• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.22 no.6
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• pp.314-320
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• 2021

With the increasing age of motherhood in recent years, attributed to late marriages due to social or environmental factors, the Down's syndrome screening test using biochemical markers has become essential for pregnant women. The process of diagnosing Down's syndrome pregnancy in the high-risk group subjects involves chromosomal analysis, which is performed on samples obtained through invasive procedures such as chorionic biopsy or amniotic fluid. Thus, to reduce unnecessary invasive tests and lower the risk to mother and fetus, it is important to identify a screening test with low risk and high Down's syndrome detection rate. Recently, as the average age of mothers has increased, numerous inspection agencies have classified high-risk mothers as women over the age of 35 years. This study evaluated a total of 36,436 pregnant women aged between 17 to 46 years, and who requested prenatal screening at an inspection agency in Yongin in 2018. Test (13,690 people) Four tests were conducted by applying the time-resolved fluoroimmunoassay method using the direct sandwich and indirect sandwich technology, and the immunoassay method using the sandwich method. We aimed to confirm the difference in positivity rate with increasing age of the subjects. We believe that in future, data obtained from this study will be very useful for the prevention and treatment of Down's syndrome risk at varied inspection institutions, and for prospective mothers.

• Biomedical Science Letters
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• v.2 no.1
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• pp.127-132
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• 1996

The karyotype and the concentration of serum protein were investigated in Korean unclassified mental retardees. The results were as follows. Fragile X chromosomes were identified in three patients, and the frequencies of fragile X chromosome were 4~15%. The concentration of serum protein was 5.73$\pm$0.89(g/dl), and the A/G ratio was 0.86$\pm$0.14 in fragile X syndrome patients. The concentration of serum protein was 6.83 $\pm$0.72(g/dl), and the A/G ratio was 0.87$\pm$0.17 unclassified mental retardees. The results revealed that the level of globulin concentration and A/G ratio in fragile X syndrome patients and unclassified mental retardees were lower than in normal group and Down's patients.

• Journal of the korean academy of Pediatric Dentistry
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• v.29 no.1
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• pp.51-56
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• 2002

Russell-Silver syndrome is a type of intrauterine growth retardation, characterized by short stature noted at birth, hemiatrophy or asymmetry, variation in sexual development and other abnormalities, including cafe-aulait pigmentation and clinodactyly. Facial features commonly associated with this syndrome are a small triangular face, decreased facial height, down-turned corners of the mouth(shark's mouth), a small mandible, and occasionally asymmetry. The major intra-oral features of the syndrome that have been reported are a high-arched palate, delayed tooth eruption, microdontia, hypodontia, and crowding. These cases were diagnosed at birth as Russell-Silver syndrome by clinical features such as prenatal growth retardation, short stature, low body weight, et al., and have been treated with growth hormone. The purpose of this paper is to report the dental findings of two patients and review the pertinent literature through the two cases.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.92-95
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• 2015

Purpose: Increased maternal age is a major risk factor for chromosomal abnormalities. The maternal age-specific risk of fetal trisomy was theoretically calculated. We investigated the actual frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women over the age of 34 at delivery. Materials and Methods: We retrospectively, over a four-year period, reviewed the medical records of women with singleton pregnancies that started their antenatal care before the 10th week of pregnancy. Pregnant women aged 34 to 45 years at the time of delivery were enrolled and divided into groups of one-year intervals. We investigated the frequency of Down syndrome and all trisomies as a function of the maternal age and compared with the theoretical maternal-age-specific risk. Results: Of the 5,858 pregnant women enrolled in the study, the rate of trisomy 21 was 0.29% (17 cases). The observed frequencies of trisomy 21 in women with maternal ages of 35 years and 40 years were 1:1,116 and 1:141, respectively. The rate of all trisomies was 0.39% (23 cases). The observed frequencies of all trisomies in women with maternal ages of 35 years and 40 years were 1:372 and 1:56, respectively. Conclusion: The frequencies of Down syndrome and all trisomies were proportional to the maternal age. However, the observed frequencies of Down syndrome and all trisomies between the 16 and 24 gestational weeks were lower than the theoretical rates.

