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Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7

  • Kang, Yoongu;Kim, Jinsup;Lee, Hyun Ju;Park, Hyun Kyung
    • Journal of Genetic Medicine
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    • v.17 no.2
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    • pp.83-88
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    • 2020
  • Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed according to a clinical scoring system; however, the clinical diagnosis is confirmed with molecular testing, and the disease is stratified into the specific molecular subtypes. SRS is a genetically heterogeneous condition. The major molecular changes are hypomethylation of imprinting control region 1 in 11p15.5 and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Therefore, first-line molecular testing should include methylation-specific approaches for these regions. Here, we report an extremely low birth weight (ELBW) infant with intrauterine growth retardation, postnatal growth retardation, and dysmorphic facial appearance-characteristics consistent with the clinical diagnostic criteria of SRS. Methylation-specific molecular genetic analysis revealed UPD(7)mat, while the loss of heterozygosity was not detected on chromosomal microarray analysis. We present a case of SRS with suspected uniparental heterodisomy of chromosome 7 in an ELBW infant.

Effect of phosphatidylserine on cognitive function in the elderly: A systematic review and meta-analysis

  • Kang, Eun Young;Cui, Fengjiao;Kim, Hyun Kyung;Nawaz, Hadia;Kang, Sumin;Kim, Hayoon;Jang, Jihye;Go, Gwang-woong
    • Korean Journal of Food Science and Technology
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    • v.54 no.1
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    • pp.52-58
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    • 2022
  • Phosphatidylserine (PS) is an essential component of the cerebral cortex and is associated with cognitive function. In this systematic review, the effects of PS on cognitive function in the elderly population are examined. The literature search included PubMed, EMBASE, Cochrane, and Web of Science databases. Subsequently, nine studies, including five randomized controlled trials and four pre-post studies, were selected. There were 961 participants in the selected studies; PS dosage varied from 100 to 300 mg/d, and the experimental period ranged from 6 weeks to 6 months. Five out of the nine selected studies were assessed to have a 'low' risk of bias, whereas the other four studies were assessed to have 'some concerns' regarding the risk of bias. The results of the meta-analysis concluded that PS had a positive effect on the memory of older adults with cognitive decline. Thus, PS appears to improve age-associated cognitive decline, especially memory, with no adverse effects.

Giant Infrascapular Rheumatoid Nodules Mimicking Elastofibroma Dorsi: A Case Report (배부 탄성섬유종과 유사한 견갑하부에 발생한 류마티스 결절: 증례 보고)

  • Hyuk Gi Hong;Seung-Jin Yoo;Yo Won Choi;Seung Sam Paik;Seung Yun Jee;Yeo Eun Kim
    • Journal of the Korean Society of Radiology
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    • v.82 no.6
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    • pp.1589-1593
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    • 2021
  • Rheumatoid nodules are the most common extra-articular presentations of rheumatoid arthritis. Although rheumatoid nodules can develop anywhere in the body, they develop most commonly in the subcutaneous region, where they are easily exposed to repetitive trauma or pressure. However, an infrascapular presentation has not yet been reported. We report a case of giant bilateral rheumatoid nodules that developed in the infrascapular area, complicating its distinction from elastofibroma dorsi on radiological examination.

Wire or Hook Traction for Reducing Zygomatic Fracture

  • Ahn, Hee Chang;Youn, Dong Hyun;Choi, Matthew Seung Suk;Chang, Jung-Woo;Lee, Jang Hyun
    • Archives of Craniofacial Surgery
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    • v.16 no.3
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    • pp.131-135
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    • 2015
  • Background: Variable methods have been introduced for reduction of the zygomatic fractures. The Dingman elevator is used widely to reduce these fractures but is inappropriate in certain types of fractures which require atypical traction vectors. We introduce and examine an alternate method of reducing zygomatic fractures using wire and hook traction. Methods: A retrospective study was performed for all zygomatic fracture patients admitted between 2008 and 2014. Medially rotated fractures were reduced by using a wire looped through an intermaxillary screw secured on the medial side of the zygoma. Laterally rotated fractures were reduced using a hook introduced through an infrazygomatic skin incision. Results: No accidental bleeding or incomplete reduction was observed in any of the cases. Postoperative imaging demonstrated proper reduction immediately after the operation. Follow-up computed tomography study at 1 month after operation also demonstrated proper reduction and healthy union across the previous site of fracture. Conclusion: The hook and wire method allowed precise application of traction forces across zygomatic fractures. The fractured bone fragment could be pulled in the direction precisely opposite to the vector of impact at the time of trauma. Soft tissue damage due to dissection was minimized. In particular, this method was effective in reducing rotated bone fragments and can be an alternative option to using the zygoma elevator.

