• Clinical and Experimental Reproductive Medicine
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• v.26 no.2
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• pp.275-280
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• 1999

Male sexual differentiation involves a cascade of events initiated by the presence on the Y chromosome of the of the SRY (sex determining region of Y chromosome) gene, which causes the indifferent gonad to develop into a testis. Hormonal products of the testis, predominantly testosterone and Mullerian inhibiting subtance (MIS), then control the sexual differentiation of the developing fetus. SRY is a transcription factor; however, target genes for its action have yet to be identified, because the DNA recognition sequence for SRY is found in many genes. Therefore the study of intersex disorders is being used to identify other genes active in the pathway of sexual differentiation. Patients with 46,XY gonadal dysgenesis, or Swyer's syndrome, have streak gonads, normal stature, and a sexually infantile phenotype with Mullerian structures present. The inheritance is usually sporadic but can be autosomal dominant or X-linked recessive. Unlike 45,X patients, stigmata of Turner syndrome are rare. As many as 20 to 30% of patients are at risk for malignant gonadal tumor formation and should undergo gonadectomy soon after the diagnosis is made. We have experienced a case of Swyer syndrome which showed a positive SRY gene in peripheral blood and gonad. So we report this case with a brief review of literatures.

• Journal of Korea Water Resources Association
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• v.41 no.5
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• pp.527-544
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• 2008

Generalized Pareto distribution (GPD) is frequently applied in hydrologic extreme value analysis. The main objective of statistics of extremes is the prediction of rare events, and the primary problem has been the estimation of the threshold and the exceedances which were difficult without an accurate method of calculation. In this paper, to obtain the threshold or the exceedances, four methods were considered. For this comparison a GPD model was used to estimate parameters and quantiles for the seven durations (1, 2, 3, 6, 12, 18 and 24 hours) and the ten return periods (2, 3, 5, 10, 20, 30, 50, 70, 80 and 100 years). The parameters and quantiles of the three-parameter generalized Pareto distribution were estimated with three methods (MOM, ML and PWM). To estimate the degree of fit, three methods (K-S, CVM and A-D test) were performed and the relative root mean squared error (RRMSE) was calculated for a Monte Carlo generated sample. Then the performance of these methods were compared with the objective of identifying the best method from their number.

• Archives of Plastic Surgery
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• v.34 no.4
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• pp.508-511
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• 2007

Purpose: Dermoid cysts are almost always caused by congenital events. The most widely accepted pathogenesis is that the cysts are dysembryogenetic lesions that arise from ectodermic elements entrapped during the midline fusion. We report a rare case of dermoid cyst, which occurred not congenitally but newly in the subcutaneous scar tissue secondary to trauma. Methods: A 26-year-old man had a deep submental laceration caused by a car accident and got a primary wound closure 16 months ago. There were 18 cm-long submental hypertrophic scar and newly developed palpable masses inside the subcutaneous layer at the center of the scar. Initial impression was an epidermal cyst or a thyroglossal duct cyst. Ultrasonographic finding showed two cystic masses inside the scars at the submental area, but impressed dermoid cysts. The cystic masses were completely removed with W-plasty and histological examination were followed. Results: The histological diagnosis was dermoid cysts which were mainly composed of keratotic squamous epithelium in their inner surface linings and numerous skin appendages such as sebaceous glands, sweat glands, and hair follicles in their cystic lumens histopathologically. During the follow-up period of 25 months, there was no recurrence of any subcutaneous mass in the site of scar. Conclusion: We report a very unusual case of dermoid cysts developed by an acquired cause, considering that the accidental inclusion of deep skin elements caused by a trauma can be a critical origin of dermoid cysts.

• Economic and Environmental Geology
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• v.18 no.2
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• pp.177-184
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• 1985

The carbonate flat pebble conglomerates (CFPC) are interbedded as lenticular bed in the greenish rhythmite of the upper part of $Hwaj{\check{o}}l$ Formation, $Jos{\check{o}}n$ Supergroup. Pebbles are composed mainly of lime-mudstone with small amounts of bioclasts and silt-sized subangular quartz grains. The matrix among pebbles is composed mainly of sparry calcite with relatively much amounts of bioclasts, silt-sized subangular quartz grains and authigenic pyrite crystals or grains. The sparry calcite of the matrix seems to be the results of neomorphism of skeletal sands and bioclasts. The pebbles are well rounded and no plastic deformations are found. Some pebbles show the outer rim of glauconite. CFPC are not associated with any other intertidal features such as stromatolites, flaser bedding and channel structures. Also any features indicative of subaerial exposure such as dessication cracks, fenestrae and so on are not found in the bed. The sedimentological features of CFPC suggest that the following conditions appear to have been necessary for the formation of CFPC : 1) episodic deposition of thin, permeable calcareous beds separated argillaceous beds; 2) preservation of these beds near the sediment-water interface where they could become rapidly cemented; 3) erosion and redeposition of the partially lithified beds by storms or other exceptional erosional events. Eventually storm erosion and redeposition together represent only one of several critical conditions in the genesis of CFPC. The CFPC are very common in Cambrian and lower Ordovician formations, and become very rare in the younger carbonate formations. The expansion of infauna after Ordovician Period eliminated the widespread potential for rapid submarine cementation which is one of the critical factors to form CFPC.

