Abstract:
:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed; this disease entity is called FSHD2. FSHD2 is characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array D4Z4. In Korea, there have been no previous reports of FSHD2. We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, genetic analysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.
journal_name
Yonsei Med Jjournal_title
Yonsei medical journalauthors
Lee JH,Park HJ,Seong MW,Park SS,Choi YCdoi
10.3349/ymj.2021.62.1.95subject
Has Abstractpub_date
2021-01-01 00:00:00pages
95-98issue
1eissn
0513-5796issn
1976-2437pii
62.95journal_volume
62pub_type
abstract:PURPOSE:To report long term treatment outcomes of osteofibrous dysplasia and association with adamantinoma. PATIENTS AND METHODS:From January 1984 to July 2001, 14 patients with osteofibrous dysplasia were followed for an average of 108 months (78 to 260 months). Our patient group consisted of 6 men and 8 women, with ...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2007.48.3.502
更新日期:2007-06-30 00:00:00
abstract::Genetically modified (GM) soybean (carrying the EPSPS transgene) is the most common GM food in Korea. In order to assess whether genetic modification increases the allergenic risk of soybeans, the allergenicity and IgE-reactive components of wild-type and GM soybean extracts were compared in allergic adults who had be...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2006.47.4.505
更新日期:2006-08-31 00:00:00
abstract::Among intracranial meningiomas, falcotentorial meningiomas, occurring at the junction of the falx cerebri and tentorial dural folds, are extremely rare. Because of their deep location, they are surrounded by critical structures, and have been regarded as one of the most challenging lesions for surgical treatment. In t...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2016.57.4.1022
更新日期:2016-07-01 00:00:00
abstract::In this paper, a case of corneal squamous cell carcinoma is reported. Invasive squamous cell carcinoma of the cornea is a rare disorder and has not been previously described in the Korean literature. In this case, the invasive squamous cell carcinoma of the cornea was treated by complete excision and cryotherapy. No e...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2001.42.5.576
更新日期:2001-10-01 00:00:00
abstract:PURPOSE:Recent studies suggest new mechanisms of Botulinum toxin (BoNT) other than inhibiting acetylcholine (ACh) release from nerve terminals. The aim of this study was to determine whether other mechanisms for BoNT exist, so that it directly inhibits smooth muscle contraction. MATERIALS AND METHODS:Guinea pig antral...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2012.53.5.968
更新日期:2012-09-01 00:00:00
abstract::We report a case of a 25-month-old girl presented to us for the evaluation of a severe delayed psychomotor development who also has pigmentary abnormalities. Linear and whorled hyperpigmentations following Blaschko's lines were noticed on her entire body except on her face, palms, soles, eyes and mucous membranes, whi...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.1996.37.4.290
更新日期:1996-08-01 00:00:00
abstract::Although cysticercosis is the most common parasitic disease affecting the central nervous system, spinal cysticercosis is rare. A rare form of spinal cysticercosis involving the whole spinal canal is presented. A 45-year-old Korean male had a history of intracranial cysticercosis and showed progressive paraparesis. Sp...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2009.50.4.582
更新日期:2009-08-31 00:00:00
abstract::To report a non-fatal case of reperfusion pulmonary edema (RPE) after the removal of a hepatocellular carcinoma embolus, which had caused an acute obstruction of the tricuspid valve and pulmonary vasculature during a hepatic lobectomy. Pulmonary embolism caused by hepatocellular carcinoma embolus is extremely rare, an...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2006.47.2.271
更新日期:2006-04-30 00:00:00
abstract::Telomerase reverse transcriptase (TERT) is the protein component of telomerase and combined with an RNA molecule, telomerase RNA component, forms the telomerase enzyme responsible for telomere elongation. Telomerase is essential for maintaining telomere length from replicative attrition and thus contributes to the pre...
