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1.
Article in English | WPRIM | ID: wpr-1043344

ABSTRACT

Rare diseases are characterized by a low prevalence, which often means that patients with such diseases are undiagnosed and do not have effective treatment options. Neurodevelopmental and neurological disorders make up around 40% of rare diseases and in the past decade, there has been a surge in the identification of genes linked to these conditions. This has created the need for model organisms to reveal mechanisms and to assess therapeutic methods. Different model animals have been employed, like Caenorhabditis elegans, Drosophila, zebrafish, and mice, to investigate the rare neurological diseases and to identify the causative genes. While the zebrafish has become a popular animal model in the last decade, mainly for studying brain development, understanding neural circuits, and conducting chemical screens, the mouse has been a very well-known model for decades. This review explores the strengths and limitations of using zebrafish as a vertebrate animal model for rare neurological disorders, emphasizing the features that make this animal model promising for the research on these disorders.

2.
Article in English | WPRIM | ID: wpr-1043904

ABSTRACT

Background/Aims@#To evaluate the efficacy of quadruple-coated probiotics (gQlab) in patients with irritable bowel syndrome (IBS), focusing on sex differences and IBS subtypes. @*Methods@#One hundred and nine Rome III-diagnosed IBS patients were randomized into either a gQlab or placebo group and received either gQlab or a placebo for 4 weeks. Participants replied to questionnaires assessing compliance, symptoms, and safety. Fecal samples were collected at 0 and 4 weeks to measure the probiotic levels using real-time quantitative polymerase chain reaction (qPCR) and to perform metagenomic analysis via 16S ribosomal DNA sequencing. The primary endpoint was the change in the overall IBS symptoms after 4 weeks of treatment. @*Results@#Ninety-two subjects (47 and 45 in the gQlab and placebo groups, respectively) completed the study protocol. At week 4, there was a higher relief of the overall IBS symptoms in the gQlab group (P = 0.005). The overall IBS symptom improvement was statistically significant (P = 0.017) in female patients of the gQlab group compared with the placebo group. Among the IBS subtypes, constipation-predominant IBS patients showed significant relief of the overall IBS symptoms (P = 0.002). At week 4, the fecal microbiome profiles between the 2 groups did not differ, but the qPCR levels of Lactobacillus plantarum, Lactobacillus acidophilus, Lactobacillus helveticus, Bifidobacterium longum, and Bifidobacterium breve were increased in the gQlab group (P < 0.05 by repeated measures ANOVA). @*Conclusions@#gQlab administration can improve the overall IBS symptoms, especially in female and constipation-predominant IBS patients. Further research is necessary to clarify the pathophysiology behind sex-related treatment responses in IBS patients.

3.
Annals of Dermatology ; : 297-300, 2022.
Article in English | WPRIM | ID: wpr-937149

ABSTRACT

Inflammatory acquired Blaschko-linear dermatoses (IABLD) are a continuous concept involving diseases such as lichen striatus, blaschkitis, and atopic dermatitis. However, atopic dermatitis that showed increase in severity along Blaschko lines is rarely reported on its own. Herein, we report a rare case of atopic dermatitis with secondary prurigo nodularis along Blaschko lines, which may be valuable in broadening the concept of IABLD. A 28-year-old male presented with multiple, pruritic, brownish nodules on the left lower extremity along Blaschko lines for 3 to 4 years. The patient had atopic dermatitis since childhood. Histopathologic findings revealed compact orthohyperkeratosis, hypergranulosis, spongiosis, and irregular acanthosis in the epidermis. Fibrosis with vertically arranged collagen fibers and perivascular lymphohistiocytic infiltration were shown in the upper dermis. We diagnosed the case as secondary prurigo nodularis along Blaschko lines, accompanied by the preceding atopic dermatitis. We hypothesized that the patient’s underlying atopic dermatitis increased in severity along Blaschko lines, and prurigo nodularis occurred due to frequent scratching. The lesions improved with topical methylprednisolone cream, oral antihistamines and intralesional triamcinolone injection.

