• 제목/요약/키워드: Combination syndrome

검색결과 234건 처리시간 0.029초

Kartagener's Syndrome ; 2례 보고 (Kartagener 증후군의 기관지확장증의 와과적 치료) (Kartagener's Syndrome ; A Report of Two Cases (Surgical Treatment of Bronchiectasis in Kartagener's Syndrome.))

  • 곽상룡;노준량
    • Journal of Chest Surgery
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    • 제12권3호
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    • pp.159-164
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    • 1979
  • Kartagener`s syndrome is a clinical entity comprising a combination of situs inversus, bronchiectasis, and sinusitis or nasal polyposis. This syndrome is rare and is usually seen in a young age group. The syndrome is punctated by recurrent upper respiratory tract infection and pneumonia. This is a report of Kartagener`s syndrome found in 18 years old male and 21 years old female patients who were received surgical treatment of bronchiectasis. The male patient was performed right transposed lingular segmentectomy and lower lobectomy and female patient was perforated left transposed middle lobectomy and lower lobectomy. Both patients were discharged with good results.

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A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene

  • Kim, Hamin;Lee, Hyunjoo;Lee, Young-Mock
    • Journal of Genetic Medicine
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    • 제17권2호
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    • pp.97-101
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    • 2020
  • The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified. An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.

Successful Surgical Treatment for Thoracoabdominal Aortic Aneurysm with Leriche Syndrome

  • Chong, Byung Kwon;Kim, Joon Bum
    • Journal of Chest Surgery
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    • 제48권2호
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    • pp.134-138
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    • 2015
  • Thoracoabdominal aortic aneurysm accompanied by Leriche syndrome is an extremely rare combination of aortic diseases, the surgical management of which has not been described to date. We report the successful treatment of one such case through open surgical repair of the thoracoabdominal aorta.

Waardenburg Syndrome 환아의 치과치료를 위한 정주 깊은 진정법 -증례보고- (IV Deep Sedation Management of Waardenburg Syndrome Child during Dental Treatment - A case report -)

  • 김승오
    • 대한치과마취과학회지
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    • 제6권1호
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    • pp.6-12
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    • 2006
  • IV Deep sedation is useful for Waardenburg syndrome Child undergoing extensive dental treatment. We experienced a case of dental treatment under W deep sedation in a 3 years old boy with Waardenburg syndrome. He was treated on an outpateint basis. He was diagnosed hypothyroidism and received thyroid hormone. Premedication was done using ketamine and atropine IM. Induction using $N_2O$-enflurane mask ventilation was uneventful and intravenous cathetering was carried out. IV deep sedation was maintained with midazolam-$N_2O$ combination. After monitoring the patient for 2 hours and confirming his recovery, he was discharged from the day care unit. In summary, we report this successful IV Deep sedation management of Waardenburg syndrome child during dental treatment in as out patient.

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Wire Guided Cannulation Facilitates Endoscopic Management of Buried Bumper Syndrome: A Novel Technique

  • Peck, Jacquelin;Sapp, Kaitlin;Wilsey, Alexander;Wilsey, Michael
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제22권1호
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    • pp.86-89
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    • 2019
  • Buried bumper syndrome is a rare but potentially severe complication of percutaneous endoscopic gastrostomy tube insertion. Though this complication is uncommon, it may lead to pressure necrosis, bleeding, perforation, peritonitis, sepsis, or death. Each case of buried bumper syndrome is unique in terms of patient comorbidities and anatomic positioning of the buried bumper. For this reason, many approaches have been described in the management of buried bumper syndrome. In this case report, we describe the case of an adolescent Caucasian female who developed buried bumper syndrome three years after undergoing percutaneous endoscopic gastrostomy insertion. We review diagnosis and management of buried bumper syndrome and describe a novel technique for bumper removal in which we use a guide wire in combination with external traction to maintain a patent gastrostomy lumen while removing the internal percutaneous endoscopic gastrostomy bumper.

