Involvement of heme oxygenase-1 induction in anti-vascular inflammation effects of Xanthoceras sorbifolia in human umbilical vein endothelial cells.

OBJECTIVE: To define the effects of Xanthoceras sorbifolia (EXS) on vascular inflammation and the mechanisms in endothelial cells. METHODS: Vascular protective effects of an ethanol extract of seeds from EXS (1-50 µg/mL) against tumor necrosis factor-α (TNF-α)-induced vascular inflammation were examined in human umbilical vein endothelial cells (HUVECs). RESULTS: EXS significantly decreased TNF-α-induced expression of cell adhesion molecules, such as intracellular adhesion molecule-1, vascular cell adhesion molecule-1, and endothelial cell selectin, in a dose-dependent manner. Pre-treatment with EXS significantly inhibited translocation and transcriptional activity of nuclear factor-κB (NF-κB) increased by TNF-α. EXS also significantly inhibited formation of intracellular reactive oxygen species (ROS). Moreover, the vascular protective effects of EXS were linked to up-regulation of heme oxygenase-1 (HO-1) and nuclear factor E2-related factor-2 (Nrf-2) expression. EXS-induced HO-1 expression was significantly decreased in SnPP (HO-1 inhibitor)- and HO-1 siRNA-treated cells, whereas an increase was found in cobalt protoporphyrin IX (CoPP) (HO-1 inducer)-treated cells. In addition, pretreatment with EXS increased HO-1 and Nrf-2 expression under TNF-α stimulation with or without N-acetyl-L-cysteine. Furthermore, the inhibitory effects of EXS on TNF-α-induced vascular inflammation were partially reversed in SnPP- and of HO-1 siRNA-treated cells but increased by CoPP. CONCLUSION: These results suggest that EXS may have important implications for prevention of vascular complications associated with vascular inflammation by inhibition of the NF-¦ÊB/ROS pathway and activation of the Nrf-2/HO-1 pathway.

Sinkihwan-gamibang ameliorates puromycin aminonucleoside-induced nephrotic syndrome / 中国天然药物

Nephrotic syndrome (NS) is a kidney disease characterized by hypertriglyceridemia, massive proteinuria, hypo-albuminemia and peripheral edema. Sinkihwan-gamibang (SKHGMB) was recorded in a traditional Chinese medical book named "Bangyakhappyeon ()" and its three prescriptions Sinkihwan, Geumgwe-sinkihwan, and Jesaeng-sinkihwan belong to Gamibang. This study confirmed the effect of SKHGMB on renal dysfunction in an NS model induced by puromycin aminonucleoside (PAN). The experimental NS model was induced in male Sprague Dawley (SD) rats through injection of PAN (50 mg·kg-1)via the femoral vein. SKHGMB not only reduced the size of the kidneys increased due to PAN-induced NS, but also decreased proteinuria and ascites. In addition, SKHGMB significantly ameliorated creatinine clearance, creatinine, and blood urea nitrogen. SKHGMB relieved glomeruli dilation and tubules fibrosis in the glomeruli of the NS model. SKHGMB inhibited the protein and mRNA levels of the NLRP3 inflammasome including NLRP3, ASC, and pro-caspase-1 in NS rats. SKHGMB reduced the protein and mRNA levels of fibrosis regulators in NS rats. The results indicated that SKHGMB exerts protective effects against renal dysfunction by inhibiting of renal inflammation and fibrosis in NS rats.

