Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +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
Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives
Pediatric Investigation, EarlyView.Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley +1 more source
Thalassemia ReportsHbF induction is an appropriate strategy to ameliorate the severity of β-thalassemia symptoms. Hydroxyurea (HU) is the most common chemical agent introduced as an HbF inducer but responsiveness to HU is variable and the introduction of HbF inducers ...
Hossein Jalali +5 more
doaj +1 more source
SNP in Tumor Necrosis Factor-Alpha (−308 A/G) Gene Association with HCV Infected Thalassemia Patients [PDF]
, 2023 Hiba A. Malallah +4 more
openalex +1 more source
The role of iron in normal and impaired testicular function
Andrology, EarlyView.Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer +2 more
wiley +1 more source
Pulmonary hypertension in adolescents with sickle cell disease [PDF]
, 2016 Sickle cell disease consists of a group of disorders that have a similar mutation in at least one of the beta-globin chains of hemoglobin. This results in a change of the hemoglobin to sickle shaped cells when in the deoxygenated state.
Akinyemi, Katherine
core +1 more source
Minihepcidins are rationally designed small peptides that mimic hepcidin activity in mice and may be useful for the treatment of iron overload [PDF]
, 2011 Iron overload is the hallmark of hereditary hemochromatosis and a complication of iron-loading anemias such as β-thalassemia. Treatment can be burdensome and have significant side effects, and new therapeutic options are needed.
Alan Waring +16 more
core +2 more sources
The Ticking Clock: Differential Time‐Dependent Deterioration Between Washed and Thawed Sperm
Andrology, EarlyView.ABSTRACT Background Cryopreservation is widely used in assisted reproductive technologies. While fresh sperm undergoes gradual time‐dependent deterioration, it remains unclear whether thawed sperm exhibits a more accelerated decline. Objectives To directly compare the rate of deterioration in sperm motility, vitality, and DNA fragmentation between ...
Adiel Kahana +6 more
wiley +1 more source