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1.
Journal of Genetic Medicine ; : 25-29, 2023.
Article Dans Anglais | WPRIM | ID: wpr-1000927

Résumé

The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case of P450scc deficiency due to a novel homozygous CYP11A1 variant inherited from the mother with a possibility of uniparental disomy (UPD). The patient was a female, had no family history of endocrine disease, and showed adrenal insufficiency at 13 days of age. Hormonal analysis with an adrenocorticotropic hormone stimulation test showed both glucocorticoid and mineralocorticoid deficiencies, presumed to be a defect of the early stage of steroidogenesis. Exome sequencing reported a novel homozygous frameshift variant of CYP11A1 (c.284_285del, p.Asn95Serfs*10), which was inherited from the mother.Additionally, homozygosity in 15q22.31q26.2, which included CYP11A1, was identified using a chromosomal microarray. It was suggested that the possibility of maternal UPD was involved as the cause of a P450scc deficiency by unmasking the maternally derived affected allele. To our understanding, P450scc deficiency associated with UPD encompassing CYP11A1 had not been reported in Korea before. Genetic analysis can help diagnose rare causes of primary adrenal insufficiency, including P450scc deficiency.

2.
Journal of Genetic Medicine ; : 85-93, 2022.
Article Dans Anglais | WPRIM | ID: wpr-967174

Résumé

Purpose@#Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder caused by genetic variants of the cohesin complex. However, the diverse genetic etiologies and their phenotypic correlations in Korean patients with CdLS are still largely unknown. Hence, this study aimed to clarify the clinical characteristics and genetic background of Korean patients with CdLS. @*Materials and Methods@#The medical records of 15 unrelated patients (3 males and 12 females) genetically confirmed to have CdLS were retrospectively reviewed. All individuals were diagnosed with CdLS using target gene analysis, whole-exome sequencing, and/or chromosomal microarray analysis. The clinical score (CS) was calculated to assess disease severity. @*Results@#The median age at diagnosis was 1.7 (range, 0.0-11.8) years, and median follow-up duration was 3.8 (range, 0.4-11.7) years. Eight (53.3%) patients showed classic phenotypes of CdLS, two (13.3%) showed non-classic phenotypes, and five (33.3%) had other phenotypes sharing limited signs of CdLS. Fifteen causative variants were identified: NIPBL in five (33.3%, including 3 males), SMC1A in three (20.0%), SMC3 in three (20.0%), and HDAC8 in four (26.7%) patients. The CS was significantly higher in the NIPBL group than in the non-NIPBL group (14.2±1.3 vs. 8.7±2.9, P<0.001). @*Conclusion@#We identified the clinical and genetic heterogeneity of CdLS in Korean patients. Patients with variants of NIPBL had a more distinctive phenotype than those carrying variants of other cohesin complex genes (SMC1A, SMC3, and HDAC8). However, further studies are warranted to understand the pathogenesis of CdLS as a cohesinopathy and its genotype-phenotype correlations.

3.
Journal of Genetic Medicine ; : 115-119, 2022.
Article Dans Anglais | WPRIM | ID: wpr-967169

Résumé

The 46,XX testicular disorder of sex development (DSD) is a rare condition in which 46,XX individuals develop testicular differentiation and virilization. Translocation of the sex-determining region Y (SRY ) onto the X chromosome is the main cause of 46,XX testicular DSD, whereas dysregulation between pro-testis and pro-ovarian genes can induce SRY-negative 46,XX testicular DSD. Nuclear receptor subfamily 5 group A member 1 (NR5A1), a nuclear receptor transcription factor, plays an essential role in gonadal development in XY and XX embryos. Herein, we report the first Korean case of SRY-negative 46,XX testicular DSD with a heterozygous NR5A1 p.Arg92Trp variant. The patient presented with a small penis, bifid scrotum, and bilateral undescended testes. Whole exome sequencing revealed a heterozygous missense variant (c.274C>T) of NR5A1. Our case highlights that NR5A1 gene variants need to be considered important causative factors of SRY-negative non-syndromic 46,XX testicular DSD.

