Mutation spectrum of β-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia.
Mutation spectrum of β-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia. Cell Mol Biol (Noisy-le-grand). 2017 Dec 30;63(12):22-24 Authors: Maskoen AM, Rahayu NS, Reniarti L, Susanah S, Laksono B, Fauziah PN, Zada A, Hidayat DS Abstract Thalassemia is the most common hereditary haemolytic anemia in Southeast Asia, in which Indonesia is among countries that are at a high risk for thalassemia. It has been reported that mutation in the beta-globin gene is responsible in severe Thalassemia. However, the spectrum of beta-globin gene mutations in Indonesian population varies in different regions . Thus, this study aimed to identify the most prevalent mutation of Thalassemia patients from the Hasan Sadikin Hospital, Bandung, using this as a reference hospital for Thalassemia in West Java. The three most prevalent mutations of beta globin (IVS1nt5, Cd26 (HbE), and IVS1nt1), were conducted in the beginning of this study. Mutations of 291 samples were detected by PCR-RFLP in the Molecular Genetic Laboratory, Faculty of Medicine Universitas Padjadjaran, Bandung. The prevalence of the beta globin gene mutation types were 47.4% IVS1nt5 homozygote, 9.9% compound heterozygote IVS1nt5/HbE, 5.4% compound heterozygote IVS1nt5/IVS1nt1, 1.4% compound heterozygote HbE/IVS1nt1, 1% HbE homozygote, 14.4% Compound heterzygote IVS1nt5/… (no paired mutation), 2.06% compound heterozygote HbE/… (no paired mutation), 1.3% compound h...
Post-zygotic mutations in GNAQ/GNA11 genes account for mosaic conditions with vascular or pigmentary anomalies. We sought to delineate the phenotype of 32 patients with an activating post-zygotic mutation in GNA11/GNAQ. All patients were studied because of skin vascular anomalies suggestive of involvement of G-proteins. GNAQ and GNA11 mutations were identified on ultradeep NGS on affected skin. A postzygotic PIK3CA mutation was ruled out in 9 patients. Capillary malformations (CM) were subclassified as suggested by Happle: nevus flammeus, nevus roseus, cutis marmorata and anemic nevus.
During embryonic development, lymphatic vessels grow from specialized endothelial cells present in preexisting blood vessels. Molecular signals that regulate the separation or differentiation of blood to lymph vessels as well as the proliferation of lymphatics throughout the embryonic body are not well defined. Here, we present a mouse model that displays with severe edema, anemia and vascular hemorrhaging during mid-gestation (14.5-16.5 days post-coitum) at elevated penetrance ( ∼90%) resulting in embryonic lethality.
We present a sixth case of SANT in a four-year-old boy who presented with chronic anemia and elevated inflammatory markers. The relative variability in case presentation and the clinical concern for malignancy, warrant further disease characterization and discussion of management.
Journal of Clinical Laboratory Analysis, EarlyView.
ConclusionSuch atypical mucocutaneous manifestations of amyloidosis can serve as important early diagnostic signs with less invasive biopsy confirmation in patients with systemic amyloidosis.
Publication date: Available online 20 August 2018Source: Annals of Medicine and SurgeryAuthor(s): Derrick Acheampong, Shanice Guerrier, Valentina Lavarias, David Pechman, Christopher Mills, William Inabnet, I. Michael LeitmanAbstractBackgroundUnplanned postoperative reintubation (UPR) is a marker for severe adverse outcomes following general and vascular surgery.Study designA retrospective analysis of 8809 adult patients, aged 18 years and older, who underwent major general and vascular surgery at a large single-center urban hospital was conducted from January 2013 to September 2016. Patients were grouped into those who ex...
Conditions: Anemia; Stunting; Underweight Intervention: Other: Nutritious Lunch Sponsors: Institut Pertanian Bogor; Ajinomoto Co., Inc. Active, not recruiting
VITAMIN B12 deficiency can lead to anaemia, where the body has fewer red blood cells than normal. Anaemia, no matter what it ’s caused by, can lead to heart and lung complications, so what are the signs to recognise if you have a deficiency?
Storing your child’s cord blood is an incredible way to invest in their future health and well-being. What you might not know: The same cord blood can be used to cure devastating diseases in your other children, or even in you. Click here to read the story of Hamad, a young Emirati boy who was cured of sickle cell anemia. He wasn’t cured with his own cord blood; he was cured with cord blood stem cells from his younger brother. Cord blood isn’t just an investment in your child; it’s an investment in your family. Call us to learn more about cord blood and cord blood tissue banking. The post Cord...
ConclusionsPatients with latent left ventricular outflow tract obstruction can progress to cardiogenic shock and pulseless electrical activity due to increased cardiac contraction and depletion of preload and afterload. We should consider the patient ’s underlying conditions that induced pulseless electrical activity.