• Title/Summary/Keyword: Hypertrophic

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Genetic Variations Leading to Familial Dilated Cardiomyopathy

  • Cho, Kae Won;Lee, Jongsung;Kim, Youngjo
    • Molecules and Cells
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    • v.39 no.10
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    • pp.722-727
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    • 2016
  • Cardiomyopathy is a major cause of death worldwide. Based on pathohistological abnormalities and clinical manifestation, cardiomyopathies are categorized into several groups: hypertrophic, dilated, restricted, arrhythmogenic right ventricular, and unclassified. Dilated cardiomyopathy, which is characterized by dilation of the left ventricle and systolic dysfunction, is the most severe and prevalent form of cardiomyopathy and usually requires heart transplantation. Its etiology remains unclear. Recent genetic studies of single gene mutations have provided significant insights into the complex processes of cardiac dysfunction. To date, over 40 genes have been demonstrated to contribute to dilated cardiomyopathy. With advances in genetic screening techniques, novel genes associated with this disease are continuously being identified. The respective gene products can be classified into several functional groups such as sarcomere proteins, structural proteins, ion channels, and nuclear envelope proteins. Nuclear envelope proteins are emerging as potential molecular targets in dilated cardiomyopathy. Because they are not directly associated with contractile force generation and transmission, the molecular pathways through which these proteins cause cardiac muscle disorder remain unclear. However, nuclear envelope proteins are involved in many essential cellular processes. Therefore, integrating apparently distinct cellular processes is of great interest in elucidating the etiology of dilated cardiomyopathy. In this mini review, we summarize the genetic factors associated with dilated cardiomyopathy and discuss their cellular functions.

Histological and histochemical study on the growth plate of the axis in developing Miniature Schnauzers (성장중인 소형개 (Miniature Schnauzers)에 있어서 축추골의 골성장판에 대한 조직학적, 조직화학적 연구)

  • Kim, Soo-myung
    • Korean Journal of Veterinary Research
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    • v.33 no.2
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    • pp.189-198
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    • 1993
  • The present study was undertaken to provide basic data on endochondral ossification for the axis in developing Miniature Schnauzers. This study was determined to the morphological features and development of growth plast in the axis of this experimental animals by histological and histochemical methods. The axis from 2 healthy Miniature Schnauzers(postnatal 6hr, 5week) was used. The obtained results were as follows : 1. In 5-week-old Miniature Schnauzer, the axis consisted of 4 separate ossification centers : centrum l, intercentrum 2, centrum 2 and epiphysis. Intercentrum 2 was intercalated between centrum 1 cranially, centrum 2 caudally. 2. The space of centrum 1 was more broader than the other ossification centers. 3. The zone of reserved chondrocytes was more extensive than the zone of proliferative chondrocytes, trabeculation was weakly observed, however, the proximal epiphyseal plate of axis was actively trabeculation observed in the zone of calcified chondrocytes. 4. Eighteen columns of chondrocytes were observed in the centrum 1 and five to seven columns of chondrocytes were observed in the centrum 2 of Miniature Schnauzer(postnatal 5 week) 5. A positive reaction to alcianophility was observed in all the territorial matrix at the zone of hypertrophic chondrocytes in this experimental animals.

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A Rare Case of Auricular Endochondral Pseudocyst (이개연골에 발생한 가성낭종 1예)

  • Joo, Jae Doo;Kang, Dong Hee;Kim, Hyonsurk
    • Korean Journal of Head & Neck Oncology
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    • v.34 no.1
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    • pp.55-58
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    • 2018
  • Auricular endochondral pseudocyst is a very rare, benign intracartilaginous cystic lesion which most commonly presents as a cystic mass in the anterior plane of the auricle. We present a case report of a 48-year-old man with a fluctuating lesion of 3 week's duration on the left auricle, with no specific history of trauma or disease. Initial incisional drainage revealed an abundance of serous fluid, which quickly recurred. Surgical removal of the hypertrophic perichondrium forming the pseudocyst anterior wall and ear cartilage curettage was carried out with intraoperative absolute alcohol sclerotherapy, followed by compression dressings. The auricle healed uneventfully, with a good final cosmetic result and no recurrence within a 6-month follow-up period. We report this unusual case as the first in Korean plastic surgery with a review of the literature.

