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A case of de novo duplication of 15q24-q26.3

  • Kim, Eun-Young;Kim, Yu-Kyong;Kim, Mi-Kyoung;Jung, Ji-Mi;Jeon, Ga-Won;Kim, Hye-Ran;Sin, Jong-Beom
    • Clinical and Experimental Pediatrics
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    • v.54 no.6
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    • pp.267-271
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    • 2011
  • Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings (오누이에서 발생한 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군의 임상 증상)

  • Kim, Young Ok;Cho, Young Kuk;Song, En Song;Han, Dong Kyun;Choi, Ic Sun;Baek, Hee Jo;Kim, Chan Jong;Woo, Young Jong;Choi, Young Youn
    • Clinical and Experimental Pediatrics
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    • v.51 no.11
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    • pp.1241-1244
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    • 2008
  • We report on 2 siblings with a partial trisomy of 7q ($7q22{\rightarrow}qter$) and concomitant partial monosomy of 8p ($8p23.3{\rightarrow}pter$), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.

Influence of Isoproterenol on Intra-renal Blood Flow in the Dog (개의 신내혈류(腎內血流)에 미치는 Isoproterenol의 영향(影響))

  • Park, Ki-Dong
    • The Korean Journal of Pharmacology
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    • v.5 no.2
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    • pp.141-148
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    • 1969
  • The direct effect of isoproterenol on renal function, when given intravenously, is usually obscured by its potent hypotensive action. To obviate the latter action, isoproterenol was infused directly into one renal artery of the dog, the other kidney serving as a control for the general action. And following results were obtained. In the first series of experiments, the directic action of isoproterenol was ascertained. $1.0\;{\mu}g/kg/min$. reduced on both kidneys the urine flow, clearances of PAH and creatinine, as well as the amount of sodium excreted, but the effect was weaker on the experimental side than on contralateral side. With $0.1\;{\mu}g/kg/min$., two cases among 6 experiments showed marked diuresis, two cases no apparent effect, and another two marked antidiuresis on the experimental kidney, whereas the contralateral kidney exhibited antidiuresis in all cases. Further reducing the dose unmasked the diuretic action on the ,experimental kidney. In another series, the effects of isoproterenol on the blood flow distribution within the kidney and on sodium concentration gradient within the kidney tissue were observed. $0.05\;{\mu}g/kg/min$ isoproterenol markedly increased the medullary plasma flow and slightly increased total renal plasma flow and glomerular filtration rate, along with concomitant increase in the amount of sodium excreted and osmolar clearance, and decrease in reabsorption of free water. Sodium concentration gradient markedly decreased in the experimental kidney, reaching 2/3 of the value observed in the contralateral kidney at the papilla. It is thus concluded that isoproterenol exerts a diuretic action, when infused directly into a renal artery, and the mechanism of the action rests on its hemodynamic action, substantiated as the increase in glomerular filtration and in the medullary blood flow, resulting in washout of hyperosmolality produced by the coutercurrent multiplier system.

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"Mini-Flow-Through" Deep Inferior Epigastric Perforator Flap for Breast Reconstruction with Preservation of Both Internal Mammary and Deep Inferior Epigastric Vessels

  • Satake, Toshihiko;Sugawara, Jun;Yasumura, Kazunori;Mikami, Taro;Kobayashi, Shinji;Maegawa, Jiro
    • Archives of Plastic Surgery
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    • v.42 no.6
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    • pp.783-787
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    • 2015
  • This procedure was developed for preservation of the rectus muscle components and deep inferior epigastric vessel after deep inferior epigastric perforator (DIEP) flap harvesting. A 53-year-old woman with granuloma caused by silicone injection underwent bilateral nipple-sparing mastectomies and immediate reconstruction with "mini-flow-through" DIEP flaps. The flaps were dissected based on the single largest perforator with a short segment of the lateral branch of the deep inferior epigastric vessel that was transected as a free flap for breast reconstruction. The short segments of the donor deep inferior epigastric vessel branch are primarily end-to-end anastomosed to each other. A short T-shaped pedicle mini-flow-through DIEP flap is interposed in the incised recipient's internal mammary vessels with two arterial and four concomitant venous anastomoses. Although it requires multiple vascular anastomoses and a short pedicle for the flap setting, the mini-flow-through DIEP flap provides a large pedicle caliber, enabling safer microsurgical anastomosis and well-vascularized tissue for creating a natural breast without consuming time or compromising the rectus muscle components and vascular flow of both the deep inferior epigastric and internal mammary vessels.

