Results 41 to 50 of about 5,241 (198)

Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma [PDF]

Journal of Clinical and Diagnostic Research, 2017
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis.
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai   +4 more
doaj   +1 more source

Splenic Tropism and Spleen‐Modulated Systemic Inflammation in Acute Plasmodium vivax Malaria

American Journal of Hematology, EarlyView.
ABSTRACT In chronic Plasmodium vivax (Pv) infection, the spleen accounts for over 98% of total‐body parasite biomass. Whether splenic tropism also occurs in acute infection and how the spleen influences pathogenesis have not been systematically explored. In Papua, Indonesia, we compared clinical and hematology data in 24 spleen‐intact and 25 previously
Steven Kho, Hasrini Rini, Noy N. Kambuaya, Syawal Satria, Freis Candrawati, Putu A. I. Shanti, King Alexander, Benediktus Andries, Aisah R. Amelia, Anjana Rai, Kim A. Piera, Agatha M. Puspitasari, Ristya Amalia, Pak Prayoga, Leo Leonardo, Maulina Hafidzah, Theo Situmorang, Dewi S. Margayani, Desandra A. Rahmayenti, Pengxing Cao, Enny Kenangalem, Leily Trianty, Damian Oyong, Julie A. Simpson, Rintis Noviyanti, Pierre A. Buffet, Jeanne R. Poespoprodjo, Nicholas M. Anstey   +27 more
wiley   +1 more source

Determination of Haemoglobin Variants by High Performance Liquid Chromatography in Patients with Moderate to Severe Anaemia: A Cross-sectional Study in Tertiary Care Hospital, South Bangalore, India [PDF]

National Journal of Laboratory Medicine
Introduction: Haemoglobinopathies are among the most common hereditary disorders in India and represent a major public health problem. Their management requires lifelong treatment such as transfusions, chelation therapy, and repeated investigations ...
Karinepuleti Mallikarjuna Priyanka, Hanumanthappa Krishnappa Manjunath, Bhargavi Mohan, Akshatha Basavaraj, K vinithra, Murlidharan Bindu Athira, Suma Hosaholu, Mythri Boovalli Maheshio   +7 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

The population genetics of the haemoglobinopathies.

, 1998
The haemoglobinopathies are the commonest single-gene disorders known, almost certainly because of the protection they provide against malaria, as attested by a number of observations.
Boyce, AJ, Flint, Jonathan, Clegg, JB, Harding, RM, Flint, J   +4 more
core   +1 more source

Evaluating the (comparative) safety profile of the novel oral polio vaccine type 2 using individual case safety reports in VigiBase

British Journal of Clinical Pharmacology, EarlyView.
Aim Novel oral polio vaccine type 2 (nOPV2) was used under the WHO emergency use listing for circulating vaccine‐derived polio virus (cVDPV) outbreaks from 2021 to 2023. We assessed nOPV2 adverse events following immunization (AEFIs) and compared its safety profile to other vaccines using VigiBase.
Comfort Kunak Ogar, Malede Mequanent Sisay, Leonardo Roque‐Pereira, Christine Leopold, Patrick C. Souverein, Aukje K. Mantel‐Teeuwisse, Marie L. De Bruin   +6 more
wiley   +1 more source

Cell and Gene Therapies Manufacturing Challenges and Integrated Good Manufacturing Practices Solutions: A Lifecycle Perspective

Biotechnology and Bioengineering, EarlyView.
Lifecycle perspective on cell and gene therapy manufacturing challenges and enabling GMP solutions. ABSTRACT Cell and gene therapies (CGTs) are revolutionizing modern medicine; however, making these advanced medicines scalable and readily available to commercial manufacturers worldwide is a major challenge. The number of approved CGT products continues
Rajath Samaga, Udisha Singh, Sachin Dattram Pawar   +2 more
wiley   +1 more source

The population genetics of the haemoglobinopathies.

, 1993
The haemoglobinopathies are the commonest single gene disorders known, and are so common in some regions of the world that the majority of the population carries at least one genetic abnormality affecting the structure or synthesis of the haemoglobin ...
Boyce, AJ, Flint, Jonathan, Clegg, JB, Harding, RM, Flint, J   +4 more
core   +1 more source

Multidisciplinary care in haemoglobinopathies

Thalassemia Reports, 2014
While most complications are related to haemoglobinopathies and their treatment, it is also possible to observe substantial differences in comorbidities’ onset and seriousness which depend also to the different HPs genotypes.
Adriana Ceci, Laura Mangiarini, Fedele Bonifazi, Rossella Conte, on behalf of the HTA-THAL Multiregional Registry   +4 more
doaj   +1 more source