• Journal of the korean academy of Pediatric Dentistry
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• v.29 no.2
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• pp.237-242
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• 2002

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney and nervous system, and occurs predominantly in mostly males. The patients with Lowe syndrome are characterized with prominent forehead, thin and sparse hair, protruding ears, congenital cataracts, glaucoma, mental retardation, stunted growth, hypotonia, decrease in muscle mass and tendon reflexes, renal tubular dysfunction, and metabolic bone disease. A 6-year-old boy with Lowe syndrome was admitted to our clinic, with multiple caries and a chief complaint of intermittent pain on the left mandibular molar area. Because of difficulty in management of behavior and his medical problem, general anesthesia was performed for dental care. No specific complication was noticed during dental treatment procedure under general anesthesia and also during periodic recall-checks. General anesthesia itself, however, could be a potentially life-threatening procedure due to patient's biomedical problems. When a dental procedure under general anesthesia is to be required in patient with Lowe syndrome, it may be advisable being teamed with physicians, and general anesthesia duration should be as short as possible.

• Journal of the korean academy of Pediatric Dentistry
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• v.39 no.2
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• pp.161-165
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• 2012

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney, brain and musculoskeletal system, and occurs predominantly in males. The patient with Lowe syndrome is characterized with congenital cataracts, glaucoma, prominent forehead, thin and sparse hair, mental and growth retardation, muscular hypotonia, renal dysfunction, and metabolic bone disease. We have experienced a 10-year-old boy with Lowe syndrome who had poor oral hygiene and trouble for teeth brushing. To manage his behavior and systemic metabolic disorder, sedation was performed during dental care. Excessive calculus formation in this patient is caused by both medication and lack of ability to maintain oral hygiene. The dental management of those patients has to be focused on prevention due to difficulties in dental treatment and dangers of general anesthesia for the Lowe syndrome.

• Journal of TMJ Balancing Medicine
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• v.10 no.1
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• pp.26-31
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• 2020

Objectives: The purpose of this study is to report the effect of Korean medical treatment with FCST and Miniscalpel-Acupuncture on patient with cervical dystonia. Methods: In this study, A patient with cervical dystonia was admitted to ◯◯ Korean medicine Hospital from Oct 20th, 2020 to Nov 28th, 2020. During the admission period, the patient was treated by Korean medical treatment (acupuncture, pharmacopuncture, herb medicine, etc.), especially using FCST and Miniscalpel-Acupuncture. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), the Tsui score and CDIP (Cervical Dystonia Impact Profile)-58 were used for measuring the Cervical Dystonia. Results: After treatment for 40 days, the TWSTRS showed a decrease from 52.75 to 13.75, the Tsui score also decreased from 17 to 3 and the CDIP-58 score decreased from 64.1 to 25.5. Conclusions: These results showed that Korean medical treatment especially using FCST and Miniscalpel-Acupuncture may have an effect on reducing symptoms of cervical dystonia. But the further researches are needed.

• The Journal of Internal Korean Medicine
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• v.42 no.2
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• pp.152-164
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• 2021

Objective: This case reports on the effect of traditional Korean medicine (TKM) treatment in a patient with psychogenic dystonia. Methods: A patient with generalized tremor and gait disturbance diagnosed as psychogenic dystonia was treated with Yokukan-san-gami, Jakyakgamcho-tang, Yikgeebohyul-tang, acupuncture, moxibustion, and cupping for 6 weeks. Symptom improvement was evaluated with the unified dystonia rating scale (UDRS) and the Toronto Western spasmodic torticollis rating scale (TWSTRS). Results: After 6 weeks of TKM treatment, the UDRS and TWSTRS decreased, and the patient's clinical symptoms, including generalized tremor and gait disturbance, improved. Conclusions: This case shows that TKM treatment may be effective for improving psychogenic dystonia.