4.
Annals of Pediatric Endocrinology & Metabolism ; : 134-141, 2022.
Article Dans Anglais | WPRIM | ID: wpr-937166

Résumé

Purpose@#Metabolically healthy overweight/obesity (MHO) and metabolically unhealthy overweight/obesity (MUO) are distinct clinical phenotypes classified by the presence of cardiometabolic risk factors in an individual. In the present study, we investigated temporal trends in the prevalence of MHO in Korean adolescents using nationally representative data. @*Methods@#Data from the Korea National Health and Nutrition Examination Survey 2011–2019 were used in this study. A total of 5,667 adolescents (3,014 boys, 53.2%) aged 10–18 years was included in this study. MHO was defined as a body mass index ≥85th percentile for the corresponding age and sex and absence of any cardiometabolic risk factors. @*Results@#The prevalence of overweight/obesity showed an increasing trend from 18.8% (boys 17.3% and girls 20.6%) in 2011 to 23.7% (boys 24.0% and girls 23.5%) in 2019 (p for trend=0.045). The overall prevalence of MHO during 2011–2019 was 39.2%, which was higher in girls than in boys (boys 33.5%, girls 46.2%, p<0.001), and the change in prevalence of MHO from 2011 to 2019 (from 34.8% to 35.7%) was not significant. Among MUO, the most prevalent cardiometabolic risk factor was dysglycemia (48.8%), followed by elevated blood pressure (41.5%), low high-density lipoprotein cholesterol (35.0%), and high triglycerides (29.7%). @*Conclusion@#We observed a high prevalence of MHO in Korean youth with overweight/obesity. Although the prevalence of overweight/obesity increased, the prevalence of MHO was stable during 2011-2019. A risk-stratified approach based on metabolic health status can help reducing the medical and socioeconomic costs associated with obesity treatment.

5.
Annals of Pediatric Endocrinology & Metabolism ; : 90-97, 2022.
Article Dans Anglais | WPRIM | ID: wpr-937162

Résumé

Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes. Among these, fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia is a relatively common subgroup of skeletal dysplasia. Pediatric endocrinologists may encounter a suspected case of skeletal dysplasia in their practice, especially when evaluating children with short stature. Early and accurate diagnosis of FGFR3-related skeletal dysplasia is essential for timely management of complications and genetic counseling. This review summarizes 5 representative and distinct entities of skeletal dysplasia caused by pathogenic variants in FGFR3 and discusses emerging therapies for FGFR3-related skeletal dysplasias.

6.
Annals of Pediatric Endocrinology & Metabolism ; : 180-186, 2019.
Article Dans Anglais | WPRIM | ID: wpr-762614

Résumé

PURPOSE: The aim of this study was to evaluate the prevalence and risk factors for cardiac autonomic neuropathy (CAN) in nonobese nonobese young type 1 diabetes mellitus (T1DM) patients without micro- or macrovascular complications. METHODS: CAN was assessed in 95 patients with T1DM, aged 18–29 years, using standard cardiovascular reflex tests – heart rate response to deep breathing, standing, and the Valsalva maneuver and blood pressure response to standing. Furthermore, power spectral analyses of overall heart rate variability (HRV), standard deviation of NN intervals (SDNN), and total power (TP) were tested with DiCAN. CAN was defined as abnormal results for at least 1 of the 4 cardiovascular reflex tests. RESULTS: The prevalence of CAN was 12.6%. The frequency of one and 2 abnormal reflex tests was 10.5% and 2.1%, respectively. No significant differences were observed in age, sex, mean hemoglobin A(1c) (HbA(1c)) level, and duration of diabetes with respect to presence of CAN. Patients with CAN exhibited lower overall HRV parameters (SDNN and TP) compared with those without CAN even though there was no statistical significance. In multivariable analyses, higher mean HbA(1c) level was significantly associated with lower overall HRV (β=-44.42, P=0.002 for SDNN and β=-2.82, P<0.001 for TP). CONCLUSION: CAN can be detected in 12.6% of young adult T1DM patients even without other micro- or macrovascular complications. Glycemic control is the main determinant to maintain overall HRV and prevent CAN.


