• Title/Summary/Keyword: Small thorax

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Traumatic Diaphragmatic Injuries - A report of 23 cases - (외상성 횡격막 손상: 23례 보고)

  • 최세영
    • Journal of Chest Surgery
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    • v.24 no.2
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    • pp.197-201
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    • 1991
  • Twenty-three patients with traumatic diaphragmatic injuries treated at the Department of Thoracic and Cardiovascular Surgery, Keimyung University Dongsan Medical Center from Aug. 1978 to Nov. 1990 were reviewed. There were 19 male and 4 female patients. The age distribution was ranged from 1.5 to 72 years, with a mean age of 34.3 years. Sixteen patients had blunt trauma[traffic accident 14, fall down 2], and 7 had penetrating injuries[stab wound 6, broken glass 1]. Sixteen [70 percent]of the injuries occurred on the left side and 7[30 percent] on the right side. Fifteen patients were operated on during the acute phase, 5 patients during the latent phase, 2 patients during the obstructive phase. The surgical approach in 20 patients was through a thoracotomy; in 2 patients, a thoracoabdominal incision was necessary, and in 1 patient, a laparotomy was performed. Herniated organs in thorax included stomach[10], colon[5], small bowel[5], spleen[4], liver[2]. Postoperative complications included wound infection, empyema, pneumonia, hepatitis and respiratory failure. There were 3 postoperative deaths, 2 with cerebral dysfunction and 1 with sepsis.

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A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type) (Holoprosencephaly를 동반한 21-Monosomy 1례)

  • Lee, So Young;Cho, Sung Min
    • Clinical and Experimental Pediatrics
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    • v.46 no.8
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    • pp.831-835
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    • 2003
  • Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type) associated with pure monosomy 21. We experienced a semilobar type holoprosencephaly with monosomy 21 in a neonate who had multiple congenital anomalies, including an abnormal face, a small thorax with widely spaced hypoplastic nipples and nail hypoplasia, lung hypoplasia with severe scoliosis and cardiac abnormalities. Chromosomal analysis revealed a 45, XY, -21.

A case of thanatophoric dysplasia type I with an R248C mutation in the $FGFR3$ gene

  • Noe, Eun-Jung;Yoo, Han-Wook;Kim, Kwang-Nam;Lee, So-Yeon
    • Clinical and Experimental Pediatrics
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    • v.53 no.12
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    • pp.1022-1025
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    • 2010
  • Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the $FGFR3$ gene. We confirmed by detection of a R248C mutation in the $FGFR3$ gene in DNA analysis.

Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

  • Lee, Dohwan;Jang, Ja-Hyun;Lee, Cha Gon
    • Journal of Genetic Medicine
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    • v.16 no.1
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    • pp.27-30
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    • 2019
  • Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

Three New Species of Krenosmittia (Diptera: Chironomidae: Orthocladiinae) Found in Korea

  • Ree, Han-il;Kang, Hyo Jeong
    • Animal Systematics, Evolution and Diversity
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    • v.37 no.1
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    • pp.64-69
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    • 2021
  • The genus Krenosmittia is a small group of Orthocladiinae, containing a total of twenty species in the world. Among them, six species were found in Japan, four species in China, and five species from the Russian Far East. This genus can be distinguished from other Orthocladiinae genera by the eyes bare, absence of acrostichals on thorax, costa strongly extended, anal vein ending proximal to FCu, squama bare, and having a strongly developed virga. We report three new species: K. danyangensis n. sp., K. triangulia n. sp., and K. pseudoannulata. The genus Krenosmittia is the first record in Korea. Line drawings of the diagnostic characters are provided for all the species recognized in this study.

Four New Species of Parorthocladius (Diptera: Chironomidae: Orthocladiinae) Found in Korea

  • Ree, Han-il;Kang, Hyo Jeong
    • Animal Systematics, Evolution and Diversity
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    • v.37 no.1
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    • pp.70-77
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    • 2021
  • The genus Parorthocladius is a small group among the subfamily Orthocladiinae (Diptera: Chironomidae). A total of ten species of Parorthocladius have been recorded in the world, of which two species were found from Japan, three species from China, and three species from the Russian Far East. Only one species, P. nudipennis is widely distributed in Europe and the Russian Far East. This genus can be distinguished from other genera by the absence of acrostichals on the thorax, wing vein R4+5 ending proximal to the tip of vein M3+4, anal point parallel side, rounded apically. We report four new species of Parorthocladius collected in Korea and described them with illustrations. As a result, fourteen species of Parorthocladius have been recorded in the world.

The new classification for fatty-type gynecomastia (lipomastia) and 1000 cases review (지방형 여성형유방증에 대한 새로운 분류와 1000증례)