A Case of Clinical Improvement after Enzyme Replacement Therapy in Pompe Disease (효소 보충 치료로 호전을 보인 Pompe병 1례)

  • Jeon, You Hoon;Eun, Baik Lin;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.5 no.1
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    • pp.18-22
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    • 2005
  • Pompe disease is a genetic disorder caused by a deficiency of acid ${\alpha}$-glucosidase (GAA). This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle cells the most seriously affected. Infantile-onset Pompe disease is uniformly lethal. Affected infants present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, followed by death from cardiorespiratory failure or respiratory infection, usually by 1 year of age. Late-onset forms is characterized by a lack of severe cardiac involvement and a less severe short-term prognosis. Enzyme replacement therapy for Pompe disease is intended to address directly the underlying metabolic defect via intravenous infusions of recombinant human GAA to provide the missing enzyme. We experienced one case of Pompe disease in 3-years old boy that has improved his exercise ability and cardiac function after GAA enzyme replacement therapy.

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Submental intubation: alternative short-term airway management in maxillofacial trauma

  • Kumar, Ravi Raja;Vyloppilli, Suresh;Sayd, Shermil;Thangavelu, Annamala;Joseph, Benny;Ahsan, Auswaf
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.42 no.3
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    • pp.151-156
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    • 2016
  • Objectives: To assess submental route intubation as an alternative technique to a tracheostomy in the management of the airway in cranio-maxillofacial trauma, along with an assessment of its morbidity and complications. Materials and Methods: Submental intubation was performed in 17 patients who had maxillofacial panfacial trauma and management was done under general anesthesia during a period of one year from 2013 to 2014 at Departments of Oral and Maxillofacial Surgery and Dentistry, the Malankara Orthodox Syrian Church Medical College, Kochi, India. Results: In all 17 cases, the technique of submental intubation was found to be simple and reliable. Hypertrophic scars were noted in three cases, orocutaneous fistula and mucocele in one case each. All these complications were managed comfortably without significant morbidity to the patient. Conclusion: Submental intubation is a good technique that can be used regularly in the management of the airway in cranio-maxillofacial trauma, but with some manageable complications.

Uterine Adenomyosis in a Cat (고양이의 자궁샘근육증)

  • Hur, Hyung-Moon;Jung, Ji-Youl;Kang, Sang-Chul;Park, Dae-Sik;Bae, Jong-Hee;Kim, Jae-Hoon
    • Journal of Veterinary Clinics
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    • v.25 no.1
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    • pp.19-22
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    • 2008
  • Adenomyosis is a nonneoplastic proliforation of uterine glands characterized by multicentric infiltration of endometrial tissues into the myometrium. A female domestic short hair cat with unknown age was referred to local animal hospital in Busan for ovariohysterectomy to prevent the unwanted offspring. At the time of surgery, the uterus was enlarged with multiple nodular protrusion on the serosa. On the cut surface of uterus, elevation of the endometrium and hypertrophied myometrium were observed. Microscopically, the uterus was characterized by severe proliforation of endometrial glands into the lumen and within the myometrium. The intra-myometrial endometrium is circumferentially surrounded by bundles of hypertrophic smooth muscle cells. These endometrial glands had tall columnar epithelium lacking nuclear atypia and mitoses. In our best knowledge, this is the first report of feline adenomyosis in Korea.

Comparison of Medical Compression Garments by Manufacturing Country (의료용 화상환자 압박복의 제조 국가별 비교)

  • Cho, Shin-Hyun
    • Journal of the Korea Fashion and Costume Design Association
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    • v.17 no.4
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    • pp.31-39
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    • 2015
  • A special medical compression garment has been developed to be worn after surgery or treatment using an elastic fiber in which the amount of compression can be adjusted to a specified targeted area to reduce the formation of hypertrophic scarring. In order to develop this medical compression garments, specialized technical skill in fiber, compression class and body measurements are needed. This study provides product survey data for the development of medical compression garments. An investigation analyzed medical compression garments of 16 brands from 6 countries sold in the Korean market & online, such as Make Me Heal, Jobst, Bio Concepts, Design Veronique$^{(R)}$ Nouvelle and Leonisa$^{(R)}$ (USA), Respire(Germany), Malcom$^{(R)}$, Holistic garments and Jobskin(UK), Technomed, kanav Healthcare and Sindhoori surgicals(India), Soo medical and C&C medical(Korea), Secondskin(Australia). The main fibers of compression garments were nylon and spandex: in addition, the fiber content was different by country and brand. The number of compression classes of products was USA(4), UK(4), and India(4). For body measurements, USA and many brands used (bust, under bust, waist, hip, thigh, knee, calf, ankle, upper arm, elbow, wrist, armhole bicep) circumference and length.