Sujets)
Humains , Jeune adulte , Maladies du système nerveux autonome , Pression sanguine , Diabète de type 1 , Rythme cardiaque , Corée , Prévalence , Réflexe , Réflexes anormaux , Respiration , Facteurs de risque , Manoeuvre de Vasalva
7.
Journal of Korean Medical Science ; : 1633-1641, 2017.
Article Dans Anglais | WPRIM | ID: wpr-16269

Résumé

As the associations between pediatric overweight/obesity and bone health remain controversial, we investigated the effects of overweight/obesity as well as lean mass (LM) and fat mass (FM) on bone parameters in adolescents. Bone parameters were evaluated using dual-energy X-ray absorptiometry (DXA) data of 982 adolescents (aged 12–19 years) from the Korea National Health and Nutrition Examination Survey (2009–2010). Z-scores for LM, FM, bone mass, bone mineral density (BMD), and bone mineral apparent density (BMAD) using Korean pediatric reference values were used for analysis. Adolescents with overweight/obesity had significantly higher bone mass and density of the total-body-less-head (TBLH), lumbar spine, and femur neck than underweight or normal-weight adolescents (P < 0.001) after adjusting for vitamin D deficiency, calcium intake, and insulin resistance in both sexes. LM was positively associated with bone parameters at all skeletal sites in both sexes (P < 0.001). FM was negatively related to TBLH BMD in boys (P = 0.018) but was positively associated to BMD and BMAD of the lumbar spine and femur neck in girls. In conclusion, overweight/obesity and LM play a positive role in bone health in adolescents. The effect of FM on bone parameters is sex- and site-specific.


Sujets)
Adolescent , Femelle , Humains , Absorptiométrie photonique , Composition corporelle , Densité osseuse , Calcium , Col du fémur , Insulinorésistance , Corée , Mineurs (métier) , Enquêtes nutritionnelles , Obésité , Surpoids , Obésité pédiatrique , Valeurs de référence , Rachis , Maigreur , Carence en vitamine D
8.
Annals of Pediatric Endocrinology & Metabolism ; : 247-252, 2017.
Article Dans Anglais | WPRIM | ID: wpr-169580

Résumé

PURPOSE: Vitamin D deficiency is reported to be more common in type 1 diabetes patients and might be associated with the increased urinary loss of vitamin D binding protein (VDBP) consequent to impaired 25-hydroxyvitamin D (25(OH)D) circulation. We aimed to evaluate the possible increased urinary loss of VDBP, a correlation between VDBP and circulating 25(OH)D level, and risk factors influencing low vitamin D level in pediatric type 1 diabetes patients without microalbuminuria. METHODS: This is a cross-sectional study of subjects who visited Seoul National University Children’s Hospital between January and March 2013. Forty-two type 1 diabetes patients and 29 healthy controls were included. Biochemical parameters including serum and urine VDBP concentrations were analyzed. RESULTS: There was no significant difference in the frequency of vitamin D deficiency or serum 25(OH)D level between the 2 groups. The serum and urine VDBP concentrations did not show any difference between the 2 groups. Serum 25(OH) D level did not correlate with serum or urine VDBP. Multivariate regression analysis revealed that daylight outdoor hours (β=2.948, P=0.003) and vitamin D intake (β=2.865, P=0.003) affected the 25(OH)D level; the presence of type 1 diabetes or urinary VDBP excretion was not significant. CONCLUSIONS: In pediatric type 1 diabetes patients, urinary VDBP excretion did not contribute to low serum 25(OH)D level in the setting of normoalbuminuria. The factors associated with 25(OH)D level during winter periods were daylight outdoor hours and vitamin D intake. Further studies including both micro- and macroalbuminuria patients with type 1 diabetes are warranted.


Sujets)
Enfant , Humains , Albuminurie , Études transversales , Diabète de type 1 , Ergocalciférol , Facteurs de risque , Séoul , Vitamine D , Carence en vitamine D , Protéine de liaison à la vitamine D , Vitamines
9.
Journal of Nutrition and Health ; : 457-458, 2015.
Article Dans Anglais | WPRIM | ID: wpr-14024

Résumé

We made a mistake in presenting abstract & figure correction.

