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1.
Journal of Genetic Medicine ; : 1-10, 2020.
Artículo | WPRIM | ID: wpr-835781

RESUMEN

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, which is characterized by the oligo/ anovulation, hyperandrogenism (HA) and polycystic ovarian morphology which are diagnostic criteria. PCOS has diverse clinical aspects in addition to those diagnostic criteria including increased risk for cardiovascular diseases, metabolic syndrome, dyslipidemia, type 2 diabetes and impaired fertility. Because of the heterogeneity of the disease, the pathogenesis of the disease has not been elucidated yet. Therefore, there is no cure for the endocrinopathy. HA and insulin resistance (IR) has been considered two major pillars of the pathogenesis of PCOS. Recent advances in animal studies revealed the critical role of neuroendocrine abnormalities in developing PCOS. Several pathways related to neuroendocrine origin have been investigated such as hypothalamus pituitary ovarian axis, hypothalamus pituitary adrenal axis and hypothalamus pituitary adipose axis. This review summarizes the current knowledge about the role of HA and IR in developing PCOS. In addition, we review the results of recent genome wide association studies for PCOS. This new perspective improves our understanding of the role of neuroendocrine origins in PCOS and suggest a novel potential therapeutic target for the treatment of PCOS.

2.
Journal of Genetic Medicine ; : 118-122, 2015.
Artículo en Inglés | WPRIM | ID: wpr-195761

RESUMEN

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.


Asunto(s)
Femenino , Humanos , Embarazo , Aneuploidia , Consejo , Diagnóstico , ADN , Síndrome de Down , Feto , Genoma , Secuenciación de Nucleótidos de Alto Rendimiento , Corea (Geográfico) , Tamizaje Masivo , Mosaicismo , Plasma , Embarazo Múltiple , Diagnóstico Prenatal , Aberraciones Cromosómicas Sexuales , Trisomía , Síndrome de Turner
3.
Journal of the Korean Neurological Association ; : 38-41, 2014.
Artículo en Coreano | WPRIM | ID: wpr-189691

RESUMEN

Rheumatoid meningoencephalitis is a rare, but severe complication of rheumatoid arthritis (RA). A 64-year-old woman with the history of RA presented with abnormal behaviors and memory impairments since stopping methotrexate due to asymptomatic meningitis before 1 month. Brain MRI still demonstrated leptomeningeal enhancement in right fronto-temporal area, compared with the previous. Brain biopsy revealed multiple yellowish suppurative streaks in dura, and microscopically lymphoplasmic infiltrations and fibroid necrosis surrounded by granuloma. Soon after beginning treatment with corticosteroid and methotrexate, her symptoms improved.


Asunto(s)
Femenino , Humanos , Persona de Mediana Edad , Artritis Reumatoide , Biopsia , Encéfalo , Granuloma , Leiomioma , Imagen por Resonancia Magnética , Memoria , Meningitis , Meningoencefalitis , Metotrexato , Necrosis
4.
Journal of the Korean Neurological Association ; : 192-195, 2013.
Artículo en Coreano | WPRIM | ID: wpr-135478

RESUMEN

Direct carotid cavernous fistula (CCF), which is an abnormal communication between the intracavernous carotid artery and the cavernous sinus, is a very rare condition that is generally associated with head trauma, intracavernous aneurysms, and certain connective-tissue diseases. The case of a patient with an infarction in the anterior choroidal artery territory is described herein. Cerebral angiography was performed during consecutive workups to investigate the discrepancy between the magnetic resonance angiography data. An unexpected direct CCF of the ipsilateral side of the infarction was found. It is possible that the CCF had influenced the development of the infarction in the anterior choroidal artery territory.


Asunto(s)
Humanos , Aneurisma , Arterias , Arterias Carótidas , Seno Cavernoso , Cuevas , Angiografía Cerebral , Infarto Cerebral , Coroides , Traumatismos Craneocerebrales , Fístula , Infarto , Angiografía por Resonancia Magnética
5.
Journal of the Korean Neurological Association ; : 192-195, 2013.
Artículo en Coreano | WPRIM | ID: wpr-135475

RESUMEN

Direct carotid cavernous fistula (CCF), which is an abnormal communication between the intracavernous carotid artery and the cavernous sinus, is a very rare condition that is generally associated with head trauma, intracavernous aneurysms, and certain connective-tissue diseases. The case of a patient with an infarction in the anterior choroidal artery territory is described herein. Cerebral angiography was performed during consecutive workups to investigate the discrepancy between the magnetic resonance angiography data. An unexpected direct CCF of the ipsilateral side of the infarction was found. It is possible that the CCF had influenced the development of the infarction in the anterior choroidal artery territory.