Trapping of Methylglyoxal by Sieboldin from Malus baccata L. and Identification of Sieboldin-Methylglyoxal Adducts Forms

The methylglyoxal (MGO) trapping constituents from Malus baccata L. were investigated using incubation of MGO and crude extract under physiological conditions followed by HPLC analysis. The peak areas of MGO trapping compounds decreased, and their chemical structures were identified by HPLC-ESI/MS. Sieboldin was identified as a major active molecule representing MGO-trapping activity of the crude extract. After reaction of sieboldin and MGO, remaining MGO was calculated by microplate assay method using imine (Schiff base) formation of 2,4-dinitrophenylhydrazine (DNPH) and aldehyde group. After 4 h incubation, sieboldin trapped over 43.8% MGO at a concentration of 0.33 mM and showed MGO scavenging activity with an RC 50 value of 0.88 mM for the incubation of 30 min under physiological conditions. It was also confirmed that sieboldin inhibited the production of advanced glycation end products (AGE) produced by bovine serum albumins (BSA)/MGO. Additionally, MGO trapping mechanism of sieboldin was more specifically identified by 1 H-, 13 C-, 2D NMR and, confirm to be attached to the position of C-3' (or 5').

Clinical Practice Guideline for Postoperative Rehabilitation in Older Patients With Hip Fractures

Objective@#The incidence of hip fractures is increasing worldwide with the aging population, causing a challenge to healthcare systems due to the associated morbidities and high risk of mortality. After hip fractures in frail geriatric patients, existing comorbidities worsen and new complications are prone to occur. Comprehensive rehabilitation is essential for promoting physical function recovery and minimizing complications, which can be achieved through a multidisciplinary approach. Recommendations are required to assist healthcare providers in making decisions on rehabilitation post-surgery. Clinical practice guidelines regarding rehabilitation (physical and occupational therapies) and management of comorbidities/complications in the postoperative phase of hip fractures have not been developed. This guideline aimed to provide evidence-based recommendations for various treatment items required for proper recovery after hip fracture surgeries. Methods Reflecting the complex perspectives associated with rehabilitation post-hip surgeries, 15 key questions (KQs) reflecting the complex perspectives associated with post-hip surgery rehabilitation were categorized into four areas: multidisciplinary, rehabilitation, community-care, and comorbidities/complications. Relevant literature from four databases (PubMed, EMBASE, Cochrane Library, and KoreaMed) was searched for articles published up to February 2020. The evidence level and recommended grade were determined according to the grade of recommendation assessment, development, and evaluation method. Results A multidisciplinary approach, progressive resistance exercises, and balance training are strongly recommended. Early ambulation, weigh-bearing exercises, activities of daily living training, community-level rehabilitation, management of comorbidities/complication prevention, and nutritional support were also suggested. This multidisciplinary approach reduced the total healthcare cost. @*Conclusion@#This guideline presents comprehensive recommendations for the rehabilitation of adult patients after hip fracture surgery.

Clinical Practice Guideline for Postoperative Rehabilitation in Older Patients With Hip Fractures

Objective@#The incidence of hip fractures is increasing worldwide with the aging population, causing a challenge to healthcare systems due to the associated morbidities and high risk of mortality. After hip fractures in frail geriatric patients, existing comorbidities worsen and new complications are prone to occur. Comprehensive rehabilitation is essential for promoting physical function recovery and minimizing complications, which can be achieved through a multidisciplinary approach. Recommendations are required to assist healthcare providers in making decisions on rehabilitation post-surgery. Clinical practice guidelines regarding rehabilitation (physical and occupational therapies) and management of comorbidities/complications in the postoperative phase of hip fractures have not been developed. This guideline aimed to provide evidence-based recommendations for various treatment items required for proper recovery after hip fracture surgeries. Methods Reflecting the complex perspectives associated with rehabilitation post-hip surgeries, 15 key questions (KQs) reflecting the complex perspectives associated with post-hip surgery rehabilitation were categorized into four areas: multidisciplinary, rehabilitation, community-care, and comorbidities/complications. Relevant literature from four databases (PubMed, EMBASE, Cochrane Library, and KoreaMed) was searched for articles published up to February 2020. The evidence level and recommended grade were determined according to the grade of recommendation assessment, development, and evaluation method. Results A multidisciplinary approach, progressive resistance exercises, and balance training are strongly recommended. Early ambulation, weigh-bearing exercises, activities of daily living training, community-level rehabilitation, management of comorbidities/complication prevention, and nutritional support were also suggested. This multidisciplinary approach reduced the total healthcare cost. @*Conclusion@#This guideline presents comprehensive recommendations for the rehabilitation of adult patients after hip fracture surgery.

