BackgroundEpidermal growth factor receptor (EGFR) is a commonly altered gene that is identified in various cancers, including head and neck squamous cell carcinoma (HNSCC). Therefore, EGFR is a promising molecular marker targeted by monoclonal antibodies and small molecule inhibitors targeting the tyrosine kinase (TK) domain.ObjectiveThe objective of this study was to investigate the spectrum of mutations in exons 18, 19, 20, and 21 of the EGFR gene in HNSCC patients.Materials and methodsThis retrospective study included 47 confirmed HNSCC cases. Mutations in the TK domain, exons 18, 19, 20, and 21 of the EGFR gene, were detected by Scorpion® chemistry and ARMS® technologies on Rotor-Gene Q real-time polymerase chain reaction.ResultsThe tumors exhibited EGFR-TK domain mutations in 57% of cases. Four cases of T790M mutations were reported for the first time among HNSCC patients. Out of the total mutations, L861Q (exon 21), exon 20 insertions and deletions of exon 19 accounted for the majority of mutations (21%, 19%, and 17%, respectively). EGFR mutation status was correlated with the higher grade (P=0.026) and advanced stage (P=0.034) of HNSCC tumors.ConclusionHigher frequency of EGFR-TK domain mutations together with the presence of the T790M mutation suggests that identification of these mutations might streamline the therapy and provide a better prognosis in HNSCC cases.
BackgroundDiabetic foot care is vital as it is preventable complication but dangerous even a small trauma can end with serious consequences. Diabetes may cause nerve damage that affects feet sensation. Diabetes may also reduce blood flow to the feet, making it harder to heal an injury or resist infection. Because of these problems, patients may lose notice of early foot abnormalities. Diabetic patients' awareness regarding how to care for their feet plays a significant role in preventing these complications. MethodsA correlation cross-sectional study was conducted targeting all diabetic patients aging 20 years or more. Online questionnaire was used for data collection. Questionnaire was uploaded online using social media platforms by the researchers and their relatives and friends. The questionnaire included patient personal data, patients' knowledge regarding diabetic foot, attitude and practice regarding the risk of diabetic foot among diabetic patients. ResultsA total of 1,000 diabetic patients fulfilling the inclusion criteria completed the study questionnaire. Exact of 77.5% of the patients know that Diabetics can get gangrene in the foot, 74.9% know diabetics can develop ulcers in the foot, 66.7% reported that Diabetes can reduce blood flow to the feet of diabetic patients, 66.6% agreed that diabetic patients can suffer from a lack of sensation in the feet. Exact of 84.5% of the study participants agreed that Diabetics should check for any wounds on their feet daily, 78.7% agreed that Diabetics should visit a doctor when there is any infection or wound in the feet, 76.6% think that diabetic patients should wear specialized shoes to avoid diabetic foot according to the doctor's instructions. A total of 822 (82.2%) of the study patients wash their feet daily, and 295 (29.5%) usually wear cotton socks regularly and 39.6% sometimes wear the stock. Only 192 (19.2%) regularly walk barefoot and 41.7% sometimes do. ConclusionIn conclusion, the current study results showed that nearly two out of each three diabetic patients were knowledgeable for diabetic foot and its care. High knowledge was associated with young age, high education and having family member with diabetes mellitus (DM). Also, patients had a good attitude towards diabetic foot care and the effect of diabetes on foot health with to some level accepted practice except for some issues.
Breast cancer is one of the major causes of female morbidity and mortality, accounting for ~25% of the total cancer cases in women. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic α subunit ( PIK3CA ) mutations serve a major role in downstream signaling of receptor tyrosine kinases. The present study aimed to elucidate the frequency of exon 9 and 20 mutations of PIK3CA and their role in disease progression. A total of 118 tumor samples from confirmed breast cancer patients were collected from the histopathology laboratory at King Fahd Hospital of the University (Al-Khobar, Saudi Arabia). Sanger sequencing was performed on extracted DNA to identify the mutations on exons 9 and 20 of PIK3CA . The results were further validated by competitive allele-specific TaqMan polymerase chain reaction. Three mutations, namely E542K and E545K within exon 9, and H1047R within exon 20, were observed in 25 patients (21.2%). Among these, 18 patients carried the H1047R mutation of the kinase domain, while the remaining 7 patients carried mutations in the helical domain. PIK3CA mutations were associated with the estrogen receptor-positive/progesterone receptor-positive (ER + /PR + ) group of tumors in contrast to the ER − /PR − group (P=0.021). Furthermore, it was observed that the PIK3CA mutation was associated with a poor disease prognosis. Taken together, the current study emphasized the potential of PIK3CA mutations as an important biomarker for breast cancer classification and the possible use of PIK3CA inhibitor as targeted therapy for breast cancer.
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