Boerhaave's syndrome, spontaneous esophageal rupture, is lethal and associated with a 70% survival rate despite emergent surgical management in recent reports. Early diagnosis and management is critical for more favorable outcome. But, it is difficult to diagnose early because of the low incidence and lack of specific symptoms and signs. We experienced 37 year-old male patient with Boerhaave's syndrome who was heavy drinker, and suffered from chronic renal failure. He visited a hospital because of hematemesis and severe back pain. He was transferred to our hospital with a nasogastric tube insertion, which was penetrating the distal esophagus. A radiologic examination revealed that the distal tip was located in the left pleural cavity. It was assumed that the tube had passed through the preexisting perforation site. Operation was not performed emergently due to delay in diagnosis and severe hyperkalemia. The patient was in a septic condition, but had recovered slowly after systemic broad spectrum antibiotic therapy, pleural drainage and intrapleural antibiotic injections. An esophagography revealed no leakage of gastro-grafin on the 14th hospital day, and he later completely recovered from sepsis.
Adult ; Back Pain ; Diagnosis ; Drainage ; Early Diagnosis ; Esophageal Perforation ; Esophagus ; Hematemesis ; Humans ; Hyperkalemia ; Incidence ; Kidney Failure, Chronic ; Male ; Pleural Cavity* ; Rupture ; Sepsis ; Survival Rate

OBJECTS:We investigated a possible association between the polymorphic trinucleotide repeat(TNR) expansion in neuronal potassium channel gene KCNN3 and schizophrenia. METHODS: CAG/CTG repeat distribution in KCNN3, CTG18.1 and ERDA1 was examined and the copy number of ligation product in repeat expansion detection(RED) was measured in Korean patients with schizophrenia(n=245) and ethnically matched healthy controls(n=116). RESULTS: Longer alleles in the KCNN3 gene were over-represented in patients. The frequency of alleles with CAG repeats longer than 19 copy in the KCNN3 gene was higher in the patients with schizophrenia as compared to controls(73.3% vs. 65.1%;p=0.029, Fisher's exact test). And this difference was more prominent in schizophrenic patients with familial background(p=0.03, Fisher's exact test). We found no difference in the frequency of longer alleles between negative and positive subtypes of schizophrenia. Ligation product size in RED and alleles with CAG repeat number in the CTG18.1 gene was not increased in the patients. The copy number of ligation product in RED was highly correlated with CAG/CTG copies of ERDA1 in the patient group(r=0.45, p<0.001) as well as in the control group(r=0.44, p<0.001). However, CAG repeat length in the KCNN3 gene was not correlated with ERDA1 score. CONCLUSIONS: Our results support the hypothesis that the longer allele of KCNN3 may be considered as a candidate gene for schizophrenia, especially in the case with familial background. And the RED assay results was affected by the CAG copy number of ERDA1.
Alleles ; Humans ; Ligation ; Neurons ; Potassium Channels ; Schizophrenia*