5.
Article in English | WPRIM | ID: wpr-811460

ABSTRACT

PURPOSE: We evaluated the usefulness of a home-based device (SwimCount™) compared with World Health Organization (WHO) 5th semen analysis in screening for male fertility in Asian men.MATERIALS AND METHODS: One hundred Asian men who visited CHA Seoul Station Fertility Center for evaluation of fertility were included. Semen samples were analyzed and compared with the SwimCount™ results. An aliquot of 0.5 mL of the semen sample was added to the SwimCount™ and a WHO 5th semen analysis was performed. Results were categorized as low (<5×10⁶/mL), and normal to high (≥5×10⁶/mL) total progressively motile sperm concentration. Receiver operating characteristic curve analysis was performed to evaluate the accuracy of the SwimCount™.RESULTS: The mean total progressively motile sperm concentration was 26.7×10⁶/mL. Semen analysis revealed that 28% of the samples were below the threshold count of 5 million/mL total progressively motile sperm concentration. The mean total progressively motile sperm concentration of the light color SwimCount™ result group determined by semen analysis was 7.5×10⁶/mL, and the mean total progressively motile sperm concentration of the moderate to dark color SwimCount™ result group was 34.2×10⁶/mL. An area under the receiver operating characteristic curve of 0.85 (95% confidence interval, 0.77–0.94; p<0.001) was obtained when the SwimCount™ was compared with semen analysis. The sensitivity and specificity were obtained at a cut off value of 5.0×10⁶/mL total progressively motile sperm concentration, giving a sensitivity and specificity of 87.5% and 73.4%.CONCLUSIONS: We confirmed the reliability of the SwimCount™ as a home-based device for male fertility by evaluating the total progressively motile sperm concentration.

6.
Article | WPRIM | ID: wpr-832931

ABSTRACT

Purpose@#This study was performed to evaluate the relationship between callosal microbleeds and anoxic brain injury. @*Materials and Methods@#Twenty-seven patients with anoxic brain injuries were analyzed and retrospectively compared to the control group of patients without a history of anoxic brain injury using Fisher's exact test regarding comorbidities and cerebral microbleeds. The patient group was subdivided according to the presence of callosal microbleeds. Fisher's exact test was used to compare the presence of typical MRI findings of anoxic brain injury, use of cardiopulmonary resuscitation, and prognosis. The Mann-Whitney U test was used to compare the interval between the occurrence of anoxic brain injury to MRI acquisition. @*Results@#The prevalence of cerebral microbleeds in the patient group was 29.6%, which was significantly higher than that in the control group at 3.7% (p = 0.012). All cerebral microbleeds in the patient group were in the corpus callosum. Compared with the callosal microbleed-absent group, the callosal microbleed-present group showed a tendency of good prognosis (6/8 vs. 11/19), fewer typical MRI findings of anoxic brain injury (2/8 vs. 10/19), and more cardiopulmonary resuscitation (6/8 vs. 12/19), although these differences did not reach statistical significance (p = 0.35, p = 0.19, and p = 0.45, respectively). @*Conclusion@#Callosal microbleeds may be an adjunctive MRI marker for anoxic brain injury.

7.
Article in English | WPRIM | ID: wpr-916716

ABSTRACT

A 27-year-old female presented with repeated seizures. As the left frontal lobe volume was enlarged in comparison with the right frontal lobe, hemimegalencephaly was suggested. Abnormal white matter fiber tracts running from the left frontal lobe to the fornix and hippocampus were found on diffusion tensor imaging (DTI). We performed quantitative measurements of brain volume and confirmed hemimegalencephaly. DTI and MRI-based volumetry techniques could be useful to objectively diagnose hemimegalencephaly.

