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1.
Journal of Korean Neurosurgical Society ; : 316-323, 2023.
Article in English | WPRIM | ID: wpr-976893

ABSTRACT

Objective@#: Owing to advances in critical care treatment, the overall survival rate of preterm infants born at a gestational age (GA) 7 days after birth) for infants with severe IVH significantly improved over time, decreasing from 39.1% in phase I to 14.3% in phase II (p=0.043). A history of hypotension treated with vasoactive medication within 1 week after birth (adjusted odds ratio, 7.39; p=0.025) was found to be an independent risk factor for mortality. When comparing major morbidities of surviving infants, those in phase II were significantly more likely to have undergone surgery for necrotizing enterocolitis (NEC) (29.2% vs. 0.0%; p=0.027). Additionally, rates of late-onset sepsis (45.8% vs. 14.3%; p=0.049) and central nervous system infection (25.0% vs. 0.0%; p=0.049) were significantly higher in phase II survivors than in phase I survivors. @*Conclusion@#: In-hospital mortality in preterm infants with severe IVH decreased over the last decade, whereas major neonatal morbidities increased, particularly surgical NEC and sepsis. This study suggests the importance of multidisciplinary specialized medical and surgical neonatal intensive care in preterm infants with severe IVH.

2.
Journal of Korean Academy of Oral Health ; : 179-183, 2022.
Article in English | WPRIM | ID: wpr-967318

ABSTRACT

Objectives@#As COVID-19 continued to spread in the local community due to influx, each university had to conduct online classes completely or partially. The purpose of this study was to investigate the satisfaction of learners with the lecture content in online classes, due to the change of the class environment during the pandemic. A survey for assessing satisfaction from online class in major subjects was conducted. @*Methods@#Online questionnaires were conducted from September 1 to November 30, 2022, targeting 1st, 2nd, 3rd, and 4th year students in the Department of Dental Hygiene at college. @*Results@#As a result of the study: 1. PPT+face, voice recording class-class method with class content was found to be a high 4.06±0.841 points and learning satisfaction was found to be an average of 3.98±0.83 (P<0.015); the other satisfaction: 2. PPT+voice recording class (LMS): 3.96±0.85, 3. Non-face-to-face online class (ZOOM): 3.82±0.89, and 4. LMS system: 3.98±0.88. I think that satisfaction with online classes can be improved with the quality of the content during major online classes in addition to more active interactions taking place between students and professors. @*Conclusions@#1. Learning satisfaction: 1) ZOOM: 3.82±0.89, 2) LMS (PPT-voice recording): 3.96± 0.85, and 3) LMS (PPT-face+voice recording): 4.06±0.84; 2. LMS Online System Convenience: 4.05 ±0.84

3.
Kidney Research and Clinical Practice ; : 102-113, 2022.
Article in English | WPRIM | ID: wpr-926503

ABSTRACT

Long-term outcomes of live kidney donors remain controversial, although this information is crucial for selecting potential donors. Thus, this study compared the long-term risk of all-cause mortality between live kidney donors and healthy control. Methods: We performed a retrospective cohort study including donors from seven tertiary hospitals in South Korea. Persons who underwent voluntary health screening were included as controls. We created a matched control group considering age, sex, era, body mass index, baseline hypertension, diabetes, estimated glomerular filtration rate, and dipstick albuminuria. The study outcome was progression to end-stage kidney disease (ESKD), and all-cause mortality as identified in the linked claims database. Results: We screened 1,878 kidney donors and 78,115 health screening examinees from 2003 to 2016. After matching, 1,701 persons remained in each group. The median age of the matched study subjects was 44 years, and 46.6% were male. Among the study subjects, 2.7% and 16.6% had underlying diabetes and hypertension, respectively. There were no ESKD events in the matched donor and control groups. There were 24 (1.4%) and 12 mortality cases (0.7%) in the matched donor and control groups, respectively. In the age-sex adjusted model, the risk for all-cause mortality was significantly higher in the donor group than in the control group. However, the significance was not retained after socioeconomic status was included as a covariate (adjusted hazard ratio, 1.82; 95% confidence interval, 0.87–3.80). Conclusion: All-cause mortality was similar in live kidney donors and matched non-donor healthy controls with similar health status and socioeconomic status in the Korean population.

