Results 71 to 80 of about 174,911 (210)

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Valproate-Induced Thrombocytopenia

Pediatric Neurology Briefs, 1994
A 14-year-old mentally retarded boy with seizures who presented with severe thrombocytopenia, macrocytic anemia and allergic dermatitis after treatment with valproate for 12 years is reported from the University of Louvain Medical School, Brussels ...
J Gordon Millichap
doaj   +1 more source

Optimizing diagnostic thresholds of total vitamin B12 (B12) for identifying cobalamin deficiency in adults with macrocytic anemia

Objectives: Identifying individuals with vitamin B12 (B12) deficiency is challenging due to poor harmonization across total B12 assays. To establish clinically meaningful thresh olds for the Roche assay, we characterized B12 concentra tions ...
Zuccotti, Gianvicenzo, Cesana, Bruno Mario, Montagnana, Martina, Campigotto E., Zuccotti G., Tosi, Martina, Plebani, Mario, Ferraro, Simona, Tosi M., Cesana B. M., Musso, Giulia, Lalli L., Lalli, Luca, Pelloso M., Plebani M., Campigotto, Edoardo, Musso G., Montagnana M., Ferraro S., Pelloso, Michela   +19 more
core   +1 more source

[Pancytopenia and hemolysis--diagnosis, differential diagnosis and therapy of pernicious anemia]

, 2007
Pernicious anemia and Vitamin B12 deficiency have a wide range of symptoms and are a common finding in the elderly. A 73 year old female is admitted to the hospital because of dyspnea, fatigue and loss of appetite and weight.
Lipp, E, N Meier, M Solenthaler, Meier, N, E Lipp, Solenthaler, M, Meier, Niklaus, Solenthaler, Max   +7 more
core   +1 more source

Neuropathy caused by B12 deficiency in a patient with ileal tuberculosis: A case report

Journal of Medical Case Reports, 2008
Introduction Vitamin B12 deficiency can result in macrocytic anemia. Neurologic abnormalities of B12 deficiency include sensory deficits, loss of deep tendon reflexes, movement disorders, neuropsychiatric changes and seizures.
Toosi Taraneh, Shahi Farhad, Afshari Ali, Roushan Nader, Kermanshahi Marjan   +4 more
doaj   +1 more source

A novel deletion in the RPL5 gene in a Lebanese child with diamond blackfan anemia unresponsive to steroid treatment [PDF]

, 2019
Diamond-Blackfan Anemia (DBA) is a rare inherited form of pure red cell aplasia that usually manifests in infancy or early childhood, and is characterized by normochromic macrocytic anemia and bone marrow erythroblastopenia. The majority of DBA cases are
Irene Roberts, Roy, Noemi B. A., Katherine Wray, Proven, Melanie, Roula A. Farah, Melanie Proven, Marcin W. Wlodarski, Wlodarski, Marcin W., Kamel, Lojine, Farah, Roula A., Roberts, Irene, Noemi Roy, Lojine Kamel, Wray, Katherine   +13 more
core   +1 more source

Recognizing missed opportunities to diagnose and treat iron deficiency anemia: A study based on prevalence of anemia among children in a teaching hospital

Journal of Family Medicine and Primary Care, 2019
Background: In developing world, anemia is a significant cause of mortality and morbidity in children under 5 years of age. Iron deficiency anemia (IDA) is a very important causative factor for childhood anemia.
Dipshikha Maiti, Suchi Acharya, Surupa Basu   +2 more
doaj   +1 more source

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations [PDF]

, 2018
The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it ...
Tomas Ganz, Jessica A. Meznarich, Hassan M. Yaish, Meznarich, Jessica A, Luem, Nick D, Nick D. Luem, Christensen, Robert D, Theodore J. Pysher, Pysher, Theodore J, Elizabeta Nemeth, Robert D. Christensen, Ganz, Tomas, Draper, Lauren, Ward, Diane M, Nemeth, Elizabeta, Jung, Grace, Lauren Draper, Grace Jung, Diane M. Ward, Yaish, Hassan M   +19 more
core   +1 more source

Peripheral Blood and Bone Marrow Changes in Chronic Renal Failure (Investigation of 50 Cases) [PDF]

Acta Medica Iranica, 1973
Anemia and morphological features of the hemopoietic system in 50 Iranian patients suffering from chronic uremia was investigated. The results were compared with the results observed by others; our findings in most instances are nearly in accordance but ...
Seyed Nasroiah Sayar, Mohsen Naficy   +1 more
doaj   +1 more source

Rud′s syndrome

Indian Dermatology Online Journal, 2014
Rud′s syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia.
K Pavani, B. S. N. Reddy, B Amar Singh
doaj   +1 more source