Phacomatosis pigmentokeratotica (PPK) is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies. A preterm male infant of only 830 g at 27 week gestational age had an organoid nevus showing sebaceous differentiation. Also, he had multiple speckled-lentiginous nevus. Correlating the observed clinical presentation with the histopathological findings, the diagnosis of PPK was established. There have been less than 10 cases of PPK without extracutaneous manifestation. We present an uncommon case of a preterm patient with PPK who had no extracutaneous abnormalities.
Diagnosis, Differential ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature ; Male ; Nevus, Pigmented/*diagnosis/pathology ; Skin Neoplasms/*diagnosis/pathology

Oral allergy syndrome (OAS) is a subtype of food allergy composing of itching sense and edema in the oral cavity, lips, throat, pharynx, and larynx following ingestion of some fresh fruits or vegetables. Although the major pathogenic mechanism of OAS is known to be IgE-mediated response, here we experienced a case of OAS due to crown daisy (CD) and sesame leaf (SL) mediated by a non-IgE antibody mediated mechanism. A 33-year-old female visited our clinic to evaluate numbness of the tongue and gingiva after eating fresh CD and SL for 2 years. The patient had suffered from allergic rhinitis and atopic dermatitis for 20 years and took medications intermittently. There had been a history of food allergy to crab and shrimp. The serum total IgE level was elevated (404 kU/mL). The skin prick test showed strong positive reactions to tree and weed pollens, but not to CD and SL extracts. Enzyme-linked immunosorbant assay for detecting serum specific IgE to crude extracts of CD and SL showed negative results. The basophil activation test performed with crude extracts of CD or SL showed significant up-regulation of CD63-positive basophils by both CD and SL. In conclusion, we report a case of OAS due to CD and SL, not associated with pollen allergy, which is shown to be mediated by a non-IgE mediated mechanism.
Adult ; Basophils ; Complex Mixtures ; Crowns* ; Dermatitis, Atopic ; Eating ; Edema ; Female ; Food Hypersensitivity ; Fruit ; Gingiva ; Humans ; Hypersensitivity* ; Hypesthesia ; Immunoglobulin E ; Larynx ; Lip ; Mouth ; Pharynx ; Pollen ; Pruritus ; Rhinitis ; Rhinitis, Allergic, Seasonal ; Sesamum* ; Skin ; Tongue ; Up-Regulation ; Vegetables

Eosinophilic gastroenteritis (EG) is a rare disease characterized by massive eosinophilic infiltration of gastrointestinal tissue, peripheral eosinophilia, and nonspecific gastrointestinal symptoms. The mucosal type of EG commonly presented with malabsorption and anemia. However, the role of food allergy as a stimulus to EG has not yet been clearly defined. A 27-year-old man was referred to the Emergency Department with dyspepsia and leg swelling. The initial laboratory test should as follows: hemoglobin level, 6.4 g/dL; white blood cell count, 7,400/microL with 24.4% of eosinophil fraction; serum total protein, 3.9 g/dL; albumin level, 2.8 g/dL. Gastric endoscopy ruled out gastrointestinal bleeding showed multiple nodular raised lesions on the gastric antrum, which revealed increased eosinophilic infiltration (above 100/high power field). He had experienced nausea whenever eating beef, porks or fish. High serum specific IgE levels to offending foods (beef, 0.82 kU/L; pork, 0.83 kU/L; egg white, 0.40 kU/L; egg yolk, 0.54 kU/L; milk, 0.81 kU/L) were noted. He was instructed strictly to avoid food allergens with oral prednisolone therapy. Approximately 6 months after offending food restriction, the eosinophil count fell down to 400/microL, the hemoglobin level was returned to 11.5 g/dL and the serum albumin level was increased to 4.1 g/dL. We report a case of EG caused by multiple food allergy which leads to malabsorption and iron-deficiency anemia.
Adult ; Allergens ; Anemia* ; Anemia, Iron-Deficiency ; Dyspepsia ; Eating ; Egg White ; Egg Yolk ; Emergency Service, Hospital ; Endoscopy ; Eosinophilia ; Eosinophils* ; Food Hypersensitivity* ; Gastroenteritis* ; Hemorrhage ; Humans ; Immunoglobulin E ; Leg ; Leukocyte Count ; Malabsorption Syndromes ; Milk ; Nausea ; Prednisolone ; Pyloric Antrum ; Rare Diseases ; Serum Albumin