Association between Dietary Carbohydrate Intake and Cardiovascular Risk Factors According to Low-Density Lipoprotein Cholesterol Levels in Korean Adults

Background@#Low-density lipoprotein (LDL) cholesterol is a strong predictor of cardiovascular disease, resulting in the promotion of low-fat diets that emphasize the need to lower LDL cholesterol levels. We investigated the relationship between dietary carbohydrate intake and cardiovascular risk factors according to LDL cholesterol levels in Korean adults who typically consumed high-carbohydrate, low-fat diets. @*Methods@#A total of 25,925 Korean adults were selected from the 2007-2015 Korea National Health and Nutrition Examination Surveys. Dietary carbohydrate intake was grouped into quintiles and cardiovascular risk factors included obesity, metabolic syndrome, type 2 diabetes, and dyslipidemia. Multiple logistic regression models were used to examine association between carbohydrate intake and cardiovascular risk factors by sex and LDL cholesterol levels. @*Results@#Subjects with LDL cholesterol ≥130 mg/dL had significantly less energy and fat intake than those with LDL cholesterol <130 mg/dL both in men and women. In men, a higher carbohydrate intake was related to increased prevalence of atherogenic dyslipidemia and low high-density lipoprotein (HDL) cholesterol regardless of LDL cholesterol levels. Meanwhile, dietary carbohydrate intake was positively associated with low HDL cholesterol but inversely associated with hypercholesterolemia only in women with LDL cholesterol <130 mg/dL. @*Conclusions@#High carbohydrate intake in Korean adults is associated with low HDL cholesterol or atherogenic dyslipidemia regardless of LDL cholesterol levels. Carbohydrate intake should be carefully recommended according to the lipid profiles of individuals for the prevention and management of cardiovascular disease.

Association between Dietary Carbohydrate Intake and Cardiovascular Risk Factors According to Low-Density Lipoprotein Cholesterol Levels in Korean Adults

Background@#Low-density lipoprotein (LDL) cholesterol is a strong predictor of cardiovascular disease, resulting in the promotion of low-fat diets that emphasize the need to lower LDL cholesterol levels. We investigated the relationship between dietary carbohydrate intake and cardiovascular risk factors according to LDL cholesterol levels in Korean adults who typically consumed high-carbohydrate, low-fat diets. @*Methods@#A total of 25,925 Korean adults were selected from the 2007-2015 Korea National Health and Nutrition Examination Surveys. Dietary carbohydrate intake was grouped into quintiles and cardiovascular risk factors included obesity, metabolic syndrome, type 2 diabetes, and dyslipidemia. Multiple logistic regression models were used to examine association between carbohydrate intake and cardiovascular risk factors by sex and LDL cholesterol levels. @*Results@#Subjects with LDL cholesterol ≥130 mg/dL had significantly less energy and fat intake than those with LDL cholesterol <130 mg/dL both in men and women. In men, a higher carbohydrate intake was related to increased prevalence of atherogenic dyslipidemia and low high-density lipoprotein (HDL) cholesterol regardless of LDL cholesterol levels. Meanwhile, dietary carbohydrate intake was positively associated with low HDL cholesterol but inversely associated with hypercholesterolemia only in women with LDL cholesterol <130 mg/dL. @*Conclusions@#High carbohydrate intake in Korean adults is associated with low HDL cholesterol or atherogenic dyslipidemia regardless of LDL cholesterol levels. Carbohydrate intake should be carefully recommended according to the lipid profiles of individuals for the prevention and management of cardiovascular disease.

