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한영미,이나래,배미혜,박경희,신진홍,김대성,변신연 대한신생아학회 2016 Neonatal medicine Vol.23 No.3
This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and dis- cusses the spectrum of brain involvement in MDCMD. A neonate presented hypo- tonia, increased serum creatine kinase levels, and polymicrogyria and subcortical heterotopia on brain MRI involving both posterior temporal and occipital lobes. Al- though these findings suggested Fukuyama muscular dystrophy, muscle biopsy show- ed dystrophic changes and an absence of merosin staining. We found that compound heterozygous mutation for c.2049_2050delAG (p.R683fs) and c.5866-2A>G in the LAMA2 gene which encodes Laminin-α2. To our knowledge, this is the second Korean case of MDCMD with polymicrogyria and subcortical heterotopias. This case shows that a range of brain structural malformations can be found in children with MDCMD and that the classification of congenital muscular dystrophy (CMD) is not complete yet, as indicated previously in reports suggesting other unclassified forms of CMD.
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한영미,Han, Young-Mi 한국호스피스완화의료학회 2000 한국호스피스.완화의료학회지 Vol.3 No.1
목적 : 본 연구는 호스피스 병동과 독립기관에 입원한 환자의 영적 요구를 알아보고자 실시하였다. 방법 : 대상자는 9개 기관에서 선정한 환자 49명과 보호자 40명이며, 자료수집 기간은 1999년 6월부터 8월까지였다. 결과 : 1) 일반적 특성에 따른 영적 요구는 환자의 경우 위암 환자 군, 여성 군, 대졸 이상군, 기독교군, 호스피스 간호기간 $8{\sim}14$일 군 및 신앙이 중요하다고 하는 군에서 유의하게 높았고, 보호자의 경우는 기타 종교를 가진 군, 투병기간 $3{\sim}5$년 미만인 군이 높았다. 2) 영적 요고, 전체 평균에서 환자가 $3.69{\pm}0.52$로 보호자 $4.06{\pm}0.42$보다 유의하게 낮았다. 영역별 순위는 환자가 삶의 의미와 희망영역에서, 보호자는 사랑과 관심영역에서 가장 높았고, 종교적 영역은 공통적으로 낮았다. 문항에서는 사랑과 관심영역에서 환자는 '부드럽게 말해주길 원한다'가, 보호자는 '슬프고 외로울 때 따뜻하게 질문에 대답해 주길 원한다'를 가장 많이 요구했고, 또한 환자는 '다른 환자보다 본인에게 신경 써 주길 원한다'와 보호자는 '환자는 부드럽게 말해주길 원한다'가 가장 요구가 낮았다. 종교적 영역의 문항 중 '모든 것에서 벗어나 마음이 평안해 질 수 있도록 도와주길 원한다'는 환자와 보호자 모두 요구가 높았으며, '신을 알 수 있는 책을 권유해 주길 원한다'가 가장 요구가 낮았다. 삶의 의미와 희망에 관한 영역의 문항 중 두 군 모두 '희망을 갖도록 해 주길 원한다'가 가장 많이 원했으며, '관계가 좋지 않은 사람과 화해할 수 있는 기회를 가지도록 배려해 주길 원한다'가 가장 낮았다. 결론 : 호스피스 환자의 영적 요구를 더 깊이 알고 이해하기 위해서는 개별적인 심층면담이 실시되어야 한다고 사료되며, 이를 통해 호스피스 팀은 환자가 원하는 영적 간호를 실시하도록 체계적인 접근 방법을 강구해야 할 것으로 사료된다. Purpose : The purpose of the study is to disclose the spiritual needs of hospice patients. Method : The questionaire survey was carried out on 49 hospice patients and 40 caregivers who were in the 9 hospice institutions from lune to August in 1999. Results : In the patients, mean scores of the spiritual needs were significantly higher in the group with stomach cancer, college education, christians, $8{\sim}14$ days of hospice care and the group thinking that religion was important, and in the caregivers in the group of religions besides christianity and lives under $3{\sim}5$ years of medical treatment. In the total average of the spiritual needs, the patients's average was significantly lower than the caregiver's. Among the different categories, the patient's needs were highest in the area of meaning of life and the hope, the caregiver's needs in the love and the concern. However, both groups were low in the religion area. In the items of the love and the concern, the patient was highly responding to the 'wanting someone to give warm concern in conversation' and the caregiver was highly responding to the 'giving a warm response to questions on the sad and hard time'. And also, the patient was lowly responding to the 'wanting more concerns to him than other patients', and the caregiver was low responding to the 'patients wanting warm response in conversation'. In the categories of religious area both group were highly responding to the 'wanting to be helped to relax out of all'. And they gave lowest response to the 'wanting to introduce a book to know God'. In the area of meaning of life and hope, the both groups gave highest response to the 'wanting to be guided to have the hope' and lowest to the 'wanting to have opportunity to reconcile the person with bad relationship'. Conclusion : Summing up the above results, personal in-depth conversation is necessary to understand more deeply the spiritual needs of hospice patient. Moreover the hospice team needs to have more systematic approach to find out the spiritual needs of hospice patients.
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Neonatal Iliopsoas Abscess: The First Korean Case
한영미,김안영,임령경,박경희,변신연,김수홍,김해영 대한의학회 2015 Journal of Korean medical science Vol.30 No.8
Iliopsoas abscess (IPA) is rare in neonates. We present a case of neonatal IPA that was initially believed to bean inguinal hernia. A 20-day-old male infant was referred to our hospital for herniorrhaphy after a 2-day history of swelling and bluish discoloration of the left inguinal area and leg without limitation of motion. Abdominal and pelvic ultrasonography suggested a femoral hernia, but the anatomy was unclear. Abdominal computed tomography revealed a multi-septated cystic mass extending into the psoas muscle from the lower pole of the left kidney to the femur neck. Broad spectrum antibiotics were initiated, and prompt surgical exploration was planned. After opening the retroperitoneal cavity via an inguinal incision, an IPA was diagnosed and surgically drained. Culture of the abscess fluid detected Staphylococcus aureus, sensitive to methicillin. The patient was discharged without complication on the 17th postoperative day.
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X-linked recessive myotubular myopathy with MTM1 mutations
한영미,권경아,이윤진,남상욱,박경희,변신연,김구환,유한욱 대한소아청소년과학회 2013 Clinical and Experimental Pediatrics (CEP) Vol.56 No.3
X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.
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