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EXPERIMENTAL STUDY OF THE EFFECTS ON THE GROWTH OF MANDIBULAR CONDYLE FOLLOWING CYCLOPHOSPHAMIDE ADMINISTRATION IN RAT (Cyclophosphamide가 백서하악과두의 성장에 미치는 영향에 관한 실험적 연구)

  • Rhee, Byung Tae
    • The korean journal of orthodontics
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    • v.12 no.1
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    • pp.7-14
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    • 1982
  • In this study, effects of cyclophosphamide on the growth of the mandibular condyle head were investigated with Spraque-Dawley rats of the 28 days of age. Rats were devided into four groups. Three were used as experimental groups, and one as control. Each rat in experimental group was injected intraperitoneally with cyclophosphamide repeatedly three times, 20mg/kg for the first group, 40mg/kg for the second, and 60mg/kg for the third each time. Rats in control group were injected with physiological saline in the same method. Rats in each group were sacrificed at 5, 10, and 15 days following the last injection. The specimens were stained with H-E, toluidine blue, PAS, and alcian blue. The results were as follows; 1. In experimental group, with increasing the injection doses, the thickness of the condylar cartilage from the transitional zone to the hypertrophic zone became thinner than in control group. 2. Weaker metachromasia to toluidine blue and less positive reaction to PAS were seen. 3. In primary marrow cavity the fewer trabecular was formed, The direction of trabecular formation became obscuerer, and the lower density of bone was resulted in.

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A DIOGRAPHIC STUDY OF THE CONDYLAR HYPERPLASIA (하악 과두 과형성증에 관한 방사선학적 연구)

  • Kim Jin-Soo;Kim Young-Jin;Choi Eui-Hwan;Kim Jae-Duk
    • Journal of Korean Academy of Oral and Maxillofacial Radiology
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    • v.25 no.2
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    • pp.569-578
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    • 1995
  • Condylar hyperplasia is a self-limiting condition characterized by a slowly progressing, enlargement of the mandible that results in facial asymmetry and a crossbite malocclusion. The facial asymmetry, open bite or crossbite, and radiographic evidence of an enlarged condyle confirm the diagnosis of condylar hyperplasia. The etiology of the condition is unknown. This condition usually first becomes apparent during the second decade of life, when one condyle continues to grow while the other is no longer active. Radiographically, the condyle may appear enlarged or the neck of the condyle maybe elongated or both may occur, Sometimes, however, no radiographically demonstrable condylar abnormality will be noted. Surgical correction with subcondylar osteotomy is the treatment of choice. We have observed two cases of condylar hyperplasia occurred in the left mandibular condyle of 24-year-old and 35-year-old women. We obtained that two cases were shown the followed results; 1. Clinically, both cases was unilaterally developed on C/C area, with temporomandibular disorders and pain, facial asymetry and malocclusion. 2. Radiographically, hyperplastic mass confined to the condyle. 3. Histopathologically, these cases shown increased hypertrophic region in parts, and lamellated bone with irregular trabeculae.

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Temporomandibular joint synovial chondromatosis accompanying temporal bone proliferation: A case report

  • Kim, Hak-Sun;Lee, Wonae;Choi, Jin-Woo;Han, Won-Jeong;Kim, Eun-Kyung
    • Imaging Science in Dentistry
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    • v.48 no.2
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    • pp.147-152
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    • 2018
  • Synovial chondromatosis is a rare metaplastic disease affecting the joints, including the temporomandibular joint (TMJ). Since its symptoms are similar to those of temporomandibular disorders, a careful differential diagnosis is essential. A 50-year-old male patient was referred with the chief complaint of pain and radiopaque masses around the left TMJ on panoramic radiography. Clinically, pre-auricular swelling and resting pain was found, without limitation of mouth opening. On cone-beam computed tomographic images, multiple calcified nodules adjacent to the TMJ and bone proliferation with sclerosis at the articular fossa and eminence were found. T2-weighted magnetic resonance images showed multiple signal-void nodules with high signal effusion in the superior joint space and thickened cortical bone at the articular fossa and eminence. The calcified nodules were removed by surgical excision, but the hypertrophic articular fossa and eminence remained. A histopathological examination confirmed the diagnosis. The patient was followed up few months later without recurrence.