journal_title:Yonsei medical journal
pub_type: 杂志文章,评审
doi:10.3349/ymj.2014.55.1.1
更新日期:2014-01-01 00:00:00
abstract::The first case of haemorrhagic meningitis due to Bacillus anthracis in the European part of Turkey is reported here. B. anthracis, sensitive to penicillin, was isolated from the cerebrospinal fluid and blood cultures. Although appropriate therapy was administered, the patient died two days after hospitalization. ...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2005.46.1.159
更新日期:2005-02-28 00:00:00
abstract:PURPOSE:Rheumatoid arthritis (RA) is an inflammatory joint disorder, the progression of which leads to the destruction of cartilage and bone. Chemokines are involved in RA pathogenesis. In this study, we investigated the chemokine signaling pathway associated with CCL2 in peripheral blood (PB) and synovial tissues (ST)...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2015.56.4.1134
更新日期:2015-07-01 00:00:00
abstract:PURPOSE:To provide a systematic review with meta-analysis for addressing the relationship between fecal bile acids (FBAs) and colorectal cancer. MATERIALS AND METHODS:Electronic databases were searched for all observational studies that examined the relationship between FBAs and colorectal cancer or adenoma, and calcu...
journal_title:Yonsei medical journal
pub_type: 杂志文章,meta分析
doi:10.3349/ymj.2008.49.5.792
更新日期:2008-10-31 00:00:00
abstract:PURPOSE:To compare the cytological results of ultrasound-guided fine-needle aspiration (US-FNA) cytology of thyroid nodules to sonographic findings and determine whether US findings are helpful in the interpretation of cytological results. MATERIALS AND METHODS:Among the thyroid nodules that underwent US-FNA cytology,...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2011.52.5.838
更新日期:2011-09-01 00:00:00
abstract::We have used selective casting methods to separate pulmonary elastin from vascular elastin in the lungs of rabbits, dogs and pigs. The lungs are digested with 0.1 N NaOH at 75 degrees C for 24 approximately 48 hours with frequent turning as the lungs are filled with air to about 80% of the vital capacity prior to the ...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.1992.33.4.303
更新日期:1992-12-01 00:00:00
abstract::After glioma pathogenesis-related protein 1 (GLIPR1/Glipr1) was identified, the expression of GLIPR1 was shown to be down-regulated in human prostate cancer, owing in part to methylation in the regulatory region of this gene in prostate cancer cells. Additional studies showed that GLIPR1/Glipr1 expression is induced b...
journal_title:Yonsei medical journal
pub_type: 杂志文章,评审
doi:10.3349/ymj.2010.51.4.479
更新日期:2010-07-01 00:00:00
abstract::In this thesis, Korean prisoners' health behavior and the characteristics of their medical utilization were surveyed and analysed. Because prisoners are inclined to be mediators of communicable diseases or unhealthy behaviors between prison institution and the outside world, health care for prisoners is directly relat...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.1997.38.4.220
更新日期:1997-08-01 00:00:00
abstract::¹⁸F-AV-1451 is a tau PET ligand that has high affinity for paired helical filament tau. However, various off-target bindings unrelated to tau have also been reported. Herein, we report a case of 83-year-old woman, who showed abnormal uptake of AV-1451 that was shown to be subacute infarction. Clinicians should recogni...
journal_title:Yonsei medical journal
pub_type:
doi:10.3349/ymj.2018.59.4.563
更新日期:2018-06-01 00:00:00
abstract::Living donor liver transplantation (LDLT) was first successfully performed on a child in 1990 and the Shinshu group performed the same procedure on an adult for the first time in 1994. Over the past few years adult LDLT has been increasing worldwide because of the severe shortage of cadaveric organs, especially in loc...