8.
Ultrasonography ; : 37-43, 2019.
Article in English | WPRIM | ID: wpr-731043

ABSTRACT

PURPOSE: The purpose of this study was to investigate the feasibility of shear wave ultrasound elastography for differentiating superficial benign soft tissue masses through a comparison of their shear moduli. METHODS: We retrospectively analyzed 48 masses from 46 patients from February 2014 to May 2016. Surgical excision, fine-needle aspiration, and clinical findings were used for the differential diagnosis. The ultrasonographic examinations were conducted by a single musculoskeletal radiologist, and the ultrasonographic findings were reviewed by two other radiologists who were blinded to the final diagnosis. Conventional ultrasonographic features and the median shear modulus were evaluated. We compared the median shear moduli of epidermoid cysts, ganglion cysts, and lipomatous tumors using the Kruskal-Wallis test. Additionally, the Mann-Whitney U test was used to compare two distinct groups. RESULTS: Significant differences were found in the median shear moduli of epidermoid cysts, ganglion cysts, and lipomatous tumors (23.7, 5.8, and 9.2 kPa, respectively; P=0.019). Epidermoid cysts showed a greater median shear modulus than ganglion cysts (P=0.014) and lipomatous tumors (P=0.049). CONCLUSION: Shear wave elastography may contribute to the differential diagnosis of superficial benign soft tissue masses through a direct quantitative analysis.


Subject(s)
Humans , Biopsy, Fine-Needle , Diagnosis , Diagnosis, Differential , Elastic Modulus , Elasticity Imaging Techniques , Epidermal Cyst , Ganglion Cysts , Lipoma , Retrospective Studies , Shear Strength , Ultrasonography
9.
Annals of Dermatology ; : 462-470, 2017.
Article in English | WPRIM | ID: wpr-86513

ABSTRACT

BACKGROUND: Psoriasis is an immune-mediated, chronic inflammatory disease affecting multiple aspects of patients' lives. Its epidemiology varies regionally; however, nationwide epidemiologic data on psoriasis depicting profile of Korean patients has not been available to date. OBJECTIVE: To understand nationwide epidemiologic characteristics and clinical features of adult patients with psoriasis visited university hospitals in Korea. METHODS: This multicenter, non-interventional, cross-sectional study recruited 1,278 adult patients with psoriasis across 25 centers in Korea in 2013. Various clinical data including PASI, BSA, DLQI, SF-36 and PASE were collected. RESULTS: A total of 1,260 patients completed the study (male:female=1.47:1). The mean age was 47.0 years with a distribution mostly in the 50s (24.9%). Early onset (<40 years) of psoriasis accounted for 53.9% of patients. The mean disease duration was 109.2 months; mean body mass index was 23.9 kg/m²; and 12.7% of patients had a family history of psoriasis. Plaque and guttate types of psoriasis accounted for 85.8% and 8.4%, respectively. Patients with PASI ≥10 accounted for 24.9%; patients with body surface area ≥10 were 45.9%. Patients with DLQI ≥6 accounted for 78.8%. Between PASI <10 and PASI ≥10 groups, significant difference was noted in age at diagnosis, disease duration, blood pressure, waist circumference of female, and treatment experiences with phototherapy, systemic agents, and biologics. CONCLUSION: This was the first nationwide epidemiologic study of patients with psoriasis in Korea and provides an overview of the epidemiologic characteristics and clinical profiles of this patient population.


Subject(s)
Adult , Female , Humans , Biological Products , Blood Pressure , Body Mass Index , Body Surface Area , Cross-Sectional Studies , Diagnosis , Epidemiologic Studies , Epidemiology , Hospitals, University , Korea , Phototherapy , Psoriasis , Waist Circumference
10.
Article in English | WPRIM | ID: wpr-93429

ABSTRACT

Many active compounds present in Rhododendron brachycarpum have been used in traditional Oriental medicine for the treatment of various skin diseases. However, the precise mechanism of action of the compounds isolated from R. brachycarpum and their relevance as therapeutics for the treatment of psoriasis remain elusive. In this study, we report that rhododendrin isolated from R. brachycarpum strongly inhibits imiquimod (IMQ)-induced psoriasis-like skin inflammation in mice. We showed that topical treatment with rhododendrin reduces IMQ-induced skin hyperplasia, inflammatory mononuclear cell infiltration and the expression of pro-inflammatory mediators in mouse skin. In addition, we found that rhododendrin inhibits the activation of the TLR-7/NF-κB and mitogen-activated protein kinase pathways in both IMQ-induced psoriasis-like skin inflammation in mice and in normal human epidermal keratinocytes treated with IMQ. These results suggest that rhododendrin has an anti-inflammatory effect and can be used as a therapeutic to fight against psoriasis and other inflammatory skin diseases.


