Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome

Eosinophilic gastroenteritis is a rare disease characterized by prominent eosinophilic tissue infiltration of the gastrointestinal tract. Here, we report a case of eosinophilic gastroenteritis in an 18-year-old patient with prolonged nephrotic syndrome who presented with abdominal pain and peripheral hypereosinophilia. During the previous 2 years, he had visited local Emergency Department several times because of epigastric pain and nausea. He had been treated with steroid-dependent nephrotic syndrome since 3 years of age. Tests ruled out allergic and parasitic disease etiologies. Gastroduodenoscopy with biopsy revealed marked eosinophilic infiltration in the duodenum. Renal biopsy findings indicated minimal change disease spectrum without eosinophilic infiltration. The oral deflazacort dosage was increased, and the patient was discharged after abdominal pain resolved. To our knowledge, this is the first report of eosinophilic gastroenteritis in a patient with minimal change disease

Takayasu's Arteritis Treated by Percutaneous Transluminal Angioplasty with Stenting in the Descending Aorta

A 17-yr-old young woman was referred to our hospital with a 2-yr history of claudication of the lower extremities and severe arterial hypertension. Physical examination revealed significantly different blood pressures between both arms (160/92 and 180/95 mmHg) and legs (92/61 and 82/57 mmHg). The hematological and biochemical values were within their normal ranges, except for the increased erythrocyte sedimentation rate (83 mm/hr) and C-reactive protein (6.19 mg/L). On 3-dimensional computed tomographic angiography, the ascending aorta, the aortic arch and its branches, and the thoracic and, descending aorta, but not the renal artery, were shown to be stenotic. The diagnosis of type IIb Takayasu's arteritis was made according to the new angiographic classification of Takayasu's arteritis, Takyasu conference 1994. Percutaneous transluminal angioplasty with stenting was performed on the thoracic and abdominal aorta. After the interventional procedures, the upper extremity blood pressure improved from 162/101 mmHg to 132/85 mmHg, respectively. She has been free of claudication and there have been no cardiac events during 2-yr of clinical follow-up

Inhalation toxicity of humidifier disinfectants as a risk factor of children’s interstitial lung disease in Korea: a case-control study

Abstract Background: The occurrence of numerous cases of interstitial lung disease in children (chILD) every spring in Korea starting in 2006 raised suspicion about a causal relationship with the use of humidifier disinfectants (HDs). The aim of this study was to evaluate the association between HD use and the risk of chILD

Stereochemistry, isotope effects, and inhibition of terpene biosynthesis: I. Stereospecificity and mechanism of monoterpene cyclases. II. Inhibition by heteroatom analogs of carbocation intermediates

Stereospecificity and mechanism of monoterpene cyclases have been investigated by use of deuterium and tritium labeled substrates. The stereochemistry of the terminating deprotonation in limonene biosynthesis was elucidated by radiochemical degradation of (\sp3H) carvoximes. Limonene cyclases extracted from Citrus sinensis and Perilla frutescens effected regiospecific deprotonation, but pinene cyclases I and II from Salvia officinalis deprotonate non-regiospecifically. Deuterium isotope effects on the monoterpene product distribution from incubations of (1-\sp3H;8,9-\sp2H\sb6) GPP with the pinene cyclases are too small to explain by isotopically sensitive branching between limonene and the bicyclic monoterpenes.(3R,4R)-($-$)- And (3S,4S)-(+)-(4-\sp2H\sb1)linalool were synthesized to elucidate the stereospecificity of the terminating deprotonations in $\alpha$-pinene biosynthesis. The deuterium content of $\alpha$-pinene derived from the deuterated LPPs shows that the deprotonation in (+)-$\alpha$-pinene biosynthesis occurs stereospecifically by removal of the C4-H\sb{\rm R} hydrogen of (3R)-LPP, but that in ($-$)-$\alpha$-pinene biosynthesis removal of the enantiomeric C4-H\sb{\rm S} hydrogen occurs with only 83% stereoselectivity. This non-stereospecific deprotonation suggests that a two-base mechanism may be involved in the competitive formation of $\alpha$- and $\beta$-pinene.Aza and thia analogs of presumed $\alpha$-terpinyl and the bisabolyl carbocation intermediates were synthesized via degradation of enantiomeric limonenes for studies of terpene biosynthesis. The enantiomeric aza and thia analogs of the $\alpha$-terpinyl cation and the aza analog of the bisabolyl cation exhibited synergistic inhibition with PPi in kinetic evaluations of their effects on the pinene cyclases and trichodiene synthase, respectively. However, comparison of the inhibition data for each enantiomeric pair showed only small differences in the binding affinities. The additional isoprenyl unit on the aza analog of the bisabolyl cation increases the binding affinity to trichodiene synthase judging from a 8-10 fold decrease in K\sb{\rm i}.3-Aza-GGPP was found to inhibit GGPP synthase selectively in the presence of FPP synthase. Comparison of the inhibitory effects of (E,E,E)-, (Z,E,E)-, and 3-aza-GGPP supports the notion of a carbocation intermediate in the chain elongation process. However, 3-aza-GGPP was not an effective inhibitor for dehydrodolichyl PP synthase and farnesyl:protein transferase. Although the analog was found to inhibit geranylgeranyl:protein transferase, its binding affinity was about 10 times weaker than that of GGPP. In preliminary assays, ($\pm$)-3-aza-2-farnesyl-FPP inhibited squalene synthase with an I\sb{50} of $\sim$20-25 $\mu$M. (Abstract shortened with permission of author.)U of I OnlyETDs are only available to UIUC Users without author permissio

Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease

We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) in two unrelated Korean patients, diagnosed with early onset Alzheimer’s disease (EOAD). The first patient presented with memory decline when she was 64 years old. Magnetic resonance imaging (MRI) scans showed diffuse atrophy in the fronto-parietal regions. In addition, 18F-fludeoxyglucose positron emission tomography (FDG-PET) showed reduced tracer uptake in the parietal and temporal cortices, bilaterally. The second patient developed memory dysfunction at the age of 49, and his mother was also affected. Amyloid positron emission tomography (PET) was positive, but MRI scans did not reveal any atrophy. Targeted NGS and Sanger sequencing identified a heterozygous C to T exchange in PSEN1 exon 5 (c.356C>T), resulting in a p.Thr119Ile mutation. The mutation is located in the conserved HL-I loop, where several Alzheimer’s disease (AD) related mutations have been described. Structure analyses suggested that Thr119Ile mutation may result in a significant change inside conservative loop. Additional in vitro studies are needed to estimate the role of the PSEN1 Thr119Ile in AD disease progression