• Sleep Medicine and Psychophysiology
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• v.6 no.1
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• pp.38-45
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• 1999

Objectives: We explored the characteristics of physiological variables such as electrodermal response(EDR) and electromyography(EMG) in patients with insomnia, panic disorder, and other anxiety disorders. we aimed to decide the minimum sessions in biofeedback treatment to make the treatment effective and examine the effects of long-term biofeedback treatment by measuring the physiological variables. Methods: Thirty seven outpatients who received biofeedback treatment were divided into 3 groups according to the number of biofeedback sessions(patients who received 4-5 sessions, who received 6-9 sessions, and who received more than 10 sessions). We measured mean and delta values of EDR and EMG levels, and the Hamilton Anxiety Rating Scale(HARS), and Slef-Relaxation Inventory(SRI) in all patients. Data were analyzed by t-test and repeated measures analysis of variance. Results: The mean and delta values of EDR and EMG levels were not different among the 3 groups during the first 4 biofeedback sessions. However, patients who received more than 10 biofeedback sessions had higher baseline mean EDR value(F=2.233, p=0.036) in the first session, compared with other patients. In patients who received more than 10 biofeedback sessions, mean EDR was significantly reduced after $5^{th}$ session(F=10.41, p<0.01). They showed significant improvement in SRI scores at 12th biofeedback session(t=2.726, p<0.05) and in HARS scores at $6^{th}$(t=3.10, p<0.05) and $12^{th}$ biofeedback session(t=10.93, p<0.001). Conclusions: Wesuggest that patients should receive more than 5 biofeedback sessions to experience internal cues and get a good clinical response to biofeedback treatment.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.1
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• pp.42-45
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• 2013

De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital orthopedic anomalies, cleft lip and palate are relatively common. People with distal 18q- are often small for their age. Most individuals with distal 18q- fall in the mild to moderate range of intellectual disability. Strabismus and nystagmus, changes in the optic nerve as well as colobomas are also fairly common. People with distal 18q- frequently have conductive and/or sensorineural hearing loss. At present, treatment for distal 18q- is only symptomatic. This article presents a case report: Caries treatment of a 4-year-old female patient with de Grouchy syndrome under general anesthesia. The special considerations of dental care, especially caries treatment for the patient with de Grouchy syndrome are discussed.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.30 no.2
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• pp.112-117
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• 2019

Background and Objectives The purpose of this study was to develop the differential diagnosis scale containing items from adductor spasmodic dysphonia (ADSD) to muscle tension dysphonia (MTD) and the determine clinical utility of newly developed items. Materials and Method The four parts of pitch, redirected phonation, automatic speech and voiced sound were selected for analyzing the characteristics of ADSD in the literature. One part of tense voiceless sound was developed according to the Korean manner of articulation. The content validity was evaluated based on 5 scales (1-5 point) analysis from 30 experts. One hundred patients (50 ADSD and 50 MTD) were recorded in reading a sentence and sustained phonation. The two speech language pathologist evaluated recorded voices through a blind test using 4 scales (0-3 point) for newly developed items. Results As a result of verifying the content validity of items with experts, it was identified that the differentiated items were valid with 4.2 out of 5. Through the differential diagnosis between two groups according to the items, the correlation between sub-domains and total scores was shown as higher than 0.710. The result of analyzing the reliability on each diagnosis domain was 0.840-0.893, which showed the internal consistency of items was great. Newly developed five parts of ADSD were significantly higher than those of MTD with strong correlation (p<0.01). The reliability among the evaluators was analyzed as high with 0.892. Conclusion In this study, the differential diagnosis scale of ADSD was revealed as having validity and reliability. It is considered that it will be useful for differentiating ADSD and MTD in the clinical field.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.148-154
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• 2016