4.
Journal of Menopausal Medicine ; : 25-32, 2022.
Article in English | WPRIM | ID: wpr-926073

ABSTRACT

Objectives@#A retrospective cohort study was conducted to evaluate the effects of combination oral contraceptives (COCs) on bone mineral density (BMD) and metabolism in perimenopausal Korean women. @*Methods@#The study subjects comprised two groups. The COC group included 55 women who took low-dose COC for at least one year to control vasomotor symptoms. Another 55 women who had annual checkups without history of COC use served as controls. BMD and bone turnover markers were assessed periodically. @*Results@#In the control group, 12-month BMD values at the lumbar spine (LS) and total hip (TH) significantly decreased with a greater magnitude at LS, and bone resorption (BR) and formation (BF) markers increased concurrently with a larger change in BR. COCs increased BMD at LS after 12 months and prevented BMD decline at TH. Multivariable linear regression revealed a significant difference in LS BMD between groups at 12 months. In the COC group, there were significant negative correlations between baseline BMD and Z-score at LS and corresponding changes at 12 months. COCs did not alter BR markers, whereas BF markers were significantly decreased at 3 months. Group comparison at 12 months, as tested with adjusted linear regression, disclosed significant differences in both BR and BF makers. @*Conclusions@#Bone loss associated with activated bone turnover is evident during the menopausal transition, and COCs might prevent BMD decrease and suppress bone turnover markers in perimenopausal Korean women. Significant increase in LS BMD and decreases in BF makers suggest underlying mechanisms of greater impact on BF.

5.
Kidney Research and Clinical Practice ; : 645-659, 2021.
Article in English | WPRIM | ID: wpr-917044

ABSTRACT

Background@#Considering the growing prevalence of Western lifestyles and related chronic diseases occurring in South Korea, this study aimed to explore the progression of metabolic risk factors in living kidney donors compared to a control group. @*Methods@#This study enrolled living kidney donors from seven hospitals from 1982 to 2016. The controls were individuals that voluntarily received health check-ups from 1995 to 2016 that were matched with donors according to age, sex, diabetes status, baseline estimated glomerular filtration rate, and date of the medical record. Data on hyperuricemia, hypertension, hypercholesterolemia, and overweight/obesity were collected to determine metabolic risks. The proportion of individuals with three or more metabolic risk factors was evaluated. Logistic regressions with interaction terms between the medical record date and donor status were used to compare the trends in metabolic risks over time in the two groups. @*Results@#A total of 2,018 living kidney donors and matched non-donors were included. The median age was 44.0 years (interquartile range, 34.0–51.0 years) and 54% were women. The living kidney donors showed a lower absolute prevalence for all metabolic risk factors, except for those that were overweight/obese, than the non-donors. The proportion of subjects that were overweight/obese was consistently higher over time in the donor group. The changes over time in the prevalence of each metabolic risk were not significantly different between groups, except for a lower prevalence of metabolic risk factors ≥ 3 in donors. @*Conclusion@#Over time, metabolic risks in living kidney donors are generally the same as in non-donors, except for a lower prevalence of metabolic risk factors ≥ 3 in donors.