Effects of galactagogue herbal tea containing Chrysanthemum indicum as the main component on milk production in postpartum rats / 한국영양학회지

Purpose@#Breastfeeding is the optimal method for feeding a newborn. But insufficient breast milk is the major reason why mothers give up breastfeeding. Herbal galactagogues have been used increasingly to treat postpartum hypogalactia. This study examined the effect of an herbal tea containing Chrysanthemum indicum, as the main ingredient, on milk production in lactating rats. @*Methods@#The herbal tea contained C. indicum (27%), Foeniculum vulgare Mill (21%), Pimpinella anisum (18.2%), Carum carvi (16.1%), Urtica dioica (14.7%), and Gardenia jasminoides (3%). Sixteen lactating Sprague-Dawley (SD) rats were divided randomly into 2 groups, the normal control group (NC; n = 8), and the galactagogue herbal tea group (GHT; n = 8) for 7 days. Lactating rats were administered the decoction of an herbal galactagogue mixture by oral gavage or the same amount of distilled water and milk production was assessed by measuring the pups' weights during the suckling period. The blood concentrations of prolactin, cortisol, oxytocin levels and mammary gland tissues were examined to assess the effects of the galactagogue. @*Results@#Milk production was 9.2% higher in the GHT group given the herbal tea than in the NC group and the difference was statistically significant. The cortisol level in the GHT group was 17.2% higher than the NC group. The herbal tea containing C. indicum increased the size of the alveoli epithelium cells and the mammary lobe. @*Conclusion@#The present study revealed the potential of herbal tea containing C. indicum to enhance milk production in postpartum SD rats.

Improvement of Dysphagia in Traumatic Neurovascular Compression: A Case Report and Collective Review / 대한연하장애학회지

Dysphagia is a relatively rare symptom of neurovascular compression of the lower cranial nerve (CN). Many case reviews of neurovascular compression required surgical treatment to improve the neurological symptoms. This report presents a 75-year-old female patient who complained of dysphagia due to neurovascular compression of CNs IX-XI at the left side after the onset period. The symptom was improved by treating with balloon swallowing rehabilitation (BSR). In a video fluoroscopic swallowing study (VFSS), no significant manifestations were observed in the oral phase. On the other hand, profuse post-swallow residue decreased pharyngeal propulsion were observed without aspiration or penetration during the semisolid portion of the swallowing test. To reduce the pharyngeal remnant and improve pharyngeal propulsion, the BSR protocol was performed and the patient recovered quickly.Follow-up VFSS showed improvement in the post-swallow residue from 42.6 to 7.3%. After discharge, the patient could resume a normal diet without complications. Based on this observed result, it is advantageous to consider the option of a prescribed rehabilitation program over surgical treatment.

Nutritional Management of a Patient with a High-Output Stoma after Extensive Small Bowel Resection to Treat Crohn's Disease

For patients with short bowel syndrome who undergo ileostomy, nutritional management is essential to prevent complications associated with a high-output stoma (HOS). We report a practical example of ostomic, medical nutrition therapy provided by an intensive nutritional support team (NST). A 42-year-old male with a history of Crohn's disease visited Seoul National University Hospital for treatment of mechanical ileus. He underwent loop ileostomy after extensive small bowel resection. As his remaining small bowel was only 160 cm in length, the stomal output was about 3,000 mL/day and his body weight fell from 52.4 to 40.3 kg. Given his clinical condition, continuous tube feeding for 24 h was used to promote adaptation of the remnant bowel. Thereafter, an oral diet was initiated and multiple, nutritional educational sessions were offered by dietitians. Constant infusion therapy was prescribed and included in the discharge plan. Two months after discharge, his body weight had increased to 46.6 kg and his hydration status was appropriately maintained. This case suggests that the critical features of medical nutritional therapy for ostomy management are frequent assessments of fluid balance, weight history, and laboratory data and after nutritional interventions.

