• 제목/요약/키워드: Syndrome Generation

검색결과 94건 처리시간 0.02초

상하지 통합 PNF패턴이 부정렬증후군을 가진 20대 성인자세 정렬에 미치는 효과 (The Effect of Combined PNF Patterns of Upper and Lower Extremities on 20's Generation with Malalignment Syndrome)

  • 최재원
    • PNF and Movement
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    • 제10권4호
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    • pp.65-69
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    • 2012
  • Purpose : The purpose of this study was to verify effects of trunk inclination, side deviation using combined PNF patterns of upper and lower extremities on 20's generation with malalignment syndrome. Methods : 15 subjects with malalignment syndrome participated this study. We measured 2 factors(trunk inclination, side deviation). combined PNF patterns of upper and lower extremities were used intervention method for malalignment syndrome subjects. Experience during was 6 weeks. Results : The trunk inclination was significantly decreased. The value was from 0.87 to 0.43(p=0.27). The side deviation was too. The value was decreased 1.62(p=0.044). Conclusion : The results of this study indicate that the use of combined PNF patterns of upper and lower extremities for malalignment syndrome people was positive effect.

위증에 대한 문헌적 고찰 (The Literary study on Flaccidity-syndrome)

  • 곽중문;오민석
    • 혜화의학회지
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    • 제9권1호
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    • pp.661-689
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    • 2000
  • We came to the conculsion after considering all of information from many kinds of books on the cause, pathogenesis and treatment of Flaccidity-syndrome. The results were as follows : 1. Flaccidity-syndrome means limb-relaxation due to muscle atony that isn't able to constraction. It's begun as mild degree from extremities, in some cases ended to quadriplegia or expire. 2. Cause factor and pathogenesis of Flaccidity-syndrome is various. After Lung fluid consuption caused by heat-evil was refered in The Yellow Emperor's Canon of Internal Medicine. They were refered as cause factor that Main channel asthenia, excess of sexual intercourse, wetness-evil, heat-evil gets into the interior, asthenia of the spleen and stomach. Since Ming Dynasty, It's classified to wetness-heat evil, wetness-phlegm, deficiency of vital energy, deficiency of blood, deficiency of yin, blood stasis and indygestion, etc. 3. In the view of treatment of Flaccidity-syndrome, Yangming was selected in The Yellow Emperor's Canon of Internal Medicine, and it's been mean to clear away wetness-heat evil located at Yangming. In the method of acupuncture it was same on the base, and many skills have been used that electronic acupuncture, point-injection theraphy, acupuncture point block, catgut implantaion at acupuncture point, cutaneous acupuncture, auriculo-acupuncture and head acupuncture by the through post generation. 4. Flaccidity-syndrome was defined to weak, disuse and non-pain. Beacause it was non-pain, so medicine to expel wind-evil was prevented to use. But through post generation Flaccidity-syndrome has been treated that is able to cause pain or numness as arthralgia-syndrome. Therefore there is tendency that medicine to expel wind-evil is capable within pathological basement of Flaccidity-syndrome in recent. 5. In the view of west-medicine, Flaccidity-syndrome is diplegia or quadriplegia with sensory disorder, muscle atropy in some cases. And there are spinal disease, peripheral nerve disease, muscular disease, nerve-muscle copula disease. The symptoms are able to amyotomia, numness, sensory disorder, pain.

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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.

Surfactant preparations for preterm infants with respiratory distress syndrome: past, present, and future

  • Jeon, Ga Won
    • Clinical and Experimental Pediatrics
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    • 제62권5호
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    • pp.155-161
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    • 2019
  • Following the first successful trial of surfactant replacement therapy for preterm infants with respiratory distress syndrome (RDS) by Fujiwara in 1980, several animal-derived natural surfactants and synthetic surfactants have been developed. Synthetic surfactants were designed to overcome limitations of natural surfactants such as cost, immune reactions, and infections elicited by animal proteins contained in natural surfactants. However, first-generation synthetic surfactants that are protein-free have failed to prove their superiority over natural surfactants because they lack surfactant protein (SP). Lucinactant, a second-generation synthetic surfactant containing the SP-B analog, was better or at least as effective as the natural surfactant, suggesting that lucinactant could act an alternative to natural surfactants. Lucinactant was approved by the U. S. Food and Drug Administration in March 2012 as the fifth surfactant to treat neonatal RDS. CHF5633, a second-generation synthetic surfactant containing SP-B and SP-C analogs, was effective and safe in a human multicenter cohort study for preterm infants. Many comparative studies of natural surfactants used worldwide have reported different efficacies for different preparations. However, these differences are believed to due to site variations, not actual differences. The more important thing than the composition of the surfactant in improving outcome is the timing and mode of administration of the surfactant. Novel synthetic surfactants containing synthetic phospholipid incorporated with SP-B and SP-C analogs will potentially represent alternatives to natural surfactants in the future, while improvement of treatment modalities with less-invasive or noninvasive methods of surfactant administration will be the most important task to be resolved.