Asunto(s)
Humanos , Aneurisma , Arterias , Arterias Carótidas , Seno Cavernoso , Cuevas , Angiografía Cerebral , Infarto Cerebral , Coroides , Traumatismos Craneocerebrales , Fístula , Infarto , Angiografía por Resonancia Magnética
6.
Korean Journal of Perinatology ; : 9-12, 2012.
Artículo en Inglés | WPRIM | ID: wpr-143984

RESUMEN

Extra-amniotic pregnancy, which is caused by rupture of amniotic membranes only, is a rare event during pregnancy. This differs from extra-membranous pregnancy in which both chorionic and amniotic membranes rupture. Extra-amniotic pregnancy requires attention by an obstetrician not to miss fetal anomalies because extra-amniotic pregnancy may accompany with fibrous band syndrome. We experienced a case of extraamniotic pregnancy with congenital amputation of bilateral fetal hands. And we report it with brief review of literatures.


Asunto(s)
Recién Nacido , Embarazo , Amnios , Síndrome de Bandas Amnióticas , Amputación Quirúrgica , Corion , Mano , Complicaciones del Embarazo , Rotura
7.
Korean Journal of Perinatology ; : 9-12, 2012.
Artículo en Inglés | WPRIM | ID: wpr-143977

RESUMEN

Extra-amniotic pregnancy, which is caused by rupture of amniotic membranes only, is a rare event during pregnancy. This differs from extra-membranous pregnancy in which both chorionic and amniotic membranes rupture. Extra-amniotic pregnancy requires attention by an obstetrician not to miss fetal anomalies because extra-amniotic pregnancy may accompany with fibrous band syndrome. We experienced a case of extraamniotic pregnancy with congenital amputation of bilateral fetal hands. And we report it with brief review of literatures.


Asunto(s)
Recién Nacido , Embarazo , Amnios , Síndrome de Bandas Amnióticas , Amputación Quirúrgica , Corion , Mano , Complicaciones del Embarazo , Rotura
8.
Korean Journal of Gynecologic Endoscopy and Minimally Invasive Surgery ; : 84-88, 2011.
Artículo en Coreano | WPRIM | ID: wpr-212488

RESUMEN

Leiomyoma is the most common benign uterine tumor, but acute torsion of myoma is extremely rare. We experienced two patients admitted to our hospital for acute abdominal pain, who diagnosed with torsion of subserosal myoma. Although ultrasonogram revealed a subserosal myoma in both cases, it could not confirm torsion of uterine fibroid. Laparoscopic surgery confirmed the diagnosis of acute torsion of myoma and resected the lesion successfully.


Asunto(s)
Humanos , Dolor Abdominal , Laparoscopía , Leiomioma , Mioma
9.
Korean Journal of Gynecologic Endoscopy and Minimally Invasive Surgery ; : 89-93, 2011.
Artículo en Coreano | WPRIM | ID: wpr-212487

RESUMEN

The use of laparoscopic surgical techniques is now being applied to a variety of operations traditionally performed in an open fashion. The indication for surgery included polyps, obstruction, bleeding, and perforation. Small bowel perforation was usually treated with open surgery, but now, laparoscopic-guided bowel surgery is technically feasible and should translate into shorter hospitalization and less patient discomfort. Recently, we successfully treated a case of laparoscopic assisted suture of small bowel perforation. Here we report this case with a brief review of literature.


