• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.12 no.1
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• pp.115-124
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• 2001

Objective：The purpose of this study was to compare the clinical features of children with three subdiagnoses of tic disorder(transient tic disorder(TTD), chronic tic disorder(CTD) and Tourette’s disorder (TD)) and to exam the factors related with illness severity of them. Method：Subjects were 69 children who met DSM-IV criteria for tic disorder and 43 control children. All subjects were investigated demographic and clinical factors related to tic. The severity of tic was assessed with the Yale Global Tic Severity Scale(YGTSS) in tic disorder children. The Child Behavior Checklist(CBCL) was accomplished by parents of all subjects. Results：Children with TTD had not only shorter duration of tic symtoms but also milder tic severity and impairment than those with CTD and TD. They also had significantly lower scores on most CBCL subscales than children with CTD and TD, while they were similar with controls in all the CBCL subcale scores except aggressive behavior. Children with CTD and those with TD were similar to each other in clinical variables except number of tic symptom and scores on CBCL social problem subscale. The interference and intensity of motor tic symptoms and duration of tic symptoms were significant predictors of global impairment score on YGTSS, while the presence of comorbid ADHD was a preictor of the total behavior problem score of CBCL. Conclusion：These findings indicate that duration of tic symptoms and the presence of comorbid ADHD as well as the severity of tic symptoms strongly associated with the illness severity of children with tic disorder. These results also suggest that those clinical factors may be more important for assessing the severity of illness and determining the treatment strategy than the sub-diagnosis itself in children with tic disorder.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.2
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• pp.218-223
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• 2001

Achalasia is a rare motor disorder of the esophageal smooth muscle in which the lower esophageal sphincter dose not relax properly with swallowing, and the normal peristalsis of the esophageal body is replaced by abnormal contractions. Achalasia has been described as party of several distinct multisystem syndromes suggesting a generalized neuromuscular disorder as the mode of origin. An 11-year-old female was admitted because of paresthesia on the trunk and both legs for 5 days. She had suffered from chest discomfort, dysphagia, postprandial vomiting, and weight loss for 6 months. She was diagnosed as having achalasia by means of the esophagography and esophageal manometry. Her chest discomfort, dysphagia and vomiting much improved after the endoscopic balloon dilatation. The authors present an 11-year-old female with achalasia complained of paresthesia and sucessfully managed by the balloon dilatation.

• Archives of Plastic Surgery
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• v.34 no.6
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• pp.792-795
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• 2007

Purpose: Scoliosis is a multifactorial disorder caused by genetic, biochemical, developmental, neuromuscular factors and causes complex deformities which include skeletal deformity, pain, cardiovascular dysfunction, motor function disorder. Until now, the treatment of scoliosis have been focused on orthopedic correction, preservation of cardiopulmonary and neurologic function. But recently, as aesthetic demands increases, the needs for the correction or improvement of the trunk and extremity contour does. So, the correction of soft tissue contour deformity can be a new concept for the treatment of scoliosis. Methods: We corrected a deformed contour with prefabricated silicone implant in a scoliosis patient who had been operated for orthopedic correction previously. Submuscular pocket was made under trapezius and latissimus dorsi muscle. Silicone implant was placed in the pocket and fixed to thoracolumbar fascia with sutures. Results: We had a satisfactory results for the correction of contour deformity. There was no significant complication. Conclusion: Silicone implant is a new trial for the correction of scoliosis contour deformity. This method is simple, safe and brings on satisfactory results.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.14 no.1
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• pp.87-93
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• 2001

Object : This study was focused on finding out the better method of medical treatment of concussion after whiplash injury. Methods : This study has been carried out for two cases of concussion after whiplash injury which had been hospitalized at the Kangnam Oriental medical Hospital of the Dongguk University Results and conclusions : The concussion is caused by whiplash injury about $47\%. In the symptoms of concussion, there are lightheadedness, dizziness, neck pain, headache, photophobia, phonophobia, anamnesis disorder, concentration disorder, tinnitus, irritability, etc. It is considered more important that the treatment of nausea and vomiting than the removal of stagnation of blood. Oriental medical treatments including of herb-medicine, acupuncture, moxibustion, cupping, chuna, taping have more economic favor and rapid effects than the others. so we report on two cases.

• Clinics in Shoulder and Elbow
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• v.9 no.2
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• pp.246-250
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• 2006

Brachial neuritis is a rare disorder of unknown etiology that affects the lower motor neurons of the brachial plexus. The clinical course is characterized by acute onset of severe pain followed by weakness and gradual recovery. Among diagnostic tests, electromyography may be useful. The brachial neuritis has been confused with other painful shoulder conditions. The awareness of this disorder helps prevent unwarranted diagnostic studies & treatment. The authors report a case of brachial neuritis.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.37-40
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• 2016

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.

• Journal of TMJ Balancing Medicine
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• v.5 no.sup
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• pp.6-10
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• 2015

A 8 year-old male patient with tic disorder was managed by appliance of Functional Cerebrospinal Therapy (FCST) for 7 months, combined with acupuncture. After being treated for 7 months, the patient's symptoms were improved. Assessment was made by Yale Global Tic Severity Scale (YGTSS) and clinical observation. A positive effect was observed and further clinical and biological research on FCST is expected.

