The neurodegenerative disorder ataxia with oculomotor apraxia 2 (AOA-2) is caused by defects in senataxin, a putative RNA/ DNA helicase thought to be involved in the termination of transcription at RNA polymerase pause sites. RNA/DNA hybrids (R loops) that arise during transcription pausing lead to genome instability unless they are resolved efficiently. We found that senataxin forms distinct nuclear foci in S/G 2 -phase human cells and that the number of these foci increases in response to impaired DNA replication or DNA damage. Senataxin colocalizes with 53BP1, a key DNA damage response protein, and with other factors involved in DNA repair. Inhibition of transcription using ␣-amanitin, or the dissolution of R loops by transient expression of RNase H1, leads to the loss of senataxin foci. These results indicate that senataxin localizes to sites of collision between components of the replisome and the transcription apparatus and that it is targeted to R loops, where it plays an important role at the interface of transcription and the DNA damage response.

Lactose and fructose intolerance in children can lead to chronic abdominal pain and symptoms improve with dietary modifications.

These results show that serum adhesion molecule levels are higher in patients with CD. Some of the risks associated with endothelial dysfunction may be related to CD and these risks can be reduced with an appropriate and fully controlled diet.

Delay in CD diagnosis negatively affected both the height and weight and other growth parameters. GFD compliance positively affected the patients' all growth parameters, especially weight and BMI z-score.

Aim: Metallic foreign body (MFB) ingestion is a common problem in the pediatric population. Morbidity and mortality rates are low in foreign body ingestion during childhood, but it may lead to anxiety in parents. Materials and Methods:We aimed to analyze the clinical presentation, etiology, and management of MFB ingestion. The records of children admitted with a history of MFB ingestion were retrospectively reviewed. Data regarding gender, age, type of foreign body, management, and outcome (outcomes) were recorded.Results: Of the 151 children included, 67 (44.4%) were male and 84 (55.6%) female. The mean age was 49.3±39.2 months. Coins, in 108 patients (71.5%), were the most commonly ingested foreign bodies, followed by batteries in 19 patients (12.6%), and other metallic objects. The foreign bodies were located in the esophagus in 70 (46.4%) patients, the stomach in 29 (19.2%), and the small intestine in 52 (34.4%). Endoscopic interventions were performed in 69 patients (45.6%). One patient who swallowed a battery was operated because of acute abdomen.Conclusion: MFB ingestion may appear as an emergency condition of a preventable cause in domestic accidents. It must not be forgotten that in addition to protective measures, early intervention in the emergency department is a significant factor in reducing mortality associated with this condition. (JAEM 2015; 14: 79-82)