• Title/Summary/Keyword: Now Normal

Search Result 418, Processing Time 0.025 seconds

A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

  • Ko, Jung Min;Hah, J.-Hun;Kim, Suk-Wha;Cho, Tae-Joon;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
    • /
    • v.9 no.2
    • /
    • pp.89-92
    • /
    • 2012
  • Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

Ginsenosides: potential therapeutic source for fibrosis-associated human diseases

  • Li, Xiaobing;Mo, Nan;Li, Zhenzhen
    • Journal of Ginseng Research
    • /
    • v.44 no.3
    • /
    • pp.386-398
    • /
    • 2020
  • Tissue fibrosis is an eventual pathologic change of numerous chronic illnesses, which is characterized by resident fibroblasts differentiation into myofibroblasts during inflammation, coupled with excessive extracellular matrix deposition in tissues, ultimately leading to failure of normal organ function. Now, there are many mechanistic insights into the pathogenesis of tissue fibrosis, which facilitate the discovery of effective antifibrotic drugs. Moreover, many chronic diseases remain a significant clinical unmet need. For the past five years, many research works have undoubtedly addressed the functional dependency of ginsenosides in different types of fibrosis and the successful remission in various animal models treated with ginsenosides. Caveolin-1, interleukin, thrombospondin-1 (TSP-1), liver X receptors (LXRs), Nrf2, microRNA-27b, PPARδ-STAT3, liver kinase B1 (LKB1)-AMPK, and TGF-β1/Smads are potential therapy targeting using ginsenosides. Ginsenosides can play a targeting role and suppress chronic inflammatory response, collagen deposition, and epitheliale-mesenchymal transition (EMT), as well as myofibroblast activation to attenuate fibrosis. In this report, our aim was to focus on the therapeutic prospects of ginsenosides in fibrosis-related human diseases making use of results acquired from various animal models. These findings should provide important therapeutic clues and strategies for the exploration of new drugs for fibrosis treatment.

An Analysis of Flat-Crack in Homogeneous Anisotropic Solids Considering Non-Singular Term (비특이항을 고려한 균질이방성체내 수평균열의 해석)

  • Im, Won-Gyun;Choe, Seung-Ryong;An, Hyeon-Su
    • Transactions of the Korean Society of Mechanical Engineers A
    • /
    • v.24 no.1 s.173
    • /
    • pp.69-78
    • /
    • 2000
  • The one-parameter singular expression for stresses and displacements near a crack tip has been widely thought to be sufficiently accurate over a reasonable re ion for any geometry and loading conditions. In many cases, however subsequent terms of the series expansion are quantitatively significant, and so we now consider the evaluation of such terms and their effect on the predicted crack growth direction. For this purpose the problem of a cracked orthotropic plate subjected to a biaxial load is analysed. It is assumed that the material is ideal homogeneous anisotropic. BY considering the effect of the load applied parallel to the plane of the crack, the distribution of stresses and displacements at the crack tip is reanalyzed. In order to determine values for the angle of initial crack extension we employ the normal stress ratio criterion.

Feeding and Healing the Family of Man - the Role of Nutritional Supplements

  • Daily III James W.
    • Proceedings of the Korean Society of Food Science and Nutrition Conference
    • /
    • 2004.11a
    • /
    • pp.203-208
    • /
    • 2004
  • The Family of Man was a 1955 photographic exhibition that depicted normal people in all walks of life from around the world. The viewer was visually confronted with the similarity of all people. The people of the world are now facing common health challenges as a result of changing lifestyles and increasing healthcare costs. Dietary supplements have the potential to be part of the solution. Dietary supplementation with antioxidant vitamins may be the most effective intervention for preventing the onset of Alzheimer's disease in the rapidly expanding elderly population - and at a very low cost. AIDS is devastating much of the developing world, where few resources are available to treat it victims. Inexpensive multivitamin sup-plements have been demonstrated to slow the progression of AIDS, reduce the death rate, reduce AIDS-related morbidity, improve T cell counts, and reduce viral loads. Careful economic analysis demonstrate that calcium and folic acid supplementation could reduce healthcare costs in the USA by $13.9 billion and $1.3 billion, respectively. Most supplements with therapeutic potential have not been subjected to sufficiently rigorous research to permit unqualified public health recommendations. Carefully directed research is needed to identify the supplements with the greatest potential and to verify their safety and efficacy.