6.
Endocrinology and Metabolism ; : 1131-1141, 2021.
Article in English | WPRIM | ID: wpr-914257

ABSTRACT

Background@#Conventional diagnostic approaches for adrenal tumors require multi-step processes, including imaging studies and dynamic hormone tests. Therefore, this study aimed to discriminate adrenal tumors from a single blood sample based on the combination of liquid chromatography-mass spectrometry (LC-MS) and machine learning algorithms in serum profiling of adrenal steroids. @*Methods@#The LC-MS-based steroid profiling was applied to serum samples obtained from patients with nonfunctioning adenoma (NFA, n=73), Cushing’s syndrome (CS, n=30), and primary aldosteronism (PA, n=40) in a prospective multicenter study of adrenal disease. The decision tree (DT), random forest (RF), and extreme gradient boost (XGBoost) were performed to categorize the subtypes of adrenal tumors. @*Results@#The CS group showed higher serum levels of 11-deoxycortisol than the NFA group, and increased levels of tetrahydrocortisone (THE), 20α-dihydrocortisol, and 6β-hydroxycortisol were found in the PA group. However, the CS group showed lower levels of dehydroepiandrosterone (DHEA) and its sulfate derivative (DHEA-S) than both the NFA and PA groups. Patients with PA expressed higher serum 18-hydroxycortisol and DHEA but lower THE than NFA patients. The balanced accuracies of DT, RF, and XGBoost for classifying each type were 78%, 96%, and 97%, respectively. In receiver operating characteristics (ROC) analysis for CS, XGBoost, and RF showed a significantly greater diagnostic power than the DT. However, in ROC analysis for PA, only RF exhibited better diagnostic performance than DT. @*Conclusion@#The combination of LC-MS-based steroid profiling with machine learning algorithms could be a promising one-step diagnostic approach for the classification of adrenal tumor subtypes.

7.
Journal of Genetic Medicine ; : 8-15, 2021.
Article in English | WPRIM | ID: wpr-899335

ABSTRACT

Recent genetic advances allow for identification of the genetic etiologies of epilepsy within individual patients earlier and more frequently than ever. Specific targeted treatments have emerged from improvements in understanding of the underlying epileptogenic pathophysiology. These targeted treatment strategies include modifications of ion channels or other cellular receptors and their function, mechanistic target of rapamycin signaling pathways, and substitutive therapies in hereditary metabolic epilepsies. In this review, we explore targeted treatments based on underlying pathophysiologic mechanisms in specific genetic epilepsies.

8.
Endocrinology and Metabolism ; : 574-581, 2021.
Article in English | WPRIM | ID: wpr-898233

ABSTRACT

Background@#Postoperative thyroid stimulating hormone (TSH) suppression therapy is recommended for patients with intermediate- and high-risk differentiated thyroid cancer to prevent the recurrence of thyroid cancer. With the recent increase in small thyroid cancer cases, the extent of resection during surgery has generally decreased. Therefore, questions have been raised about the efficacy and long-term side effects of TSH suppression therapy in patients who have undergone a lobectomy. @*Methods@#This is a multicenter, prospective, randomized, controlled clinical trial in which 2,986 patients with papillary thyroid cancer are randomized into a high-TSH group (intervention) and a low-TSH group (control) after having undergone a lobectomy. The principle of treatment includes a TSH-lowering regimen aimed at TSH levels between 0.3 and 1.99 μIU/mL in the low-TSH group. The high-TSH group targets TSH levels between 2.0 and 7.99 μIU/mL. The dose of levothyroxine will be adjusted at each visit to maintain the target TSH level. The primary outcome is recurrence-free survival, as assessed by neck ultrasound every 6 to 12 months. Secondary endpoints include disease-free survival, overall survival, success rate in reaching the TSH target range, the proportion of patients with major cardiovascular diseases or bone metabolic disease, the quality of life, and medical costs. The follow-up period is 5 years. @*Conclusion@#The results of this trial will contribute to establishing the optimal indication for TSH suppression therapy in low-risk papillary thyroid cancer patients by evaluating the benefit and harm of lowering TSH levels in terms of recurrence, metabolic complications, costs, and quality of life.

9.
Journal of Genetic Medicine ; : 8-15, 2021.
Article in English | WPRIM | ID: wpr-891631

ABSTRACT

Recent genetic advances allow for identification of the genetic etiologies of epilepsy within individual patients earlier and more frequently than ever. Specific targeted treatments have emerged from improvements in understanding of the underlying epileptogenic pathophysiology. These targeted treatment strategies include modifications of ion channels or other cellular receptors and their function, mechanistic target of rapamycin signaling pathways, and substitutive therapies in hereditary metabolic epilepsies. In this review, we explore targeted treatments based on underlying pathophysiologic mechanisms in specific genetic epilepsies.