10.
Journal of Nutrition and Health ; : 310-318, 2015.
Article Dans Coréen | WPRIM | ID: wpr-10567

Résumé

PURPOSE: The aim of this study is to investigate anti-arthritis activity using natural eggshell membrane (NEM). METHODS: NEM was administered at 52 mg/kg, 200 mg/kg, and 400 mg/kg to SD-Rat, where arthritis was induced by monosodium iodoacetate (MIA) at 3 mg. NO production in serum was measured using Griess reagent. Cytokines including IL-1beta, and IL-6 were measured by Luminex and PGE2, MMP-2, MMP-9, TIMP-1, LTB4, and hs-CRP were measured by ELISA. The cartilage of patella volume was examined and 3-D high-resolution reconstructions of the cartilage of patella were obtained using a Micro-CT system. RESULTS: Production of NO, IL-1beta, IL-6, PGE2, MMP-2, MMP-9, TIMP-1, LTB4, and hs-CRP in serum was decreased, respectively, in comparison with control. The cartilage of patella volume increased significantly. In addition, the NEM group showed a decrease in the cartilage of patella, synovial membrane, and transformation of fibrous tissue. CONCLUSION: The results for NEM showed significant anti-arthritis activity. These results may be developed as a raw material for new health food to ease the symptoms mentioned above.


Sujets)
Animaux , Rats , Arthrite , Cartilage , Cytokines , Dinoprostone , Test ELISA , Nourriture biologique , Interleukine-6 , Leucotriène B4 , Membranes , Arthrose , Patella , Membrane synoviale , Inhibiteur tissulaire de métalloprotéinase-1
11.
Annals of Pediatric Endocrinology & Metabolism ; : 127-134, 2014.
Article Dans Anglais | WPRIM | ID: wpr-16062

Résumé

PURPOSE: Whether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq) play a role in three-year height response to growth hormone (GH) were investigated. METHODS: Paternal (Xp) or maternal (Xm) origin of X chromosome was assessed by microsatellite marker analysis and the presence of hidden Yseq was analyzed. The first-, second-, and third-year GH response was measured as a change in height z-score (Z_Ht) in Turner syndrome (TS) patients with 45,Xp (n=10), 45,Xm (n=15), and 45,X/46,X,+mar(Y) (Xm_Yseq) (n=8). RESULTS: The mean baseline Z_Ht did not differ according to Xp or Xm origin, however the mean baseline Z_Ht was higher in the Xm_Yseq group than in Xm group, after adjusting for bone age delay and midparental Z_Ht (P=0.04). There was no difference in the height response to GH between the 3 groups. The height response to GH decreased progressively each year (P<0.001), such that the third-year increase in Z_Ht was not significant. This third-year decrease in treatment response was unaffected by Xp, Xm, and Xm_Yseq groups. Increasing GH dosage from the second to third-year of treatment positively correlated with the increase in Z_Ht (P=0.017). CONCLUSION: There was no evidence of X-linked imprinted genes and/or Yseq affecting height response to 3 years of GH therapy. Increasing GH dosages may help attenuate the decrease in third-year GH response in TS patients with 45,X and/or 46,X/+mar(Y).


Sujets)
Humains , Empreinte génomique , Hormone de croissance , Répétitions microsatellites , Parents , Syndrome de Turner , Chromosome X , Chromosome Y
12.
Korean Journal of Pediatrics ; : 96-99, 2014.
Article Dans Anglais | WPRIM | ID: wpr-128040

Résumé

Hemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in childhood and is primarily diagnosed in up to 4.5% of children who undergo chronic renal replacement therapy. Escherichia coli serotype O157:H7 is the predominant bacterial strain identified in patients with HUS; more than 100 types of Shiga toxin-producing enterohemorrhagic E. coli (EHEC) subtypes have also been isolated. The typical HUS manifestations are microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency. In typical HUS cases, more serious EHEC manifestations include severe hemorrhagic colitis, bowel necrosis and perforation, rectal prolapse, peritonitis, and intussusceptions. Colonic perforation, which has an incidence of 1%-2%, can be a fatal complication. In this study, we report a typical Shiga toxin-associated HUS case complicated by small intestinal perforation with refractory peritonitis that was possibly because of ischemic enteritis. Although the degree of renal damage is the main concern in HUS, extrarenal complications should also be considered in severe cases, as presented in our case.