• Journal of International Academy of Physical Therapy Research
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• v.8 no.1
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• pp.1122-1127
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• 2017

The purpose of this case study was to identify the effects of posteroanterior (PA) mobilization on the cervical spine in a patient with chronic whiplash-associated disorder (WAD). The subject of this study was a 58-year-old woman who sustained a chronic WAD as a result of a motor vehicle accident two years prior. The subject has progressively worsening neck pain and stiffness. The subject was determined to have a grade IIb WAD the use of the Modified Quebec Classification. The intervention was central and unilateral PA mobilization on the spinous process of C4 and C5. The PA mobilizations were performed at the end of range to Maitland grade IV. The PA mobilization was conducted once daily for a total of eight days. Two sets of measurements were done one before and one after the intervention. Neck pain, cervical stiffness, range of motion and lordosis of the cervical spine were measured. Experimental intervention decreased the neck pain, and increased the neck stiffness and cervical ROM (range of motion) such as flexion, extension, lateral flexion and rotation. X-ray photographs also represented that cervical curvature increased from $35^{\circ}$ to $40^{\circ}$. This study suggested that PA cervical mobilization applied to hronic WAD is effective in decreasing pain, increasing cervical ROM and cervical curvature.

• Genomics & Informatics
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• v.20 no.2
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• pp.24.1-24.8
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• 2022

Hypomyelinating leukodystrophy type 2 (HLD2), is an inherited genetic disease of the central nervous system caused by recessive mutations in the gap junction protein gamma 2 (GJC2/GJA12). HLD2 is characterized by nystagmus, developmental delay, motor impairments, ataxia, severe speech problem, and hypomyelination in the brain. The GJC2 sequence encodes connexin 47 protein (Cx47). Connexins are a group of membrane proteins that oligomerize to construct gap junctions protein. In the present study, a novel missense mutation gene c.760G>A (p.Val254Met) was identified in a patient with HLD2 by performing whole exome sequencing. Following the discovery of the new mutation in the proband, we used Sanger sequencing to analyze his affected sibling and parents. Sanger sequencing verified homozygosity of the mutation in the proband and his affected sibling. The autosomal recessive inheritance pattern was confirmed since Sanger sequencing revealed both healthy parents were heterozygous for the mutation. PolyPhen2, SIFT, PROVEAN, and CADD were used to evaluate the function prediction scores of detected mutations. Cx47 is essential for oligodendrocyte function, including adequate myelination and myelin maintenance in humans. Novel mutation p.Val254Met is located in the second extracellular domain of Cx47, both extracellular loops are highly conserved and probably induce intramolecular disulfide interactions. This novel mutation in the Cx47 gene causes oligodendrocyte dysfunction and HLD2 disorder.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.7 no.1
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• pp.77-91
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• 1996

In order to elucidate the biological etiology and the effects of comorbidity on biological variables in tic disorders, plasma serotonin (5-hydroxlfryptamine, 5-HT) and 5-hydroxy- indoleacetic acid (5-HIAA) we.e measured in 87 tic disorders and 30 control subjects. The 87 tic disorder were composed of 45 Tourette's disorder(TS), 22 chronic motor tic disorders (CMT) and 20 transient tic disorders (TTD). Among these patients,43 patients were pure tic disorder (PT), 28 subject also had attention deficit hyperactivity disorder (T+ADHD) and 16 subjects had obsessive compulsive disorders (T+ OCD) as comorbid disorders. The results are summarized as follows : 1) Plasma 5-HT levels showed significant positive correlations with plasma 5-HIAA levels (Pennon r=0.77, p<0.05). 2) Plasma 5-HT and 5-HIAA levels showed no significant correlation with age in tic disorders. 3) Plasma 5-HIAA and 5-HT levels showed no significant correlations with age in control subjects. 4) There was significant difference in plasma 5-HT levels among TS, CMT, TTD and control groups (ANOVA F=34.48, df=3, 113, p<0.01), and post-hoc test using Scheffe method showed significant differences between control and TS, control and CMT, control and ITD groups. But, post-hoc test showed no significant differences between TS and CMT, TS and TTD, CMT and TTD groups. 5) There was significant difference in plasma 5-HIAA levels among TS, CMT, TTD and control groups (ANOVA F=26.48, df=3, 113, p<0.01), and post-hoc test using Scheffe method showed significant differences between control and TS, control and CMT, control and TTD groups. But, post-hoc test showed no significant differences between TS and CMT, TS and TTD, CMT and TID groups.f) There was significant difference in plasma 5-HT and 5-HIAA levels among PT, T+ADHD, T+OCD and contol groups (ANOVA 5-HT, F=37.59, df=3, 113, p<0.01, 5-HIAA, F=27.37, df=3, 113, p<0.01), and post-hoc test using Scheffe method showed signiscant differences between control and PT, control and T+ADHD and control and T+OCB. But, post-hoc test showed no significant differences between PT and T+ADHD, PT and T+ OCD and T+ADHD and T+ OCD. These results show that decreased 5-HT and 5-HIAA levels may play a role in the genesis of tic disorders, but these findings have no significant correlations with the severity of tic disorders. And the comorbid disorders of tics may have minimal effects on the biochemical abnormalities. Future studies must be focused on the effects of serotonin agonists and antagonists on tic disorders and molecular biological methodology may enhance to elucidate the mechanisms of these abnormal findings.