journal_title:Yonsei medical journal
pub_type: 杂志文章,评审
doi:10.3349/ymj.2004.45.6.1076
更新日期:2004-12-31 00:00:00
abstract::Giant Meckel's diverticulum is a very rare lesion and its association with a congenital diaphragmatic hernia has not been reported previously. We report a case of newborn with a giant Meckel's diverticulum and congenital diaphragmatic hernia. A large round atypical air-filled bowel segment was found by chest radiograp...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2004.45.1.177
更新日期:2004-02-29 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is a dystrophinopathy, and its associated gene is located on Xp21. Moreover, utrophin, a recently identified structural homologue of dystrophin is reported to be up-regulated in DMD. In order to investigate the association between utrophin and muscle regeneration in DMD, an immunohist...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2003.44.1.15
更新日期:2003-02-01 00:00:00
abstract:PURPOSE:The purpose of this study is to evaluate the clinical results of treatment with a high dose of 3-dimensional conformal boost (3DCB) using a real-time tracking radiation therapy (RTRT) system in cervical cancer patients. MATERIALS AND METHODS:Between January 2001 and December 2004, 10 patients with cervical can...
journal_title:Yonsei medical journal
pub_type: 临床试验,杂志文章
doi:10.3349/ymj.2010.51.1.93
更新日期:2010-01-01 00:00:00
abstract::Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has al...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2012.53.2.454
更新日期:2012-03-01 00:00:00
abstract::This corrects the article on p. 267 in vol. 60, PMID: 30799589. ...
journal_title:Yonsei medical journal
pub_type: 杂志文章,已发布勘误
doi:10.3349/ymj.2019.60.4.402
更新日期:2019-04-01 00:00:00
abstract::Pyogenic sacroiliitis is a relatively rare condition that often leads to surgical treatment, including debridement and arthrodesis. Here we introduce a new surgical technique using bilateral dual iliac screws to secure early ambulation and maximal fusion success rate for the treatment of pyogenic sacroiliitis. We retr...
journal_title:Yonsei medical journal
pub_type:
doi:10.3349/ymj.2020.61.2.198
更新日期:2020-02-01 00:00:00
abstract:PURPOSE:The expression of p53 in patients with rectal cancer who underwent preoperative chemoradiation and and its potential prognostic significance were evaluated. MATERIALS AND METHODS:p53 expression was examined using immunohistochemistry in pathologic specimens from 210 rectal cancer patients with preoperative che...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2015.56.1.82
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:This study determined the seroprevalence of herpes virus 2 in gravidas and the differences between herpes virus 2-infected and healthy gravidas. The need to screen gravidas for herpes virus 2 was also evaluated. MATERIALS AND METHODS:A retrospective analysis involving 500 gravidas who underwent herpes virus 2 ...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2012.53.2.401
更新日期:2012-03-01 00:00:00
abstract:PURPOSE:Most studies on immune tolerance of mesenchymal stem cells (MSCs) have been performed using MSCs derived from bone marrow, cord blood, or adipose tissue. MSCs also exist in the craniofacial area, specifically in teeth. The purpose of this study was to evaluate the mechanisms of immune tolerance of dental pulp-d...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2017.58.5.1031
更新日期:2017-09-01 00:00:00
abstract::In the present work, we have examined the effect of PAF, removal of epithelium, the mechanism of desensitization, and the substances that increases the level of intracellular c-AMP on the differences of mediator release from superfused tracheal strips after passive sensitization with IgG1 versus IgE Ab. In the passive...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.1995.36.2.161
更新日期:1995-05-01 00:00:00
abstract::A giant esophageal liposarcoma showing rapid growth over 7 months is presented in 56-year-old man. It originated from the pharyngo-esophageal junction with a short stalk, and extended downward to the distal esophagus. A barium swallow study showed a large, sausage-like intraluminal mass in the dilated esophagus. CT an...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.2003.44.4.715
更新日期:2003-08-30 00:00:00
abstract::When ventilatory support becomes necessary in patients with acute respiratory failure, there is an associated increase in complications. We reviewed the charts of acute respiratory failure patients with the ventilatory support retrospectively who were admitted to the General Intensive Care Unit, Yonsei University Coll...
journal_title:Yonsei medical journal
pub_type: 杂志文章
doi:10.3349/ymj.1994.35.2.142
更新日期:1994-06-01 00:00:00