• Maxillofacial Plastic and Reconstructive Surgery
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• v.13 no.2
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• pp.185-190
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• 1991

Thr rickets or osteomalacia, that was induced by nonendocrine osseous or soft tissue tumor, is extremely rare disease and fourteen patients has been reported since 1947. The real nature of this disease is unknown, but postulated that unknown phosphaturic subtance which was elaborated from the tumor affect the renal tubule and produce hypophosphatemia and failure of calcification of osseous tissue. This case presented is that of 41-year-old man who suffered from severe generalized aching pain, severe muscular dystrophy, and shortening of the stature 4 years prior hospitalization. The causal coexisting tumor is walnut sized peripheral giant cell granuloma on the upper gingiva. After surgical removal of the tumor, patient's biochemical findings of the serum and urine were returned to the normal limits 12 days later, and clinical symptoms were marked relieved at 6 weeks later. The dental radiograms which were obtained 4 months later revealed remarkable bone regeneration and newly formed alveolar lamina dura.

• Journal of Genetic Medicine
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• v.1 no.1
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• pp.33-37
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• 1997

Spinal muscular atrophy (SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5 (5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron (SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein (NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the significance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.

• Childhood Kidney Diseases
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• v.6 no.2
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• pp.266-271
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• 2002

There are several diseases characterized by neurologic abnormalities and renal disease. Joubert syndrome is one of them. Joubert syndrome Is a relatively rare autosomal recessive syndrome. The most significant and constant neurologic finding is hypoplasia of the cerebellar vermis. Joubert syndrome is associated with hypotonia, retinal dystrophy, abnormal eye movement, delayed development, abnormal respiratory pattern (neonatal episodic tachypnea or apnea) and nephronophthisis. We report a boy with Joubert syndrome associated with nephrocalcinosis and agenesis of the cerebellar vermis. This patient had also abnormal eye movement, hypotonia, abnormal respiratory pattern, delayed development and chronic renal failure.

• Clinical and Experimental Pediatrics
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• v.61 no.3
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• pp.95-100
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• 2018

Purpose: This study aimed to evaluate the clinical findings in pediatric rhabdomyolysis and the predictive factors for acute kidney injury (AKI) in Korean children. Methods: Medical records of 39 Korean children, who were newly diagnosed with rhabdomyolysis from January 2008 to December 2015, were retrospectively analyzed. The diagnosis was made from the medical history, elevated serum creatinine kinase level >1,000 IU/L, and plasma myoglobin level >150 ng/mL. Patients with muscular dystrophy and myocardial infarction were excluded. Results: The median patient age at diagnosis was 14.0 years (range, 3-18 years), and the male to female ratio was 2.5. The most common presenting symptom was myalgia (n=25, 64.1%), and 14 patients (35.9%) had rhabdomyolysis-induced AKI. Eighteen patients (46.2%) had underlying diseases, such as epilepsy and psychotic disorders. Ten of these patients showed rhabdomyolysis-induced AKI. The common causes of rhabdomyolysis were infection (n=12, 30.7%), exercise (n=9, 23.1%), and trauma (n=8, 20.5%). There was no difference in the distribution of etiology between AKI and non-AKI groups. Five patients in the AKI group showed complete recovery of renal function after stopping renal replacement therapy. The median length of hospitalization was 7.0 days, and no mortality was reported. Compared with the non-AKI group, the AKI group showed higher levels of peak creatinine kinase and myoglobin, without statistical significance. Conclusion: The clinical characteristics of pediatric rhabdomyolysis differ from those observed in adult patients. Children with underlying diseases are more vulnerable to rhabdomyolysis-induced AKI. AKI more likely develops in the presence of a high degree of albuminuria.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.57-61
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• 2013

Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect characterized biochemically by hyperglycerolaemia and glyceroluria. GK gene is located on the short arm of X chromosome 21.3 region tandemly with AHC gene, and DMD gene and there is a long deletion resulting in contiguous gene deletion syndrome. In Korea there was a report of contiguous gene deletion syndrome of adrenal hypoplasia congenita, glycerol kinase deficiency and Duchenne muscular dystrophy but no isolated glycerol kinase deficiency. This is the first case of isolated glycerol kinase deficiency confirmed by organic acid analysis and gene analysis in Korea.

• Journal of Gastric Cancer
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• v.6 no.1
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• pp.43-46
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• 2006

An adenomyoma of the gastrointestinal tract is a rare, benign, tumor-like condition histologically characterized by glandular structures embedded within a smooth muscle stroma. An adenomyoma has been considered to be as an abortive variant of an ectopic pancreas. An ectopic pancreas is defined as the presence of pancreatic tissue that lacks anatomic and vascular continuity with the main body of the pancreas. Common sites of an ectopic pancreas are the stomach, duodenum, and upper jejunum. An adenomyoma may rarely undergo a malignant transformation or cystic dystrophy. Recently, the authors an experienced a case of an incidental adenomyoma of the stomach associated with early gastric carcinoma. We report that case here.