Sujets)
Enfant , Humains , Atteinte rénale aigüe , Anémie hémolytique , Colite , Côlon , Entérite , Escherichia coli entérohémorrhagique , Escherichia coli , Syndrome hémolytique et urémique , Incidence , Perforation intestinale , Intussusception , Nécrose , Péritonite , Prolapsus rectal , Insuffisance rénale , Traitement substitutif de l'insuffisance rénale , Shiga-toxine , Thrombopénie
13.
Annals of Pediatric Endocrinology & Metabolism ; : 253-257, 2012.
Article Dans Coréen | WPRIM | ID: wpr-179890

Résumé

There have been few reports of concomitant moyamoya disease (MMD) with type 1 diabetes mellitus. We report a case of MMD associated with type 1 diabetes mellitus in a 9-year-old boy who presented with altered mentality and left side motor weakness. Laboratory test results indicated diabetic ketoacidosis (DKA), but his stuporous mental state and hemiparesis persisted despite DKA management. Brain magnetic resonance imaging revealed multiple cerebral infarcts and stenosis of cerebral arteries with basal collateral vessels, suggesting MMD. After management of DKA and successive surgery for MMD, his hemiparesis improved without further ischemic attacks. Although rare, the possibility of comcomitant MMD should be considered in a type 1 diabetes mellitus patient with neurologic symptoms and cerebral infarction.


Sujets)
Enfant , Humains , Encéphale , Encéphalopathie ischémique , Artères cérébrales , Infarctus cérébral , Sténose pathologique , Diabète de type 1 , Acidocétose diabétique , Imagerie par résonance magnétique , Maladie de Moya-Moya , Manifestations neurologiques , Parésie , État de stupeur
14.
Annals of Pediatric Endocrinology & Metabolism ; : 82-91, 2012.
Article Dans Coréen | WPRIM | ID: wpr-138753

Résumé

PURPOSE: Our purpose was to evaluate the clinical presentations at diagnosis and treatment outcomes of functional pituitary adenoma (PA) and nonfunctional PAs (NFPA) in childhood and adolescence. METHODS: We performed a retrospective review of the medical records of patients diagnosed with PA before 18 years of age. RESULTS: The mean age at diagnosis of 24 patients (9 males, 15 females) was 12.3 years, and the mean follow-up period was 4.5 years. PAs were categorized as follows: prolactinoma (n=7, 29.2%), adrenocorticotropic hormone secreting adenomas (n=4, 16.7%), growth hormone secreting adenomas (n=3, 12.5%), and NFPAs (n=10, 41.7%). The proportion of macroadenoma (n=13, 54.2%) was similar to that of microadenoma (n=11, 45.8%). Sixteen patients (66.7%) who were diagnosed with functional PA (including all prolactinomas), and two NFPAs underwent surgery due to mass effects. The patients who received surgery had a higher risk for hypopituitarism than those who did not (75.0% vs. 12.5%; P =0.008). Recurrence occurred in five patients, all of whom had residual tumors after surgery for macroadenoma. The degree of obesity at latest follow-up was associated with that at diagnosis (P <0.001). CONCLUSION: The prevalence of NFPAs was higher than that of previous reports, which was explained by higher detection of incidentalomas. Prolactinoma was the most common functional PA. Thorough investigation of symptoms related to hormone excess and hormone profiles is important for differential diagnosis and decision regarding treatment plan. Additionally, the regular follow up for relapse and endocrine deficit is mandatory in patients with PA, especially those who had received pituitary surgery.