사암침법(舍巖鍼法)의 변형(變形)에 관(關)한 연구(硏究) (The Study on The variational Forms of Sa-Ahm's 5 Element Acupuncture Method)

  • 김달호;김중한
    • 한국한의학연구원논문집
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    • 제2권1호
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    • pp.337-380
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    • 1996
  • 'Nei Jing(內徑)' first defined the interrelationship of the true and tile false between evil factor affecting health(雅氣) and vital essence energy(精氣). According to 「'Nei Jing(內徑)', the above interrelationship is explained as 'If state of evil domination is considered as sthenia-syndrome(雅氣盛則實), if the consumption of healthy energy Is considered as asenia-syndrome(精氣尊則虛): 'Nei Jing(內徑)', proposed major features of the medicall treatment by 'regluate the vatal energy of asthenia and sthenia, treat the sthenia-syndrome by purgation, and treat the asenia-syndrome by therapy of invigoration(調其氣之虛實, 實則瀉之, 虛則補之): The above interrelationship was interpreted as 'treat the asthenia-syndrome of child organ by invigorating the mother organ(虛者補其母)'in the 69th of 'The Classic on Difficulty',(難經 六十九難). Go-Mu(高武) of Myung-dynasty describe therapy for invigoration and purgation of itself-meridian(自經 補瀉法), which locating acupuncture points according to the Therorr of Five Element in the five shu points of itself-meridian(自經 五유穴), based on the generation in the ${\ulcorner}$A Synthetical Book of Acupuncture and Moxibustion(針灸聚英)${\lrcorner}$, Sae-hyun Jang(張世賢) further extended location acupuncture points of the five shu points to the other-meridian in the ${\ulcorner}$Gyeo Jung Do Ju Nan Gyung(校正圖註難經)${\lrcorner}$ Sa-Ahm's 5 Element Acupuncture Method(舍嚴五行鍼法) was originated in 1644, the middle of the Yi-dynasty. It linked the reinforcing and reducing in acupuncture therapy which incorporated tlle asthenia-syndrome and sthenia-syndrome of the hollow organs, based on principle of the Yin Yang 5 Element Theory(陰陽五行學說), not only to the generation in the 5 element(相生關係) but also to the restriction in the 5 element(相剋關係). Furthermore it was devised for the medical treatment by comning therapy for invigoration and purgation of itself-meridian(自經 補瀉法) with that of the other-meridian. Even though many original forms(正形) of the therapy for invigoration and purgation of the Yin Yang 5 Element Theory comply with the principle of the generation and the restriction based on the principle of the Yin Yang 5 Element Theory are abailable, variational forms(變形) are also recognized by examining the nature of the Sa-Ahm's 5 Element Acupuncture Method(舍嚴五行鍼法), For this reason, it is very difficult to understand the Sa-Ahm's 5 Element Acupuncture Method(舍嚴五行鍼法) thoroughly. therefore, those variational forms are obstacles for the beginners to study the Sa-Ahm's 5 Element Acupuncture Method. In order to understand the principle of the practical clinical application of the Sa-Ahm's 5 Element Acupuncture Method, this study investigated which principle was based on the variations of the locating acupuncture points' method for the acupuncture prescription.