• Journal of Chest Surgery
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• v.21 no.3
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• pp.574-582
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• 1988

Endocardial cushion defects is a rare congenital heart disease. We experienced two complete endocardial cushion defects[ECD] and three partial ones, which were successfully repaired between 1986 and 1987. In a patient of complete ECD, associated with secundum ASD, Pulmonary stenosis and Down`s syndrome, the atrial and ventricular septal defects were closed separately with bovine pericardium and Dacron patches respectively, and then pulmonary stenosis was relieved by transannular patch widening in addition to valvotomy and infundibulectomy. In another patient with complete ECD, small interventricular communication was closed with simple suture with pledget and primum ASD was closed with pericardial patch. In first patient of partial ECD, primum atrial septal defect was closed with pericardial patch. In second patient of partial ECD, associated with secundum ASD, direct closure of secundum ASD and patch closure of primum ASD were performed. In third patient of partial ECD, associated with patent foramen ovale[PFO], primum ASD was closed with bovine pericardial patch and PFO was closed directly. In all patient except third patient of partial ECD, mitral clefts were closed with three or four 5-0 prolene interrupted sutures. Transient A-V dissociation developed postoperatively in two patients and transient nodal rhythm developed postoperatively in other two patients. Heart failure in complete ECD with Down`s syndrome was overcome with medical treatment.

• Journal of Korean Physical Therapy Science
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• v.14 no.1_4
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• pp.55-60
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• 2007

The purpose of this case report is to investigate whether an attempt to hold the repeated upright posture under blocking the patient's vision affects the deficits to push away from the paralytic side and the relapse time from down to stand up position without push away in patients with hemiplegia with pusher syndrome. Two hemiplegic patients with pusher syndrome were assessed. The task was performed 4 times per day for 6 weeks. The modified barthel index (MBI) was performed to assess activities of daily living (ADL). For assessing balance, the "balanced sitting" and "sit to stand" are analyzed using by modified motor assessment scale (MMAS). The scale for contraversive pushing (SCP) was used for determination of push away from paralyzed side. MBI, MMAS and SCP were assessed before and after trial of the task. In patient 1, total score of the scale is 0 in sitting posture and standing posture within 3 weeks and 4 weeks, respectively, In patient 2, total score of the scale is 0 in sitting posture and standing posture within 4 weeks and 6 weeks, respectively. These results demonstrated that pusher syndrome was completely resolved in at least 6 weeks. Our findings indicate that this physical therapy seems to be relevant for the hemiplegic patients with pusher syndrome.

• The Korean Journal of Pain
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• v.8 no.2
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• pp.390-393
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• 1995

Although spinal anesthesia has long been considered a safe technique, it is not without risk or side effect. Cauda equina syndrome is a rare but serious complication of spinal anesthesia. We have experience a case of cauda equina syndrome after spinal anesthesia. A twenty year old healthy male patient complained of pain, numbness, tingling sensation and motor weakness on his right lower extremity 8 hours after subarachnoid blockade. On the following day, the patient was noted to have a right L1 to S2 radiculopathy. Magnetic Resonance Imaging results were unremarkable. The patient sprained his ankle while trying to move down from the bed, so short leg splint was applied. Then he had additional right common peroneal nerve injury from the splint. His neurologic symptoms improved gradually thereafter, and three months postoperatively his electromyogram revealed improving stage from right common peroneal nerve palsy.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.64-71
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• 2007

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

• The Journal of Churna Manual Medicine for Spine and Nerves
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• v.2 no.1
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• pp.99-114
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• 2007

Objectives : The purpose of this study was to introduce the Chuna Manual Therapy (CMT) using Bong (a type of stick which is called 'bong') as a part of Oriental Medicine. Methods : We searched several traditional methods of CMT using Bong, either individual contact to specialist of CMT using Bong or referred to publications, and summarized briefly for introduction. Authors also made a comparative study between existing CMT and CMT using the bong. Results & Conclusions : The indications of Bong CMT are regarded as acute or chronic pain syndrome, whiplash associated disorders, facet syndrome, vertebral misalignment, chronic fatigue syndrome, obesity and also lower extremity length difference caused by malalignment of vertebrae and pelvic bone. The Meridian Muscle Therapy by pressing down using the Bong can be carried out on the imbalances of the muscle by shortening and lengthening contraction. CMT with Bong is considered more effective than other existing CMT in terms of effectiveness. In the case of pelvic correction which needs a tremendous amount of force, it can reduce the force required effectively. This fact can be inferred by the theory of composition and decomposition of force during the transmission of power. We can perform Bong CMT feeling less fatigued subsequently than general CMT. Pressing down with flexed fingers to grip bong acts on the contraction of flexor digiti and extensor digiti muscle, this protects the $doctor^{\circ}{\emptyset}s$ wrist joints from injury. The bong which acts as a tool between the doctor and the patient, while being given treatment, absorbs and spreads out the direct impact from the patient to the doctor. CMT with Bong is able to apply to both existing massage therapies with the hand. The bong appliance can be used in all applications, particularly, but not limited to; Orthopedic and Manual Correction Therapy, Meridian Muscle Pressing, Exercise Therapy, and Meridian Point Manual Pressing Therapy. CMT with Bong belongs to the category of oriental rehabilitation and Chuna manual medicine.