Oesophageal Obstruction in Ponies - Case report

SUMMARY The purpose of the authors was to give a short description of oesophageal obstruction, including its pathogenesis, clinical diagnosis and treatment alternatives – with a case presentation of a two-year-old pony female. A two-yearold Welsh B type pony filly developed oesophageal obstruction in the autumn of 2014. She was only a few months old when the first clinical signs of intermittent dysphagia occurred. After weaning her symptoms disappear for a while but since the age of one and a half year they have recurred more often and more seriously, finally resulting in clinical admission. The obstruction was successfully relieved by antispasmodics and lavage of impaction via a nasogastric tube but the control endoscopy showed a circular lesion of the oesophageal mucosa and the ultrasound examination of the chest revealed mild aspiration pneumonia. The pony received amoxicillin and clavulanic acid, phenylbutazon and gastric protective coating, in addition to glucose and insulin to combat negative energy balance and lipid mobilization. The filly was discharged from the hospital following a 4 day intensive therapy and treated at the farm thereafter. The pony was fed with mash and chopped hay in small portions, but frequent intervals. The uniqueness of this case is the recovery despite poor prognosis (chronic recurrent obstructions, circular mucosal lesion, aspiration pneumonia) and the fact that the oesophageal obstruction did not recur. The body condition of the pony is considered normal, her training as a carriage driving horse has been started

Low‐burden TP53 mutations represent frequent genetic events in CLL with an increased risk for treatment initiation

Abstract TP53 aberrations predict chemoresistance and represent a contraindication for the use of standard chemoimmunotherapy in chronic lymphocytic leukaemia (CLL). Recent next‐generation sequencing (NGS)‐based studies have identified frequent low‐burden TP53 mutations with variant allele frequencies below 10%, but the clinical impact of these low‐burden TP53 mutations is still a matter of debate. In this study, we aimed to scrutinise the subclonal architecture and clinical impact of TP53 mutations using a sensitive, NGS‐based mutation analysis in a ‘real‐world’ cohort of 901 patients with CLL. In total, 225 TP53 mutations were identified in 17.5% (158/901) of the patients; 48% of these alterations represented high‐burden mutations, while 52% were low‐burden TP53 mutations. Low‐burden mutations as sole alterations were identified in 39% (62/158) of all mutated cases with 82% (51/62) of these being represented by a single low‐burden TP53 mutation. Patients harbouring low‐burden TP53 mutations had significantly lower time to first treatment compared to patients with wild‐type TP53. Our study has expanded the knowledge on the frequency, clonal architecture, and clinical impact of low‐burden TP53 mutations. By demonstrating that patients with sole low‐burden TP53 variants represent more than one‐third of patients with TP53 mutations and have an increased risk for treatment initiation, our findings strengthen the need to redefine the threshold of TP53 variant reporting to below 10% in the routine diagnostic setting