  • Yoon, Sang Yub;Kang, Min Gu
    • Archives of Plastic Surgery
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    • v.36 no.6
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    • pp.773-778
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    • 2009
  • Purpose: The authors propose the new classification of fatty - type gynecomastia(lipomastia) which can serve as a guide for modifying the periareolar technique. Methods: A retrospective analysis was made of 1000 cases of lipomastia operated on in the last 17 months. The extent of the clinical result, the technique employed, and the complications were observed. On the basis of this review the authors observed that at grade I(fat component < 50 ml, fibroglandular component < 3 g each breast), flattening of the thorax can be achieved by means of stab incision, ultrasound - assisted lipectomy(UAL), scavenging suction - assisted lipectomy(SAL) and tissue shaving. At grade II(50 < < 150 ml, 3 < < 5 g), stab incision, UAL, SAL and pull - out method(POM) using small curved scissors. At grade III(150 < < 300 ml, 5 < < 15 g and prominent inframammary fold(IMF)), minimal incision (5 - 6 mm), UAL, SAL and POM using small angulated scissors, and blunting IMF. At grade IV (300 < < 500 ml, 15 < < 30 g, and glandular ptosis), minimal incision (5 - 6 mm), UAL, SAL, fibroglandular excision using small angulated scissors, cutting IMF and fixation of nipple - areola complex(NAC) becomes necessary. At grade V (> 500 ml, > 30 g and ptosis), small incision (7 - 8 mm), UAL, SAL, fibroglandular excision using large angulated scissors, cutting IMF, upper repositioning of NAC and delayed circumareolar skin reduction or chest lifting becomes necessary. Results: The complications were minimal but there were hematoma (n = 7), infection (n = 3) and hypertrophic scar (n =13). Almost patients were satisfied with the outcome. Conclusion: This simple classification may help in choosing the most suitable treatment, thus avoiding insufficient or invasive treatments and undesirable scars.

A Case of Platyspondylic Lethal Skeletal Dysplasia Torrance Type

  • Lee, Sung Chan;Choi, Min Seon
    • Neonatal Medicine
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    • v.25 no.1
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    • pp.44-48
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    • 2018
  • Platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), is one of the pheno-types of type II collagenopathy and is characteristic of severe bone growth disorder. This phenotype may limit the growth and expansion of the lungs, which is known to cause death from respiratory failure during or shortly after birth, but in few less severe cases, patients have been reported to have survived to adulthood. We have experienced a case of PLSD-T in a preterm infant who was delivered via cesarean section at the gestational age of 29 weeks 3 days, with a birth weight of 1.15 kg. Physical examination of the infant revealed characteristic findings of short arms and legs, small thorax, distended abdomen, and cleft palate. On the basis of the subsequent genetic testing, the patient had a heterozygous mutation in the encoded c-propeptide region of collagen, type II, alpha 1 (COL2A1), c.4335G>A ($p.Trp1445^{\ast}$) in exon 52. This is the first case of PLSD-T diagnosed in Korea, and we hereby report the case.

A Study on MCG Imaging (MCG 영상진단 검사에 관한 연구)

  • Kim, Jong-Gyu
    • Korean Journal of Clinical Laboratory Science
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    • v.38 no.2
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    • pp.135-140
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    • 2006
  • Magnetocardiography (MCG) is the measurement and analysis of the magnetic component of the electro-magnetic field of the human heart, usually conducted externally, using extremely sensitive devices such as a Superconducting Quantum Interference Device (SQUID). MCG is a totally noninvasive method, it uses neither radiation nor ultrasonics. The magnetic activity of the heart is registered from outside the thorax. MCG has a very high sensitivity and a high spatial resolution for very a small, local myocardial current. In comparison to the electrical signals measured by an ECG, the magnetic signal does not disturb the boundaries of tissues with different electrical properties. MCG measures the myocardial function rather than describing the morphology. MCG is a relatively new technique that promises good spatial resolution and extremely high temporal resolution, thus complementing other heart activity measurement techniques such as Electrocardiography (ECG). The clinical uses of MCG are in detecting various cardiac disorders including myocardial infarction, ventricular hypertrophy, ventricular conduction defects, Wolff-Parkinson-White (WPW) syndrome, sudden cardiac death and fetal magnetocardiography. Magnetocardiography may be used alone or together with electrcardiography for the measurement of spontaneous or overloaded activity and for research or clinical purposes.

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A Case of Pulmonary and Retroperitoneal Lymphangioleiomyomatosis (폐와 후복강에 발생한 림프관평활근종증 1예)

  • Kwak, Nam-Ju;Park, Nam-Gu;Kim, He-Young;Choe, Gi-Won;Eom, Je-Ho;Kim, Dong-Un;Cho, Meong-Chan;Yun, Se-Jin;Kim, Sung-Taek;Lee, Sang-Do
    • Tuberculosis and Respiratory Diseases
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    • v.42 no.4
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    • pp.600-604
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    • 1995
  • Lymphangioleiomyomatosis, a rare disease in women of childbearing age, is the result of benign nodular hypertrophy of the smooth muscle of the lypmhatics and other tissues of the abdomen and thorax. We report a 36-years-old woman with pulmonary and retroperitoneal lymphangioleiomyomat.osis who responded with hormone treatment. She developed vaginal pruritis and a pelvic ultraound was done given her significant past medical history. Ultrasound examination demonstrated a large mass in the right side of her pelvis. Therefore she was admitted to St. Michael's Hospital in Toronto for laparoscopy. Result of cytology was to be consistent with the diagnosis of retroperitoneal lymphangioleiomyomatosis. High resolution CT sacn of the thorax demonstrated multiple small cystic lesions, without associated nodularity compatible with a diagnosis of pulmonary lymphangioleiomyomatosis. She has been taking Provera tablets 100mg po tid since Dec. 15, 1993. We have given her a prescription for Depo provera 500mg IM monthly since she came back to Korea. and made arrangements for regular follow up monthly. We performed chest X-ray, CT of chest(high resolution), abdomen and pelvis, pulmonary function tests and arterial blood gas analysis. Chest X-ray and CT findings showed no significant change since July. 20, 1993.

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