Association of Genetic Variant FVIII Gene and Factor VIII: A Pilot Study Among Hemophilia A Female Relatives in Saudi Arabia.

Unlabelled: Hemophilia A (HA) is an X-linked recessive disorder that results from mutations in the factor VIII gene (FVIII). Most affected patients are males due to the inheritance of mutations in the FVIII gene from their mothers. Females are mostly found to be carriers unless they inherited the mutation from both parents.

Web-based expert system with quick response code for beta-thalassemia management.

β-thalassemia is an inherited blood disorder in which the body cannot produce hemoglobin normally. Since patients with this condition receive blood transfusions regularly, iron builds up primarily in organs such as the heart, liver and endocrine glands. Accumulation of iron in the organs necessitates chelation therapy.

Underutilization of pharmacological thromboprophylaxis in obstetrics and gynaecology patients in the absence of a risk assessment tool.

Objective: This study was conducted to determine the risk factors for developing venous thromboembolism and to evaluate adherence to thromboprophylaxis guidelines among patients hospitalized in Obstetrics and Gynaecology units.

Methods: A retrospective cohort study was conducted from December 2015 to March 2016 in the haematology department of a teaching hospital. A total of 188 hospitalized female patients with a hospital length of stay greater than 1 day were included.

Differential effects of anti-cancer and anti-hepatitis drugs on liver cystatin.

The drug-protein interaction has been the subject of increasing interest over the decades. In the present communication, the interaction of liver cystatin with anti-cancer (adriamycin) and anti-hepatitis (adevofir dipivoxil) drugs was studied by thiol-protease inhibitory assay, UV absorption, fluorescence spectroscopy and circular dichroism (CD). A static type of quenching was observed between the protein and the drug molecules.

Computational insights into the inhibitory mechanism of human AKT1 by an orally active inhibitor, MK-2206.

The AKT signaling pathway has been identified as an important target for cancer therapy. Among small-molecule inhibitors of AKT that have shown tremendous potential in inhibiting cancer, MK-2206 is a highly potent, selective and orally active allosteric inhibitor. Promising preclinical anticancer results have led to entry of MK-2206 into Phase I/II clinical trials.

Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.

We describe in this report a case of a 6-years-old female who presented at the age of 1 month with a mucocutaneous bleeding and suspected thrombocytopenia. The patient's condition was refractory to the known idiopathic thrombocytopenic purpura treatments and congenital form of Thrombocytopenia was suspected following the delivery of a male sibling with the same phenotype. The patient also manifested fair colored hair and skin relative to her family however she did not have any detectable neurologic or other immunologic abnormalities.

Molecular basis of β-thalassemia in the western province of Saudi Arabia: identification of rare β-thalassemia mutations.

This study aimed at the identification of the spectrum of mutations in patients with β-thalassemia (β-thal) in the western province of Saudi Arabia. Screening for the mutations was done using the polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) technique to test for 12 mutations, and direct automated DNA sequencing for the unknown samples. The study included 172 patients; of these 15 patients had sickle cell anemia and one Hb S [β6(A3)Glu→Val, GAG>GTG]/β-thal.