• Archives of Craniofacial Surgery
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• v.12 no.1
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• pp.58-62
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• 2011

Purpose: The focal ossification of auricular cartilage is an unusual clinical entity in which the ear becomes partially or totally rigid and immalleable. This condition may result from cold injury, local trauma, inflammation, or various systemic diseases. Patients may feel mild discomfort, but there are usually no other serious symptoms. We present a case of focal ossification of auricular cartilage in which the cause is unknown. Methods: A healthy 58-year-old man presented with a 2-year history of hard mass of right posterior auricular area. He denied any precipitating historical events like cold injury and inflammation. Routine testing did not demonstrate systemic abnormalities. Ultrasonographic examination revealed a $22{\times}10{\times}11mm$ sized heterogenous isoechoic mass showing an acoustic shadow. Results: Excisional biopsy was performed under local anesthesia. Histological examination revealed the ossification with deposition of trabecular bone in normal elastic cartilage. The patient was healed without any problems and satisfied with the result. Conclusion: We report clinical experience of focal ossification of auricular cartilage, which is quite a rare clinical entity. It should be considered that there is the possibility of ossification of cartilage when it meets the benign mass of the ear.

• Journal of The Korean Society of Integrative Medicine
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• v.9 no.2
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• pp.105-108
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• 2021

Background : Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare, autosomal recessive metabolic disorder which is caused by genetic mutations that disrupt the urea cycle. It is characterized by variable clinical presentation and the age of onset. Patients may present with gait disturbance and progressive paraplegia and muscle tightness in the lower extremities. The use of botulinum toxin in metabolic disease has rarely been discussed. We describe a case of a 14-year-old-boy with HHH syndrome, who presented with a several - month history of gait disturbance and lower extremity weakness. Case presentation : A 14-year old male had a history of recurrent upper respiratory tract infections, occasional vomiting, loss of appetite, and general weakness, all of which started since he was 10 months old. He was diagnosed with HHH syndrome at one year of age. At the age of 14, he was referred for the assessment and treatment of his gait disturbance and aggravated weakness of the lower extremities. Brain MRI, electrodiagnostic study and blood test were performed to exclude any lesions related to neurologic dysfunction. Botulinum toxin type A were injected into muscles of adductor longus, adductor magnus, lateral and medial hamstring, and lateral and medial gastrocnemius muscle heads under needle electromyography guidance to reduce lower limb spasticity. Intensive physical therapy including gait training and stretching exercise of adductor and calf muscles were also provided. After intensive physical therapy and botulinum toxin injection to reduce lower limb spasticity, he was able to ambulate for 20 meters independently without any walking aids. There were no adverse events after the injection. Conclusion : Botulinum toxin injection is a safe and effective therapy for patients with HHH syndrome who suffer from gait disturbance.

• Journal of Interdisciplinary Genomics
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• v.3 no.1
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• pp.21-24
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• 2021

Purpose: Activating mutations of the calcium-sensing receptor (CASR) are a rare genetic disorder, and result in autosomal dominant hypocalcemia with hypercalciuria (ADHH). ADHH exhibited varying degrees of hypocalcemia. In this study, we report the clinical and molecular characteristics of activating variants in CASR patients diagnosed in Korea. Methods: This study included three patients with activating variants of CASR confirmed by biochemical and molecular analysis of CASR. Clinical and biochemical findings were reviewed chart retrospectively. Mutation analysis of CASR was performed by Sanger sequencing. Results: Subject 1 showed severe symptoms from the neonatal period and had difficulty in controlling the medications that were administered. Subject 2 was identified as having a novel variant of CASR with hypocalcemia and a low parathyroid hormone that were found in the neonatal period. During a course without medication, hypocalcemia occurred suddenly around 2 years of age. Subject 3 was diagnosed with hypoparathyroidism with hypocalcemic seizures starting from the neonatal period. About 4 years without taking medication with any symptom. However, at 10 years old revisited by repetitive hypocalcemic seizure events. Subject 1 and 3, were heterozygous for c.2474A>T (p.Y825F), c.2395G>A (p.E799K) located in the transmembrane domain (TMD) of CASR. Subject 2 was heterozygous for c.403A>C (S430L) located in the extracellular domain (ECD) of CASR. Conclusion: We reported 3 patients who have activating CASR variant with different onset and severity of symptoms. In the future, further study is needed to determine how the protein level according to the location of the mutation of CASR affects the degree of symptoms.