10.
Endocrinology and Metabolism ; : 574-581, 2021.
Article in English | WPRIM | ID: wpr-890529

ABSTRACT

Background@#Postoperative thyroid stimulating hormone (TSH) suppression therapy is recommended for patients with intermediate- and high-risk differentiated thyroid cancer to prevent the recurrence of thyroid cancer. With the recent increase in small thyroid cancer cases, the extent of resection during surgery has generally decreased. Therefore, questions have been raised about the efficacy and long-term side effects of TSH suppression therapy in patients who have undergone a lobectomy. @*Methods@#This is a multicenter, prospective, randomized, controlled clinical trial in which 2,986 patients with papillary thyroid cancer are randomized into a high-TSH group (intervention) and a low-TSH group (control) after having undergone a lobectomy. The principle of treatment includes a TSH-lowering regimen aimed at TSH levels between 0.3 and 1.99 μIU/mL in the low-TSH group. The high-TSH group targets TSH levels between 2.0 and 7.99 μIU/mL. The dose of levothyroxine will be adjusted at each visit to maintain the target TSH level. The primary outcome is recurrence-free survival, as assessed by neck ultrasound every 6 to 12 months. Secondary endpoints include disease-free survival, overall survival, success rate in reaching the TSH target range, the proportion of patients with major cardiovascular diseases or bone metabolic disease, the quality of life, and medical costs. The follow-up period is 5 years. @*Conclusion@#The results of this trial will contribute to establishing the optimal indication for TSH suppression therapy in low-risk papillary thyroid cancer patients by evaluating the benefit and harm of lowering TSH levels in terms of recurrence, metabolic complications, costs, and quality of life.

11.
Journal of Audiology & Otology ; : 180-190, 2020.
Article | WPRIM | ID: wpr-835571

ABSTRACT

Background and Objectives@#Although many studies have evaluated the effect of the digital noise reduction (DNR) algorithm of hearing aids (HAs) on speech recognition, there are few studies on the effect of DNR on music perception. Therefore, we aimed to evaluate the effect of DNR on music, in addition to speech perception, using objective and subjective measurements. @*Subjects and Methods@#Sixteen HA users participated in this study (58.00±10.44 years; 3 males and 13 females). The objective assessment of speech and music perception was based on the Korean version of the Clinical Assessment of Music Perception test and word and sentence recognition scores. Meanwhile, for the subjective assessment, the quality rating of speech and music as well as self-reported HA benefits were evaluated. @*Results@#There was no improvement conferred with DNR of HAs on the objective assessment tests of speech and music perception. The pitch discrimination at 262 Hz in the DNR-off condition was better than that in the unaided condition (p=0.024); however, the unaided condition and the DNR-on conditions did not differ. In the Korean music background questionnaire, responses regarding ease of communication were better in the DNR-on condition than in the DNR-off condition (p=0.029). @*Conclusions@#Speech and music perception or sound quality did not improve with the activation of DNR. However, DNR positively influenced the listener’s subjective listening comfort. The DNR-off condition in HAs may be beneficial for pitch discrimination at some frequencies.

12.
Journal of the Korean Ophthalmological Society ; : 486-490, 2019.
Article in Korean | WPRIM | ID: wpr-738626

ABSTRACT

PURPOSE: To report a case of bilateral posterior subcapsular cataract after taking oxcarbazepine (Trileptal®, Novartis, Basel, Swiss). CASE SUMMARY: A 19-year-old female visited our clinic with decreased vision in both eyes. Her best-corrected visual acuity was 0.3 in the right eye and 0.5 in the left eye, and slit-lamp examination revealed a bilateral cortical opacity and subcapsular cataract. She had been taking oxcarbazepine for epilepsy for 10 years, which was discontinued 3 years ago. Her mother had undergone cataract surgeries when she was approximately 46 years of age. No other risk factors for cataract were present. CONCLUSIONS: In the present case, bilateral cortical opacity and subcapsular cataract were assumed to be associated with the use of oxcarbazepine. We suggest that oxcarbazepine could induce a cataract and recommend a regular follow-up by a qualified ophthalmologist.