A Case of Concomitant Scrub Typhus and Leptospirosis (쓰쓰가무시병과 렙토스피라병 동시 감염 1예)

  • Lee, Sang-Pyo;Shin, Hyun Jong;Lee, Hee-Kyung;Kwak, Hyun Jung;Kim, Sang-Heon;Kim, Tae-Hyung;Sohn, Jang-Wong;Yoon, Ho-Joo;Shin, Dong-Ho;Park, Sung-Soo
    • Tuberculosis and Respiratory Diseases
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    • v.63 no.4
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    • pp.378-381
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    • 2007
  • Tsutsugamushi disease (Scrub typhus) is an acute, febrile illness caused by Orientia tsutsugamushi, which is transmitted to humans through chigger bites. Leptospirosis, a febrile disease caused by various pathogenic Leptospira, and is acquired by exposure to contaminated water and soil. Both diseases have been the most common acute febrile diseases in the autumn in Korea for many years. Concomitant leptospirosis and scrub typhus is quite rare. We report a case of a coinfection with leptospirosis and scrub typhus in a 51-year-old male who presented with fever, abdominal pain and acute dyspnea. The patient was diagnosed with as acalculous cholecystitis, acute respiratory distress syndrome, and septic shock caused by the infection. This is the first case report of a coinfection with leptospirosis and scrub typhus in Korea.

A Case of Pulmonary Infiltration with Eosinophilia in Visceral Larval Migrans by Toxocara Canis (개회충에 의한 유충 내장 이행증 1예)

  • Kim, Young-Chan;Shin, Sung-Joon;Lee, Jae-Hyung;Kim, Mi-Ok;Shon, Jang-Won;Yang, Seok-Chul;Yoon, Ho-Joo;Shin, Dong-Ho;Park, Sung-Soo;Ryu, Jae-Sook;Jeong, Myung-Sook
    • Tuberculosis and Respiratory Diseases
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    • v.53 no.1
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    • pp.71-78
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    • 2002
  • Human toxocariasis is a zoonotic parasitic disease caused by the larva of toxocara canis or cati. It is one of the most commonly reported zoonotic helminth infection in the world. Human are infected mainly by the accidental ingestion of embryonated eggs due to the pica, geophagia, the consumption of contaminated raw vegetables and poor personal hygiene particularly in childhood. In adults, the consumption of raw meat from potential paratenic hosts e.g. chickens, lambs, rabbits and dogs is a major cause of human toxocariasis. The larva can reach various organs such as the liver, lung, brain, and eye by the hematogenous spread and cause visceral larva migrans. We experience a case of pulmonary infiltration with eosinophilia by visceral larva migrans after eating the raw liver and kidney of a dog.

Antioxidant Effect of Captopril and Enalapril on Reactive Oxygen Species-Induced Endothelial Dysfunction in the Rabbit Abdominal Aorta

  • Kim, Ji Hoon;Kim, Hyuck;Kim, Young Hak;Chung, Won-Sang;Suh, Jung Kook;Kim, Sung Jin
    • Journal of Chest Surgery
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    • v.46 no.1
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    • pp.14-21
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    • 2013
  • Background: Reactive oxygen species (ROS) are known to be related to cardiovascular diseases. Many studies have demonstrated that angiotensin-converting enzyme inhibitors have beneficial effects against ROS. We investigated the antioxidant effect of captopril and enalapril in nitric oxide mediated vascular endothelium-dependent relaxations. Materials and Methods: Isolated rabbit abdominal aorta ring segments were exposed to ROS by electrolysis of the organ bath medium (Krebs-Henseleit solution) after pretreatment with various concentrations (range, $10^{-5}$ to $3{\times}10^{-4}$ M) of captopril and enalapril. Before and after electrolysis, the endothelial function was measured by preconstricting the vessels with norepinephrine ($10^{-6}$ M) followed by the cumulative addition of acetylcholine (range, $3{\times}10^{-8}$ to $10^{-6}$ M). The relevance of the superoxide anion and hydrogen peroxide scavenging effect of captopril and enalapril was investigated using additional pretreatments of diethyldithiocarbamate (DETCA, 0.5 mM), an inhibitor of Cu/Zn superoxide dismutase, and 3-amino-1,2,4-triazole (3AT, 50 mM), an inhibitor of catalase. Results: Both captopril and enalapril preserved vascular endothelium-dependent relaxation after exposure to ROS in a dose-dependent manner (p<0.0001). Pretreatment with DETCA attenuated the antioxidant effect of captopril and enalapril (p<0.0001), but pretreatment with 3AT did not have an effect. Conclusion: Both captopril and enalapril protect endothelium against ROS in a dose-dependent fashion in isolated rabbit abdominal aortas. This protective effect is related to superoxide anion scavenging.