Asunto(s)
Humanos , Hemorragia , Hospitalización , Pólipos , Suturas
10.
Korean Journal of Gynecologic Endoscopy and Minimally Invasive Surgery ; : 14-18, 2011.
Artículo en Coreano | WPRIM | ID: wpr-73428

RESUMEN

OBJECTIVE: The aim of this study was to estimate the feasibility, safety and surgical outcomes of single port access laparoscopic myomectomy (SPA-M). METHODS: We reviewed the medical records of 29 patients with uterine leiomyoma who underwent SPA-M in Gumi CHA hospital between March 2010 and August 2010. We performed SPA-M with conventional rigid straight laparoscopic instruments in all cases. RESULTS: In this study, the mean of leiomyoma weight, operating time, and estimated blood loss were 55.43 gm(+/-54.79, range 5~220 gm), 69.68 min (+/-32.99, range 20~120 min.), 100 mL (+/-104.26 range minimal~300 mL), respectively. Transfusion was done in the one case. CONCLUSION: SPA-M using conventional rigid straight laparoscopic instruments was feasible and could be an alternative to conventional multi-port access laparoscopic myomectomy (MPA-M).


Asunto(s)
Humanos , Leiomioma , Registros Médicos
11.
Korean Journal of Gynecologic Endoscopy and Minimally Invasive Surgery ; : 40-44, 2011.
Artículo en Coreano | WPRIM | ID: wpr-73424

RESUMEN

OBJECTIVE: To evaluate the effectiveness of single preoperative dose of misoprostol to reduce intraoperative hemorrhage during laparoscopic myomectomy. METHODS: We reviewed retrospectively the medical records of 148 patients who underwent laparoscopic myomectomy in Gangnam CHA Medical Center between January 2007 and December 2009 by single surgeon. Among them, 46 patients used preoperative transrectal misoprostol. One hundred two patients underwent laparoscopic myomectomy in conventional method without any preoperative agents. RESULTS: The two groups were similar in baseline characteristics. There was no significant difference in mean blood loss (misoprostol group: 203.3+/-181.8 mL vs. no agent group: 207.7+/-144.5 mL), operation time (misoprostol group: 113.3+/-28.2 min vs. no agent group: 113.4+/-31.5 min), and hemoglobin change (misoprostol group: 2.0+/-1.0 g/dL vs. no agent group: 1.9+/-1.0 g/dL). Two patients needed transfusion in misoprostol group whereas none in control group, but there was no statistical significance. CONCLUSION: A single preoperative dose of transrectal misoprostol cannot reduce bleeding during laparoscopic myomectomy.


Asunto(s)
Humanos , Hemoglobinas , Hemorragia , Registros Médicos , Misoprostol , Estudios Retrospectivos
12.
Journal of Rhinology ; : 35-42, 2011.
Artículo en Coreano | WPRIM | ID: wpr-43497

RESUMEN

BACKGROUND AND OBJECTIVES: The effect of nasal exposure to staphylococcal enterotoxin in the pathogenesis of allergic rhinitis remains controversial. We sought to determine the effect of increasing doses of intranasally applied Staphylococcus aureus enterotoxin B (SEB) on the respiratory mucosa, especially the nasal mucosa. MATERIALS AND METHODS: Nasal application of SEB was performed on four occasions (days 0-4-8-12) in unsensitized BALB/c mice. Control mice were intranasally treated with phosphate buffered saline (PBS), and 5 ng, 50 ng, 500 ng, and 5 microg of SEB was applied to the respective experimental group. The concentrations of IL-4, IL-5, and IFN-gamma in bronchoalveolar lavage fluid (BALF), nasal lavage fluid (NLF) and serum were compared among groups. Also, the counts of total inflammatory cells, macrophages, lymphocytes, neutrophils, eosinophils, and basophils in BALF and NLF were compared among the groups. Pathologic studies for inflammatory cell infiltration in the nasal mucosa and peribronchial area were conducted. RESULTS: IL-4 and IFN-gamma showed higher concentrations with increasing stimulation dose of SEB in NLF and serum. The IL-5 concentration showed a tendency to increase in NLF and serum, but these changes were not statistically significant. Total inflammatory cell count, especially macrophage count, in BALF and NLF was higher with increasing stimulation dose of SEB. Infiltration of inflammatory cells into the nasal mucosa showed a tendency to increase in a dose-dependent manner. CONCLUSION: These results suggest that nasal exposure to SEB may induce Th1 and Th2 inflammatory responses in the respiratory mucosa, especially the nasal mucosa.


