• Title/Summary/Keyword: Muscular diseases

Search Result 136, Processing Time 0.027 seconds

Mechanisms of Myotonic Dystrophies 1 and 2

  • Lubov, Timchenko
    • The Korean Journal of Physiology and Pharmacology
    • /
    • v.9 no.1
    • /
    • pp.1-8
    • /
    • 2005
  • Myotonic Dystrophies type 1 and 2 (DM1/2) are neuromuscular disorders which belong to a group of genetic diseases caused by unstable CTG triplet repeat (DM1) and CCTG tetranucleotide repeat (DM2) expansions. In DM1, CTG repeats are located within the 3' untranslated region of myotonin protein kinase (DMPK) gene on chromosome 19q. DM2 is caused by expansion of CCTG repeats located in the first intron of a gene coding for zinc finger factor 9 on chromosome 3q. The CTG and CCTG expansions are located in untranslated regions and are expressed as pre-mRNAs in nuclei (DM1 and DM2) and as mRNA in cytoplasm (DM1). Investigations of molecular alterations in DM1 discovered a new molecular mechanism responsible for this disease. Expansion of un-translated CUG repeats in the mutant DMPK mRNA disrupts biological functions of two CUG-binding proteins, CUGBP and MNBL. These proteins regulate translation and splicing of mRNAs coding for proteins which play a key role in skeletal muscle function. Expansion of CUG repeats alters these two stages of RNA metabolism in DM1 by titrating CUGBP1 and MNBL into mutant DMPK mRNA-protein complexes. Mouse models, in which levels of CUGBP1 and MNBL were modulated to mimic DM1, showed several symptoms of DM1 disease including muscular dystrophy, cataracts and myotonia. Mis-regulated levels of CUGBP1 in newborn mice cause a delay of muscle development mimicking muscle symptoms of congenital form of DM1 disease. Since expansion of CCTG repeats in DM2 is also located in untranslated region, it is predicted that DM2 mechanisms might be similar to those observed in DM1. However, differences in clinical phenotypes of DM1 and DM2 suggest some specific features in molecular pathways in both diseases. Recent publications suggest that number of pathways affected by RNA CUG and CCUG repeats could be larger than initially thought. Detailed studies of these pathways will help in developing therapy for patients affected with DM1 and DM2.

Effect of Chronic Foot Disease to Bone Mineral Density of the Affected Lower Limb (만성 족부 질환이 환측 하지의 골밀도에 미치는 영향)

  • Chu, In-Tak;Yoo, Jong-Min;Kang, Min-Gu;Chung, Jin-Wha
    • Journal of Korean Foot and Ankle Society
    • /
    • v.14 no.2
    • /
    • pp.165-168
    • /
    • 2010
  • Purpose: Pain or discomfort caused by foot diseases may lead to abnormal gait, resulting in decreased bone mineral density (BMD) of the affected lower limb. We analyzed the effect of foot affection to BMD and its clinical significance. Materials and Methods: Bilateral hip BMD was evaluated in 93 patients with unilateral chronic foot disease. To minimize statistical errors, we excluded patients with medical histories that had influence on BMD. Analysis was based on the results of BMD tests at the first visit. All patients denied past medical intervention for osteoporosis. The difference in density between bilateral limbs was determined by comparing BMDs of the neck, upper neck, trochanter and total area of hip. Results: Test results revealed the decrease of BMD in the lower limb with the affected foot, compared to the unaffected side. This decrease was significant in the area of the trochanter (p <0.05). There was no marked difference of BMD in relation with duration of affection, underlying disease or age. Pertaining the location of foot affection, the hindfoot group showed significant decrease in BMD compared to the forefoot group. The group with affection in bone and joint also showed a marked decrease in BMD compared to the soft tissue group (p <0.05). Conclusion: Pain and discomfort caused by chronic foot diseases can lead to a decrease in the BMD of the affected lower limb. This may increase the risk of complications such as osteoporotic fracture and muscular atrophy.