Acute Traumatic Medial Dislocation of the Tendon of the Long Head of the Biceps Brachii with Concomitant Subscapularis Rupture - A Case Report - (견갑하근 파열과 동반된 상완 이두근 장두의 외상성 내측 탈구 -1례보고-)

  • Kim Seung Key;Park Jong Beom;Choi Woo-Sung;Kim Ho- Tae;Chang Han
    • Clinics in Shoulder and Elbow
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    • v.1 no.2
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    • pp.154-159
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    • 1998
  • Medial dislocation of the long head of the biceps brachii is a rare condition that usually occurs in association with tears of the subscapularis, chronic impingement, capsular defects or a fracture of the lesser tuberosity. Less commonly, a biceps tendon dislocation may occur after an acute traumatic event. Following a dislocation, the biceps tendon will assume either an intra- or extra-articular position depending on whether or not the subscapularis tendon detaches from its humeral insertion. Magnetic resonance imaging has been found to provide valuable information concerning the location of the biceps tendon and the integrity of the subscapularis tendon. We present a patient with a traumatic dislocation of the biceps brachii tendon in which the diagnosis remained elusive for an extended period of time. In this case, he was evaluated using MRI and reconstruction was performed by restoring the tendon to its anatomical position.

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Management of Ipsilateral Fractures of Humerus and Forearm in Adults (성인에서 동측에 발생한 상완골과 전완골 골절의 치료)

  • Sohn Sung-Keun;Kim Byeong-Hwan;Yang Sung-Wook
    • Clinics in Shoulder and Elbow
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    • v.1 no.2
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    • pp.212-220
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    • 1998
  • Concomitant ipsilateral fractures of the humerus, radius and ulna are uncommon combined injury and are also called "floating elbow". It was found that this injury was usually a result of rather severe trauma and frequently associated injuries to other organ systems. It is controversial in the treatment of the "floating elbow", but the current treatment recommendations are open reduction and internal fixation of both the humerus and the forearm fracture with early initiation of range of motion exercises. The authors reviewed thirteen cases of ipsilateral fractures of the humerus, radius and ulna treated in our clinic from January 1992 to March 1997, and average follow-up period was over 18 months(range, 12 to 36 months). The results obtained were as follows; 1. The most common cause of injury was traffic accident and most common location of fractures was mid-third in both humerus and forearm. 2. The shape of fractures was transverse or comminuted in most cases. 3. The good clinical results were obtained by open reduction and internal fixation of both the humerus and the forearm fracture with early initiation of range of motion exercises. 4. The recovery was affected by the severity of the initial trauma and method of the treatment. 5. According to the Lange and Foster method, the functional result was good in 8 cases, fair in 4 cases and poor in 1 cases.

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Traumatic Posterior Dislocation of the Shoulder with Ipsilateral Humeral Surgical Neck Fracture in a Child - A Case Report - (소아에서 동측 상완골 외과적 경부 골절을 동반한 외상성 견관절 후방 탈구 - 증례 보고 -)

  • Kang, Suk;Chung, Phil-Hyun;Kim, Jong-Pil;Kim, Young-Sung;Lee, Ho-Min;Kim, Jong-Hyun
    • Clinics in Shoulder and Elbow
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    • v.14 no.1
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    • pp.80-83
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    • 2011
  • Purpose: Traumatic posterior dislocation of the shoulder in a child is extremely rare, and posterior dislocation of the shoulder concomitant with ipsilateral humeral surgical neck fracture has not been reported in a child previously in Korea. Materials and Methods: The authors treated a 10-year-old with posterior dislocation of left shoulder and an ipsilateral humeral surgical neck fracture, that occurred during Taekwondo practice, by open reduction of the shoulder and pin fixation under general anesthesia. Results: A normal range of motion with complete union and good remodeling was achieved without redislocation or avascular necrosis of humeral head at 1 year after surgery. Conclusion: The authors report a successfully treated case of traumatic posterior dislocation of the shoulder with an ipsilateral humeral surgical neck fracture in child.