Subject(s)
Female , Humans , Young Adult , Cataract , Epilepsy , Follow-Up Studies , Mothers , Risk Factors , Visual Acuity
13.
Journal of Korean Medical Science ; : e268-2018.
Article in English | WPRIM | ID: wpr-717598

ABSTRACT

BACKGROUND: We aimed to compare the therapeutic efficacy of prolonged macrolide (PMC), corticosteroids (CST), doxycycline (DXC), and levofloxacin (LFX) against macrolide-unresponsive Mycoplasma pneumoniae (MP) pneumonia in children and to evaluate the safety of the secondary treatment agents. METHODS: We retrospectively analyzed the data of patients with MP pneumonia hospitalized between January 2015 and April 2017. Macrolide-unresponsiveness was clinically defined with a persistent fever of ≥ 38.0°C at ≥ 72 hours after macrolide treatment. The cases were divided into four groups: PMC, CST, DXC, and LFX. We compared the time to defervescence (TTD) after secondary treatment and the TTD after initial macrolide treatment in each group with adjustment using propensity score-matching analysis. RESULTS: Among 1,165 cases of MP pneumonia, 190 (16.3%) were unresponsive to macrolides. The proportion of patients who achieved defervescence within 48 hours in CST, DXC, and LFX groups were 96.9% (31/33), 85.7% (12/14), and 83.3% (5/6), respectively. The TTD after initial macrolide treatment did not differ between PMC and CST groups (5.1 vs. 4.2 days, P = 0.085), PMC and DXC groups (4.9 vs. 5.7 days, P = 0.453), and PMC and LFX groups (4.4 vs. 5.0 days, P = 0.283). No side effects were observed in the CST, DXC, and LFX groups. CONCLUSION: The change to secondary treatment did not show better efficacy compared to PMC in children with macrolide-unresponsive MP pneumonia. Further studies are needed to guide appropriate treatment in children with MP pneumonia.


Subject(s)
Child , Humans , Adrenal Cortex Hormones , Anti-Bacterial Agents , Doxycycline , Fever , Levofloxacin , Macrolides , Mycoplasma pneumoniae , Mycoplasma , Pneumonia , Pneumonia, Mycoplasma , Retrospective Studies
14.
Yonsei Medical Journal ; : 431-437, 2018.
Article in English | WPRIM | ID: wpr-714666

ABSTRACT

PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. RESULTS: All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. CONCLUSION: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.


Subject(s)
Humans , Epilepsy , Intellectual Disability
15.
Journal of the Korean Child Neurology Society ; (4): 240-245, 2018.
Article in English | WPRIM | ID: wpr-728814

ABSTRACT

PURPOSE: Early prediction of prognosis of children resuscitated from cardiac arrest is a major challenge. We investigated the utility of electroencephalography (EEG) and laboratory studies for predicting of neurologic outcome in children resuscitated from cardiac arrest. METHODS: We retrospectively analyzed medical records of patients who were resuscitated from cardiac arrest from 2006 to 2015 at the Gil Medical Center. Patients aged one month to 18 years were included. EEG analysis included background scoring, reactivity and seizure burden. EEG background was classified score 0 (normal/organized), score 1 (slow and disorganized), score 2 (discontinuous or burst suppression), and score 3 (suppressed and featureless). Neurologic outcome was evaluated by Pediatric Cerebral Performance Category (PCPC) at least 6 months after cardiac arrest. RESULTS: Total 26 patients were evaluated. Nine patients showed good neurologic outcome (PCPC 1, 2, 3) and 17 patients showed poor neurologic outcome (PCPC 4, 5, 6). Patients of poor neurologic outcome group showed EEG background score 3 in 88.2%, whereas 44.4% in patients of good neurologic outcome group (P=0.028). Electrographic ictal discharges except non-convulsive status epilepticus were presented in 44.4% of good neurologic outcome group and 5.9% of poor neurologic outcome group (P=0.034). Ammonia and lactate levels were higher and pH levels were lower in poor outcome group than good neurologic outcome group. CONCLUSION: Suppressed and featureless EEG background is associated with poor neurologic outcome and electrographic seizures are associated with good neurologic outcome.