This study was performed to examine 1) Whether hypothermic cardiac arrest produces myocardial HSP72 expression; 2) And if, whether it serves to protect the heart against the subsequent hypothermic arrest. In the present study, neonatal rats were placed in an icebath to induce hypothermia. To determine whether hypothermic cardiac arrest produces myocardial HSP72, experimental animals were subjected to 10-min hypothermic insult before the extraction of the heart. The intervals between the insult and extraction were 1 (1 HR), 4 (4 HR), 8 (8 HR), 24 (24 HR) or 72 (72HR) hours. A minimal amount of HSP72 was detected in control, 1 HR and 72 HR groups. In contrast, 8 HR and 24 HR groups showed a significant level of HSP72 expressions. To assess the cardioprotective effect of HSP72 against hypothermic cardiac arrest, we compared the proportion of recovery from the arrest between control and preconditioned (PREC) animals. Control animals were subjected to 20-min hypothermic insult, while PREC group was preconditioned by 10-min hypothermic insult 8 hours before the 20-min test hypothermic insult. Resuscitation rate from cardiac arrest induced by the 20-min hypothermic insult in PREC group was significantly higher than that in controls. These results suggest that the cardioprotective effect of hypothermic preconditioning is associated with an increase in HSP72 expression.
Animals ; Heart ; Heart Arrest ; Hypothermia ; Incidence* ; Rats* ; Resuscitation

Both immediate and delayed hypersensitivity reactions to iodinated contrast media (ICM) are relatively common. However, there are few data to determine the clinical utility of immunologic evaluation of ICM. To evaluate the utility of ICM skin testing in patients with ICM hypersensitivity, 23 patients (17 immediate and 6 delayed reactions) were enrolled from 3 university hospitals in Korea. With 6 commonly used ICM including iopromide, iohexol, ioversol, iomeprol, iopamidol and iodixanol, skin prick (SPT), intradermal (IDT) and patch tests were performed. Of 10 patients with anaphylaxis, 3 (30.0%) and 6 (60.0%) were positive respectively on SPTs and IDTs with the culprit ICM. Three of 6 patients with urticaria showed positive IDTs. In total, 11 (64.7%) had positive on either SPT or IDT. Three of 6 patients with delayed rashes had positive response to patch test and/or delayed IDT. Among 5 patients (3 anaphylaxis, 1 urticaria and 1 delayed rash) taken subsequent radiological examinations, 3 patients administered safe alternatives according to the results of skin testing had no adverse reaction. However, anaphylaxis developed in the other 2 patients administered the culprit ICM again. With 64.7% (11/17) and 50% (3/6) of the sensitivities of corresponding allergic skin tests with culprit ICM for immediate and delayed hypersensitivity reactions, the present study suggests that skin tests is useful for the diagnosis of ICM hypersensitivity and for selecting safe ICM and preventing a recurrence of anaphylaxis caused by the same ICM.
Anaphylaxis/chemically induced/diagnosis/immunology ; Contrast Media/*adverse effects ; Cross Reactions/immunology ; Dermatitis, Contact/*diagnosis/*immunology ; Drug Hypersensitivity/diagnosis ; Female ; Humans ; Iodides/*immunology ; Iohexol/analogs & derivatives ; Iopamidol/analogs & derivatives ; Male ; Middle Aged ; Republic of Korea ; Skin Tests/*methods ; Triiodobenzoic Acids ; Urticaria/diagnosis/immunology

BACKGROUND: Atelosteogenesis type I (AO-I) is a rare lethal skeletal dysplastic disorder characterized by severe short-limbed dwarfism and dislocated hips, knees, and elbows. AO-I is caused by mutations in the filamin B (FLNB) gene; however, several other genes can cause AO-like lethal skeletal dysplasias. METHODS: In order to screen all possible genes associated with AO-like lethal skeletal dysplasias simultaneously, we performed whole-exome sequencing in a female newborn having clinical features of AO-I. RESULTS: Exome sequencing identified a novel missense variant (c.517G>A; p.Ala173Thr) in exon 2 of the FLNB gene in the patient. Sanger sequencing validated this variant, and genetic analysis of the patient's parents suggested a de novo occurrence of the variant. CONCLUSIONS: This study shows that exome sequencing can be a useful tool for the identification of causative mutations in lethal skeletal dysplasia patients.
Exome ; Female ; Filamins/chemistry/*genetics ; Gene Frequency ; Heterozygote ; Humans ; Infant, Newborn ; Mutation, Missense ; Osteochondrodysplasias/*genetics/pathology/radiography ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

Platelet rich plasma (PRP) therapy has been growing in popularity as a viable treatment alternative for a number of clinical applications and has a potential benefit for use in wound healing. The objective of the present study was to verify the effectiveness of PRP in the management of the refractory cutaneous ulcer associated with Nicolau syndrome. A 73-year-old woman with a diclofenac sodium intramuscular injection history in a local clinic presented with a severely painful acute necrotic ulcer on the right buttock. The ulcerative wound showed no improvement despite having conventional treatment for 1 month. After 3 weeks of the PRP treatment, the wound evolved favorably, with the alleviation of severe pain. It showed a size reduction of more than 80% after 4 months of regular follow up. The result demonstrated that PRP treatment could be an appropriate option for an extensive refractory ulceration associated with Nicolau syndrome.
Blood Platelets ; Buttocks ; Diclofenac ; Female ; Follow-Up Studies ; Humans ; Injections, Intramuscular ; Platelet-Rich Plasma ; Ulcer ; Wound Healing