Sujets)
Adolescent , Enfant , Humains , Mâle , Adénomes , Hormone corticotrope , Diagnostic différentiel , Études de suivi , Hormone de croissance , Hypopituitarisme , Dossiers médicaux , Maladie résiduelle , Obésité , Tumeurs de l'hypophyse , Prévalence , Prolactinome , Récidive , Études rétrospectives
15.
Annals of Pediatric Endocrinology & Metabolism ; : 82-91, 2012.
Article Dans Coréen | WPRIM | ID: wpr-138752

Résumé

PURPOSE: Our purpose was to evaluate the clinical presentations at diagnosis and treatment outcomes of functional pituitary adenoma (PA) and nonfunctional PAs (NFPA) in childhood and adolescence. METHODS: We performed a retrospective review of the medical records of patients diagnosed with PA before 18 years of age. RESULTS: The mean age at diagnosis of 24 patients (9 males, 15 females) was 12.3 years, and the mean follow-up period was 4.5 years. PAs were categorized as follows: prolactinoma (n=7, 29.2%), adrenocorticotropic hormone secreting adenomas (n=4, 16.7%), growth hormone secreting adenomas (n=3, 12.5%), and NFPAs (n=10, 41.7%). The proportion of macroadenoma (n=13, 54.2%) was similar to that of microadenoma (n=11, 45.8%). Sixteen patients (66.7%) who were diagnosed with functional PA (including all prolactinomas), and two NFPAs underwent surgery due to mass effects. The patients who received surgery had a higher risk for hypopituitarism than those who did not (75.0% vs. 12.5%; P =0.008). Recurrence occurred in five patients, all of whom had residual tumors after surgery for macroadenoma. The degree of obesity at latest follow-up was associated with that at diagnosis (P <0.001). CONCLUSION: The prevalence of NFPAs was higher than that of previous reports, which was explained by higher detection of incidentalomas. Prolactinoma was the most common functional PA. Thorough investigation of symptoms related to hormone excess and hormone profiles is important for differential diagnosis and decision regarding treatment plan. Additionally, the regular follow up for relapse and endocrine deficit is mandatory in patients with PA, especially those who had received pituitary surgery.


Sujets)
Adolescent , Enfant , Humains , Mâle , Adénomes , Hormone corticotrope , Diagnostic différentiel , Études de suivi , Hormone de croissance , Hypopituitarisme , Dossiers médicaux , Maladie résiduelle , Obésité , Tumeurs de l'hypophyse , Prévalence , Prolactinome , Récidive , Études rétrospectives
16.
Journal of Korean Academy of Nursing Administration ; : 413-422, 2011.
Article Dans Coréen | WPRIM | ID: wpr-43169

Résumé

PURPOSE: This descriptive correlation study was done to identify how perception of patient safety culture of general hospital nurses affects safety during nursing activities. Data from this study should provide information on management of patient safety as well as improvement in patient safety. METHOD: Participants in this study were 357 clinical nurses working in a general hospital in M city which had two medical evaluations. A survey was conducted to gather the data. RESULTS: The score for perception of patient safety culture of the general hospital nurses was 3.42, out of a possible 5 points, and the score for safety care activities was 3.90. There was a statistically significant positive relationship between the nurses' perception of patient safety culture and their safety care activities, Perception of patient safety culture, Supervisor/manager, communication and procedures, and frequency of accident reporting were factors that impacted significantly on safety nursing activity. CONCLUSION: The results of the study indicate that patient safety cultural perception significantly affects the safety of nursing activities and thus systematic educational strategies to increase perception should be provided to increase the level of patient safety culture. Also, other specific methods that increase the level of patient safety culture should be considered.


Sujets)
Humains , Hôpitaux généraux , Sécurité des patients , Gestion de la sécurité , Statistiques comme sujet
17.
The Korean Journal of Laboratory Medicine ; : 290-293, 2011.
Article Dans Anglais | WPRIM | ID: wpr-19302

Résumé

Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of bleeding in FXI deficiency cases is variable and seems to poorly correlate with plasma FXI levels. The molecular pathology of FXI deficiency is mutation in the F11 gene on the chromosome band 4q35. We report a novel mutation of the F11 gene in an 18-year-old asymptomatic Korean woman with mild FXI deficiency. Pre-operative laboratory screen tests for lipoma on her back revealed slightly prolonged activated partial thromboplastin time (45.2 sec; reference range, 23.2-39.4 sec). Her FXI activity (35%) was slightly lower than the normal FXI activity (reference range, 50-150%). Direct sequence analysis of the F11 gene revealed a heterozygous A to G substitution in nucleotide 1517 (c.1517A>G) of exon 13, resulting in the substitution of aspartic acid with glycine in codon 506 (p.Asp506Gly). To the best of our knowledge, the Asp506Gly is a novel missense mutation, and this is the first genetically confirmed case of mild FXI deficiency in Korea.


