Results 61 to 70 of about 9,026 (213)
Prenatal Diagnosis, EarlyView.ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear +6 more
wiley +1 more source
Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant +6 more
wiley +1 more source
The emerging role of non-coding RNAs in the pathogenesis of infantile hemangioma
Cancer Cell InternationalInfantile hemangioma (IH) is a common benign tumor that occurs in children, affecting both blood vessels and soft tissues. Its pathological features include abnormal proliferation of endothelial cells and an irregular vascular structure.
Najmaldin Saki +3 more
doaj +1 more source
Factors Related to Reduced Bone Density in β-Thalassemia Major Patients: Mazandaran Thalassemia Registry [PDF]
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2023 Introduction: OsteoPenia and osteoPorosis are known to be one of the main comPlications of β-thalassemia major (β-TM). The aim of this study was to determine the factors associated with decreased bone density of these Patients.
Hossein Karami +8 more
doaj
Increased prevalence of false positive hemoglobinopathy newborn screening in premature infants.
, 2011 The objective was to investigate the specificity of the hemoglobinopathy newborn screening in premature neonates as compared to term neonates. The screening results from infants suspected to have hemoglobinopathy disease identified by the Florida Newborn
Jay M. Fleisher +12 more
core +1 more source
Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality
Prenatal Diagnosis, EarlyView.ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou +7 more
wiley +1 more source
BMC Research Notes, 2020 Objective Chronic lymphocytic leukemia (CLL) is an adult leukemia presented with clonal accumulation of lymphocytes. Immunophenotypic changes can be effective in predicting clinical course, the survival of patients, and determining first-line treatment ...
Marziye Bagheri +3 more
doaj +1 more source
Pregnancy with a Severe Hemoglobinopathy: Unintended Consequences of Transfusions [PDF]
, 2013 We report a case of a pregnant woman with a complex hemoglobinopathy who developed a symptomatic anemia at 28 weeks of gestation and was treated with multiple transfusions of type-specific packed red blood cells. Shortly thereafter, she developed a fever
Hector Mendez-Figueroa +2 more
core +1 more source
Basophilic Stippling Unmasks Pyrimidine 5′‐Nucleotidase Deficiency in a G6PD‐Deficient Patient
American Journal of Hematology, EarlyView.
Victor Bobée +4 more
wiley +1 more source
ANZ Journal of Surgery, EarlyView.Splenectomy is a safe and effective treatment option in selected patients with haematological disease, despite declining referrals over the last 27 years in the era of targeted therapies. Outcomes are favourable when performed laparoscopically and long‐term follow‐up demonstrates sustained haematologic benefit in surviving patients.
Salil Dutt Barrett +9 more
wiley +1 more source