Hyperkinetic Movement Disorders
Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw in Hankey's Clinical Neurology, 2020
Blood: Acanthocytes: NAc, PKAN.Serum ceruloplasmin: WD.Thyroid function: Allan–Herndon–Dudley syndrome.Serum ferritin: NF.Alpha-fetoprotein, albumin, cholesterol, immunoglobulins: AT, AOA1, AOA2.Plasma amino acids: AA.White cell enzymes: GM1, GM2, MLD.
Neurogenetics
John W. Scadding, Nicholas A. Losseff in Clinical Neurology, 2011
Neuroacanthocytosis is an umbrella term for syndromes that consist of red blood cell abnormalities (acanthocytes) and neurological features. Of these, chorea-acanthocytosis is an autosomal recessive disorder that presents in early adulthood with dystonia, chorea, tics and psychiatric features. Parkinsonism may become a prominent feature later in life. Mutations have been identified in the CHAC gene encoding a protein called chorein. There is also an X-linked form associated with the presence of Kell antigen – clinically this is indistinguishable from the recessive form.
Hemolytic Anemia Associated with Red Cell Membrane Defects
Harold R. Schumacher, William A. Rock, Sanford A. Stass in Handbook of Hematologic Pathology, 2019
Acanthocytes are red cells with irregular, hornlike projections. They often coexist with echinocytes, red cells with small, numerous, uniform projections. Both acanthocytes and echinocytes are present in a variety of acquired clinical conditions and may or may not be associated with hemolysis. Several distinct clinical entities have inherited hemolytic anemia with acanthocytosis as the predominant defect.
Acute kidney injury due to thrombotic microangiopathy in a patient with primary Sjögren’s syndrome
Published in Renal Failure, 2022
Yi Wang, Xun Zhou, Xiaoyan Ma, Xinyu Yang, Yishu Wang, Min Tao, Binbin Cui, Tianyu Xiao, Shougang Zhuang, Na Liu
We described a case of monoclonal gammopathy–associated renal thrombotic microangiopathy (TMA) in a primary Sjögren’s syndrome (pSS) patient and who was successfully treated with a bortezomib-based regimen. A 66-years-old Chinese woman was admitted to our hospital with fatigue for a week and anuria for two days. Physical examination presented anemia and mild bilateral lower extremity edema. Old skin lesion could be seen in both lower limbs (Figure 1). The details of patient’s laboratory test results were listed in Table 1. Her hemoglobin (Hb) decreased from 79 g/L to 67 g/L and platelet (PLT) counts from 114 × 109/L to 83 × 109/L within five days accompanied by elevated lactate dehydrogenase (LDH) level of 1838 U/L. Her peripheral blood smear showed a small number of acanthocytes. Her blood urea nitrogen was 18.31 mmol/L, serum creatinine (Scr) was 653 μmol/L. Hypercoagulability workup revealed a high level of fibrinogen but negative anti-cardiolipin antibody immunoglobulin (Ig) G and IgM. Serum haptoglobin levels decreased from 146 to 7 mg/dL. Serum immunofixation electrophoresis detected monoclonal spikes of IgG and λ light chain. The free serum λ and κ light chain were both mildly elevated. The κ/λ-ratio was normal. Both complement C3 and C4 levels were depressed. Antinuclear antibodies, anti-neutrophil cytoplasmic antibodies, hepatitis virus, and anti-HIV-1/2 were all negative.
Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report
Published in Hemoglobin, 2019
Hua Jiang, Fan Jiang, Jian Li, Fang Tang, Dong-Zhi Li
At 1 year of age, the boy was referred to our center for investigation of the etiology of the anemia. On this referral, physical examination showed palpable spleen and liver below the costal margin and distinct jaundice without other notable findings. Liver function tests showed normal levels of aspartate transaminase (AST) and alanine aminotransferase (ALT) and enhanced serum bilirubin (20.9 μmol/L) and indirect bilirubin (15.6 μmol/L). Hepatitis markers were negative. Red cell morphology showed fragmented RBCs, anisopoikilocytosis and acanthocytes (Figure 2). Heinz bodies were negative. Hematological investigations revealed a normochromic normocytic anemia and a reticulocyte count of 15.0%. Hemoglobin analysis by capillary electrophoresis (CE) (CapillaryS; Sebia, Lisses, France) using fresh hemolysate, detected a considerably elevated Hb F level (Figure 3). Glucose-6-phosphate dehydrogenase (G6PD) screening and direct Coombs tests were negative. Chromosome analysis revealed a normal karyotype (46,XY). Chromosomal microarray analysis revealed no imbalanced arrangements. Other family members were also investigated. The mother had a classical α-thalassemia (α-thal) trait with a genotype of – –SEA/αα (Southeast Asian deletion) confirmed by molecular testing. The father and the older brother had normal hematological parameters. Both parents showed a small amount of Hb F, and the father’s level was slightly higher than the mother’s (Figure 3).
Short-term oral administration of non-porous and mesoporous silica did not induce local or systemic toxicity in mice
Published in Nanotoxicology, 2020
Joan Cabellos, Irene Gimeno-Benito, Julia Catalán, Hanna K. Lindberg, Gerard Vales, Elisabet Fernandez-Rosas, Radu Ghemis, Keld A. Jensen, Rambabu Atluri, Socorro Vázquez-Campos, Gemma Janer
Hematological analyses were performed using 150 µL heparinized blood in a hematology analyzer (Abacus JuniorVet, Diatron®, Budapest, Hungary). Additionally, differential leukocyte counting using Wright-Giemsa modified staining was performed by visual evaluation using optical microscopy (Leica DM100®, Wetzlar, Germany). Incidence of morphological variations in leukocytes and incidence of acanthocytes and anisochromia were also recorded.
Related Knowledge Centers
- Abetalipoproteinemia
- Blood Smear
- Echinocyte
- Schistocyte
- Liver
- Cell Membrane
- Red Blood Cell
- Crenation
- Chorea-Acanthocytosis
- McLeod Syndrome