only few cases reported. Its treatment differs from primary AIHA as steroids may be ineffective. Indeed, complete response can only be achieved with surgical excision of the tumor.
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- Anemia among HIV Infected Individuals Taking ART with and without Zidovudine at Addis Ababa, Ethiopia. [Journal Article]
- EJEthiop J Health Sci 2018; 28(1):73-82
- CONCLUSIONS: The prevalence, severity and characteristics of anemia were different between ZDV and non-ZDV group participants at different follow-up periods of ART. Zidovudine had significant contribution to severe anemia incidence after six months of ART; thus, hemoglobin level monitoring with red cell indices is suggested for improved detection of zidovudine associated anemia.