  • PDF

Genetic and Epigenetic Biomarkers on the Personalized Nutrition

  • An Sung-Whan
    • Proceedings of the Korean Society of Food Science and Nutrition Conference
    • /
    • 2004.11a
    • /
    • pp.271-274
    • /
    • 2004
  • Nutritional genomics is a new field of study of how nutrition interacts with an individual's genome or individual responds to individual diets. Systematic approach of nutritional genomics will likely provide important clues about responders and non-responders. The current interest in personalizing health stems from the breakthroughs emerging in integrative technologies of genomics and epigenomics and the identification of genetic and epigentic diversity in individual's genetic make-up that are associated with variations in many aspects of health, including diet-related diseases. Microarray is a powerful screen system that is being also currently employed in nutritional research. Monitoring of gene expression at genome level is now possible with this technology, which allows the simultaneous assessment of the transcription of tens of thousands of genes and of their relative expression of pathological cells such tumor cells compared with that of normal cells. Epigenetic events such as DNA methylation can result in change of gene expression without involving changes in gene sequence. Recent developed technology of DNAarray-based methylation assay will facilitate wide study of epigenetic process in nutrigenomics. Some of the areas that would benefitfrom these technologies include identifying molecular targets (Biomarkers) for the risk and benefit assessment. These characterized biomarkers can reflect expose, response, and susceptibility to foods and their components. Furthermore the identified new biomarker perhaps can be utilized as a indicator of delivery system fur optimizing health.

  • PDF

A case of Bronchial Web (천식증상을 동반한 기관지 Web 1예)

  • Bae, Si-Hyun;Kim, Chi-Hong;Kim, Young-Kyoon;Kwon, Soon-Seog;Kim, Kwan-Hyoung;Han, Ki-Don;Moon, Hwa-Sik;Song, Jeong-Sup;Park, Sung-Hak
    • Tuberculosis and Respiratory Diseases
    • /
    • v.39 no.2
    • /
    • pp.176-179
    • /
    • 1992
  • Bronchial webs are rare lesions which often go unrecognized. A 36-year-old female was admitted to our hospital for recurrent cough and dyspnea. A diagnosis of bronchial asthma was made and she was treated with conventional therapy. She did not respond to drug therapy. On the physical examination, there was localized wheezing on the left lung field. By the bronchogram, we found a membrane-like structure in the left main bronchus. A bronchoplasty was performed and now the patient leads her normal life without any medications for asthma.

  • PDF

Serum Alpha-Fetoprotein Levels in Health Checkup Adults (건강 검진자들의 혈청 Alpha-Fetoprotein 농도)

  • Kim, Yoohyun
    • Korean Journal of Clinical Laboratory Science
    • /
    • v.40 no.2
    • /
    • pp.86-93
    • /
    • 2008
  • This study was performed to investigation of the serum alpha-fetoprotein (AFP) levels in healthy adults. A total of 2,160 (male 1,415, female 745) health checkup adults were examined for AFP levels by chemiluminescence immunoassay (CLIA) method, during the period from September, 2007 to August, 2008. The mean serum AFP level was 2.168 (0.605~20.35) ng/mL, and it was 2.309 (0.605~20.35) ng/mL in male, 1.906 (0.605~10.36) ng/mL in female, respectively. 1,816 (male 1,109, female 709) healthy adults were screened for the absence of viral hepatitis and normal alanine amino transferase (ALT) levels. The mean serum AFP level of healthy adult was 2.041 (0.605~7.83) ng/mL, and it was 2.181 (0.605~7.83) ng/mL in male, 1.822 (0.605~6.55) ng/mL in female, respectively. Serum AFP increased with age group, there was a higher level in male compared to female. These results suggests that the use of reference value of AFP in healthy adults in the Jeonbuk. With the reference value now defined, it becomes possible to compare levels in different populations.