Blood flow restoration to ischemic zone of the heart is essential to salvage of ischemic tissue. However, there is a large body of evidence documenting that the reperfusion can induce reperfusion injury like reperfusion-induced malignant arrhythmias. In the present study, employing a cat model of regional cardiac ischemia, we examined if reperfusion rendered in a gradual fashion could lower the incidence of reperfusion-induced ventricular fibrillation (VF), which usually precipitated within a few to several tens of seconds after abrupt reperfusion. The experiments were conducted with male mongrel cats (n=46, 2.5-5 kg). The animals in the control and 30 MIN groups were subjected to an episode of 20- and 30-min left anterior descending coronary artery occlusion, respectively, followed by abrupt reperfusion. The animals in 5 G and 10 G groups received gradual reperfusion over a 5- and 10-min period, respectively, following a 20-min occlusion. The proportion of animals that exhibited VF during the reperfusion phase was 11/15 in the control, 7/10 in the 30 MIN, 5/10 in the 5 G and 2/11 in the 10 G groups. The incidence of VF in the 10 G group was significantly lower than that in the control or 30 MIN group subjected to abrupt reperfusion. These results suggest that the gradual reperfusion is a useful procedure against reperfusion-induced VF.
Animals ; Arrhythmias, Cardiac ; Cats* ; Coronary Vessels ; Heart ; Humans ; Incidence* ; Ischemia* ; Male ; Reperfusion Injury ; Reperfusion* ; Transcutaneous Electric Nerve Stimulation ; Ventricular Fibrillation*

The causal relationship between heat shock protein (HSP) and second window of cardioprotective effect is still undetermined. In the present study, we assessed whether HSP-producing substances, amphetamine and ketamine, afforded protection against reperfusion-induced ventricular fibrillation (VF) and these protective effect remained after the inhibition of HSP72 production by quercetin, a mitochondrial ATPase inhibitor. Adult mongreal male cats (n=60, 2.5 ~ 4 kg) were used in this study. Experimental animals were divided into five groups; control group (n=15), amphetamine ('A', n=11) group, ketamine ('K', n=9) group, amphetamine-ketamine ('AK', n=16) group and amphetamine-ketamine-quercetin ('AKQ', n=9) group. Twenty-four hours after the drug treatment, an episode of 20-min coronary artery occlusion was followed by 10-min reperfusion. The incidence of reperfusion-induced VF in the AK and AKQ groups was significantly lower than that in control group (p<0.01). After the ischemia/reperfusion procedure, western blot analysis of HSP72 expression in the myocardial tissues resected from each group was performed. HSP72 production in the AK group was marked, whereas HSP72 was not detected in the AKQ and control groups. These results suggest that the suppressive effect against reperfusion-induced VF induced by amphetamine and ketamine is not mediated by myocardial HSP72 production but by other mechanisms.
Adenosine Triphosphatases ; Adult ; Amphetamine ; Animals ; Arrhythmias, Cardiac* ; Blotting, Western ; Cats ; Coronary Vessels ; Heat-Shock Proteins* ; Hot Temperature* ; HSP72 Heat-Shock Proteins* ; Humans ; Incidence ; Ketamine ; Male ; Quercetin ; Reperfusion* ; Ventricular Fibrillation

Objective To evaluate the effect of 56 ancestry informative single nucleotide polymorphism （aiSNP） genetic markers in the ForenSeq^TM DNA Signature Prep Kit on ancestry inference. Methods A total of 85 samples from five populations including Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population, Xinjiang Uygur autonomous region Uygur population and Nigerian population were collected. The library was constructed with the ForenSeq^TM DNA Signature Prep Kit and sequencing was performed based on the MiSeq FGx Forensic Genomics System. Using universal analysis software （UAS） of ForenSeq^TM, principal component analysis （PCA）, Structure and likelihood ratio method was used on the genotyping data of 56 aiSNP markers, respectively, and the genetic relationships between populations and inference of the origin of ancestors were analyzed. Results Among the five populations tested, the four ethnic populations in China （Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population and Xinjiang Uygur autonomous region Uygur population） could be significantly distinguished from Nigerian population. Xinjiang Uygur autonomous region Uygur individuals were shown as having mixed origins of ancestors and could be distinguished from the other three Chinese populations. However, the other three populations in China （Hebei Han population, Inner Mongolia autonomous region Mongolian population and Tibet autonomous region Tibetan population） could not be effectively distinguished by the system. Conclusion The 56 aiSNP markers in the ForenSeq^TM DNA Signature Prep Kit can make accurate ancestry inference from the intercontinental level, but it is not yet able to distinguish between Chinese subpopulations.
Asian People/genetics* ; China ; DNA ; DNA Fingerprinting ; Ethnicity/genetics* ; Forensic Genetics/methods* ; Genetics, Population ; High-Throughput Nucleotide Sequencing/methods* ; Humans ; Polymorphism, Single Nucleotide