Results 31 to 40 of about 5,120 (193)

First observation of hemoglobin ypsilanti in Saudi Arabia: A high oxygen affinity hemoglobin presenting with extreme erythrocytosis

Journal of Applied Hematology, 2023
High oxygen affinity hemoglobin (HOAH) variants are rare hemoglobinopathies sometimes associated with congenital erythrocytosis. Patients with HOAH are usually asymptomatic and are incidentally discovered when unexplained erythrocytosis is observed in ...
Husain Alkhaldy, Abdullah Algarni, Omayma Bakheet, Afaf Qahtani, Lama Alasiri, Mohammed Makkawi   +5 more
doaj   +1 more source

Genetic heterogeneity of primary familial and congenital polycythemia [PDF]

American Journal of Hematology, 2001
AbstractPrimary familial and congenital polycythemia (PFCP) is an inherited disorder of erythroid progenitor cells resulting in elevated erythrocyte mass. Several mutations of the erythropoietin receptor (EPOR) gene have been associated with PFCP, although in a few families the linkage between the EPOR gene and PFCP has been excluded.
R, Kralovics, J T, Prchal
openaire   +2 more sources

Brain injury in twin anemia-polycythemia sequence: prevalence, severity and long-term neurodevelopmental outcome. [PDF]

Ultrasound Obstet Gynecol
ABSTRACT Objectives The primary objective of this study was to evaluate the prevalence, type and severity of pre‐ and postnatal brain injury in monochorionic twins with twin anemia–polycythemia sequence (TAPS). Secondary objectives were to conduct within‐pair comparisons between donor and recipient twins of structural cranial ultrasound (cUS ...
Rondagh M, van der Spoel JW, Lopriore E, Spekman JA, de Vries LS, van Klink JMM, Tollenaar LSA, Slaghekke F, Steggerda SJ, Groene SG.   +9 more
europepmc   +2 more sources

Interstitial lung disease with congenital erythrocytosis

Journal of Clinical and Scientific Research, 2022
A 45-year-old male weaver, smoker, known case of interstitial lung disease with cor pulmonale on long-term oxygen therapy diagnosed 6 months ago who is on tapering doses of oral steroids presented to our tertiary care teaching hospital with complaints of
D T Katyarmal, M Haneesha, K M Bhargav, C Chandrasekhar, B Vijayalakshmi, N Mounika   +5 more
doaj   +1 more source

Genetic studies of familial myeloproliferative disorders [PDF]

, 2007
Hereditary thrombocythemia (HT) is an autosomal dominant disorder with clinical features resembling sporadic essential thrombocythemia. HT families share similar clinical symptoms caused by heterogeneous genetic alterations.
Liu, Kun
core   +1 more source

A Difficult Case in Clinical Practice: Combined Polycythaemia Vera and Protein S Deficiency in a Patient with both Thrombotic and Bleeding Complications [PDF]

Journal of Clinical and Diagnostic Research, 2018
Polycythemia Vera (PV) is a chronic myeloproliferative disorder which is characterised by a high risk of developing arterial as well as venous thromboembolic complications like deep vein thrombosis, stroke, cortical vein thrombosis and rarely acute ...
Sushanth Wattal, Ashwal Adamane Jayaram, Padmakumar Ramachandran, Abdul UK Razak, Suheil Dhanse   +4 more
doaj   +1 more source

Monochorionic twin pregnancies conceived through assisted reproduction: Maternal and perinatal clinical outcomes. [PDF]

Acta Obstet Gynecol Scand
ART‐conceived monochorionic twin pregnancies are associated with a higher burden of maternal complications compared with spontaneous conception. While fetal and neonatal outcomes did not differ significantly between groups after adjustment for relevant confounders, ART‐conceived pregnancies showed higher point estimates for several adverse outcomes ...
Casati D, Lanna MM, Laoreti A, Faiola S, Morelli R, Santapaola M, Lista G, Savasi V.   +7 more
europepmc   +2 more sources

Neonatal Problems and Infancy Growth of Term SGA Infants: Does “SGA” Definition Need to Be Re-evaluated?

Frontiers in Pediatrics, 2021
Introduction: The exact definition of small-for-gestational-age (SGA) infant is still controversial among clinicians. In this study, we aimed to understand which definition is better in terms of establishing both early postnatal problems and growth.
Saygin Abali, Serdar Beken, Eda Albayrak, Aysegul Inamlik, Burcu Bulum, Ezgi Bulbul, Gulten Zeynep Eksi, Zeynep Alize Ay, Melis Karabay, Didem Kaya, Muge Halici, Serap Semiz, Ayse Korkmaz   +12 more
doaj   +1 more source

Co-Occurrence of Agminated Lentigines, Café-Au-Lait Macules, and Vitiligo: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Lei X, Xie B.
europepmc   +2 more sources

Autosomal dominant inheritance with variable penetrance in primary familial and congenital polycythemia: A family tree [PDF]

, 2020
Primary familial and congenital polycythemia is a rare congenital disorder with only one case ever reported from Indian Subcontinent. Here, we are reporting an entire family inflicted with primary familial and congenital polycythemia, first ever of its ...
Srivastava S, Jaiswal P, Siddiqui M Z, Srivastava G, Gaba R, Shukla A, Jain P K   +6 more
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