Asunto(s)
Animales , Ratones , Basófilos , Líquido del Lavado Bronquioalveolar , Recuento de Células , Enterotoxinas , Eosinófilos , Interleucina-4 , Interleucina-5 , Linfocitos , Macrófagos , Membrana Mucosa , Líquido del Lavado Nasal , Mucosa Nasal , Neutrófilos , Mucosa Respiratoria , Rinitis , Rinitis Alérgica Perenne , Staphylococcus aureus
13.
Korean Journal of Otolaryngology - Head and Neck Surgery ; : 276-278, 2009.
Artículo en Coreano | WPRIM | ID: wpr-656746

RESUMEN

Ectopic thyroid is defined as any thyroid tissues not located in the usual site of the thyroid gland, which is anterolateral to 2-4th tracheal rings in the lower neck. These tissues could be present anywhere along the descending tract of a developing thyroid primordium. It is rare for dual ectopic thyroid to have two ectopic foci simultaneously. Twenty-seven cases of dual ectopic thyroid have been reported in the English literature. Physical examinations are usually performed for oral cavity, oropharynx and anterior neck to test for thyroid function, and CT scanning and thyroid scintigraphy are usually performed for the diagnosis of these entities. We report a 19-year-old male with dual ectopic thyroid tissues in lingual and suprahyoid regions but without thyroid tissue in its normal area.


Asunto(s)
Humanos , Masculino , Adulto Joven , Boca , Cuello , Orofaringe , Examen Físico , Disgenesias Tiroideas , Glándula Tiroides
14.
Korean Journal of Otolaryngology - Head and Neck Surgery ; : 860-863, 2009.
Artículo en Coreano | WPRIM | ID: wpr-651350

RESUMEN

Schwannoma of the larynx is rare. Although it is a benign, slow-growing tumor, it can cause life-threatening laryngeal airway obstruction. Therefore, complete excision is the treatment of choice. Recently, we experienced an unusual case of huge supraglottic schwannoma leading to exertional dyspnea. Therefore, we report this case with a literature review.


Asunto(s)
Obstrucción de las Vías Aéreas , Disnea , Laringe , Neurilemoma
15.
Korean Journal of Otolaryngology - Head and Neck Surgery ; : 1001-1004, 2009.
Artículo en Coreano | WPRIM | ID: wpr-650917

RESUMEN

Fibromatosis is a benign tumor arising from the musculoaponeurotic tissues of the body. The natural history of fibromatosis is slow, progressive growth with invasion of adjacent tissues but this tumor has no malignant or metastatic potential. Complete surgical excision is the mainstay of treatment. However, it is often difficult due to the complex anatomy, close proximity of vital structures in the head and neck region. Preoperative core needle biopsy and MR images can make it possible to diagnose preoperatively and outline the tumor extent, which are very important to treat patients with fibromatosis. In this report, a rare case of fibromatosis occurring in the levator scapulae muscle is presented with a review of literatures.


Asunto(s)
Humanos , Biopsia con Aguja Gruesa , Fibroma , Cabeza , Músculos , Historia Natural , Cuello , Escápula
16.
Korean Journal of Otolaryngology - Head and Neck Surgery ; : 522-524, 2009.
Artículo en Coreano | WPRIM | ID: wpr-653173

RESUMEN

Pneumocephalus is defined as the presence of air within the cranial cavity. Trauma such as automobile accidents, motorcycle accidents, and missile injuries is the most common cause of pneumocephalus. There have previously been four reported cases of pneumocephalus following stab wounds to the neck in the English literature. We present an unusual case of pneumocephalus following a neck stab wound with a review of the literatures.


Asunto(s)
Automóviles , Motocicletas , Cuello , Neumocéfalo , Heridas Punzantes
17.
Journal of Korean Medical Science ; : 951-955, 2009.
Artículo en Inglés | WPRIM | ID: wpr-223632

RESUMEN

This study was designed to assess the effect of inflatable obstetric belts on uterine fundal pressure in the management of the second stage of labor. One hundred twenty-three nulliparas with a singleton cephalic pregnancy at term were randomized. Standard care was performed in the control group, and uterine fundal pressure by the Labor Assister(TM) (Baidy M-420/Curexo, Inc., Seoul, Korea) was utilized in addition to standard care in the active group. The Labor Assister(TM) is an inflatable obstetric belts that synchronized to apply uniform fundal pressure during a uterine contraction. The 62 women in the active group spent less time in the second stage of labor when compared to the 61 women in the control group (41.55+/-30.39 min vs. 62.11+/-35.99 min). There was no significant difference in perinatal outcomes between the two groups. In conclusion, the uterine fundal pressure exerted by the Labor Assistertrade mark reduces the duration of the second stage of labor without attendant complications.