Subject(s)
Child , Humans , Ammonia , Electroencephalography , Heart Arrest , Hydrogen-Ion Concentration , Lactic Acid , Medical Records , Prognosis , Retrospective Studies , Seizures , Status Epilepticus
16.
Cancer Research and Treatment ; : 29-36, 2017.
Article in English | WPRIM | ID: wpr-6997

ABSTRACT

PURPOSE: Metformin is associated with an anticancer effect. However, the effects of metformin in rectal cancer are controversial. This study investigated the impact of metformin on the survival of patients with diabetes mellitus and nonmetastatic rectal cancer who underwent curative surgery. MATERIALS AND METHODS: The database was provided by the Korea Center Cancer Registry and National Health Insurance Service of the Republic of Korea. A cohort of patients with newly diagnosed rectal cancer between 2005 and 2011 was identified. Drug exposure was defined as receiving the oral hypoglycemic agent for at least 90 days over the period from 6 months before the initial diagnosis of rectal cancer to the last follow-up. RESULTS: A total of 4,503 patients were prescribed oral hypoglycemic agents and classified as the diabetic group, of which 3,694 patients received metformin for at least 90 days. Unadjusted analyses showed a significantly higher overall survival (hazard ratio, 0.596; 95% confidence interval, 0.506 to 0.702) and rectal cancer-specific survival (hazard ratio, 0.621; 95% confidence interval, 0.507 to 0.760) in the metformin group than in the nonmetformin group. The adjusted overall survival (hazard ratio, 0.631; 95% confidence interval, 0.527 to 0.755) and cancer-specific survival (hazard ratio, 0.598; 95% confidence interval, 0.479 to 0.746) in the group with a medication possession ratio of 80% or greater was significantly higher than in the group with a medication possession ratio of less than 80%. CONCLUSION: Metformin use is associated with overall and cancer-specific survival in diabetic patients with a nonmetastatic rectal cancer treated with a curative resection.


Subject(s)
Humans , Cohort Studies , Colorectal Surgery , Diabetes Mellitus , Diagnosis , Follow-Up Studies , Hypoglycemic Agents , Korea , Metformin , National Health Programs , Rectal Neoplasms , Republic of Korea
17.
Journal of Cancer Prevention ; : 6-15, 2017.
Article in English | WPRIM | ID: wpr-185784

ABSTRACT

Air pollution is getting severe and concerns about its toxicity effects on airway and lung disease are also increasing. Particulate matter (PM) is major component of air pollutant. It causes respiratory diseases, such as asthma, chronic obstructive pulmonary disease, lung cancer, and so on. PM particles enter the airway and lung by inhalation, causing damages to them. Especially, PM2.5 can penetrate into the alveolus and pass to the systemic circulation. It can affect the cardiopulmonary system and cause cardiopulmonary disorders. In this review, we focused on PM-inducing toxicity mechanisms in the framework of oxidative stress, inflammation, and epigenetic changes. We also reviewed its correlation with respiratory diseases. In addition, we reviewed biomarkers related to PM-induced respiratory diseases. These biomarkers might be used for disease prediction and early diagnosis. With recent trend of using genomic analysis tools in the field of toxicogenomics, respiratory disease biomarkers associated with PM will be continuously investigated. Effective biomarkers derived from earlier studies and further studies might be utilized to reduce respiratory diseases.


Subject(s)
Air Pollution , Asthma , Biomarkers , Early Diagnosis , Epigenomics , Inflammation , Inhalation , Lung , Lung Diseases , Lung Neoplasms , Oxidative Stress , Particulate Matter , Pulmonary Disease, Chronic Obstructive , Toxicogenetics
18.
Korean Journal of Pediatrics ; : S19-S24, 2016.
Article in English | WPRIM | ID: wpr-228471

ABSTRACT

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.