A urea cycle disorder is a condition caused by a defect of the enzymes in the urea cycle, and deficiency of ornithine transcarbamylase (OTC), which converts carbamoyl phosphate and ornithine into citrulline, is the most common type of the disorder. OTC deficiency induces the accumulation of precursors of urea, ammonia, and glutamine, leading to neurological symptoms including hypotonia, respiratory failure, seizure, lethargy, and coma and sometimes to death. Because OTC deficiency is inherited in an X-linked manner, typical symptoms such as vomiting, poor feeding, and lethargy appear mainly in male neonates. We recently had a case that presented with neonatal onset lethargy, vomiting, and apnea in a 4-day-old boy. He was diagnosed with OTC deficiency by biochemical phenotype, including hyperammonemia and an increased orotic acid level in the urine. Genetic analysis of the OTC gene showed a novel mutation c.780_781insCAGGCAGTGT (p.Ile261Glnfs*35). He was treated for hyperammonemia using continuous venovenous hemofiltration (CVVH) at 118 hours after birth. After 4 days of CVVH, his consciousness and blood ammonia concentration were normalized, and he was discharged at the age of 53 days. At around 12 months of age, bilateral femur fractures and osteomyelitis occurred in this patient. Two months after the fracture, he died of septic shock, insulin-resistant hyperglycemia, and multi-organ failure.

• Archives of Plastic Surgery
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• v.38 no.2
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• pp.207-211
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• 2011

Purpose: Surgery for thyroid gland requires skin incisions that can result in postsurgical neck scar. To overcome this, many surgeons performed a endoscopic thyroidectomy. But, this approach had a some problems. One of postoperative problems, iatrogenic cervical dystonia (CD) may occur. At common, CD is defined as a syndrome characterized by prolonged muscle contraction causing twisting, repetitive movements or abnormal posture. Botulinum toxin A (BTA, Botox$^{(R)}$, Allergan, Irvine, CA, USA) is well known treatment agent in the treatment of CD. So, the authors applied BTA injection in rare case with iatrogenic CD resulting in endoscopic thyroidectomy. Methods: A 43-year-old female had endoscopic subtotal thyroidectomy operation 3 years ago. She had symptoms such as progressive cervical pain, abnormal neck posture, depression, and sleep difficulty. About 1 year later, the patient who had previous myomectomy of the clavicular head of sternocleidomastoid muscle, however, symptoms were not improved. And then the patient received BTA therapy in our department. The 2 units per 0.1 mL solution was administered in a 1 mL tuberculin syringe. Results: The dose of BTA used in the patient was 36 units for vertical platysmal bands, superficially, and 10 units for ipsilateral sternocleidomastoid muscle, intramuscularly. After 2 weeks, additional the dose of BTA used in the patient was 5 points for remained scar bands, superficially. Complications related to injection such as significant swallowing difficulties, neck muscle weakness, or sensory change were not observed. In 9 months follow-up, the patient maintained a good result from the method of BTA injection alone. Conclusion: The basic concept is selective denervation for the hyperactive individual muscles and scar bands. We conclude that BTA is an effective and safe treatment for CD despite the iatrogenic and complex presentation of this complication.

• The Journal of Internal Korean Medicine
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• v.45 no.2
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• pp.208-218
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• 2024

We report a case of generalized dystonia that developed from oromandibular dystonia and improved following Korean medicine treatment. The patient was hospitalized for 18 days and treated with herbal medicine, mainly Hyeongbangsabaek-san and Soyangbowi-tang, acupuncture, electroacupuncture, pharmacopuncture, cupping, and moxibustion. To evaluate the clinical effects of the treatment, we used the Unified Dystonia Rating Scale (UDRS) and Global Dystonia Severity Rating Scale (GDS) and checked dyskinesia occurrence in a diary recorded by the patient's guardian. After 18 days of hospitalization, the UDRS for the trunk, upper extremities, and lower face improved by more than 50%, and the GDS for the whole region, except the larynx and lower face, also improved. In addition, the maximum duration of dystonia decreased from 6 hours to 3 hours, and the pain and numbness associated with dystonia disappeared. This case suggests that Korean medicine treatment is effective in treating generalized dystonia.