Results 71 to 80 of about 22,512 (233)

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

CARDIAC MAGNETIC RESONANCE IN TRANSFUSION DEPENDENT THALASSAEMIA: ASSESSMENT OF IRON LOAD AND RELATION TO LEFT VENTRICULAR EJECTION FRACTION

, 2010
International audienceCardiac Magnetic Resonance (CMR) has replaced all other surrogate measurements in the determination of transfusional cardiac iron overload in patients with thalassaemia major.
Kattamis, Antonis, Gotsis, Efstathios, Chouliaras, Giorgos L, Mavrogeni, Sophie, Ladis, Vassilios, Berdoukas, Vasilios Antonios   +5 more
core   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

Health professionals and ethnic Pakistanis in Britain : risk, thalassaemia and audit culture [PDF]

, 2011
The central theme or `red-thread' that I consider in this thesis is the concept of risk as it is perceived by and affects the two sides of the medical encounter - in this instance ethnic Pakistanis and Health Professionals - in Britain ...
Murphy, Richard
core   +2 more sources

Experiences and insights of thalassaemia carriers from an indigenous community in Sabah, Malaysia

Despite the government’s concerted efforts in implementing the National Thalassaemia Prevention and Control Program since 2004, public awareness and attitudes towards participation in screening remain unsatisfactory.
Hussein, Norita, Mohamed Reza, Syahirah Mohamed, Azmi, Anisah, John, Primus, Ng, Chirk Jenn, Qureshi, Nadeem, Lee, Yew Kong   +6 more
core   +1 more source

Association Between Blood Transfusion for Postpartum Haemorrhage and the Risk of Premature Ovarian Failure: A Nationwide Population‐Based Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To investigate the association between postpartum haemorrhage (PPH) severity and the subsequent risk of premature ovarian failure (POF), with blood transfusion used as a marker of severe PPH: Design Nationwide population‐based retrospective cohort study. Setting Korean National Health Insurance Service (KNHIS) database.
Min‐A Kim, Ju Hyeong Son, Hyun‐Joo Seol, Min‐Jeong Oh, Geum Joon Cho, Young‐Han Kim   +5 more
wiley   +1 more source

Low density parasitaemia, red blood cell polymorphisms and Plasmodium falciparum specific immune responses in a low endemic area in northern Tanzania. [PDF]

, 2009
BACKGROUND: Low density Plasmodium falciparum infections, below the microscopic detection limit, may play an important role in maintaining malaria transmission in low endemic areas as well as contribute to the maintenance of acquired immunity.
Alifrangis, M., Anders Enevold, Bousema, Teun, Shekalaghe Seif, Kavishe, R.A., Shekalaghe, Seif, Mwakalinga Steve, Sauerwein Robert, Manjurano Alphaxard, Sauerwein, R.W., Seif Shekalaghe, Shekalaghe, S., Manjurano, Alphaxard, Mwanziva Charles, Steve Mwakalinga, Mkali, Humphrey, Enevold Anders, Drakeley, Chris, Mkali Humphrey, Chris Drakeley, Teun Bousema, Robert Sauerwein, Enevold, A., Mwakalinga, Steve, Bousema, T., Reginald Kavishe, Mwakalinga, S., Manjurano, A., Alifrangis Michael, Drakeley Chris, Mkali, H., Mwakalinga, Steven Boniface, Mwanziva, C., Mwanziva, Charles, Bousema Teun, Kavishe Reginald, Alphaxard Manjurano, Drakeley, C., Enevold, Anders, Humphrey Mkali, Michael Alifrangis, Charles Mwanziva, Alifrangis, Michael, Sauerwein, Robert, Kavishe, Reginald   +44 more
core   +3 more sources

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, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

Haematologists as Genetic Counsellors for Haemoglobinopathies: Are They Prepared?

Hematology Reports
Background/Objectives: In haematology, a wide range of blood disorders are hereditary. The thalassaemias are hereditary anaemias characterised by a high burden of disease at the public health level, challenging the resources of many health systems.
Michael Angastiniotis, Androulla Eleftheriou   +1 more
doaj   +1 more source

Long‐Term Outcomes After Elective Splenectomy for Haematological Disease: A 27‐Year Single‐Centre Study

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, Anthony Downhill, Douglas Greer, William Stevenson, Ian Kerridge, Chris Ward, Matthew Greenwood, Naomi Mackinlay, Luke Coyle, Thomas J. Hugh   +9 more
wiley   +1 more source