Role of IL-15 in Sepsis-Induced Skeletal Muscle Atrophy and Proteolysis

  • Kim, Ho Cheol;Cho, Hee-Young;Hah, Young-Sool
    • Tuberculosis and Respiratory Diseases
    • /
    • v.73 no.6
    • /
    • pp.312-319
    • /
    • 2012
  • Background: Muscle wasting in sepsis is associated with increased proteolysis. Interleukin-15 (IL-15) has been characterized as an anabolic factor for skeletal muscles. Our study aims to investigate the role of IL-15 in sepsis-induced muscle atrophy and proteolysis. Methods: Mice were rendered septic either by cecal ligation and puncture or by intraperitoneal injection of lipopolysaccharide (LPS, 10 mg/kg i.p.). Expression of IL-15 mRNA and protein was determined by reverse transcriptase polymerase chain reaction and Western blot analysis in the control and septic limb muscles. C2C12 skeletal muscle cells were stimulated in vitro with either LPS or dexamethasone in the presence and absence of IL-15 and sampled at different time intervals (24, 48, or 72 hours). IL-15 ($10{\mu}g/kg$) was intraperitoneally administered 6 hours before sepsis induction and limb muscles were sampled after 24 hours of sepsis. Cathepsin L activity was determined to measure muscle proteolysis. Atrogin-1 and muscle-specific ring finger protein 1 (MuRF1) expressions in limb muscle protein lysates was analyzed. Results: IL-15 mRNA expression was significantly lower in the limb muscles of septic mice compared to that of controls. Cathepsin L activity in C2C12 cells was significantly lower in presence of IL-15, when compared to that observed with individual treatments of LPS or dexamethasone or tumor necrosis factor ${\alpha}$. Further, the limb muscles of mice pre-treated with IL-15 prior to sepsis induction showed a lower expression of atrogin-1 and MuRF1 than those not pre-treated. Conclusion: IL-15 may play a role in protection against sepsis-induced muscle wasting; thereby, serving as a potential therapeutic target for sepsis-induced skeletal muscle wasting and proteolysis.

Larval Gnathostoma hispidum detected in the red banded odd-tooth snake, Dinodon rufozonatum rufozonatum, from China

  • Cho, Shin-Hyeong;Kim, Tong-Soo;Kong, Yoon;Na, Byoung-Kuk;Sohn, Woon-Mok
    • Parasites, Hosts and Diseases
    • /
    • v.45 no.3
    • /
    • pp.191-198
    • /
    • 2007
  • A total of 205 larval gnathostomes were collected from 18 (22.5%) of 80 red banded odd-tooth snakes, Dinodon rufozonatum rufozonatum, which had been smuggled from China and confiscated at Customs in Susan, Republic of Korea. In order to identify the species, some of the larvae were observed by a light microscope and a scanning electron microscope (SEM). The larvae were $2.18{\times}0.29mm$ in average size, and had a pair of lips at the anterior end, a muscular esophagus, 2 pairs of cervical sacs, and brownish intestines. The head bulb was characteristically equipped with 4 rows of hooklets; the average number of hooklets in each respective row was 38.6, 40.5, 41.5, and 43.7. In SEM views, the mouth evidenced a pair of lateral lips of equal size in a half-moon shape. Each lip featured a couple of labial papillae and a small amphid located between the 2 papillae. The hooklets on the head bulb had single-pointed, posteriorly-curved tips. The cuticular spines were larger and more densely distributed on the anterior part of the body, and decreased gradually in size and number toward the posterior body. On the basis of these morphological characteristics, the larvae were identified as the third stage larvae of Gnathostoma hispidum.

