BRAF non-V600 mutations are a distinct molecular subset of colorectal cancer (CRC) that has little to no clinical similarity the V600 mutations. It is generally considered correlate with better survival CRC patients. In this report, we present an unusual case midlife female patient who was initially diagnosed stage IIIC colon cancer, and multiple metastases were found 25 months after radical su...

Analysis of large scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here we report the unexpected recovery a rare dominant lethal mutation TPM1, sarcomeric actin-binding protein, 8 individuals with atrial septal defect (ASD) 5-generation pedigree. Mice TPM1 exhibited early embryonic lethality disrupted myofibril assembly and no hear...

Protein S is a glycoprotein essential in the regulation of blood coagulation. Familial protein deficiency increases risk venous thromboembolism approximately 2- to 11-fold. Herein, we report this disorder six members Vietnamese family among which three had thromboembolism, and other were asymptomatic. The levels ranged from 10.1% 24%, but did not identify any PROS1 mutation. In one patient, rar...

Androgen insensitivity syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder. However, the overlap in clinical manifestations between AIS and other disorders of sex development can cause diagnostic difficulties. Applying whole coding region sequencing method an optimal for diagnosis AIS. In this study, whole-exome was performed to screen mutations AR gene as well genes rel...

Abstract Introduction Hereditary transthyretin (TTR) amyloidosis is a rare disease that can affect various organs. The early identification of cardiac involvement through echocardiography allows to corroborate the diagnosis and start therapy at an stage. Purpose aim our study was detect signs in patients with TTR gene mutation neurological phenotype or absence any organ (carriers) compared (CA)...

Chronic airway colonization by bacteria and fungi is very common in CF patients, causing irreversible lung damage. It known that rates of fungal infections are much lower than those bacterial infections, however they can worsen the medical condition patients. In this study, we identify most species isolated from 31 adult patients Qatar analyze their correlation with function, pulmonary exacerba...