Klinefelter 증후군에 병발된 재발한 원발성 종격동 비정상피종 1예 (A Case of Recurred Primary Mediastinal Nonseminomatous Germ Cell Tumor Associated with Klinefelter's Syndrome)

  • 진원종;신규석;박태현;서정환;이귀래;노용호;김정례;이석형
    • Tuberculosis and Respiratory Diseases
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    • 제44권6호
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    • pp.1419-1425
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    • 1997
  • 저지들은 재발된 원발성 종격동 비정상피종과 동반된 Klinefelter 증후군 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

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A Case of Antiphospholipid Syndrome Refractory to Secondary Anticoagulating Prophylaxis after Deep Vein Thrombosis-Pulmonary Embolism

  • Gu, Kang Mo;Shin, Jong Wook;Park, In Won
    • Tuberculosis and Respiratory Diseases
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    • 제77권6호
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    • pp.274-278
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    • 2014
  • Antiphospholipid syndrome (APS) is an acquired systemic autoimmune disorder characterized by a combination of clinical criteria, including vascular thrombosis or pregnancy morbidity and elevated antiphospholipid antibody titers. It is one of the causes of deep vein thrombosis and pulmonary embolism that can be critical due to the mortality risk. Overall recurrence of thromboembolism is very low with adequate anticoagulation prophylaxis. The most effective treatment to prevent recurrent thrombosis is long-term anticoagulation. We report on a 17-year-old male with APS, who manifested blue toe syndrome, deep vein thrombosis, pulmonary thromboembolism, and cerebral infarction despite adequate long-term anticoagulation therapy.

레이노병의 변증과 처방에 관한 문헌적 고찰 - 중국 논문 중심으로 - (Literature Review on Syndrome Differentiation and Herbal Medicine of Raynaud disease - Focusing on Traditional Chinese Medicine's Journals -)

  • 정종진
    • 동의생리병리학회지
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    • 제28권3호
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    • pp.263-270
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    • 2014
  • The objective of this study was to investigate the diagnosis and treatment of Raynaud disease such as syndrome differentiation and herbal medicine by reviewing Chinese traditional medicine's journals. The journal search was carried out using China National Knowledge Infrastructure(CNKI) and PubMed from January 2008 to August 2013. Searching key words were the various combination of "Raynaud disease", "traditional chinese medicine", "syndrome differentiation", "herbal medicine". The final selection of 38 studies were selected and summarized by researchers. The syndrome differentiation was classified as yang deficiency and cold syncope, qi stagnation and blood stasis. The most frequently prescribed herbal medication was Dangguisinitang.

Moyamoya Syndrome Precipitated by Cranial Irradiation for Craniopharyngioma in Children

  • Lee, Hyun-Seok;Seol, Ho-Jun;Kong, Doo-Sik;Shin, Hyung-Jin
    • Journal of Korean Neurosurgical Society
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    • 제50권6호
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    • pp.535-537
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    • 2011
  • Recently, combination of surgery and radiation therapy (RT) has been recommended in the treatment of craniopharyngioma. RT could be associated with late complications, including vasculopathy. We report two cases of the moyamoya syndrome seen in children with craniopharyngioma who received RT after surgical resection. Thirty-five patients in pediatric age with craniopharyngioma were surgically treated. Fifteen out of 35 patients underwent surgical resection followed by RT or gamma knife surgery. Two of the 15 were found to have symptoms of transient ischemic attack and were diagnosed as moyamoya syndrome through the cerebral angiography. Age at RT was 4 and 13 years, respectively. The latent period for development of the moyamoya syndrome was 27 months and 3 years, respectively, after RT. The RT dose of both patients was 54 Gy. These two patients received bilateral encephaloduroarteriosynangiosis procedures. We report here these two cases of radiation-induced moyamoya syndrome in pediatric craniopharyngioma. Pediatric patients with craniopharyngioma who received RT should be reminded, during follow-up, about the risk of development of the moyamoya syndrome.