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A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)

  • Kim, Soo Kyoung;Jung, So Yoon;Bae, Seong Phil;Kim, Jieun;Lee, Jeongho;Lee, Dong Hwan
    • Journal of Genetic Medicine
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    • 제16권2호
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    • pp.81-84
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    • 2019
  • Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially those with mild or atypical phenotypes. A patient visited our clinic at 5 years of age with short stature. She was administered growth hormone treatment for 6 years, but her growth curve was still below the 3rd percentile. She and her mother had wide-spaced eyes and short stature, but there were no other remarkable features of a genetic syndrome. We analyzed their photographs using a smartphone facial recognition application. The results suggested Noonan syndrome; therefore, we performed targeted next-generation sequencing of genes associated with short stature. The results showed that they had a mutation on the PTPN11 gene known as the pathogenic mutation of Noonan syndrome. Facial recognition technology can help in the diagnosis of Noonan syndrome and other genetic syndromes, especially in patients with mild phenotypes.

병렬 CRC 생성 방식을 활용한 BCH 코드 복호기 설계 (Design of BCH Code Decoder using Parallel CRC Generation)

  • 갈홍주;문현찬;이원영
    • 한국전자통신학회논문지
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    • 제13권2호
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    • pp.333-340
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    • 2018
  • 본 논문은 병렬 CRC 생성 방식을 적용한 BCH 코드 복호기를 소개한다. 기존에 사용되는 병렬 신드롬 생성기로 LFSR(: Linear Feedback Shift Register)을 변형한 방식을 사용하면 짧은 길이의 코드에 적용하는 데 많은 면적을 차지한다. 제안하는 복호기는 짧은 길이 코드워드의 복호화를 위해 병렬 CRC(: Cyclic Redundancy Check)에서 체크섬을 계산하는 데 사용되는 방식을 활용하였다. 이 방식은 병렬 LFSR과 비교해 중복된 xor연산을 제거해 최적화된 조합회로로 크기가 작고 짧은 전파지연을 갖는다. 시뮬레이션 결과 기존 방식 대비 최대 2.01ns의 지연시간 단축 효과를 볼 수 있다. 제안하는 복호기는 $0.35-{\mu}m$ CMOS 공정을 이용하여 설계하고 합성되었다.

Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing

  • Hong, Hyun Dae;Kim, Eunja;Nam, Soo Hyun;Yoo, Da Hye;Suh, Bum Chun;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Genetic Medicine
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    • 제12권2호
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    • pp.109-117
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    • 2015
  • Purpose: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations in 2 Korean families with myoclonic epilepsy with ragged-red fibers (MERRF) and Leigh syndrome, respectively. Materials and Methods: Whole mtDNAs were sequenced by the method of mtDNA-targeted next-generation sequencing (NGS). Results: Two causative mtDNA mutations were identified from the NGS data. An m.8344A>G mutation in the tRNA-Lys gene (MT-TK) was detected in a MERRF patient (family ID: MT132), and an m.9176T>C (p.Leu217Pro) mutation in the mitochondrial ATP6 gene (MT-ATP6) was detected in a Leigh syndrome patient (family ID: MT130). Both mutations, which have been reported several times before in affected individuals, were not found in the control samples. Conclusion: This study suggests that mtDNA-targeted NGS will be helpful for the molecular diagnosis of genetically heterogeneous mitochondrial diseases with complex phenotypes.

A Case of Therapy-related Myelodysplastic Syndrome after FOLFOX4 Chemotherapy in Advanced Gastric Cancer

  • Kwang Il Seo;Sung Eun Kim;Moo In Park;Seun Ja Park;Won Moon;You Jin Han
    • Journal of Digestive Cancer Research
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    • 제4권1호
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    • pp.43-45
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    • 2016
  • Oxaliplatin is a third-generation platinum compound widely used to treat gastrointestinal malignancy. One of the major side effects of oxaliplatin is thrombocytopenia, the development of which can limit appropriate treatment. We report a 38-year-old man with advanced gastric cancer who developed severe thrombocytopenia after FOLFOX4 (oxaliplatin, leucovorin, and fluorouracil) chemotherapy. The thrombocytopenia was associated with therapy-related myelodysplastic syndrome after cytotoxic chemotherapy and was confirmed by bone marrow biopsy and genetic study. Therefore, physicians should be aware of therapy-related hematologic complications, especially with an oxaliplatin-based chemoregimen, and might consider the bone marrow study in those patients.

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Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?

  • Park, Sowon;Kang, Hoon-Chul;Lee, Jin-Sung;Park, Young Nyun;Kim, Seung;Koh, Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제20권4호
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    • pp.259-262
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    • 2017
  • Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.