Subject(s)
Animals , Humans , Mice , Hyperplasia , Inflammation , Keratinocytes , Medicine, East Asian Traditional , Protein Kinases , Psoriasis , Rhododendron , Skin Diseases , Skin
11.
Annals of Dermatology ; : 548-558, 2017.
Article in English | WPRIM | ID: wpr-226488

ABSTRACT

BACKGROUND: VitabridC¹² is newly developed and composed of vitamin C and Vitabrid (lamellar, hydrated zinc oxide). OBJECTIVE: In this study, we aimed to investigate the effects of VitabridC¹² on psoriasis and atopic dermatitis. METHODS: Mice with imiquimod-induced psoriasis or Dermatophagoides farinae-induced atopic dermatitis were applied with VitabridC¹². The effects of VitabridC¹² were evaluated by clinical features, histology, and immunologic features by examining cytokines and chemokines. RESULTS: In psoriasis model, VitabridC¹² decreased epidermal thickness and reduced inflammatory cell infiltration. In atopic dermatitis model, VitabridC¹² decreased dermal infiltration of inflammatory cells, epidermal hyperplasia, and hyperkeratosis. VitabridC¹² reduced the expression levels of proinflammatory mediators such as interleukin (IL)-1β, IL-6, IL-8, IL-17A, IL-22, tumor necrosis factor-α, CXCL1, CCL17, and CCL20 as well as COX-2 in imiquimod-induced psoriatic skin lesions. Likewise, VitabridC¹² reduced the expression levels of IL-4, IL-5, IL-13, thymic stromal lymphopoietin, and CCL4 in D. farinae-induced skin lesions, and decreased the serum immunoglobulin E level in the atopic dermatitis mouse model. Particularly, the VitabridC¹²-treated mice showed downregulated expressions of mitogen-activated protein kinase (MAPK), including extracellular signal-regulated kinase (ERK), p38, and MAPK/ERK kinase, as well as inhibited phosphorylation of nuclear factor-κB p65. CONCLUSION: Taken together, these findings indicate that VitabridC¹² exhibits anti-inflammatory activities and is a promising candidate as a treatment option for psoriasis or atopic dermatitis.


Subject(s)
Animals , Mice , Ascorbic Acid , Chemokines , Cytokines , Dermatitis, Atopic , Hyperplasia , Immunoglobulin E , Immunoglobulins , Inflammation , Interleukin-13 , Interleukin-17 , Interleukin-4 , Interleukin-5 , Interleukin-6 , Interleukin-8 , Interleukins , Necrosis , Phosphorylation , Phosphotransferases , Protein Kinases , Psoriasis , Pyroglyphidae , Skin , Zinc
12.
Natural Product Sciences ; : 252-258, 2016.
Article in English | WPRIM | ID: wpr-146020

ABSTRACT

Vitex trifolia L. has been used traditionally to treat various illnesses, such as inflammation, headache, migraine, and gastrointestinal infections. We analyzed and evaluated the composition of V. trifolia leaf oil. Based on the results, we isolated abietatriene from V. trifolia leaf oil and investigated the effect of V. trifolia leaf oil and its active compound abietatriene on melanogenesis in B16F10 melanoma cells. They significantly decreased melanin contents and melanogenic factors, such as tyrosinase, TRP-1, TRP-2, and MITF dose-dependently in both protein and mRNA levels. Protein and mRNA expressions were determined by Western blot analysis and quantitative real time RT-PCR. Findings indicate that V. trifolia leaf oil and abietatriene reduce melanogenesis by regulating the expression of melanogenic factors. These results suggest that V. trifolia leaf oil and abietatriene could comprise a useful therapeutic agent for treating hyperpigmentation and used as effective skin-whitening agents.