A Retrospective Study of Intracorneal Hemorrhage in 6 Small Breeds Dogs (2007~2011) (소형견의 각막내 출혈에 대한 후향적 연구: 6예 (2007-2011))

  • Yoo, Sukjong;Ji, Dongbeom;Kim, Hwiyool;Seo, Kangmoon;Jeong, Manbok
    • Journal of Veterinary Clinics
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    • v.30 no.4
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    • pp.288-291
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    • 2013
  • The purpose of the retrospectivestudy was to describe the clinical findings and treatment of intracorneal hemorrhage (ICH) in canine small breeds. The medical records of 6 dogs with ICH (January 2007 to November 2011) were examined to obtain the breed, age, gender, affected eye, cornea area, treatment, and follow-up. A total of 12 corneal areas in 8 eyes were identified in 6 dogs (4 Yorkshire terriers, 1 Poodle, and 1 Maltese). The mean age ${\pm}SD$ at the first presentation was $12.3{\pm}2.8$years, and 5 of 6 dogs were over 12 years old. ICH caused by corneal neovascularization was the most common in the nasal area of cornea (nasal 6/12, superior 4/12, and inferior 2/12) and recurred in different area of same or other cornea in 3 dogs. There were no concomitant corneal diseases at the initial presentation. All dogs affected were treated with combination of topical antibiotics and steroids and subconjuctival injection of steroids. The results showed that ICH can be treated with long-term medical therapies. In addition, further study would be needed to identify specific causes for the intracorneal hemorrhage.

Induction of Apoptosis by Gamisamgibopae-tang in A549 Human Lung Cancer Cells through Modulation of Bcl-2 Family and Activation of Caspases (Bcl-2 family 발현 변화 및 caspases의 활성을 통한 가미삼기보폐탕의 A549 인체폐암세포 apoptosis 유도)

  • Kim, Hyun-Joong;Kim, Hong-Gi;Kim, Jin-Young;Kam, Cheol-Woo;Park, Dong-Il
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.22 no.3
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    • pp.630-641
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    • 2008
  • Gamisamgibopae-tang (GMSGBPT) is a traditional Korean medicine, which has been used for patients suffering from a lung disease in Oriental medicine. In the present study, we examined the biochemical mechanisms of apoptosis by GMSGBPT in NCI-H460 and A549 human non-small-cell lung cancer cell lines. It was found that GMSGBPT could inhibit the cell proliferation of A549 cells in a concentration-dependent manner, however GMSGBPT did not affect the cell proliferation of NCI-H460 cells. Apoptotic cell death in A549 cells were detected using DAPI staining and annexin V fluorescein methods. The induction of apoptotic cell death by GMSGBPT was connected with a down-regulation of anti-apoptotic Bcl-2 and Bcl-xL expression, and proteolytic activation of caspase-3 and caspase-9 in A549 cells. However, GMSGBPT did not affect the levels of pro-apoptotic Bax and Bad expression, and activity of caspase-8. GMSGBPT treatment also concomitant degradation and/or inhibition of poly (ADP-ribose) polymerase (PARP), ${\beta}$-catenin, phospholipase C-1 (PLC${\gamma}$1) and DNA fragmentation factor 45/inhibitor of caspase-activated DNase (DFF45/ICAD). Taken together, these findings suggest that GMSGBPT may be a potential chemotherapeutic agent for the control of human non-small-cell lung cancer cells and further studies will be needed to identify the active compounds that confer the anti-cancer activity of GMSGBPT.

Reduction of Photodamage by TopicaI Application of a Novel Anti-Wrinkle Agent Containing Growth Factors

  • Kim, Ju-Mi;Ahn, Gook-Jun;Sohn, Young-Sung;Kang, Kyung-Koo;Ahn, Byoung-Ok;Lee, Jung-Hwan;Kim, Byung-Moon;Kwon, Jong-Won;Kim, Won-Bae
    • Biomolecules & Therapeutics
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    • v.12 no.3
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    • pp.157-164
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    • 2004
  • DA-3711 is a novel anti-wrinkle agent containing growth factors derived from culture medium of artificial human skin. Photoprotective effect by DA-3711 against chronic UVB (ultraviolet B)-induced skin damage was investigated in hairless mice model. Methods: After hairless mice were irradiated to induce photodamage for 8 weeks with UVB, grouped mice were treated topically once a day with lotion base, DA-3711 (30% or l5%), Cylasphere retinol$^{\circed{R}}$ (2500 I.U.), NouriCel$^{\circed{R}}$ along with concomitant exposure to UVB for further 8 weeks. Then mice were sacrificed to assess photodamage-protective effect by replica analysis, biochemistry and histology. DA-3711 of 30% lotion significantly reduced UVB radiation-induced wrinkling, histological alterations and increased collagen contents. Whereas DA-3711 of l5% lotion and NouriCel$^{\circed{R}}$ treatment showed a partial protective effect on skin wrinkle, epidermal and dermal thickness, and collagen content, Cylasphere retinol$^{\circed{R}}$ showed no protective effects. These results demonstrate that topical application of DA-3711 can alleviate UVB-induced photodamage and potentially be used for reduction of UVB-induced photodamage.