• Structural Engineering and Mechanics
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• v.69 no.4
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• pp.407-416
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• 2019

This paper develops a wireless sensor for online fatigue crack detection and failure warning based on crack-induced nonlinear ultrasonic modulation. The wireless sensor consists of packaged piezoelectric (PZT) module, an excitation/sensing module, a data acquisition/processing module, a wireless communication module, and a power supply module. The packaged PZT and the excitation/sensing module generate ultrasonic waves on a structure and capture the response. Based on nonlinear ultrasonic modulation created by a crack, the data acquisition/processing module periodically performs fatigue crack diagnosis and provides failure warning if a component failure is imminent. The outcomes are transmitted to a base through the wireless communication module where two-levels duty cycling media access control (MAC) is implemented. The uniqueness of the paper lies in that 1) the proposed wireless sensor is developed specifically for online fatigue crack detection and failure warning, 2) failure warning as well as crack diagnosis are provided based on crack-induced nonlinear ultrasonic modulation, 3) event-driven operation of the sensor, considering rare extreme events such as earthquakes, is made possible with a power minimization strategy, and 4) the applicability of the wireless sensor to steel welded members is examined through field and laboratory tests. A fatigue crack on a steel welded specimen was successfully detected when the overall width of the crack was around $30{\mu}m$, and a failure warnings were provided when about 97.6% of the remaining useful fatigue lives were reached. Four wireless sensors were deployed on Yeongjong Grand Bridge in Souht Korea. The wireless sensor consumed 282.95 J for 3 weeks, and the processed results on the sensor were transmitted up to 20 m with over 90% success rate.

• Journal of Korean Neurosurgical Society
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• v.64 no.1
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• pp.60-68
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• 2021

Objective : Until recently, the transfemoral approach (TFA) was used as the primary method of arterial approach in acute ischemic stroke (AIS). However, TFA resulted in longer reperfusion times and worse outcomes in the mechanical thrombectomy (MT) of patients with complex aortic arches and significant carotid tortuosity. We found that the transradial approach (TRA) is a more favorable alternative approach for MT in such cases. Methods : We performed a retrospective review of our institutional database to identify 202 patients who underwent MT for AIS between February 2015 and December 2019. Patient characteristics, cause of TFA failure, procedure time, intra-procedural complications, and outcomes were recorded. Results : Eleven (5.4%) of 202 patients, who underwent MT for AIS, crossed over to TRA for recanalization, and eight (72%) of 11 achieved successful recanalization (≥modified Treatment in Cerebral Infarction 2b). The mean age (mean±standard deviation [median]) was 82.3±6.6 (76) years, and five of the 11 patients were male. The last seen normal to puncture time was 467.9±264.72 (264) minutes; baseline National Institutes of Health Stroke Scale score was 28.9±14.5 (16). Six (55%) of the 11 patients had right vertebrobasilar occlusions, and the remaining five (45%) had anterior circulation occlusive disease. The time from groin puncture to final recanalization time (overall procedural time) was 78.0±20.1 (62) minutes. The mean crossover time from TFA to TRA was 45.2±10.5 (41) minutes. The mean time from radial puncture to final recanalization was 33.8±10.5 (28) minutes. Distal thrombus migration events in previously unaffected territories occurred in 3/8 patients (37%). At 90 days, three patients (28%) had a favorable clinical outcome. Conclusion : Although rare, failure of TFA has been known to occur during MT for AIS. Our results demonstrate that TRA may be an alternative option for AIS intervention for select patients with subsequent timely revascularization. However, the incidence of distal thrombus migration was high, and the first puncture to reperfusion time was prolonged because of the time taken for the crossover to TRA after failure of TFA. This study provides some evidence that the TRA may be a viable alternative option to the TFA for MT of AIS.

• Atmosphere
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• v.32 no.4
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• pp.353-365
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• 2022

This paper evaluates precipitation forecast skill of Global/Regional Integrated Model system (GRIMs) over South Korea in a boreal winter from December 2013 to February 2014. Three types of precipitation are classified based on development mechanism: 1) convection type (C type), 2) low pressure type (L type), and 3) orographic type (O type), in which their frequencies are 44.4%, 25.0%, and 30.6%, respectively. It appears that the model significantly overestimates precipitation occurrence (0.1 mm d^-1) for all types of winter precipitation. Objective measured skill scores of GRIMs are comparably high for L type and O type. Except for precipitation occurrence, the model shows high predictability for L type precipitation with the most unbiased prediction. It is noted that Equitable Threat Score (ETS) is inappropriate for measuring rare events due to its high dependency on the sample size, as in the case of Critical Success Index as well. The Symmetric Extreme Dependency Score (SEDS) demonstrates less sensitivity on the number of samples. Thus, SEDS is used for the evaluation of prediction skill to supplement the limit of ETS. The evaluation via SEDS shows that the prediction skill score for L type is the highest in the range of 5.0, 10.0 mm d^-1 and the score for O type is the highest in the range of 1.0, 20.0 mm d^-1. C type has the lowest scores in overall range. The difference in precipitation forecast skill by precipitation type can be explained by the spatial distribution and intensity of precipitation in each representative case.