Sujets)
Adolescent , Femelle , Humains , Substitution d'acide aminé , Asiatiques/génétique , Séquence nucléotidique , Chromosomes humains de la paire 4 , Exons , Déficit en facteur XI/sang , Hétérozygote , Données de séquences moléculaires , Mutation faux-sens , Structure tertiaire des protéines , République de Corée , Analyse de séquence d'ADN
18.
Korean Journal of Perinatology ; : 391-398, 2007.
Article Dans Coréen | WPRIM | ID: wpr-182381

Résumé

PURPOSE:The purpose of this study is to evaluate the ultrasonographic finding and clinical course of fetal ovarian cysts. METHODS:A retrospective study of 11 cases of fetal ovarian cysts, evaluated by prenatal and postnatal ultrasonographic studies was conducted. We analyzed the demographic factors, the ultrasonographic findings, the change of ultrasonographic parameters, the mode of delivery, the management of ovarian cysts and pathologic finding. RESULTS:In all cases, fetal ovarian cysts were unilateral simple cysts at the time of diagnosis. The mean sizes of the ovarian cysts were 29.7 mm on prenatal and 19.8 mm on postnatal studies. In four of the 11 cases, the ultrasonographic patterns of cysts changed from simple to complicated cysts on serial monitorng, and one of them required postnatal surgery. Ten of 11 cases were spontaneously resolved during perinatal follow-up ultrasound. CONCLUSION:We recommend continuous ultrasonographic assessment of antenatally diagnosed ovarian cysts, which is helpful to predict the outcome of cysts and decide on the management.


Sujets)
Femelle , Démographie , Diagnostic , Études de suivi , Kystes de l'ovaire , Diagnostic prénatal , Études rétrospectives , Échographie
19.
Journal of the Korean Radiological Society ; : 203-206, 2007.
Article Dans Coréen | WPRIM | ID: wpr-221789

Résumé

Apocrine carcinoma is a rare breast cancer and its frequency is about 0.4% of all breast cancers. Little is known about its clinical behavior and prognosis. To our knowledge, few studies have reported the radiologic appearances of apocrine carcinoma in the breast and there has been no such report from Korea. We describe the sonographic findings of a case of apocrine carcinoma in the breast. The sonographic findings are microlobulated heterogeneous hypoechoic lesion that has a central markedly hypoechoic portion and a peripheral mixture of iso and hypoechgenecity.


Sujets)
Glandes apocrines , Tumeurs du sein , Région mammaire , Corée , Pronostic , Échographie
20.
Korean Journal of Community Nutrition ; : 216-223, 2005.
Article Dans Coréen | WPRIM | ID: wpr-68280

Résumé

This purpose of this study was to investigate the nutrient intake, the health status as determined self-assessment checklist, biochemical indicators of elderly Korean women. We interviewed and 55 female subjects living alone in the Urban aged over 65 years. Information on their dietary intake was collected by 24-hour Recall method. Their health status was determined by a NSI checklist. Biochemical indicators were performed in whole blood and plasma of subjects. Except for protein, Fe, all of the elderly subjects belonged to over moderate nutritional risk. The average daily nutrient intake of the elderly was below the level of the recommended dietary allowances (RDA) for Koreans. A relationship between their health risk score and nutrient intake was observed negatively (not significantly). They had a risk of anemia as hemoglobin and hematocrit of subjects were under the normal value. Therefore, the reason that health risk score and health status badly was thought for lower nutrient intake.


Sujets)
Sujet âgé , Femelle , Humains , Anémie , Liste de contrôle , Hématocrite , Plasma sanguin , Apports nutritionnels recommandés , Valeurs de référence , Facteurs de risque , Auto-évaluation (psychologie)
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