Acute kidney injury in pediatric patients with rhabdomyolysis

  • Lim, Young Shin;Cho, Heeyeon;Lee, Sang Taek;Lee, Yeonhee
    • Clinical and Experimental Pediatrics
    • /
    • v.61 no.3
    • /
    • pp.95-100
    • /
    • 2018
  • Purpose: This study aimed to evaluate the clinical findings in pediatric rhabdomyolysis and the predictive factors for acute kidney injury (AKI) in Korean children. Methods: Medical records of 39 Korean children, who were newly diagnosed with rhabdomyolysis from January 2008 to December 2015, were retrospectively analyzed. The diagnosis was made from the medical history, elevated serum creatinine kinase level >1,000 IU/L, and plasma myoglobin level >150 ng/mL. Patients with muscular dystrophy and myocardial infarction were excluded. Results: The median patient age at diagnosis was 14.0 years (range, 3-18 years), and the male to female ratio was 2.5. The most common presenting symptom was myalgia (n=25, 64.1%), and 14 patients (35.9%) had rhabdomyolysis-induced AKI. Eighteen patients (46.2%) had underlying diseases, such as epilepsy and psychotic disorders. Ten of these patients showed rhabdomyolysis-induced AKI. The common causes of rhabdomyolysis were infection (n=12, 30.7%), exercise (n=9, 23.1%), and trauma (n=8, 20.5%). There was no difference in the distribution of etiology between AKI and non-AKI groups. Five patients in the AKI group showed complete recovery of renal function after stopping renal replacement therapy. The median length of hospitalization was 7.0 days, and no mortality was reported. Compared with the non-AKI group, the AKI group showed higher levels of peak creatinine kinase and myoglobin, without statistical significance. Conclusion: The clinical characteristics of pediatric rhabdomyolysis differ from those observed in adult patients. Children with underlying diseases are more vulnerable to rhabdomyolysis-induced AKI. AKI more likely develops in the presence of a high degree of albuminuria.

Lower Extremity Muscle Activity on the Obstacle Gait in Older Parkinson Diseases (파킨슨 환자들의 장애물 보행 향상을 위한 하지의 근육 활동 규명)

  • Lim, Bee-Oh;Kim, Mi-Young
    • Korean Journal of Applied Biomechanics
    • /
    • v.17 no.4
    • /
    • pp.141-148
    • /
    • 2007
  • Falls associated with tripping over an obstacle can be dangerous, yet little is known about the strategies used for stepping over obstacles in older Parkinson disease. The purpose of this study was to investigate the lower extremity muscle activity on the obstacle gait according to obstacle height in older Parkinson diseases. The obstacle gait of 7 older Parkinson disease was examined during a 5.0 m approach to, and while stepping over, obstacles of 0, 25, 52, and 152mm. Seven pairs of surface electrodes(Noraxon MyoResearch, USA) were attached to the right-hand side of the body to monitor the adductor longus(AL), gluteus medius(GME), gluteus maximus(GMA), biceps femoris(BF), rectus femoris(RF), gastrocnemius(GA), tibialis anterior(TA). Electromyography data were filtered using a 10Hz to 350 Hz Butterworth band-pass digital filter and normalized to the maximum value in the analyzed phases. A one-way ANOVA for repeated measures was employed for selected electromyography variables to analyze the differences of the height of four obstacles. The results showed significant differences between 0.0mm and 25, 52, and 152mm obstacle height in TA and GA activities during the second phase(swing phase). But the more increase obstacle height, the more not increase the muscle activities. This means that the Parkinson disease stepping over obstacle inefficiency. To prevent and reduce the frequency of falls, elderly Parkinson disease maintained and improved their balance, muscular strength, neuromuscular control and mobility.

A Study on Safety Management for Aging Society (고령화시대를 대비한 안전관리대책 -부산지역을 대상으로-)

  • Chang, Seong-Rok;Kim, Eun-A
    • Journal of the Korean Society of Safety
    • /
    • v.17 no.4
    • /
    • pp.184-188
    • /
    • 2002
  • According to a recent report, Korea first reached aging society in 2000 and it is forecasted that the number of aged people over 65 years old will increase form 7.13%(2000) to 14% or more of total population in Korea in 2022. As many aged peoples are employed as day labor under the financial circumstances after Korean Financial Crisis, it is critical that we should take safety control measures for them. Thus, this study focused on analyzing aged accidents in terms of their characteristics, based on the actual trend of industrial accidents from 1996 to 2001 and the applications of medical treatment for the affected or wounded in Busan metropolitan area for recent 3 years (1999 to 2001) in order to analyze accident characteristics to cope with emergent aging period. As a result of analyzing the above data by job type, it was found that the construction work amounted to 38% of total job type. This result implies that accidents of the aged often occurs in 3D jobs including construction works without reasonable automation, which requires us to establish some preventive policies against those accidents. Moreover, it is found that rapid increasing accidents such as upset or occupational diseases or damages are typically attributed to those in the aged, mainly because the aged employees over 55 years old often have disadvantageous physical conditions such as relatively degraded balance and muscular control ability comparing to the younger. Therefore, it recommended that we should make effective safety policies for the aged and actively apply those policies to them. Moreover, it is required that we should encourage them to actively participate in safety compliance through corresponding trainings.