• Korean Journal of Social Welfare
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• v.65 no.1
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• pp.5-31
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• 2013

The principle objective of this study is to determine factors affecting social participation for physically disabled people with musculoskeletal conditions (spinal cord injury, muscular dystrophy, osteogenesis imperfecta, rheumatoid arthritis) in South Korea using ICF relevant categories of the international classification index by WHO. The subjects of this study 352 people with physical disabilities, the data were collected using ICF component(body functions, body structures, activities and participation and environmental factors) and the relevant categories deprived from ICF core sets. The collected data were evaluated with descriptive analysis, ANOVA, correlation analysis, and multiple regression analysis. The results of this study can be summarized as follow. The mental function, Neuromusculoskeletal and movement-related functions, Genitourinary and reproductive functions, Skin and related structures, Learning and applying knowledge, General tasks and demands, and Mobility positively influenced social participation in people with musculoskeletal conditions. However individual factors and environmental factors didn't statistically significant affect on social participation. The implications of the study is to examine by ICF components of universal approach on disability study and utilized the relevant ICF categories as measurement tools.

• The Journal of Dong Guk Oriental Medicine
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• v.5
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• pp.79-95
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• 1996

When we see normal gait, gait cycle is seperated as stance phase and swing phase. It needs 6 determinant of gait of pelvic rotation, pelvic tilt, knee joint of stance phase, ankle and foot motion, ankle and knee motion, and pelvic movement to be accomplished. In addition, a joint and muscle action is accomplished biomechanically at the same time with its gait cycle. In oriental medicine, the relationships between chang-fu physiology and meridian physiology are summaried as follows ; ${\bullet}$ chang-fu physiology : Spleen manages the extremities. Liver manages soft tissues. Liver stores blood. Kidney stores essences. Kidney manages bones. ${\bullet}$ meridian physiology : The Leg Greater Yang Meridian and meridian soft tissues The Leg Yang-Myeong Meridian and meridian soft tissues The Leg Lesser Yang Meridian and meridian soft tissues The Leg Greater Yin Meridian and meridian soft tissues The Leg Lesser Yin Meridian and meridian soft tissues The Leg Absolute Yin Meridian and meridian soft tissues Especially, we can find out relations between in a "blood supplied feet can walk well" that explains "blood regulations and by liver nourishing effects"that is the closest concept of muscle. Abnormal gaits are due to three causes as following; first, physical defect secoud, pain third, nervous system or instability of muscle. In oriental medicine, we can know relationship in "atrophy, numbness, stroke, convulsion, muscular dystrophy of knee, rheumatoid arthritis, five causes of infantile growing defects, five causes of softening, sprain". Especially, atrophy is the most important symptom. Gait evaluation should be emphasized where a point can walk 8 feet to 10 feet considering stride width, stride length, the body weight center, stride number, flexion, extension, rotation of a joint as a standard factor. The point is we should find out something strange in a patient's side, front and back view. After that we should find out its cause as an index that we can observe abnormal findings in a joint and muscle.

• The Transactions of the Korean Institute of Electrical Engineers D
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• v.55 no.11
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• pp.502-510
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• 2006

In this paper, we describe implementation of a computer access device for the severly motor-disability. Many people with severe motor disabilities need an augmentative communication technology. Those who are totally paralyzed, or 'locked-in' cannot use conventional augmentative technologies, all of which require some measure of muscle control. The forehead is often the last site to suffer degradation in cases of severe disability and degenerative disease. For example, In ALS(Amyotrophic Lateral Sclerosis) and MD(Muscular dystrophy) the ocular motorneurons and ocular muscles are usually spared permitting at least gross eye movements, but not precise eye pointing. We use brain and body forehead bio-potentials in a novel way to generate multiple signals for computer control inputs. A bio-amplifier within this device separates the forehead signal into three frequency channels. The lowest channel is responsive to bio-potentials resulting from an eye motion, and second channel is the band pass derived between 0.5 and 45Hz, falling within the accepted Electroencephalographic(EEG) range. A digital processing station subdivides this region into eleven components frequency bands using FFT algorithm. The third channel is defined as an Electromyographic(EMG) signal. It responds to contractions of facial muscles and is well suited to discrete on/off switch closures, keyboard commands. These signals are transmitted to a PC that analyzes in a time series and a frequency region and discriminates user's intentions. That software graphically displays user's bio-potential signals in the real time, therefore user can see their own bio-potentials and control their physiological signals little by little after some training sessions. As a result, we confirmed the performance and availability of the developed system with experimental user's bio-potentials.

• Annals of Clinical Neurophysiology
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• v.3 no.2
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• pp.143-146
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• 2001

Background : Backpack palsy was described in military personnel with shoulder girdle and proximal upper extremity symptoms, predominantly motor in nature related to the use of heavy backpack. Currently, backpack were used for sports, transporting school books and child carriers. We evaluated clinical and electrophysiological feature of backpack palsy. Methods : We included 11 patients with brachial plexopathy as a result of wearing a heavy backpack on long distance marches. All patients were done routine blood sampling, chest X-ray, C-spine X-ray and electrophysiological studies. Results : All patients were right handed person and were not as having a thoracic outlet syndrome. Sensory changes were main initial symptoms and major persistent symptoms were motor weakness. 9 patients(81.8%) were damaged the brachial plexus on non-dominant side, 1 patient was dominant and 1 patient was bilateral involvement. 10 patients(90.9%) were damaged to upper trunk of the brachial plexus by EMG findings. The prognosis was good, 10 patients(90.9%) were complete recovery during 8 weeks, 1 patient was developed reflex sympathetic dystrophy confirmed by 3-phase bone scan. Conclusions : Depression of the clavicle and costoclavicular space probably plays a certain role in pathogenic mechanism. The non-dominant side is more frequently affected, probably due to underdevelopment of the musculature in that side.