Re-transmissibility of mouse-adapted ME7 scrapie strain to ovine PrP transgenic mice

Scrapie is a mammalian transmissible spongiform encephalopathy or prion disease that predominantly affects sheep and goats. Scrapie has been shown to overcome the species barrier via experimental infection of other rodents. To confirm the re-transmissibility of the mouse-adapted ME7 scrapie strain to ovine prion protein (PrP) transgenic mice, mice of an ovinized transgenic mouse line carrying the Suffolk sheep PrP gene that contained the A₁₃₆ R₁₅₄ Q₁₇₁/ARQ allele were intracerebrally inoculated with brain homogenates obtained from terminally ill ME7-infected C57BL/6J mice. Herein, we report that the mouse-adapted ME7 scrapie strain was successfully re-transmitted to the transgenic mice expressing ovine PrP. In addition, we observed changes in the incubation period, glycoform profile, and pattern of scrapie PrP (PrP(Sc)) deposition in the affected brains. PrP(Sc) deposition in the hippocampal region of the brain of 2nd-passaged ovine PrP transgenic mice was accompanied by plaque formation. These results reveal that the mouse-adapted ME7 scrapie strain has the capacity to act as a template for the conversion of ovine normal monomeric precursors into a pathogenic form in ovine PrP transgenic mice. The change in glycoform pattern and the deposition of plaques in the hippocampal region of the brain of the 2nd-passaged PrP transgenic mice are most likely cellular PrP species dependent rather than being ME7 scrapie strain encoded.

Gerstmann-Sträussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia

Genetic prion diseases account for about 10-15% of all cases of human prion disease and are caused by mutations in the prion protein gene. Gerstmann-Sträussler-Scheinker (GSS) disease is a rare genetic prion disease, which is characterized by slowly progressive cerebellar ataxia and the occurrence of cognitive decline in the later stage. P102L is the most common mutation in GSS. We report a patient with a P102L mutation that initially manifested as rapidly progressive dementia without cerebellar symptoms.

High-Carbohydrate Diets and Food Patterns and Their Associations with Metabolic Disease in the Korean Population

PURPOSE: Although an Asian diet is typically high in carbohydrate and low in fat, there has been a steady increase in the rate of cardiometabolic disease in Asian countries over the past decade. We evaluated food patterns of a high-carbohydrate diet and examined their associations with metabolic disease. MATERIALS AND METHODS: Using data from the 2013–2015 Korean National Health and Nutrition Examination Survey, we included a total of 13106 subjects aged 20 years or older in this study. Diet was divided into seven groups according to the percentage of energy from carbohydrates. Food patterns were evaluated as individual servings per food group. Multivariate logistic regression was conducted to estimate odds ratios (OR) for metabolic disease. RESULTS: The proportions of men and women exceeding the recommended range of carbohydrate intake were 58.0% and 60.0%, respectively. A higher carbohydrate diet was associated with intake of low energy and saturated fats, with more grains and fruit, but less meat, fish, egg, bean (MFEB), and dairy consumption. Carbohydrate intake decreased by 3.0–3.4% per serving of MFEB and milk. In men, the highest carbohydrate group showed an OR of 1.35 [95% confidence interval (CI), 0.91 to 1.99] for metabolic syndrome, although this failed to show statistical significance. In women, the highest carbohydrate group had an OR of 1.38 (95% CI, 1.06 to 1.80) for a reduced level of high-density lipoprotein cholesterol. CONCLUSION: This study suggests that a very-high-carbohydrate diet for the Korean population is attributable to lower consumption of MFEB and dairy products and is associated with several metabolic risk factors. The appropriate distribution of macronutrients for the prevention and management of metabolic disease should be explored.