Asunto(s)
Adulto , Femenino , Humanos , Embarazo , Parto Obstétrico/métodos , Segundo Periodo del Trabajo de Parto , Presión , Estudios Prospectivos , Factores de Tiempo , Contracción Uterina
18.
Korean Journal of Blood Transfusion ; : 120-128, 2009.
Artículo en Coreano | WPRIM | ID: wpr-113330

RESUMEN

BACKGROUND: Performing antibody screening and identification tests before blood transfusion are important since unexpected red cell antibodies can cause acute or delayed hemolytic transfusion reactions. We investigated the frequency and distribution of unexpected red cell antibodies that were detected in cancer patients at National Cancer Center (NCC) and we compared our results with the previously published data. METHODS: From January 2001 to June 2009, 56,660 sera of the cases from NCC were screened and 197 sera were identified with using the Ortho BioVue System (Ortho-Clinical Diagnostics, Raritan, USA) and the conventional tube method. In case of the presence of autoantibody, the ZZAP method was performed to distinguish alloantibody from autoantibody. RESULTS: 759 cases (1.34%) showed positive results out of all 56,660 cases that underwent unexpected antibodies screening. Among them, unexpected antibodies were identified in 197 cases. The most frequently detected antibody was anti-Le(a) in 62 cases (31.47%), followed by anti-E in 32 cases (16.24%) and anti-Le(b) in 18 cases (9.14%). Unidentified antibodies were detected in 43 cases (21.83%). In the cases with a previous history of transfusion at the NCC and the screening results were altered from negative to positive, anti-E was the most frequently detected antibody (8/30 cases, 26.67%), and this included the mixed antibodies. CONCLUSION: Compared with the previous reports, this study showed that the frequency and distribution of the unexpected red cell antibodies of cancer patients were not different from those of general patients. Moreover, there was no apparent difference of frequency of the unexpected red cell antibodies among the diagnosed cancers. Our research may provide data for the frequency and characteristics of red cell antibodies because we targeted only cancer patients.


Asunto(s)
Humanos , Anticuerpos , Incompatibilidad de Grupos Sanguíneos , Transfusión Sanguínea , Tamizaje Masivo
19.
Korean Journal of Obstetrics and Gynecology ; : 1218-1222, 2004.
Artículo en Coreano | WPRIM | ID: wpr-36286

RESUMEN

Cervical incompetence is one of the main contributors to repeated pregnancy loss and preterm delivery. Typically it results in progressive cervical dilatation, leading to a painless second or early third trimester abortion. Emergency cerclage can be used in the setting of advanced cervical incompetence, even when fetal membranes bulge through the dilated cervix. To facilitate the procedure, various techniques have been developed to replace the fetal membranes into the uterine cavity. We performed six successful cases of emergency cerclage combined with amnioreduction in advanced incompetent internal os of cervix (IIOC). Interval from emergency cerclage to delivery was 8.1 +/- 2.4 weeks (range 4-10 weeks) and we delivered viable fetuses in all but one. Hereby we report our experiences with a brief review of literature.


Asunto(s)
Femenino , Humanos , Embarazo , Cuello del Útero , Urgencias Médicas , Membranas Extraembrionarias , Feto , Primer Periodo del Trabajo de Parto , Tercer Trimestre del Embarazo
20.
Korean Journal of Perinatology ; : 422-426, 2003.
Artículo en Coreano | WPRIM | ID: wpr-29752

RESUMEN

Sirenomelia, characterised by a complete or incomplete fusion of the lower extremities, is a severe form of caudal defect affecting 1 in 60,000 births. Most cases of sirenomelia die within 5days after birth and are associated with abnormalities such as renal agenesis, urinary tract agenesis, single umbilical artery, etc. Thirdtrimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios whereas the amount of amniotic fluid may be efficient to allow diagnosis in the late first trimester. We report of a case of sirenomelia at 14 weeks of gestation using prenatal transvaginal and transabdominal ultrasonography.


Asunto(s)
Femenino , Humanos , Embarazo , Líquido Amniótico , Diagnóstico , Ectromelia , Extremidad Inferior , Oligohidramnios , Parto , Primer Trimestre del Embarazo , Arteria Umbilical Única , Ultrasonografía , Sistema Urinario
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