  • PDF

Effects of Chronic Electrical Stimulation on Functional Recovery Following Laryngeal Reinnervation in the Rat (흰쥐에서 반회후두신경 손상 후 만성적 전기자극이 후두 기능 회복에 미치는 영향)

  • 김지연;조선희;한후재;박수경;신유리;정성민
    • Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
    • /
    • v.11 no.2
    • /
    • pp.172-177
    • /
    • 2000
  • Background and Objectives : Until now, various attempts have been made fir reinnervating paralyzed vocal cord. Nevertheless, the most cases did not produce satisfactory outcome due to occurrence of synkinesis of larynx secondary to misdirected axonal regeneration. Accordingly, the purpose of this investigation is to learn the effect of chronic electrical stimulation on regeneration of the recurrent laryngeal nerve. Material and Methods : Using 20 healthy male Sprague-Dawley rats(250-300g) with normal vocal functions, transections were made on their left recurrent laryngeal nerves and then primary anastomosis were performed under the operating microscope and they were divided into an experimental group and a control group each having 10 rats. After the procedure, for the experimental group, chronic electrical stimulation was carried out until vocal cord movement was functionally recovered. for the control group, only chronic electrical stimulation was not given. Result : In experimental group, the number of functionally recovered rats was two and in control group, that of functionally recovered rate was same. The reorganization of posterior cricoarytenoid muscle motoneuron in nucleus ambiguus appeared in the case of directed reinnervation of recurrent laryngeal nerve. Conclusion : The chronic electrical stimulation does not a direct beneficial effect on the early functional recovery in rats with injured recurrent laryngeal nerve.

  • PDF

A Case of Epidermal Dysplasia in West Highland White Terrier (West Highland White Terrier종에서 발생한 표피형성이상 (Epidermal Dysplasia)의 진단과 치료 증례)

  • 박성준
    • Journal of Veterinary Clinics
    • /
    • v.21 no.2
    • /
    • pp.209-213
    • /
    • 2004
  • A 8 kg, 3-year-old male West Highland white terrier dog with a 1.5-year history of chronic, severely pruritic, seborrheic skin disorder was referred to the Veterinary Medical Teaching Hospital of the Tokyo University of Agriculture and Technology. On physical examination, lesions were observed on entire cutaneous surface, except for face, dorsum of body, and footpads. Skin lesions were characterized by diffuse erythema, erythematous papules, severe alopecia, hyperpigmentation, and lichenification. Tape strip tests of skin lesions revealed cocci and Malassezia infections. The intradermal allergy tests revealed positive reactions to Japanese cedar pollen, but the non-seasonal clinical signs were not compatible with atopic dermatitis caused by this pollen. Results of hematological examination, serum chemistry and thyroid gland profile were normal. Examination of skin biopsy exhibited hyperplastic superficial perivascular dermatosis with severe acanthosis, excessive keratinocyte mitoses, patchy or diffuse mild spongiosis, and lymphocytic exocytosis in epidermis. Perivascular to interstitial mononuclear cells infiltration was seen in the superficial dermis. Based on the results of examination described above, epidermal dysplasia was diagnosed. Treatments with administration of antibiotics, etretinate, and prednisolone orally combined with topical ketoconazole cream and antiseborreic shampoos had no good results. Following treatment with long-term oral itraconazole at 10 mg/kg daily and chlorhexidine shampoos was successful. However, when itraconazole therapy was stopped, the condition worsened twice within 2 or 3 months. Readministration of itraconazole produced improvement within 4 weeks. This dog has now been controlled periodical itraconazole therapy.

Objective Measures of Voice Production in Telephone Operators (교환수들의 음성발성에 대한 평가)

  • 진성민
    • Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
    • /
    • v.8 no.1
    • /
    • pp.38-43
    • /
    • 1997
  • Backgroud : Now a days, most studies for professional voice user have been performed after artificial voice abuse without consideration of environmental and personal factors, and occupational specificity, therefore those studies have some problems. Objectives : To make a basic guideline for the management of untrained professional voice user, practically we ananalyzed the voice of experimental group. Materials and methods : Just after working, the sustained vowel sounds of the 15 female telephone operators (subjective group) and the 20 normal female persons (control group) were analysed, using a history paper, acoustic analyzer and videostroboscopy. Results : The most common symptom in subjective group was dysphonia. Stroboscopic findings in subjective group were as following ; posterior chink 11 cases (73%), incomplete closure 2 cases (13%), anterior chink 1 case (7%). The mean maximal phonation time in telephone operators was 12.8 seconds and in control group was 16.8 seconds. Jitter, pitch pertubation quotient (PPQ), shimmer and amplitude pertubation quotient (ASQ) were significantly increased in subjective group than control group, but there is no difference between two group in fundamental frequency and noise to harmonic ratio. Conclusion : Untrained professional voice user needs professional career guidance and counseling. And when we manage the untrained professional voice user, we should consider specific occupational, personal and environmental factors as well as laryngeal factors.

  • PDF