Subject(s)
Blotting, Western , Hyperpigmentation , Inflammation , Melanins , Melanoma , Migraine Disorders , Monophenol Monooxygenase , RNA, Messenger , Vitex
13.
Article in Korean | WPRIM | ID: wpr-46097

ABSTRACT

Disseminated superficial actinic porokeratosis, a variant of porokeratosis, is an uncommon, hereditary or acquired keratinization disorder. It is characterized histologically by cornoid lamella and clinically by central atrophy with elevated borders. Porokeratosis lesions may be triggered by UV light exposure, infection, hematopoietic malignancies, or immunosuppression, but are rarely reported associated with malignancies of visceral organs. We herein report an unusual case of a patient with colon cancer who noted sudden exacerbation of a previously unrecognized disseminated superficial actinic porokeratosis lesion after being treated with chemotherapy.


Subject(s)
Humans , Atrophy , Colon , Colonic Neoplasms , Drug Therapy , Hematologic Neoplasms , Immunosuppression Therapy , Porokeratosis , Ultraviolet Rays
14.
Annals of Dermatology ; : 785-786, 2014.
Article in English | WPRIM | ID: wpr-84172

ABSTRACT

No abstract available.


Subject(s)
Iodine , Psoriasis
15.
Article in Korean | WPRIM | ID: wpr-41362

ABSTRACT

We report a rare case of bullous scabies with bullous pemphigoid in a 59-year-old male patient. He presented with a 9-month history of exhibiting multiple, variable-sized, red-to-brown, pruritic cutaneous patches, and papules with tense bullae on his whole body. A direct smear of the bullous lesions was performed and was negative for scabies mites. Histopathologic findings (hematoxylin and eosin staining) revealed Sarcoptes scabiei in the stratum corneum. There were sub-epidermal blisters with massive eosinophil and lymphocyte infiltration in the epidermis and upper dermis. Direct immunofluorescence microscopy showed linear deposition of IgG at the dermo-epidermal junction. Indirect immunofluorescence microscopy of samples acquired for the salt-split skin test showed linear IgG deposition in the epidermis. Skin lesions improved after the patient was treated with an anti-scabietic and steroids.


Subject(s)
Humans , Male , Middle Aged , Blister , Dermis , Eosine Yellowish-(YS) , Eosinophils , Epidermis , Fluorescent Antibody Technique, Direct , Fluorescent Antibody Technique, Indirect , Immunoglobulin G , Lymphocytes , Microscopy , Mites , Pemphigoid, Bullous , Sarcoptes scabiei , Scabies , Skin , Skin Tests , Steroids , Transcutaneous Electric Nerve Stimulation
16.
Article in Korean | WPRIM | ID: wpr-122328

ABSTRACT

Infliximab (Remicade(R)) has been used for treating many chronic inflammatory diseases, including rheumatoid arthritis, ankylosing spondylitis, Crohn's disease, and psoriasis. Complications such as infusion reaction and infection in infliximab therapy have been reported, but renal complications are rare. We present data on a patient with psoriasis for 15 years who developed new onset renal disorders (IgA nephropathy, acute tubulointerstitial nephritis, acute tubular necrosis) after treatment with infliximab (duration of therapy: 12 months, 8 times). Because the patient with psoriasis receiving infliximab may develop new onset renal disorders, we recommend the evaluation of renal function.


Subject(s)
Humans , Arthritis, Rheumatoid , Crohn Disease , Nephritis, Interstitial , Psoriasis , Spondylitis, Ankylosing , Infliximab
17.
Article in English | WPRIM | ID: wpr-107229

ABSTRACT

No abstract available.