Beneficial Effect of Berberis amurensis Rupr. on Penile Erection / 中国结合医学杂志

<p><b>OBJECTIVE</b>To investigate whether the methanol extract of Berberis amurensis Rupr. (BAR) augments penile erection using in vitro and in vivo experiments.</p><p><b>METHODS</b>The ex vivo study used corpus cavernosum strips prepared from adult male New Zealand White rabbits. In in vivo studies for intracavernous pressure (ICP), blood pressure, mean arterial pressure (MAP), and increase of peak ICP were continuously monitored during electrical stimulation of Sprague-Dawley rats.</p><p><b>RESULTS</b>Preconstricted with phenylephrine (PE) in isolated endotheliumintact rabbit corus cavernosum, BAR relaxed penile smooth muscle in a dose-dependent manner, which was inhibited by pretreatment with NG-nitro-L-arginine methyl ester (L-NAME), a nitric oxide synthase inhibitor, and H-[1,2,4]-oxadiazole-[4,3-α]-quinoxalin-1-one, a soluble guanylyl cclase inhibitor. BAR significantly relaxed penile smooth muscles dose-dependently in ex vivo, and this was inhibited by pretreatment with L-NAME H-[1,2,4]-oxadiazole-[4,3-α]-quinoxalin-1-one. BAR-induced relaxation was significantly attenuated by pretreatment with tetraethylammonium (TEA, P<0.01), a nonselective K channel blocker, 4-aminopyridine (4-AP, P<0.01), a voltage-dependent K channel blocker, and charybdotoxin (P<0.01), a large and intermediate conductance Ca sensitive-K channel blocker, respectively. BAR induced an increase in peak ICP, ICP/MAP ratio and area under the curve dose dependently.</p><p><b>CONCLUSION</b>BAR augments penile erection via the nitric oxide/cyclic guanosine monophosphate system and Ca sensitive-K (BK and IK) channels in the corpus cavernosum.</p>

An Adequate Intake of Carbohydrates for Gestational Diabetes Mellitus / 임상당뇨병

Gestational diabetes mellitus (GDM) is commonly defined a frequent metabolic condition associated with pregnancy that leads to substantial maternal and perinatal complications. Medical nutrition therapy (MNT) is the cornerstone treatment on patients with GDM, and accordingly, it has a significant impact in women and newborns. The main purpose of MNT in GDM is carbohydrates because they are the major nutrient affecting postprandial euglycemia. Recent epidemiological studies suggest that low-carbohydrate intake is related to beneficial effects on maternal and newborn outcomes. Current evidence consistently supports the advantages of using the glycemic index for additional benefit. Therefore in this context, we will discuss from summarize studies involving carbohydrate in GDM. In addition, this article describes the efficacy of low glycemic index diet for the management of GDM.

Use of Dietary Supplements and Determinants of Taking Dietary Supplements by Gender in the Korean Population: Using the 4(th) Korean National Health and Nutrition Examination Survey (2007-2009) / 대한지역사회영양학회지

OBJECTIVES: Although dietary supplements use in Korea has been rapidly increasing and women are more likely to take dietary supplements more than men, only a few studies have been conducted to investigate factors contributing to gender differences in dietary supplement use in the Korean population. The aim of this study is to evaluate the prevalence of dietary supplement use and also identify gender-specific key factors that contribute to it using the data of the 4th KNHANES. METHODS: Subjects were divided into user and non-user groups according to the answer given to the question that asked whether they had used any dietary supplement for more than 2 weeks on a regular basis during the previous year. Factors related to dietary supplement use were examined by general characteristics, health behavior and eating behavior. RESULTS: Prevalence of dietary supplement use was 13.6% for men and 20.6% for women. Users were more likely to be middle-aged, have higher income and education, have a spouse, or reside in dong areas in both men and women. Regarding health behaviors, men with desirable lifestyle behavior were more likely to take dietary supplements, while men who smoked were less likely to take dietary supplements. Regarding disease history, both men and women with a current disease had higher odds of taking supplements. With regard to dietary behavior, frequent eating out and nutrition attitude were associated with higher odds of taking supplements in both men and in women. CONCLUSIONS: Health or dietary behavior related factors that were associated with taking supplements differed by gender. These findings can be useful for planning gender-specific dietary education and health programs.

Hwangryunhaedoktang exerts anti-inflammation on LPS-induced NO production by suppressing MAPK and NF- κB activation in RAW264.7 macrophages / 中西医结合学报