Subject(s)
Child , Humans , Male , Arm , Chromosome Aberrations , Chromosomes, Human, Pair 5 , Comparative Genomic Hybridization , Diagnosis , Epilepsy , Genetic Counseling , Intellectual Disability , Korea , Methods , Microarray Analysis , Phenotype
19.
Korean Journal of Otolaryngology - Head and Neck Surgery ; : 583-587, 2016.
Article in Korean | WPRIM | ID: wpr-651648

ABSTRACT

BACKGROUND AND OBJECTIVES: To analyze the 125 Hz pure-tone thresholds in patients with acute low frequency sensorineural hearing loss (LFHL) and to investigate the value of 125 Hz thresholds for the assessment of LFHL. SUBJECTS AND METHOD: Hearing tests including 125 Hz pure-tone were performed in 91 patients with acute LFHL ≤500 Hz and in 46 subjects with normal hearing. Patients with sudden sensorineural hearing loss or Meniere's disease were excluded. Inter-group and intra-group comparison of 125 Hz was made between LFHL and the control groups. RESULTS: There was a significant difference of mean pure-tone thresholds at 125 Hz between the acute LFHL and the normal groups (39.8±8.9 vs. 14.3±6.7 dB). Eight (8.8%) patients in the LFHL group showed normal thresholds at 125 Hz, but all other subjects were normal at 125 Hz in the control group. None with the average hearing thresholds at 250 and 500 Hz ≥40 dB had normal threshold at 125 Hz. There was a significant correlation between 125 Hz and other low frequencies in the LFHL group (250 Hz; r=0.81, 500 Hz; r=0.63). CONCLUSION: Not all patients with acute LFHL show abnormal hearing threshold at 125 Hz although every subject with normal hearing is within the normal limits at 125 Hz. Threshold assessment should be made at 125 Hz when a mild LFHL exists in the conventional pure tone audiometry.


Subject(s)
Humans , Audiometry , Audiometry, Pure-Tone , Auditory Threshold , Hearing , Hearing Loss, Sensorineural , Hearing Tests , Meniere Disease , Methods
20.
Gut and Liver ; : 607-614, 2015.
Article in English | WPRIM | ID: wpr-216110

ABSTRACT

BACKGROUND/AIMS: Proton pump inhibitors (PPIs) act by irreversibly binding to the H+-K+-ATPase of the proton pump in parietal cells and may possibly affect the vacuolar H+-ATPase in osteoclasts. METHODS: We investigated the effect of 8 weeks of PPI treatment on the parameters of bone turnover and compared PPI with revaprazan, which acts by reversibly binding to H+-K+-ATPase in proton pumps. This study was a parallel randomized controlled trial. For 8 weeks, either a PPI or revaprazan was randomly assigned to patients with gastric ulcers. The parameters of bone turnover were measured at the beginning of and after the 8-week treatment period. RESULTS: Twenty-six patients (PPI, n=13; revaprazan, n=13) completed the intention-to-treat analysis. After the 8-week treatment period, serum calcium and urine deoxypyridinoline (DPD) were increased in the PPI group (serum calcium, p=0.046; urine DPD, p=0.046) but not in the revaprazan group. According to multivariate linear regression analysis, age > or =60 years was an independent predictor for the changes in serum calcium and urine DPD. CONCLUSIONS: In elderly patients, administering a PPI for 8 weeks altered bone parameters. Our study suggested that PPIs might directly alter bone metabolism via the vacuolar H+-ATPase in osteoclasts.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Amino Acids/drug effects , Bone Remodeling/drug effects , Bone and Bones/metabolism , Calcium/blood , Intention to Treat Analysis , Linear Models , Multivariate Analysis , Osteoclasts/metabolism , Prospective Studies , Proton Pump Inhibitors/pharmacology , Pyrimidinones/pharmacology , Tetrahydroisoquinolines/pharmacology
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