• Journal of Genetic Medicine
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• v.17 no.1
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• pp.43-46
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• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

• Journal of Korean Society for Quality Management
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• v.49 no.3
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• pp.245-254
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• 2021

Purpose: In order to accurately reach an underwater projectile to a target point, reliable INS and accurate arrangement of INS between master and slave INS is paramount. Unlike terrestrial and aerial environments, underwater projectile will operates in a restricted environment where location information cannot be received or sent through satellites. In this report, we review the factors affecting the transfer alignment of master and slave INS, as well as how to improve the positional error between INS through improved transfer alignment algorithms. Methods: In this work, we propose an improvement algorithm and verify it through simulation and driving test. The simulation confirmed the difference in the transfer alignment azimuth by fitting the MINS and SINS indoors, displacement in posture, and the process of transfer alignment between MINS and SINS through a driving test to confirm algorithm can improve the arrangement. Results: According to this study, reason for the error in the transfer alignment between MINS/SINS is the factors of the system where movements such as roll, pitch, yaw are not inter locked in real time due to the delay in transmit/receive system. And confirm that the improved algorithm has a desirable effect on accuracy. Conclusion: Through this work, it is possible to identify ways to improve the accuracy of underwater projectiles to reach their target points under various underwater environments and launch condition.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.341-347
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• 2003

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Physical features include short stature, characteristic facial appearance: flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults, chronic ear infections, hearing impairment, eye problems, including: strabismus (an eye which turns in or out) and myopia (nearsightedness), hoarse voice, short fingers and toes, heart defects or murmurs, problems related to the urinary system, scoliosis (curvature of the spine), an unusual gait (walking pattern), and decreased sensitivity to pain. Behavioral and developmental characteristics include speech delay and articulation problems, developmental delay, learning disability, mental retardation, hyperactivity, self-injury, including: head banging; hand biting; picking at skin, sores and nails; pulling off finger- and toenails; inserting foreign objects into ears, nose, or other body orifices, explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, arm hugging or hand squeezing when excited. This report is the case of a Korean 3-year-3-month old male with Smith-Magenis syndrome referred from local clinic for the treatment of dental caries. The patient was treated by physical restraint after prophylatic administration of antibiotic(Amoxacillin 50mg/kg).

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.65-68
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• 2008

Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year-old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.

• Korean Journal of Construction Engineering and Management
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• v.19 no.1
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• pp.43-53
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• 2018

Modular construction can improve construction quality and accuracy through manufacturing process, and it allow massive production and cost savings by repeatedly producing the same unit. In particular, it is possible to reduce the time because the on-site work and the manufacturing process can be carried out at simultaneously. However, according to the modular construction project survey report, there is no significant difference regarding the average construction period between modular construction and conventional construction. This is due to schedule delay problems that occur during construction phase. Therefore, it is necessary to select alternatives to prevent schedule delay during on-site construction progressing. Especially, in case of large-scale modular construction project, on-site module assembly and manufacturing process are performed concurrently. Hence, identification of alternatives should be done at the co-occurrence by taking both manufacturing and on-site work process in to account. In this research, the management factors of large-scale modular construction project were identified through the IDEF0 modeling, and the quantity management model for manufacturing and assembly is developed. This will reduce the schedule delay problem that occurs in the progression on-site work of a large scale modular construction.

• The Journal of Internal Korean Medicine
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• v.36 no.3
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• pp.276-283
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• 2015

Objectives: The purpose of this study is to report bowel sound patterns recorded in 3 diseases associated with structural deformity of the pylorus-duodenum. Methods: : Bowel sound recording is a useful non-invasive tool for the evaluation of gastrointestinal motility. However, the difficulty in manual attachment of the electronic stethoscope on the abdominal wall and noise production against bowel sound signals have prohibited its widespread use. Therefore, I developed a new apparatus that eliminates the noise; it contains a sound absorbing device and a holder for the head of stethoscope. Using the new bowel sound recording system, bowel sounds of the patients were recorded repeatedly. The endoscopic and abdominal computed tomography findings were obtained from other hospitals' medical record, and all patients were confirmed to have structural deformity in the pylorus-duodenum. The records of each patient were compared and assessed. Results: : Patients had either duodenal ulcer scar, pyloric stricture, or far advanced malignant stomach cancer, as diagnosed by the gastroscopy. Their dominant frequency of bowel sound obtained from the new system was checked more than 2 times at regular intervals. All 8 recordings in the 2 patients with duodenal ulcer scar (5 times) or pyloric stricture (3 times) showed a decrease in postprandial than fasting dominant frequency. One patient with stomach cancer showed no significant change between postprandial and fasting states at 2 recordings. Conclusions: The analysis of dominant frequency in bowel sounds can indicate the existence of pyloric obstruction that could delay gastric emptying.

• Journal of Chest Surgery
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• v.38 no.3 s.248
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• pp.253-257
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• 2005

The patients with primary lung cancer who have symptoms of angina pectoris commonly have underwent coronary artery bypass grafting (CABG) prior to lung resection. Recently, there are attempts to conduct simultaneous operation of CABG and lung resection to reduce disadvantages of staged operation, such as repeated general anesthesia, two wound incisions and delay of lung operation. These attempts generally report good results. Three patients underwent lung resection and CABG simultaneously, and had good post operative status without recurrence of cancer and angina pectoris. We conceive these as worthy cases to report.

• The Korean Journal of Nuclear Medicine Technology
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• v.13 no.3
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• pp.193-195
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• 2009

Purpose: The work flow of international hospital's laboratory consists of rapid test and result report at the present day. However, the frequent inquiry of sample, which cause affairs to delay and efficiency to Lower, affects medical examination. In order to promote work's efficiency, we should improve the problem and make work smooth between a laboratory, outs and ward. Materials and Methods: This study runs as follows. First, Investigating test result, test schedule, test receipt, quick result, etc through the activity required from September to November 2007 about the inquiry of sample. After analysis of the problem in December, remaking the test schedule for improvement solution and reporting it to outs and ward. When the result is retest and dilution, we directly fill in a result space with the result situation of the patient to let them know beforehand. We also, prevent the omission of the result through checking the sample list and discriminate in vivo from in vitro by changing the laboratory's telephone number. We have improved the problem about the inquiry of sample through valuation and analysis since the improvement activity from January to March 2008. Result: The case about the frequent inquiry of sample has reduced by 57.8%. this improvement activity indicated that p-value<0.05 was statistically significant through paired t-test. This activity make study smooth and we rapidly report the result. Conclusion: By reducing the case regarding the inquiry of sample, work discontinuation, and concentration reduction, the work efficiency was increased.

• The KIPS Transactions:PartC
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• v.16C no.4
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• pp.477-486
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• 2009

This paper proposes a dynamic bandwidth allocation (DBA) algorithm with adaptive maximum transmission window (DBA-AMTW) to increase channel utilization in Ethernet passive optical networks (EPONs). A polling mechanism in EPON determines channel utilization and puts constraints on DBA algorithm and scheduling. DBA algorithms based on interleaved polling with stop (IPS) allocate transmission windows to optical network units (ONU) considering requests of all ONUs. However channel idle time when any ONU does not transmit packets decreases channel utilization. Proposed DBA-AMTW improves efficiency of a network and allocates transmission windows effectively by appropriate DBA computation from REPORT messages of all ONUs. An adaptive maximum transmission window for each ONU determined by a DBA computation in the previous scheduling cycle. Simulation results show that the proposed DBA algorithm improves performance of throughput and average delay time.