Question: A 3-month-old girl presented at our hospital with failure to thrive and abdominal distention. The pregnancy had been uneventful and had ended in a spontaneous vaginal delivery. The patient was apparently normal at birth and was born at term to healthy parents. Her older sister had died within 3 months of birth with the same manifestation.On examination, the child appeared severely malnourished and weighed 2.95 kg (<1st percentile), was 57 cm in length (<10th percentile). The patient's abdomen was soft, with mild distention and visible gut loops. Abdominal ultrasound examination revealed a dilated stomach and small bowel (Figure A), with highly reduced intestinal motility, but no obvious obstruction was noted. The relationship of the mesenteric blood vessels was normal (the vein was located to the right of the artery on the transverse section). The hugely dilated third section of the duodenal passed between the aorta and superior mesenteric vessels. The duodenum-jejunal junction was located lower than its normal position, which was expected to be at the level of the inferior margin of the duodenal bulb or pylorus. There was no evidence of volvulus or pyloric stenosis. Subsequent tracing of the intestine from the duodenum to the colon by moving the transducer along the course of the dilated loop showed a dramatically shortened small intestine. A relatively normal colon followed the dilated intestinal loops. The cecum and appendix were located in the left mid-abdomen (Figure B, electronic calipers). A gastrointestinal contrast study showed malrotation, a distended stomach and intestine, and a short length of dilated small bowel (Figure C, D).
What is the most likely diagnosis and what other tests may be done to clarify the diagnosis?See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI.
Chromatin-modifying enzymes are commonly altered in cancers, but the molecular mechanism by which they regulate cancers remains poorly understood. Herein, we demonstrated that Lysine acetyltransferase 7 (KAT7) was upregulated in breast cancer. KAT7 expression negatively correlated with the survival of breast cancer patients, and KAT7 silencing suppressed breast cancer radioresistance in vitro. Mechanistically, KAT7 activated Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) transcription, leading to enhanced PI3K/AKT signaling and radioresistance. Overexpression of AKT or PIK3CA restored radioresistance suppression induced by KAT7 inhibition. Moreover, overexpression of KAT7, but not KAT7 acetyltransferase activity-deficient mutants promoted AKT phosphorylation at the Ser473 site, PIK3CA expression and radioresistance suppression due to KAT7 inhibition. In conclusion, KAT7 has huge prospects for clinical application as a new target for predicting radioresistance in breast cancer patients.
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