A Case of Trousseau's Syndrome with Catastrophic Course Triggered by an Intravenous Injection (한번의 말초정맥주사로 유발되어 파국적으로 진행된 Trousseau증후군 1예)

  • Moon, Ji-Yong;Kim, Sa-Il;Kwak, Hyun-Jung;Song, Soon-Young;Kim, In-Soon;Kim, Sang-Heon;Kim, Tae-Hyung;Sohn, Jang-Won;Yoon, Ho-Joo;Shin, Dong-Ho;Park, Sung-Soo
    • Tuberculosis and Respiratory Diseases
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    • v.71 no.2
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    • pp.134-138
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    • 2011
  • Trousseau's syndrome is an unexplained thrombotic event that precedes the diagnosis of an occult visceral malignancy or appears concomitantly with the tumor. Upper extremity deep vein thrombosis is prevalent in patients with a central venous catheter. Furthermore, a peripheral intravenous injection may cause upper extremity deep vein thrombosis as well. However, a deep vein thrombosis has not been reported in the form of Trousseau's syndrome with a catastrophic clinical course triggered by a single peripheral intravenous injection. A 48-year-old man presented with a swollen left arm on which he was given intravenous fluid at a local clinic due to flu symptoms. Contrast computed tomgraphy scans showed thromboses from the left distal brachial to the innominate vein. The patient developed multiple cerebral infarctions despite anticoagulation treatment. He was diagnosed with stomach cancer by endoscopic biopsy to evaluate melena and had a persistently positive lupus anticoagulant. After recurrent and multiple thromboembolic events occurred with treatment, he died on day 20.

A Case of Pulmonary Paragonimiasis Mimicking Pulmonary Tuberculosis (폐결핵으로 오인된 폐흡충증 1예)

  • Kim, Hyun Soo;Ko, Young Sun;Kwak, Hyun Jung;Lee, Hee Kyung;Kim, Sang Heon;Kim, Tae-Hyung;Sohn, Jang Won;Yoon, Ho Joo;Shin, Dong Ho;Park, Sung Soo
    • Tuberculosis and Respiratory Diseases
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    • v.63 no.5
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    • pp.440-443
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    • 2007
  • Paragonimiasis mainly occurs by ingestion of raw or undercooked freshwater crabs or crayfish. In our country, the prevalence of paragonimiasis was high until late 1960s due to eating habits, but after the 1970s the prevalence of the disease has markedly decreased and now the disease is rarely seen. As the clinical and radiological features as well as the laboratory findings are similar to that of pulmonary tuberculosis, the differential diagnosis of pulmonary paragonimiasis is very difficult. We experienced a case of a patient with pulmonary paragonimiasis who was treated as having pulmonary tuberculosis.

Surgical Management of Critical Pulmonary Stenosis -A case report- (중증 폐동맥협착증의 외과적 치료 -1례 보고-)

  • Jung, Tae-Yeol;Ban, Dong-Gyu;Kim, Hyuck;Kim, Young-Hak;Chung, Won-Sang;Kang, Jeong-Ho;Jee, Heng-Ok;Lee, Chul-Bum;Kim, Nam-Su;Seoh, Jung-Kuk
    • Journal of Chest Surgery
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    • v.33 no.12
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    • pp.963-967
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    • 2000
  • 정상심실중격의 폐동맥협착은 흔한 선천성 심장질환이지만 신생아기에 심한 증세를 보이는 위기적 폐동맥 협착은 드물며 예후도 대단히 나쁘다. 경피적 풍선 판막성형술의 발달과 함께 폐동맥협착의 외과적 치료는 더욱 줄어드는 추세이다. 본 증례는 정상심실중격의 위기적 폐동맥협착증으로 진단받은 생후 2일된 남자 신생아로 심한 청색증과 저산소증을 보여 응급실로 내원하였다. 환아는 산소공급 및 Prostaglandin E$_1$을 투여 후 동맥혈 산소 분압이 19 mmHg에서 54mmHg로 증가하였다. 경피적 풍선 판막성형술을 시도하였으나 유도도관(Guide wire)이 판막의 개구부를 통과하지 못하였고 시술도중 심낭내로 조영제가 고이는 소견을 보여 우심실 천공이 의심되었으므로 응급으로 정상체온의 체외순환하에서 폐동맥 절개후 폐동맥 판막절개술을 시행하였다. 수술 후 중환자실에서의 수술경과는 양호하였고 현재 수술 6개월째 외래 추적관찰중이다.

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