Subject(s)
Histiocytoma, Benign Fibrous , Lip
18.
Article in English | WPRIM | ID: wpr-161406

ABSTRACT

Inflammation is a part of the complex biological responses of a tissue to injury that protect the organ by removing injurious stimuli and initiating the healing process, and is considered as a mechanism of innate immunity. To identify biologically active compounds against pathogenic inflammatory and immune responses, we fractionated water, aqueous methanol and n-hexane layers from nine kinds of leguminosae and examined anti-inflammatory activity of the fractions in human keratinocytes and mouse skin. Among the fractions, rf3 and rf4, isolated from the aqueous methanol layer of Astragalus sinicus L., exhibited the strongest reactive oxygen species (ROS)-scavenging and anti-inflammatory activities as measured by inhibition of the intracellular ROS production, nuclear factor-kappaB (NF-kappaB), janus kinase (JAK)/signal transducer and activator of transcription (STAT), and phosphatidylinositol 3-kinase/Akt signaling in cytokine-stimulated human keratinocytes, as well as by effects on T-cell differentiation in mouse CD4+ T cells. In addition, topical application of rf3 and rf4 suppressed the progression of psoriasis-like dermatitis and expression of pro-inflammatory mediators in interleukin (IL)-23-injected mouse ears. Our results suggest that Astragalus sinicus L. may ameliorate chronic inflammatory skin diseases due to its antioxidant and anti-inflammatory activities via regulation of the intracellular ROS production, NF-kappaB, JAK/STAT and PI3/Akt signaling cascades as well as immune responses, and these results are the first report that Astragalus sinicus L. exhibits pharmacological activity.


Subject(s)
Animals , Humans , Mice , Anti-Inflammatory Agents/isolation & purification , Astragalus Plant/chemistry , Cell Line , Dermatitis/drug therapy , Interleukin-23/pharmacology , Janus Kinases/metabolism , Keratinocytes/drug effects , Mice, Inbred C57BL , NF-kappa B/metabolism , Phosphatidylinositol 3-Kinases/metabolism , Plant Extracts/isolation & purification , Proto-Oncogene Proteins c-akt/metabolism , Reactive Oxygen Species/metabolism , STAT Transcription Factors/metabolism , Skin/drug effects
19.
Annals of Dermatology ; : 639-640, 2014.
Article in English | WPRIM | ID: wpr-185038

ABSTRACT

No abstract available.


Subject(s)
Fibrous Dysplasia, Polyostotic
20.
Article in English | WPRIM | ID: wpr-221335

ABSTRACT

PURPOSE: To identify the risk factors of major adverse cardiac event (MACE) in patients with chronic atherosclerotic lower extremity ischemia (CALEI) undergoing revascularization without noninvasive stress testing (NIST). METHODS: From January 2007 to January 2012, patients with CALEI who underwent revascularization were retrospectively reviewed. Emergent operations, revision procedures for previous surgery, or patients with active cardiac conditions were excluded. NIST was not performed for patients without active cardiac conditions. Cardiac risk was categorized into low, intermediate and high risk, according to the Lee's revised cardiac risk index. MACE was defined as acute myocardial infarction or any cardiac death within 30 days after surgery. RESULTS: A total of 459 patients underwent elective lower extremity revascularization procedures (240 open surgeries, 128 endovascular procedures, and 91 hybrid surgeries). The treated lesions comprised of 18% aorto-iliac, 58% infrainguinal, and 24% combined lesions. With regard to cardiac risk, low-, intermediate- and high risks were 67%, 32% and 2%, respectively. MACE was developed in 7 patients (2%). High or intermediate risk group by the Lee's index was related to postoperative MACE. Subgroup analysis for open surgery or hybrid surgery group identified female gender as an independent risk factor of MACE (P = 0.049; odds ratio, 5.168; confidence interval, 1.011 to 26.423). CONCLUSION: The Lee's index was a useful predictor of MACE. MACE is more common in female patients than male patients after open or hybrid surgery. Routine preoperative NIST is not suggested for all patients undergoing revascularization for CALEI, especially for those in the low risk group.


Subject(s)
Female , Humans , Male , Chimera , Death , Endovascular Procedures , Exercise Test , Ischemia , Lower Extremity , Myocardial Infarction , Odds Ratio , Peripheral Arterial Disease , Postoperative Complications , Retrospective Studies , Risk Factors
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