<p><b>OBJECTIVE</b>This study aimed to evaluate whether Hwangryunhaedoktang (HHT), a herbal compound, has an inhibitory effect on lipopolysaccharide (LPS)-induced inflammation in RAW264.7 macrophages.</p><p><b>METHODS</b>The effects of HHT were evaluated by confirming nitric oxide (NO) production and expression of inducible NO synthase (iNOS) and mitogen-activated protein kinases (MAPKs) in LPS-stimulated RAW264.7 macrophages via the Griess assay, Western blotting, and real-time reverse transcription quantitative polymerase chain reaction. Western blot analyses and luciferase assays were used to evaluate whether HHT has an effect on the phosphorylation and translocation of nuclear factor-κB (NF-κB). The secretion and expression of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) were determined via enzyme-linked immunosorbent assay and Western blot analyses.</p><p><b>RESULTS</b>HHT suppressed LPS-induced NO production and expression of iNOS in a dose-dependent manner. Additionally, MAPKs activation was also attenuated via inhibition of phosphorylation of extracellular signal-regulated kinases 1/2, c-Jun N-terminal kinase and p38 which were related to inflammatory pathway. Furthermore, HHT also effectively attenuated NF-κB activation and its translocation to the nucleus, a process that is closely linked to inflammation. LPS normally induced the expression of inflammatory cytokines such as TNF-α and IL-6, but the secretion and expression of TNF-α and IL-6 were significantly attenuated by pretreating the cells with HHT.</p><p><b>CONCLUSION</b>HHT suppressed LPS-induced NO production by blocking the activation of NF-κB and MAPK signaling pathways in RAW264.7 macrophages. Furthermore, HHT may have an anti-inflammatory effect by suppressing the LPS-induced secretion of TNF-α and IL-6. Therefore, the traditional herbal formula HHT might be a useful potential therapeutic agent for inflammation.</p>

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea / 소아과

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.

Real-Time Quaking-Induced Conversion Analysis for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in Korea

BACKGROUND AND PURPOSE: The level of 14-3-3 protein in the cerebrospinal fluid (CSF) is increased in Creutzfeldt-Jakob disease (CJD) patients, which has led to it being used as a clinical biomarker for the ante-mortem diagnosis of human prion diseases. However, the specificity of the 14-3-3 protein is less reliable for CJD diagnosis. Newly developed assays including real-time quaking-induced conversion (RT-QuIC) have made it possible to detect the PrPSc-like abnormal prion isoform with a high sensitivity in animal and human specimens that might contain a minute amount of PrP(Sc) due to in vitro prion replication. METHODS: This study applied a highly sensitive RT-QuIC assay using recombinant human PrP to detect PrP(Sc) in the CSF of 81 patients with sporadic CJD (sCJD) in Korea. RESULTS: RT-QuIC analysis of the CSF samples based on the expression levels of 14-3-3 and total tau proteins revealed positivity in 62 of 81 sCJD patients (sensitivity of 76.5%) but no positive results in the 100 non-CJD patients. CONCLUSIONS: The sensitivity of the RT-QuIC in this study was similar to that in some previous reports, and the specificity of RT-QuIC was higher than that of 14-3-3 in CSF, suggesting that RT-QuIC analysis can complement the weakness of the specificity of 14-3-3 for the diagnosis of sCJD. These results indicate that RT-QuIC might be very useful for the rapid and specific diagnosis of sCJD and provide a practical novel method for the ante-mortem diagnosis of human prion diseases.

Bcl-2 Knockdown Accelerates T Cell Receptor-Triggered Activation-Induced Cell Death in Jurkat T Cells

Cell death and survival are tightly controlled through the highly coordinated activation/inhibition of diverse signal transduction pathways to insure normal development and physiology. Imbalance between cell death and survival often leads to autoimmune diseases and cancer. Death receptors sense extracellular signals to induce caspase-mediated apoptosis. Acting upstream of CED-3 family proteases, such as caspase-3, Bcl-2 prevents apoptosis. Using short hairpin RNAs (shRNAs), we suppressed Bcl-2 expression in Jurkat T cells, and this increased TCR-triggered AICD and enhanced TNFR gene expression. Also, knockdown of Bcl-2 in Jurkat T cells suppressed the gene expression of FLIP, TNF receptor-associated factors 3 (TRAF3) and TRAF4. Furthermore, suppressed Bcl-2 expression increased caspase-3 and diminished nuclear factor kappa B (NF-kappaB) translocation.