The effects of nasal breathing due to pediatric allergic rhinitis on dentofacial growth and its dental considerations (소아 알레르기 비염으로 인한 구호흡이 악안면 성장에 미치는 영향과 이에 대한 치과적 고려사항)

  • Ong, Seung-Hwan;Yoo, Seung-Hoon
    • The Journal of the Korean dental association
    • /
    • v.58 no.9
    • /
    • pp.546-555
    • /
    • 2020
  • Allergic rhinitis is a specific IgE mediated inflammatory disease of the nasal mucosa, characterized by symptoms such as rhinorrhea, nasal congestion, nasal obstruction, nasal and eye itching, and sneezing. The prevalence of allergic rhinitis varies according to country, age, and surveying methods, but it seems to increase worldwide, also in Korea. Prolonged mouth breathing caused by allergic rhinitis can produce muscular and postural alterations, causing alterations on the morphology, position, growth direction of the jaws, and malocclusion. Also, mouth breathing leads to dryness of the mouth, causing various oral diseases; gingivitis, halitosis, inflammation of tonsil, increased risk of dental caries and dental erosion. In dental clinic, using rapid maxillary expansion to persistent allergic rhinitis patients with narrow maxilla can enlarge maxillary dental arch and nasal cavity anatomy, improving nasal breathing and reducing nasal cavity resistance. However, it is desirable to use along with otolaryngologic treatment. Dentists should be aware of the characteristics of allergic rhinitis and its effects on patients, and consider when planning dental treatment.

  • PDF

Experimental Studies on the Efficacy of Socheongryoung-tang (小靑龍湯의 效能에 關한 實驗的 硏究)

  • An, Cheol
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
    • /
    • v.1 no.1
    • /
    • pp.25-38
    • /
    • 1988
  • In order to evaluate the relationship between the bibliographical and clinical effectiveness of Socheongryoungtang, this study was carried out to investigate the effects of Socheongryoungtang on the respiratory system, cardiovascular system and isolated organ in the experimental animals. The following results of Socheongryoungtang were obtained; 1. The relaxing effect on the muscular contraction of isolated ileum induced by acetylcholine chloride, barium chloride and histamine${\cdot}$2HCl was recognized in mice, rat and guinea-pig. 2. The effect of direct vasodilatation was noted in rabbit. 3. The effect of hypotensor was recognized in rabbit. 4. The antihistamine effect was noted on both isolated ileum and tracheal strip-chain in guinea-pig. 5. The inhibitory effect on gastric ulcer induced by histamine${\cdot}$2HCl was noted in rat. 6. The inhibitory effect on vascular permeability was revealed in mice. 7. The antitussive effect was recognized in both dog and cat. 8. The effect of expectorant was recognized in rabbit. According to the above results, we has recognized that Socheongryoungtang has good efficacy for bibliographical and clinical diseases caused from respiratory system (especially allergic rhinitis etc.), cardiovascular system and digestive system.

  • PDF

A Case of Hutch's Diverticulum Associated with Severe Bilateral Vesicoureteral Reflux (심한 방광 요관 역류를 동반한 양측성 Hutch's Diverticulum 1례)

  • Shin Jong-Su;Jeon Yu-Sik;Ra Chang-Soo;Jeong Gun-Young;Yeum Gyu-Young
    • Childhood Kidney Diseases
    • /
    • v.2 no.1
    • /
    • pp.86-89
    • /
    • 1998
  • A bladder diverticulum occurs when the bladder mucosa herniates or protrudes through the muscular wall of the baldder. The majority of congenital bladder diverticula occurs in males. They are the most common in the region of the bladder base, most frequently in the region of the ureteral hiatus, in which case they are known as Hutch's diverticula. They can give rise to obstruction or reflux. We had experienced a case of bilateral Hutch's diverticulum associated with vesicoureterai reflux in a 23 month old male. Chief complaints were urinary frequency and dysuria. Voiding cystourogram and CT scan revealed large bilateral Hutch's diverticulum with bilateral vesiciureteral reflux grade VI. There was evidence of urinary infection. This patient was successfully treated by ureteroneocystostomy. We report this case with a brief review of related literatures.

  • PDF