Results 41 to 50 of about 5,120 (193)

Unmasking Congenital Methemoglobinemia: A Novel CYB5R Mutation Discovered in an Adult with Symptomatic Polycythemia

Turkish Journal of Hematology
Amiya Ranjan Nayak, Pratyusha Gudapati, Swapnil Tripathi, Jasmita Dass, Pradeep Kumar, Mukul Aggarwal   +5 more
doaj   +3 more sources

Novel potential therapeutics to modify iron metabolism and red cell synthesis in diseases associated with defective erythropoiesis

Haematologica, 2023
Under normal conditions, iron metabolism is carefully regulated to sustain normal cellular functions and the production of hemoglobin in erythroid cells.
Amaliris Guerra, Hamideh Parhiz, Stefano Rivella   +2 more
doaj   +1 more source

Surgical lobectomy of pulmonary arteriovenous malformations in a patient with presentations regarded as sequela of tuberculosis: a case report

Journal of Cardiothoracic Surgery, 2020
Background Pulmonary arteriovenous malformations are uncommon conditions of abnormal communications between pulmonary arteries and veins, which are most commonly congenital in nature.
Peng Teng, Weidong Li, Yiming Ni
doaj   +1 more source

Gallbladder stone with congenital heart disease and situs inversus totails: a case report [PDF]

Waike lilun yu shijian, 2022
The incidence of situs inversus totalis is low. Localization of symptoms and signs will change for the patient with this anomaly when complicating abdominal disease.
ZHANG Junzhe, CHEN Wei
doaj   +1 more source

Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Respiratory Medicine Case Reports, 2020
Pulmonary arteriovenous malformations (PAVM) are generally congenital lesions caused by abnormal capillary development. Lesions can be in the form of isolated anomaly or as part of autosomal dominantly inherited hereditary hemorrhagic telengiectasia (HHT)
Saniye Girit, Ebru Senol, Özge Karatas, Ayşe İnci Yıldırım   +3 more
doaj   +1 more source

New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis

Haematologica, 2018
Primary familial and congenital polycythemia is characterized by erythropoietin hypersensitivity of erythroid progenitors due to germline nonsense or frameshift mutations in the erythropoietin receptor gene.
Florence Pasquier, Caroline Marty, Thomas Balligand, Frédérique Verdier, Sarah Grosjean, Vitalina Gryshkova, Hana Raslova, Stefan N. Constantinescu, Nicole Casadevall, William Vainchenker, Christine Bellanné-Chantelot, Isabelle Plo   +11 more
doaj   +1 more source

Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review

, 2022
Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor (EPOR) gene. To date, 33 genetic variants have been reported to be associated.
Duran, María Antonia, Bernardo López, Fernández-Ibarrondo, Lierni, López, Bernardo, Lo Riso, Laura, Gardenia Vargas-Parra, Leonor Arenillas, Florensa, Lourdes, Bellosillo Paricio, Beatriz, Albert Perez-Montaña, Robredo, Beatriz, Sampol, Antonia, Beatriz Robredo, Navarro, Gemma, Besses Raebel, Carles, Lierni Fernández-Ibarrondo, Gemma Navarro, Carles Besses, María Antonia Duran, Lourdes Florensa, Ballester, Carmen, Florensa Brichs, Lourdes, Bellosillo, Beatriz, Laura Lo Riso, Arenillas, Leonor, Beatriz Bellosillo, Vargas-Parra, Gardenia, Perez-Montaña, Albert, Besses, Carles, Carmen Ballester, Antonia Sampol, Arenillas Rocha, Leonor   +31 more
core   +1 more source

Hemiretinal Artery Occlusion in an 11-Year-Old Child with Dextrocardia

Case Reports in Ophthalmological Medicine, 2016
Purpose. To report a case of hemiretinal artery occlusion in a child with dextrocardia, visceral heterotaxia, and secondary polycythemia. Methods. Complete clinical examination, fundus photography, and retinal fluorescein angiography were performed ...
Diana E. Arévalo Simental, Enrique A. Roig Melo-Granados, Saúl Cortés Quezada, Manuel A. Páez Escamilla, Carmen L. Soria Orozco, Jorge E. Jacinto Buenrostro   +5 more
doaj   +1 more source

Anesthetic implications of total anomalous systemic venous connection to left atrium with left isomerism

Annals of Cardiac Anaesthesia, 2012
Total anomalous systemic venous connection (TASVC) to the left atrium (LA) is a rare congenital anomaly. An 11-year-old girl presented with complaints of palpitations and cyanosis.
Parimala Prasanna Simha, Muralidhara Danappa Patel, A M Jagadeesh   +2 more
doaj   +1 more source

Spontaneous pulmonary artery thrombus in a neonate

The Egyptian Heart Journal, 2021
Background Pulmonary artery thrombosis is rare in neonates and mimics as persistent pulmonary hypertension or congenital heart disease. Risk factors include septicemia, dehydration, polycythemia, maternal diabetes, asphyxia, and inherited thrombophilias.
Y. S. Shrimanth, Krishna Prasad, Adari Appala Karthik, Parag Barwad, C. R. Pruthvi, Atit A. Gawalkar, Krishna Santosh, Sanjeev Naganur   +7 more
doaj   +1 more source